Advanced Search (OLGA)

Gene: CPS1 (carbamoyl-phosphate synthase 1) Homo sapiens

Analyze

Symbol:

CPS1

Name:

carbamoyl-phosphate synthase 1

RGD ID:

70833

HGNC Page

HGNC:2323

Description:

Enables carbamoyl-phosphate synthase (ammonia) activity; modified amino acid binding activity; and potassium ion binding activity. Involved in several processes, including carbamoyl phosphate biosynthetic process; cellular response to ammonium ion; and triglyceride catabolic process. Located in mitochondrial nucleoid and nucleolus. Implicated in carbamoyl phosphate synthetase I deficiency disease; persistent fetal circulation syndrome; and vascular disease. Biomarker of hepatocellular carcinoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

carbamoyl-phosphate synthase (ammonia); carbamoyl-phosphate synthase 1, mitochondrial; carbamoyl-phosphate synthase [ammonia], mitochondrial; carbamoylphosphate synthetase I; CPSASE1; GATD6; PHN

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	210,477,685 - 210,679,107 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	210,477,682 - 210,679,107 (+)	Ensembl			hg38	GRCh38
GRCh37	2	211,342,409 - 211,543,831 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	211,129,583 - 211,252,076 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	2	211,246,843 - 211,369,335	NCBI
Celera	2	205,110,438 - 205,311,714 (+)	NCBI		Celera
Cytogenetic Map	2	q34	NCBI
HuRef	2	203,188,451 - 203,390,097 (+)	NCBI		HuRef
CHM1_1	2	211,348,531 - 211,549,854 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	210,958,482 - 211,159,839 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Acidoses (ISO)

alcohol-associated liver disease (ISO)

Animal Hepatitis (ISO)

brain disease (IAGP)

carbamoyl phosphate synthetase I deficiency disease (EXP,IAGP,ISS)

CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (ISO)

Chemical and Drug Induced Liver Injury (EXP)

Coma (EXP)

Endotoxemia (EXP)

Experimental Diabetes Mellitus (ISO)

Experimental Liver Cirrhosis (EXP,ISO)

Experimental Liver Neoplasms (ISO)

Fetal Growth Retardation (ISO)

genetic disease (IAGP)

hepatocellular carcinoma (IEP)

hereditary breast ovarian cancer syndrome (IAGP)

Hyperammonemia (EXP)

hypertension (ISO)

intellectual disability (IAGP)

Liver Failure (ISO)

Neonatal Pulmonary Hypertension (IAGP)

obesity (ISO)

persistent fetal circulation syndrome (EXP,IAGP)

pre-malignant neoplasm (EXP)

steatotic liver disease (ISO)

vascular disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

1,3-dinitrobenzene (ISO)

17beta-estradiol (EXP,ISO)

2,3,7,8-tetrabromodibenzodioxine (ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,4-dibromophenyl 2,4,5-tribromophenyl ether (ISO)

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

2-acetamidofluorene (ISO)

3-chloropropane-1,2-diol (ISO)

4,4'-sulfonyldiphenol (ISO)

acetamide (ISO)

acrolein (EXP)

acrylamide (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP,ISO)

alpha-pinene (EXP)

ammonia (EXP)

ammonium chloride (EXP,ISO)

aristolochic acid A (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (EXP,ISO)

atrazine (ISO)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

bexarotene (ISO)

bis(2-ethylhexyl) phthalate (EXP,ISO)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

bosentan (EXP)

brequinar (EXP)

buta-1,3-diene (ISO)

butanal (EXP)

Butylbenzyl phthalate (EXP)

cadmium atom (ISO)

cadmium dichloride (ISO)

captan (ISO)

carbon nanotube (ISO)

CGP 52608 (EXP)

chenodeoxycholic acid (EXP)

cisplatin (EXP)

clofibrate (ISO)

cobalt dichloride (EXP,ISO)

copper(II) chloride (EXP)

copper(II) sulfate (EXP)

coumarin (EXP)

cyclosporin A (EXP)

deoxycholic acid (EXP)

dexamethasone (ISO)

diisononyl phthalate (EXP)

dioxygen (EXP)

doxorubicin (EXP,ISO)

endosulfan (EXP,ISO)

entinostat (EXP)

ethanol (ISO)

etoposide (EXP)

flucloxacillin (EXP)

flutamide (ISO)

folpet (ISO)

formaldehyde (EXP)

glafenine (ISO)

glutathione (ISO)

glycochenodeoxycholic acid (EXP)

glycocholic acid (EXP)

glycodeoxycholic acid (EXP)

hydrogen peroxide (EXP)

inulin (ISO)

iodide salt (ISO)

isoprenaline (ISO)

ivermectin (EXP)

lead nitrate (EXP)

Licochalcone B (EXP)

mercury atom (EXP)

mercury(0) (EXP)

methapyrilene (ISO)

methotrexate (EXP)

methoxychlor (ISO)

methyl methanesulfonate (EXP)

methylmercury chloride (EXP)

mitomycin C (EXP)

N-nitrosodiethylamine (ISO)

N-nitrosodimethylamine (ISO)

N-nitrosomorpholine (ISO)

N-Nitrosopyrrolidine (EXP)

nefazodone (ISO)

nimesulide (ISO)

nitric oxide (EXP)

nitrofen (ISO)

nitroprusside (EXP)

O-methyleugenol (EXP)

ochratoxin A (EXP)

okadaic acid (EXP)

ozone (EXP)

paracetamol (EXP,ISO)

perfluorododecanoic acid (ISO)

perfluorononanoic acid (EXP)

perfluorooctane-1-sulfonic acid (EXP,ISO)

perfluorooctanoic acid (EXP,ISO)

phenobarbital (EXP,ISO)

pirinixic acid (ISO)

potassium dichromate (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

quercetin (EXP)

sodium arsenate (ISO)

sodium arsenite (EXP)

sodium benzoate (ISO)

sodium dichromate (ISO)

sulforaphane (EXP)

sunitinib (EXP)

Sunset Yellow FCF (EXP)

tartrazine (EXP)

tauroursodeoxycholic acid (ISO)

temozolomide (EXP)

tetrachloromethane (ISO)

thimerosal (EXP)

thioacetamide (ISO)

trichloroethene (ISO)

triclosan (EXP)

Triptolide (ISO)

triptonide (ISO)

troglitazone (ISO)

valdecoxib (ISO)

valproic acid (EXP,ISO)

vorinostat (EXP)

zinc atom (EXP)

zinc dichloride (EXP)

zinc(0) (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

'de novo' pyrimidine nucleobase biosynthetic process (IEA)

carbamoyl phosphate biosynthetic process (IMP)

cellular response to ammonium ion (IMP)

cellular response to cAMP (IEA,ISO)

cellular response to fibroblast growth factor stimulus (IEA,ISO)

cellular response to glucagon stimulus (IEA,ISO)

cellular response to oleic acid (IEA,ISO)

citrulline biosynthetic process (NAS)

glutamine metabolic process (IBA,IEA)

hepatocyte differentiation (IEA,ISO)

homocysteine metabolic process (IDA)

liver development (IEA,ISO)

midgut development (IEA,ISO)

monoatomic anion homeostasis (IEA,ISO)

nitric oxide metabolic process (IMP)

response to alcohol (IEA,ISO)

response to amine (IEA,ISO)

response to amino acid (IEA,ISO)

response to cAMP (IEA,ISO)

response to dexamethasone (IEA,ISO)

response to food (IEA,ISO)

response to glucagon (IEA,ISO)

response to glucocorticoid (IEA,ISO)

response to growth hormone (IEA,ISO)

response to lipopolysaccharide (IDA,IEA,ISO)

response to oleic acid (IEA,ISO)

response to starvation (IEA,ISO)

response to steroid hormone (IEA,ISO)

response to toxic substance (IEA,ISO)

response to xenobiotic stimulus (IEA,ISO)

response to zinc ion (IEA,ISO)

small molecule metabolic process (IEA)

triglyceride catabolic process (IMP)

urea cycle (IEA,ISO,NAS,TAS)

vasodilation (IMP)

Cellular Component

cytoplasm (IBA)

cytosol (IEA,ISO)

mitochondrial inner membrane (IEA,ISO)

mitochondrial matrix (TAS)

mitochondrial nucleoid (IDA)

mitochondrion (HTP,IEA)

nucleolus (IDA,IEA)

plasma membrane (IEA)

protein-containing complex (IEA,ISO)

sperm midpiece (IDA)

sperm principal piece (IDA)

Molecular Function

ATP binding (IEA,ISO)

calcium ion binding (IEA,ISO)

carbamoyl-phosphate synthase (ammonia) activity (EXP,IBA,IEA,IMP,ISO)

carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity (IBA,IEA)

catalytic activity (IEA)

endopeptidase activity (IEA,ISO)

glutamate binding (IEA,ISO)

ligase activity (IEA)

ligase activity, forming carbon-nitrogen bonds (IEA)

metal ion binding (EXP,IEA)

modified amino acid binding (IDA)

nucleotide binding (IEA)

phospholipid binding (IEA,ISO)

potassium ion binding (EXP)

protein binding (IPI)

protein-containing complex binding (IEA,ISO)

small molecule binding (EXP)

Molecular Pathway Annotations Click to see Annotation Detail View

2-hydroxyglutaric aciduria pathway (EXP)

AGAT deficiency pathway (EXP)

alanine, aspartate and glutamate metabolic pathway (IEA)

arginine and proline metabolic pathway (EXP,IEA)

argininosuccinic aciduria pathway (EXP)

carbamoyl phosphate synthetase I deficiency pathway (EXP)

citrullinemia pathway (EXP)

glutamic acid/glutamate metabolic pathway (EXP)

guanidinoacetate methyltransferase deficiency pathway (EXP)

gyrate atrophy pathway (EXP)

homocarnosinosis pathway (EXP)

hyperargininemia pathway (EXP)

hyperprolinemia type I pathway (EXP)

hyperprolinemia type II pathway (EXP)

ornithine carbamoyltransferase deficiency pathway (EXP)

ornithine translocase deficiency pathway (EXP)

prolidase deficiency pathway (EXP)

succinic semialdehyde dehydrogenase deficiency pathway (EXP)

urea cycle pathway (EXP,ISO)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Aminoaciduria (IAGP)

Ataxia (IAGP)

Autosomal recessive inheritance (IAGP)

Cerebral edema (IAGP)

Coma (IAGP)

Episodic ammonia intoxication (IAGP)

Failure to thrive (IAGP)

Global developmental delay (IAGP)

Hyperammonemia (IAGP)

Hypoargininemia (IAGP)

Hypotonia (IAGP)

Intellectual disability (IAGP)

Irritability (IAGP)

Lethargy (IAGP)

Low plasma citrulline (IAGP)

Neonatal onset (IAGP)

Protein avoidance (IAGP)

Respiratory alkalosis (IAGP)

Respiratory insufficiency (IAGP)

Seizure (IAGP)

Stroke (IAGP)

Vomiting (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Decreased urea synthesis in cafeteria-diet-induced obesity in the rat.	Barber T, etal., Biochem J. 1985 Sep 15;230(3):675-81.
2.	Significant Down-Regulation of Urea Cycle Generates Clinically Relevant Proteomic Signature in Hepatocellular Carcinoma Patients with Macrovascular Invasion.	Cao Y, etal., J Proteome Res. 2019 May 3;18(5):2032-2044. doi: 10.1021/acs.jproteome.8b00921. Epub 2019 Mar 29.
3.	Isoaspartate, carbamoyl phosphate synthase-1, and carbonic anhydrase-III as biomarkers of liver injury.	Carter WG, etal., Biochem Biophys Res Commun. 2015 Mar 13;458(3):626-631. doi: 10.1016/j.bbrc.2015.01.158. Epub 2015 Feb 13.
4.	Reciprocal regulation of glutamine synthetase and carbamoylphosphate synthetase levels in rat liver.	de Groot CJ, etal., Biochim Biophys Acta. 1987 Apr 29;908(3):231-40.
5.	S 35171 exerts protective effects in spontaneously hypertensive stroke-prone rats by preserving mitochondrial function.	Gelosa P, etal., Eur J Pharmacol. 2009 Feb 14;604(1-3):117-24. Epub 2008 Dec 24.
6.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
7.	Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.	Hoshide R, etal., J Clin Invest. 1993 May;91(5):1884-7.
8.	KEGG: Kyoto Encyclopedia of Genes and Genomes	KEGG
9.	Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy.	Khoja S, etal., Mol Genet Metab. 2018 Apr 12. pii: S1096-7192(18)30059-3. doi: 10.1016/j.ymgme.2018.04.001.
10.	Alterations in renal and hepatic nitrogen metabolism in rats during HCl ingestion.	Lardner AL and O'Donovan DJ, Metabolism. 1998 Feb;47(2):163-7.
11.	[Ammonia metabolism of liver of the fetus induced experimental IUGR in rats--in respect of the enzymes in pyrimidin biosynthesis and urea cycle system]	Nagasaki T Nippon Sanka Fujinka Gakkai Zasshi. 1985 Jan;37(1):24-30.
12.	Cirrhosis and endotoxin decrease urea synthesis in rats.	Nielsen SS, etal., Hepatol Res. 2007 Jul;37(7):540-7.
13.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
14.	Online Mendelian Inheritance in Man, OMIM (TM).	Online Mendelian Inheritance in Man, OMIM (TM).
15.	Enzyme-linked immunosorbent assay of carbamoylphosphate synthetase I: plasma enzyme in rat experimental hepatitis and its clearance.	Ozaki M, etal., Enzyme Protein. 1994-1995;48(4):213-21.
16.	Neonatal pulmonary hypertension--urea-cycle intermediates, nitric oxide production, and carbamoyl-phosphate synthetase function.	Pearson DL, etal., N Engl J Med. 2001 Jun 14;344(24):1832-8.
17.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
18.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
19.	The interaction of rat liver carbamoyl phosphate synthetase and ornithine transcarbamoylase with inner mitochondrial membranes.	Powers-Lee SG, etal., J Biol Chem. 1987 Nov 15;262(32):15683-8.
20.	Mitochondrial dysfunction precedes insulin resistance and hepatic steatosis and contributes to the natural history of non-alcoholic fatty liver disease in an obese rodent model.	Rector RS, etal., J Hepatol. 2010 May;52(5):727-36. Epub 2010 Mar 4.
21.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
22.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
23.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
24.	Regulation of ammonia-metabolizing enzymes expression in the liver of obese rats: differences between genetic and nutritional obesities.	Roig R, etal., Int J Obes Relat Metab Disord. 1997 Aug;21(8):681-5.
25.	Relationship between carbamoyl-phosphate synthetase genotype and systemic vascular function.	Summar ML, etal., Hypertension. 2004 Feb;43(2):186-91. Epub 2004 Jan 12.
26.	Messenger RNA profiles in liver injury and stress: a comparison of lethal and nonlethal rat models.	Tygstrup N, etal., Biochem Biophys Res Commun 2002 Jan 11;290(1):518-25.
27.	Expression of messenger RNA for liver functions following 70% and 90% hepatectomy.	Tygstrup N, etal., J Hepatol. 1996 Jul;25(1):72-8.
28.	Cloning of cDNA coding for carbamyl phosphate synthetase I and changes in levels of CPS1 mRNA during hepatocarcinogenesis.	Wu SJ, etal., Sci Sin B. 1988 Feb;31(2):197-203.

Additional References at PubMed

PMID:1840546	PMID:2517620	PMID:6249820	PMID:7416778	PMID:7590739	PMID:8889549	PMID:9711878	PMID:11474210	PMID:11752456	PMID:12477932	PMID:12620389	PMID:12655559
PMID:12853138	PMID:12955727	PMID:15146197	PMID:15161933	PMID:15164414	PMID:15342556	PMID:15617192	PMID:15715943	PMID:15897806	PMID:16344560	PMID:17188582	PMID:17461779
PMID:17597649	PMID:18063578	PMID:18320585	PMID:19322201	PMID:19410549	PMID:19754428	PMID:19793055	PMID:19913121	PMID:19926579	PMID:20000738	PMID:20031577	PMID:20031578
PMID:20154341	PMID:20301396	PMID:20360068	PMID:20379614	PMID:20383146	PMID:20456087	PMID:20520828	PMID:20578160	PMID:20618440	PMID:20628086	PMID:20659789	PMID:20800523
PMID:20877624	PMID:21081503	PMID:21120950	PMID:21281797	PMID:21837743	PMID:21873635	PMID:21886157	PMID:22145905	PMID:22173106	PMID:22268729	PMID:22496890	PMID:22521883
PMID:22623531	PMID:22692827	PMID:22939629	PMID:23144319	PMID:23378610	PMID:23517042	PMID:23824729	PMID:23969696	PMID:24097068	PMID:24337577	PMID:24625756	PMID:24651765
PMID:24763545	PMID:24778252	PMID:24813853	PMID:24816252	PMID:24888247	PMID:24924744	PMID:25099619	PMID:25410056	PMID:25609649	PMID:26059772	PMID:26186194	PMID:26344197
PMID:26496610	PMID:26499888	PMID:26592762	PMID:26822151	PMID:26938218	PMID:27025967	PMID:27342126	PMID:27425868	PMID:27499296	PMID:27833157	PMID:28187035	PMID:28272778
PMID:28376202	PMID:28378594	PMID:28514442	PMID:28515276	PMID:28538732	PMID:29441491	PMID:29507755	PMID:29509794	PMID:29955894	PMID:29991678	PMID:30698308	PMID:30737378
PMID:30802674	PMID:30843237	PMID:30884312	PMID:31091453	PMID:31386258	PMID:31492588	PMID:31565867	PMID:31586073	PMID:31617661	PMID:31741433	PMID:31749211	PMID:32273051
PMID:32665550	PMID:32934962	PMID:33317798	PMID:33387664	PMID:33493519	PMID:33567341	PMID:33772623	PMID:33851512	PMID:33961781	PMID:34343359	PMID:34535262	PMID:34591877
PMID:34795231	PMID:34800366	PMID:34973183	PMID:35008510	PMID:35012549	PMID:35182466	PMID:35676659	PMID:35681168	PMID:35777956	PMID:35850772	PMID:35944360	PMID:36064721
PMID:36098904	PMID:36168627	PMID:36215168	PMID:36261009	PMID:36470425	PMID:36574265	PMID:36809953	PMID:36896912	PMID:37047726	PMID:37054752	PMID:37427576	PMID:37788672
PMID:38043095	PMID:38113892	PMID:38334954	PMID:38986614	PMID:39174957	PMID:40437099	PMID:40593736

Genomics

Comparative Map Data

CPS1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	210,477,685 - 210,679,107 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	210,477,682 - 210,679,107 (+)	Ensembl			hg38	GRCh38
GRCh37	2	211,342,409 - 211,543,831 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	211,129,583 - 211,252,076 (+)	NCBI	Build 36	Build 36	hg18	NCBI36
Build 34	2	211,246,843 - 211,369,335	NCBI
Celera	2	205,110,438 - 205,311,714 (+)	NCBI		Celera
Cytogenetic Map	2	q34	NCBI
HuRef	2	203,188,451 - 203,390,097 (+)	NCBI		HuRef
CHM1_1	2	211,348,531 - 211,549,854 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	2	210,958,482 - 211,159,839 (+)	NCBI		T2T-CHM13v2.0

Cps1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	1	67,151,294 - 67,270,426 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	1	67,162,185 - 67,270,418 (+)	Ensembl		GRCm39 Ensembl		GRCm39
GRCm38	1	67,122,426 - 67,231,267 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	1	67,123,026 - 67,231,259 (+)	Ensembl			mm10	GRCm38
MGSCv37	1	67,169,640 - 67,277,022 (+)	NCBI	MGSCv37	MGSCv37	mm9	NCBIm37
MGSCv36	1	67,056,235 - 67,164,475 (+)	NCBI		MGSCv36	mm8
Celera	1	67,649,362 - 67,756,702 (+)	NCBI		Celera
Cytogenetic Map	1	C3	NCBI
cM Map	1	33.75	NCBI

Cps1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	9	76,063,863 - 76,186,739 (+)	NCBI	GRCr8	GRCr8		GRCr8
GRCr8 Ensembl	9	76,000,754 - 76,186,734 (+)	Ensembl				GRCr8
mRatBN7.2	9	68,614,153 - 68,737,037 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	9	68,614,153 - 68,737,033 (+)	Ensembl				mRatBN7.2
UTH_Rnor_SHR_Utx	9	77,103,116 - 77,225,425 (+)	NCBI	UTH_Rnor_SHR_Utx	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	9	82,232,050 - 82,354,355 (+)	NCBI	UTH_Rnor_SHRSP_BbbUtx_1.0	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	9	80,638,581 - 80,759,682 (+)	NCBI	UTH_Rnor_WKY_Bbb_1.0	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	9	74,113,437 - 74,236,274 (+)	NCBI	Rnor_6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	9	74,124,016 - 74,236,274 (+)	Ensembl			rn6	Rnor6.0
Rnor_5.0	9	73,072,857 - 73,183,868 (-)	NCBI	Rnor_5.0	Rnor_5.0	rn5
RGSC_v3.4	9	65,907,211 - 66,017,942 (+)	NCBI	RGSC_v3.4	RGSC_v3.4	rn4
Celera	9	66,092,717 - 66,214,118 (+)	NCBI		Celera
RGSC_v3.1	9	66,054,192 - 66,164,924 (+)	NCBI
Cytogenetic Map	9	q32	NCBI

Cps1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955457	4,844,152 - 4,961,246 (-)	Ensembl
ChiLan1.0	NW_004955457	4,848,116 - 4,961,384 (-)	NCBI	ChiLan1.0	ChiLan1.0

CPS1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	13	113,101,056 - 113,302,208 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2B	113,116,036 - 113,318,192 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2B	97,735,486 - 97,936,623 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2B	216,136,857 - 216,337,728 (+)	NCBI	PanPan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2B	216,136,857 - 216,337,728 (+)	Ensembl			panPan2	panpan1.1

CPS1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	37	18,308,164 - 18,428,487 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	37	18,143,986 - 18,427,697 (+)	Ensembl			canFam3	CanFam3.1
Dog10K_Boxer_Tasha	37	19,188,984 - 19,309,290 (+)	NCBI	Dog10K_Boxer_Tasha	Dog10K_Boxer_Tasha
ROS_Cfam_1.0	37	18,246,433 - 18,366,577 (+)	NCBI	ROS_Cfam_1.0	ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	37	18,082,221 - 18,366,572 (+)	Ensembl				ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	37	18,198,783 - 18,319,066 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	37	18,161,084 - 18,281,176 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	37	18,175,864 - 18,296,018 (+)	NCBI	UU_Cfam_GSD_1.0	UU_Cfam_GSD_1.0

Cps1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405303	166,764,670 - 166,886,826 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936586	5,739,337 - 5,850,312 (-)	Ensembl		SpeTri2.0 Ensembl
SpeTri2.0	NW_004936586	5,739,038 - 5,850,317 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CPS1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	15	113,150,157 - 113,339,078 (+)	Ensembl			susScr11	Sscrofa11.1
Sscrofa11.1	15	113,210,038 - 113,339,086 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	15	125,183,128 - 125,279,098 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CPS1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	10	96,267,890 - 96,392,393 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	10	96,267,889 - 96,392,206 (+)	Ensembl		ChlSab1.1 Ensembl	chlSab2	Vervet-AGM
Vero_WHO_p1.0	NW_023666040	102,979,677 - 103,099,178 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Cps1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624765	5,528,112 - 5,651,415 (-)	Ensembl		HetGla_female_1.0 Ensembl	hetGla2	HetGla_female_1.0 Ensembl
HetGla 1.0	NW_004624765	5,527,029 - 5,652,343 (-)	NCBI	HetGla 1.0	HetGla 1.0	hetGla2

Cps1
(Rattus rattus - black rat)

Black Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Black Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Rrattus_CSIRO_v1	4	139,655,447 - 139,743,127 (-)	NCBI		Rrattus_CSIRO_v1

Variants

Variants in CPS1
2055 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup)	duplication	Congenital hyperammonemia, type I [RCV000529677]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003470799]	Chr2:210576411..210576412 [GRCh38] Chr2:211441135..211441136 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.3558+1G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV000023698]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003466872]	Chr2:210654103 [GRCh38] Chr2:211518827 [GRCh37] Chr2:2q34	pathogenic
CPS1, IVS34DS, T-C, +2	single nucleotide variant	Congenital hyperammonemia, type I [RCV000023699]	Chr2:2q35	pathogenic
NM_001875.5(CPS1):c.840G>C (p.Lys280Asn)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000002519]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003466783]	Chr2:210590234 [GRCh38] Chr2:211454958 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000002520]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003466784]	Chr2:210600636 [GRCh38] Chr2:211465360 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.130C>T (p.Gln44Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000002521]\|Pulmonary hypertension, neonatal, susceptibility to [RCV004566674]	Chr2:210573301 [GRCh38] Chr2:211438025 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.1010A>G (p.His337Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000002522]	Chr2:210591893 [GRCh38] Chr2:211456617 [GRCh37] Chr2:2q34	pathogenic
NG_008285.1:g.(115464_117421)_(119286_120194)del	deletion	Congenital hyperammonemia, type I [RCV000002523]	Chr2:2q35	pathogenic
NM_001875.5(CPS1):c.4196A>C (p.Asn1399Thr)	single nucleotide variant	CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM [RCV000002524]\|Pulmonary hypertension, neonatal, susceptibility to [RCV000785788]	Chr2:210675762 [GRCh38] Chr2:211540486 [GRCh37] Chr2:2q34	risk factor\|benign
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000002526]	Chr2:210640045 [GRCh38] Chr2:211504769 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
CPS1, 1-BP DEL, 1528G	deletion	Congenital hyperammonemia, type I [RCV000002527]	Chr2:2q35	pathogenic
NM_001875.5(CPS1):c.2359C>T (p.Arg787Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000002528]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003466785]	Chr2:210608527 [GRCh38] Chr2:211473251 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000546829]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003470800]\|not provided [RCV004701651]\|not specified [RCV002282230]	Chr2:210650422 [GRCh38] Chr2:211515146 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.3537C>T (p.Asp1179=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000936034]\|not provided [RCV001697909]	Chr2:210654081 [GRCh38] Chr2:211518805 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.4098C>T (p.Ile1366=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001494090]	Chr2:210668281 [GRCh38] Chr2:211533005 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000552829]\|Pulmonary hypertension, neonatal, susceptibility to [RCV004569088]\|not specified [RCV002298663]	Chr2:210612132 [GRCh38] Chr2:211476856 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000553758]\|Congenital hyperammonemia, type I [RCV002491114]\|not specified [RCV003323617]	Chr2:210639165 [GRCh38] Chr2:211503889 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000548691]	Chr2:210588133 [GRCh38] Chr2:211452857 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000702328]\|Congenital hyperammonemia, type I [RCV002481697]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003470649]\|not provided [RCV000520090]	Chr2:210595535 [GRCh38] Chr2:211460259 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.4(CPS1):c.3559-695T>G	single nucleotide variant	Lung cancer [RCV000091849]	Chr2:210655830 [GRCh38] Chr2:211520554 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.4(CPS1):c.4102-1441G>T	single nucleotide variant	Lung cancer [RCV000091850]	Chr2:210673461 [GRCh38] Chr2:211538185 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4102-563G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV000666369]	Chr2:210674339 [GRCh38] Chr2:211539063 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.1571G>T (p.Gly524Val)	single nucleotide variant	Variant of unknown significance [RCV000054541]	Chr2:210600576 [GRCh38] Chr2:211465300 [GRCh37] Chr2:2q34	uncertain significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	copy number gain	See cases [RCV000051119]	Chr2:194898783..236473913 [GRCh38] Chr2:195763507..237382556 [GRCh37] Chr2:195471752..237047295 [NCBI36] Chr2:2q32.3-37.3	pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]\|See cases [RCV000052603]	Chr2:198095810..211803453 [GRCh38] Chr2:198960534..212668178 [GRCh37] Chr2:198668779..212376423 [NCBI36] Chr2:2q33.1-34	pathogenic
GRCh38/hg38 2q33.2-35(chr2:203010732-214671878)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]\|See cases [RCV000052607]	Chr2:203010732..214671878 [GRCh38] Chr2:203875455..215536602 [GRCh37] Chr2:203583700..215244847 [NCBI36] Chr2:2q33.2-35	pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	copy number gain	See cases [RCV000052958]	Chr2:188818195..242065208 [GRCh38] Chr2:189682921..243007359 [GRCh37] Chr2:189391166..242656032 [NCBI36] Chr2:2q32.2-37.3	pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	copy number gain	See cases [RCV000052959]	Chr2:190310736..241892770 [GRCh38] Chr2:191175462..242834921 [GRCh37] Chr2:190883707..242483594 [NCBI36] Chr2:2q32.2-37.3	pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]\|See cases [RCV000052960]	Chr2:193122313..241074980 [GRCh38] Chr2:193987039..242014395 [GRCh37] Chr2:193695284..241663068 [NCBI36] Chr2:2q32.3-37.3	pathogenic
NM_001875.4(CPS1):c.3849G>A (p.Met1283Ile)	single nucleotide variant	Malignant melanoma [RCV000065397]	Chr2:210660577 [GRCh38] Chr2:211525301 [GRCh37] Chr2:211233546 [NCBI36] Chr2:2q34	not provided
NM_001875.4(CPS1):c.544A>G (p.Lys182Glu)	single nucleotide variant	Malignant melanoma [RCV000060483]	Chr2:210582632 [GRCh38] Chr2:211447356 [GRCh37] Chr2:211155601 [NCBI36] Chr2:2q34	not provided
NM_001875.5(CPS1):c.937A>G (p.Met313Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000294563]\|not provided [RCV000116833]	Chr2:210590896 [GRCh38] Chr2:211455620 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000364698]\|Congenital hyperammonemia, type I [RCV002490791]\|not provided [RCV000589181]\|not specified [RCV000116829]	Chr2:210591913 [GRCh38] Chr2:211456637 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.1032C>T (p.Thr344=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000302372]\|not provided [RCV004707955]\|not specified [RCV000116830]	Chr2:210591915 [GRCh38] Chr2:211456639 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.2679C>G (p.Gly893=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000347604]\|not provided [RCV000509201]\|not specified [RCV000116831]	Chr2:210616533 [GRCh38] Chr2:211481257 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity\|not provided
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn)	single nucleotide variant	CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM [RCV003334453]\|Congenital hyperammonemia, type I [RCV000274786]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003334452]\|not provided [RCV004707956]\|not specified [RCV000116832]	Chr2:210675783 [GRCh38] Chr2:210675783..210675784 [GRCh38] Chr2:211540507 [GRCh37] Chr2:211540507..211540508 [GRCh37] Chr2:2q34	risk factor\|benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.2193-15G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000385755]\|not provided [RCV000585997]\|not specified [RCV000124590]	Chr2:210608346 [GRCh38] Chr2:211473070 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2448C>T (p.Cys816=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000287983]\|not provided [RCV004708003]\|not specified [RCV000124591]	Chr2:210612173 [GRCh38] Chr2:211476897 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.2830-18A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV000624936]\|not provided [RCV004708004]\|not specified [RCV000124593]	Chr2:210639132 [GRCh38] Chr2:211503856 [GRCh37] Chr2:2q34	benign
NM_001122633.3(CPS1):c.-16+12G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV000625219]\|not provided [RCV004708005]\|not specified [RCV000124595]	Chr2:210477778 [GRCh38] Chr2:211342502 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1413dup (p.Asn472fs)	duplication	Congenital hyperammonemia, type I [RCV000668963]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465488]	Chr2:210599423..210599424 [GRCh38] Chr2:211464147..211464148 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2696T>C (p.Met899Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001302571]	Chr2:210637710 [GRCh38] Chr2:211502434 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	copy number gain	See cases [RCV000135934]	Chr2:210579676..242126245 [GRCh38] Chr2:211444400..243059659 [GRCh37] Chr2:211152645..242717069 [NCBI36] Chr2:2q34-37.3	pathogenic
GRCh38/hg38 2q33.3-34(chr2:207058886-211245603)x1	copy number loss	See cases [RCV000139325]	Chr2:207058886..211245603 [GRCh38] Chr2:207923610..212110328 [GRCh37] Chr2:207631855..211818573 [NCBI36] Chr2:2q33.3-34	pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	copy number gain	See cases [RCV000139446]	Chr2:180513793..224302848 [GRCh38] Chr2:181378520..225167565 [GRCh37] Chr2:181086765..224875809 [NCBI36] Chr2:2q31.3-36.2	pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	copy number loss	See cases [RCV000141254]	Chr2:192938826..215705052 [GRCh38] Chr2:193803552..216569775 [GRCh37] Chr2:193511797..216278020 [NCBI36] Chr2:2q32.3-35	pathogenic
GRCh38/hg38 2q34(chr2:210165293-211245653)x3	copy number gain	See cases [RCV000140836]	Chr2:210165293..211245653 [GRCh38] Chr2:211030017..212110378 [GRCh37] Chr2:210738262..211818623 [NCBI36] Chr2:2q34	uncertain significance
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	copy number gain	See cases [RCV000142307]	Chr2:189436149..241841232 [GRCh38] Chr2:190300875..242783384 [GRCh37] Chr2:190009120..242432057 [NCBI36] Chr2:2q32.2-37.3	pathogenic
NM_001875.5(CPS1):c.3031GTG[2] (p.Val1013del)	microsatellite	Congenital hyperammonemia, type I [RCV000149915]	Chr2:210642554..210642556 [GRCh38] Chr2:211507278..211507280 [GRCh37] Chr2:2q34	pathogenic\|not provided
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000655217]\|not specified [RCV000192871]	Chr2:210656592 [GRCh38] Chr2:211521316 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.486T>C (p.Tyr162=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000374734]\|not provided [RCV001531951]\|not specified [RCV000185813]	Chr2:210579728 [GRCh38] Chr2:211444452 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.1214C>A (p.Thr405Asn)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001081327]\|Congenital hyperammonemia, type I [RCV002485263]\|not provided [RCV000224925]	Chr2:210594557 [GRCh38] Chr2:211459281 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.4275-10A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV000276425]\|not provided [RCV004708083]\|not specified [RCV000185815]	Chr2:210676997 [GRCh38] Chr2:211541721 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.-4_-3insTTC	insertion	Congenital hyperammonemia, type I [RCV000377067]\|not provided [RCV000509330]\|not specified [RCV000185816]	Chr2:210556728..210556729 [GRCh38] Chr2:211421452..211421453 [GRCh37] Chr2:2q34	benign\|not provided
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)	single nucleotide variant	CPS1-related disorder [RCV003927652]\|Congenital hyperammonemia, type I [RCV000330453]\|Congenital hyperammonemia, type I [RCV000764360]\|not provided [RCV000177871]	Chr2:210675818 [GRCh38] Chr2:211540542 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.1982-8A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000263462]	Chr2:210606723 [GRCh38] Chr2:211471447 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000396067]\|not provided [RCV004708177]\|not specified [RCV000275942]	Chr2:210591913 [GRCh38] Chr2:211456637 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.3558+7G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV000396436]	Chr2:210654109 [GRCh38] Chr2:211518833 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser)	single nucleotide variant	CPS1-related disorder [RCV003917701]\|Congenital hyperammonemia, type I [RCV000874425]\|not provided [RCV004710574]	Chr2:210600635 [GRCh38] Chr2:211465359 [GRCh37] Chr2:2q34	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.1913G>C (p.Arg638Pro)	single nucleotide variant	not provided [RCV000185818]	Chr2:210605178 [GRCh38] Chr2:211469902 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2407C>A (p.Arg803Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005025302]\|not provided [RCV000185819]\|not specified [RCV004586608]	Chr2:210612132 [GRCh38] Chr2:211476856 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000667001]\|Inborn genetic diseases [RCV003243005]\|not provided [RCV004692782]\|not specified [RCV002271449]	Chr2:210573338 [GRCh38] Chr2:211438062 [GRCh37] Chr2:2q34	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.528+9A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV000293388]\|not specified [RCV000603825]	Chr2:210579779 [GRCh38] Chr2:211444503 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.4068G>A (p.Lys1356=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001425137]	Chr2:210668251 [GRCh38] Chr2:211532975 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.5C>T (p.Thr2Met)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000268597]\|Inborn genetic diseases [RCV002523106]\|not provided [RCV000523694]	Chr2:210556738 [GRCh38] Chr2:211421462 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.4260C>G (p.Leu1420=)	single nucleotide variant	CPS1-related disorder [RCV003957719]\|Congenital hyperammonemia, type I [RCV000371062]\|not provided [RCV004708495]\|not specified [RCV000425716]	Chr2:210675826 [GRCh38] Chr2:211540550 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 2q34-35(chr2:211515125-215797412)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207327]	Chr2:211515125..215797412 [GRCh37] Chr2:2q34-35	pathogenic\|uncertain significance
NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000670316]\|Congenital hyperammonemia, type I [RCV002493106]	Chr2:210660513 [GRCh38] Chr2:211525237 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2415T>G (p.Phe805Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000669454]	Chr2:210612140 [GRCh38] Chr2:211476864 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000669529]\|not provided [RCV003117474]	Chr2:210594530 [GRCh38] Chr2:211459254 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000669578]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465493]	Chr2:210606910 [GRCh38] Chr2:211471634 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000403764]\|not provided [RCV000224218]\|not specified [RCV000430042]	Chr2:210648491 [GRCh38] Chr2:211513215 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000764359]\|Congenital hyperammonemia, type I [RCV000986999]\|not provided [RCV000224815]\|not specified [RCV001844093]	Chr2:210656609 [GRCh38] Chr2:211521333 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.4404+4T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV000326845]\|not provided [RCV004708496]\|not specified [RCV000607346]	Chr2:210677140 [GRCh38] Chr2:211541864 [GRCh37] Chr2:2q34	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000669965]\|Congenital hyperammonemia, type I [RCV002499168]	Chr2:210677983 [GRCh38] Chr2:211542707 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2265C>T (p.Ser755=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000332458]\|Congenital hyperammonemia, type I [RCV002504128]\|not provided [RCV004710876]\|not specified [RCV000436611]	Chr2:210608433 [GRCh38] Chr2:211473157 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)	single nucleotide variant	CPS1-related disorder [RCV003940348]\|Congenital hyperammonemia, type I [RCV000338838]\|Inborn genetic diseases [RCV002521380]\|not provided [RCV000514724]	Chr2:210577488 [GRCh38] Chr2:211442212 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.74C>T (p.Ala25Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001373549]	Chr2:210556807 [GRCh38] Chr2:211421531 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)	single nucleotide variant	CPS1-related disorder [RCV003409396]\|Congenital hyperammonemia, type I [RCV000667844]\|Congenital hyperammonemia, type I [RCV005025411]\|Inborn genetic diseases [RCV004609339]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003469214]\|not provided [RCV000344019]	Chr2:210606897 [GRCh38] Chr2:211471621 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.945C>G (p.Asn315Lys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000344940]	Chr2:210590904 [GRCh38] Chr2:211455628 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.487G>T (p.Gly163Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002519139]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003469230]\|not provided [RCV000317058]	Chr2:210579729 [GRCh38] Chr2:211444453 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000668782]\|Inborn genetic diseases [RCV002531211]	Chr2:210640045 [GRCh38] Chr2:211504769 [GRCh37] Chr2:2q34	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.3G>T (p.Met1Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000669628]	Chr2:210556736 [GRCh38] Chr2:211421460 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2944G>A (p.Gly982Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000669754]	Chr2:210640044 [GRCh38] Chr2:211504768 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3481-7G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV000354131]\|not provided [RCV003221931]\|not specified [RCV000606745]	Chr2:210654018 [GRCh38] Chr2:211518742 [GRCh37] Chr2:2q34	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.1529del (p.Gly510fs)	deletion	Congenital hyperammonemia, type I [RCV000669266]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465490]	Chr2:210599540 [GRCh38] Chr2:211464264 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000284376]	Chr2:210642645 [GRCh38] Chr2:211507369 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.295C>A (p.Pro99Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000279135]\|not provided [RCV000732850]	Chr2:210576404 [GRCh38] Chr2:211441128 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3405-29A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001543262]\|not provided [RCV000509331]\|not specified [RCV000243690]	Chr2:210650334 [GRCh38] Chr2:211515058 [GRCh37] Chr2:2q34	benign\|not provided
NM_001875.5(CPS1):c.3481-8C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000304016]\|not provided [RCV000416013]\|not specified [RCV000248647]	Chr2:210654017 [GRCh38] Chr2:211518741 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.3558+38C>G	single nucleotide variant	not specified [RCV000253601]	Chr2:210654140 [GRCh38] Chr2:211518864 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.-76A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV000271665]	Chr2:210556658 [GRCh38] Chr2:211421382 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2265C>A (p.Ser755=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000296134]\|not provided [RCV004708139]\|not specified [RCV000252194]	Chr2:210608433 [GRCh38] Chr2:211473157 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.3756+45C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001543263]\|not provided [RCV000509536]\|not specified [RCV000245638]	Chr2:210658733 [GRCh38] Chr2:211523457 [GRCh37] Chr2:2q34	benign\|not provided
NM_001875.5(CPS1):c.*976C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000268767]	Chr2:210678961 [GRCh38] Chr2:211543685 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3928-8del	deletion	Congenital hyperammonemia, type I [RCV000624938]\|Congenital hyperammonemia, type I [RCV002500891]\|not provided [RCV001660220]\|not specified [RCV000248100]	Chr2:210663104 [GRCh38] Chr2:211527828 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000560165]\|not provided [RCV004808655]\|not specified [RCV000253072]	Chr2:210674926 [GRCh38] Chr2:211539650 [GRCh37] Chr2:2q34	benign\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.1087-7C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000267073]\|not specified [RCV000601231]	Chr2:210592872 [GRCh38] Chr2:211457596 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000353585]\|Inborn genetic diseases [RCV002523107]	Chr2:210599490 [GRCh38] Chr2:211464214 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.*438T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV000335404]\|not provided [RCV004708498]	Chr2:210678423 [GRCh38] Chr2:211543147 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.*235A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000377862]	Chr2:210678220 [GRCh38] Chr2:211542944 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1359+7G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV000317416]\|not specified [RCV000429592]	Chr2:210595589 [GRCh38] Chr2:211460313 [GRCh37] Chr2:2q34	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.*380C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV000379437]\|not provided [RCV004709898]	Chr2:210678365 [GRCh38] Chr2:211543089 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.2192+6A>T	single nucleotide variant	CPS1-related disorder [RCV003940351]\|Congenital hyperammonemia, type I [RCV000318568]\|Inborn genetic diseases [RCV002523108]\|not specified [RCV000443839]	Chr2:210606947 [GRCh38] Chr2:211471671 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.2394C>A (p.Val798=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000382383]\|not provided [RCV004708494]\|not specified [RCV000418912]	Chr2:210612119 [GRCh38] Chr2:211476843 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.783C>T (p.Ile261=)	single nucleotide variant	CPS1-related disorder [RCV003940350]\|Congenital hyperammonemia, type I [RCV000404752]\|not provided [RCV003430850]\|not specified [RCV000603668]	Chr2:210590177 [GRCh38] Chr2:211454901 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.948-6C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000405565]\|not provided [RCV003992278]\|not specified [RCV000435030]	Chr2:210591825 [GRCh38] Chr2:211456549 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.*692C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV000405913]\|not provided [RCV004708499]	Chr2:210678677 [GRCh38] Chr2:211543401 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1068C>G (p.Val356=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000361706]\|not provided [RCV004708493]\|not specified [RCV000426377]	Chr2:210591951 [GRCh38] Chr2:211456675 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.-29T>G	single nucleotide variant	CPS1-related disorder [RCV003922436]\|Congenital hyperammonemia, type I [RCV000322463]\|not provided [RCV004708492]\|not specified [RCV000437055]	Chr2:210556705 [GRCh38] Chr2:211421429 [GRCh37] Chr2:2q34	benign\|uncertain significance
NM_001875.5(CPS1):c.*946C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000363373]	Chr2:210678931 [GRCh38] Chr2:211543655 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.186C>T (p.Gly62=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000323691]	Chr2:210573357 [GRCh38] Chr2:211438081 [GRCh37] Chr2:2q34	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.*346T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV000343467]\|not provided [RCV004708497]	Chr2:210678331 [GRCh38] Chr2:211543055 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.-128G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV000366183]\|not provided [RCV001536835]	Chr2:210556606 [GRCh38] Chr2:211421330 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000309973]\|Congenital hyperammonemia, type I [RCV002487483]\|Inborn genetic diseases [RCV002521381]\|not provided [RCV000731747]	Chr2:210591904 [GRCh38] Chr2:211456628 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.*187C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000328001]\|not provided [RCV004694528]	Chr2:210678172 [GRCh38] Chr2:211542896 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)	single nucleotide variant	CPS1-related disorder [RCV003940349]\|Congenital hyperammonemia, type I [RCV000348342]\|not provided [RCV000731749]	Chr2:210588073 [GRCh38] Chr2:211452797 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.*754T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV000350470]\|not provided [RCV004708500]	Chr2:210678739 [GRCh38] Chr2:211543463 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.*849A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV000313255]	Chr2:210678834 [GRCh38] Chr2:211543558 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.195C>T (p.Ser65=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000373435]\|not provided [RCV000865101]\|not specified [RCV000600453]	Chr2:210573366 [GRCh38] Chr2:211438090 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.1030_1032delinsTCT (p.Thr344Ser)	indel	not specified [RCV000271134]	Chr2:210591913..210591915 [GRCh38] Chr2:211456637..211456639 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.*1117A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV000264867]	Chr2:210679102 [GRCh38] Chr2:211543826 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala)	indel	Congenital hyperammonemia, type I [RCV002494816]\|Congenital hyperammonemia, type I [RCV003243036]\|not provided [RCV000509533]\|not specified [RCV000321490]	Chr2:210591913..210591915 [GRCh38] Chr2:211456637..211456639 [GRCh37] Chr2:2q34	benign\|likely benign\|not provided
NM_001875.5(CPS1):c.*387C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000280091]	Chr2:210678372 [GRCh38] Chr2:211543096 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs)	deletion	Congenital hyperammonemia, type I [RCV000589986]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465325]	Chr2:210639203..210639215 [GRCh38] Chr2:211503927..211503939 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003096357]\|Inborn genetic diseases [RCV003096356]\|not provided [RCV002283302]	Chr2:210556807 [GRCh38] Chr2:211421531 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.593A>C (p.Gln198Pro)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001279818]	Chr2:210582681 [GRCh38] Chr2:211447405 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1727C>A (p.Ala576Glu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001279823]	Chr2:210602221 [GRCh38] Chr2:211466945 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3552T>G (p.Asp1184Glu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001279831]	Chr2:210654096 [GRCh38] Chr2:211518820 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2048C>G (p.Thr683Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001279827]	Chr2:210606797 [GRCh38] Chr2:211471521 [GRCh37] Chr2:2q34	uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3	copy number gain	not provided [RCV000752802]	Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_001875.5(CPS1):c.2644C>T (p.Arg882Cys)	single nucleotide variant	Inborn genetic diseases [RCV004024773]\|not provided [RCV000598159]	Chr2:210616498 [GRCh38] Chr2:211481222 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.*74T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV000291570]	Chr2:210678059 [GRCh38] Chr2:211542783 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.*5G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV000381355]	Chr2:210677990 [GRCh38] Chr2:211542714 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.*1068G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000364624]	Chr2:210679053 [GRCh38] Chr2:211543777 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.*777A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV000402906]	Chr2:210678762 [GRCh38] Chr2:211543486 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.*311A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV000283734]	Chr2:210678296 [GRCh38] Chr2:211543020 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2749A>G (p.Ile917Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000407756]	Chr2:210637763 [GRCh38] Chr2:211502487 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.*1040C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000309912]	Chr2:210679025 [GRCh38] Chr2:211543749 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3141+15del	deletion	Congenital hyperammonemia, type I [RCV000339021]\|not provided [RCV000513937]	Chr2:210642676 [GRCh38] Chr2:211507400 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.3874C>T (p.His1292Tyr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000355449]	Chr2:210660602 [GRCh38] Chr2:211525326 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.*739T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV000300206]	Chr2:210678724 [GRCh38] Chr2:211543448 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3857A>T (p.Glu1286Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000300569]	Chr2:210660585 [GRCh38] Chr2:211525309 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2352A>G (p.Thr784=)	single nucleotide variant	CPS1-related disorder [RCV003917974]\|Congenital hyperammonemia, type I [RCV000870959]\|not specified [RCV000605709]	Chr2:210608520 [GRCh38] Chr2:211473244 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.2339G>A (p.Arg780His)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001380980]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003470360]\|not provided [RCV000414131]	Chr2:210608507 [GRCh38] Chr2:211473231 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
GRCh37/hg19 2q34(chr2:211445066-211674837)x3	copy number gain	See cases [RCV000446715]	Chr2:211445066..211674837 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=)	single nucleotide variant	CPS1-related disorder [RCV003959932]\|Congenital hyperammonemia, type I [RCV001141169]\|not provided [RCV003437186]\|not specified [RCV000423605]	Chr2:210642581 [GRCh38] Chr2:211507305 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.1131C>T (p.His377=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001426070]\|not specified [RCV000423649]	Chr2:210592923 [GRCh38] Chr2:211457647 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3666+7A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002522533]\|not provided [RCV004711085]\|not specified [RCV000437625]	Chr2:210656639 [GRCh38] Chr2:211521363 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2391+18T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001523199]\|not specified [RCV000417670]	Chr2:210608577 [GRCh38] Chr2:211473301 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1116C>T (p.Phe372=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000935304]\|not specified [RCV000424095]	Chr2:210592908 [GRCh38] Chr2:211457632 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.1165-5T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV000655215]\|not specified [RCV000427725]	Chr2:210594503 [GRCh38] Chr2:211459227 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.712-11C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001138060]\|not specified [RCV000441841]	Chr2:210590095 [GRCh38] Chr2:211454819 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.529-4A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000655214]\|not specified [RCV000434885]	Chr2:210582613 [GRCh38] Chr2:211447337 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.2454A>G (p.Pro818=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001138160]\|not specified [RCV000442111]	Chr2:210612179 [GRCh38] Chr2:211476903 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.1878G>T (p.Val626=)	single nucleotide variant	not specified [RCV000428560]	Chr2:210605143 [GRCh38] Chr2:211469867 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.381+17C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002062662]\|not specified [RCV000432189]	Chr2:210576507 [GRCh38] Chr2:211441231 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.2391+20C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001406902]\|not specified [RCV000425423]	Chr2:210608579 [GRCh38] Chr2:211473303 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.712-16T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001520296]\|not provided [RCV001720127]	Chr2:210590090 [GRCh38] Chr2:211454814 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.3033G>C (p.Val1011=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000875525]\|not provided [RCV001703738]	Chr2:210642557 [GRCh38] Chr2:211507281 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.4(CPS1):c.-78986G>A	single nucleotide variant	not provided [RCV004708824]\|not specified [RCV000439820]	Chr2:210477748 [GRCh38] Chr2:211342472 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.4300C>T (p.Leu1434=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002062489]\|not specified [RCV000433074]	Chr2:210677032 [GRCh38] Chr2:211541756 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2829+20C>G	single nucleotide variant	not specified [RCV000436571]	Chr2:210637863 [GRCh38] Chr2:211502587 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2544C>T (p.Ser848=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000954241]\|not specified [RCV000444262]	Chr2:210612269 [GRCh38] Chr2:211476993 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1437G>A (p.Ala479=)	single nucleotide variant	CPS1-related disorder [RCV003922824]\|Congenital hyperammonemia, type I [RCV000551892]\|not provided [RCV004711084]\|not specified [RCV000430416]	Chr2:210599449 [GRCh38] Chr2:211464173 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.3928-16T>C	single nucleotide variant	not specified [RCV000430693]	Chr2:210663107 [GRCh38] Chr2:211527831 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2025C>T (p.Ala675=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000877257]\|not provided [RCV003221975]\|not specified [RCV000441076]	Chr2:210606774 [GRCh38] Chr2:211471498 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3	copy number gain	See cases [RCV000448271]	Chr2:169829974..215521436 [GRCh37] Chr2:2q31.1-35	pathogenic
NM_001875.5(CPS1):c.2830-19_2830-15del	microsatellite	not specified [RCV000480158]	Chr2:210639124..210639128 [GRCh38] Chr2:211503848..211503852 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.209_216dup (p.Phe73fs)	duplication	Congenital hyperammonemia, type I [RCV000477877]	Chr2:210573379..210573380 [GRCh38] Chr2:211438103..211438104 [GRCh37] Chr2:2q34	likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	copy number gain	See cases [RCV000512056]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_001875.5(CPS1):c.1087-1G>T	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003470553]\|not provided [RCV000484453]	Chr2:210592878 [GRCh38] Chr2:211457602 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.3404+9_3404+10del	deletion	Congenital hyperammonemia, type I [RCV000892027]\|not specified [RCV000481687]	Chr2:210648548..210648549 [GRCh38] Chr2:211513272..211513273 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.1550-17_1550-13del	deletion	Congenital hyperammonemia, type I [RCV002056775]\|not specified [RCV000486091]	Chr2:210600538..210600542 [GRCh38] Chr2:211465262..211465266 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.127-20del	deletion	not specified [RCV000481909]	Chr2:210573277 [GRCh38] Chr2:211438001 [GRCh37] Chr2:2q34	likely benign
GRCh37/hg19 2q34(chr2:210983281-211744945)x3	copy number gain	See cases [RCV000511488]	Chr2:210983281..211744945 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3928-9_3928-8del	deletion	Congenital hyperammonemia, type I [RCV000624937]\|not provided [RCV001701021]\|not specified [RCV000493048]	Chr2:210663104..210663105 [GRCh38] Chr2:211527828..211527829 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000698946]\|Congenital hyperammonemia, type I [RCV002485710]	Chr2:210600632 [GRCh38] Chr2:211465356 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.1926del (p.Asp642fs)	deletion	Congenital hyperammonemia, type I [RCV000690237]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003470657]\|not provided [RCV000523444]	Chr2:210605191 [GRCh38] Chr2:211469915 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	copy number gain	See cases [RCV000511212]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_001875.5(CPS1):c.3980G>A (p.Cys1327Tyr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000578300]	Chr2:210663175 [GRCh38] Chr2:211527899 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.2441G>A (p.Arg814Gln)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000533392]	Chr2:210612166 [GRCh38] Chr2:211476890 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3622C>G (p.Leu1208Val)	single nucleotide variant	Inborn genetic diseases [RCV003295737]	Chr2:210656588 [GRCh38] Chr2:211521312 [GRCh37] Chr2:2q34	uncertain significance
NM_001122633.2(CPS1):c.3946-18delT	deletion	Congenital hyperammonemia, type I [RCV000624938]	Chr2:210663105 [GRCh38] Chr2:211527829 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2421G>A (p.Glu807=)	single nucleotide variant	CPS1-related disorder [RCV003962777]\|Congenital hyperammonemia, type I [RCV000655216]\|not provided [RCV004711218]\|not specified [RCV000605152]	Chr2:210612146 [GRCh38] Chr2:211476870 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.1864G>A (p.Val622Met)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000672370]	Chr2:210605129 [GRCh38] Chr2:211469853 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4274+2T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV000672280]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465514]	Chr2:210675842 [GRCh38] Chr2:211540566 [GRCh37] Chr2:2q34	likely pathogenic\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.471+14T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603063]\|not specified [RCV000612432]	Chr2:210577524 [GRCh38] Chr2:211442248 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.927C>T (p.Tyr309=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003767576]\|not specified [RCV000616136]	Chr2:210590886 [GRCh38] Chr2:211455610 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.126+18T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002064039]\|not specified [RCV000613296]	Chr2:210556877 [GRCh38] Chr2:211421601 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2830-19T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603066]\|not specified [RCV000610562]	Chr2:210639131 [GRCh38] Chr2:211503855 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1716T>C (p.Asp572=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001471702]\|not specified [RCV000610785]	Chr2:210602210 [GRCh38] Chr2:211466934 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.127-13A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603064]\|not specified [RCV000613620]	Chr2:210573285 [GRCh38] Chr2:211438009 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1263+8TG[4]	microsatellite	Congenital hyperammonemia, type I [RCV003497863]\|not specified [RCV000608559]	Chr2:210594613..210594614 [GRCh38] Chr2:211459337..211459338 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1569A>G (p.Arg523=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000655218]\|not provided [RCV001697892]	Chr2:210600574 [GRCh38] Chr2:211465298 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000539406]	Chr2:210595530 [GRCh38] Chr2:211460254 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000655211]	Chr2:210605177 [GRCh38] Chr2:211469901 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.3723C>T (p.Asn1241=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000655212]	Chr2:210658655 [GRCh38] Chr2:211523379 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2376G>C (p.Met792Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000655213]	Chr2:210608544 [GRCh38] Chr2:211473268 [GRCh37] Chr2:2q34	likely pathogenic
NM_001122633.3(CPS1):c.-74_-54dup	duplication	not specified [RCV000614619]	Chr2:210477693..210477694 [GRCh38] Chr2:211342417..211342418 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.236+15T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002063965]\|not specified [RCV000611956]	Chr2:210573422 [GRCh38] Chr2:211438146 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.236+5G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV000540344]	Chr2:210573412 [GRCh38] Chr2:211438136 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1359+19T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002531168]\|not specified [RCV000599967]	Chr2:210595601 [GRCh38] Chr2:211460325 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4003-12A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002064089]\|not specified [RCV000600954]	Chr2:210668174 [GRCh38] Chr2:211532898 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.902G>A (p.Gly301Glu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000664568]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465435]	Chr2:210590861 [GRCh38] Chr2:211455585 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.3443T>A (p.Met1148Lys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000672099]	Chr2:210650401 [GRCh38] Chr2:211515125 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1760G>A (p.Arg587His)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000664516]\|Congenital hyperammonemia, type I [RCV005027773]	Chr2:210602254 [GRCh38] Chr2:211466978 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.1086+1G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV000672677]	Chr2:210591970 [GRCh38] Chr2:211456694 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1355T>C (p.Met452Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000672790]	Chr2:210595578 [GRCh38] Chr2:211460302 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000672818]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465519]	Chr2:210612165 [GRCh38] Chr2:211476889 [GRCh37] Chr2:2q34	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs)	deletion	Congenital hyperammonemia, type I [RCV000673303]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465526]\|not provided [RCV005054241]	Chr2:210637823..210637824 [GRCh38] Chr2:211502547..211502548 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.3185del (p.Asn1062fs)	deletion	Congenital hyperammonemia, type I [RCV000671123]	Chr2:210647904 [GRCh38] Chr2:211512628 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.840_840+5dup	duplication	Congenital hyperammonemia, type I [RCV000671367]	Chr2:210590232..210590233 [GRCh38] Chr2:211454956..211454957 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3558_3558+1dup	duplication	Congenital hyperammonemia, type I [RCV000671406]	Chr2:210654100..210654101 [GRCh38] Chr2:211518824..211518825 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4003-2A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000668983]	Chr2:210668184 [GRCh38] Chr2:211532908 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000670333]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465498]\|not specified [RCV003330888]	Chr2:210675798 [GRCh38] Chr2:211540522 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.-3delinsTTCC	indel	Congenital hyperammonemia, type I [RCV000671156]	Chr2:210556731 [GRCh38] Chr2:211421455 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.594_595del (p.Asn199fs)	deletion	Congenital hyperammonemia, type I [RCV000669673]	Chr2:210582681..210582682 [GRCh38] Chr2:211447405..211447406 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.2392-1G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000671803]	Chr2:210612116 [GRCh38] Chr2:211476840 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.301del (p.Ile101fs)	deletion	Congenital hyperammonemia, type I [RCV000671809]	Chr2:210576410 [GRCh38] Chr2:211441134 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000665179]	Chr2:210658615 [GRCh38] Chr2:211523339 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000673875]\|Congenital hyperammonemia, type I [RCV005027823]\|Inborn genetic diseases [RCV001267425]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465531]	Chr2:210637824 [GRCh38] Chr2:211502548 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000673929]	Chr2:210556758 [GRCh38] Chr2:211421482 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.2732G>A (p.Gly911Glu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000667982]	Chr2:210637746 [GRCh38] Chr2:211502470 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000668071]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465481]\|not provided [RCV001797121]	Chr2:210675738 [GRCh38] Chr2:211540462 [GRCh37] Chr2:2q34	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.711+1G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV000674114]	Chr2:210588148 [GRCh38] Chr2:211452872 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.763G>T (p.Glu255Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000666827]\|Congenital hyperammonemia, type I [RCV005027785]	Chr2:210590157 [GRCh38] Chr2:211454881 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.236+1G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000672330]\|Congenital hyperammonemia, type I [RCV005027815]	Chr2:210573408 [GRCh38] Chr2:211438132 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3047A>G (p.Asn1016Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000666208]	Chr2:210642571 [GRCh38] Chr2:211507295 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.798del (p.Asn267fs)	deletion	Congenital hyperammonemia, type I [RCV000674756]	Chr2:210590189 [GRCh38] Chr2:211454913 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2740G>C (p.Asp914His)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000671041]\|Congenital hyperammonemia, type I [RCV005027809]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465506]	Chr2:210637754 [GRCh38] Chr2:211502478 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NC_000002.12:g.210477765T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV000671224]	Chr2:210477765 [GRCh38] Chr2:211342489 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000665437]\|Congenital hyperammonemia, type I [RCV005027777]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465442]	Chr2:210592937 [GRCh38] Chr2:211457661 [GRCh37] Chr2:2q34	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.4002+2T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV000670805]	Chr2:210663199 [GRCh38] Chr2:211527923 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1312G>A (p.Ala438Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000667522]	Chr2:210595535 [GRCh38] Chr2:211460259 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1775dup (p.Gly594fs)	duplication	Congenital hyperammonemia, type I [RCV000665850]	Chr2:210602268..210602269 [GRCh38] Chr2:211466992..211466993 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.1323dup (p.Asp442Ter)	duplication	Congenital hyperammonemia, type I [RCV000674202]	Chr2:210595543..210595544 [GRCh38] Chr2:211460267..211460268 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000667858]\|Congenital hyperammonemia, type I [RCV000763066]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465478]	Chr2:210660512 [GRCh38] Chr2:211525236 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000667866]	Chr2:210642517 [GRCh38] Chr2:211507241 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1263+5G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV000672757]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465517]	Chr2:210594611 [GRCh38] Chr2:211459335 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.4102-559G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV000666367]	Chr2:210674343 [GRCh38] Chr2:211539067 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1895T>G (p.Ile632Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000674945]\|not specified [RCV003235342]	Chr2:210605160 [GRCh38] Chr2:211469884 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000671654]	Chr2:210663147 [GRCh38] Chr2:211527871 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000674394]\|Congenital hyperammonemia, type I [RCV005027826]	Chr2:210590106 [GRCh38] Chr2:211454830 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.2957T>C (p.Ile986Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000674512]	Chr2:210640057 [GRCh38] Chr2:211504781 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2446T>C (p.Cys816Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000667981]	Chr2:210612171 [GRCh38] Chr2:211476895 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2537C>T (p.Pro846Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000673373]	Chr2:210612262 [GRCh38] Chr2:211476986 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.520C>T (p.Arg174Trp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000672320]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465515]	Chr2:210579762 [GRCh38] Chr2:211444486 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.2429A>G (p.Gln810Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000674758]	Chr2:210612154 [GRCh38] Chr2:211476878 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.4101+2T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV000668329]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465484]	Chr2:210668286 [GRCh38] Chr2:211533010 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.2227del (p.Ala742_Leu743insTer)	deletion	Congenital hyperammonemia, type I [RCV000673682]	Chr2:210608393 [GRCh38] Chr2:211473117 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000673871]\|Inborn genetic diseases [RCV001267424]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465530]\|not specified [RCV003317334]	Chr2:210594544 [GRCh38] Chr2:211459268 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.3141+1G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV000674031]	Chr2:210642666 [GRCh38] Chr2:211507390 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000666361]\|not provided [RCV001756125]	Chr2:210647986 [GRCh38] Chr2:211512710 [GRCh37] Chr2:2q34	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.4102-561T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV000666368]	Chr2:210674341 [GRCh38] Chr2:211539065 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2391+1G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV000668711]	Chr2:210608560 [GRCh38] Chr2:211473284 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1837-8A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV000674344]\|Congenital hyperammonemia, type I [RCV005027825]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465535]	Chr2:210605094 [GRCh38] Chr2:211469818 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.2738C>T (p.Ser913Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000674444]\|Congenital hyperammonemia, type I [RCV005027827]	Chr2:210637752 [GRCh38] Chr2:211502476 [GRCh37] Chr2:2q34	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.4471T>C (p.Tyr1491His)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000674961]\|not specified [RCV003330896]	Chr2:210677953 [GRCh38] Chr2:211542677 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2193-1G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000673757]	Chr2:210608360 [GRCh38] Chr2:211473084 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4056del (p.Thr1353fs)	deletion	Congenital hyperammonemia, type I [RCV000674800]	Chr2:210668238 [GRCh38] Chr2:211532962 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2579ACA[1] (p.Asn861del)	microsatellite	Congenital hyperammonemia, type I [RCV000666430]	Chr2:210616433..210616435 [GRCh38] Chr2:211481157..211481159 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3375del (p.Cys1126fs)	deletion	Congenital hyperammonemia, type I [RCV000674980]	Chr2:210648508 [GRCh38] Chr2:211513232 [GRCh37] Chr2:2q34	likely pathogenic
GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	copy number gain	not provided [RCV000682166]	Chr2:205169148..219149293 [GRCh37] Chr2:2q33.3-35	pathogenic
NM_001875.5(CPS1):c.1025ACA[1] (p.Asn343del)	microsatellite	Congenital hyperammonemia, type I [RCV000664520]	Chr2:210591908..210591910 [GRCh38] Chr2:211456632..211456634 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000664614]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465436]	Chr2:210640059 [GRCh38] Chr2:211504783 [GRCh37] Chr2:2q34	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.3194C>A (p.Ala1065Glu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000674361]\|not provided [RCV003222095]\|not specified [RCV004702306]	Chr2:210647915 [GRCh38] Chr2:211512639 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.259C>T (p.Pro87Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000666729]\|not specified [RCV004768524]	Chr2:210576368 [GRCh38] Chr2:211441092 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4003-1G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV000667061]\|Congenital hyperammonemia, type I [RCV005027787]	Chr2:210668185 [GRCh38] Chr2:211532909 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.126+1G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV000667346]	Chr2:210556860 [GRCh38] Chr2:211421584 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3559-2A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV000667803]	Chr2:210656523 [GRCh38] Chr2:211521247 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.303T>G (p.Ile101Met)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000690642]	Chr2:210576412 [GRCh38] Chr2:211441136 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000702231]\|Inborn genetic diseases [RCV004026587]\|not provided [RCV005429275]	Chr2:210674912 [GRCh38] Chr2:211539636 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.586A>G (p.Asn196Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000707704]	Chr2:210582674 [GRCh38] Chr2:211447398 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)	single nucleotide variant	CPS1-related disorder [RCV004752992]\|Congenital hyperammonemia, type I [RCV000687855]\|Congenital hyperammonemia, type I [RCV000764358]\|Inborn genetic diseases [RCV004026279]	Chr2:210640009 [GRCh38] Chr2:211504733 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.1648T>C (p.Phe550Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000688098]	Chr2:210600653 [GRCh38] Chr2:211465377 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.713G>A (p.Arg238Gln)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000707498]\|Inborn genetic diseases [RCV002532878]\|not provided [RCV001570243]	Chr2:210590107 [GRCh38] Chr2:211454831 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3069C>G (p.Asp1023Glu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000707548]	Chr2:210642593 [GRCh38] Chr2:211507317 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4382T>A (p.Ile1461Asn)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000699442]	Chr2:210677114 [GRCh38] Chr2:211541838 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.528G>A (p.Lys176=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000703633]	Chr2:210579770 [GRCh38] Chr2:211444494 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2569-114A>G	single nucleotide variant	not provided [RCV001574459]	Chr2:210616309 [GRCh38] Chr2:211481033 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4102-404dup	duplication	not provided [RCV001546455]	Chr2:210674484..210674485 [GRCh38] Chr2:211539208..211539209 [GRCh37] Chr2:2q34	likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3	copy number gain	not provided [RCV000752804]	Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
Single allele	deletion	Trichorhinophalangeal dysplasia type I [RCV000735898]	Chr2:209425211..211567929 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.127-93T>A	single nucleotide variant	not provided [RCV001530600]	Chr2:210573205 [GRCh38] Chr2:211437929 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1164+99A>G	single nucleotide variant	not provided [RCV001649050]	Chr2:210593055 [GRCh38] Chr2:211457779 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3558+206A>C	single nucleotide variant	not provided [RCV001708608]	Chr2:210654308 [GRCh38] Chr2:211519032 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2392-133dup	duplication	not provided [RCV001691399]	Chr2:210611971..210611972 [GRCh38] Chr2:211476695..211476696 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2601T>C (p.Ile867=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000871675]	Chr2:210616455 [GRCh38] Chr2:211481179 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.867A>G (p.Pro289=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001481947]	Chr2:210590826 [GRCh38] Chr2:211455550 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4101+62A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001543264]\|not provided [RCV001712995]	Chr2:210668346 [GRCh38] Chr2:211533070 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1360-230G>A	single nucleotide variant	not provided [RCV001534364]	Chr2:210599142 [GRCh38] Chr2:211463866 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.237-91C>T	single nucleotide variant	not provided [RCV001666408]	Chr2:210576255 [GRCh38] Chr2:211440979 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2200T>A (p.Leu734Met)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001580672]	Chr2:210608368 [GRCh38] Chr2:211473092 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2798del (p.Arg932_Leu933insTer)	deletion	Congenital hyperammonemia, type I [RCV001553672]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003470863]	Chr2:210637811 [GRCh38] Chr2:211502535 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.4102-419_4102-418del	deletion	not provided [RCV001581463]	Chr2:210674483..210674484 [GRCh38] Chr2:211539207..211539208 [GRCh37] Chr2:2q34	likely benign
Single allele	duplication	Neurodevelopmental disorder [RCV000787403]	Chr2:188926928..225298653 [GRCh37] Chr2:2q32.1-36.2	pathogenic
NM_001875.5(CPS1):c.3481-25G>A	single nucleotide variant	not provided [RCV001551927]	Chr2:210654000 [GRCh38] Chr2:211518724 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3538G>A (p.Ala1180Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001580674]	Chr2:210654082 [GRCh38] Chr2:211518806 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3405-97C>T	single nucleotide variant	not provided [RCV001578112]	Chr2:210650266 [GRCh38] Chr2:211514990 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3724G>A (p.Val1242Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001095786]	Chr2:210658656 [GRCh38] Chr2:211523380 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1164+226G>T	single nucleotide variant	not provided [RCV001612599]	Chr2:210593182 [GRCh38] Chr2:211457906 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.4405-132A>T	single nucleotide variant	not provided [RCV001725538]	Chr2:210677755 [GRCh38] Chr2:211542479 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.334C>T (p.Leu112=)	single nucleotide variant	CPS1-related disorder [RCV003962907]\|Congenital hyperammonemia, type I [RCV000973788]	Chr2:210576443 [GRCh38] Chr2:211441167 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000944831]	Chr2:210606892 [GRCh38] Chr2:211471616 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.3216T>C (p.Gly1072=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000945038]	Chr2:210647937 [GRCh38] Chr2:211512661 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1029C>T (p.Asn343=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000943008]	Chr2:210591912 [GRCh38] Chr2:211456636 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3336+7A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001411807]	Chr2:210648064 [GRCh38] Chr2:211512788 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3757-10A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV000907044]	Chr2:210660475 [GRCh38] Chr2:211525199 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.1827C>T (p.Leu609=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001453844]	Chr2:210602321 [GRCh38] Chr2:211467045 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2316G>A (p.Lys772=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001397615]	Chr2:210608484 [GRCh38] Chr2:211473208 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3465G>A (p.Ala1155=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000928167]	Chr2:210650423 [GRCh38] Chr2:211515147 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.942C>A (p.Ala314=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000923677]	Chr2:210590901 [GRCh38] Chr2:211455625 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.234A>G (p.Gly78=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000927643]	Chr2:210573405 [GRCh38] Chr2:211438129 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.2568+8G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV001426178]	Chr2:210612301 [GRCh38] Chr2:211477025 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.39A>C (p.Thr13=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001448418]	Chr2:210556772 [GRCh38] Chr2:211421496 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.487G>A (p.Gly163Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000877370]	Chr2:210579729 [GRCh38] Chr2:211444453 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2727G>A (p.Glu909=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001456506]	Chr2:210637741 [GRCh38] Chr2:211502465 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1227C>A (p.Val409=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000944125]	Chr2:210594570 [GRCh38] Chr2:211459294 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.705A>G (p.Leu235=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001502413]	Chr2:210588141 [GRCh38] Chr2:211452865 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3757-7T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001426144]	Chr2:210660478 [GRCh38] Chr2:211525202 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2475C>T (p.Pro825=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000981438]	Chr2:210612200 [GRCh38] Chr2:211476924 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.655A>G (p.Lys219Glu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001061049]	Chr2:210588091 [GRCh38] Chr2:211452815 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3480+5T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001055416]	Chr2:210650443 [GRCh38] Chr2:211515167 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1110del (p.Phe371fs)	deletion	Congenital hyperammonemia, type I [RCV001059094]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003467798]	Chr2:210592900 [GRCh38] Chr2:211457624 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.3915T>A (p.Tyr1305Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001069987]	Chr2:210660643 [GRCh38] Chr2:211525367 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.1365A>C (p.Glu455Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001057659]\|Inborn genetic diseases [RCV003380826]	Chr2:210599377 [GRCh38] Chr2:211464101 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.994A>T (p.Ile332Phe)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001057660]	Chr2:210591877 [GRCh38] Chr2:211456601 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3903del (p.Pro1302fs)	deletion	Congenital hyperammonemia, type I [RCV001057661]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003467787]	Chr2:210660630 [GRCh38] Chr2:211525354 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.4373A>T (p.Asp1458Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001070727]	Chr2:210677105 [GRCh38] Chr2:211541829 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1063A>G (p.Asn355Asp)	single nucleotide variant	CPS1-related disorder [RCV004753039]\|Congenital hyperammonemia, type I [RCV005029433]\|not specified [RCV004586922]	Chr2:210591946 [GRCh38] Chr2:211456670 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.1982-1G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV000779302]	Chr2:210606730 [GRCh38] Chr2:211471454 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2153G>A (p.Arg718Lys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001825532]\|not specified [RCV000781316]	Chr2:210606902 [GRCh38] Chr2:211471626 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer)	deletion	Congenital hyperammonemia, type I [RCV000781315]	Chr2:210590124 [GRCh38] Chr2:211454848 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.2733G>A (p.Gly911=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000939959]	Chr2:210637747 [GRCh38] Chr2:211502471 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2161C>A (p.Arg721=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001490633]	Chr2:210606910 [GRCh38] Chr2:211471634 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3303G>A (p.Val1101=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001273931]	Chr2:210648024 [GRCh38] Chr2:211512748 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met)	single nucleotide variant	CPS1-related disorder [RCV003928372]\|Congenital hyperammonemia, type I [RCV000865123]\|not provided [RCV001585815]	Chr2:210642553 [GRCh38] Chr2:211507277 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser)	single nucleotide variant	CPS1-related disorder [RCV003955702]\|Congenital hyperammonemia, type I [RCV000873150]\|Intellectual disability [RCV001260693]	Chr2:210650424 [GRCh38] Chr2:211515148 [GRCh37] Chr2:2q34	pathogenic\|benign\|likely benign\|uncertain significance
NM_001875.5(CPS1):c.2392-9G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV000918395]	Chr2:210612108 [GRCh38] Chr2:211476832 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4488T>C (p.Ala1496=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001427493]	Chr2:210677970 [GRCh38] Chr2:211542694 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2829+8A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001497188]	Chr2:210637851 [GRCh38] Chr2:211502575 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000887881]	Chr2:210602208 [GRCh38] Chr2:211466932 [GRCh37] Chr2:2q34	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.2959+8_2959+14del	deletion	Congenital hyperammonemia, type I [RCV000900556]\|not provided [RCV001551201]	Chr2:210640063..210640069 [GRCh38] Chr2:211504787..211504793 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.711+7A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV000932520]	Chr2:210588154 [GRCh38] Chr2:211452878 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1708-5G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV000926064]\|Congenital hyperammonemia, type I [RCV002495556]	Chr2:210602197 [GRCh38] Chr2:211466921 [GRCh37] Chr2:2q34	benign\|likely benign\|uncertain significance
NM_001875.5(CPS1):c.2771C>G (p.Thr924Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000872537]	Chr2:210637785 [GRCh38] Chr2:211502509 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.381+9A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV000981437]	Chr2:210576499 [GRCh38] Chr2:211441223 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2959+1del	deletion	Congenital hyperammonemia, type I [RCV000778586]	Chr2:210640059 [GRCh38] Chr2:211504783 [GRCh37] Chr2:2q34	uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	copy number gain	Mosaic trisomy 2 [RCV002280628]	Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_001875.5(CPS1):c.1836+2T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV000792675]	Chr2:210602332 [GRCh38] Chr2:211467056 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1981+116T>C	single nucleotide variant	not provided [RCV000835607]	Chr2:210605362 [GRCh38] Chr2:211470086 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.4102-324C>T	single nucleotide variant	not provided [RCV000835608]	Chr2:210674578 [GRCh38] Chr2:211539302 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1200A>G (p.Lys400=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001088511]\|not provided [RCV000842121]	Chr2:210594543 [GRCh38] Chr2:211459267 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.1520G>A (p.Gly507Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000810708]	Chr2:210599532 [GRCh38] Chr2:211464256 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4102-355T>C	single nucleotide variant	not provided [RCV000836186]	Chr2:210674547 [GRCh38] Chr2:211539271 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu)	single nucleotide variant	CPS1-related disorder [RCV004753059]\|Congenital hyperammonemia, type I [RCV000871416]\|Congenital hyperammonemia, type I [RCV002501309]\|not specified [RCV002265906]	Chr2:210616477 [GRCh38] Chr2:211481201 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.2549G>A (p.Arg850His)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000816596]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003467478]	Chr2:210612274 [GRCh38] Chr2:211476998 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.622-78T>C	single nucleotide variant	not provided [RCV000836551]	Chr2:210587980 [GRCh38] Chr2:211452704 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3667-160A>G	single nucleotide variant	not provided [RCV000843789]	Chr2:210658439 [GRCh38] Chr2:211523163 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.4102-476G>A	single nucleotide variant	not provided [RCV000843790]	Chr2:210674426 [GRCh38] Chr2:211539150 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2548C>G (p.Arg850Gly)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000986996]	Chr2:210612273 [GRCh38] Chr2:211476997 [GRCh37] Chr2:2q34	pathogenic
NM_001875.4(CPS1):c.-79320T>G	single nucleotide variant	not provided [RCV000830593]	Chr2:210477414 [GRCh38] Chr2:211342138 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2596G>T (p.Glu866Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000818676]	Chr2:210616450 [GRCh38] Chr2:211481174 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3687G>T (p.Lys1229Asn)	single nucleotide variant	CPS1-related disorder [RCV003908129]\|Congenital hyperammonemia, type I [RCV001084622]\|not provided [RCV000837155]	Chr2:210658619 [GRCh38] Chr2:211523343 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.254C>A (p.Thr85Asn)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000795691]	Chr2:210576363 [GRCh38] Chr2:211441087 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.121G>T (p.Val41Phe)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000803314]\|Inborn genetic diseases [RCV003258979]	Chr2:210556854 [GRCh38] Chr2:211421578 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000813104]\|Congenital hyperammonemia, type I [RCV002495136]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003467464]	Chr2:210612132 [GRCh38] Chr2:211476856 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.4002+80T>C	single nucleotide variant	not provided [RCV000835877]	Chr2:210663277 [GRCh38] Chr2:211528001 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1416T>C (p.Asn472=)	single nucleotide variant	CPS1-related disorder [RCV003948038]\|Congenital hyperammonemia, type I [RCV001086539]\|not provided [RCV000842459]	Chr2:210599428 [GRCh38] Chr2:211464152 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.104G>A (p.Gly35Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000797807]	Chr2:210556837 [GRCh38] Chr2:211421561 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4404+5A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001141272]\|not provided [RCV000840108]	Chr2:210677141 [GRCh38] Chr2:211541865 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.622-3C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV000824578]	Chr2:210588055 [GRCh38] Chr2:211452779 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1632G>A (p.Thr544=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001087740]\|not provided [RCV000827180]	Chr2:210600637 [GRCh38] Chr2:211465361 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001138269]\|Congenital hyperammonemia, type I [RCV002482262]\|not provided [RCV001576809]\|not specified [RCV004526084]	Chr2:210658614 [GRCh38] Chr2:211523338 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.*848G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV001136558]	Chr2:210678833 [GRCh38] Chr2:211543557 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.528+2T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV000812446]\|Pulmonary hypertension, neonatal, susceptibility to [RCV004569681]	Chr2:210579772 [GRCh38] Chr2:211444496 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1207del (p.Ala403fs)	deletion	Congenital hyperammonemia, type I [RCV000986993]	Chr2:210594550 [GRCh38] Chr2:211459274 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.1400C>T (p.Ala467Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001095785]\|Inborn genetic diseases [RCV003283973]	Chr2:210599412 [GRCh38] Chr2:211464136 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1291G>A (p.Gly431Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000986994]\|not specified [RCV005236501]	Chr2:210595514 [GRCh38] Chr2:211460238 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.1693T>A (p.Phe565Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000814764]	Chr2:210600698 [GRCh38] Chr2:211465422 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2960-166A>G	single nucleotide variant	not provided [RCV000833574]	Chr2:210642318 [GRCh38] Chr2:211507042 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4274+299T>G	single nucleotide variant	not provided [RCV000833575]	Chr2:210676139 [GRCh38] Chr2:211540863 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.236+265G>A	single nucleotide variant	not provided [RCV000843784]	Chr2:210573672 [GRCh38] Chr2:211438396 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.841-182T>C	single nucleotide variant	not provided [RCV000843785]	Chr2:210590618 [GRCh38] Chr2:211455342 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.228C>G (p.Gly76=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001396759]	Chr2:210573399 [GRCh38] Chr2:211438123 [GRCh37] Chr2:2q34	likely benign
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	copy number gain	See cases [RCV000790568]	Chr2:210779657..239879183 [GRCh37] Chr2:2q34-37.3	pathogenic
NM_001875.5(CPS1):c.1282C>T (p.Leu428=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001393664]	Chr2:210595505 [GRCh38] Chr2:211460229 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.381+2T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV000800633]	Chr2:210576492 [GRCh38] Chr2:211441216 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3928-17T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002067451]\|not provided [RCV000827391]	Chr2:210663106 [GRCh38] Chr2:211527830 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.2391G>T (p.Glu797Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001138159]	Chr2:210608559 [GRCh38] Chr2:211473283 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3250G>C (p.Asp1084His)	single nucleotide variant	not provided [RCV001091191]	Chr2:210647971 [GRCh38] Chr2:211512695 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.*808G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001136556]	Chr2:210678793 [GRCh38] Chr2:211543517 [GRCh37] Chr2:2q34	uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	copy number gain	not provided [RCV001005349]	Chr2:163233162..211927188 [GRCh37] Chr2:2q24.2-34	pathogenic
NM_001875.5(CPS1):c.2688-12A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001138591]	Chr2:210637690 [GRCh38] Chr2:211502414 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.3112G>C (p.Glu1038Gln)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001066295]	Chr2:210642636 [GRCh38] Chr2:211507360 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4173G>A (p.Thr1391=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001138696]	Chr2:210675739 [GRCh38] Chr2:211540463 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.1329C>G (p.Tyr443Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000986995]	Chr2:210595552 [GRCh38] Chr2:211460276 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2720C>A (p.Ala907Glu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001201548]	Chr2:210637734 [GRCh38] Chr2:211502458 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3133C>T (p.His1045Tyr)	single nucleotide variant	not provided [RCV001200443]	Chr2:210642657 [GRCh38] Chr2:211507381 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1673A>G (p.Asn558Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001242517]\|Inborn genetic diseases [RCV004609702]	Chr2:210600678 [GRCh38] Chr2:211465402 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4357C>T (p.Arg1453Trp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001241984]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003469460]	Chr2:210677089 [GRCh38] Chr2:211541813 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.883A>G (p.Thr295Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001239356]	Chr2:210590842 [GRCh38] Chr2:211455566 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.1949T>C (p.Met650Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001226816]	Chr2:210605214 [GRCh38] Chr2:211469938 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1039G>T (p.Ala347Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001241213]\|not provided [RCV004692296]	Chr2:210591922 [GRCh38] Chr2:211456646 [GRCh37] Chr2:2q34	benign\|uncertain significance
NM_001875.5(CPS1):c.3395A>G (p.Tyr1132Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001206611]	Chr2:210648531 [GRCh38] Chr2:211513255 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1109C>G (p.Pro370Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001240552]\|Inborn genetic diseases [RCV005328644]	Chr2:210592901 [GRCh38] Chr2:211457625 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001240876]\|Inborn genetic diseases [RCV002568535]\|not provided [RCV001788431]	Chr2:210573325 [GRCh38] Chr2:211438049 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.3523G>A (p.Glu1175Lys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001247723]\|Congenital hyperammonemia, type I [RCV005029839]\|not specified [RCV002222686]	Chr2:210654067 [GRCh38] Chr2:211518791 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.158G>C (p.Gly53Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002549977]\|not provided [RCV000997654]	Chr2:210573329 [GRCh38] Chr2:211438053 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3608C>T (p.Ser1203Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001246067]\|Congenital hyperammonemia, type I [RCV005029835]\|not provided [RCV002508796]	Chr2:210656574 [GRCh38] Chr2:211521298 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.2066G>A (p.Arg689His)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001242448]\|Inborn genetic diseases [RCV004609701]	Chr2:210606815 [GRCh38] Chr2:211471539 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3125A>C (p.Asp1042Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000986997]\|not provided [RCV003442136]	Chr2:210642649 [GRCh38] Chr2:211507373 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.2116A>G (p.Thr706Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001142902]\|Inborn genetic diseases [RCV002557044]	Chr2:210606865 [GRCh38] Chr2:211471589 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.*829T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001136557]	Chr2:210678814 [GRCh38] Chr2:211543538 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001228848]\|Inborn genetic diseases [RCV002563151]	Chr2:210650430 [GRCh38] Chr2:211515154 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001141042]\|Congenital hyperammonemia, type I [RCV002482268]\|not provided [RCV005429303]	Chr2:210592946 [GRCh38] Chr2:211457670 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.1165-12A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001141043]	Chr2:210594496 [GRCh38] Chr2:211459220 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2458A>G (p.Ile820Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001247840]\|Inborn genetic diseases [RCV002564128]	Chr2:210612183 [GRCh38] Chr2:211476907 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.3666+4A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003105172]	Chr2:210656636 [GRCh38] Chr2:211521360 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.407A>G (p.Tyr136Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003104700]	Chr2:210577446 [GRCh38] Chr2:211442170 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3927+149T>C	single nucleotide variant	not provided [RCV001550633]	Chr2:210660804 [GRCh38] Chr2:211525528 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.382-134del	deletion	not provided [RCV001576780]	Chr2:210577275 [GRCh38] Chr2:211441999 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.528+40GT[11]	microsatellite	not provided [RCV001565527]	Chr2:210579810..210579811 [GRCh38] Chr2:211444534..211444535 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.948-64A>C	single nucleotide variant	not provided [RCV001577856]	Chr2:210591767 [GRCh38] Chr2:211456491 [GRCh37] Chr2:2q34	likely benign
NC_000002.11:g.(?_211503854)_(211503959_?)del	deletion	Congenital hyperammonemia, type I [RCV003107519]	Chr2:211503854..211503959 [GRCh37] Chr2:2q34	uncertain significance
NC_000002.11:g.(?_211421433)_(211473293_?)del	deletion	Congenital hyperammonemia, type I [RCV003107520]	Chr2:211421433..211473293 [GRCh37] Chr2:2q34	pathogenic
NC_000002.11:g.(?_211469816)_(211477027_?)del	deletion	Congenital hyperammonemia, type I [RCV003107521]	Chr2:211469816..211477027 [GRCh37] Chr2:2q34	pathogenic
NC_000002.11:g.(?_211507198)_(211515172_?)del	deletion	Congenital hyperammonemia, type I [RCV003107522]	Chr2:211507198..211515172 [GRCh37] Chr2:2q34	pathogenic
NC_000002.11:g.(?_211456088)_(211479828_?)dup	duplication	Congenital hyperammonemia, type I [RCV003107523]	Chr2:211456088..211479828 [GRCh37] Chr2:2q34	pathogenic
NC_000002.11:g.(?_211421458)_(211542709_?)dup	duplication	Congenital hyperammonemia, type I [RCV003107524]	Chr2:211421458..211542709 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2260G>A (p.Val754Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003106739]	Chr2:210608428 [GRCh38] Chr2:211473152 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1185C>A (p.Phe395Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV004813320]	Chr2:210594528 [GRCh38] Chr2:211459252 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.961C>T (p.Pro321Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV004813424]	Chr2:210591844 [GRCh38] Chr2:211456568 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3480+88C>A	single nucleotide variant	not provided [RCV001590785]	Chr2:210650526 [GRCh38] Chr2:211515250 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.126+124G>A	single nucleotide variant	not provided [RCV001658718]	Chr2:210556983 [GRCh38] Chr2:211421707 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.4102-420del	deletion	not provided [RCV001688284]	Chr2:210674472 [GRCh38] Chr2:211539196 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2392-134_2392-133dup	duplication	not provided [RCV001671197]	Chr2:210611971..210611972 [GRCh38] Chr2:211476695..211476696 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3337-79C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001543260]\|not provided [RCV001655840]	Chr2:210648394 [GRCh38] Chr2:211513118 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3405-92G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001543261]\|not provided [RCV001655841]	Chr2:210650271 [GRCh38] Chr2:211514995 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.711+166A>G	single nucleotide variant	not provided [RCV001561031]	Chr2:210588313 [GRCh38] Chr2:211453037 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.948-241C>T	single nucleotide variant	not provided [RCV001555711]	Chr2:210591590 [GRCh38] Chr2:211456314 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4003-207C>T	single nucleotide variant	not provided [RCV001534833]	Chr2:210667979 [GRCh38] Chr2:211532703 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1359+120A>C	single nucleotide variant	not provided [RCV001561781]	Chr2:210595702 [GRCh38] Chr2:211460426 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.381+281A>G	single nucleotide variant	not provided [RCV001561871]	Chr2:210576771 [GRCh38] Chr2:211441495 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1549+268C>T	single nucleotide variant	not provided [RCV001657445]	Chr2:210599829 [GRCh38] Chr2:211464553 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3927+41A>G	single nucleotide variant	not provided [RCV001717670]	Chr2:210660696 [GRCh38] Chr2:211525420 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2830-159C>G	single nucleotide variant	not provided [RCV001551387]	Chr2:210638991 [GRCh38] Chr2:211503715 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4102-418C>A	single nucleotide variant	not provided [RCV001562771]	Chr2:210674484 [GRCh38] Chr2:211539208 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2688-142G>A	single nucleotide variant	not provided [RCV001565275]	Chr2:210637560 [GRCh38] Chr2:211502284 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2895+136G>A	single nucleotide variant	not provided [RCV001665436]	Chr2:210639351 [GRCh38] Chr2:211504075 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4003-109TG[15]	microsatellite	not provided [RCV001714297]	Chr2:210668076..210668077 [GRCh38] Chr2:211532800..211532801 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3559-8_3559-7del	deletion	not provided [RCV001621792]	Chr2:210656504..210656505 [GRCh38] Chr2:211521228..211521229 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2026G>A (p.Glu676Lys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001580673]	Chr2:210606775 [GRCh38] Chr2:211471499 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1086+113C>T	single nucleotide variant	not provided [RCV001574435]	Chr2:210592082 [GRCh38] Chr2:211456806 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2568+9T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001465870]	Chr2:210612302 [GRCh38] Chr2:211477026 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3921A>G (p.Ala1307=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000945208]	Chr2:210660649 [GRCh38] Chr2:211525373 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1782G>T (p.Gly594=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001443634]	Chr2:210602276 [GRCh38] Chr2:211467000 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000887076]	Chr2:210668272 [GRCh38] Chr2:211532996 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.390T>A (p.Gly130=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000927172]	Chr2:210577429 [GRCh38] Chr2:211442153 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.891C>A (p.Asn297Lys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001236291]	Chr2:210590850 [GRCh38] Chr2:211455574 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3272T>G (p.Ile1091Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001244948]	Chr2:210647993 [GRCh38] Chr2:211512717 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4412A>T (p.Lys1471Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001245254]	Chr2:210677894 [GRCh38] Chr2:211542618 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.785C>T (p.Ala262Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001245256]\|Inborn genetic diseases [RCV005318688]	Chr2:210590179 [GRCh38] Chr2:211454903 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.2375del (p.Met792fs)	deletion	Congenital hyperammonemia, type I [RCV001043431]	Chr2:210608543 [GRCh38] Chr2:211473267 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3558+8C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001143012]	Chr2:210654110 [GRCh38] Chr2:211518834 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.636C>T (p.Tyr212=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000933898]	Chr2:210588072 [GRCh38] Chr2:211452796 [GRCh37] Chr2:2q34	likely benign
NM_001122633.3(CPS1):c.-15-338G>T	single nucleotide variant	not provided [RCV001572018]	Chr2:210556381 [GRCh38] Chr2:211421105 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3404+151A>G	single nucleotide variant	not provided [RCV001551163]	Chr2:210648691 [GRCh38] Chr2:211513415 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4102-420dup	duplication	not provided [RCV001551509]	Chr2:210674471..210674472 [GRCh38] Chr2:211539195..211539196 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.471+241C>T	single nucleotide variant	not provided [RCV001557597]	Chr2:210577751 [GRCh38] Chr2:211442475 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3927+205C>T	single nucleotide variant	not provided [RCV001657553]	Chr2:210660860 [GRCh38] Chr2:211525584 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2474C>T (p.Pro825Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001563715]	Chr2:210612199 [GRCh38] Chr2:211476923 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1087-147A>G	single nucleotide variant	not provided [RCV001553217]	Chr2:210592732 [GRCh38] Chr2:211457456 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3666+66T>C	single nucleotide variant	not provided [RCV001550311]	Chr2:210656698 [GRCh38] Chr2:211521422 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1549+264A>G	single nucleotide variant	not provided [RCV001636465]	Chr2:210599825 [GRCh38] Chr2:211464549 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.4161+298A>T	single nucleotide variant	not provided [RCV001556286]	Chr2:210675259 [GRCh38] Chr2:211539983 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2392-133del	deletion	not provided [RCV001716764]	Chr2:210611972 [GRCh38] Chr2:211476696 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3666+76_3666+77dup	duplication	not provided [RCV001636535]	Chr2:210656693..210656694 [GRCh38] Chr2:211521417..211521418 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1708-98C>G	single nucleotide variant	not provided [RCV001717452]	Chr2:210602104 [GRCh38] Chr2:211466828 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1708-97A>T	single nucleotide variant	not provided [RCV001716199]	Chr2:210602105 [GRCh38] Chr2:211466829 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.471+72C>T	single nucleotide variant	not provided [RCV001717039]	Chr2:210577582 [GRCh38] Chr2:211442306 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2895+259C>T	single nucleotide variant	not provided [RCV001538733]	Chr2:210639474 [GRCh38] Chr2:211504198 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.841-243A>G	single nucleotide variant	not provided [RCV001660913]	Chr2:210590557 [GRCh38] Chr2:211455281 [GRCh37] Chr2:2q34	benign
NM_001122633.3(CPS1):c.-15-321C>A	single nucleotide variant	not provided [RCV001596014]	Chr2:210556398 [GRCh38] Chr2:211421122 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2830-83T>G	single nucleotide variant	not provided [RCV001586654]	Chr2:210639067 [GRCh38] Chr2:211503791 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1360-297C>A	single nucleotide variant	not provided [RCV001710496]	Chr2:210599075 [GRCh38] Chr2:211463799 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.4405-86A>G	single nucleotide variant	not provided [RCV001675475]	Chr2:210677801 [GRCh38] Chr2:211542525 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.4102-419_4102-416del	deletion	not provided [RCV001673499]	Chr2:210674481..210674484 [GRCh38] Chr2:211539205..211539208 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1360-110G>A	single nucleotide variant	not provided [RCV001718275]	Chr2:210599262 [GRCh38] Chr2:211463986 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3142-119G>C	single nucleotide variant	not provided [RCV001686042]	Chr2:210647744 [GRCh38] Chr2:211512468 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2895+135C>T	single nucleotide variant	not provided [RCV001717993]	Chr2:210639350 [GRCh38] Chr2:211504074 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2568+201A>G	single nucleotide variant	not provided [RCV001716305]	Chr2:210612494 [GRCh38] Chr2:211477218 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2896-256A>G	single nucleotide variant	not provided [RCV001636078]	Chr2:210639740 [GRCh38] Chr2:211504464 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.*424A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001143112]	Chr2:210678409 [GRCh38] Chr2:211543133 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3521G>A (p.Arg1174Gln)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001143011]\|Inborn genetic diseases [RCV003353173]	Chr2:210654065 [GRCh38] Chr2:211518789 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2186C>T (p.Ala729Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001142903]	Chr2:210606935 [GRCh38] Chr2:211471659 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.*658A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001143114]\|not provided [RCV004709034]	Chr2:210678643 [GRCh38] Chr2:211543367 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2283_2287delinsA (p.Cys761_Glu763delinsTer)	indel	Congenital hyperammonemia, type I [RCV001193021]\|Congenital hyperammonemia, type I [RCV005029739]\|Pulmonary hypertension, neonatal, susceptibility to [RCV004570407]	Chr2:210608451..210608455 [GRCh38] Chr2:211473175..211473179 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.856C>T (p.Arg286Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001050602]	Chr2:210590815 [GRCh38] Chr2:211455539 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.*913G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001138796]	Chr2:210678898 [GRCh38] Chr2:211543622 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4094G>A (p.Gly1365Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001066296]	Chr2:210668277 [GRCh38] Chr2:211533001 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1003C>T (p.Gln335Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001045342]	Chr2:210591886 [GRCh38] Chr2:211456610 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3701T>A (p.Phe1234Tyr)	single nucleotide variant	not provided [RCV001169924]	Chr2:210658633 [GRCh38] Chr2:211523357 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3796T>C (p.Phe1266Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001138270]	Chr2:210660524 [GRCh38] Chr2:211525248 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.3174C>T (p.Gly1058=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001141171]	Chr2:210647895 [GRCh38] Chr2:211512619 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NC_000002.12:g.(?_210658579)_(210678005_?)del	deletion	Congenital hyperammonemia, type I [RCV001031851]	Chr2:211523303..211542729 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3358_3359del (p.Lys1120fs)	deletion	Congenital hyperammonemia, type I [RCV001174969]	Chr2:210648493..210648494 [GRCh38] Chr2:211513217..211513218 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.2895+126G>A	single nucleotide variant	not provided [RCV001614110]	Chr2:210639341 [GRCh38] Chr2:211504065 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.127-98G>T	single nucleotide variant	not provided [RCV001652607]	Chr2:210573200 [GRCh38] Chr2:211437924 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2932G>T (p.Val978Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001138592]	Chr2:210640032 [GRCh38] Chr2:211504756 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4019A>G (p.Glu1340Gly)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001138695]	Chr2:210668202 [GRCh38] Chr2:211532926 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.947+323A>G	single nucleotide variant	not provided [RCV001681781]	Chr2:210591229 [GRCh38] Chr2:210591229..210591230 [GRCh38] Chr2:211455953 [GRCh37] Chr2:211455953..211455954 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1164+2T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001647339]	Chr2:210592958 [GRCh38] Chr2:211457682 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.1550-291A>G	single nucleotide variant	not provided [RCV001583011]	Chr2:210600264 [GRCh38] Chr2:211464988 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.382-134dup	duplication	not provided [RCV001670383]	Chr2:210577274..210577275 [GRCh38] Chr2:211441998..211441999 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2193-200G>A	single nucleotide variant	not provided [RCV001671341]	Chr2:210608161 [GRCh38] Chr2:211472885 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1550-166G>A	single nucleotide variant	not provided [RCV001616095]	Chr2:210600389 [GRCh38] Chr2:211465113 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.4102-342G>A	single nucleotide variant	not provided [RCV001609970]	Chr2:210674560 [GRCh38] Chr2:211539284 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2830-138C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001543259]\|not provided [RCV001619955]	Chr2:210639012 [GRCh38] Chr2:211503736 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1165-127C>A	single nucleotide variant	not provided [RCV001611452]	Chr2:210594381 [GRCh38] Chr2:211459105 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.4003-109TG[16]	microsatellite	not provided [RCV001662996]	Chr2:210668076..210668077 [GRCh38] Chr2:211532800..211532801 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.381+212C>T	single nucleotide variant	not provided [RCV001650348]	Chr2:210576702 [GRCh38] Chr2:211441426 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3404+284C>T	single nucleotide variant	not provided [RCV001692875]	Chr2:210648824 [GRCh38] Chr2:211513548 [GRCh37] Chr2:2q34	benign
NM_001122633.3(CPS1):c.-15-179G>A	single nucleotide variant	not provided [RCV001725493]	Chr2:210556540 [GRCh38] Chr2:211421264 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.947+84T>C	single nucleotide variant	not provided [RCV001587200]	Chr2:210590990 [GRCh38] Chr2:211455714 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.840+42G>C	single nucleotide variant	not provided [RCV001574344]	Chr2:210590276 [GRCh38] Chr2:211455000 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1754T>C (p.Met585Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001070726]	Chr2:210602248 [GRCh38] Chr2:211466972 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.436A>G (p.Thr146Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001208483]	Chr2:210577475 [GRCh38] Chr2:211442199 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.3596C>A (p.Ala1199Glu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001217711]	Chr2:210656562 [GRCh38] Chr2:211521286 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3173G>C (p.Gly1058Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001049716]	Chr2:210647894 [GRCh38] Chr2:211512618 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2982G>C (p.Trp994Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001138593]	Chr2:210642506 [GRCh38] Chr2:211507230 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.*1087T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001138797]	Chr2:210679072 [GRCh38] Chr2:211543796 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4075C>T (p.Gln1359Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001234058]\|Pulmonary hypertension, neonatal, susceptibility to [RCV004570588]	Chr2:210668258 [GRCh38] Chr2:211532982 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.3428T>C (p.Phe1143Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001037193]	Chr2:210650386 [GRCh38] Chr2:211515110 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.773G>C (p.Gly258Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001054383]	Chr2:210590167 [GRCh38] Chr2:211454891 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.302T>C (p.Ile101Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001138059]\|Inborn genetic diseases [RCV004978042]	Chr2:210576411 [GRCh38] Chr2:211441135 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3481-7G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001143010]	Chr2:210654018 [GRCh38] Chr2:211518742 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.*314T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV001143111]	Chr2:210678299 [GRCh38] Chr2:211543023 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.*427C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001143113]	Chr2:210678412 [GRCh38] Chr2:211543136 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2693C>A (p.Ser898Tyr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001219244]	Chr2:210637707 [GRCh38] Chr2:211502431 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3336+1G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV001205119]\|Congenital hyperammonemia, type I [RCV002497695]	Chr2:210648058 [GRCh38] Chr2:211512782 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.2011A>G (p.Thr671Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001203507]	Chr2:210606760 [GRCh38] Chr2:211471484 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser)	single nucleotide variant	CPS1-related disorder [RCV003405345]\|Congenital hyperammonemia, type I [RCV001141173]\|not provided [RCV001772335]	Chr2:210648034 [GRCh38] Chr2:211512758 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 2q34(chr2:211289241-211376494)x1	copy number loss	not provided [RCV001005373]	Chr2:211289241..211376494 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2634del (p.Leu878fs)	deletion	Congenital hyperammonemia, type I [RCV001201653]	Chr2:210616488 [GRCh38] Chr2:211481212 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.*747A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001136555]	Chr2:210678732 [GRCh38] Chr2:211543456 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3286T>C (p.Leu1096=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001141172]	Chr2:210648007 [GRCh38] Chr2:211512731 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.1208C>G (p.Ala403Gly)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001230458]	Chr2:210594551 [GRCh38] Chr2:211459275 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2275T>A (p.Ser759Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001245745]\|not provided [RCV004692324]	Chr2:210608443 [GRCh38] Chr2:211473167 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.3928-15T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001138271]	Chr2:210663108 [GRCh38] Chr2:211527832 [GRCh37] Chr2:2q34	benign\|likely benign
NM_001875.5(CPS1):c.-4C>A	single nucleotide variant	CPS1-related disorder [RCV003963081]\|Congenital hyperammonemia, type I [RCV001142799]	Chr2:210556730 [GRCh38] Chr2:211421454 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.112C>T (p.Leu38Phe)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001142800]	Chr2:210556845 [GRCh38] Chr2:211421569 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001142901]\|Inborn genetic diseases [RCV004032722]\|not specified [RCV001806029]	Chr2:210605183 [GRCh38] Chr2:211469907 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.3486_3496del (p.Pro1163fs)	deletion	Congenital hyperammonemia, type I [RCV001039493]	Chr2:210654030..210654040 [GRCh38] Chr2:211518754..211518764 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3127A>G (p.Ile1043Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001141170]	Chr2:210642651 [GRCh38] Chr2:211507375 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.*274G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV001141273]	Chr2:210678259 [GRCh38] Chr2:211542983 [GRCh37] Chr2:2q34	uncertain significance
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	copy number loss	Chromosome 2q32-q33 deletion syndrome [RCV002280608]	Chr2:185697659..213002074 [GRCh37] Chr2:2q32.1-34	pathogenic
NM_001875.5(CPS1):c.2815C>T (p.Pro939Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001334966]\|Inborn genetic diseases [RCV004978347]	Chr2:210637829 [GRCh38] Chr2:211502553 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001334967]\|Congenital hyperammonemia, type I [RCV002504523]	Chr2:210642653 [GRCh38] Chr2:211507377 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3168dup (p.Gly1057fs)	duplication	Congenital hyperammonemia, type I [RCV001334968]	Chr2:210647887..210647888 [GRCh38] Chr2:211512611..211512612 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2201T>A (p.Leu734Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001263623]	Chr2:210608369 [GRCh38] Chr2:211473093 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2419G>T (p.Glu807Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001263624]	Chr2:210612144 [GRCh38] Chr2:211476868 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2556T>A (p.Tyr852Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001263625]	Chr2:210612281 [GRCh38] Chr2:211477005 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2616C>A (p.Tyr872Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001263626]	Chr2:210616470 [GRCh38] Chr2:211481194 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2633T>A (p.Leu878Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001263627]	Chr2:210616487 [GRCh38] Chr2:211481211 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2773G>T (p.Glu925Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001263629]	Chr2:210637787 [GRCh38] Chr2:211502511 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2853C>A (p.Tyr951Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001263630]	Chr2:210639173 [GRCh38] Chr2:211503897 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3457G>T (p.Glu1153Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001263918]	Chr2:210650415 [GRCh38] Chr2:211515139 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.3768T>A (p.Cys1256Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001263921]	Chr2:210660496 [GRCh38] Chr2:211525220 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2985T>A (p.Cys995Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001263914]	Chr2:210642509 [GRCh38] Chr2:211507233 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3132C>A (p.Tyr1044Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001263915]	Chr2:210642656 [GRCh38] Chr2:211507380 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3147T>A (p.Cys1049Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001263916]	Chr2:210647868 [GRCh38] Chr2:211512592 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3349G>T (p.Glu1117Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001263917]	Chr2:210648485 [GRCh38] Chr2:211513209 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3637C>T (p.Gln1213Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001263920]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003469491]	Chr2:210656603 [GRCh38] Chr2:211521327 [GRCh37] Chr2:2q34	likely pathogenic
GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1	copy number loss	not provided [RCV001258576]	Chr2:204445619..212580788 [GRCh37] Chr2:2q33.2-34	pathogenic
NM_001875.5(CPS1):c.4066A>T (p.Lys1356Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001264081]	Chr2:210668249 [GRCh38] Chr2:211532973 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3610G>T (p.Gly1204Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001263919]	Chr2:210656576 [GRCh38] Chr2:211521300 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4099C>T (p.Gln1367Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001264082]	Chr2:210668282 [GRCh38] Chr2:211533006 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1363G>T (p.Glu455Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001264191]	Chr2:210599375 [GRCh38] Chr2:211464099 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1610C>A (p.Ser537Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001264193]	Chr2:210600615 [GRCh38] Chr2:211465339 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001264195]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003469494]	Chr2:210605197 [GRCh38] Chr2:211469921 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.2140G>T (p.Glu714Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001264197]	Chr2:210606889 [GRCh38] Chr2:211471613 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.1489A>T (p.Lys497Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001264192]	Chr2:210599501 [GRCh38] Chr2:211464225 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1790C>A (p.Ser597Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001264194]	Chr2:210602284 [GRCh38] Chr2:211467008 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2072T>A (p.Leu691Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001264196]	Chr2:210606821 [GRCh38] Chr2:211471545 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2152A>T (p.Arg718Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001264198]	Chr2:210606901 [GRCh38] Chr2:211471625 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2738C>A (p.Ser913Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001263628]	Chr2:210637752 [GRCh38] Chr2:211502476 [GRCh37] Chr2:2q34	likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	copy number gain	See cases [RCV001263052]	Chr2:178397959..243007457 [GRCh37] Chr2:2q31.2-37.3	pathogenic
NM_001875.5(CPS1):c.2236C>A (p.Pro746Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001279828]	Chr2:210608404 [GRCh38] Chr2:211473128 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.4028_4030del (p.His1343_Thr1344delinsPro)	deletion	Inborn genetic diseases [RCV001267426]	Chr2:210668211..210668213 [GRCh38] Chr2:211532935..211532937 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1141_1149del (p.Thr381_Gly383del)	deletion	Congenital hyperammonemia, type I [RCV001298254]	Chr2:210592933..210592941 [GRCh38] Chr2:211457657..211457665 [GRCh37] Chr2:2q34	pathogenic\|uncertain significance
NM_001875.5(CPS1):c.1456C>T (p.Pro486Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001313485]	Chr2:210599468 [GRCh38] Chr2:211464192 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3316T>C (p.Trp1106Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001309877]	Chr2:210648037 [GRCh38] Chr2:211512761 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.317C>T (p.Ala106Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001319014]	Chr2:210576426 [GRCh38] Chr2:211441150 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3662A>G (p.Glu1221Gly)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001334969]\|Inborn genetic diseases [RCV004978348]	Chr2:210656628 [GRCh38] Chr2:211521352 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1165-10T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001392501]	Chr2:210594498 [GRCh38] Chr2:211459222 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3219C>G (p.Val1073=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001391743]	Chr2:210647940 [GRCh38] Chr2:211512664 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2334T>G (p.Leu778=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001422236]	Chr2:210608502 [GRCh38] Chr2:211473226 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1893A>G (p.Glu631=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001392848]	Chr2:210605158 [GRCh38] Chr2:211469882 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3030G>A (p.Thr1010=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001394683]	Chr2:210642554 [GRCh38] Chr2:211507278 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1396A>G (p.Ile466Val)	single nucleotide variant	Inborn genetic diseases [RCV004611092]	Chr2:210599408 [GRCh38] Chr2:211464132 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2193-14T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV001391725]	Chr2:210608347 [GRCh38] Chr2:211473071 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1446C>G (p.Val482=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001391930]	Chr2:210599458 [GRCh38] Chr2:211464182 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3520C>A (p.Arg1174=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001396493]	Chr2:210654064 [GRCh38] Chr2:211518788 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2459T>C (p.Ile820Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001365610]	Chr2:210612184 [GRCh38] Chr2:211476908 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1139T>C (p.Val380Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001373321]	Chr2:210592931 [GRCh38] Chr2:211457655 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1371C>G (p.Val457=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001422170]	Chr2:210599383 [GRCh38] Chr2:211464107 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.529-7T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001396990]	Chr2:210582610 [GRCh38] Chr2:211447334 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2829+7G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV001397173]	Chr2:210637850 [GRCh38] Chr2:211502574 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1550-2A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001375867]	Chr2:210600553 [GRCh38] Chr2:211465277 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1299G>C (p.Leu433=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001279820]	Chr2:210595522 [GRCh38] Chr2:211460246 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1730C>T (p.Ala577Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001279824]	Chr2:210602224 [GRCh38] Chr2:211466948 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4074C>G (p.Pro1358=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001392012]	Chr2:210668257 [GRCh38] Chr2:211532981 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1347A>C (p.Val449=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001392421]	Chr2:210595570 [GRCh38] Chr2:211460294 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3045C>T (p.Cys1015=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001392766]	Chr2:210642569 [GRCh38] Chr2:211507293 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3368A>T (p.Asp1123Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001326379]	Chr2:210648504 [GRCh38] Chr2:211513228 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1707+3A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001279821]	Chr2:210600715 [GRCh38] Chr2:211465439 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1905A>T (p.Glu635Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001279826]	Chr2:210605170 [GRCh38] Chr2:211469894 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2568+10T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001279829]	Chr2:210612303 [GRCh38] Chr2:211477027 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1092T>G (p.Ile364Met)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001279819]	Chr2:210592884 [GRCh38] Chr2:211457608 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1031C>G (p.Thr344Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001324372]	Chr2:210591914 [GRCh38] Chr2:211456638 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2884T>C (p.Tyr962His)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001340283]	Chr2:210639204 [GRCh38] Chr2:211503928 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3759G>A (p.Val1253=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001421771]	Chr2:210660487 [GRCh38] Chr2:211525211 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.394C>T (p.Leu132=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001396410]	Chr2:210577433 [GRCh38] Chr2:211442157 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2358C>T (p.Ser786=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001394762]\|not provided [RCV003433131]	Chr2:210608526 [GRCh38] Chr2:211473250 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3736G>A (p.Val1246Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001309760]	Chr2:210658668 [GRCh38] Chr2:211523392 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.15G>C (p.Leu5Phe)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001279817]	Chr2:210556748 [GRCh38] Chr2:211421472 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1721T>G (p.Leu574Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001279822]	Chr2:210602215 [GRCh38] Chr2:211466939 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1776G>C (p.Leu592=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001279825]	Chr2:210602270 [GRCh38] Chr2:211466994 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.947+1G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV001375866]	Chr2:210590907 [GRCh38] Chr2:211455631 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3953T>A (p.Leu1318Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001293465]\|Congenital hyperammonemia, type I [RCV005029862]	Chr2:210663148 [GRCh38] Chr2:211527872 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.712-10T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001494640]	Chr2:210590096 [GRCh38] Chr2:211454820 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3399T>C (p.Val1133=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001506925]	Chr2:210648535 [GRCh38] Chr2:211513259 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1344T>C (p.Ala448=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001404376]	Chr2:210595567 [GRCh38] Chr2:211460291 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3408G>A (p.Gly1136=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001479202]	Chr2:210650366 [GRCh38] Chr2:211515090 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3753C>T (p.Val1251=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001464981]	Chr2:210658685 [GRCh38] Chr2:211523409 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4227A>C (p.Ala1409=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001490393]	Chr2:210675793 [GRCh38] Chr2:211540517 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3558+7G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001490416]	Chr2:210654109 [GRCh38] Chr2:211518833 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1071C>T (p.Asn357=)	single nucleotide variant	CPS1-related disorder [RCV003908684]\|Congenital hyperammonemia, type I [RCV001457867]	Chr2:210591954 [GRCh38] Chr2:211456678 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3114G>A (p.Glu1038=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001424920]	Chr2:210642638 [GRCh38] Chr2:211507362 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1332A>G (p.Ser444=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001490699]	Chr2:210595555 [GRCh38] Chr2:211460279 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2061T>C (p.Val687=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001495955]	Chr2:210606810 [GRCh38] Chr2:211471534 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1362A>G (p.Glu454=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001465417]	Chr2:210599374 [GRCh38] Chr2:211464098 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.765G>A (p.Glu255=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001435922]	Chr2:210590159 [GRCh38] Chr2:211454883 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4233G>A (p.Pro1411=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001425252]	Chr2:210675799 [GRCh38] Chr2:211540523 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4221A>T (p.Pro1407=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001482170]	Chr2:210675787 [GRCh38] Chr2:211540511 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2200T>C (p.Leu734=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001455323]	Chr2:210608368 [GRCh38] Chr2:211473092 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2192+10G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001455391]	Chr2:210606951 [GRCh38] Chr2:211471675 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3481-4A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001496352]	Chr2:210654021 [GRCh38] Chr2:211518745 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1401A>T (p.Ala467=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001405280]	Chr2:210599413 [GRCh38] Chr2:211464137 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3405-2A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001378378]	Chr2:210650361 [GRCh38] Chr2:211515085 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.552A>G (p.Glu184=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001482482]	Chr2:210582640 [GRCh38] Chr2:211447364 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3633C>T (p.Pro1211=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001425851]	Chr2:210656599 [GRCh38] Chr2:211521323 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1549+1G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001380979]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003469656]	Chr2:210599562 [GRCh38] Chr2:211464286 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.3720C>T (p.Phe1240=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001505512]	Chr2:210658652 [GRCh38] Chr2:211523376 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.816A>G (p.Glu272=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001492814]	Chr2:210590210 [GRCh38] Chr2:211454934 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.69G>A (p.Val23=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001475643]	Chr2:210556802 [GRCh38] Chr2:211421526 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2385A>G (p.Val795=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001480062]	Chr2:210608553 [GRCh38] Chr2:211473277 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3559-9T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001455663]	Chr2:210656516 [GRCh38] Chr2:211521240 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1662A>G (p.Leu554=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001482953]	Chr2:210600667 [GRCh38] Chr2:211465391 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2687+9G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001505673]	Chr2:210616550 [GRCh38] Chr2:211481274 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1112del (p.Phe371fs)	deletion	Congenital hyperammonemia, type I [RCV001390724]	Chr2:210592903 [GRCh38] Chr2:211457627 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.4074C>T (p.Pro1358=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001472112]	Chr2:210668257 [GRCh38] Chr2:211532981 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3609G>T (p.Ser1203=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001492989]	Chr2:210656575 [GRCh38] Chr2:211521299 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1981+10G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV001475809]	Chr2:210605256 [GRCh38] Chr2:211469980 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4317C>T (p.Pro1439=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001484351]	Chr2:210677049 [GRCh38] Chr2:211541773 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2106C>A (p.Ala702=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001453473]	Chr2:210606855 [GRCh38] Chr2:211471579 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.840+1G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001379633]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003469641]	Chr2:210590235 [GRCh38] Chr2:211454959 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4023T>C (p.Gly1341=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001506275]	Chr2:210668206 [GRCh38] Chr2:211532930 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.831T>C (p.Asn277=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001437858]	Chr2:210590225 [GRCh38] Chr2:211454949 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3772T>C (p.Leu1258=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001456425]	Chr2:210660500 [GRCh38] Chr2:211525224 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4200C>T (p.Ala1400=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001486254]	Chr2:210675766 [GRCh38] Chr2:211540490 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2403T>C (p.Ile801=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001472641]	Chr2:210612128 [GRCh38] Chr2:211476852 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2934G>T (p.Val978=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001478443]	Chr2:210640034 [GRCh38] Chr2:211504758 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4374T>C (p.Asp1458=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001401595]	Chr2:210677106 [GRCh38] Chr2:211541830 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1875A>C (p.Ser625=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001398621]	Chr2:210605140 [GRCh38] Chr2:211469864 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.840+10A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001501451]	Chr2:210590244 [GRCh38] Chr2:211454968 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.841-8del	deletion	Congenital hyperammonemia, type I [RCV001471592]	Chr2:210590792 [GRCh38] Chr2:211455516 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3404+10T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001401667]	Chr2:210648550 [GRCh38] Chr2:211513274 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3414T>G (p.Ala1138=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001445928]	Chr2:210650372 [GRCh38] Chr2:211515096 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4101+8G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV001424777]	Chr2:210668292 [GRCh38] Chr2:211533016 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3628C>T (p.Leu1210=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001412021]	Chr2:210656594 [GRCh38] Chr2:211521318 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3126C>T (p.Asp1042=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001400756]	Chr2:210642650 [GRCh38] Chr2:211507374 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1854C>T (p.Asn618=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001443426]	Chr2:210605119 [GRCh38] Chr2:211469843 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2051C>G (p.Ser684Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001380479]	Chr2:210606800 [GRCh38] Chr2:211471524 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.738C>T (p.Pro246=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001430372]	Chr2:210590132 [GRCh38] Chr2:211454856 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3249C>T (p.Ile1083=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001443575]	Chr2:210647970 [GRCh38] Chr2:211512694 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2470_2482del (p.Thr824fs)	deletion	Congenital hyperammonemia, type I [RCV001385247]	Chr2:210612194..210612206 [GRCh38] Chr2:211476918..211476930 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.474T>C (p.Val158=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001441246]	Chr2:210579716 [GRCh38] Chr2:211444440 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2391+1G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001377851]	Chr2:210608560 [GRCh38] Chr2:211473284 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3375C>T (p.Pro1125=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001409727]	Chr2:210648511 [GRCh38] Chr2:211513235 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.382-10G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV001448929]	Chr2:210577411 [GRCh38] Chr2:211442135 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1242A>C (p.Ala414=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001428121]	Chr2:210594585 [GRCh38] Chr2:211459309 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2502A>G (p.Pro834=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001405091]	Chr2:210612227 [GRCh38] Chr2:211476951 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.708A>C (p.Val236=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001434410]	Chr2:210588144 [GRCh38] Chr2:211452868 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.66T>C (p.Asn22=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001400925]	Chr2:210556799 [GRCh38] Chr2:211421523 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.594G>A (p.Gln198=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001441206]	Chr2:210582682 [GRCh38] Chr2:211447406 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.642A>G (p.Lys214=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001449074]	Chr2:210588078 [GRCh38] Chr2:211452802 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2589C>G (p.Ser863=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001444223]	Chr2:210616443 [GRCh38] Chr2:211481167 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3795C>T (p.Pro1265=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001417211]	Chr2:210660523 [GRCh38] Chr2:211525247 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1488C>T (p.Ile496=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001428985]	Chr2:210599500 [GRCh38] Chr2:211464224 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2709C>A (p.Thr903=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001400291]	Chr2:210637723 [GRCh38] Chr2:211502447 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2100G>A (p.Gln700=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001405349]	Chr2:210606849 [GRCh38] Chr2:211471573 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3210G>A (p.Lys1070=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001444287]	Chr2:210647931 [GRCh38] Chr2:211512655 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.543G>A (p.Gly181=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001423613]	Chr2:210582631 [GRCh38] Chr2:211447355 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.690T>C (p.Asn230=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001405057]	Chr2:210588126 [GRCh38] Chr2:211452850 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.378C>T (p.Ile126=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001393291]	Chr2:210576487 [GRCh38] Chr2:211441211 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1815T>A (p.Thr605=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001447179]	Chr2:210602309 [GRCh38] Chr2:211467033 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.717A>G (p.Gly239=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001437387]	Chr2:210590111 [GRCh38] Chr2:211454835 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3520C>T (p.Arg1174Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001390612]\|Pulmonary hypertension, neonatal, susceptibility to [RCV004570974]	Chr2:210654064 [GRCh38] Chr2:211518788 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3954G>A (p.Leu1318=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001444986]	Chr2:210663149 [GRCh38] Chr2:211527873 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4389C>A (p.Leu1463=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001445023]	Chr2:210677121 [GRCh38] Chr2:211541845 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.147C>G (p.Val49=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001445093]	Chr2:210573318 [GRCh38] Chr2:211438042 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.726G>A (p.Val242=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001410966]\|not provided [RCV003438775]	Chr2:210590120 [GRCh38] Chr2:211454844 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1446C>T (p.Val482=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001423971]	Chr2:210599458 [GRCh38] Chr2:211464182 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1426T>C (p.Leu476=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001417702]	Chr2:210599438 [GRCh38] Chr2:211464162 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1707+16T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001401459]	Chr2:210600728 [GRCh38] Chr2:211465452 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4197C>T (p.Asn1399=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001419317]	Chr2:210675763 [GRCh38] Chr2:211540487 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.6G>A (p.Thr2=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001408616]	Chr2:210556739 [GRCh38] Chr2:211421463 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3952T>C (p.Leu1318=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001398604]	Chr2:210663147 [GRCh38] Chr2:211527871 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3204A>G (p.Leu1068=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001435127]\|not provided [RCV003433166]	Chr2:210647925 [GRCh38] Chr2:211512649 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.753C>T (p.Phe251=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001393870]	Chr2:210590147 [GRCh38] Chr2:211454871 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3622C>T (p.Leu1208=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001393848]	Chr2:210656588 [GRCh38] Chr2:211521312 [GRCh37] Chr2:2q34	likely benign
NC_000002.11:g.(?_211421433)_(211421593_?)del	deletion	Congenital hyperammonemia, type I [RCV001382018]	Chr2:211421433..211421593 [GRCh37] Chr2:2q34	pathogenic
NC_000002.11:g.(?_211441050)_(211542729_?)del	deletion	Congenital hyperammonemia, type I [RCV001382019]	Chr2:211441050..211542729 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2193-10C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV001432335]	Chr2:210608351 [GRCh38] Chr2:211473075 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3096T>C (p.Phe1032=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001428529]	Chr2:210642620 [GRCh38] Chr2:211507344 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1432C>T (p.Gln478Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001380978]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003469655]	Chr2:210599444 [GRCh38] Chr2:211464168 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2994T>G (p.Ser998=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001406756]	Chr2:210642518 [GRCh38] Chr2:211507242 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.771T>C (p.Asp257=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001432477]	Chr2:210590165 [GRCh38] Chr2:211454889 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.675T>C (p.Cys225=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001432498]	Chr2:210588111 [GRCh38] Chr2:211452835 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2199A>G (p.Pro733=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001409303]	Chr2:210608367 [GRCh38] Chr2:211473091 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.730T>C (p.Leu244=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001446039]	Chr2:210590124 [GRCh38] Chr2:211454848 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.819A>G (p.Pro273=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001498972]	Chr2:210590213 [GRCh38] Chr2:211454937 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1764C>T (p.Ser588=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001468523]	Chr2:210602258 [GRCh38] Chr2:211466982 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.622-182_622-181del	deletion	not provided [RCV001694687]	Chr2:210587875..210587876 [GRCh38] Chr2:211452599..211452600 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.141C>T (p.His47=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001494626]	Chr2:210573312 [GRCh38] Chr2:211438036 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2829+19T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001461349]	Chr2:210637862 [GRCh38] Chr2:211502586 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1773A>C (p.Ala591=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001481680]	Chr2:210602267 [GRCh38] Chr2:211466991 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1902T>C (p.Tyr634=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001502540]	Chr2:210605167 [GRCh38] Chr2:211469891 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1815T>G (p.Thr605=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001473101]	Chr2:210602309 [GRCh38] Chr2:211467033 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3666+322G>C	single nucleotide variant	not provided [RCV001614561]	Chr2:210656954 [GRCh38] Chr2:211521678 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2839C>T (p.Leu947=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001478845]	Chr2:210639159 [GRCh38] Chr2:211503883 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1278T>C (p.Leu426=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001502052]	Chr2:210595501 [GRCh38] Chr2:211460225 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.837A>G (p.Arg279=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001450786]	Chr2:210590231 [GRCh38] Chr2:211454955 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3404+8T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV001490676]	Chr2:210648548 [GRCh38] Chr2:211513272 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1347A>G (p.Val449=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001468993]	Chr2:210595570 [GRCh38] Chr2:211460294 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3552T>C (p.Asp1184=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001506497]	Chr2:210654096 [GRCh38] Chr2:211518820 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3498G>A (p.Leu1166=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001502584]	Chr2:210654042 [GRCh38] Chr2:211518766 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4003-109TG[17]	microsatellite	not provided [RCV001713287]	Chr2:210668076..210668077 [GRCh38] Chr2:211532800..211532801 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.4164G>A (p.Leu1388=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001482847]	Chr2:210675730 [GRCh38] Chr2:211540454 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2019C>T (p.Ser673=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001455191]	Chr2:210606768 [GRCh38] Chr2:211471492 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.795G>A (p.Pro265=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001476078]	Chr2:210590189 [GRCh38] Chr2:211454913 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2481C>T (p.Leu827=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001499844]	Chr2:210612206 [GRCh38] Chr2:211476930 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1665T>C (p.Asn555=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001465933]	Chr2:210600670 [GRCh38] Chr2:211465394 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.951G>A (p.Gly317=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001455230]	Chr2:210591834 [GRCh38] Chr2:211456558 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2688-295G>A	single nucleotide variant	not provided [RCV001695781]	Chr2:210637407 [GRCh38] Chr2:211502131 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3909T>G (p.Ala1303=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001459253]	Chr2:210660637 [GRCh38] Chr2:211525361 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3559-7del	deletion	not provided [RCV001619932]\|not specified [RCV001528335]	Chr2:210656504 [GRCh38] Chr2:211521228 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1404A>C (p.Ser468=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001497255]	Chr2:210599416 [GRCh38] Chr2:211464140 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3555A>C (p.Gly1185=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001497263]	Chr2:210654099 [GRCh38] Chr2:211518823 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1087-9T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001459815]	Chr2:210592870 [GRCh38] Chr2:211457594 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2256C>T (p.Asn752=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001452181]	Chr2:210608424 [GRCh38] Chr2:211473148 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3630G>A (p.Leu1210=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001452583]	Chr2:210656596 [GRCh38] Chr2:211521320 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4102-419_4102-415del	deletion	not provided [RCV001696365]	Chr2:210674480..210674484 [GRCh38] Chr2:211539204..211539208 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1981+9A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001480797]	Chr2:210605255 [GRCh38] Chr2:211469979 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3513A>G (p.Glu1171=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001460112]	Chr2:210654057 [GRCh38] Chr2:211518781 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1981+207G>A	single nucleotide variant	not provided [RCV001670684]	Chr2:210605453 [GRCh38] Chr2:211470177 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1146G>A (p.Pro382=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001460444]	Chr2:210592938 [GRCh38] Chr2:211457662 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.330T>G (p.Thr110=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001463760]	Chr2:210576439 [GRCh38] Chr2:211441163 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3928-125dup	duplication	not provided [RCV001618915]	Chr2:210662992..210662993 [GRCh38] Chr2:211527716..211527717 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3142-150G>A	single nucleotide variant	not provided [RCV001716090]	Chr2:210647713 [GRCh38] Chr2:211512437 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.4416T>G (p.Leu1472=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001504727]	Chr2:210677898 [GRCh38] Chr2:211542622 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3057T>A (p.Thr1019=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001453560]	Chr2:210642581 [GRCh38] Chr2:211507305 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4194C>T (p.Leu1398=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001498289]	Chr2:210675760 [GRCh38] Chr2:211540484 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3576C>T (p.Ile1192=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001477816]	Chr2:210656542 [GRCh38] Chr2:211521266 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1929T>C (p.Asn643=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001460481]	Chr2:210605194 [GRCh38] Chr2:211469918 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4102-263A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001832865]\|not provided [RCV001716201]	Chr2:210674639 [GRCh38] Chr2:211539363 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2559C>G (p.Ala853=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001460728]	Chr2:210612284 [GRCh38] Chr2:211477008 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1284A>C (p.Leu428=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001453626]	Chr2:210595507 [GRCh38] Chr2:211460231 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.841-7G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV001484893]	Chr2:210590793 [GRCh38] Chr2:211455517 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1981+226T>C	single nucleotide variant	not provided [RCV001540914]	Chr2:210605472 [GRCh38] Chr2:211470196 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1816T>C (p.Leu606=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001425306]	Chr2:210602310 [GRCh38] Chr2:211467034 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2577T>C (p.Asp859=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001416884]	Chr2:210616431 [GRCh38] Chr2:211481155 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2687+9G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001467004]	Chr2:210616550 [GRCh38] Chr2:211481274 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1395C>T (p.Asn465=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001469590]	Chr2:210599407 [GRCh38] Chr2:211464131 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4191G>A (p.Trp1397Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001381094]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003469658]	Chr2:210675757 [GRCh38] Chr2:211540481 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.3960T>C (p.Asp1320=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001431240]	Chr2:210663155 [GRCh38] Chr2:211527879 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3993C>T (p.Ser1331=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001462497]	Chr2:210663188 [GRCh38] Chr2:211527912 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4101+10T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001502938]	Chr2:210668294 [GRCh38] Chr2:211533018 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4125T>C (p.Leu1375=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001468511]	Chr2:210674925 [GRCh38] Chr2:211539649 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2997T>C (p.Ser999=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001470200]	Chr2:210642521 [GRCh38] Chr2:211507245 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2187C>T (p.Ala729=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001439595]	Chr2:210606936 [GRCh38] Chr2:211471660 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.381+9A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001455386]	Chr2:210576499 [GRCh38] Chr2:211441223 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.472-5T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001428909]	Chr2:210579709 [GRCh38] Chr2:211444433 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2155C>T (p.Leu719=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001440038]	Chr2:210606904 [GRCh38] Chr2:211471628 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3763G>T (p.Glu1255Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001390872]	Chr2:210660491 [GRCh38] Chr2:211525215 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.4047A>G (p.Ala1349=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001455626]	Chr2:210668230 [GRCh38] Chr2:211532954 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1065T>C (p.Asn355=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001484688]	Chr2:210591948 [GRCh38] Chr2:211456672 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2205A>G (p.Ala735=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001465037]\|not provided [RCV003438814]	Chr2:210608373 [GRCh38] Chr2:211473097 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1995T>C (p.Val665=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001465879]	Chr2:210606744 [GRCh38] Chr2:211471468 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.876A>T (p.Gly292=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001471356]	Chr2:210590835 [GRCh38] Chr2:211455559 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3334T>C (p.Leu1112=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001458878]	Chr2:210648055 [GRCh38] Chr2:211512779 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3234A>G (p.Thr1078=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001482384]	Chr2:210647955 [GRCh38] Chr2:211512679 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3471A>G (p.Arg1157=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001498657]	Chr2:210650429 [GRCh38] Chr2:211515153 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4383C>T (p.Ile1461=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001466042]	Chr2:210677115 [GRCh38] Chr2:211541839 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1650T>C (p.Phe550=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001415819]	Chr2:210600655 [GRCh38] Chr2:211465379 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4155T>C (p.Gly1385=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001438330]	Chr2:210674955 [GRCh38] Chr2:211539679 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1578C>T (p.Leu526=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001453506]	Chr2:210600583 [GRCh38] Chr2:211465307 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2688-12A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001517455]\|not provided [RCV004709055]	Chr2:210637690 [GRCh38] Chr2:211502414 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3396T>C (p.Tyr1132=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001398123]	Chr2:210648532 [GRCh38] Chr2:211513256 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4410C>T (p.Thr1470=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001443594]	Chr2:210677892 [GRCh38] Chr2:211542616 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3282T>C (p.Ala1094=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001463299]	Chr2:210648003 [GRCh38] Chr2:211512727 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2569-6T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001467845]	Chr2:210616417 [GRCh38] Chr2:211481141 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1424del (p.Gly475fs)	deletion	CPS1-related disorder [RCV004731144]\|Congenital hyperammonemia, type I [RCV001382268]\|Congenital hyperammonemia, type I [RCV005023137]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003469674]	Chr2:210599434 [GRCh38] Chr2:211464158 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.1860T>C (p.Ile620=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001476726]	Chr2:210605125 [GRCh38] Chr2:211469849 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4003-6A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001480706]	Chr2:210668180 [GRCh38] Chr2:211532904 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3666+8T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001441094]	Chr2:210656640 [GRCh38] Chr2:211521364 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1086+9T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001404738]	Chr2:210591978 [GRCh38] Chr2:211456702 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3405-10C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001407186]	Chr2:210650353 [GRCh38] Chr2:211515077 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3558+11dup	duplication	Congenital hyperammonemia, type I [RCV001432925]	Chr2:210654110..210654111 [GRCh38] Chr2:211518834..211518835 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1707+15dup	duplication	Congenital hyperammonemia, type I [RCV001483745]	Chr2:210600726..210600727 [GRCh38] Chr2:211465450..211465451 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1550-5T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001459601]	Chr2:210600550 [GRCh38] Chr2:211465274 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3576C>A (p.Ile1192=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001499503]	Chr2:210656542 [GRCh38] Chr2:211521266 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2171_2175del (p.Ala724fs)	microsatellite	Congenital hyperammonemia, type I [RCV001384350]	Chr2:210606914..210606918 [GRCh38] Chr2:211471638..211471642 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.1830C>T (p.Ser610=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001441503]	Chr2:210602324 [GRCh38] Chr2:211467048 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.732A>G (p.Leu244=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001512176]	Chr2:210590126 [GRCh38] Chr2:211454850 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.471+9T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001501250]	Chr2:210577519 [GRCh38] Chr2:211442243 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3757-1G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV001379407]	Chr2:210660484 [GRCh38] Chr2:211525208 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3607T>C (p.Ser1203Pro)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001378075]\|Pulmonary hypertension, neonatal, susceptibility to [RCV004570926]	Chr2:210656573 [GRCh38] Chr2:211521297 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.1592T>A (p.Val531Glu)	single nucleotide variant	not provided [RCV001756573]	Chr2:210600597 [GRCh38] Chr2:211465321 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4275-2A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002249836]	Chr2:210677005 [GRCh38] Chr2:211541729 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.382-6T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003108494]	Chr2:210577415 [GRCh38] Chr2:211442139 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.3952T>A (p.Leu1318Met)	single nucleotide variant	not provided [RCV001755126]	Chr2:210663147 [GRCh38] Chr2:211527871 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3325G>A (p.Val1109Ile)	single nucleotide variant	not provided [RCV001755127]	Chr2:210648046 [GRCh38] Chr2:211512770 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3412G>C (p.Ala1138Pro)	single nucleotide variant	Inborn genetic diseases [RCV002901053]	Chr2:210650370 [GRCh38] Chr2:211515094 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3176A>G (p.Gln1059Arg)	single nucleotide variant	not specified [RCV005236969]	Chr2:210647897 [GRCh38] Chr2:211512621 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.420C>T (p.Tyr140=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003104833]	Chr2:210577459 [GRCh38] Chr2:211442183 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1770T>G (p.Tyr590Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001779494]	Chr2:210602264 [GRCh38] Chr2:211466988 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.4003-109TG[18]	microsatellite	not provided [RCV001786146]	Chr2:210668076..210668077 [GRCh38] Chr2:211532800..211532801 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2392-135_2392-133dup	duplication	not provided [RCV001779822]	Chr2:210611971..210611972 [GRCh38] Chr2:211476695..211476696 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.382-10_382-7del	microsatellite	Congenital hyperammonemia, type I [RCV002540290]\|not provided [RCV001770898]	Chr2:210577405..210577408 [GRCh38] Chr2:211442129..211442132 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.1315G>A (p.Gly439Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001808268]	Chr2:210595538 [GRCh38] Chr2:211460262 [GRCh37] Chr2:2q34	uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	copy number gain	not specified [RCV002053265]	Chr2:169829974..215521436 [GRCh37] Chr2:2q31.1-35	pathogenic
NM_001875.5(CPS1):c.3250G>A (p.Asp1084Asn)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001928197]\|Congenital hyperammonemia, type I [RCV002484484]	Chr2:210647971 [GRCh38] Chr2:211512695 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4003-3C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV001895938]	Chr2:210668183 [GRCh38] Chr2:211532907 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2771C>T (p.Thr924Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001837207]	Chr2:210637785 [GRCh38] Chr2:211502509 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.504G>T (p.Met168Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001893672]	Chr2:210579746 [GRCh38] Chr2:211444470 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1070A>G (p.Asn357Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001895054]	Chr2:210591953 [GRCh38] Chr2:211456677 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3950G>A (p.Arg1317Gln)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001987942]\|Inborn genetic diseases [RCV004043791]	Chr2:210663145 [GRCh38] Chr2:211527869 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.2184A>G (p.Lys728=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001970683]	Chr2:210606933 [GRCh38] Chr2:211471657 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.3336G>A (p.Leu1112=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001896488]	Chr2:210648057 [GRCh38] Chr2:211512781 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2860G>T (p.Val954Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001988579]	Chr2:210639180 [GRCh38] Chr2:211503904 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1468C>T (p.Gln490Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001946627]	Chr2:210599480 [GRCh38] Chr2:211464204 [GRCh37] Chr2:2q34	pathogenic
NC_000002.11:g.(?_211512577)_(211513274_?)del	deletion	Congenital hyperammonemia, type I [RCV001946637]	Chr2:211512577..211513274 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.1165-2A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001984316]	Chr2:210594506 [GRCh38] Chr2:211459230 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1582G>C (p.Glu528Gln)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001911386]	Chr2:210600587 [GRCh38] Chr2:211465311 [GRCh37] Chr2:2q34	uncertain significance
NC_000002.11:g.(?_211454820)_(211455640_?)dup	duplication	Congenital hyperammonemia, type I [RCV002006696]	Chr2:211454820..211455640 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4198G>A (p.Ala1400Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002006796]	Chr2:210675764 [GRCh38] Chr2:211540488 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4159A>T (p.Lys1387Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002002355]	Chr2:210674959 [GRCh38] Chr2:211539683 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.677G>T (p.Gly226Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002042206]	Chr2:210588113 [GRCh38] Chr2:211452837 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4046C>G (p.Ala1349Gly)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001894509]	Chr2:210668229 [GRCh38] Chr2:211532953 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3266G>T (p.Arg1089Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002003812]	Chr2:210647987 [GRCh38] Chr2:211512711 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.1562T>G (p.Phe521Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001926512]	Chr2:210600567 [GRCh38] Chr2:211465291 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.622-2A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002021997]\|Congenital hyperammonemia, type I [RCV005025573]	Chr2:210588056 [GRCh38] Chr2:211452780 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4018G>A (p.Glu1340Lys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001892474]	Chr2:210668201 [GRCh38] Chr2:211532925 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3141+2T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV001968968]\|Congenital hyperammonemia, type I [RCV005025549]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003471213]	Chr2:210642667 [GRCh38] Chr2:211507391 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3336+4A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001914012]	Chr2:210648061 [GRCh38] Chr2:211512785 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2446del (p.Cys816fs)	deletion	Congenital hyperammonemia, type I [RCV001949466]	Chr2:210612171 [GRCh38] Chr2:211476895 [GRCh37] Chr2:2q34	pathogenic
GRCh37/hg19 2q34(chr2:211445066-211674837)	copy number gain	not specified [RCV002053278]	Chr2:211445066..211674837 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4088_4099del (p.Leu1363_Ile1366del)	deletion	Congenital hyperammonemia, type I [RCV002020754]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003471268]	Chr2:210668263..210668274 [GRCh38] Chr2:211532987..211532998 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1982G>A (p.Gly661Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001928085]	Chr2:210606731 [GRCh38] Chr2:211471455 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2876_2877del (p.Tyr959fs)	deletion	Congenital hyperammonemia, type I [RCV001946749]	Chr2:210639195..210639196 [GRCh38] Chr2:211503919..211503920 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2476C>T (p.Arg826Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001913255]\|Inborn genetic diseases [RCV004042528]	Chr2:210612201 [GRCh38] Chr2:211476925 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.1862T>C (p.Leu621Pro)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002043183]	Chr2:210605127 [GRCh38] Chr2:211469851 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3337-1G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001844568]\|Congenital hyperammonemia, type I [RCV005023274]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003470940]	Chr2:210648472 [GRCh38] Chr2:211513196 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.4303G>A (p.Val1435Met)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002002049]	Chr2:210677035 [GRCh38] Chr2:211541759 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2131T>C (p.Cys711Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001893957]	Chr2:210606880 [GRCh38] Chr2:211471604 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3666+6_3666+8del	microsatellite	Congenital hyperammonemia, type I [RCV001908831]	Chr2:210656634..210656636 [GRCh38] Chr2:211521358..211521360 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.793C>A (p.Pro265Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002039607]	Chr2:210590187 [GRCh38] Chr2:211454911 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.281T>G (p.Leu94Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001907351]\|not provided [RCV004762204]	Chr2:210576390 [GRCh38] Chr2:211441114 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1561T>C (p.Phe521Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001926127]	Chr2:210600566 [GRCh38] Chr2:211465290 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3307C>T (p.Gln1103Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001999712]	Chr2:210648028 [GRCh38] Chr2:211512752 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.410G>T (p.Ser137Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001887537]	Chr2:210577449 [GRCh38] Chr2:211442173 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3682del (p.Arg1228fs)	deletion	Congenital hyperammonemia, type I [RCV001972722]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003471187]	Chr2:210658612 [GRCh38] Chr2:211523336 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.3292G>A (p.Glu1098Lys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001886707]	Chr2:210648013 [GRCh38] Chr2:211512737 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4002G>A (p.Glu1334=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001943237]\|Congenital hyperammonemia, type I [RCV002490272]	Chr2:210663197 [GRCh38] Chr2:211527921 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4478A>C (p.Gln1493Pro)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001991261]	Chr2:210677960 [GRCh38] Chr2:211542684 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3623T>A (p.Leu1208Gln)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001941369]	Chr2:210656589 [GRCh38] Chr2:211521313 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3756+3A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001944125]	Chr2:210658691 [GRCh38] Chr2:211523415 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.155A>G (p.Asp52Gly)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001919560]	Chr2:210573326 [GRCh38] Chr2:211438050 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3151G>A (p.Gly1051Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001886946]	Chr2:210647872 [GRCh38] Chr2:211512596 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2830-1G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002026249]	Chr2:210639149 [GRCh38] Chr2:211503873 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4194_4206del (p.Asn1399fs)	deletion	Congenital hyperammonemia, type I [RCV001879560]	Chr2:210675759..210675771 [GRCh38] Chr2:211540483..211540495 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.737C>T (p.Pro246Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002050394]	Chr2:210590131 [GRCh38] Chr2:211454855 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3935dup (p.Met1312fs)	duplication	Congenital hyperammonemia, type I [RCV001941686]	Chr2:210663129..210663130 [GRCh38] Chr2:211527853..211527854 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.1638C>A (p.Asp546Glu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001924166]	Chr2:210600643 [GRCh38] Chr2:211465367 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1370T>G (p.Val457Gly)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001956334]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003471189]	Chr2:210599382 [GRCh38] Chr2:211464106 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.286A>G (p.Met96Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001953036]	Chr2:210576395 [GRCh38] Chr2:211441119 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.895A>G (p.Ile299Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001921750]	Chr2:210590854 [GRCh38] Chr2:211455578 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4034C>G (p.Ala1345Gly)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001936369]	Chr2:210668217 [GRCh38] Chr2:211532941 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3439G>A (p.Glu1147Lys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001976619]	Chr2:210650397 [GRCh38] Chr2:211515121 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2408dup (p.Thr804fs)	duplication	Congenital hyperammonemia, type I [RCV001974483]	Chr2:210612132..210612133 [GRCh38] Chr2:211476856..211476857 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2381G>T (p.Ser794Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002015192]	Chr2:210608549 [GRCh38] Chr2:211473273 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3666+1G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001897177]	Chr2:210656633 [GRCh38] Chr2:211521357 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3688A>G (p.Ile1230Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001934556]	Chr2:210658620 [GRCh38] Chr2:211523344 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.349C>T (p.Leu117Phe)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001880825]	Chr2:210576458 [GRCh38] Chr2:211441182 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4469A>G (p.His1490Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001902836]	Chr2:210677951 [GRCh38] Chr2:211542675 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2659A>T (p.Met887Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002050165]	Chr2:210616513 [GRCh38] Chr2:211481237 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2044C>T (p.Arg682Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001973646]	Chr2:210606793 [GRCh38] Chr2:211471517 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3216del (p.Val1073fs)	deletion	Congenital hyperammonemia, type I [RCV001972585]	Chr2:210647937 [GRCh38] Chr2:211512661 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2959+9A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001924535]	Chr2:210640068 [GRCh38] Chr2:211504792 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NC_000002.12:g.210577425_210577431del	deletion	Congenital hyperammonemia, type I [RCV001981780]	Chr2:210577419..210577425 [GRCh38] Chr2:211442143..211442149 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2819G>A (p.Trp940Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001990006]\|Congenital hyperammonemia, type I [RCV005025504]	Chr2:210637833 [GRCh38] Chr2:211502557 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001918009]\|Congenital hyperammonemia, type I [RCV002478306]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003471019]	Chr2:210648516 [GRCh38] Chr2:211513240 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.3062G>A (p.Ser1021Asn)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002017206]	Chr2:210642586 [GRCh38] Chr2:211507310 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1000G>A (p.Ala334Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001905298]	Chr2:210591883 [GRCh38] Chr2:211456607 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1509del (p.Gly503_Leu504insTer)	deletion	Congenital hyperammonemia, type I [RCV001938120]	Chr2:210599519 [GRCh38] Chr2:211464243 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.8G>T (p.Arg3Met)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002019673]	Chr2:210556741 [GRCh38] Chr2:211421465 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3237C>G (p.Ser1079Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001916029]	Chr2:210647958 [GRCh38] Chr2:211512682 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2257G>A (p.Val753Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001973652]\|Inborn genetic diseases [RCV002573417]	Chr2:210608425 [GRCh38] Chr2:211473149 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3740A>C (p.Lys1247Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001952800]\|Congenital hyperammonemia, type I [RCV002484656]\|Inborn genetic diseases [RCV004042121]	Chr2:210658672 [GRCh38] Chr2:211523396 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.1165-4C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV001975092]	Chr2:210594504 [GRCh38] Chr2:211459228 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1150C>A (p.Pro384Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001989841]	Chr2:210592942 [GRCh38] Chr2:211457666 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.840+6A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001899717]	Chr2:210590240 [GRCh38] Chr2:211454964 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2308G>A (p.Val770Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001958469]\|Inborn genetic diseases [RCV002563458]	Chr2:210608476 [GRCh38] Chr2:211473200 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.49G>A (p.Gly17Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002050403]	Chr2:210556782 [GRCh38] Chr2:211421506 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.2959+5A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001979699]	Chr2:210640064 [GRCh38] Chr2:211504788 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1359+4A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV001961088]	Chr2:210595586 [GRCh38] Chr2:211460310 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2786G>A (p.Arg929Lys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001960357]	Chr2:210637800 [GRCh38] Chr2:211502524 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.764A>C (p.Glu255Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001906101]	Chr2:210590158 [GRCh38] Chr2:211454882 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.1226T>C (p.Val409Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001939007]	Chr2:210594569 [GRCh38] Chr2:211459293 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.2403dup (p.Gly802fs)	duplication	Congenital hyperammonemia, type I [RCV001907227]	Chr2:210612126..210612127 [GRCh38] Chr2:211476850..211476851 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.4401T>G (p.Phe1467Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001978579]	Chr2:210677133 [GRCh38] Chr2:211541857 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2611A>T (p.Thr871Ser)	single nucleotide variant	CPS1-related disorder [RCV003395326]\|Congenital hyperammonemia, type I [RCV001975573]	Chr2:210616465 [GRCh38] Chr2:211481189 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.2324G>A (p.Arg775His)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002028101]	Chr2:210608492 [GRCh38] Chr2:211473216 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4358G>A (p.Arg1453Gln)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002031711]\|Congenital hyperammonemia, type I [RCV005025681]	Chr2:210677090 [GRCh38] Chr2:211541814 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.420C>A (p.Tyr140Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV001865140]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003470966]	Chr2:210577459 [GRCh38] Chr2:211442183 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NC_000002.11:g.(?_203420070)_(211811277_?)del	deletion	Primary pulmonary hypertension [RCV002016799]	Chr2:203420070..211811277 [GRCh37] Chr2:2q33.2-34	uncertain significance
NC_000002.11:g.(?_210636797)_(211542709_?)dup	duplication	not provided [RCV004583853]	Chr2:210636797..211542709 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.462G>A (p.Gln154=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002087265]	Chr2:210577501 [GRCh38] Chr2:211442225 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2064T>C (p.Val688=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002130135]	Chr2:210606813 [GRCh38] Chr2:211471537 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.660G>T (p.Val220=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002185832]	Chr2:210588096 [GRCh38] Chr2:211452820 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.237G>A (p.Gly79=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002110210]	Chr2:210576346 [GRCh38] Chr2:211441070 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1425C>T (p.Gly475=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002085744]	Chr2:210599437 [GRCh38] Chr2:211464161 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2569-4G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002073907]	Chr2:210616419 [GRCh38] Chr2:211481143 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3483G>A (p.Glu1161=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002075828]	Chr2:210654027 [GRCh38] Chr2:211518751 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3204A>C (p.Leu1068=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002166576]	Chr2:210647925 [GRCh38] Chr2:211512649 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1982-9G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002186771]	Chr2:210606722 [GRCh38] Chr2:211471446 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.531T>A (p.Gly177=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002187937]	Chr2:210582619 [GRCh38] Chr2:211447343 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4003-15T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002207933]	Chr2:210668171 [GRCh38] Chr2:211532895 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.975C>T (p.Ile325=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002145613]	Chr2:210591858 [GRCh38] Chr2:211456582 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2217A>G (p.Ala739=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002191038]	Chr2:210608385 [GRCh38] Chr2:211473109 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.243A>G (p.Pro81=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002130594]	Chr2:210576352 [GRCh38] Chr2:211441076 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.947+19T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002076154]	Chr2:210590925 [GRCh38] Chr2:211455649 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.618C>A (p.Thr206=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002144745]	Chr2:210582706 [GRCh38] Chr2:211447430 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3966C>T (p.Asp1322=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002205487]	Chr2:210663161 [GRCh38] Chr2:211527885 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2412C>T (p.Thr804=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002146184]	Chr2:210612137 [GRCh38] Chr2:211476861 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4266C>T (p.Ser1422=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002089728]	Chr2:210675832 [GRCh38] Chr2:211540556 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1836+13G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002130753]	Chr2:210602343 [GRCh38] Chr2:211467067 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3489A>G (p.Pro1163=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002085838]	Chr2:210654033 [GRCh38] Chr2:211518757 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1020C>T (p.Ala340=)	single nucleotide variant	CPS1-related disorder [RCV003958784]\|Congenital hyperammonemia, type I [RCV002147207]	Chr2:210591903 [GRCh38] Chr2:211456627 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1689A>T (p.Pro563=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002112233]	Chr2:210600694 [GRCh38] Chr2:211465418 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1803C>G (p.Pro601=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002185762]	Chr2:210602297 [GRCh38] Chr2:211467021 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1170G>C (p.Leu390=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002073950]	Chr2:210594513 [GRCh38] Chr2:211459237 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1407C>G (p.Val469=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002112397]	Chr2:210599419 [GRCh38] Chr2:211464143 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.345_351del (p.Gly116fs)	deletion	Congenital hyperammonemia, type I [RCV002249835]	Chr2:210576453..210576459 [GRCh38] Chr2:211441177..211441183 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3955A>C (p.Arg1319=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002106673]	Chr2:210663150 [GRCh38] Chr2:211527874 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1098T>C (p.His366=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002084834]	Chr2:210592890 [GRCh38] Chr2:211457614 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3756+9T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002089361]	Chr2:210658697 [GRCh38] Chr2:211523421 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1101G>A (p.Glu367=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002072413]	Chr2:210592893 [GRCh38] Chr2:211457617 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2688-5C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002145720]	Chr2:210637697 [GRCh38] Chr2:211502421 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.960G>A (p.Gln320=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002089449]	Chr2:210591843 [GRCh38] Chr2:211456567 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2259C>T (p.Val753=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002129554]	Chr2:210608427 [GRCh38] Chr2:211473151 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3426A>G (p.Val1142=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002127534]	Chr2:210650384 [GRCh38] Chr2:211515108 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3447A>G (p.Lys1149=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002071244]	Chr2:210650405 [GRCh38] Chr2:211515129 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1707+11T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002146056]	Chr2:210600723 [GRCh38] Chr2:211465447 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3405-9C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002192101]	Chr2:210650354 [GRCh38] Chr2:211515078 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3336+10G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002127886]	Chr2:210648067 [GRCh38] Chr2:211512791 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2334T>C (p.Leu778=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002092012]	Chr2:210608502 [GRCh38] Chr2:211473226 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.237-4C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002088622]	Chr2:210576342 [GRCh38] Chr2:211441066 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.255T>C (p.Thr85=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002148695]	Chr2:210576364 [GRCh38] Chr2:211441088 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4162-4G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002192578]	Chr2:210675724 [GRCh38] Chr2:211540448 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1558C>T (p.Leu520=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002086388]	Chr2:210600563 [GRCh38] Chr2:211465287 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3088C>T (p.Leu1030=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002187933]	Chr2:210642612 [GRCh38] Chr2:211507336 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.768T>C (p.Tyr256=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002146637]	Chr2:210590162 [GRCh38] Chr2:211454886 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1708-5G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002166974]	Chr2:210602197 [GRCh38] Chr2:211466921 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.529-15T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002135116]	Chr2:210582602 [GRCh38] Chr2:211447326 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3183A>G (p.Pro1061=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002197639]	Chr2:210647904 [GRCh38] Chr2:211512628 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3927+9T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002186695]	Chr2:210660664 [GRCh38] Chr2:211525388 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2960-10G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002129020]	Chr2:210642474 [GRCh38] Chr2:211507198 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1764C>A (p.Ser588=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002195037]	Chr2:210602258 [GRCh38] Chr2:211466982 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2922T>C (p.His974=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002078439]	Chr2:210640022 [GRCh38] Chr2:211504746 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3559-20T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002196691]	Chr2:210656505 [GRCh38] Chr2:211521229 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4005G>T (p.Val1335=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002116497]	Chr2:210668188 [GRCh38] Chr2:211532912 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2322C>G (p.Pro774=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002152900]	Chr2:210608490 [GRCh38] Chr2:211473214 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4494A>G (p.Lys1498=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002149234]	Chr2:210677976 [GRCh38] Chr2:211542700 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2688-6T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002093079]	Chr2:210637696 [GRCh38] Chr2:211502420 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2652T>C (p.Ile884=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002093100]	Chr2:210616506 [GRCh38] Chr2:211481230 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1482G>A (p.Glu494=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002080251]	Chr2:210599494 [GRCh38] Chr2:211464218 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3672G>A (p.Lys1224=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002078024]	Chr2:210658604 [GRCh38] Chr2:211523328 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1165-17G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002129580]	Chr2:210594491 [GRCh38] Chr2:211459215 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.529-11T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002213827]	Chr2:210582606 [GRCh38] Chr2:211447330 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.990T>C (p.Ala330=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002196309]	Chr2:210591873 [GRCh38] Chr2:211456597 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1038T>G (p.Pro346=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002112740]	Chr2:210591921 [GRCh38] Chr2:211456645 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2946T>A (p.Gly982=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002144884]	Chr2:210640046 [GRCh38] Chr2:211504770 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.747T>C (p.His249=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002153564]	Chr2:210590141 [GRCh38] Chr2:211454865 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1550-9C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002151546]	Chr2:210600546 [GRCh38] Chr2:211465270 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2277A>G (p.Ser759=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002213745]	Chr2:210608445 [GRCh38] Chr2:211473169 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2687+9G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002193979]	Chr2:210616550 [GRCh38] Chr2:211481274 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1698A>G (p.Ala566=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002197544]	Chr2:210600703 [GRCh38] Chr2:211465427 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2892T>A (p.Gly964=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002214571]	Chr2:210639212 [GRCh38] Chr2:211503936 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1836+15A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002110240]	Chr2:210602345 [GRCh38] Chr2:211467069 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3928-19T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002117378]	Chr2:210663104 [GRCh38] Chr2:211527828 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4089G>C (p.Leu1363=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002187814]	Chr2:210668272 [GRCh38] Chr2:211532996 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2616C>T (p.Tyr872=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002130469]	Chr2:210616470 [GRCh38] Chr2:211481194 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1981+7A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002171881]	Chr2:210605253 [GRCh38] Chr2:211469977 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1977C>T (p.His659=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002196002]	Chr2:210605242 [GRCh38] Chr2:211469966 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3864T>C (p.Val1288=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002095725]	Chr2:210660592 [GRCh38] Chr2:211525316 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2748G>A (p.Gln916=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002094412]	Chr2:210637762 [GRCh38] Chr2:211502486 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1264-10T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002150784]	Chr2:210595477 [GRCh38] Chr2:211460201 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1959T>C (p.Val653=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002134279]	Chr2:210605224 [GRCh38] Chr2:211469948 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2427C>T (p.Phe809=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002080884]	Chr2:210612152 [GRCh38] Chr2:211476876 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2436T>G (p.Ala812=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002174707]	Chr2:210612161 [GRCh38] Chr2:211476885 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1245A>G (p.Leu415=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002095276]	Chr2:210594588 [GRCh38] Chr2:211459312 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1458C>A (p.Pro486=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002133044]	Chr2:210599470 [GRCh38] Chr2:211464194 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2469C>T (p.Phe823=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002134148]	Chr2:210612194 [GRCh38] Chr2:211476918 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3036G>T (p.Val1012=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002196618]	Chr2:210642560 [GRCh38] Chr2:211507284 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1275C>T (p.Val425=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002174722]	Chr2:210595498 [GRCh38] Chr2:211460222 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3906T>G (p.Pro1302=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002093575]	Chr2:210660634 [GRCh38] Chr2:211525358 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2547G>A (p.Thr849=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002195421]	Chr2:210612272 [GRCh38] Chr2:211476996 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.9G>A (p.Arg3=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002209511]	Chr2:210556742 [GRCh38] Chr2:211421466 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4128T>C (p.Gly1376=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002076071]	Chr2:210674928 [GRCh38] Chr2:211539652 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2064T>G (p.Val688=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002188492]	Chr2:210606813 [GRCh38] Chr2:211471537 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.177C>T (p.Tyr59=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002091441]	Chr2:210573348 [GRCh38] Chr2:211438072 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3903T>A (p.Ile1301=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002188633]	Chr2:210660631 [GRCh38] Chr2:211525355 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3225C>T (p.Ile1075=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002096156]	Chr2:210647946 [GRCh38] Chr2:211512670 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4377T>C (p.Ser1459=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002086282]	Chr2:210677109 [GRCh38] Chr2:211541833 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.78C>T (p.His26=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002188852]	Chr2:210556811 [GRCh38] Chr2:211421535 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.330T>C (p.Thr110=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002210161]	Chr2:210576439 [GRCh38] Chr2:211441163 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2959+9A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002211644]	Chr2:210640068 [GRCh38] Chr2:211504792 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2830-9C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002113615]	Chr2:210639141 [GRCh38] Chr2:211503865 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1981+7A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002132731]	Chr2:210605253 [GRCh38] Chr2:211469977 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3687G>A (p.Lys1229=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002210410]	Chr2:210658619 [GRCh38] Chr2:211523343 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.84A>G (p.Lys28=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002196320]	Chr2:210556817 [GRCh38] Chr2:211421541 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3927+16A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002209010]	Chr2:210660671 [GRCh38] Chr2:211525395 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.472-8dup	duplication	Congenital hyperammonemia, type I [RCV002136904]	Chr2:210579699..210579700 [GRCh38] Chr2:211444423..211444424 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1473T>C (p.Phe491=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002121285]	Chr2:210599485 [GRCh38] Chr2:211464209 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2415T>C (p.Phe805=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002103634]	Chr2:210612140 [GRCh38] Chr2:211476864 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4274+8C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002197667]	Chr2:210675848 [GRCh38] Chr2:211540572 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2970G>A (p.Val990=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002218239]	Chr2:210642494 [GRCh38] Chr2:211507218 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3928-6C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002123213]	Chr2:210663117 [GRCh38] Chr2:211527841 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.669A>G (p.Val223=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002159696]	Chr2:210588105 [GRCh38] Chr2:211452829 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2688-16T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002081341]	Chr2:210637686 [GRCh38] Chr2:211502410 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2301T>C (p.Asp767=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002083183]	Chr2:210608469 [GRCh38] Chr2:211473193 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.336G>C (p.Leu112=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002177310]	Chr2:210576445 [GRCh38] Chr2:211441169 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.840+9A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002179309]	Chr2:210590243 [GRCh38] Chr2:211454967 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2745G>A (p.Lys915=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002177370]	Chr2:210637759 [GRCh38] Chr2:211502483 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4029T>C (p.His1343=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002198330]	Chr2:210668212 [GRCh38] Chr2:211532936 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3756+14A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002119928]	Chr2:210658702 [GRCh38] Chr2:211523426 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.621+8del	deletion	Congenital hyperammonemia, type I [RCV002084039]	Chr2:210582714 [GRCh38] Chr2:211447438 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1923T>C (p.Asp641=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002204243]	Chr2:210605188 [GRCh38] Chr2:211469912 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3909T>C (p.Ala1303=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002160573]	Chr2:210660637 [GRCh38] Chr2:211525361 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1965C>T (p.Ala655=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002181979]	Chr2:210605230 [GRCh38] Chr2:211469954 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4332A>G (p.Lys1444=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002198953]	Chr2:210677064 [GRCh38] Chr2:211541788 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2322C>A (p.Pro774=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002202914]	Chr2:210608490 [GRCh38] Chr2:211473214 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3007C>T (p.Leu1003=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002118940]	Chr2:210642531 [GRCh38] Chr2:211507255 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.33G>A (p.Val11=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002178455]	Chr2:210556766 [GRCh38] Chr2:211421490 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3928-22_3928-20del	deletion	Congenital hyperammonemia, type I [RCV002103348]	Chr2:210663101..210663103 [GRCh38] Chr2:211527825..211527827 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1926C>T (p.Asp642=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002137164]	Chr2:210605191 [GRCh38] Chr2:211469915 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4182A>C (p.Thr1394=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002121307]	Chr2:210675748 [GRCh38] Chr2:211540472 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1638C>T (p.Asp546=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002180930]	Chr2:210600643 [GRCh38] Chr2:211465367 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1836+14T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002201544]	Chr2:210602344 [GRCh38] Chr2:211467068 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.127-7T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002181116]	Chr2:210573291 [GRCh38] Chr2:211438015 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.882T>C (p.Ser294=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002175490]	Chr2:210590841 [GRCh38] Chr2:211455565 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4224G>C (p.Val1408=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002083696]	Chr2:210675790 [GRCh38] Chr2:211540514 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1982-10G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002181731]	Chr2:210606721 [GRCh38] Chr2:211471445 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4206T>C (p.Asn1402=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002175996]	Chr2:210675772 [GRCh38] Chr2:211540496 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3405-19T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002198500]	Chr2:210650344 [GRCh38] Chr2:211515068 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2796G>A (p.Arg932=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002124064]	Chr2:210637810 [GRCh38] Chr2:211502534 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.813A>C (p.Ala271=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002163937]	Chr2:210590207 [GRCh38] Chr2:211454931 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.711+8A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002120251]	Chr2:210588155 [GRCh38] Chr2:211452879 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2940C>T (p.Gly980=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002143619]	Chr2:210640040 [GRCh38] Chr2:211504764 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3897C>T (p.Pro1299=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002084172]	Chr2:210660625 [GRCh38] Chr2:211525349 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3597A>C (p.Ala1199=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002162435]	Chr2:210656563 [GRCh38] Chr2:211521287 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3042T>C (p.Asn1014=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002120521]	Chr2:210642566 [GRCh38] Chr2:211507290 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2193-4A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002102923]	Chr2:210608357 [GRCh38] Chr2:211473081 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2103T>C (p.Phe701=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002183912]	Chr2:210606852 [GRCh38] Chr2:211471576 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3450A>G (p.Lys1150=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002164347]	Chr2:210650408 [GRCh38] Chr2:211515132 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.375A>G (p.Gly125=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002180323]	Chr2:210576484 [GRCh38] Chr2:211441208 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4122C>T (p.Phe1374=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002182129]	Chr2:210674922 [GRCh38] Chr2:211539646 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1540C>T (p.Leu514=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002162833]	Chr2:210599552 [GRCh38] Chr2:211464276 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3000C>A (p.Ile1000=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002083232]	Chr2:210642524 [GRCh38] Chr2:211507248 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3666+11A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002135641]	Chr2:210656643 [GRCh38] Chr2:211521367 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1623T>C (p.Ile541=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002163130]	Chr2:210600628 [GRCh38] Chr2:211465352 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2769C>T (p.Leu923=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002144451]	Chr2:210637783 [GRCh38] Chr2:211502507 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3948C>G (p.Pro1316=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002202099]	Chr2:210663143 [GRCh38] Chr2:211527867 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4275-15T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002179677]	Chr2:210676992 [GRCh38] Chr2:211541716 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2271G>A (p.Lys757=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002138109]	Chr2:210608439 [GRCh38] Chr2:211473163 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4350T>C (p.Tyr1450=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002198547]	Chr2:210677082 [GRCh38] Chr2:211541806 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1155A>C (p.Ile385=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002084293]	Chr2:210592947 [GRCh38] Chr2:211457671 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3886T>C (p.Leu1296=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002161971]	Chr2:210660614 [GRCh38] Chr2:211525338 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1837-4C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002202419]	Chr2:210605098 [GRCh38] Chr2:211469822 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.459A>G (p.Leu153=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002178443]	Chr2:210577498 [GRCh38] Chr2:211442222 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3711T>C (p.Ser1237=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002202638]	Chr2:210658643 [GRCh38] Chr2:211523367 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1982-7T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002155502]	Chr2:210606724 [GRCh38] Chr2:211471448 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3928-10T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002155881]	Chr2:210663113 [GRCh38] Chr2:211527837 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.382-7T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002139009]	Chr2:210577414 [GRCh38] Chr2:211442138 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4059A>C (p.Thr1353=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002156089]	Chr2:210668242 [GRCh38] Chr2:211532966 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2007C>A (p.Ala669=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002135774]	Chr2:210606756 [GRCh38] Chr2:211471480 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.237-4C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002083476]	Chr2:210576342 [GRCh38] Chr2:211441066 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4274+10A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002218725]	Chr2:210675850 [GRCh38] Chr2:211540574 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2830-5T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002157975]	Chr2:210639145 [GRCh38] Chr2:211503869 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1452T>C (p.Phe484=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002103997]	Chr2:210599464 [GRCh38] Chr2:211464188 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3780T>C (p.Ala1260=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002176006]	Chr2:210660508 [GRCh38] Chr2:211525232 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1767C>A (p.Ala589=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002217251]	Chr2:210602261 [GRCh38] Chr2:211466985 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4134T>G (p.Ala1378=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002120022]	Chr2:210674934 [GRCh38] Chr2:211539658 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1209T>A (p.Ala403=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002176098]	Chr2:210594552 [GRCh38] Chr2:211459276 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4275-6T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002183726]	Chr2:210677001 [GRCh38] Chr2:211541725 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.528+10T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002200443]	Chr2:210579780 [GRCh38] Chr2:211444504 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3984G>A (p.Glu1328=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002120224]	Chr2:210663179 [GRCh38] Chr2:211527903 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.841-10C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002141826]	Chr2:210590790 [GRCh38] Chr2:211455514 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3510T>G (p.Val1170=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002204518]	Chr2:210654054 [GRCh38] Chr2:211518778 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.711+7A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002144361]	Chr2:210588154 [GRCh38] Chr2:211452878 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3667-20G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002155407]	Chr2:210658579 [GRCh38] Chr2:211523303 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1686T>C (p.Ala562=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002161070]	Chr2:210600691 [GRCh38] Chr2:211465415 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.996T>C (p.Ile332=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002142450]	Chr2:210591879 [GRCh38] Chr2:211456603 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.57C>T (p.Gly19=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002139086]	Chr2:210556790 [GRCh38] Chr2:211421514 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1264-17T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003110641]	Chr2:210595470 [GRCh38] Chr2:211460194 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.149T>C (p.Leu50Pro)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003110198]	Chr2:210573320 [GRCh38] Chr2:211438044 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3506TTG[1] (p.Val1170del)	microsatellite	Congenital hyperammonemia, type I [RCV003110199]	Chr2:210654050..210654052 [GRCh38] Chr2:211518774..211518776 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3793C>T (p.Pro1265Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003110200]	Chr2:210660521 [GRCh38] Chr2:211525245 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.616A>T (p.Thr206Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003110201]	Chr2:210582704 [GRCh38] Chr2:211447428 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1294G>A (p.Gly432Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003110202]	Chr2:210595517 [GRCh38] Chr2:211460241 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2493del (p.Glu832fs)	deletion	Congenital hyperammonemia, type I [RCV003110203]	Chr2:210612216 [GRCh38] Chr2:211476940 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2895+2T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003110204]	Chr2:210639217 [GRCh38] Chr2:211503941 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3067dup (p.Asp1023fs)	duplication	Congenital hyperammonemia, type I [RCV003110205]	Chr2:210642590..210642591 [GRCh38] Chr2:211507314..211507315 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3241del (p.Leu1081fs)	deletion	Congenital hyperammonemia, type I [RCV003110206]	Chr2:210647958 [GRCh38] Chr2:211512682 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3503A>T (p.Lys1168Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003110207]	Chr2:210654047 [GRCh38] Chr2:211518771 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.334C>G (p.Leu112Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003116961]	Chr2:210576443 [GRCh38] Chr2:211441167 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3477T>G (p.Ser1159=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003114867]	Chr2:210650435 [GRCh38] Chr2:211515159 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3928-8_3928-7del	deletion	Congenital hyperammonemia, type I [RCV003116228]	Chr2:210663115..210663116 [GRCh38] Chr2:211527839..211527840 [GRCh37] Chr2:2q34	likely benign
NC_000002.11:g.211436160_211541748del105589	deletion	Congenital hyperammonemia, type I [RCV003123424]	Chr2:211436160..211541748 [GRCh37] Chr2:2q34	likely pathogenic
NC_000002.11:g.(?_210636797)_(213403254_?)del	deletion	not provided [RCV003122874]	Chr2:210636797..213403254 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.127-6C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003120062]	Chr2:210573292 [GRCh38] Chr2:211438016 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1352_1359+1del	deletion	Congenital hyperammonemia, type I [RCV004788635]	Chr2:210595574..210595582 [GRCh38] Chr2:211460298..211460306 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3949C>T (p.Arg1317Trp)	single nucleotide variant	CPS1-related disorder [RCV004753665]\|Congenital hyperammonemia, type I [RCV003148048]	Chr2:210663144 [GRCh38] Chr2:211527868 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.3576C>G (p.Ile1192Met)	single nucleotide variant	not provided [RCV002283315]	Chr2:210656542 [GRCh38] Chr2:211521266 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1255C>T (p.Arg419Trp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003096026]\|Inborn genetic diseases [RCV004973391]\|not specified [RCV002266352]	Chr2:210594598 [GRCh38] Chr2:211459322 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1169T>G (p.Leu390Arg)	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003471300]\|not specified [RCV002266353]	Chr2:210594512 [GRCh38] Chr2:211459236 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.2002C>T (p.Pro668Ser)	single nucleotide variant	not specified [RCV003236502]	Chr2:210606751 [GRCh38] Chr2:211471475 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2713A>T (p.Lys905Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002289044]	Chr2:210637727 [GRCh38] Chr2:211502451 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1400C>A (p.Ala467Glu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002296979]	Chr2:210599412 [GRCh38] Chr2:211464136 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2764G>A (p.Gly922Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002297028]	Chr2:210637778 [GRCh38] Chr2:211502502 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4003-109TG[6]	microsatellite	not provided [RCV002281231]	Chr2:210668077..210668092 [GRCh38] Chr2:211532801..211532816 [GRCh37] Chr2:2q34	likely benign
NC_000002.11:g.(211507390_211512586)_211513223del	deletion	Congenital hyperammonemia, type I [RCV002282852]	Chr2:211512586..211513223 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4463T>C (p.Leu1488Pro)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002471656]	Chr2:210677945 [GRCh38] Chr2:211542669 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.675_676del (p.Cys225fs)	microsatellite	Congenital hyperammonemia, type I [RCV002470032]	Chr2:210588109..210588110 [GRCh38] Chr2:211452833..211452834 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1328A>C (p.Tyr443Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002471617]	Chr2:210595551 [GRCh38] Chr2:211460275 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1596del (p.Val533fs)	deletion	Congenital hyperammonemia, type I [RCV002727210]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003465821]	Chr2:210600599 [GRCh38] Chr2:211465323 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.460C>T (p.Gln154Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002306535]	Chr2:210577499 [GRCh38] Chr2:211442223 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2470_2471del (p.Thr824fs)	deletion	Congenital hyperammonemia, type I [RCV002306809]	Chr2:210612194..210612195 [GRCh38] Chr2:211476918..211476919 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3509_3511delinsA (p.Val1170fs)	indel	Congenital hyperammonemia, type I [RCV002307920]	Chr2:210654053..210654055 [GRCh38] Chr2:211518777..211518779 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3169G>T (p.Gly1057Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002308381]	Chr2:210647890 [GRCh38] Chr2:211512614 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2877T>G (p.Tyr959Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002309055]	Chr2:210639197 [GRCh38] Chr2:211503921 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2605_2606insGAAG (p.Lys869fs)	insertion	Congenital hyperammonemia, type I [RCV002308115]	Chr2:210616459..210616460 [GRCh38] Chr2:211481183..211481184 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3543_3546del (p.Gly1182fs)	deletion	Congenital hyperammonemia, type I [RCV002309509]	Chr2:210654087..210654090 [GRCh38] Chr2:211518811..211518814 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3933del (p.Met1312fs)	deletion	Congenital hyperammonemia, type I [RCV002309313]	Chr2:210663126 [GRCh38] Chr2:211527850 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2913del (p.Phe971fs)	deletion	Congenital hyperammonemia, type I [RCV002309347]	Chr2:210640010 [GRCh38] Chr2:211504734 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4273A>T (p.Lys1425Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002308348]	Chr2:210675839 [GRCh38] Chr2:211540563 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.486T>A (p.Tyr162Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002310304]	Chr2:210579728 [GRCh38] Chr2:211444452 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3812_3813insAGTATTC (p.Gly1272fs)	insertion	Congenital hyperammonemia, type I [RCV002306498]	Chr2:210660540..210660541 [GRCh38] Chr2:211525264..211525265 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2755A>T (p.Lys919Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002310202]	Chr2:210637769 [GRCh38] Chr2:211502493 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3661G>T (p.Glu1221Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002309820]	Chr2:210656627 [GRCh38] Chr2:211521351 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3977_3978del (p.Arg1326fs)	microsatellite	Congenital hyperammonemia, type I [RCV002308276]	Chr2:210663170..210663171 [GRCh38] Chr2:211527894..211527895 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3510_3511del (p.Glu1171fs)	deletion	Congenital hyperammonemia, type I [RCV002310380]	Chr2:210654054..210654055 [GRCh38] Chr2:211518778..211518779 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3542_3546delinsA (p.Val1181fs)	indel	Congenital hyperammonemia, type I [RCV002306746]	Chr2:210654086..210654090 [GRCh38] Chr2:211518810..211518814 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2533_2534del (p.Glu845fs)	deletion	Congenital hyperammonemia, type I [RCV002306625]	Chr2:210612258..210612259 [GRCh38] Chr2:211476982..211476983 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1970G>A (p.Gly657Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002300071]	Chr2:210605235 [GRCh38] Chr2:211469959 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1569_1570del (p.Gly524fs)	microsatellite	Congenital hyperammonemia, type I [RCV002307198]	Chr2:210600570..210600571 [GRCh38] Chr2:211465294..211465295 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3944G>A (p.Trp1315Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002309128]	Chr2:210663139 [GRCh38] Chr2:211527863 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3824_3825delinsGTCTCTT (p.Phe1275fs)	indel	Congenital hyperammonemia, type I [RCV002307030]	Chr2:210660552..210660553 [GRCh38] Chr2:211525276..211525277 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4388T>C (p.Leu1463Pro)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002296497]	Chr2:210677120 [GRCh38] Chr2:211541844 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2779C>T (p.Gln927Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002307264]	Chr2:210637793 [GRCh38] Chr2:211502517 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1770T>A (p.Tyr590Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002309190]	Chr2:210602264 [GRCh38] Chr2:211466988 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1826_1827del (p.Leu609fs)	deletion	Congenital hyperammonemia, type I [RCV002309218]	Chr2:210602319..210602320 [GRCh38] Chr2:211467043..211467044 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3319A>T (p.Lys1107Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002309109]	Chr2:210648040 [GRCh38] Chr2:211512764 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2144_2145del (p.Val715fs)	deletion	Congenital hyperammonemia, type I [RCV002309594]	Chr2:210606892..210606893 [GRCh38] Chr2:211471616..211471617 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1553_1555delinsA (p.Val518fs)	indel	Congenital hyperammonemia, type I [RCV002309721]	Chr2:210600558..210600560 [GRCh38] Chr2:211465282..211465284 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2943T>A (p.Cys981Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002307985]	Chr2:210640043 [GRCh38] Chr2:211504767 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1453del (p.Leu485fs)	deletion	Congenital hyperammonemia, type I [RCV002309876]	Chr2:210599465 [GRCh38] Chr2:211464189 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3298A>T (p.Lys1100Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002309879]	Chr2:210648019 [GRCh38] Chr2:211512743 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1855C>T (p.Gln619Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002309997]	Chr2:210605120 [GRCh38] Chr2:211469844 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2623A>T (p.Lys875Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002310074]	Chr2:210616477 [GRCh38] Chr2:211481201 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2017_2018del (p.Ser673fs)	microsatellite	Congenital hyperammonemia, type I [RCV002310060]	Chr2:210606763..210606764 [GRCh38] Chr2:211471487..211471488 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2725G>T (p.Glu909Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002310340]	Chr2:210637739 [GRCh38] Chr2:211502463 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1781_1782del (p.Gly594fs)	deletion	Congenital hyperammonemia, type I [RCV002310529]	Chr2:210602274..210602275 [GRCh38] Chr2:211466998..211466999 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3358A>T (p.Lys1120Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002306940]	Chr2:210648494 [GRCh38] Chr2:211513218 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3038_3039del (p.Val1013fs)	deletion	Congenital hyperammonemia, type I [RCV002307219]	Chr2:210642561..210642562 [GRCh38] Chr2:211507285..211507286 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1751_1752del (p.Val584fs)	deletion	Congenital hyperammonemia, type I [RCV002306629]	Chr2:210602244..210602245 [GRCh38] Chr2:211466968..211466969 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1509G>T (p.Gly503=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002614611]	Chr2:210599521 [GRCh38] Chr2:211464245 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2659A>G (p.Met887Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003012128]	Chr2:210616513 [GRCh38] Chr2:211481237 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3075T>C (p.Asp1025=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003014520]	Chr2:210642599 [GRCh38] Chr2:211507323 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4101G>A (p.Gln1367=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003013690]	Chr2:210668284 [GRCh38] Chr2:211533008 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1708-6T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002863025]	Chr2:210602196 [GRCh38] Chr2:211466920 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2925A>G (p.Gly975=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002880889]	Chr2:210640025 [GRCh38] Chr2:211504749 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2114C>G (p.Pro705Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002995461]\|Inborn genetic diseases [RCV005323278]	Chr2:210606863 [GRCh38] Chr2:211471587 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.4274+10A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002613825]	Chr2:210675850 [GRCh38] Chr2:211540574 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.879C>T (p.Ile293=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003095336]	Chr2:210590838 [GRCh38] Chr2:211455562 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3141+17A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002862399]	Chr2:210642682 [GRCh38] Chr2:211507406 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4102-1G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003015811]	Chr2:210674901 [GRCh38] Chr2:211539625 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1707G>A (p.Ser569=)	single nucleotide variant	CPS1-related disorder [RCV003898597]\|Congenital hyperammonemia, type I [RCV002904721]	Chr2:210600712 [GRCh38] Chr2:211465436 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.127-2A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002614393]	Chr2:210573296 [GRCh38] Chr2:211438020 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3141+18G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003014793]	Chr2:210642683 [GRCh38] Chr2:211507407 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.347G>A (p.Gly116Glu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003076974]	Chr2:210576456 [GRCh38] Chr2:211441180 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2134A>G (p.Ile712Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002948243]	Chr2:210606883 [GRCh38] Chr2:211471607 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1720C>T (p.Leu574=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002756453]	Chr2:210602214 [GRCh38] Chr2:211466938 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.783C>A (p.Ile261=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002843533]	Chr2:210590177 [GRCh38] Chr2:211454901 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2193-6T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002881793]	Chr2:210608355 [GRCh38] Chr2:211473079 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1360-11G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002907878]	Chr2:210599361 [GRCh38] Chr2:211464085 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4404+8C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002750095]	Chr2:210677144 [GRCh38] Chr2:211541868 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4239A>G (p.Gln1413=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003034135]	Chr2:210675805 [GRCh38] Chr2:211540529 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.442A>G (p.Ser148Gly)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002947836]\|Inborn genetic diseases [RCV002938827]	Chr2:210577481 [GRCh38] Chr2:211442205 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4483A>G (p.Ser1495Gly)	single nucleotide variant	Inborn genetic diseases [RCV002864303]	Chr2:210677965 [GRCh38] Chr2:211542689 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4320C>T (p.Asn1440=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002908970]	Chr2:210677052 [GRCh38] Chr2:211541776 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3559-7_3559-6del	deletion	Congenital hyperammonemia, type I [RCV002862079]	Chr2:210656518..210656519 [GRCh38] Chr2:211521242..211521243 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.651del (p.Thr218fs)	deletion	Congenital hyperammonemia, type I [RCV002880878]	Chr2:210588084 [GRCh38] Chr2:211452808 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.1189C>T (p.Leu397=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002880512]	Chr2:210594532 [GRCh38] Chr2:211459256 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4161G>A (p.Lys1387=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002995699]\|not provided [RCV004593116]	Chr2:210674961 [GRCh38] Chr2:211539685 [GRCh37] Chr2:2q34	conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.3915T>C (p.Tyr1305=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003033141]	Chr2:210660643 [GRCh38] Chr2:211525367 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3928-8dup	duplication	Congenital hyperammonemia, type I [RCV002615482]	Chr2:210663103..210663104 [GRCh38] Chr2:211527827..211527828 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3030G>C (p.Thr1010=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002815975]	Chr2:210642554 [GRCh38] Chr2:211507278 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1087-20C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003016433]	Chr2:210592859 [GRCh38] Chr2:211457583 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1836+16G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002755392]	Chr2:210602346 [GRCh38] Chr2:211467070 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2573T>C (p.Ile858Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002685411]	Chr2:210616427 [GRCh38] Chr2:211481151 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1549+1G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002861760]	Chr2:210599562 [GRCh38] Chr2:211464286 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2217A>C (p.Ala739=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002775091]	Chr2:210608385 [GRCh38] Chr2:211473109 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1836+8T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003033598]	Chr2:210602338 [GRCh38] Chr2:211467062 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2525del (p.Glu842fs)	deletion	Congenital hyperammonemia, type I [RCV002881873]\|Pulmonary hypertension, neonatal, susceptibility to [RCV004571787]	Chr2:210612250 [GRCh38] Chr2:211476974 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.3001C>T (p.Arg1001Cys)	single nucleotide variant	Inborn genetic diseases [RCV002860436]	Chr2:210642525 [GRCh38] Chr2:211507249 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.273A>G (p.Gly91=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002839522]	Chr2:210576382 [GRCh38] Chr2:211441106 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.817C>G (p.Pro273Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002775654]	Chr2:210590211 [GRCh38] Chr2:211454935 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.4231C>T (p.Pro1411Ser)	single nucleotide variant	CPS1-related disorder [RCV003404055]\|Congenital hyperammonemia, type I [RCV003074754]	Chr2:210675797 [GRCh38] Chr2:211540521 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1264-3T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002975289]	Chr2:210595484 [GRCh38] Chr2:211460208 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.924C>G (p.Thr308=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002862614]	Chr2:210590883 [GRCh38] Chr2:211455607 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1970del (p.Gly657fs)	deletion	Congenital hyperammonemia, type I [RCV002842530]	Chr2:210605233 [GRCh38] Chr2:211469957 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.622-4dup	duplication	Congenital hyperammonemia, type I [RCV003035011]	Chr2:210588052..210588053 [GRCh38] Chr2:211452776..211452777 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4442G>A (p.Arg1481His)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002970594]	Chr2:210677924 [GRCh38] Chr2:211542648 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3462G>A (p.Glu1154=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002755373]	Chr2:210650420 [GRCh38] Chr2:211515144 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4437A>G (p.Lys1479=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003075325]	Chr2:210677919 [GRCh38] Chr2:211542643 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.911C>T (p.Ala304Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002972371]	Chr2:210590870 [GRCh38] Chr2:211455594 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.946A>T (p.Arg316Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003017320]	Chr2:210590905 [GRCh38] Chr2:211455629 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2817T>C (p.Pro939=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002905012]	Chr2:210637831 [GRCh38] Chr2:211502555 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.192A>G (p.Pro64=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002837567]	Chr2:210573363 [GRCh38] Chr2:211438087 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2045G>A (p.Arg682His)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603137]\|Inborn genetic diseases [RCV002777529]	Chr2:210606794 [GRCh38] Chr2:211471518 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.4500A>G (p.Ala1500=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003013448]	Chr2:210677982 [GRCh38] Chr2:211542706 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1413C>T (p.Thr471=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003039299]	Chr2:210599425 [GRCh38] Chr2:211464149 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2896-3del	deletion	Congenital hyperammonemia, type I [RCV002662876]	Chr2:210639993 [GRCh38] Chr2:211504717 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2052A>T (p.Ser684=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002825332]	Chr2:210606801 [GRCh38] Chr2:211471525 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.194C>T (p.Ser65Phe)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002976729]	Chr2:210573365 [GRCh38] Chr2:211438089 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4457A>G (p.Lys1486Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003080441]	Chr2:210677939 [GRCh38] Chr2:211542663 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1910T>C (p.Val637Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002927469]\|Congenital hyperammonemia, type I [RCV005028024]	Chr2:210605175 [GRCh38] Chr2:211469899 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.841-8T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002913910]	Chr2:210590792 [GRCh38] Chr2:211455516 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2871T>C (p.Tyr957=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003018992]	Chr2:210639191 [GRCh38] Chr2:211503915 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4365A>G (p.Thr1455=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002824469]	Chr2:210677097 [GRCh38] Chr2:211541821 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1161T>C (p.Thr387=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002953358]	Chr2:210592953 [GRCh38] Chr2:211457677 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1312G>T (p.Ala438Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005028349]\|Inborn genetic diseases [RCV002692224]	Chr2:210595535 [GRCh38] Chr2:211460259 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.1153A>G (p.Ile385Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002622333]	Chr2:210592945 [GRCh38] Chr2:211457669 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2192+8C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002796957]	Chr2:210606949 [GRCh38] Chr2:211471673 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.114C>T (p.Leu38=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003021260]	Chr2:210556847 [GRCh38] Chr2:211421571 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1536A>G (p.Thr512=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002785703]	Chr2:210599548 [GRCh38] Chr2:211464272 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1359+7G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002871190]	Chr2:210595589 [GRCh38] Chr2:211460313 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2973A>G (p.Glu991=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003017993]	Chr2:210642497 [GRCh38] Chr2:211507221 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4190G>A (p.Trp1397Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002885434]	Chr2:210675756 [GRCh38] Chr2:211540480 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.786G>T (p.Ala262=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003054364]	Chr2:210590180 [GRCh38] Chr2:211454904 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1770T>C (p.Tyr590=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002619778]	Chr2:210602264 [GRCh38] Chr2:211466988 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2856A>G (p.Pro952=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002735760]	Chr2:210639176 [GRCh38] Chr2:211503900 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1013G>A (p.Gly338Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002735327]	Chr2:210591896 [GRCh38] Chr2:211456620 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.840+7T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002912810]	Chr2:210590241 [GRCh38] Chr2:211454965 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1670T>C (p.Ile557Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002735830]	Chr2:210600675 [GRCh38] Chr2:211465399 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3634A>G (p.Thr1212Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003077659]\|Inborn genetic diseases [RCV005323323]	Chr2:210656600 [GRCh38] Chr2:211521324 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.1930del (p.Cys644fs)	deletion	Congenital hyperammonemia, type I [RCV003603134]\|Inborn genetic diseases [RCV002692158]	Chr2:210605194 [GRCh38] Chr2:211469918 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2401A>G (p.Ile801Val)	single nucleotide variant	Inborn genetic diseases [RCV002738205]	Chr2:210612126 [GRCh38] Chr2:211476850 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1164+12del	deletion	Congenital hyperammonemia, type I [RCV002760648]	Chr2:210592964 [GRCh38] Chr2:211457688 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3451T>C (p.Phe1151Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003080180]\|Inborn genetic diseases [RCV003091860]	Chr2:210650409 [GRCh38] Chr2:211515133 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.4274+16A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002637847]	Chr2:210675856 [GRCh38] Chr2:211540580 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3036G>A (p.Val1012=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002998927]	Chr2:210642560 [GRCh38] Chr2:211507284 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3858G>A (p.Glu1286=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002847499]	Chr2:210660586 [GRCh38] Chr2:211525310 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4220C>T (p.Pro1407Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002591661]	Chr2:210675786 [GRCh38] Chr2:211540510 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.972T>G (p.Asn324Lys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002638092]\|Inborn genetic diseases [RCV002644066]	Chr2:210591855 [GRCh38] Chr2:211456579 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.108C>T (p.Ile36=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002658960]	Chr2:210556841 [GRCh38] Chr2:211421565 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4312C>A (p.Leu1438Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002948747]	Chr2:210677044 [GRCh38] Chr2:211541768 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4003-7T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002636385]	Chr2:210668179 [GRCh38] Chr2:211532903 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2193-5T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002781338]	Chr2:210608356 [GRCh38] Chr2:211473080 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3565T>A (p.Ser1189Thr)	single nucleotide variant	Inborn genetic diseases [RCV002782478]	Chr2:210656531 [GRCh38] Chr2:211521255 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3120C>T (p.Ile1040=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002761421]	Chr2:210642644 [GRCh38] Chr2:211507368 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4111C>T (p.Arg1371Trp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002953237]\|Inborn genetic diseases [RCV003274093]	Chr2:210674911 [GRCh38] Chr2:211539635 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.127-6C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002868058]	Chr2:210573292 [GRCh38] Chr2:211438016 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1692T>A (p.Ser564Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002735149]	Chr2:210600697 [GRCh38] Chr2:211465421 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3851T>C (p.Ile1284Thr)	single nucleotide variant	Inborn genetic diseases [RCV002911349]	Chr2:210660579 [GRCh38] Chr2:211525303 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1737C>T (p.Thr579=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003053834]	Chr2:210602231 [GRCh38] Chr2:211466955 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2083G>A (p.Gly695Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002761312]	Chr2:210606832 [GRCh38] Chr2:211471556 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3669G>A (p.Val1223=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003021225]	Chr2:210658601 [GRCh38] Chr2:211523325 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.261T>C (p.Pro87=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003077474]	Chr2:210576370 [GRCh38] Chr2:211441094 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3442A>T (p.Met1148Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002781195]	Chr2:210650400 [GRCh38] Chr2:211515124 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1981+1G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002999778]\|Pulmonary hypertension, neonatal, susceptibility to [RCV004572514]\|not provided [RCV003481364]	Chr2:210605247 [GRCh38] Chr2:211469971 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2654T>C (p.Leu885Ser)	single nucleotide variant	Inborn genetic diseases [RCV002823380]	Chr2:210616508 [GRCh38] Chr2:211481232 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3498G>C (p.Leu1166=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002706330]	Chr2:210654042 [GRCh38] Chr2:211518766 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3084C>T (p.Asp1028=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003035653]	Chr2:210642608 [GRCh38] Chr2:211507332 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1381C>T (p.Leu461=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002735321]	Chr2:210599393 [GRCh38] Chr2:211464117 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.521G>A (p.Arg174Gln)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002637892]\|not provided [RCV003236951]	Chr2:210579763 [GRCh38] Chr2:211444487 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2192G>A (p.Gly731Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003019625]	Chr2:210606941 [GRCh38] Chr2:211471665 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2868C>T (p.Asn956=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003080062]	Chr2:210639188 [GRCh38] Chr2:211503912 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.869dup (p.Leu290fs)	duplication	Congenital hyperammonemia, type I [RCV002976506]\|Pulmonary hypertension, neonatal, susceptibility to [RCV004572499]	Chr2:210590826..210590827 [GRCh38] Chr2:211455550..211455551 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.3262G>A (p.Asp1088Asn)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002659573]	Chr2:210647983 [GRCh38] Chr2:211512707 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1302C>A (p.Ser434=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003055315]	Chr2:210595525 [GRCh38] Chr2:211460249 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2196C>T (p.Tyr732=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002695607]	Chr2:210608364 [GRCh38] Chr2:211473088 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2588C>T (p.Ser863Phe)	single nucleotide variant	CPS1-related disorder [RCV003395583]\|Congenital hyperammonemia, type I [RCV003078903]	Chr2:210616442 [GRCh38] Chr2:211481166 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2226C>T (p.Ala742=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002621140]	Chr2:210608394 [GRCh38] Chr2:211473118 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2991C>G (p.Val997=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002848431]	Chr2:210642515 [GRCh38] Chr2:211507239 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3696G>A (p.Lys1232=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002592874]	Chr2:210658628 [GRCh38] Chr2:211523352 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1263+12G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002735545]	Chr2:210594618 [GRCh38] Chr2:211459342 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3928-4A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002736401]	Chr2:210663119 [GRCh38] Chr2:211527843 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1221_1222del (p.Val409fs)	deletion	Congenital hyperammonemia, type I [RCV002658510]	Chr2:210594564..210594565 [GRCh38] Chr2:211459288..211459289 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3523G>C (p.Glu1175Gln)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003079312]	Chr2:210654067 [GRCh38] Chr2:211518791 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.568G>A (p.Val190Met)	single nucleotide variant	Inborn genetic diseases [RCV002884285]	Chr2:210582656 [GRCh38] Chr2:211447380 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1550-6C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002796462]	Chr2:210600549 [GRCh38] Chr2:211465273 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.984A>G (p.Lys328=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002927130]	Chr2:210591867 [GRCh38] Chr2:211456591 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3132C>G (p.Tyr1044Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003036627]	Chr2:210642656 [GRCh38] Chr2:211507380 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.4077G>A (p.Gln1359=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002853414]	Chr2:210668260 [GRCh38] Chr2:211532984 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1165-16T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002766712]	Chr2:210594492 [GRCh38] Chr2:211459216 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2613A>G (p.Thr871=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002828316]	Chr2:210616467 [GRCh38] Chr2:211481191 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.754A>G (p.Thr252Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002982734]\|Inborn genetic diseases [RCV002982733]	Chr2:210590148 [GRCh38] Chr2:211454872 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.3010C>T (p.Arg1004Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003060460]\|Inborn genetic diseases [RCV003058735]	Chr2:210642534 [GRCh38] Chr2:211507258 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.105C>A (p.Gly35=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002853091]	Chr2:210556838 [GRCh38] Chr2:211421562 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1146G>T (p.Pro382=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002853095]	Chr2:210592938 [GRCh38] Chr2:211457662 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3573C>T (p.Ala1191=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002801065]	Chr2:210656539 [GRCh38] Chr2:211521263 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4209C>A (p.Val1403=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002933197]	Chr2:210675775 [GRCh38] Chr2:211540499 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1233G>A (p.Pro411=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002667306]	Chr2:210594576 [GRCh38] Chr2:211459300 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2959+16A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002712162]	Chr2:210640075 [GRCh38] Chr2:211504799 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3579T>C (p.Ser1193=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002663792]	Chr2:210656545 [GRCh38] Chr2:211521269 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2975T>C (p.Phe992Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002664280]\|not specified [RCV003324082]	Chr2:210642499 [GRCh38] Chr2:211507223 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1164+3A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003058529]	Chr2:210592959 [GRCh38] Chr2:211457683 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4237C>G (p.Gln1413Glu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003058477]\|Inborn genetic diseases [RCV004070146]	Chr2:210675803 [GRCh38] Chr2:211540527 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.422A>G (p.Asn141Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002745753]	Chr2:210577461 [GRCh38] Chr2:211442185 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.888A>G (p.Gly296=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002790269]	Chr2:210590847 [GRCh38] Chr2:211455571 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.529-6T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002643788]	Chr2:210582611 [GRCh38] Chr2:211447335 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3190C>T (p.Leu1064=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003057694]	Chr2:210647911 [GRCh38] Chr2:211512635 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1196A>G (p.Lys399Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002623957]	Chr2:210594539 [GRCh38] Chr2:211459263 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3454C>T (p.Leu1152=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002801510]	Chr2:210650412 [GRCh38] Chr2:211515136 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.687C>T (p.Asn229=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003023300]	Chr2:210588123 [GRCh38] Chr2:211452847 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1198_1201del (p.Lys400fs)	microsatellite	Congenital hyperammonemia, type I [RCV003057765]	Chr2:210594537..210594540 [GRCh38] Chr2:211459261..211459264 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.1908G>T (p.Val636=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002801063]	Chr2:210605173 [GRCh38] Chr2:211469897 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4102-8C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002595477]	Chr2:210674894 [GRCh38] Chr2:211539618 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.948-4C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003005207]	Chr2:210591827 [GRCh38] Chr2:211456551 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4082G>A (p.Gly1361Asp)	single nucleotide variant	Inborn genetic diseases [RCV002955239]	Chr2:210668265 [GRCh38] Chr2:211532989 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2266G>A (p.Gly756Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002595836]	Chr2:210608434 [GRCh38] Chr2:211473158 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.147C>T (p.Val49=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002928476]	Chr2:210573318 [GRCh38] Chr2:211438042 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4325A>G (p.Asn1442Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002929029]	Chr2:210677057 [GRCh38] Chr2:211541781 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.450G>A (p.Gly150=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002667788]	Chr2:210577489 [GRCh38] Chr2:211442213 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4109T>C (p.Phe1370Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002851316]	Chr2:210674909 [GRCh38] Chr2:211539633 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3282T>A (p.Ala1094=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002572356]	Chr2:210648003 [GRCh38] Chr2:211512727 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.412A>C (p.Lys138Gln)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003082243]	Chr2:210577451 [GRCh38] Chr2:211442175 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1122G>T (p.Val374=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003059084]	Chr2:210592914 [GRCh38] Chr2:211457638 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.546G>A (p.Lys182=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002625246]	Chr2:210582634 [GRCh38] Chr2:211447358 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2233A>C (p.Ile745Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002745566]	Chr2:210608401 [GRCh38] Chr2:211473125 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1016A>G (p.Tyr339Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003083573]	Chr2:210591899 [GRCh38] Chr2:211456623 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1199A>C (p.Lys400Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003043210]	Chr2:210594542 [GRCh38] Chr2:211459266 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3568C>T (p.His1190Tyr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002982946]	Chr2:210656534 [GRCh38] Chr2:211521258 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3510T>C (p.Val1170=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002712083]	Chr2:210654054 [GRCh38] Chr2:211518778 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1164+13G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002928448]	Chr2:210592969 [GRCh38] Chr2:211457693 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1491G>A (p.Lys497=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002932135]	Chr2:210599503 [GRCh38] Chr2:211464227 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3683_3756+772del	deletion	Congenital hyperammonemia, type I [RCV003056366]	Chr2:210658597..210659442 [GRCh38] Chr2:211523321..211524166 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.382-8C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003022949]	Chr2:210577413 [GRCh38] Chr2:211442137 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.348A>G (p.Gly116=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002644105]	Chr2:210576457 [GRCh38] Chr2:211441181 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.927C>G (p.Tyr309Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002875882]	Chr2:210590886 [GRCh38] Chr2:211455610 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3786A>G (p.Arg1262=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002851257]	Chr2:210660514 [GRCh38] Chr2:211525238 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3927+20A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002575268]	Chr2:210660675 [GRCh38] Chr2:211525399 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1242A>G (p.Ala414=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002894021]	Chr2:210594585 [GRCh38] Chr2:211459309 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.221A>G (p.Asn74Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003058997]	Chr2:210573392 [GRCh38] Chr2:211438116 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.904T>A (p.Leu302Met)	single nucleotide variant	Inborn genetic diseases [RCV002697643]	Chr2:210590863 [GRCh38] Chr2:211455587 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1706C>T (p.Ser569Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003083960]	Chr2:210600711 [GRCh38] Chr2:211465435 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4479G>A (p.Gln1493=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002596710]	Chr2:210677961 [GRCh38] Chr2:211542685 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2181A>C (p.Ser727=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002830188]	Chr2:210606930 [GRCh38] Chr2:211471654 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2244A>G (p.Pro748=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003057196]	Chr2:210608412 [GRCh38] Chr2:211473136 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1747C>T (p.Pro583Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002701287]	Chr2:210602241 [GRCh38] Chr2:211466965 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.563A>G (p.Gln188Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003084118]\|Inborn genetic diseases [RCV005323328]	Chr2:210582651 [GRCh38] Chr2:211447375 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3142-4C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002765819]	Chr2:210647859 [GRCh38] Chr2:211512583 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3480+7T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002801098]	Chr2:210650445 [GRCh38] Chr2:211515169 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4405-15C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003056394]	Chr2:210677872 [GRCh38] Chr2:211542596 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4162-13A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002954409]	Chr2:210675715 [GRCh38] Chr2:211540439 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2548C>T (p.Arg850Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002651594]\|Congenital hyperammonemia, type I [RCV005028325]\|Hereditary breast ovarian cancer syndrome [RCV004540597]\|Pulmonary hypertension, neonatal, susceptibility to [RCV004572812]	Chr2:210612273 [GRCh38] Chr2:211476997 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.2756A>C (p.Lys919Thr)	single nucleotide variant	Inborn genetic diseases [RCV002960165]	Chr2:210637770 [GRCh38] Chr2:211502494 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4051C>T (p.Leu1351Phe)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002835252]	Chr2:210668234 [GRCh38] Chr2:211532958 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.763G>A (p.Glu255Lys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003087930]	Chr2:210590157 [GRCh38] Chr2:211454881 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3141+16del	deletion	Congenital hyperammonemia, type I [RCV003031595]	Chr2:210642681 [GRCh38] Chr2:211507405 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1263+8T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003062864]	Chr2:210594614 [GRCh38] Chr2:211459338 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.3465G>T (p.Ala1155=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003064030]	Chr2:210650423 [GRCh38] Chr2:211515147 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2058T>C (p.Asn686=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002746258]	Chr2:210606807 [GRCh38] Chr2:211471531 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.319C>T (p.Pro107Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002628257]\|Inborn genetic diseases [RCV004978695]	Chr2:210576428 [GRCh38] Chr2:211441152 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.126+13T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003048842]	Chr2:210556872 [GRCh38] Chr2:211421596 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1100A>C (p.Glu367Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003060919]	Chr2:210592892 [GRCh38] Chr2:211457616 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.729C>G (p.His243Gln)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002650311]\|Inborn genetic diseases [RCV004973538]	Chr2:210590123 [GRCh38] Chr2:211454847 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.4161+1G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002720739]	Chr2:210674962 [GRCh38] Chr2:211539686 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.801C>T (p.Asn267=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003030316]	Chr2:210590195 [GRCh38] Chr2:211454919 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2515C>T (p.Leu839Phe)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003063604]	Chr2:210612240 [GRCh38] Chr2:211476964 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2830-1G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002898785]	Chr2:210639149 [GRCh38] Chr2:211503873 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2895+1G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002651595]	Chr2:210639216 [GRCh38] Chr2:211503940 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.866del (p.Pro289fs)	deletion	Congenital hyperammonemia, type I [RCV002651591]\|Congenital hyperammonemia, type I [RCV005028324]	Chr2:210590824 [GRCh38] Chr2:211455548 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.4252C>G (p.Pro1418Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002651254]\|Inborn genetic diseases [RCV005323376]	Chr2:210675818 [GRCh38] Chr2:211540542 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3667-15T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002581726]	Chr2:210658584 [GRCh38] Chr2:211523308 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2498G>A (p.Trp833Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003087104]	Chr2:210612223 [GRCh38] Chr2:211476947 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.693A>C (p.Val231=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002933640]	Chr2:210588129 [GRCh38] Chr2:211452853 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.283A>T (p.Thr95Ser)	single nucleotide variant	Inborn genetic diseases [RCV002920385]	Chr2:210576392 [GRCh38] Chr2:211441116 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2033A>G (p.Gln678Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002578130]	Chr2:210606782 [GRCh38] Chr2:211471506 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4357C>A (p.Arg1453=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002627718]	Chr2:210677089 [GRCh38] Chr2:211541813 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.411T>A (p.Ser137Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003086783]	Chr2:210577450 [GRCh38] Chr2:211442174 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1031C>T (p.Thr344Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002962828]	Chr2:210591914 [GRCh38] Chr2:211456638 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2512G>A (p.Asp838Asn)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003060379]\|Inborn genetic diseases [RCV004614322]	Chr2:210612237 [GRCh38] Chr2:211476961 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001875.5(CPS1):c.1360-7_1360-6del	deletion	Congenital hyperammonemia, type I [RCV003061453]	Chr2:210599364..210599365 [GRCh38] Chr2:211464088..211464089 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3928G>T (p.Ala1310Ser)	single nucleotide variant	Inborn genetic diseases [RCV002935950]	Chr2:210663123 [GRCh38] Chr2:211527847 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3141+10G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002576867]	Chr2:210642675 [GRCh38] Chr2:211507399 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.442A>T (p.Ser148Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002577382]	Chr2:210577481 [GRCh38] Chr2:211442205 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1708-7T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002715448]	Chr2:210602195 [GRCh38] Chr2:211466919 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.2687+14G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003086777]	Chr2:210616555 [GRCh38] Chr2:211481279 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4274+8C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002630386]	Chr2:210675848 [GRCh38] Chr2:211540572 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1982-4A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003086533]	Chr2:210606727 [GRCh38] Chr2:211471451 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3267C>T (p.Arg1089=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002857739]	Chr2:210647988 [GRCh38] Chr2:211512712 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2242C>G (p.Pro748Ala)	single nucleotide variant	Inborn genetic diseases [RCV002854792]	Chr2:210608410 [GRCh38] Chr2:211473134 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.372T>C (p.Asn124=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002857661]	Chr2:210576481 [GRCh38] Chr2:211441205 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2382T>C (p.Ser794=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003091134]	Chr2:210608550 [GRCh38] Chr2:211473274 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.528+10T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003063784]	Chr2:210579780 [GRCh38] Chr2:211444504 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1891G>T (p.Glu631Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002671333]	Chr2:210605156 [GRCh38] Chr2:211469880 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2678G>T (p.Gly893Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497966]\|Inborn genetic diseases [RCV002959342]	Chr2:210616532 [GRCh38] Chr2:211481256 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.1018G>A (p.Ala340Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002921869]	Chr2:210591901 [GRCh38] Chr2:211456625 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.720T>C (p.Ala240=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003030425]	Chr2:210590114 [GRCh38] Chr2:211454838 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4102-9C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003087227]	Chr2:210674893 [GRCh38] Chr2:211539617 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4395T>C (p.Thr1465=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003026940]	Chr2:210677127 [GRCh38] Chr2:211541851 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.135A>G (p.Thr45=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003030181]	Chr2:210573306 [GRCh38] Chr2:211438030 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4283G>C (p.Arg1428Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003090603]	Chr2:210677015 [GRCh38] Chr2:211541739 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1815T>C (p.Thr605=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002791919]	Chr2:210602309 [GRCh38] Chr2:211467033 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.125del (p.Lys42fs)	deletion	Congenital hyperammonemia, type I [RCV002651590]	Chr2:210556857 [GRCh38] Chr2:211421581 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3141+26dup	duplication	Congenital hyperammonemia, type I [RCV002895836]	Chr2:210642683..210642684 [GRCh38] Chr2:211507407..211507408 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.622-11T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002807213]	Chr2:210588047 [GRCh38] Chr2:211452771 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3559-15T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003088409]	Chr2:210656510 [GRCh38] Chr2:211521234 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.529-5G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002720520]	Chr2:210582612 [GRCh38] Chr2:211447336 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1036C>T (p.Pro346Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003088865]	Chr2:210591919 [GRCh38] Chr2:211456643 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3480+9C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003026481]	Chr2:210650447 [GRCh38] Chr2:211515171 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1368T>G (p.Asn456Lys)	single nucleotide variant	Inborn genetic diseases [RCV002934308]	Chr2:210599380 [GRCh38] Chr2:211464104 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4106C>T (p.Ser1369Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002580949]	Chr2:210674906 [GRCh38] Chr2:211539630 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.784G>A (p.Ala262Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002628455]	Chr2:210590178 [GRCh38] Chr2:211454902 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.301A>G (p.Ile101Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002715875]	Chr2:210576410 [GRCh38] Chr2:211441134 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3875A>G (p.His1292Arg)	single nucleotide variant	Inborn genetic diseases [RCV002717550]	Chr2:210660603 [GRCh38] Chr2:211525327 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2546C>T (p.Thr849Met)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002716608]	Chr2:210612271 [GRCh38] Chr2:211476995 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.1264-6T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002857751]	Chr2:210595481 [GRCh38] Chr2:211460205 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2645G>A (p.Arg882His)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003060791]	Chr2:210616499 [GRCh38] Chr2:211481223 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.674G>C (p.Cys225Ser)	single nucleotide variant	Inborn genetic diseases [RCV002717647]	Chr2:210588110 [GRCh38] Chr2:211452834 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2337C>T (p.Asp779=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003065807]	Chr2:210608505 [GRCh38] Chr2:211473229 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1360-1G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002963200]	Chr2:210599371 [GRCh38] Chr2:211464095 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3149G>A (p.Gly1050Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002937790]	Chr2:210647870 [GRCh38] Chr2:211512594 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1014C>G (p.Gly338=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003060362]	Chr2:210591897 [GRCh38] Chr2:211456621 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1947C>T (p.Asn649=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002632058]	Chr2:210605212 [GRCh38] Chr2:211469936 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2830-14G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003060872]	Chr2:210639136 [GRCh38] Chr2:211503860 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1164+5G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002581798]	Chr2:210592961 [GRCh38] Chr2:211457685 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1436C>T (p.Ala479Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002629576]	Chr2:210599448 [GRCh38] Chr2:211464172 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3559G>T (p.Val1187Phe)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003008399]\|Congenital hyperammonemia, type I [RCV005028119]\|not specified [RCV004587408]	Chr2:210656525 [GRCh38] Chr2:211521249 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.1164+20C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002933519]	Chr2:210592976 [GRCh38] Chr2:211457700 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2477G>A (p.Arg826His)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003051024]	Chr2:210612202 [GRCh38] Chr2:211476926 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.1378G>C (p.Val460Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002584918]	Chr2:210599390 [GRCh38] Chr2:211464114 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.857G>A (p.Arg286His)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003067843]	Chr2:210590816 [GRCh38] Chr2:211455540 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.186C>A (p.Gly62=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002582861]	Chr2:210573357 [GRCh38] Chr2:211438081 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4111C>A (p.Arg1371=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002814637]	Chr2:210674911 [GRCh38] Chr2:211539635 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1708-16T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003067633]	Chr2:210602186 [GRCh38] Chr2:211466910 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.549T>G (p.Ile183Met)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002654359]	Chr2:210582637 [GRCh38] Chr2:211447361 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4162-3C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002943596]	Chr2:210675725 [GRCh38] Chr2:211540449 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2838A>T (p.Thr946=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003050985]	Chr2:210639158 [GRCh38] Chr2:211503882 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3335T>C (p.Leu1112Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003067094]	Chr2:210648056 [GRCh38] Chr2:211512780 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1846A>G (p.Met616Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002680688]	Chr2:210605111 [GRCh38] Chr2:211469835 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.513A>G (p.Lys171=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003052272]	Chr2:210579755 [GRCh38] Chr2:211444479 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3870G>A (p.Glu1290=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003069000]	Chr2:210660598 [GRCh38] Chr2:211525322 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2477del (p.Arg826fs)	deletion	Congenital hyperammonemia, type I [RCV002657851]	Chr2:210612202 [GRCh38] Chr2:211476926 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3285C>T (p.Val1095=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003051554]	Chr2:210648006 [GRCh38] Chr2:211512730 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2829+6G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002633538]\|Inborn genetic diseases [RCV002633539]	Chr2:210637849 [GRCh38] Chr2:211502573 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4405-10A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV002654585]	Chr2:210677877 [GRCh38] Chr2:211542601 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4441C>T (p.Arg1481Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003072545]	Chr2:210677923 [GRCh38] Chr2:211542647 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2391+12G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV002603810]	Chr2:210608571 [GRCh38] Chr2:211473295 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2453C>T (p.Pro818Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003070392]	Chr2:210612178 [GRCh38] Chr2:211476902 [GRCh37] Chr2:2q34	likely benign\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.3655G>A (p.Ala1219Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003071782]	Chr2:210656621 [GRCh38] Chr2:211521345 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.2028G>A (p.Glu676=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002586981]	Chr2:210606777 [GRCh38] Chr2:211471501 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2485A>G (p.Met829Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002654994]	Chr2:210612210 [GRCh38] Chr2:211476934 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3015A>G (p.Gln1005=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003070832]\|not provided [RCV004809890]	Chr2:210642539 [GRCh38] Chr2:211507263 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3927+5C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002587317]	Chr2:210660660 [GRCh38] Chr2:211525384 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4090A>G (p.Ile1364Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002588392]	Chr2:210668273 [GRCh38] Chr2:211532997 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3927+11C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV002588426]	Chr2:210660666 [GRCh38] Chr2:211525390 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1913G>A (p.Arg638Gln)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002585136]	Chr2:210605178 [GRCh38] Chr2:211469902 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3261G>A (p.Glu1087=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002589272]	Chr2:210647982 [GRCh38] Chr2:211512706 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1773A>G (p.Ala591=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV002585768]	Chr2:210602267 [GRCh38] Chr2:211466991 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4364C>T (p.Thr1455Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003072489]	Chr2:210677096 [GRCh38] Chr2:211541820 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3336+5G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV002612158]	Chr2:210648062 [GRCh38] Chr2:211512786 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.794C>T (p.Pro265Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003155635]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003466025]	Chr2:210590188 [GRCh38] Chr2:211454912 [GRCh37] Chr2:2q34	likely pathogenic\|conflicting interpretations of pathogenicity
NM_001875.5(CPS1):c.3927+4A>G	single nucleotide variant	not specified [RCV003155715]	Chr2:210660659 [GRCh38] Chr2:211525383 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1781G>T (p.Gly594Val)	single nucleotide variant	Neonatal encephalopathy [RCV003154299]	Chr2:210602275 [GRCh38] Chr2:211466999 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.828G>T (p.Gln276His)	single nucleotide variant	Inborn genetic diseases [RCV003277462]	Chr2:210590222 [GRCh38] Chr2:211454946 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3373C>A (p.Pro1125Thr)	single nucleotide variant	not provided [RCV003223071]	Chr2:210648509 [GRCh38] Chr2:211513233 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1142C>A (p.Thr381Asn)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003145875]	Chr2:210592934 [GRCh38] Chr2:211457658 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4414C>T (p.Leu1472Phe)	single nucleotide variant	Inborn genetic diseases [RCV003200309]	Chr2:210677896 [GRCh38] Chr2:211542620 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3812T>C (p.Leu1271Pro)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003145876]	Chr2:210660540 [GRCh38] Chr2:211525264 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2162G>A (p.Arg721Gln)	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003466043]\|not specified [RCV003226725]	Chr2:210606911 [GRCh38] Chr2:211471635 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.70A>G (p.Thr24Ala)	single nucleotide variant	Inborn genetic diseases [RCV003195439]	Chr2:210556803 [GRCh38] Chr2:211421527 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2022T>A (p.Asn674Lys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003145873]\|not specified [RCV005240709]	Chr2:210606771 [GRCh38] Chr2:211471495 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4162-2A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003143810]	Chr2:210675726 [GRCh38] Chr2:211540450 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4404+3A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003143804]	Chr2:210677139 [GRCh38] Chr2:211541863 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.1584A>T (p.Glu528Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003145871]	Chr2:210600589 [GRCh38] Chr2:211465313 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3742G>A (p.Gly1248Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003145874]	Chr2:210658674 [GRCh38] Chr2:211523398 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2391+2T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003141674]	Chr2:210608561 [GRCh38] Chr2:211473285 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2193-1G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003141665]	Chr2:210608360 [GRCh38] Chr2:211473084 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3069C>A (p.Asp1023Glu)	single nucleotide variant	not specified [RCV003324437]	Chr2:210642593 [GRCh38] Chr2:211507317 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1520G>T (p.Gly507Val)	single nucleotide variant	Inborn genetic diseases [RCV003265878]	Chr2:210599532 [GRCh38] Chr2:211464256 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2021A>T (p.Asn674Ile)	single nucleotide variant	not specified [RCV003324438]	Chr2:210606770 [GRCh38] Chr2:211471494 [GRCh37] Chr2:2q34	uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	copy number gain	See cases [RCV003329558]	Chr2:186698504..223918111 [GRCh37] Chr2:2q32.1-36.1	pathogenic
NM_001875.5(CPS1):c.3941C>T (p.Ser1314Phe)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003340868]	Chr2:210663136 [GRCh38] Chr2:211527860 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.236+4A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003335983]	Chr2:210573411 [GRCh38] Chr2:211438135 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3959A>T (p.Asp1320Val)	single nucleotide variant	not specified [RCV003331809]	Chr2:210663154 [GRCh38] Chr2:211527878 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3500C>A (p.Thr1167Lys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003333489]	Chr2:210654044 [GRCh38] Chr2:211518768 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2568+1G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498012]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003468516]	Chr2:210612294 [GRCh38] Chr2:211477018 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.711+1G>T	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003468517]	Chr2:210588148 [GRCh38] Chr2:211452872 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3481-2A>G	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003468520]	Chr2:210654023 [GRCh38] Chr2:211518747 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3775A>T (p.Arg1259Ter)	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003468522]	Chr2:210660503 [GRCh38] Chr2:211525227 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2876A>G (p.Tyr959Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005030054]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003468523]	Chr2:210639196 [GRCh38] Chr2:211503920 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3317G>A (p.Trp1106Ter)	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003468526]	Chr2:210648038 [GRCh38] Chr2:211512762 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4002+1G>T	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003468532]	Chr2:210663198 [GRCh38] Chr2:211527922 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1796dup (p.Cys600fs)	duplication	Pulmonary hypertension, neonatal, susceptibility to [RCV003468540]	Chr2:210602289..210602290 [GRCh38] Chr2:211467013..211467014 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4132G>A (p.Ala1378Thr)	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003468545]	Chr2:210674932 [GRCh38] Chr2:211539656 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2885_2889del (p.Tyr962fs)	deletion	Pulmonary hypertension, neonatal, susceptibility to [RCV003468531]	Chr2:210639204..210639208 [GRCh38] Chr2:211503928..211503932 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4081G>T (p.Gly1361Cys)	single nucleotide variant	Inborn genetic diseases [RCV003356230]	Chr2:210668264 [GRCh38] Chr2:211532988 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1263+14C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603898]	Chr2:210594620 [GRCh38] Chr2:211459344 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3667-12T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603933]	Chr2:210658587 [GRCh38] Chr2:211523311 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4002+19A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603937]	Chr2:210663216 [GRCh38] Chr2:211527940 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3276C>T (p.Phe1092=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603975]	Chr2:210647997 [GRCh38] Chr2:211512721 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.672C>T (p.Asp224=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604210]	Chr2:210588108 [GRCh38] Chr2:211452832 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.712-1G>T	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003468524]	Chr2:210590105 [GRCh38] Chr2:211454829 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3100G>T (p.Glu1034Ter)	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003468525]	Chr2:210642624 [GRCh38] Chr2:211507348 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1707+2T>G	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003468533]	Chr2:210600714 [GRCh38] Chr2:211465438 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.340G>T (p.Glu114Ter)	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003468537]	Chr2:210576449 [GRCh38] Chr2:211441173 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3404+1G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV005030055]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003468538]	Chr2:210648541 [GRCh38] Chr2:211513265 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.3666+1del	deletion	Pulmonary hypertension, neonatal, susceptibility to [RCV003468546]	Chr2:210656632 [GRCh38] Chr2:211521356 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1523T>C (p.Met508Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003455837]	Chr2:210599535 [GRCh38] Chr2:211464259 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3558+15C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604194]	Chr2:210654117 [GRCh38] Chr2:211518841 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.79del (p.Gln27fs)	deletion	Pulmonary hypertension, neonatal, susceptibility to [RCV003468519]	Chr2:210556811 [GRCh38] Chr2:211421535 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2830-2A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV004574048]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003468521]	Chr2:210639148 [GRCh38] Chr2:211503872 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.79C>T (p.Gln27Ter)	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003468541]	Chr2:210556812 [GRCh38] Chr2:211421536 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4274+12G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003873719]	Chr2:210675852 [GRCh38] Chr2:211540576 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1837-13C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003875166]	Chr2:210605089 [GRCh38] Chr2:211469813 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.381+14T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003873942]	Chr2:210576504 [GRCh38] Chr2:211441228 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.711+15C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003872937]	Chr2:210588162 [GRCh38] Chr2:211452886 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.481A>G (p.Ile161Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003873281]\|Inborn genetic diseases [RCV004981115]	Chr2:210579723 [GRCh38] Chr2:211444447 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.1981+12A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603713]	Chr2:210605258 [GRCh38] Chr2:211469982 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4102-14A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603750]	Chr2:210674888 [GRCh38] Chr2:211539612 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2274A>G (p.Thr758=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603757]	Chr2:210608442 [GRCh38] Chr2:211473166 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1550-4T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003872707]	Chr2:210600551 [GRCh38] Chr2:211465275 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.274C>T (p.Gln92Ter)	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003468534]	Chr2:210576383 [GRCh38] Chr2:211441107 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2688-1G>A	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003468551]	Chr2:210637701 [GRCh38] Chr2:211502425 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.214del (p.Val72fs)	deletion	Pulmonary hypertension, neonatal, susceptibility to [RCV003468552]	Chr2:210573384 [GRCh38] Chr2:211438108 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.711+1G>A	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003468527]	Chr2:210588148 [GRCh38] Chr2:211452872 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3336+2T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603171]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003468528]	Chr2:210648059 [GRCh38] Chr2:211512783 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.4326del (p.Asn1442fs)	deletion	Pulmonary hypertension, neonatal, susceptibility to [RCV003468539]	Chr2:210677058 [GRCh38] Chr2:211541782 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2959+14T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603564]	Chr2:210640073 [GRCh38] Chr2:211504797 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.471+10G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003826413]	Chr2:210577520 [GRCh38] Chr2:211442244 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3934A>C (p.Met1312Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003486049]	Chr2:210663129 [GRCh38] Chr2:211527853 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2170_2173delinsCCA (p.Ala724fs)	indel	Pulmonary hypertension, neonatal, susceptibility to [RCV003468549]	Chr2:210606919..210606922 [GRCh38] Chr2:211471643..211471646 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2420_2423dup (p.Ser808fs)	microsatellite	Pulmonary hypertension, neonatal, susceptibility to [RCV003468554]	Chr2:210612143..210612144 [GRCh38] Chr2:211476867..211476868 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1812_1813del (p.Glu604fs)	microsatellite	Pulmonary hypertension, neonatal, susceptibility to [RCV003468518]	Chr2:210602301..210602302 [GRCh38] Chr2:211467025..211467026 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.1962del (p.Asp654fs)	deletion	Pulmonary hypertension, neonatal, susceptibility to [RCV003468530]	Chr2:210605227 [GRCh38] Chr2:211469951 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1547del (p.Cys516fs)	deletion	Pulmonary hypertension, neonatal, susceptibility to [RCV003468535]	Chr2:210599559 [GRCh38] Chr2:211464283 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1344del (p.Ala448_Val449insTer)	deletion	Pulmonary hypertension, neonatal, susceptibility to [RCV003468536]	Chr2:210595567 [GRCh38] Chr2:211460291 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1123C>T (p.Gln375Ter)	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003468542]	Chr2:210592915 [GRCh38] Chr2:211457639 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.86G>A (p.Trp29Ter)	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003468543]	Chr2:210556819 [GRCh38] Chr2:211421543 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3276_3288del (p.Phe1092fs)	deletion	Congenital hyperammonemia, type I [RCV003603172]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003468544]	Chr2:210647997..210648009 [GRCh38] Chr2:211512721..211512733 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.1941_1944del (p.Cys648fs)	microsatellite	Congenital hyperammonemia, type I [RCV003603173]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003468547]	Chr2:210605202..210605205 [GRCh38] Chr2:211469926..211469929 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.3136C>T (p.Gln1046Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603174]\|Pulmonary hypertension, neonatal, susceptibility to [RCV003468548]	Chr2:210642660 [GRCh38] Chr2:211507384 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2392-1G>A	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV003468550]	Chr2:210612116 [GRCh38] Chr2:211476840 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1390_1397del (p.Pro464fs)	deletion	Pulmonary hypertension, neonatal, susceptibility to [RCV003468553]	Chr2:210599402..210599409 [GRCh38] Chr2:211464126..211464133 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.1431G>A (p.Lys477=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602562]	Chr2:210599443 [GRCh38] Chr2:211464167 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2895+16T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602824]	Chr2:210639231 [GRCh38] Chr2:211503955 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.948-6del	deletion	Congenital hyperammonemia, type I [RCV003605049]	Chr2:210591825 [GRCh38] Chr2:211456549 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1982-12T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003882641]	Chr2:210606719 [GRCh38] Chr2:211471443 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2687+16T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602662]	Chr2:210616557 [GRCh38] Chr2:211481281 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1165-6T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602691]	Chr2:210594502 [GRCh38] Chr2:211459226 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3771C>T (p.Asn1257=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602738]	Chr2:210660499 [GRCh38] Chr2:211525223 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3456A>G (p.Leu1152=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602981]	Chr2:210650414 [GRCh38] Chr2:211515138 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.127-17T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604064]	Chr2:210573281 [GRCh38] Chr2:211438005 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3337-17T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604084]	Chr2:210648456 [GRCh38] Chr2:211513180 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3337-14T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604135]	Chr2:210648459 [GRCh38] Chr2:211513183 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2392-20G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602716]	Chr2:210612097 [GRCh38] Chr2:211476821 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2391+12_2391+21del	deletion	Congenital hyperammonemia, type I [RCV003602832]	Chr2:210608570..210608579 [GRCh38] Chr2:211473294..211473303 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1272A>G (p.Lys424=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602833]	Chr2:210595495 [GRCh38] Chr2:211460219 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.381+14T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602834]	Chr2:210576504 [GRCh38] Chr2:211441228 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4003-2A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003825366]	Chr2:210668184 [GRCh38] Chr2:211532908 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3404+7C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604323]	Chr2:210648547 [GRCh38] Chr2:211513271 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4274+19G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604328]	Chr2:210675859 [GRCh38] Chr2:211540583 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1837-20C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602839]	Chr2:210605082 [GRCh38] Chr2:211469806 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3337-8T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602850]	Chr2:210648465 [GRCh38] Chr2:211513189 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3230G>A (p.Gly1077Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602804]	Chr2:210647951 [GRCh38] Chr2:211512675 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.126+17T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604516]	Chr2:210556876 [GRCh38] Chr2:211421600 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1140C>A (p.Val380=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603193]	Chr2:210592932 [GRCh38] Chr2:211457656 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3558+20C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604547]	Chr2:210654122 [GRCh38] Chr2:211518846 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4026T>C (p.Ile1342=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604433]	Chr2:210668209 [GRCh38] Chr2:211532933 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.236+18A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604603]	Chr2:210573425 [GRCh38] Chr2:211438149 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2691G>A (p.Glu897=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604635]	Chr2:210637705 [GRCh38] Chr2:211502429 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3408G>T (p.Gly1136=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602584]	Chr2:210650366 [GRCh38] Chr2:211515090 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3336+18T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602604]	Chr2:210648075 [GRCh38] Chr2:211512799 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3456A>C (p.Leu1152=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602863]	Chr2:210650414 [GRCh38] Chr2:211515138 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.528+17T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603010]	Chr2:210579787 [GRCh38] Chr2:211444511 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1165-13T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604693]	Chr2:210594495 [GRCh38] Chr2:211459219 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3843G>A (p.Lys1281=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602720]	Chr2:210660571 [GRCh38] Chr2:211525295 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2193-16T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603212]	Chr2:210608345 [GRCh38] Chr2:211473069 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2952T>C (p.Tyr984=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003830799]	Chr2:210640052 [GRCh38] Chr2:211504776 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4405-8A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602732]	Chr2:210677879 [GRCh38] Chr2:211542603 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3666+12T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602880]	Chr2:210656644 [GRCh38] Chr2:211521368 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.472-4A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602881]	Chr2:210579710 [GRCh38] Chr2:211444434 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1028A>G (p.Asn343Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603576]	Chr2:210591911 [GRCh38] Chr2:211456635 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.2687+20A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604834]	Chr2:210616561 [GRCh38] Chr2:211481285 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4162-19T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604855]	Chr2:210675709 [GRCh38] Chr2:211540433 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.382-11T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602707]	Chr2:210577410 [GRCh38] Chr2:211442134 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2607G>A (p.Lys869=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603036]	Chr2:210616461 [GRCh38] Chr2:211481185 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.948-9del	deletion	Congenital hyperammonemia, type I [RCV003603037]	Chr2:210591819 [GRCh38] Chr2:211456543 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.4476G>A (p.Arg1492=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003605021]	Chr2:210677958 [GRCh38] Chr2:211542682 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1707+20G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003605067]	Chr2:210600732 [GRCh38] Chr2:211465456 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3337-18G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602763]	Chr2:210648455 [GRCh38] Chr2:211513179 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.472-17C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602926]	Chr2:210579697 [GRCh38] Chr2:211444421 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3141+26del	deletion	Congenital hyperammonemia, type I [RCV003603240]	Chr2:210642684 [GRCh38] Chr2:211507408 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3438T>C (p.Asp1146=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003605028]	Chr2:210650396 [GRCh38] Chr2:211515120 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.127-16G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003605078]	Chr2:210573282 [GRCh38] Chr2:211438006 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2569-10C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602548]	Chr2:210616413 [GRCh38] Chr2:211481137 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3237C>T (p.Ser1079=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602698]	Chr2:210647958 [GRCh38] Chr2:211512682 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3142-17G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602783]	Chr2:210647846 [GRCh38] Chr2:211512570 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1837-9A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603246]	Chr2:210605093 [GRCh38] Chr2:211469817 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3481-11C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003828789]	Chr2:210654014 [GRCh38] Chr2:211518738 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2687+17C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602603]	Chr2:210616558 [GRCh38] Chr2:211481282 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1791A>G (p.Ser597=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602696]	Chr2:210602285 [GRCh38] Chr2:211467009 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1359+8A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602945]	Chr2:210595590 [GRCh38] Chr2:211460314 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3840C>T (p.Thr1280=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003831765]	Chr2:210660568 [GRCh38] Chr2:211525292 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2568+21del	deletion	Congenital hyperammonemia, type I [RCV003602800]	Chr2:210612312 [GRCh38] Chr2:211477036 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1550-15T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602803]	Chr2:210600540 [GRCh38] Chr2:211465264 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1837-14T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602912]	Chr2:210605088 [GRCh38] Chr2:211469812 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1026C>A (p.Asp342Glu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602949]	Chr2:210591909 [GRCh38] Chr2:211456633 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.840+12C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602950]	Chr2:210590246 [GRCh38] Chr2:211454970 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3480+15C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602953]	Chr2:210650453 [GRCh38] Chr2:211515177 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2687+7C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003877438]	Chr2:210616548 [GRCh38] Chr2:211481272 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2569-18C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602814]	Chr2:210616405 [GRCh38] Chr2:211481129 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3025A>C (p.Lys1009Gln)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602958]	Chr2:210642549 [GRCh38] Chr2:211507273 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2190T>C (p.Thr730=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003831405]	Chr2:210606939 [GRCh38] Chr2:211471663 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2830-20T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603841]	Chr2:210639130 [GRCh38] Chr2:211503854 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3405-13dup	duplication	Congenital hyperammonemia, type I [RCV003603912]	Chr2:210650346..210650347 [GRCh38] Chr2:211515070..211515071 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.4405-14C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003876768]	Chr2:210677873 [GRCh38] Chr2:211542597 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.906G>C (p.Leu302Phe)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603843]	Chr2:210590865 [GRCh38] Chr2:211455589 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2960-20C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603903]	Chr2:210642464 [GRCh38] Chr2:211507188 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1689A>C (p.Pro563=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603730]	Chr2:210600694 [GRCh38] Chr2:211465418 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2391+11G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603915]	Chr2:210608570 [GRCh38] Chr2:211473294 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2960-13A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604706]	Chr2:210642471 [GRCh38] Chr2:211507195 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1412C>A (p.Thr471Asn)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003486524]	Chr2:210599424 [GRCh38] Chr2:211464148 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1660C>T (p.Leu554=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603776]	Chr2:210600665 [GRCh38] Chr2:211465389 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3336+18T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603943]	Chr2:210648075 [GRCh38] Chr2:211512799 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3543T>C (p.Val1181=)	single nucleotide variant	CPS1-related disorder [RCV003966662]\|Congenital hyperammonemia, type I [RCV003603970]	Chr2:210654087 [GRCh38] Chr2:211518811 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1263+13del	deletion	Congenital hyperammonemia, type I [RCV003603981]	Chr2:210594617 [GRCh38] Chr2:211459341 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4422T>C (p.Ala1474=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603870]	Chr2:210677904 [GRCh38] Chr2:211542628 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3141+15_3141+16insG	insertion	Congenital hyperammonemia, type I [RCV003604824]	Chr2:210642680..210642681 [GRCh38] Chr2:211507404..211507405 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2118C>T (p.Thr706=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604020]	Chr2:210606867 [GRCh38] Chr2:211471591 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2895+20C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604040]	Chr2:210639235 [GRCh38] Chr2:211503959 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1549+11A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604871]	Chr2:210599572 [GRCh38] Chr2:211464296 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2013A>G (p.Thr671=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604114]	Chr2:210606762 [GRCh38] Chr2:211471486 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1683T>C (p.Ile561=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604138]	Chr2:210600688 [GRCh38] Chr2:211465412 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.45G>A (p.Lys15=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604162]	Chr2:210556778 [GRCh38] Chr2:211421502 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.952C>T (p.Gln318Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604183]	Chr2:210591835 [GRCh38] Chr2:211456559 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.712-16del	deletion	Congenital hyperammonemia, type I [RCV003604986]	Chr2:210590089 [GRCh38] Chr2:211454813 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.914G>T (p.Gly305Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604291]	Chr2:210590873 [GRCh38] Chr2:211455597 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.948-18_948-17del	deletion	Congenital hyperammonemia, type I [RCV003604387]	Chr2:210591810..210591811 [GRCh38] Chr2:211456534..211456535 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2687+11G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604481]	Chr2:210616552 [GRCh38] Chr2:211481276 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1264-1G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604485]	Chr2:210595486 [GRCh38] Chr2:211460210 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1881A>G (p.Thr627=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603651]	Chr2:210605146 [GRCh38] Chr2:211469870 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.237-12A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603655]	Chr2:210576334 [GRCh38] Chr2:211441058 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.378C>A (p.Ile126=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604432]	Chr2:210576487 [GRCh38] Chr2:211441211 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2908A>G (p.Asn970Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003876054]	Chr2:210640008 [GRCh38] Chr2:211504732 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4389C>T (p.Leu1463=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003878201]	Chr2:210677121 [GRCh38] Chr2:211541845 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2262A>G (p.Val754=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603734]	Chr2:210608430 [GRCh38] Chr2:211473154 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1550-12G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603674]	Chr2:210600543 [GRCh38] Chr2:211465267 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2829+14C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602599]	Chr2:210637857 [GRCh38] Chr2:211502581 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3337-9A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602610]	Chr2:210648464 [GRCh38] Chr2:211513188 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3207C>T (p.Tyr1069=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604333]	Chr2:210647928 [GRCh38] Chr2:211512652 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3757-19T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003830138]	Chr2:210660466 [GRCh38] Chr2:211525190 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3927+20A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602614]	Chr2:210660675 [GRCh38] Chr2:211525399 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.567T>A (p.Pro189=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602629]	Chr2:210582655 [GRCh38] Chr2:211447379 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2820G>A (p.Trp940Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602633]	Chr2:210637834 [GRCh38] Chr2:211502558 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3927+19T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604392]	Chr2:210660674 [GRCh38] Chr2:211525398 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4002+11A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604400]	Chr2:210663208 [GRCh38] Chr2:211527932 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1982-19G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604462]	Chr2:210606712 [GRCh38] Chr2:211471436 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2687+10T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604477]	Chr2:210616551 [GRCh38] Chr2:211481275 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.864G>A (p.Glu288=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003877922]	Chr2:210590823 [GRCh38] Chr2:211455547 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2569-20A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602638]	Chr2:210616403 [GRCh38] Chr2:211481127 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4428T>G (p.Ala1476=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602646]	Chr2:210677910 [GRCh38] Chr2:211542634 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4275-16T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604673]	Chr2:210676991 [GRCh38] Chr2:211541715 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.243A>C (p.Pro81=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604716]	Chr2:210576352 [GRCh38] Chr2:211441076 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1264-15T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604847]	Chr2:210595472 [GRCh38] Chr2:211460196 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.958C>T (p.Gln320Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604848]	Chr2:210591841 [GRCh38] Chr2:211456565 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3559-16T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003876621]	Chr2:210656509 [GRCh38] Chr2:211521233 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.711+18T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003878950]	Chr2:210588165 [GRCh38] Chr2:211452889 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3405-13C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003879502]	Chr2:210650350 [GRCh38] Chr2:211515074 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2895+20C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003605066]	Chr2:210639235 [GRCh38] Chr2:211503959 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1360-16C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003876703]	Chr2:210599356 [GRCh38] Chr2:211464080 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3336+13A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003605095]	Chr2:210648070 [GRCh38] Chr2:211512794 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2596G>A (p.Glu866Lys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603792]	Chr2:210616450 [GRCh38] Chr2:211481174 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4275-5del	deletion	Congenital hyperammonemia, type I [RCV003603799]	Chr2:210676998 [GRCh38] Chr2:211541722 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3381G>A (p.Leu1127=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003878225]	Chr2:210648517 [GRCh38] Chr2:211513241 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1937C>G (p.Thr646Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603895]	Chr2:210605202 [GRCh38] Chr2:211469926 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1264-4A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603990]	Chr2:210595483 [GRCh38] Chr2:211460207 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.712-18C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003829635]	Chr2:210590088 [GRCh38] Chr2:211454812 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.654A>G (p.Thr218=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604170]	Chr2:210588090 [GRCh38] Chr2:211452814 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1383G>A (p.Leu461=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602577]	Chr2:210599395 [GRCh38] Chr2:211464119 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1164+16G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602579]	Chr2:210592972 [GRCh38] Chr2:211457696 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2553C>A (p.Ile851=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604198]	Chr2:210612278 [GRCh38] Chr2:211477002 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1086+17A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003602595]	Chr2:210591986 [GRCh38] Chr2:211456710 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3558+18A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604422]	Chr2:210654120 [GRCh38] Chr2:211518844 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3951G>T (p.Arg1317=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604982]	Chr2:210663146 [GRCh38] Chr2:211527870 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4140_4143dup (p.His1382fs)	duplication	Congenital hyperammonemia, type I [RCV003603682]	Chr2:210674938..210674939 [GRCh38] Chr2:211539662..211539663 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3404+18T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603804]	Chr2:210648558 [GRCh38] Chr2:211513282 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1086+19C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604500]	Chr2:210591988 [GRCh38] Chr2:211456712 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.681del (p.Asn229fs)	deletion	Congenital hyperammonemia, type I [RCV003604505]	Chr2:210588116 [GRCh38] Chr2:211452840 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.4442G>C (p.Arg1481Pro)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603718]	Chr2:210677924 [GRCh38] Chr2:211542648 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1707+11T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604524]	Chr2:210600723 [GRCh38] Chr2:211465447 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1440T>C (p.Asp480=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604527]	Chr2:210599452 [GRCh38] Chr2:211464176 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.472-19T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604529]	Chr2:210579695 [GRCh38] Chr2:211444419 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3927+18T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604533]	Chr2:210660673 [GRCh38] Chr2:211525397 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3910_3913del (p.Asp1304fs)	deletion	Congenital hyperammonemia, type I [RCV003827617]	Chr2:210660636..210660639 [GRCh38] Chr2:211525360..211525363 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2532T>G (p.Ser844=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003878480]	Chr2:210612257 [GRCh38] Chr2:211476981 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4368T>G (p.Ala1456=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003879172]	Chr2:210677100 [GRCh38] Chr2:211541824 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.762G>A (p.Met254Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604541]	Chr2:210590156 [GRCh38] Chr2:211454880 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.528+12A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604553]	Chr2:210579782 [GRCh38] Chr2:211444506 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3622C>A (p.Leu1208Met)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604558]	Chr2:210656588 [GRCh38] Chr2:211521312 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1087-16T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003825458]	Chr2:210592863 [GRCh38] Chr2:211457587 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2640G>A (p.Lys880=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603916]	Chr2:210616494 [GRCh38] Chr2:211481218 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.621+7G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603922]	Chr2:210582716 [GRCh38] Chr2:211447440 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2192+9A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604435]	Chr2:210606950 [GRCh38] Chr2:211471674 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2736C>T (p.Phe912=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003605079]	Chr2:210637750 [GRCh38] Chr2:211502474 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.654A>T (p.Thr218=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003605091]	Chr2:210588090 [GRCh38] Chr2:211452814 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1087-12T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003605093]	Chr2:210592867 [GRCh38] Chr2:211457591 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2375T>C (p.Met792Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603963]	Chr2:210608543 [GRCh38] Chr2:211473267 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4404+11T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003826675]	Chr2:210677147 [GRCh38] Chr2:211541871 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1981+20G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603979]	Chr2:210605266 [GRCh38] Chr2:211469990 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1295G>A (p.Gly432Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003877746]	Chr2:210595518 [GRCh38] Chr2:211460242 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2205A>T (p.Ala735=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604126]	Chr2:210608373 [GRCh38] Chr2:211473097 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1962T>C (p.Asp654=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603938]	Chr2:210605227 [GRCh38] Chr2:211469951 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.472-16A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604000]	Chr2:210579698 [GRCh38] Chr2:211444422 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1044C>T (p.Gly348=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604019]	Chr2:210591927 [GRCh38] Chr2:211456651 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1550-12G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604033]	Chr2:210600543 [GRCh38] Chr2:211465267 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.819A>C (p.Pro273=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604182]	Chr2:210590213 [GRCh38] Chr2:211454937 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2208C>T (p.Phe736=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604051]	Chr2:210608376 [GRCh38] Chr2:211473100 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1737C>A (p.Thr579=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604708]	Chr2:210602231 [GRCh38] Chr2:211466955 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.138A>G (p.Ala46=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604259]	Chr2:210573309 [GRCh38] Chr2:211438033 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2569-7T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604752]	Chr2:210616416 [GRCh38] Chr2:211481140 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2784A>G (p.Thr928=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604300]	Chr2:210637798 [GRCh38] Chr2:211502522 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4161+18A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604781]	Chr2:210674979 [GRCh38] Chr2:211539703 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4275-7T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604798]	Chr2:210677000 [GRCh38] Chr2:211541724 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1165-13T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604801]	Chr2:210594495 [GRCh38] Chr2:211459219 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2959+6del	deletion	Congenital hyperammonemia, type I [RCV003604330]	Chr2:210640062 [GRCh38] Chr2:211504786 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3393C>T (p.Ser1131=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604355]	Chr2:210648529 [GRCh38] Chr2:211513253 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.144T>C (p.Ile48=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604357]	Chr2:210573315 [GRCh38] Chr2:211438039 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.297T>G (p.Pro99=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604361]	Chr2:210576406 [GRCh38] Chr2:211441130 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3279A>T (p.Ser1093=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603577]	Chr2:210648000 [GRCh38] Chr2:211512724 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4470C>T (p.His1490=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603619]	Chr2:210677952 [GRCh38] Chr2:211542676 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.948-7T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604938]	Chr2:210591824 [GRCh38] Chr2:211456548 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4101+1G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003604940]	Chr2:210668285 [GRCh38] Chr2:211533009 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.1110C>T (p.Pro370=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603654]	Chr2:210592902 [GRCh38] Chr2:211457626 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2688-11T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003877599]	Chr2:210637691 [GRCh38] Chr2:211502415 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.948-4C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003605050]	Chr2:210591827 [GRCh38] Chr2:211456551 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.948-14C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603716]	Chr2:210591817 [GRCh38] Chr2:211456541 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3266G>C (p.Arg1089Pro)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603490]	Chr2:210647987 [GRCh38] Chr2:211512711 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.841-13C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498902]	Chr2:210590787 [GRCh38] Chr2:211455511 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3928-16T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498905]	Chr2:210663107 [GRCh38] Chr2:211527831 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1708-7T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498185]	Chr2:210602195 [GRCh38] Chr2:211466919 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1197del (p.Gly401fs)	deletion	Congenital hyperammonemia, type I [RCV003498218]	Chr2:210594540 [GRCh38] Chr2:211459264 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.700C>T (p.Leu234=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499150]	Chr2:210588136 [GRCh38] Chr2:211452860 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3882A>G (p.Pro1294=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499228]	Chr2:210660610 [GRCh38] Chr2:211525334 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3666+2del	deletion	Congenital hyperammonemia, type I [RCV003497392]	Chr2:210656634 [GRCh38] Chr2:211521358 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2499G>A (p.Trp833Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497468]\|Pulmonary hypertension, neonatal, susceptibility to [RCV004574115]	Chr2:210612224 [GRCh38] Chr2:211476948 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.126+16A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497609]	Chr2:210556875 [GRCh38] Chr2:211421599 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3405-17T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497569]	Chr2:210650346 [GRCh38] Chr2:211515070 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3142-19T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497685]	Chr2:210647844 [GRCh38] Chr2:211512568 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3304dup (p.Ala1102fs)	duplication	Congenital hyperammonemia, type I [RCV003497645]	Chr2:210648023..210648024 [GRCh38] Chr2:211512747..211512748 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3695del (p.Lys1232fs)	deletion	Congenital hyperammonemia, type I [RCV003498266]	Chr2:210658625 [GRCh38] Chr2:211523349 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3927+11C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497786]	Chr2:210660666 [GRCh38] Chr2:211525390 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2016C>G (p.Leu672=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497798]	Chr2:210606765 [GRCh38] Chr2:211471489 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.27A>G (p.Lys9=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603307]	Chr2:210556760 [GRCh38] Chr2:211421484 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2808C>T (p.Asn936=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603296]	Chr2:210637822 [GRCh38] Chr2:211502546 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2829+15C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603347]	Chr2:210637858 [GRCh38] Chr2:211502582 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.126+12A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603271]	Chr2:210556871 [GRCh38] Chr2:211421595 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3757-17G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603303]	Chr2:210660468 [GRCh38] Chr2:211525192 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3382T>C (p.Leu1128=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603309]	Chr2:210648518 [GRCh38] Chr2:211513242 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.465A>G (p.Glu155=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003850434]	Chr2:210577504 [GRCh38] Chr2:211442228 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3336+16A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603421]	Chr2:210648073 [GRCh38] Chr2:211512797 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.841-18A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603383]	Chr2:210590782 [GRCh38] Chr2:211455506 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2392-11A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603390]	Chr2:210612106 [GRCh38] Chr2:211476830 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1587T>C (p.Tyr529=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603408]	Chr2:210600592 [GRCh38] Chr2:211465316 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2392-17T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603442]	Chr2:210612100 [GRCh38] Chr2:211476824 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2193-18T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603448]	Chr2:210608343 [GRCh38] Chr2:211473067 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4392C>T (p.Leu1464=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603481]	Chr2:210677124 [GRCh38] Chr2:211541848 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2895+11G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603450]	Chr2:210639226 [GRCh38] Chr2:211503950 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2040G>A (p.Leu680=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603475]	Chr2:210606789 [GRCh38] Chr2:211471513 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.621+13C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603480]	Chr2:210582722 [GRCh38] Chr2:211447446 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1550-5T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603540]	Chr2:210600550 [GRCh38] Chr2:211465274 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3928-20del	deletion	Congenital hyperammonemia, type I [RCV003603518]	Chr2:210663103 [GRCh38] Chr2:211527827 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.712-8T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498987]	Chr2:210590098 [GRCh38] Chr2:211454822 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2170_2172del (p.Ala724del)	deletion	Congenital hyperammonemia, type I [RCV005054026]	Chr2:210606917..210606919 [GRCh38] Chr2:211471641..211471643 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.4246C>T (p.Gln1416Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499136]	Chr2:210675812 [GRCh38] Chr2:211540536 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.982A>T (p.Lys328Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498378]	Chr2:210591865 [GRCh38] Chr2:211456589 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3481-12C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498402]	Chr2:210654013 [GRCh38] Chr2:211518737 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4088dup (p.Ile1364fs)	duplication	Congenital hyperammonemia, type I [RCV003499192]	Chr2:210668270..210668271 [GRCh38] Chr2:211532994..211532995 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2747del (p.Gln916fs)	deletion	Congenital hyperammonemia, type I [RCV003499202]	Chr2:210637761 [GRCh38] Chr2:211502485 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.948-16C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498445]	Chr2:210591815 [GRCh38] Chr2:211456539 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2920del (p.His974fs)	deletion	Congenital hyperammonemia, type I [RCV003498448]\|Congenital hyperammonemia, type I [RCV005030131]	Chr2:210640019 [GRCh38] Chr2:211504743 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.471+18G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498498]	Chr2:210577528 [GRCh38] Chr2:211442252 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.528+11C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498891]	Chr2:210579781 [GRCh38] Chr2:211444505 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2193-13C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497448]	Chr2:210608348 [GRCh38] Chr2:211473072 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1981+14C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497559]	Chr2:210605260 [GRCh38] Chr2:211469984 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4162-20T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497583]	Chr2:210675708 [GRCh38] Chr2:211540432 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1530C>A (p.Gly510=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497734]	Chr2:210599542 [GRCh38] Chr2:211464266 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4161+13_4161+17del	deletion	Congenital hyperammonemia, type I [RCV003498594]	Chr2:210674974..210674978 [GRCh38] Chr2:211539698..211539702 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2391+12G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498595]	Chr2:210608571 [GRCh38] Chr2:211473295 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2829+8A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499010]	Chr2:210637851 [GRCh38] Chr2:211502575 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1551A>C (p.Gly517=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498879]	Chr2:210600556 [GRCh38] Chr2:211465280 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2192+11A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497771]	Chr2:210606952 [GRCh38] Chr2:211471676 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1982-16C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003813763]	Chr2:210606715 [GRCh38] Chr2:211471439 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.841-9C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498015]	Chr2:210590791 [GRCh38] Chr2:211455515 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2520A>G (p.Arg840=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498032]	Chr2:210612245 [GRCh38] Chr2:211476969 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1992T>G (p.Val664=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498051]	Chr2:210606741 [GRCh38] Chr2:211471465 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3753C>G (p.Val1251=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498066]	Chr2:210658685 [GRCh38] Chr2:211523409 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1722G>A (p.Leu574=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498074]	Chr2:210602216 [GRCh38] Chr2:211466940 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2193-17T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498751]	Chr2:210608344 [GRCh38] Chr2:211473068 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3330T>C (p.Asn1110=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498759]	Chr2:210648051 [GRCh38] Chr2:211512775 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2109T>G (p.Leu703=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498700]	Chr2:210606858 [GRCh38] Chr2:211471582 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3756+13A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003851163]	Chr2:210658701 [GRCh38] Chr2:211523425 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.126+7C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499266]	Chr2:210556866 [GRCh38] Chr2:211421590 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1990G>T (p.Val664Phe)	single nucleotide variant	not provided [RCV004588683]	Chr2:210606739 [GRCh38] Chr2:211471463 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3559-17T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499690]	Chr2:210656508 [GRCh38] Chr2:211521232 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4003-16A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499794]	Chr2:210668170 [GRCh38] Chr2:211532894 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2687+19C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499867]	Chr2:210616560 [GRCh38] Chr2:211481284 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2193-14T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003831952]	Chr2:210608347 [GRCh38] Chr2:211473071 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1165-18G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603345]	Chr2:210594490 [GRCh38] Chr2:211459214 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.126+10A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499963]	Chr2:210556869 [GRCh38] Chr2:211421593 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4161+20G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603373]	Chr2:210674981 [GRCh38] Chr2:211539705 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3792C>T (p.Phe1264=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603283]	Chr2:210660520 [GRCh38] Chr2:211525244 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3804C>T (p.Ser1268=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603432]	Chr2:210660532 [GRCh38] Chr2:211525256 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1359+9A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003811875]	Chr2:210595591 [GRCh38] Chr2:211460315 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2391+11G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003817593]	Chr2:210608570 [GRCh38] Chr2:211473294 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2959+19T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603509]	Chr2:210640078 [GRCh38] Chr2:211504802 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2463A>G (p.Glu821=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498157]	Chr2:210612188 [GRCh38] Chr2:211476912 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2896-12T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603541]	Chr2:210639984 [GRCh38] Chr2:211504708 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3558+17C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498452]	Chr2:210654119 [GRCh38] Chr2:211518843 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.678G>A (p.Gly226=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498479]	Chr2:210588114 [GRCh38] Chr2:211452838 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.621+17T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498645]	Chr2:210582726 [GRCh38] Chr2:211447450 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1647G>A (p.Leu549=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498757]	Chr2:210600652 [GRCh38] Chr2:211465376 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.711+16A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498766]	Chr2:210588163 [GRCh38] Chr2:211452887 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2830-14G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498687]	Chr2:210639136 [GRCh38] Chr2:211503860 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2556T>C (p.Tyr852=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003850789]	Chr2:210612281 [GRCh38] Chr2:211477005 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.459A>C (p.Leu153=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499183]	Chr2:210577498 [GRCh38] Chr2:211442222 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2877T>C (p.Tyr959=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003850819]	Chr2:210639197 [GRCh38] Chr2:211503921 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2960-9T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499438]	Chr2:210642475 [GRCh38] Chr2:211507199 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1086+14A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003838355]	Chr2:210591983 [GRCh38] Chr2:211456707 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3337-14T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603411]	Chr2:210648459 [GRCh38] Chr2:211513183 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1550-12G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603431]	Chr2:210600543 [GRCh38] Chr2:211465267 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2568+18G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498649]	Chr2:210612311 [GRCh38] Chr2:211477035 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1398T>C (p.Ile466=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499009]	Chr2:210599410 [GRCh38] Chr2:211464134 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.945C>T (p.Asn315=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003856570]	Chr2:210590904 [GRCh38] Chr2:211455628 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4274+14A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499882]	Chr2:210675854 [GRCh38] Chr2:211540578 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3399_3402del (p.Leu1134fs)	deletion	Congenital hyperammonemia, type I [RCV003498963]	Chr2:210648535..210648538 [GRCh38] Chr2:211513259..211513262 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2569-18C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499476]	Chr2:210616405 [GRCh38] Chr2:211481129 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3869del (p.Glu1290fs)	deletion	Congenital hyperammonemia, type I [RCV003499500]	Chr2:210660597 [GRCh38] Chr2:211525321 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2361A>G (p.Arg787=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499298]	Chr2:210608529 [GRCh38] Chr2:211473253 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4404+19A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499446]	Chr2:210677155 [GRCh38] Chr2:211541879 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3765G>A (p.Glu1255=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497433]	Chr2:210660493 [GRCh38] Chr2:211525217 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2896-9T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003814984]	Chr2:210639987 [GRCh38] Chr2:211504711 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1161T>A (p.Thr387=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499501]	Chr2:210592953 [GRCh38] Chr2:211457677 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2695A>G (p.Met899Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499555]	Chr2:210637709 [GRCh38] Chr2:211502433 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2391+17T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497582]	Chr2:210608576 [GRCh38] Chr2:211473300 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1899A>G (p.Glu633=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003812177]	Chr2:210605164 [GRCh38] Chr2:211469888 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.840+11C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497531]	Chr2:210590245 [GRCh38] Chr2:211454969 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4274+20T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497719]	Chr2:210675860 [GRCh38] Chr2:211540584 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4449G>A (p.Val1483=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003836615]	Chr2:210677931 [GRCh38] Chr2:211542655 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.726G>T (p.Val242=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499757]	Chr2:210590120 [GRCh38] Chr2:211454844 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3242T>C (p.Leu1081Pro)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498020]	Chr2:210647963 [GRCh38] Chr2:211512687 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1699G>C (p.Val567Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499982]	Chr2:210600704 [GRCh38] Chr2:211465428 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1836+11T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499888]	Chr2:210602341 [GRCh38] Chr2:211467065 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4275-13T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498244]	Chr2:210676994 [GRCh38] Chr2:211541718 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.529-15T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499828]	Chr2:210582602 [GRCh38] Chr2:211447326 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3336+16A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498267]	Chr2:210648073 [GRCh38] Chr2:211512797 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.696C>A (p.Ile232=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498433]	Chr2:210588132 [GRCh38] Chr2:211452856 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.126+19G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003814407]	Chr2:210556878 [GRCh38] Chr2:211421602 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1360-11G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003855878]	Chr2:210599361 [GRCh38] Chr2:211464085 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1251A>G (p.Ala417=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498633]	Chr2:210594594 [GRCh38] Chr2:211459318 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1944dup (p.Asn649Ter)	duplication	Congenital hyperammonemia, type I [RCV003498775]	Chr2:210605208..210605209 [GRCh38] Chr2:211469932..211469933 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.4035C>T (p.Ala1345=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003816222]	Chr2:210668218 [GRCh38] Chr2:211532942 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.237-14G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003816628]	Chr2:210576332 [GRCh38] Chr2:211441056 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2192+7C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499234]	Chr2:210606948 [GRCh38] Chr2:211471672 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3810T>C (p.Thr1270=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498057]	Chr2:210660538 [GRCh38] Chr2:211525262 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.529-11dup	duplication	Congenital hyperammonemia, type I [RCV003839797]	Chr2:210582599..210582600 [GRCh38] Chr2:211447323..211447324 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.1359+17C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499855]	Chr2:210595599 [GRCh38] Chr2:211460323 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1164+1G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499917]	Chr2:210592957 [GRCh38] Chr2:211457681 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1759C>T (p.Arg587Cys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499918]\|Congenital hyperammonemia, type I [RCV005030111]	Chr2:210602253 [GRCh38] Chr2:211466977 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.1086+18A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603342]	Chr2:210591987 [GRCh38] Chr2:211456711 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3667-12T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497574]	Chr2:210658587 [GRCh38] Chr2:211523311 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4371T>A (p.Val1457=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497649]	Chr2:210677103 [GRCh38] Chr2:211541827 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2391+18T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603375]	Chr2:210608577 [GRCh38] Chr2:211473301 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.381+16G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603395]	Chr2:210576506 [GRCh38] Chr2:211441230 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2392-19T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003811944]	Chr2:210612098 [GRCh38] Chr2:211476822 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3480+18T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497461]	Chr2:210650456 [GRCh38] Chr2:211515180 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2835T>C (p.Asp945=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497467]	Chr2:210639155 [GRCh38] Chr2:211503879 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.174T>C (p.Gly58=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003497681]	Chr2:210573345 [GRCh38] Chr2:211438069 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1360-17T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498214]	Chr2:210599355 [GRCh38] Chr2:211464079 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1982-18T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498235]	Chr2:210606713 [GRCh38] Chr2:211471437 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3405-4C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498319]	Chr2:210650359 [GRCh38] Chr2:211515083 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4162-16T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498417]	Chr2:210675712 [GRCh38] Chr2:211540436 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4248G>A (p.Gln1416=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498592]	Chr2:210675814 [GRCh38] Chr2:211540538 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4117A>C (p.Arg1373=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003851650]	Chr2:210674917 [GRCh38] Chr2:211539641 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.712-11C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499725]	Chr2:210590095 [GRCh38] Chr2:211454819 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.711+15C>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499742]	Chr2:210588162 [GRCh38] Chr2:211452886 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3651A>G (p.Gln1217=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498371]	Chr2:210656617 [GRCh38] Chr2:211521341 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1839C>T (p.Ala613=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498472]	Chr2:210605104 [GRCh38] Chr2:211469828 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3478C>T (p.Gln1160Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498802]	Chr2:210650436 [GRCh38] Chr2:211515160 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.1233G>T (p.Pro411=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003498829]	Chr2:210594576 [GRCh38] Chr2:211459300 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4413A>G (p.Lys1471=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499235]	Chr2:210677895 [GRCh38] Chr2:211542619 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1376del (p.Thr459fs)	deletion	Congenital hyperammonemia, type I [RCV003499240]	Chr2:210599388 [GRCh38] Chr2:211464112 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.1164+9A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603393]	Chr2:210592965 [GRCh38] Chr2:211457689 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1360-8T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603403]	Chr2:210599364 [GRCh38] Chr2:211464088 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4102-11T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603464]	Chr2:210674891 [GRCh38] Chr2:211539615 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3918T>C (p.Val1306=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003810930]	Chr2:210660646 [GRCh38] Chr2:211525370 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3928-19T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV003603519]	Chr2:210663104 [GRCh38] Chr2:211527828 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.450G>T (p.Gly150=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499575]	Chr2:210577489 [GRCh38] Chr2:211442213 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1263+17A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499810]	Chr2:210594623 [GRCh38] Chr2:211459347 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2553C>G (p.Ile851Met)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003499858]\|Inborn genetic diseases [RCV004980878]	Chr2:210612278 [GRCh38] Chr2:211477002 [GRCh37] Chr2:2q34	likely benign\|uncertain significance
NM_001875.5(CPS1):c.3266G>A (p.Arg1089His)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003858359]	Chr2:210647987 [GRCh38] Chr2:211512711 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.18A>G (p.Thr6=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003819183]	Chr2:210556751 [GRCh38] Chr2:211421475 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3559-16T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003866689]	Chr2:210656509 [GRCh38] Chr2:211521233 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1809A>G (p.Arg603=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003860967]	Chr2:210602303 [GRCh38] Chr2:211467027 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4371T>C (p.Val1457=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003845799]	Chr2:210677103 [GRCh38] Chr2:211541827 [GRCh37] Chr2:2q34	likely benign
GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	copy number loss	not specified [RCV003986210]	Chr2:204110688..211638554 [GRCh37] Chr2:2q33.2-34	pathogenic
NM_001875.5(CPS1):c.1264-19T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003870762]	Chr2:210595468 [GRCh38] Chr2:211460192 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1550-16T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003871392]	Chr2:210600539 [GRCh38] Chr2:211465263 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.952C>A (p.Gln318Lys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003871659]	Chr2:210591835 [GRCh38] Chr2:211456559 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4056C>T (p.Ser1352=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003866558]	Chr2:210668239 [GRCh38] Chr2:211532963 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2391+10del	deletion	Congenital hyperammonemia, type I [RCV003871870]	Chr2:210608568 [GRCh38] Chr2:211473292 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.17C>T (p.Thr6Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003871874]	Chr2:210556750 [GRCh38] Chr2:211421474 [GRCh37] Chr2:2q34	likely benign
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	copy number loss	not specified [RCV003986323]	Chr2:194305623..215261531 [GRCh37] Chr2:2q32.3-34	pathogenic
NM_001875.5(CPS1):c.2625G>A (p.Lys875=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003863343]	Chr2:210616479 [GRCh38] Chr2:211481203 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.261T>A (p.Pro87=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003853540]	Chr2:210576370 [GRCh38] Chr2:211441094 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1550-20C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV003865960]	Chr2:210600535 [GRCh38] Chr2:211465259 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.264C>T (p.Ala88=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003861990]	Chr2:210576373 [GRCh38] Chr2:211441097 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2720del (p.Ala907fs)	deletion	Congenital hyperammonemia, type I [RCV003870827]\|Pulmonary hypertension, neonatal, susceptibility to [RCV004573377]	Chr2:210637734 [GRCh38] Chr2:211502458 [GRCh37] Chr2:2q34	pathogenic\|likely pathogenic
NM_001875.5(CPS1):c.3757-13T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003864569]	Chr2:210660472 [GRCh38] Chr2:211525196 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4254C>T (p.Pro1418=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003823237]	Chr2:210675820 [GRCh38] Chr2:211540544 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2526G>A (p.Glu842=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003844590]	Chr2:210612251 [GRCh38] Chr2:211476975 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.981C>T (p.Asn327=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003818393]	Chr2:210591864 [GRCh38] Chr2:211456588 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3714T>C (p.Gly1238=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003821132]	Chr2:210658646 [GRCh38] Chr2:211523370 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.529-20T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV003818842]	Chr2:210582597 [GRCh38] Chr2:211447321 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1550-1G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV003989169]	Chr2:210600554 [GRCh38] Chr2:211465278 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1708A>G (p.Ile570Val)	single nucleotide variant	Inborn genetic diseases [RCV004374620]	Chr2:210602202 [GRCh38] Chr2:211466926 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1916A>T (p.Asp639Val)	single nucleotide variant	Inborn genetic diseases [RCV004374621]	Chr2:210605181 [GRCh38] Chr2:211469905 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4273A>C (p.Lys1425Gln)	single nucleotide variant	Inborn genetic diseases [RCV004374627]	Chr2:210675839 [GRCh38] Chr2:211540563 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.593A>G (p.Gln198Arg)	single nucleotide variant	Inborn genetic diseases [RCV004374628]	Chr2:210582681 [GRCh38] Chr2:211447405 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2730T>C (p.Ile910=)	single nucleotide variant	CPS1-related disorder [RCV003903982]	Chr2:210637744 [GRCh38] Chr2:211502468 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2512G>C (p.Asp838His)	single nucleotide variant	Inborn genetic diseases [RCV004374622]	Chr2:210612237 [GRCh38] Chr2:211476961 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3541G>A (p.Val1181Ile)	single nucleotide variant	Inborn genetic diseases [RCV004374626]	Chr2:210654085 [GRCh38] Chr2:211518809 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1706C>G (p.Ser569Trp)	single nucleotide variant	Inborn genetic diseases [RCV004374619]	Chr2:210600711 [GRCh38] Chr2:211465435 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3210G>C (p.Lys1070Asn)	single nucleotide variant	Inborn genetic diseases [RCV004374624]	Chr2:210647931 [GRCh38] Chr2:211512655 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.346G>A (p.Gly116Arg)	single nucleotide variant	Inborn genetic diseases [RCV004374625]	Chr2:210576455 [GRCh38] Chr2:211441179 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.455G>C (p.Trp152Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003990557]	Chr2:210577494 [GRCh38] Chr2:211442218 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3374C>T (p.Pro1125Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV003990641]	Chr2:210648510 [GRCh38] Chr2:211513234 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2600T>C (p.Ile867Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV004560484]	Chr2:210616454 [GRCh38] Chr2:211481178 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.296C>T (p.Pro99Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV004560524]\|Pulmonary hypertension, neonatal, susceptibility to [RCV004573490]\|not specified [RCV005407319]	Chr2:210576405 [GRCh38] Chr2:211441129 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NM_001875.5(CPS1):c.3404G>C (p.Ser1135Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV004577419]	Chr2:210648540 [GRCh38] Chr2:211513264 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.547del (p.Ile183fs)	deletion	Congenital hyperammonemia, type I [RCV004596673]	Chr2:210582635 [GRCh38] Chr2:211447359 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2830A>T (p.Ile944Phe)	single nucleotide variant	Inborn genetic diseases [RCV004611093]	Chr2:210639150 [GRCh38] Chr2:211503874 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1669A>T (p.Ile557Phe)	single nucleotide variant	Inborn genetic diseases [RCV004611094]	Chr2:210600674 [GRCh38] Chr2:211465398 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2752T>C (p.Ser918Pro)	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV004575677]	Chr2:210637766 [GRCh38] Chr2:211502490 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4404+1G>A	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV004575678]	Chr2:210677137 [GRCh38] Chr2:211541861 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.2950T>C (p.Tyr984His)	single nucleotide variant	not specified [RCV004690781]	Chr2:210640050 [GRCh38] Chr2:211504774 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1359+1G>A	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV004575679]	Chr2:210595583 [GRCh38] Chr2:211460307 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.656_657del (p.Lys219fs)	deletion	Pulmonary hypertension, neonatal, susceptibility to [RCV004575680]	Chr2:210588090..210588091 [GRCh38] Chr2:211452814..211452815 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3367del (p.Asp1123fs)	deletion	Pulmonary hypertension, neonatal, susceptibility to [RCV004575681]	Chr2:210648502 [GRCh38] Chr2:211513226 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3481-1G>C	single nucleotide variant	Pulmonary hypertension, neonatal, susceptibility to [RCV004575682]	Chr2:210654024 [GRCh38] Chr2:211518748 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1974del (p.His659fs)	deletion	Pulmonary hypertension, neonatal, susceptibility to [RCV004575683]	Chr2:210605238 [GRCh38] Chr2:211469962 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.4003G>A (p.Val1335Met)	single nucleotide variant	Congenital hyperammonemia, type I [RCV004698753]	Chr2:210668186 [GRCh38] Chr2:211532910 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1799G>A (p.Cys600Tyr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005023640]\|not specified [RCV004689504]	Chr2:210602293 [GRCh38] Chr2:211467017 [GRCh37] Chr2:2q34	likely pathogenic\|uncertain significance
NC_000002.11:g.(?_211421458)_(211542709_?)del	deletion	Congenital hyperammonemia, type I [RCV004583704]	Chr2:211421458..211542709 [GRCh37] Chr2:2q34	pathogenic
NC_000002.11:g.(?_211421458)_(211421603_?)del	deletion	Congenital hyperammonemia, type I [RCV004583705]	Chr2:211421458..211421603 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.1760G>T (p.Arg587Leu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV004690880]\|Congenital hyperammonemia, type I [RCV005023635]	Chr2:210602254 [GRCh38] Chr2:211466978 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3928-4A>G	single nucleotide variant	not provided [RCV004575336]	Chr2:210663119 [GRCh38] Chr2:211527843 [GRCh37] Chr2:2q34	likely pathogenic
NC_000002.11:g.(?_211457583)_(211457700_?)del	deletion	Congenital hyperammonemia, type I [RCV004583706]	Chr2:211457583..211457700 [GRCh37] Chr2:2q34	pathogenic
NC_000002.11:g.(?_211504700)_(211504803_?)del	deletion	Congenital hyperammonemia, type I [RCV004583707]	Chr2:211504700..211504803 [GRCh37] Chr2:2q34	pathogenic
NC_000002.11:g.(?_211452758)_(211452891_?)del	deletion	Congenital hyperammonemia, type I [RCV004583708]	Chr2:211452758..211452891 [GRCh37] Chr2:2q34	pathogenic
NC_000002.11:g.(?_211444418)_(211464305_?)del	deletion	Congenital hyperammonemia, type I [RCV004583709]	Chr2:211444418..211464305 [GRCh37] Chr2:2q34	pathogenic
NC_000002.11:g.(?_211502406)_(211503959_?)dup	duplication	Congenital hyperammonemia, type I [RCV004583710]	Chr2:211502406..211503959 [GRCh37] Chr2:2q34	likely pathogenic
GRCh37/hg19 2q34(chr2:211421441-211473283)x1	copy number loss	not provided [RCV004576114]	Chr2:211421441..211473283 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3761T>C (p.Ile1254Thr)	single nucleotide variant	not specified [RCV004702977]	Chr2:210660489 [GRCh38] Chr2:211525213 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.293A>G (p.Asn98Ser)	single nucleotide variant	CPS1-related disorder [RCV004731333]	Chr2:210576402 [GRCh38] Chr2:211441126 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1590dup (p.Val531fs)	duplication	Congenital hyperammonemia, type I [RCV004799088]	Chr2:210600594..210600595 [GRCh38] Chr2:211465318..211465319 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.381+3A>G	single nucleotide variant	not specified [RCV004766895]	Chr2:210576493 [GRCh38] Chr2:211441217 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2204C>T (p.Ala735Val)	single nucleotide variant	not provided [RCV004760078]	Chr2:210608372 [GRCh38] Chr2:211473096 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4474A>G (p.Arg1492Gly)	single nucleotide variant	not provided [RCV004772440]	Chr2:210677956 [GRCh38] Chr2:211542680 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3479A>C (p.Gln1160Pro)	single nucleotide variant	not provided [RCV004759856]	Chr2:210650437 [GRCh38] Chr2:211515161 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2423G>A (p.Ser808Asn)	single nucleotide variant	not provided [RCV004763926]	Chr2:210612148 [GRCh38] Chr2:211476872 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3480+3A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV004764439]	Chr2:210650441 [GRCh38] Chr2:211515165 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1072G>C (p.Asp358His)	single nucleotide variant	not specified [RCV004703093]	Chr2:210591955 [GRCh38] Chr2:211456679 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.197C>T (p.Ser66Phe)	single nucleotide variant	not specified [RCV004699697]	Chr2:210573368 [GRCh38] Chr2:211438092 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2375T>G (p.Met792Arg)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005000631]	Chr2:210608543 [GRCh38] Chr2:211473267 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3734T>A (p.Leu1245His)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005000632]	Chr2:210658666 [GRCh38] Chr2:211523390 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.4379G>T (p.Gly1460Val)	single nucleotide variant	Inborn genetic diseases [RCV004979143]	Chr2:210677111 [GRCh38] Chr2:211541835 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3887T>C (p.Leu1296Ser)	single nucleotide variant	Inborn genetic diseases [RCV004979148]	Chr2:210660615 [GRCh38] Chr2:211525339 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1606A>G (p.Thr536Ala)	single nucleotide variant	Inborn genetic diseases [RCV004979149]	Chr2:210600611 [GRCh38] Chr2:211465335 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1086+2T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV005030858]	Chr2:210591971 [GRCh38] Chr2:211456695 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2549G>C (p.Arg850Pro)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005030863]	Chr2:210612274 [GRCh38] Chr2:211476998 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1891_1894del (p.Lys630_Glu631insTer)	microsatellite	Congenital hyperammonemia, type I [RCV005030859]	Chr2:210605152..210605155 [GRCh38] Chr2:211469876..211469879 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.1927A>G (p.Asn643Asp)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005000630]	Chr2:210605192 [GRCh38] Chr2:211469916 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3417G>A (p.Met1139Ile)	single nucleotide variant	Inborn genetic diseases [RCV004979141]	Chr2:210650375 [GRCh38] Chr2:211515099 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1265T>G (p.Val422Gly)	single nucleotide variant	Inborn genetic diseases [RCV004979144]	Chr2:210595488 [GRCh38] Chr2:211460212 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4048A>G (p.Met1350Val)	single nucleotide variant	Inborn genetic diseases [RCV004979146]	Chr2:210668231 [GRCh38] Chr2:211532955 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3527T>C (p.Val1176Ala)	single nucleotide variant	Inborn genetic diseases [RCV004979147]	Chr2:210654071 [GRCh38] Chr2:211518795 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2010_2013del (p.Gln670fs)	deletion	Congenital hyperammonemia, type I [RCV005030860]	Chr2:210606757..210606760 [GRCh38] Chr2:211471481..211471484 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2304C>G (p.Tyr768Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005030861]	Chr2:210608472 [GRCh38] Chr2:211473196 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3096del (p.Phe1032fs)	deletion	Congenital hyperammonemia, type I [RCV005030867]	Chr2:210642618 [GRCh38] Chr2:211507342 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.236G>A (p.Gly79Glu)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005030857]	Chr2:210573407 [GRCh38] Chr2:211438131 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2408G>A (p.Arg803His)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005030862]	Chr2:210612133 [GRCh38] Chr2:211476857 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2788G>T (p.Glu930Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005030864]	Chr2:210637802 [GRCh38] Chr2:211502526 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.2807_2811dup (p.His938fs)	duplication	Congenital hyperammonemia, type I [RCV005030866]	Chr2:210637820..210637821 [GRCh38] Chr2:211502544..211502545 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3559-1G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV005030868]	Chr2:210656524 [GRCh38] Chr2:211521248 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3702del (p.Phe1234fs)	deletion	Congenital hyperammonemia, type I [RCV005030869]	Chr2:210658631 [GRCh38] Chr2:211523355 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3757-1G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV005030870]	Chr2:210660484 [GRCh38] Chr2:211525208 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3706A>G (p.Ile1236Val)	single nucleotide variant	Inborn genetic diseases [RCV004979140]	Chr2:210658638 [GRCh38] Chr2:211523362 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.344T>G (p.Leu115Arg)	single nucleotide variant	Inborn genetic diseases [RCV004979150]	Chr2:210576453 [GRCh38] Chr2:211441177 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.535A>G (p.Met179Val)	single nucleotide variant	Inborn genetic diseases [RCV004979142]	Chr2:210582623 [GRCh38] Chr2:211447347 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1729G>A (p.Ala577Thr)	single nucleotide variant	Inborn genetic diseases [RCV004979145]	Chr2:210602223 [GRCh38] Chr2:211466947 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.4101+1G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV005145746]	Chr2:210668285 [GRCh38] Chr2:211533009 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.1574T>C (p.Val525Ala)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005106519]	Chr2:210600579 [GRCh38] Chr2:211465303 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.858C>T (p.Arg286=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005171766]	Chr2:210590817 [GRCh38] Chr2:211455541 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4131G>A (p.Val1377=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005172386]	Chr2:210674931 [GRCh38] Chr2:211539655 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3039G>T (p.Val1013=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005172806]	Chr2:210642563 [GRCh38] Chr2:211507287 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4192C>G (p.Leu1398Val)	single nucleotide variant	not specified [RCV005088565]	Chr2:210675758 [GRCh38] Chr2:211540482 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1539T>C (p.Ala513=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005160878]	Chr2:210599551 [GRCh38] Chr2:211464275 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.528+14_528+16del	deletion	Congenital hyperammonemia, type I [RCV005107429]	Chr2:210579783..210579785 [GRCh38] Chr2:211444507..211444509 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3657C>T (p.Ala1219=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005206700]	Chr2:210656623 [GRCh38] Chr2:211521347 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2391+13T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV005121004]	Chr2:210608572 [GRCh38] Chr2:211473296 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1550-1G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV005187169]	Chr2:210600554 [GRCh38] Chr2:211465278 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.794C>G (p.Pro265Arg)	single nucleotide variant	not specified [RCV005239906]	Chr2:210590188 [GRCh38] Chr2:211454912 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3142-9A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV005133558]	Chr2:210647854 [GRCh38] Chr2:211512578 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2322C>T (p.Pro774=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005117386]	Chr2:210608490 [GRCh38] Chr2:211473214 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.636C>A (p.Tyr212Ter)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005117393]	Chr2:210588072 [GRCh38] Chr2:211452796 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3632C>G (p.Pro1211Arg)	single nucleotide variant	not specified [RCV005238389]	Chr2:210656598 [GRCh38] Chr2:211521322 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2975T>G (p.Phe992Cys)	single nucleotide variant	not provided [RCV005236302]	Chr2:210642499 [GRCh38] Chr2:211507223 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1164+4C>T	single nucleotide variant	not specified [RCV005238709]	Chr2:210592960 [GRCh38] Chr2:211457684 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3589G>A (p.Glu1197Lys)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005234901]	Chr2:210656555 [GRCh38] Chr2:211521279 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1086+20C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV005121410]	Chr2:210591989 [GRCh38] Chr2:211456713 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1805A>G (p.Asn602Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005188347]	Chr2:210602299 [GRCh38] Chr2:211467023 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1550-18T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV005084490]	Chr2:210600537 [GRCh38] Chr2:211465261 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3873A>G (p.Lys1291=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005164766]	Chr2:210660601 [GRCh38] Chr2:211525325 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3141+12A>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV005157661]	Chr2:210642677 [GRCh38] Chr2:211507401 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4161+15T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV005156410]	Chr2:210674976 [GRCh38] Chr2:211539700 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.366G>A (p.Glu122=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005116101]	Chr2:210576475 [GRCh38] Chr2:211441199 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.948-11T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV005189243]	Chr2:210591820 [GRCh38] Chr2:211456544 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1264-2A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV005120202]	Chr2:210595485 [GRCh38] Chr2:211460209 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.841-6A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV005183183]	Chr2:210590794 [GRCh38] Chr2:211455518 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1263+7A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV005076842]	Chr2:210594613 [GRCh38] Chr2:211459337 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2475C>A (p.Pro825=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005163565]	Chr2:210612200 [GRCh38] Chr2:211476924 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3336+17G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV005165333]	Chr2:210648074 [GRCh38] Chr2:211512798 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.840+15G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV005186196]	Chr2:210590249 [GRCh38] Chr2:211454973 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1164+4C>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV005192985]	Chr2:210592960 [GRCh38] Chr2:211457684 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3486C>T (p.His1162=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005120719]	Chr2:210654030 [GRCh38] Chr2:211518754 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.841-18A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV005182086]	Chr2:210590782 [GRCh38] Chr2:211455506 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4185A>G (p.Ser1395=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005162095]	Chr2:210675751 [GRCh38] Chr2:211540475 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4161+10T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV005083542]	Chr2:210674971 [GRCh38] Chr2:211539695 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.472-18A>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV005121168]	Chr2:210579696 [GRCh38] Chr2:211444420 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.11T>C (p.Ile4Thr)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005083752]	Chr2:210556744 [GRCh38] Chr2:211421468 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3243G>A (p.Leu1081=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005156729]	Chr2:210647964 [GRCh38] Chr2:211512688 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.4101+20G>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV005183149]	Chr2:210668304 [GRCh38] Chr2:211533028 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3142-12T>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV005116345]	Chr2:210647851 [GRCh38] Chr2:211512575 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1220C>T (p.Thr407Ile)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005190760]	Chr2:210594563 [GRCh38] Chr2:211459287 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1516C>T (p.Leu506=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005191679]	Chr2:210599528 [GRCh38] Chr2:211464252 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3255G>A (p.Arg1085=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005123704]	Chr2:210647976 [GRCh38] Chr2:211512700 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1632G>T (p.Thr544=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005153886]	Chr2:210600637 [GRCh38] Chr2:211465361 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2568+7T>A	single nucleotide variant	Congenital hyperammonemia, type I [RCV005073358]	Chr2:210612300 [GRCh38] Chr2:211477024 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.3405-16C>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV005154055]	Chr2:210650347 [GRCh38] Chr2:211515071 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1750G>A (p.Val584Met)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005070649]	Chr2:210602244 [GRCh38] Chr2:211466968 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.388G>A (p.Gly130Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005181540]	Chr2:210577427 [GRCh38] Chr2:211442151 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2392-20G>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV005114883]	Chr2:210612097 [GRCh38] Chr2:211476821 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1596A>G (p.Lys532=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005198855]	Chr2:210600601 [GRCh38] Chr2:211465325 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2960-9T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV005156141]	Chr2:210642475 [GRCh38] Chr2:211507199 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1363_1364del (p.Glu455fs)	deletion	Congenital hyperammonemia, type I [RCV005156183]	Chr2:210599374..210599375 [GRCh38] Chr2:211464098..211464099 [GRCh37] Chr2:2q34	pathogenic
NM_001875.5(CPS1):c.3886T>A (p.Leu1296Met)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005182065]	Chr2:210660614 [GRCh38] Chr2:211525338 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.237-12A>T	single nucleotide variant	Congenital hyperammonemia, type I [RCV005115230]	Chr2:210576334 [GRCh38] Chr2:211441058 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.841-8_841-7del	deletion	Congenital hyperammonemia, type I [RCV005183182]	Chr2:210590792..210590793 [GRCh38] Chr2:211455516..211455517 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2127A>G (p.Glu709=)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005107411]	Chr2:210606876 [GRCh38] Chr2:211471600 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.1165-10T>G	single nucleotide variant	Congenital hyperammonemia, type I [RCV005123648]	Chr2:210594498 [GRCh38] Chr2:211459222 [GRCh37] Chr2:2q34	likely benign
NM_001875.5(CPS1):c.2220G>T (p.Lys740Asn)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005254225]	Chr2:210608388 [GRCh38] Chr2:211473112 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.126+1G>C	single nucleotide variant	Congenital hyperammonemia, type I [RCV005396459]	Chr2:210556860 [GRCh38] Chr2:211421584 [GRCh37] Chr2:2q34	likely pathogenic
NM_001875.5(CPS1):c.3625A>G (p.Met1209Val)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005365582]	Chr2:210656591 [GRCh38] Chr2:211521315 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1873T>A (p.Ser625Thr)	single nucleotide variant	Inborn genetic diseases [RCV005322388]	Chr2:210605138 [GRCh38] Chr2:211469862 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2630T>C (p.Phe877Ser)	single nucleotide variant	Inborn genetic diseases [RCV005322391]	Chr2:210616484 [GRCh38] Chr2:211481208 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.623A>G (p.Asp208Gly)	single nucleotide variant	Inborn genetic diseases [RCV005322393]	Chr2:210588059 [GRCh38] Chr2:211452783 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3631C>T (p.Pro1211Ser)	single nucleotide variant	Congenital hyperammonemia, type I [RCV005252375]	Chr2:210656597 [GRCh38] Chr2:211521321 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1465C>T (p.Pro489Ser)	single nucleotide variant	Inborn genetic diseases [RCV005322392]	Chr2:210599477 [GRCh38] Chr2:211464201 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3356C>T (p.Ala1119Val)	single nucleotide variant	Inborn genetic diseases [RCV005322389]	Chr2:210648492 [GRCh38] Chr2:211513216 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2528T>C (p.Leu843Ser)	single nucleotide variant	not specified [RCV005417907]	Chr2:210612253 [GRCh38] Chr2:211476977 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.1951G>A (p.Glu651Lys)	single nucleotide variant	not specified [RCV005418827]	Chr2:210605216 [GRCh38] Chr2:211469940 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3101A>G (p.Glu1034Gly)	single nucleotide variant	not specified [RCV005409122]	Chr2:210642625 [GRCh38] Chr2:211507349 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.2731G>C (p.Gly911Arg)	single nucleotide variant	not specified [RCV005418881]	Chr2:210637745 [GRCh38] Chr2:211502469 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.773G>A (p.Gly258Glu)	single nucleotide variant	not specified [RCV005418823]	Chr2:210590167 [GRCh38] Chr2:211454891 [GRCh37] Chr2:2q34	uncertain significance
NM_001875.5(CPS1):c.3666+77dup	duplication	Congenital hyperammonemia, type I [RCV000987000]\|not provided [RCV001712834]	Chr2:210656693..210656694 [GRCh38] Chr2:211521417..211521418 [GRCh37] Chr2:2q34	benign
NM_001875.5(CPS1):c.3517G>C (p.Ala1173Pro)	single nucleotide variant	Congenital hyperammonemia, type I [RCV000986998]	Chr2:210654061 [GRCh38] Chr2:211518785 [GRCh37] Chr2:2q34	likely pathogenic

miRNA Target Status (No longer updated)

Predicted Target Of

	Summary Value
Count of predictions:	2390
Count of miRNA genes:	833
Interacting mature miRNAs:	977
Transcripts:	ENST00000233072, ENST00000417946, ENST00000430249, ENST00000451903, ENST00000467353, ENST00000470791, ENST00000479988, ENST00000497121, ENST00000497163, ENST00000518043, ENST00000523702
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
616475838	GWAS1872421_H	blood protein amount QTL GWAS1872421 (human)		4e-14	blood protein amount		2	210498225	210498226	Human
597177241	GWAS1273315_H	glycine measurement QTL GWAS1273315 (human)		4e-15	glycine measurement		2	210617549	210617550	Human
407035968	GWAS684944_H	red blood cell density measurement QTL GWAS684944 (human)		3e-11	erythrocyte count		2	210678331	210678332	Human
597177242	GWAS1273316_H	glycine measurement QTL GWAS1273316 (human)		1e-200	glycine measurement		2	210675783	210675784	Human
628888952	GWAS2797181_H	gamma-glutamylglycine measurement QTL GWAS2797181 (human)		9e-22	plasma betaine measurement		2	210675783	210675784	Human
597025680	GWAS1121754_H	alcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS1121754 (human)		3e-16	blood HDL cholesterol amount (VT:0000184)	blood high density lipoprotein cholesterol level (CMO:0000052)	2	210675783	210675784	Human
598014882	GWAS1734181_H	erythrocyte volume QTL GWAS1734181 (human)		1e-28	blood L-serine amount (VT:0010966)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
597828516	GWAS1695907_H	tyrosine measurement QTL GWAS1695907 (human)		3e-12	tyrosine measurement		2	210678331	210678332	Human
616367290	GWAS1847532_H	mean corpuscular hemoglobin concentration QTL GWAS1847532 (human)		3e-17	mean corpuscular hemoglobin concentration		2	210675783	210675784	Human
597259154	GWAS1355228_H	tyrosine measurement QTL GWAS1355228 (human)		7e-12	tyrosine measurement		2	210678331	210678332	Human
406925391	GWAS574367_H	citrulline measurement QTL GWAS574367 (human)		1e-14	citrulline measurement		2	210502456	210502457	Human
597187468	GWAS1283542_H	metabolite measurement QTL GWAS1283542 (human)		1e-44	metabolite measurement		2	210675783	210675784	Human
406925399	GWAS574375_H	creatine measurement QTL GWAS574375 (human)		2e-30	creatine measurement		2	210678331	210678332	Human
597590920	GWAS1647780_H	kidney failure QTL GWAS1647780 (human)		5e-14	kidney failure		2	210675783	210675784	Human
616477863	GWAS1874446_H	vitamin D amount QTL GWAS1874446 (human)		1e-11	erythrocyte volume		2	210675783	210675784	Human
597187459	GWAS1283533_H	isobutyrylglycine measurement QTL GWAS1283533 (human)		2e-38	isobutyrylglycine measurement		2	210675783	210675784	Human
628794725	GWAS2702954_H	pyroglutamine measurement QTL GWAS2702954 (human)		2e-16	body size trait (VT:0100005)	body mass index (BMI) (CMO:0000105)	2	210678331	210678332	Human
598008709	GWAS1728008_H	BLVRB/CA3 protein level ratio in blood QTL GWAS1728008 (human)		2e-59	BLVRB/CA3 protein level ratio in blood		2	210675783	210675784	Human
628868442	GWAS2776671_H	cinnamoylglycine measurement QTL GWAS2776671 (human)		3e-79	cinnamoylglycine measurement		2	210675783	210675784	Human
407365733	GWAS1014709_H	blood protein measurement QTL GWAS1014709 (human)		1e-22	blood protein measurement		2	210675783	210675784	Human
617131244	GWAS2148743_H	chitinase-3-like protein 1 measurement QTL GWAS2148743 (human)		6e-17	chitinase-3-like protein 1 measurement		2	210675783	210675784	Human
628665692	GWAS2573921_H	body fat percentage QTL GWAS2573921 (human)		2e-08	body fat mass (VT:0010482)	body fat percentage (CMO:0000302)	2	210678331	210678332	Human
597085107	GWAS1181181_H	mean platelet volume QTL GWAS1181181 (human)		6e-37	mean platelet volume		2	210675783	210675784	Human
598082433	GWAS1801732_H	serum creatinine amount QTL GWAS1801732 (human)		1e-103	serum creatinine amount		2	210675783	210675784	Human
598037389	GWAS1756688_H	venous thromboembolism, circulating fibrinogen levels QTL GWAS1756688 (human)		3e-19	venous thromboembolism, circulating fibrinogen levels		2	210678331	210678332	Human
407091306	GWAS740282_H	urinary metabolite measurement QTL GWAS740282 (human)		3e-25	urinary metabolite measurement		2	210675783	210675784	Human
598023054	GWAS1742353_H	glomerular filtration rate QTL GWAS1742353 (human)		0.000004	glomerular filtration rate		2	210675783	210675784	Human
407355499	GWAS1004475_H	glycine measurement QTL GWAS1004475 (human)		3e-1655	glycine measurement		2	210675783	210675784	Human
407091310	GWAS740286_H	urinary metabolite measurement QTL GWAS740286 (human)		2e-21	urinary metabolite measurement		2	210675783	210675784	Human
407091308	GWAS740284_H	urinary metabolite measurement QTL GWAS740284 (human)		5e-26	urinary metabolite measurement		2	210675783	210675784	Human
628569413	GWAS2477642_H	human papilloma virus infection, oropharynx cancer QTL GWAS2477642 (human)		0.000004	response to viral infection trait (VT:0010439)		2	210483300	210483301	Human
597078946	GWAS1175020_H	platelet count QTL GWAS1175020 (human)		2e-52	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	2	210675783	210675784	Human
597031843	GWAS1127917_H	glomerular filtration rate QTL GWAS1127917 (human)		3e-33	glomerular filtration rate		2	210675783	210675784	Human
628411715	GWAS2319944_H	apolipoprotein A 1 measurement QTL GWAS2319944 (human)		5e-34	apolipoprotein A 1 measurement	blood apolipoprotein AI level (CMO:0000520)	2	210675783	210675784	Human
597091246	GWAS1187320_H	body mass index QTL GWAS1187320 (human)		0.000004	body size trait (VT:0100005)	body mass index (BMI) (CMO:0000105)	2	210678331	210678332	Human
628409677	GWAS2317906_H	urinary metabolite measurement QTL GWAS2317906 (human)		3e-13	urine molecular composition trait (VT:0001757)		2	210675783	210675784	Human
628428108	GWAS2336337_H	eosinophil count QTL GWAS2336337 (human)		1e-15	lung integrity trait (VT:0010906)	blood eosinophil count (CMO:0000033)	2	210678331	210678332	Human
597590949	GWAS1647809_H	kidney failure QTL GWAS1647809 (human)		2e-15	kidney failure		2	210675783	210675784	Human
407099516	GWAS748492_H	color vision disorder QTL GWAS748492 (human)		0.000009	color vision disorder		2	210673731	210673732	Human
597822365	GWAS1689756_H	coronary artery disease QTL GWAS1689756 (human)		2e-15	glycine measurement		2	210678331	210678332	Human
628747590	GWAS2655819_H	glycine measurement QTL GWAS2655819 (human)		2e-15	coronary artery integrity trait (VT:0010746)	blood amino acid measurement (CMO:0003730)	2	210678331	210678332	Human
597025751	GWAS1121825_H	alcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS1121825 (human)		1e-13	N-palmitoylglycine measurement		2	210675783	210675784	Human
597181402	GWAS1277476_H	protein measurement QTL GWAS1277476 (human)		5e-22	protein measurement		2	210481327	210481328	Human
628708666	GWAS2616895_H	metabolite measurement QTL GWAS2616895 (human)		3e-31	metabolite measurement		2	210675783	210675784	Human
628708669	GWAS2616898_H	glycine measurement QTL GWAS2616898 (human)		9e-96	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
597154768	GWAS1250842_H	sex hormone-binding globulin measurement QTL GWAS1250842 (human)		6e-15	sex hormone-binding globulin measurement		2	210675783	210675784	Human
616557815	GWAS1954398_H	total blood protein measurement QTL GWAS1954398 (human)		3e-26	total blood protein measurement		2	210675783	210675784	Human
616527095	GWAS1923678_H	platelet count QTL GWAS1923678 (human)		4e-55	platelet count		2	210675783	210675784	Human
596954072	GWAS1073591_H	urinary metabolite measurement QTL GWAS1073591 (human)		2e-16	urinary metabolite measurement		2	210675783	210675784	Human
597169109	GWAS1265183_H	platelet count QTL GWAS1265183 (human)		9e-14	platelet count		2	210675783	210675784	Human
407316489	GWAS965465_H	calcium measurement QTL GWAS965465 (human)		3e-08	calcium measurement		2	210678331	210678332	Human
597140422	GWAS1236496_H	X-17325 measurement QTL GWAS1236496 (human)		6e-14	systolic blood pressure		2	210675783	210675784	Human
628706603	GWAS2614832_H	X-17325 measurement QTL GWAS2614832 (human)		1e-16	serum alanine aminotransferase amount		2	210675783	210675784	Human
628757801	GWAS2666030_H	butyrylglycine measurement QTL GWAS2666030 (human)		7e-55	butyrylglycine measurement		2	210675783	210675784	Human
406962199	GWAS611175_H	alcohol consumption measurement, high density lipoprotein cholesterol measurement QTL GWAS611175 (human)		4e-12	diastolic blood pressure		2	210675783	210675784	Human
597052352	GWAS1148426_H	vitamin D measurement QTL GWAS1148426 (human)		1e-11	NMMA measurement		2	210675783	210675784	Human
407011349	GWAS660325_H	glycine measurement, amino acid measurement QTL GWAS660325 (human)		2e-75	glycine measurement, amino acid measurement		2	210678331	210678332	Human
406964250	GWAS613226_H	fibrinogen measurement QTL GWAS613226 (human)		9e-14	fibrinogen measurement		2	210678331	210678332	Human
597314554	GWAS1410628_H	isovalerylglycine measurement QTL GWAS1410628 (human)		4e-34	cerebrospinal fluid biomarker measurement, N-acetylglycine measurement		2	210675783	210675784	Human
616367324	GWAS1847566_H	plasma betaine measurement QTL GWAS1847566 (human)		1e-08	plasma betaine measurement		2	210678331	210678332	Human
597079028	GWAS1175102_H	platelet count QTL GWAS1175102 (human)		7e-56	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	2	210675783	210675784	Human
617196715	GWAS2177155_H	level of beta-glucuronidase in blood QTL GWAS2177155 (human)		1e-16	level of beta-glucuronidase in blood		2	210675783	210675784	Human
597181435	GWAS1277509_H	creatinine measurement QTL GWAS1277509 (human)		3e-19	creatinine measurement		2	210675783	210675784	Human
628706576	GWAS2614805_H	metabolite measurement QTL GWAS2614805 (human)		9e-24	metabolite measurement		2	210675783	210675784	Human
597052410	GWAS1148484_H	systolic blood pressure QTL GWAS1148484 (human)		9e-13	threonine measurement		2	210675783	210675784	Human
628970769	GWAS2878998_H	platelet count QTL GWAS2878998 (human)		9e-16	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	2	210678331	210678332	Human
616367314	GWAS1847556_H	leukocyte quantity QTL GWAS1847556 (human)		2e-13	blood L-threonine amount (VT:0010983)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
598072277	GWAS1791576_H	serum homoarginine amount QTL GWAS1791576 (human)		2e-67	serum homoarginine amount		2	210675783	210675784	Human
597119974	GWAS1216048_H	platelet count QTL GWAS1216048 (human)		0.000002	platelet count		2	210675783	210675784	Human
628487430	GWAS2395659_H	serum metabolite level QTL GWAS2395659 (human)		2e-20	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	2	210675783	210675784	Human
628651275	GWAS2559504_H	glycine measurement QTL GWAS2559504 (human)		4e-1206	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210678423	210678424	Human
628501763	GWAS2409992_H	ACE2/GGT1 protein level ratio in blood QTL GWAS2409992 (human)		2e-28	ACE2/GGT1 protein level ratio in blood		2	210675783	210675784	Human
616555721	GWAS1952304_H	platelet component distribution width QTL GWAS1952304 (human)		1e-19	platelet component distribution width		2	210678331	210678332	Human
628569345	GWAS2477574_H	urate measurement QTL GWAS2477574 (human)		1e-36	urate measurement	blood uric acid level (CMO:0000501)	2	210675783	210675784	Human
628950282	GWAS2858511_H	serum alanine aminotransferase amount QTL GWAS2858511 (human)		6e-19	serum alanine aminotransferase amount		2	210678331	210678332	Human
407009343	GWAS658319_H	mean corpuscular hemoglobin QTL GWAS658319 (human)		2e-26	erythrocyte hemoglobin amount (VT:0010953)	mean corpuscular hemoglobin (CMO:0000290)	2	210678331	210678332	Human
628706567	GWAS2614796_H	metabolite measurement QTL GWAS2614796 (human)		5e-23	metabolite measurement		2	210678331	210678332	Human
628708615	GWAS2616844_H	metabolite measurement QTL GWAS2616844 (human)		9e-60	metabolite measurement		2	210675783	210675784	Human
628706566	GWAS2614795_H	tigloylglycine measurement QTL GWAS2614795 (human)		3e-47	tigloylglycine measurement		2	210675783	210675784	Human
406939841	GWAS588817_H	alcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS588817 (human)		3e-16	alcohol drinking, high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
406921408	GWAS570384_H	mean corpuscular hemoglobin QTL GWAS570384 (human)		1e-10	erythrocyte hemoglobin amount (VT:0010953)	mean corpuscular hemoglobin (CMO:0000290)	2	210675783	210675784	Human
628686329	GWAS2594558_H	uric acid measurement QTL GWAS2594558 (human)		2e-41	blood uric acid amount (VT:0010302)	blood uric acid level (CMO:0000501)	2	210675783	210675784	Human
628868601	GWAS2776830_H	citrulline measurement QTL GWAS2776830 (human)		3e-25	blood L-citrulline amount (VT:0010986)	blood amino acid measurement (CMO:0003730)	2	210564791	210564792	Human
407367876	GWAS1016852_H	glycine measurement QTL GWAS1016852 (human)		1e-18	glycine measurement		2	210675783	210675784	Human
616557628	GWAS1954211_H	whole body water mass QTL GWAS1954211 (human)		4e-33	whole body water mass		2	210675783	210675784	Human
597039891	GWAS1135965_H	urinary metabolite measurement QTL GWAS1135965 (human)		1e-12	gout		2	210675783	210675784	Human
597039889	GWAS1135963_H	urinary metabolite measurement QTL GWAS1135963 (human)		7e-18	urinary metabolite measurement		2	210675783	210675784	Human
407396546	GWAS1045522_H	mean corpuscular volume QTL GWAS1045522 (human)		7e-29	mean corpuscular volume		2	210675783	210675784	Human
628915696	GWAS2823925_H	serum creatinine amount, glycine measurement QTL GWAS2823925 (human)		3e-37	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
628620794	GWAS2529023_H	glomerular filtration rate QTL GWAS2529023 (human)		2e-102	glomerular filtration rate		2	210675783	210675784	Human
407015628	GWAS664604_H	serum alanine aminotransferase measurement QTL GWAS664604 (human)		6e-18	serum alanine aminotransferase measurement		2	210675783	210675784	Human
628651510	GWAS2559739_H	glycine measurement QTL GWAS2559739 (human)		2e-27	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210671540	210671541	Human
406925522	GWAS574498_H	X-17325 measurement QTL GWAS574498 (human)		2e-13	neutrophil count		2	210678331	210678332	Human
407038166	GWAS687142_H	urate measurement QTL GWAS687142 (human)		1e-32	serum metabolite measurement, glycine measurement		2	210678331	210678332	Human
628588002	GWAS2496231_H	cholesterol:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS2496231 (human)		7e-10	blood IDL cholesterol amount (VT:0010503)	blood intermediate density lipoprotein cholesterol level (CMO:0001562)	2	210675783	210675784	Human
616475689	GWAS1872272_H	serum metabolite level QTL GWAS1872272 (human)		2e-20	neutrophil count		2	210675783	210675784	Human
617116753	GWAS2134252_H	fibroblast growth factor 21 amount QTL GWAS2134252 (human)		4e-21	fibroblast growth factor 21 amount		2	210675783	210675784	Human
598072123	GWAS1791422_H	serum creatinine amount QTL GWAS1791422 (human)		3e-19	serum creatinine amount		2	210675783	210675784	Human
406941918	GWAS590894_H	eosinophil count QTL GWAS590894 (human)		1e-15	propionylglycine measurement		2	210678331	210678332	Human
597039881	GWAS1135955_H	urinary metabolite measurement QTL GWAS1135955 (human)		7e-17	urinary metabolite measurement		2	210675783	210675784	Human
616387613	GWAS1867855_H	obsolete_serum alanine aminotransferase measurement QTL GWAS1867855 (human)		6e-19	obsolete_serum alanine aminotransferase measurement		2	210678331	210678332	Human
597992198	GWAS1711497_H	glomerular filtration rate QTL GWAS1711497 (human)		2e-62	glomerular filtration rate		2	210675783	210675784	Human
628825561	GWAS2733790_H	glomerular filtration rate QTL GWAS2733790 (human)		2e-150	glomerular filtration rate		2	210675783	210675784	Human
628968927	GWAS2877156_H	glomerular filtration rate QTL GWAS2877156 (human)		2e-66	glomerular filtration rate		2	210675783	210675784	Human
407351523	GWAS1000499_H	cholesteryl ester measurement, high density lipoprotein cholesterol measurement QTL GWAS1000499 (human)		2e-09	systolic blood pressure		2	210675783	210675784	Human
628706780	GWAS2615009_H	metabolite measurement QTL GWAS2615009 (human)		7e-28	metabolite measurement		2	210678331	210678332	Human
407113954	GWAS762930_H	protein measurement QTL GWAS762930 (human)		2e-08	protein measurement		2	210529463	210529464	Human
407036133	GWAS685109_H	mean corpuscular volume QTL GWAS685109 (human)		3e-08	serum alanine aminotransferase measurement		2	210675783	210675784	Human
597826309	GWAS1693700_H	glycine measurement QTL GWAS1693700 (human)		4e-1206	glycine measurement		2	210678423	210678424	Human
628757981	GWAS2666210_H	N-palmitoylglycine measurement QTL GWAS2666210 (human)		5e-53	N-palmitoylglycine measurement		2	210675783	210675784	Human
406958315	GWAS607291_H	urinary metabolite measurement QTL GWAS607291 (human)		8e-31	urinary metabolite measurement		2	210678331	210678332	Human
597039932	GWAS1136006_H	urinary metabolite measurement QTL GWAS1136006 (human)		1e-25	urinary metabolite measurement		2	210675783	210675784	Human
597039933	GWAS1136007_H	urinary metabolite measurement QTL GWAS1136007 (human)		4e-12	arginine measurement		2	210675783	210675784	Human
597826313	GWAS1693704_H	glycine measurement QTL GWAS1693704 (human)		2e-27	glycine measurement		2	210671540	210671541	Human
407351528	GWAS1000504_H	cholesterol:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS1000504 (human)		7e-10	cholesterol:total lipids ratio, intermediate density lipoprotein measurement		2	210675783	210675784	Human
628762058	GWAS2670287_H	histidine measurement QTL GWAS2670287 (human)		5e-49	blood L-hisitidine amount (VT:0010976)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
407308533	GWAS957509_H	glycine measurement QTL GWAS957509 (human)		7e-09	glycine measurement		2	210576771	210576772	Human
406958322	GWAS607298_H	urinary metabolite measurement QTL GWAS607298 (human)		3e-25	urinary metabolite measurement		2	210678331	210678332	Human
407308532	GWAS957508_H	glycine measurement QTL GWAS957508 (human)		1e-23	glycine measurement		2	210572663	210572664	Human
407308531	GWAS957507_H	glycine measurement QTL GWAS957507 (human)		2e-08	glycine measurement		2	210525055	210525056	Human
407316721	GWAS965697_H	obsolete_red blood cell distribution width QTL GWAS965697 (human)		3e-10	alanine measurement		2	210675783	210675784	Human
407105790	GWAS754766_H	platelet component distribution width QTL GWAS754766 (human)		1e-10	body height		2	210678331	210678332	Human
597328679	GWAS1424753_H	N-palmitoylglycine measurement QTL GWAS1424753 (human)		9e-69	N-palmitoylglycine measurement		2	210675783	210675784	Human
407050371	GWAS699347_H	osteoarthritis, knee, body mass index QTL GWAS699347 (human)		1e-20	osteoarthritis, knee, body mass index		2	210678331	210678332	Human
407257223	GWAS906199_H	butyrylglycine measurement QTL GWAS906199 (human)		7e-55	butyrylglycine measurement		2	210675783	210675784	Human
597828451	GWAS1695842_H	glutamine measurement QTL GWAS1695842 (human)		3e-10	glutamine measurement		2	210502371	210502372	Human
617198600	GWAS2179040_H	level of phosphatidylcholine-sterol acyltransferase in blood QTL GWAS2179040 (human)		9e-13	level of phosphatidylcholine-sterol acyltransferase in blood		2	210678331	210678332	Human
628401590	GWAS2309819_H	erythrocyte volume QTL GWAS2309819 (human)		4e-11	metabolite measurement		2	210675783	210675784	Human
407380109	GWAS1029085_H	plasma betaine measurement QTL GWAS1029085 (human)		4e-29	plasma betaine measurement		2	210675783	210675784	Human
598047584	GWAS1766883_H	circulating fibrinogen levels QTL GWAS1766883 (human)		0.0000007	circulating fibrinogen levels		2	210675783	210675784	Human
407257217	GWAS906193_H	gamma-glutamylglycine measurement QTL GWAS906193 (human)		5e-216	gamma-glutamylglycine measurement		2	210675783	210675784	Human
628549054	GWAS2457283_H	level of Xaa-Pro dipeptidase in blood QTL GWAS2457283 (human)		7e-22	level of Xaa-Pro dipeptidase in blood		2	210675783	210675784	Human
597144414	GWAS1240488_H	X-08988 measurement QTL GWAS1240488 (human)		7e-35	X-08988 measurement		2	210678331	210678332	Human
597306192	GWAS1402266_H	metabolite measurement QTL GWAS1402266 (human)		9e-24	metabolite measurement		2	210675783	210675784	Human
597599058	GWAS1655918_H	serum alanine aminotransferase measurement QTL GWAS1655918 (human)		3e-17	mean corpuscular hemoglobin concentration		2	210675783	210675784	Human
628561339	GWAS2469568_H	protein turtle homolog A measurement QTL GWAS2469568 (human)		8e-24	protein turtle homolog A measurement		2	210675783	210675784	Human
628409785	GWAS2318014_H	urinary metabolite measurement QTL GWAS2318014 (human)		1e-12	joint integrity trait (VT:0010548)		2	210675783	210675784	Human
597306184	GWAS1402258_H	metabolite measurement QTL GWAS1402258 (human)		5e-23	metabolite measurement		2	210678331	210678332	Human
407392411	GWAS1041387_H	metabolite measurement QTL GWAS1041387 (human)		4e-32	metabolite measurement		2	210675783	210675784	Human
597826426	GWAS1693817_H	metabolite measurement QTL GWAS1693817 (human)		4e-11	metabolite measurement		2	210675783	210675784	Human
407380113	GWAS1029089_H	gamma-glutamylglycine measurement QTL GWAS1029089 (human)		1e-152	gamma-glutamylglycine measurement		2	210675783	210675784	Human
617143313	GWAS2160812_H	Ly6/PLAUR domain-containing protein 3 measurement QTL GWAS2160812 (human)		7e-19	Ly6/PLAUR domain-containing protein 3 measurement		2	210675783	210675784	Human
407380115	GWAS1029091_H	cinnamoylglycine measurement QTL GWAS1029091 (human)		4e-27	cinnamoylglycine measurement		2	210675783	210675784	Human
406962333	GWAS611309_H	pain QTL GWAS611309 (human)		5e-10	pain		2	210490771	210490772	Human
407156888	GWAS805864_H	X-08988 measurement QTL GWAS805864 (human)		7e-35	X-08988 measurement		2	210678331	210678332	Human
407380116	GWAS1029092_H	glycine measurement QTL GWAS1029092 (human)		3e-222	glycine measurement		2	210675783	210675784	Human
407064733	GWAS713709_H	metabolite measurement QTL GWAS713709 (human)		2e-24	metabolite measurement		2	210678331	210678332	Human
407392427	GWAS1041403_H	metabolite measurement QTL GWAS1041403 (human)		6e-40	metabolite measurement		2	210675783	210675784	Human
597033845	GWAS1129919_H	body height QTL GWAS1129919 (human)		3e-09	apolipoprotein A 1 measurement		2	210675783	210675784	Human
597586813	GWAS1643673_H	glomerular filtration rate QTL GWAS1643673 (human)		3e-40	glomerular filtration rate		2	210675783	210675784	Human
597814082	GWAS1681473_H	sex hormone-binding globulin measurement QTL GWAS1681473 (human)		2e-29	plasma betaine measurement		2	210675783	210675784	Human
597144435	GWAS1240509_H	glycine measurement QTL GWAS1240509 (human)		4e-20	macular telangiectasia type 2		2	210675783	210675784	Human
597205885	GWAS1301959_H	glycine measurement QTL GWAS1301959 (human)		3e-1632	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210678331	210678332	Human
597089136	GWAS1185210_H	myeloid white cell count QTL GWAS1185210 (human)		6e-25	mean corpuscular hemoglobin		2	210675783	210675784	Human
407386272	GWAS1035248_H	blood protein measurement QTL GWAS1035248 (human)		3e-52	blood protein measurement		2	210675783	210675784	Human
597039997	GWAS1136071_H	urinary metabolite measurement QTL GWAS1136071 (human)		9e-23	X-21467 measurement		2	210675783	210675784	Human
407376037	GWAS1025013_H	platelet count QTL GWAS1025013 (human)		0.000002	platelet count		2	210675783	210675784	Human
628845973	GWAS2754202_H	X-16570 measurement QTL GWAS2754202 (human)		8e-195	X-16570 measurement		2	210675783	210675784	Human
407208118	GWAS857094_H	systolic blood pressure QTL GWAS857094 (human)		1e-09	cholesterol:total lipids ratio, low density lipoprotein cholesterol measurement		2	210675783	210675784	Human
407396539	GWAS1045515_H	N-acetylglycine measurement QTL GWAS1045515 (human)		3e-58	N-acetylglycine measurement		2	210675783	210675784	Human
616375369	GWAS1855611_H	obsolete_serum metabolite measurement QTL GWAS1855611 (human)		3e-27	obsolete_serum metabolite measurement		2	210675783	210675784	Human
616375368	GWAS1855610_H	obsolete_serum metabolite measurement QTL GWAS1855610 (human)		3e-64	obsolete_serum metabolite measurement		2	210675783	210675784	Human
407040180	GWAS689156_H	body mass index QTL GWAS689156 (human)		0.000004	body mass index		2	210678331	210678332	Human
616375370	GWAS1855612_H	obsolete_serum metabolite measurement QTL GWAS1855612 (human)		2e-40	obsolete_serum metabolite measurement		2	210675783	210675784	Human
616387653	GWAS1867895_H	obsolete_serum alanine aminotransferase measurement QTL GWAS1867895 (human)		3e-18	obsolete_serum alanine aminotransferase measurement		2	210678331	210678332	Human
616375365	GWAS1855607_H	obsolete_serum metabolite measurement QTL GWAS1855607 (human)		7e-83	obsolete_serum metabolite measurement		2	210675783	210675784	Human
626451887	GWAS2265820_H	bilirubin measurement QTL GWAS2265820 (human)		2e-37	bilirubin measurement		2	210675783	210675784	Human
628612494	GWAS2520723_H	cholelithiasis QTL GWAS2520723 (human)		1e-12	cholelithiasis		2	210678331	210678332	Human
616375367	GWAS1855609_H	obsolete_serum metabolite measurement QTL GWAS1855609 (human)		7e-25	obsolete_serum metabolite measurement		2	210675783	210675784	Human
626443692	GWAS2257625_H	eosinophil count QTL GWAS2257625 (human)		3e-16	eosinophil count		2	210678331	210678332	Human
616375366	GWAS1855608_H	obsolete_serum metabolite measurement QTL GWAS1855608 (human)		9e-116	obsolete_serum metabolite measurement		2	210675783	210675784	Human
597025643	GWAS1121717_H	chronic kidney disease QTL GWAS1121717 (human)		3e-08	arterial blood pressure trait (VT:2000000)	diastolic blood pressure (CMO:0000005)	2	210675783	210675784	Human
597117800	GWAS1213874_H	uric acid measurement QTL GWAS1213874 (human)		0.000002	uric acid measurement		2	210678331	210678332	Human
628491382	GWAS2399611_H	urinary potassium to creatinine ratio QTL GWAS2399611 (human)		1e-27	erythrocyte hemoglobin amount (VT:0010953)	blood apolipoprotein AI level (CMO:0000520)	2	210675783	210675784	Human
407046465	GWAS695441_H	alcohol consumption measurement QTL GWAS695441 (human)		2e-13	alcohol consumption measurement		2	210560156	210560157	Human
597828263	GWAS1695654_H	histidine measurement QTL GWAS1695654 (human)		8e-57	histidine measurement		2	210675783	210675784	Human
407089476	GWAS738452_H	urinary metabolite measurement QTL GWAS738452 (human)		3e-13	creatinine measurement		2	210675783	210675784	Human
628366460	GWAS2287304_H	phospholipid level, high density lipoprotein cholesterol measurement QTL GWAS2287304 (human)		3e-08	phospholipid level, high density lipoprotein cholesterol measurement		2	210645804	210645805	Human
406911305	GWAS560281_H	gamma-glutamylcitrulline measurement QTL GWAS560281 (human)		1e-11	gamma-glutamylcitrulline measurement		2	210515349	210515350	Human
406911306	GWAS560282_H	gamma-glutamylcitrulline measurement QTL GWAS560282 (human)		2e-11	gamma-glutamylcitrulline measurement		2	210492918	210492919	Human
628812913	GWAS2721142_H	platelet count QTL GWAS2721142 (human)		4e-55	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	2	210675783	210675784	Human
617145796	GWAS2163295_H	HGF/PLAUR protein level ratio in blood QTL GWAS2163295 (human)		7e-42	HGF/PLAUR protein level ratio in blood		2	210675783	210675784	Human
597994153	GWAS1713452_H	glomerular filtration rate QTL GWAS1713452 (human)		2e-102	glomerular filtration rate		2	210675783	210675784	Human
628491387	GWAS2399616_H	urinary sodium to creatinine ratio QTL GWAS2399616 (human)		3e-18	urine albumin amount (VT:0002871)	urine albumin level to urine creatinine level ratio (CMO:0000384)	2	210675783	210675784	Human
597820076	GWAS1687467_H	Red cell distribution width QTL GWAS1687467 (human)		2e-11	Red cell distribution width		2	210678331	210678332	Human
628593784	GWAS2502013_H	phospholipid level, high density lipoprotein cholesterol measurement QTL GWAS2502013 (human)		3e-08	blood HDL cholesterol amount (VT:0000184)	blood high density lipoprotein cholesterol level (CMO:0000052)	2	210645804	210645805	Human
616367533	GWAS1847775_H	neutrophil count QTL GWAS1847775 (human)		2e-20	obsolete_serum metabolite measurement		2	210675783	210675784	Human
616564179	GWAS1960762_H	level of meprin A subunit alpha in blood serum QTL GWAS1960762 (human)		7e-23	level of coagulation factor XIII B chain in blood serum		2	210675783	210675784	Human
628425827	GWAS2334056_H	vitamin D level QTL GWAS2334056 (human)		1e-11	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
628794477	GWAS2702706_H	serine measurement QTL GWAS2702706 (human)		3e-21	blood L-serine amount (VT:0010966)	blood amino acid measurement (CMO:0003730)	2	210678331	210678332	Human
406970712	GWAS619688_H	eosinophil percentage of leukocytes QTL GWAS619688 (human)		4e-10	choline amount (VT:0011000)	blood eosinophil count to total leukocyte count ratio (CMO:0000369)	2	210678331	210678332	Human
597187201	GWAS1283275_H	X-17367 measurement QTL GWAS1283275 (human)		1e-33	X-17367 measurement		2	210675783	210675784	Human
628794467	GWAS2702696_H	N-acetylglycine measurement QTL GWAS2702696 (human)		7e-58	N-acetylglycine measurement		2	210678331	210678332	Human
628794464	GWAS2702693_H	X-08988 measurement QTL GWAS2702693 (human)		7e-35	X-08988 measurement		2	210678331	210678332	Human
628833381	GWAS2741610_H	serine measurement QTL GWAS2741610 (human)		6e-84	blood L-serine amount (VT:0010966)	blood amino acid measurement (CMO:0003730)	2	210678331	210678332	Human
628794469	GWAS2702698_H	creatine level QTL GWAS2702698 (human)		1e-24	creatine level		2	210678331	210678332	Human
407386472	GWAS1035448_H	X-16570 measurement QTL GWAS1035448 (human)		8e-195	X-16570 measurement		2	210675783	210675784	Human
407003491	GWAS652467_H	lymphocyte count QTL GWAS652467 (human)		2e-11	N-acetylthreonine measurement		2	210675783	210675784	Human
597160630	GWAS1256704_H	high density lipoprotein cholesterol measurement QTL GWAS1256704 (human)		6e-09	high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
628894813	GWAS2803042_H	glycine measurement QTL GWAS2803042 (human)		8e-50	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
628866138	GWAS2774367_H	gamma-glutamylcitrulline measurement QTL GWAS2774367 (human)		2e-11	gamma-glutamylcitrulline measurement		2	210492918	210492919	Human
628866137	GWAS2774366_H	gamma-glutamylcitrulline measurement QTL GWAS2774366 (human)		1e-11	gamma-glutamylcitrulline measurement		2	210515349	210515350	Human
406966626	GWAS615602_H	eosinophil percentage of granulocytes QTL GWAS615602 (human)		3e-09	eosinophil quantity (VT:0002602)		2	210678331	210678332	Human
597111476	GWAS1207550_H	glomerular filtration rate QTL GWAS1207550 (human)		3e-42	glomerular filtration rate		2	210675783	210675784	Human
628866141	GWAS2774370_H	gamma-glutamylglycine measurement QTL GWAS2774370 (human)		1e-152	gamma-glutamylglycine measurement		2	210675783	210675784	Human
407353711	GWAS1002687_H	glycine measurement QTL GWAS1002687 (human)		1e-3580	glycine measurement		2	210675783	210675784	Human
597820040	GWAS1687431_H	glycine measurement QTL GWAS1687431 (human)		7e-15	tigloylglycine measurement		2	210675783	210675784	Human
616375697	GWAS1855939_H	obsolete_serum metabolite measurement QTL GWAS1855939 (human)		7e-11	obsolete_serum metabolite measurement		2	210675783	210675784	Human
597189288	GWAS1285362_H	metabolite measurement, diet measurement QTL GWAS1285362 (human)		1e-11	metabolite measurement, diet measurement		2	210591229	210591230	Human
628724809	GWAS2633038_H	hepatocyte growth factor activator level QTL GWAS2633038 (human)		7e-42	hepatocyte growth factor activator level		2	210675783	210675784	Human
597144230	GWAS1240304_H	pyroglutamine measurement QTL GWAS1240304 (human)		2e-16	body mass index		2	210678331	210678332	Human
597189290	GWAS1285364_H	metabolite measurement, diet measurement QTL GWAS1285364 (human)		7e-09	metabolite measurement, diet measurement		2	210634188	210634189	Human
407007601	GWAS656577_H	metabolite measurement QTL GWAS656577 (human)		7e-28	metabolite measurement		2	210678331	210678332	Human
407380347	GWAS1029323_H	plasma betaine measurement QTL GWAS1029323 (human)		9e-48	plasma betaine measurement		2	210675783	210675784	Human
598037142	GWAS1756441_H	cerebrospinal fluid composition attribute, serine measurement QTL GWAS1756441 (human)		2e-17	cerebrospinal fluid composition attribute, serine measurement		2	210675783	210675784	Human
407380349	GWAS1029325_H	creatine measurement QTL GWAS1029325 (human)		3e-59	creatine measurement		2	210675783	210675784	Human
628468800	GWAS2377029_H	lipoprotein A measurement QTL GWAS2377029 (human)		8e-31	serum alanine aminotransferase amount		2	210675783	210675784	Human
407007604	GWAS656580_H	mean corpuscular volume QTL GWAS656580 (human)		2e-47	blood urea nitrogen measurement		2	210675783	210675784	Human
407380337	GWAS1029313_H	X-17325 measurement QTL GWAS1029313 (human)		6e-14	X-17325 measurement		2	210675783	210675784	Human
407384435	GWAS1033411_H	propionylglycine measurement QTL GWAS1033411 (human)		2e-273	propionylglycine measurement		2	210675783	210675784	Human
628866117	GWAS2774346_H	creatine level QTL GWAS2774346 (human)		2e-30	creatine level		2	210678331	210678332	Human
597189287	GWAS1285361_H	metabolite measurement, diet measurement QTL GWAS1285361 (human)		6e-262	metabolite measurement, diet measurement		2	210675783	210675784	Human
617192841	GWAS2173281_H	apolipoprotein A 1 measurement QTL GWAS2173281 (human)		1e-27	apolipoprotein A 1 measurement		2	210675783	210675784	Human
597820135	GWAS1687526_H	serine measurement QTL GWAS1687526 (human)		2e-17	serine measurement		2	210675783	210675784	Human
628888633	GWAS2796862_H	glycine measurement QTL GWAS2796862 (human)		2e-125	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
628866109	GWAS2774338_H	citrulline measurement QTL GWAS2774338 (human)		1e-14	blood L-citrulline amount (VT:0010986)	blood amino acid measurement (CMO:0003730)	2	210502456	210502457	Human
597029597	GWAS1125671_H	glomerular filtration rate QTL GWAS1125671 (human)		7e-117	glomerular filtration rate		2	210675783	210675784	Human
628825138	GWAS2733367_H	serum creatinine amount QTL GWAS2733367 (human)		1e-103	serum creatinine amount		2	210675783	210675784	Human
597187284	GWAS1283358_H	2-butenoylglycine measurement QTL GWAS1283358 (human)		1e-47	2-butenoylglycine measurement		2	210675783	210675784	Human
407392536	GWAS1041512_H	propionylglycine measurement QTL GWAS1041512 (human)		3e-99	propionylglycine measurement		2	210675783	210675784	Human
597312202	GWAS1408276_H	isobutyrylglycine measurement QTL GWAS1408276 (human)		3e-57	isobutyrylglycine measurement		2	210675783	210675784	Human
407392537	GWAS1041513_H	isobutyrylglycine measurement QTL GWAS1041513 (human)		2e-35	isobutyrylglycine measurement		2	210675783	210675784	Human
407392540	GWAS1041516_H	isovalerylglycine measurement QTL GWAS1041516 (human)		2e-39	metabolite measurement		2	210675783	210675784	Human
597187276	GWAS1283350_H	isovalerylglycine measurement QTL GWAS1283350 (human)		2e-34	isovalerylglycine measurement		2	210675783	210675784	Human
597152448	GWAS1248522_H	phospholipid measurement, high density lipoprotein cholesterol measurement QTL GWAS1248522 (human)		3e-08	phospholipid measurement, high density lipoprotein cholesterol measurement		2	210645804	210645805	Human
407392532	GWAS1041508_H	serum homoarginine measurement QTL GWAS1041508 (human)		3e-60	serum homoarginine measurement		2	210675783	210675784	Human
597187269	GWAS1283343_H	hexanoylglycine measurement QTL GWAS1283343 (human)		9e-67	hexanoylglycine measurement		2	210675783	210675784	Human
407386391	GWAS1035367_H	metabolite measurement QTL GWAS1035367 (human)		2e-22	total blood protein measurement		2	210675783	210675784	Human
597822205	GWAS1689596_H	venous thromboembolism QTL GWAS1689596 (human)		3e-19	venous thromboembolism		2	210678331	210678332	Human
617285035	GWAS2221811_H	degree of unsaturation measurement QTL GWAS2221811 (human)		8e-10	metabolite measurement		2	210675783	210675784	Human
407220516	GWAS869492_H	N-palmitoylglycine measurement QTL GWAS869492 (human)		5e-53	N-palmitoylglycine measurement		2	210675783	210675784	Human
407087399	GWAS736375_H	urinary metabolite measurement QTL GWAS736375 (human)		7e-18	urinary metabolite measurement		2	210675783	210675784	Human
597084912	GWAS1180986_H	serum metabolite measurement QTL GWAS1180986 (human)		5e-20	metabolite measurement		2	210675783	210675784	Human
597236478	GWAS1332552_H	blood protein measurement QTL GWAS1332552 (human)		3e-52	blood protein measurement		2	210675783	210675784	Human
597185264	GWAS1281338_H	N-palmitoylglycine measurement QTL GWAS1281338 (human)		5e-53	N-palmitoylglycine measurement		2	210675783	210675784	Human
597031679	GWAS1127753_H	glomerular filtration rate QTL GWAS1127753 (human)		3e-12	X-12101 measurement		2	210675783	210675784	Human
628673554	GWAS2581783_H	serine measurement QTL GWAS2581783 (human)		1e-42	blood L-serine amount (VT:0010966)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
407087400	GWAS736376_H	urinary metabolite measurement QTL GWAS736376 (human)		1e-25	urinary metabolite measurement		2	210675783	210675784	Human
407398691	GWAS1047667_H	3-methylglutarylcarnitine (2) measurement QTL GWAS1047667 (human)		7e-61	3-methylglutarylcarnitine (2) measurement		2	210675783	210675784	Human
406925613	GWAS574589_H	blood protein measurement QTL GWAS574589 (human)		4e-14	blood protein measurement		2	210498225	210498226	Human
407204139	GWAS853115_H	cortical surface area measurement QTL GWAS853115 (human)		6e-09	cortical surface area measurement		2	210597156	210597157	Human
407398694	GWAS1047670_H	3-methylglutarylcarnitine (2) measurement QTL GWAS1047670 (human)		8e-65	3-methylglutarylcarnitine (2) measurement		2	210675783	210675784	Human
628835336	GWAS2743565_H	L-arginine measurement QTL GWAS2743565 (human)		1e-22	blood L-arginine amount (VT:0010975)	blood arginine level (CMO:0003731)	2	210678331	210678332	Human
407378239	GWAS1027215_H	platelet count QTL GWAS1027215 (human)		0.0000002	platelet count		2	210675783	210675784	Human
407392560	GWAS1041536_H	metabolite measurement, diet measurement QTL GWAS1041536 (human)		6e-262	metabolite measurement, diet measurement		2	210675783	210675784	Human
597084911	GWAS1180985_H	serum metabolite measurement QTL GWAS1180985 (human)		1e-17	serum metabolite measurement		2	210675783	210675784	Human
597254883	GWAS1350957_H	glycine measurement QTL GWAS1350957 (human)		1e-18	glycine measurement		2	210675783	210675784	Human
597205731	GWAS1301805_H	glycine measurement QTL GWAS1301805 (human)		2e-52	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210521760	210521761	Human
407380277	GWAS1029253_H	isobutyrylglycine measurement QTL GWAS1029253 (human)		3e-93	isobutyrylglycine measurement		2	210675783	210675784	Human
407380278	GWAS1029254_H	isovalerylglycine measurement QTL GWAS1029254 (human)		3e-81	isovalerylglycine measurement		2	210675783	210675784	Human
597084904	GWAS1180978_H	serum metabolite measurement QTL GWAS1180978 (human)		5e-22	serum metabolite measurement		2	210675783	210675784	Human
628667398	GWAS2575627_H	lean body mass QTL GWAS2575627 (human)		3e-23	body lean mass (VT:0010483)	total body lean mass (CMO:0003950)	2	210675783	210675784	Human
628757508	GWAS2665737_H	3-methylglutarylcarnitine (2) measurement QTL GWAS2665737 (human)		8e-91	3-methylglutarylcarnitine (2) measurement		2	210675783	210675784	Human
597144087	GWAS1240161_H	plasma betaine measurement QTL GWAS1240161 (human)		2e-19	2-methylserine measurement		2	210678331	210678332	Human
597991974	GWAS1711273_H	glomerular filtration rate QTL GWAS1711273 (human)		3e-12	fatty acid amount (VT:0010046)	mean corpuscular hemoglobin concentration (CMO:0000291)	2	210675783	210675784	Human
616516925	GWAS1913508_H	Abnormality of the skeletal system QTL GWAS1913508 (human)		8e-28	Abnormality of the skeletal system		2	210675783	210675784	Human
597260828	GWAS1356902_H	human papilloma virus infection, oropharynx cancer QTL GWAS1356902 (human)		0.000004	human papilloma virus infection, oropharynx cancer		2	210483300	210483301	Human
598026784	GWAS1746083_H	erythrocyte volume QTL GWAS1746083 (human)		1e-14	erythrocyte volume		2	210678331	210678332	Human
628446451	GWAS2354680_H	mean corpuscular hemoglobin concentration QTL GWAS2354680 (human)		6e-39	erythrocyte hemoglobin amount (VT:0010953)	mean corpuscular hemoglobin concentration (CMO:0000291)	2	210675783	210675784	Human
616367418	GWAS1847660_H	metabolite measurement QTL GWAS1847660 (human)		5e-20	obsolete_serum metabolite measurement		2	210675783	210675784	Human
628579583	GWAS2487812_H	apolipoprotein A 1 measurement QTL GWAS2487812 (human)		3e-09	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	210675783	210675784	Human
628845810	GWAS2754039_H	isobutyrylglycine measurement QTL GWAS2754039 (human)		3e-93	isobutyrylglycine measurement		2	210675783	210675784	Human
628927728	GWAS2835957_H	bilirubin measurement QTL GWAS2835957 (human)		2e-37	blood bilirubin amount (VT:0001569)	serum total bilirubin level (CMO:0000376)	2	210675783	210675784	Human
628651253	GWAS2559482_H	tyrosine measurement QTL GWAS2559482 (human)		3e-12	blood L-tyrosine amount (VT:0010974)		2	210678331	210678332	Human
407165387	GWAS814363_H	factor XI measurement, fibrinogen measurement, tissue plasminogen activator measurement, factor VII measurement QTL GWAS814363 (human)		2e-17	X-16570 measurement		2	210678331	210678332	Human
616557870	GWAS1954453_H	level of argininosuccinate synthase in blood QTL GWAS1954453 (human)		5e-29	level of argininosuccinate synthase in blood		2	210675783	210675784	Human
597111297	GWAS1207371_H	urate measurement QTL GWAS1207371 (human)		2e-08	phospholipids:total lipids ratio, intermediate density lipoprotein measurement		2	210675783	210675784	Human
628882658	GWAS2790887_H	circulating fibrinogen levels QTL GWAS2790887 (human)		0.0000007	circulating fibrinogen levels		2	210675783	210675784	Human
628657378	GWAS2565607_H	metabolite measurement, diet measurement QTL GWAS2565607 (human)		6e-262	eating behavior trait (VT:0001431)	food intake measurement (CMO:0000772)	2	210675783	210675784	Human
407380435	GWAS1029411_H	cinnamoylglycine measurement QTL GWAS1029411 (human)		3e-79	cinnamoylglycine measurement		2	210675783	210675784	Human
628657379	GWAS2565608_H	metabolite measurement, diet measurement QTL GWAS2565608 (human)		1e-11	eating behavior trait (VT:0001431)	food intake measurement (CMO:0000772)	2	210591229	210591230	Human
407380436	GWAS1029412_H	3-methylglutaconate measurement QTL GWAS1029412 (human)		1e-88	3-methylglutaconate measurement		2	210675783	210675784	Human
616498467	GWAS1895050_H	serum metabolite level QTL GWAS1895050 (human)		1e-17	serum metabolite level		2	210675783	210675784	Human
597144074	GWAS1240148_H	serum alanine aminotransferase measurement QTL GWAS1240148 (human)		8e-31	creatinine measurement		2	210675783	210675784	Human
628657381	GWAS2565610_H	metabolite measurement, diet measurement QTL GWAS2565610 (human)		7e-09	eating behavior trait (VT:0001431)	food intake measurement (CMO:0000772)	2	210634188	210634189	Human
407380438	GWAS1029414_H	3-methylglutarylcarnitine (2) measurement QTL GWAS1029414 (human)		9e-190	3-methylglutarylcarnitine (2) measurement		2	210675783	210675784	Human
597154358	GWAS1250432_H	creatinine measurement, diet measurement QTL GWAS1250432 (human)		0.000006	creatinine measurement, diet measurement		2	210678331	210678332	Human
628729048	GWAS2637277_H	serum metabolite level QTL GWAS2637277 (human)		4e-12	serum metabolite level		2	210678331	210678332	Human
406905315	GWAS554291_H	citrulline measurement QTL GWAS554291 (human)		3e-25	citrulline measurement		2	210564791	210564792	Human
628612308	GWAS2520537_H	serum alanine aminotransferase amount QTL GWAS2520537 (human)		1e-19	blood urea nitrogen amount		2	210675783	210675784	Human
597596730	GWAS1653590_H	glomerular filtration rate QTL GWAS1653590 (human)		5e-84	glomerular filtration rate		2	210675783	210675784	Human
407380462	GWAS1029438_H	glycine measurement QTL GWAS1029438 (human)		2e-575	glycine measurement		2	210675783	210675784	Human
597031484	GWAS1127558_H	glomerular filtration rate QTL GWAS1127558 (human)		4e-64	glomerular filtration rate		2	210675783	210675784	Human
597342771	GWAS1438845_H	osteoarthritis, knee, body mass index QTL GWAS1438845 (human)		1e-20	body size trait (VT:0100005)	body mass index (BMI) (CMO:0000105)	2	210678331	210678332	Human
597185065	GWAS1281139_H	metabolite measurement QTL GWAS1281139 (human)		9e-15	eosinophil count		2	210675783	210675784	Human
616367371	GWAS1847613_H	kidney failure QTL GWAS1847613 (human)		1e-11	NMMA measurement		2	210675783	210675784	Human
407380465	GWAS1029441_H	gamma-glutamylglycine measurement QTL GWAS1029441 (human)		2e-345	gamma-glutamylglycine measurement		2	210675783	210675784	Human
628837569	GWAS2745798_H	alkaline phosphatase measurement QTL GWAS2745798 (human)		4e-15	blood alkaline phosphatase amount (VT:0000202)	blood alkaline phosphatase activity level (CMO:0000576)	2	210675783	210675784	Human
407380467	GWAS1029443_H	metabolite measurement QTL GWAS1029443 (human)		2e-14	metabolite measurement		2	210675783	210675784	Human
616367366	GWAS1847608_H	urate measurement QTL GWAS1847608 (human)		1e-32	obsolete_serum metabolite measurement, glycine measurement		2	210678331	210678332	Human
407257595	GWAS906571_H	glomerular filtration rate QTL GWAS906571 (human)		2e-21	glomerular filtration rate		2	210538393	210538394	Human
407380361	GWAS1029337_H	N-palmitoylglycine measurement QTL GWAS1029337 (human)		4e-26	N-palmitoylglycine measurement		2	210675783	210675784	Human
407380363	GWAS1029339_H	pyroglutamine measurement QTL GWAS1029339 (human)		3e-17	pyroglutamine measurement		2	210675783	210675784	Human
597305948	GWAS1402022_H	tigloylglycine measurement QTL GWAS1402022 (human)		3e-47	tigloylglycine measurement		2	210675783	210675784	Human
596949587	GWAS1069106_H	macular telangiectasia type 2 QTL GWAS1069106 (human)		1e-15	propionylglycine measurement		2	210678331	210678332	Human
628755635	GWAS2663864_H	serum creatinine amount QTL GWAS2663864 (human)		3e-19	serum creatinine amount		2	210675783	210675784	Human
407380354	GWAS1029330_H	N-acetylglycine measurement QTL GWAS1029330 (human)		1e-341	N-acetylglycine measurement		2	210675783	210675784	Human
616508787	GWAS1905370_H	ribonuclease 4 measurement QTL GWAS1905370 (human)		3e-15	ribonuclease 4 measurement		2	210678331	210678332	Human
597039707	GWAS1135781_H	apolipoprotein A 1 measurement QTL GWAS1135781 (human)		5e-34	apolipoprotein A 1 measurement		2	210675783	210675784	Human
597314122	GWAS1410196_H	metabolite measurement QTL GWAS1410196 (human)		3e-31	metabolite measurement		2	210675783	210675784	Human
598035063	GWAS1754362_H	glomerular filtration rate QTL GWAS1754362 (human)		6e-30	glomerular filtration rate		2	210675783	210675784	Human
616512877	GWAS1909460_H	blood urea nitrogen amount QTL GWAS1909460 (human)		3e-14	blood urea nitrogen amount		2	210678331	210678332	Human
616494444	GWAS1891027_H	serum metabolite level QTL GWAS1891027 (human)		7e-11	serum metabolite level		2	210675783	210675784	Human
407093653	GWAS742629_H	urinary metabolite measurement QTL GWAS742629 (human)		8e-30	cinnamoylglycine measurement		2	210675783	210675784	Human
597305932	GWAS1402006_H	metabolite measurement QTL GWAS1402006 (human)		2e-24	metabolite measurement		2	210678331	210678332	Human
628540576	GWAS2448805_H	glycine measurement QTL GWAS2448805 (human)		3e-1655	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
407093652	GWAS742628_H	urinary metabolite measurement QTL GWAS742628 (human)		3e-24	urinary metabolite measurement		2	210675783	210675784	Human
598037116	GWAS1756415_H	cerebrospinal fluid composition attribute QTL GWAS1756415 (human)		5e-19	cerebrospinal fluid composition attribute		2	210678331	210678332	Human
407380370	GWAS1029346_H	gamma-glutamylthreonine measurement QTL GWAS1029346 (human)		6e-16	3-methylglutarylcarnitine (2) measurement		2	210675783	210675784	Human
598037118	GWAS1756417_H	cerebrospinal fluid composition attribute, N-acetylglycine measurement QTL GWAS1756417 (human)		4e-34	cerebrospinal fluid composition attribute, N-acetylglycine measurement		2	210675783	210675784	Human
628499629	GWAS2407858_H	ALDH1A1/CA3 protein level ratio in blood QTL GWAS2407858 (human)		2e-42	ALDH1A1/CA3 protein level ratio in blood		2	210675783	210675784	Human
628487342	GWAS2395571_H	blood protein amount QTL GWAS2395571 (human)		4e-14	blood protein amount		2	210498225	210498226	Human
597318214	GWAS1414288_H	X-11261 measurement QTL GWAS1414288 (human)		4e-19	X-11261 measurement		2	210675783	210675784	Human
628501675	GWAS2409904_H	appendicular lean mass QTL GWAS2409904 (human)		6e-31	body lean mass (VT:0010483)		2	210675783	210675784	Human
597820028	GWAS1687419_H	N-acetylglycine measurement QTL GWAS1687419 (human)		4e-34	N-acetylglycine measurement		2	210675783	210675784	Human
597994060	GWAS1713359_H	glomerular filtration rate QTL GWAS1713359 (human)		1e-08	blood HDL cholesterol amount (VT:0000184)	blood high density lipoprotein cholesterol level (CMO:0000052)	2	210675783	210675784	Human
407097770	GWAS746746_H	vitamin D measurement QTL GWAS746746 (human)		1e-11	NMMA measurement		2	210675783	210675784	Human
628595869	GWAS2504098_H	high density lipoprotein cholesterol measurement QTL GWAS2504098 (human)		6e-09	blood HDL cholesterol amount (VT:0000184)	blood high density lipoprotein cholesterol level (CMO:0000052)	2	210675783	210675784	Human
407359914	GWAS1008890_H	platelet count QTL GWAS1008890 (human)		5e-14	kynurenate measurement		2	210675783	210675784	Human
628409498	GWAS2317727_H	high density lipoprotein cholesterol measurement QTL GWAS2317727 (human)		3e-20	blood HDL cholesterol amount (VT:0000184)	blood high density lipoprotein cholesterol level (CMO:0000052)	2	210675783	210675784	Human
406997426	GWAS646402_H	glycine measurement QTL GWAS646402 (human)		3e-1632	glycine measurement		2	210678331	210678332	Human
597305961	GWAS1402035_H	bilirubin measurement QTL GWAS1402035 (human)		5e-24	bilirubin measurement		2	210675783	210675784	Human
597195372	GWAS1291446_H	platelet count QTL GWAS1291446 (human)		5e-14	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	2	210675783	210675784	Human
617200956	GWAS2181396_H	level of meprin A subunit alpha in blood QTL GWAS2181396 (human)		7e-23	level of meprin A subunit alpha in blood		2	210675783	210675784	Human
629003397	GWAS2911626_H	body height QTL GWAS2911626 (human)		4e-40	body height		2	210675783	210675784	Human
597185123	GWAS1281197_H	alcohol consumption measurement QTL GWAS1281197 (human)		2e-13	alcohol consumption measurement		2	210560156	210560157	Human
597271141	GWAS1367215_H	metabolite measurement QTL GWAS1367215 (human)		1e-39	metabolite measurement		2	210675783	210675784	Human
616521027	GWAS1917610_H	eosinophil count QTL GWAS1917610 (human)		4e-15	eosinophil count		2	210678331	210678332	Human
597271142	GWAS1367216_H	metabolite measurement QTL GWAS1367216 (human)		1e-31	metabolite measurement		2	210675783	210675784	Human
597334424	GWAS1430498_H	alcohol consumption measurement QTL GWAS1430498 (human)		1e-12	alcohol consumption measurement		2	210483082	210483083	Human
628381558	GWAS2301782_H	serum creatinine amount QTL GWAS2301782 (human)		2e-50	serum creatinine amount		2	210675783	210675784	Human
628496244	GWAS2404473_H	glycine measurement QTL GWAS2404473 (human)		6e-189	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
616496829	GWAS1893412_H	gamma-glutamylglycine measurement QTL GWAS1893412 (human)		0.000004	gamma-glutamylglycine measurement		2	210633608	210633609	Human
628965246	GWAS2873475_H	glomerular filtration rate QTL GWAS2873475 (human)		5e-84	glomerular filtration rate		2	210675783	210675784	Human
628758396	GWAS2666625_H	gamma-glutamylglycine measurement QTL GWAS2666625 (human)		5e-216	gamma-glutamylglycine measurement		2	210675783	210675784	Human
616496822	GWAS1893405_H	gamma-glutamylglycine measurement QTL GWAS1893405 (human)		7e-37	gamma-glutamylglycine measurement		2	210675783	210675784	Human
407366222	GWAS1015198_H	appendicular lean mass QTL GWAS1015198 (human)		6e-27	appendicular lean mass		2	210675783	210675784	Human
597828011	GWAS1695402_H	5-hydroxymethyl-2-furoylcarnitine measurement QTL GWAS1695402 (human)		9e-16	5-hydroxymethyl-2-furoylcarnitine measurement		2	210675783	210675784	Human
406954570	GWAS603546_H	platelet crit QTL GWAS603546 (human)		1e-09	blood L-phenylalanine amount (VT:0010982)	plateletcrit (CMO:0001349)	2	210678331	210678332	Human
407142991	GWAS791967_H	serum metabolite measurement QTL GWAS791967 (human)		5e-22	serum metabolite measurement		2	210675783	210675784	Human
407243341	GWAS892317_H	hexanoylglycine measurement QTL GWAS892317 (human)		9e-67	hexanoylglycine measurement		2	210675783	210675784	Human
407378499	GWAS1027475_H	blood protein measurement QTL GWAS1027475 (human)		2e-59	blood protein measurement		2	210675783	210675784	Human
598043063	GWAS1762362_H	glomerular filtration rate QTL GWAS1762362 (human)		2e-66	glomerular filtration rate		2	210675783	210675784	Human
617129690	GWAS2147189_H	platelet component distribution width QTL GWAS2147189 (human)		1e-19	platelet component distribution width		2	210678331	210678332	Human
617197274	GWAS2177714_H	natural cytotoxicity triggering receptor 3 ligand 1 measurement QTL GWAS2177714 (human)		2e-12	erythrocyte hemoglobin amount (VT:0010953)	mean corpuscular hemoglobin concentration (CMO:0000291)	2	210675783	210675784	Human
407392860	GWAS1041836_H	3-methylglutaconate measurement QTL GWAS1041836 (human)		1e-121	3-methylglutaconate measurement		2	210675783	210675784	Human
628701036	GWAS2609265_H	fibroblast growth factor 21 level QTL GWAS2609265 (human)		4e-21	fibroblast growth factor 21 level		2	210675783	210675784	Human
407399007	GWAS1047983_H	metabolite measurement QTL GWAS1047983 (human)		9e-24	metabolite measurement		2	210675783	210675784	Human
407355999	GWAS1004975_H	high density lipoprotein cholesterol measurement QTL GWAS1004975 (human)		3e-15	glomerular filtration rate		2	210675783	210675784	Human
597309827	GWAS1405901_H	metabolite measurement QTL GWAS1405901 (human)		9e-60	metabolite measurement		2	210675783	210675784	Human
407392850	GWAS1041826_H	3-methylglutarylcarnitine (2) measurement QTL GWAS1041826 (human)		7e-85	3-methylglutarylcarnitine (2) measurement		2	210675783	210675784	Human
598049210	GWAS1768509_H	serum homoarginine amount QTL GWAS1768509 (human)		6e-152	serum homoarginine amount		2	210675783	210675784	Human
628848484	GWAS2756713_H	metabolite measurement QTL GWAS2756713 (human)		2e-14	metabolite measurement		2	210675783	210675784	Human
407366246	GWAS1015222_H	vitamin D measurement QTL GWAS1015222 (human)		8e-10	metabolite measurement		2	210675783	210675784	Human
407085671	GWAS734647_H	urinary albumin to creatinine ratio QTL GWAS734647 (human)		4e-18	urine albumin amount (VT:0002871)	urine albumin level to urine creatinine level ratio (CMO:0000384)	2	210675783	210675784	Human
597262769	GWAS1358843_H	high density lipoprotein cholesterol measurement QTL GWAS1358843 (human)		8e-25	high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
597242288	GWAS1338362_H	serum metabolite measurement QTL GWAS1338362 (human)		4e-12	serum metabolite measurement		2	210678331	210678332	Human
597279152	GWAS1375226_H	N-acetylglycine measurement QTL GWAS1375226 (human)		2e-25	N-acetylglycine measurement		2	210675783	210675784	Human
407399011	GWAS1047987_H	platelet count QTL GWAS1047987 (human)		7e-47	platelet count		2	210675783	210675784	Human
597313962	GWAS1410036_H	total blood protein measurement QTL GWAS1410036 (human)		2e-22	total blood protein measurement		2	210675783	210675784	Human
597031332	GWAS1127406_H	glomerular filtration rate QTL GWAS1127406 (human)		2e-102	glomerular filtration rate		2	210675783	210675784	Human
628905805	GWAS2814034_H	serum creatinine amount QTL GWAS2814034 (human)		2e-126	serum creatinine amount		2	210675783	210675784	Human
1643053	BW117_H	Body Weight QTL 117 (human)	2.4	0.00044	Body weight		2	200715236	226715236	Human
407085684	GWAS734660_H	urinary albumin to creatinine ratio QTL GWAS734660 (human)		3e-18	urinary sodium to creatinine ratio		2	210675783	210675784	Human
597279139	GWAS1375213_H	glycine measurement QTL GWAS1375213 (human)		2e-125	glycine measurement		2	210675783	210675784	Human
597813659	GWAS1681050_H	free cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS1681050 (human)		1e-08	free cholesterol measurement, high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
628823867	GWAS2732096_H	total blood protein measurement QTL GWAS2732096 (human)		3e-26	blood protein amount (VT:0005416)	blood protein measurement (CMO:0000028)	2	210675783	210675784	Human
407159301	GWAS808277_H	serine measurement QTL GWAS808277 (human)		3e-21	serine measurement		2	210678331	210678332	Human
406997504	GWAS646480_H	glycine measurement QTL GWAS646480 (human)		2e-52	glycine measurement		2	210521760	210521761	Human
628827961	GWAS2736190_H	platelet component distribution width QTL GWAS2736190 (human)		1e-19	platelet size trait (VT:0010457)	platelet distribution width (CMO:0001350)	2	210678331	210678332	Human
597426649	GWAS1522723_H	urate measurement QTL GWAS1522723 (human)		1e-36	urate measurement		2	210675783	210675784	Human
406979076	GWAS628052_H	high density lipoprotein cholesterol measurement QTL GWAS628052 (human)		0.0000004	high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
597983715	GWAS1703014_H	erythrocyte volume QTL GWAS1703014 (human)		4e-11	metabolite measurement		2	210675783	210675784	Human
406970889	GWAS619865_H	pain QTL GWAS619865 (human)		1e-08	plasma betaine measurement		2	210678331	210678332	Human
597072348	GWAS1168422_H	creatinine measurement QTL GWAS1168422 (human)		2e-12	platelet crit		2	210678331	210678332	Human
597187026	GWAS1283100_H	X-17325 measurement QTL GWAS1283100 (human)		8e-29	tigloylglycine measurement		2	210675783	210675784	Human
598036974	GWAS1756273_H	circulating fibrinogen levels, coronary artery disease QTL GWAS1756273 (human)		2e-15	glycine measurement		2	210678331	210678332	Human
597141978	GWAS1238052_H	creatine measurement QTL GWAS1238052 (human)		3e-59	creatine measurement		2	210675783	210675784	Human
597303767	GWAS1399841_H	glomerular filtration rate QTL GWAS1399841 (human)		2e-21	glomerular filtration rate		2	210538393	210538394	Human
628684599	GWAS2592828_H	Abnormality of the skeletal system QTL GWAS2592828 (human)		4e-25	Abnormality of the skeletal system		2	210675783	210675784	Human
597279179	GWAS1375253_H	calcium measurement QTL GWAS1375253 (human)		3e-08	calcium measurement		2	210678331	210678332	Human
628834089	GWAS2742318_H	citrulline measurement QTL GWAS2742318 (human)		1e-25	blood L-citrulline amount (VT:0010986)	blood amino acid measurement (CMO:0003730)	2	210521760	210521761	Human
597993968	GWAS1713267_H	glomerular filtration rate QTL GWAS1713267 (human)		7e-117	glomerular filtration rate		2	210675783	210675784	Human
628750126	GWAS2658355_H	size QTL GWAS2658355 (human)		2e-09	size		2	210678331	210678332	Human
597586371	GWAS1643231_H	creatinine measurement QTL GWAS1643231 (human)		2e-50	creatinine measurement		2	210675783	210675784	Human
597139956	GWAS1236030_H	N-acetylglycine measurement QTL GWAS1236030 (human)		3e-135	N-acetylglycine measurement		2	210675783	210675784	Human
628971288	GWAS2879517_H	erythrocyte count QTL GWAS2879517 (human)		6e-11	erythrocyte count	red blood cell count (CMO:0000025)	2	210678331	210678332	Human
628703007	GWAS2611236_H	gamma-glutamylglycine measurement QTL GWAS2611236 (human)		1e-57	gamma-glutamylglycine measurement		2	210675783	210675784	Human
597307890	GWAS1403964_H	3-methylglutarylcarnitine (2) measurement QTL GWAS1403964 (human)		8e-65	3-methylglutarylcarnitine (2) measurement		2	210675783	210675784	Human
628760337	GWAS2668566_H	glycosyl-N-(2-hydroxynervonoyl)-sphingosine (d18:1/24:1(2OH)) measurement QTL GWAS2668566 (human)		9e-12	glycosyl-N-(2-hydroxynervonoyl)-sphingosine (d18:1/24:1(2OH)) measurement		2	210675783	210675784	Human
598092234	GWAS1811533_H	erythrocyte volume QTL GWAS1811533 (human)		7e-29	erythrocyte volume		2	210675783	210675784	Human
597137914	GWAS1233988_H	glycine measurement QTL GWAS1233988 (human)		3e-222	glycine measurement		2	210675783	210675784	Human
628576024	GWAS2484253_H	platelet count QTL GWAS2484253 (human)		0.0000002	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	2	210675783	210675784	Human
407257654	GWAS906630_H	histidine measurement QTL GWAS906630 (human)		5e-49	histidine measurement		2	210675783	210675784	Human
407394872	GWAS1043848_H	glycine measurement QTL GWAS1043848 (human)		8e-50	glycine measurement		2	210675783	210675784	Human
597271017	GWAS1367091_H	glycine measurement QTL GWAS1367091 (human)		8e-50	glycine measurement		2	210675783	210675784	Human
597189100	GWAS1285174_H	metabolite measurement QTL GWAS1285174 (human)		3e-127	metabolite measurement		2	210675783	210675784	Human
628619011	GWAS2527240_H	glomerular filtration rate QTL GWAS2527240 (human)		7e-117	glomerular filtration rate		2	210675783	210675784	Human
598026716	GWAS1746015_H	erythrocyte volume QTL GWAS1746015 (human)		5e-19	level of N-oxalylglycine in blood		2	210675783	210675784	Human
616498751	GWAS1895334_H	serum metabolite level QTL GWAS1895334 (human)		9e-116	serum metabolite level		2	210675783	210675784	Human
616367676	GWAS1847918_H	erythrocyte volume QTL GWAS1847918 (human)		1e-19	obsolete_serum alanine aminotransferase measurement		2	210675783	210675784	Human
616498750	GWAS1895333_H	serum metabolite level QTL GWAS1895333 (human)		7e-83	serum metabolite level		2	210675783	210675784	Human
628496375	GWAS2404604_H	glycine measurement QTL GWAS2404604 (human)		1e-300	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
616498745	GWAS1895328_H	serum metabolite level QTL GWAS1895328 (human)		5e-22	serum metabolite level		2	210675783	210675784	Human
597276945	GWAS1373019_H	alcohol consumption measurement QTL GWAS1373019 (human)		2e-08	alcohol consumption measurement		2	210589409	210589410	Human
628746229	GWAS2654458_H	health trait QTL GWAS2654458 (human)		9e-09	health trait		2	210675783	210675784	Human
407384773	GWAS1033749_H	X-11261 measurement QTL GWAS1033749 (human)		4e-19	X-11261 measurement		2	210675783	210675784	Human
628414457	GWAS2322686_H	urinary metabolite measurement QTL GWAS2322686 (human)		9e-23	urine molecular composition trait (VT:0001757)		2	210675783	210675784	Human
598042922	GWAS1762221_H	glomerular filtration rate QTL GWAS1762221 (human)		7e-66	glomerular filtration rate		2	210675783	210675784	Human
628602872	GWAS2511101_H	citrate measurement QTL GWAS2511101 (human)		7e-21	serum homoarginine amount		2	210675783	210675784	Human
406966993	GWAS615969_H	high density lipoprotein cholesterol measurement QTL GWAS615969 (human)		0.0000003	high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
617209432	GWAS2189872_H	level of adhesion G-protein coupled receptor G1 in blood QTL GWAS2189872 (human)		3e-18	urinary albumin to creatinine ratio		2	210675783	210675784	Human
597143811	GWAS1239885_H	creatine measurement QTL GWAS1239885 (human)		1e-24	creatine measurement		2	210678331	210678332	Human
406895317	GWAS544293_H	Hydantoin-5-propionic acid measurement QTL GWAS544293 (human)		1e-11	glomerular filtration rate		2	210678331	210678332	Human
597143810	GWAS1239884_H	N-acetylglycine measurement QTL GWAS1239884 (human)		7e-58	N-acetylglycine measurement		2	210678331	210678332	Human
628545507	GWAS2453736_H	histidine measurement QTL GWAS2453736 (human)		4e-43	blood L-hisitidine amount (VT:0010976)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
407380688	GWAS1029664_H	hexanoylglycine measurement QTL GWAS1029664 (human)		1e-85	hexanoylglycine measurement		2	210675783	210675784	Human
407380689	GWAS1029665_H	serum homoarginine measurement QTL GWAS1029665 (human)		6e-152	serum homoarginine measurement		2	210675783	210675784	Human
597307651	GWAS1403725_H	3-methylglutarylcarnitine (2) measurement QTL GWAS1403725 (human)		7e-61	3-methylglutarylcarnitine (2) measurement		2	210675783	210675784	Human
616508966	GWAS1905549_H	level of Xaa-Pro dipeptidase in blood QTL GWAS1905549 (human)		7e-22	level of Xaa-Pro dipeptidase in blood		2	210675783	210675784	Human
407354077	GWAS1003053_H	carnitine measurement QTL GWAS1003053 (human)		3e-91	carnitine measurement		2	210675783	210675784	Human
597307648	GWAS1403722_H	3-methylglutaconate measurement QTL GWAS1403722 (human)		3e-70	3-methylglutaconate measurement		2	210675783	210675784	Human
597307649	GWAS1403723_H	metabolite measurement QTL GWAS1403723 (human)		1e-74	metabolite measurement		2	210678331	210678332	Human
597596421	GWAS1653281_H	creatinine measurement QTL GWAS1653281 (human)		1e-81	creatinine measurement		2	210675783	210675784	Human
598042937	GWAS1762236_H	serum creatinine amount QTL GWAS1762236 (human)		6e-95	serum creatinine amount		2	210675783	210675784	Human
407141082	GWAS790058_H	serum metabolite measurement QTL GWAS790058 (human)		7e-11	serum metabolite measurement		2	210675783	210675784	Human
597143817	GWAS1239891_H	serine measurement QTL GWAS1239891 (human)		3e-21	serine measurement		2	210678331	210678332	Human
628500457	GWAS2408686_H	appendicular lean mass QTL GWAS2408686 (human)		6e-27	body lean mass (VT:0010483)		2	210675783	210675784	Human
597819650	GWAS1687041_H	diet measurement QTL GWAS1687041 (human)		0.000006	diet measurement		2	210678331	210678332	Human
597160246	GWAS1256320_H	ergothioneine measurement QTL GWAS1256320 (human)		0.000008	ergothioneine measurement		2	210641762	210641763	Human
628758489	GWAS2666718_H	3-hydroxybutyroylglycine measurement QTL GWAS2666718 (human)		6e-99	3-hydroxybutyroylglycine measurement		2	210675783	210675784	Human
598032641	GWAS1751940_H	trait in response to warfarin QTL GWAS1751940 (human)		0.000008	trait in response to warfarin		2	210541483	210541484	Human
597434677	GWAS1530751_H	cerebrospinal fluid biomarker measurement QTL GWAS1530751 (human)		5e-19	cerebrospinal fluid biomarker measurement		2	210678331	210678332	Human
628762576	GWAS2670805_H	5-methylthioadenosine (MTA) measurement QTL GWAS2670805 (human)		5e-11	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	210675783	210675784	Human
407395046	GWAS1044022_H	platelet count QTL GWAS1044022 (human)		9e-14	platelet count		2	210675783	210675784	Human
598065418	GWAS1784717_H	cerebral cortex area attribute QTL GWAS1784717 (human)		2e-08	cerebral cortex area attribute		2	210597156	210597157	Human
597979408	GWAS1698707_H	circulating fibrinogen levels QTL GWAS1698707 (human)		9e-14	body size trait (VT:0100005)	body mass index (BMI) (CMO:0000105)	2	210678331	210678332	Human
596963617	GWAS1083136_H	phenylalanine measurement QTL GWAS1083136 (human)		3e-11	vitamin B12 measurement		2	210675783	210675784	Human
628760524	GWAS2668753_H	glycine measurement QTL GWAS2668753 (human)		4e-15	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210617549	210617550	Human
628760525	GWAS2668754_H	glycine measurement QTL GWAS2668754 (human)		1e-200	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
597328162	GWAS1424236_H	3-methylglutaconate measurement QTL GWAS1424236 (human)		1e-121	3-methylglutaconate measurement		2	210675783	210675784	Human
628750272	GWAS2658501_H	Chronic pain QTL GWAS2658501 (human)		1e-08	Chronic pain		2	210559053	210559054	Human
628613066	GWAS2521295_H	venous thromboembolism, circulating fibrinogen levels QTL GWAS2521295 (human)		3e-19	blood integrity trait (VT:0010779)		2	210678331	210678332	Human
597328165	GWAS1424239_H	3-methylglutarylcarnitine (2) measurement QTL GWAS1424239 (human)		7e-85	3-methylglutarylcarnitine (2) measurement		2	210675783	210675784	Human
628848571	GWAS2756800_H	3-methylglutaconate measurement QTL GWAS2756800 (human)		1e-88	3-methylglutaconate measurement		2	210675783	210675784	Human
597231960	GWAS1328034_H	blood protein measurement QTL GWAS1328034 (human)		4e-17	blood protein measurement		2	210675783	210675784	Human
597987685	GWAS1706984_H	circulating fibrinogen levels QTL GWAS1706984 (human)		2e-11	erythrocyte size trait (VT:0000248)	red blood cell distribution width- standard deviation (CMO:0003232)	2	210678331	210678332	Human
597305688	GWAS1401762_H	N-acetylglycine measurement QTL GWAS1401762 (human)		3e-58	N-acetylglycine measurement		2	210675783	210675784	Human
628414390	GWAS2322619_H	urinary metabolite measurement QTL GWAS2322619 (human)		7e-18	urine molecular composition trait (VT:0001757)		2	210675783	210675784	Human
616515188	GWAS1911771_H	creatine amount QTL GWAS1911771 (human)		2e-30	creatine amount		2	210678331	210678332	Human
597584210	GWAS1641070_H	mean corpuscular volume QTL GWAS1641070 (human)		1e-11	vitamin D measurement		2	210675783	210675784	Human
628404152	GWAS2312381_H	erythrocyte volume QTL GWAS2312381 (human)		2e-47	blood urea nitrogen amount		2	210675783	210675784	Human
628414394	GWAS2322623_H	urinary metabolite measurement QTL GWAS2322623 (human)		1e-25	urine molecular composition trait (VT:0001757)		2	210675783	210675784	Human
628758452	GWAS2666681_H	isobutyrylglycine measurement QTL GWAS2666681 (human)		2e-38	isobutyrylglycine measurement		2	210675783	210675784	Human
628858805	GWAS2767034_H	X-17367 measurement QTL GWAS2767034 (human)		4e-97	X-17367 measurement		2	210675783	210675784	Human
628414395	GWAS2322624_H	urinary metabolite measurement QTL GWAS2322624 (human)		4e-12	arterial blood pressure trait (VT:2000000)	diastolic blood pressure (CMO:0000005)	2	210675783	210675784	Human
407253655	GWAS902631_H	metabolite measurement QTL GWAS902631 (human)		3e-127	metabolite measurement		2	210675783	210675784	Human
597305672	GWAS1401746_H	tigloylglycine measurement QTL GWAS1401746 (human)		7e-15	cerebrospinal fluid biomarker measurement, glycine measurement		2	210675783	210675784	Human
597139780	GWAS1235854_H	glycine measurement QTL GWAS1235854 (human)		2e-575	glycine measurement		2	210675783	210675784	Human
628795311	GWAS2703540_H	alcohol consumption quality QTL GWAS2703540 (human)		2e-13	alcohol consumption quality		2	210560156	210560157	Human
628602799	GWAS2511028_H	glutamine measurement QTL GWAS2511028 (human)		2e-08	blood L-glutamine amount (VT:0010972)	blood amino acid measurement (CMO:0003730)	2	210554166	210554167	Human
597211457	GWAS1307531_H	glycine measurement QTL GWAS1307531 (human)		1e-300	glycine measurement		2	210675783	210675784	Human
616367715	GWAS1847957_H	serum creatinine amount QTL GWAS1847957 (human)		8e-31	lipoprotein A measurement		2	210675783	210675784	Human
628930467	GWAS2838696_H	uric acid measurement QTL GWAS2838696 (human)		3e-17	blood uric acid amount (VT:0010302)	blood uric acid level (CMO:0000501)	2	210678331	210678332	Human
407360165	GWAS1009141_H	lean body mass QTL GWAS1009141 (human)		3e-23	lean body mass		2	210675783	210675784	Human
616529499	GWAS1926082_H	mean corpuscular hemoglobin QTL GWAS1926082 (human)		4e-28	mean corpuscular hemoglobin		2	210675783	210675784	Human
628414352	GWAS2322581_H	urinary metabolite measurement QTL GWAS2322581 (human)		3e-24	urine molecular composition trait (VT:0001757)		2	210675783	210675784	Human
628414353	GWAS2322582_H	urinary metabolite measurement QTL GWAS2322582 (human)		8e-30	urine molecular composition trait (VT:0001757)		2	210675783	210675784	Human
407384750	GWAS1033726_H	X-17367 measurement QTL GWAS1033726 (human)		4e-97	X-17367 measurement		2	210675783	210675784	Human
407384751	GWAS1033727_H	X-21467 measurement QTL GWAS1033727 (human)		1e-37	X-21467 measurement		2	210675783	210675784	Human
598016333	GWAS1735632_H	red blood cell density QTL GWAS1735632 (human)		3e-11	blood L-serine amount (VT:0010966)	blood amino acid measurement (CMO:0003730)	2	210678331	210678332	Human
597184882	GWAS1280956_H	cinnamoylglycine measurement QTL GWAS1280956 (human)		2e-36	urate measurement		2	210675783	210675784	Human
407067311	GWAS716287_H	N-acetylthreonine measurement QTL GWAS716287 (human)		5e-13	N-acetylthreonine measurement		2	210678331	210678332	Human
617121317	GWAS2138816_H	eosinophil count QTL GWAS2138816 (human)		4e-15	eosinophil count		2	210678331	210678332	Human
1643254	BW125_H	Body Weight QTL 125 (human)	1.45	0.005	Body weight	body mass index	2	200715236	226715236	Human
616562254	GWAS1958837_H	protein turtle homolog A measurement QTL GWAS1958837 (human)		8e-24	protein turtle homolog A measurement		2	210675783	210675784	Human
628864906	GWAS2773135_H	serum homoarginine amount QTL GWAS2773135 (human)		5e-47	serum homoarginine amount		2	210675783	210675784	Human
597186922	GWAS1282996_H	creatine measurement QTL GWAS1282996 (human)		2e-41	uric acid measurement		2	210675783	210675784	Human
616361550	GWAS1846265_H	cystatin C measurement QTL GWAS1846265 (human)		2e-25	cystatin C measurement		2	210675783	210675784	Human
598065494	GWAS1784793_H	brain attribute QTL GWAS1784793 (human)		5e-14	brain attribute		2	210597156	210597157	Human
628916105	GWAS2824334_H	high density lipoprotein cholesterol measurement QTL GWAS2824334 (human)		2e-15	blood HDL cholesterol amount (VT:0000184)	blood high density lipoprotein cholesterol level (CMO:0000052)	2	210675783	210675784	Human
597184879	GWAS1280953_H	3-methylglutaconate measurement QTL GWAS1280953 (human)		2e-123	3-methylglutaconate measurement		2	210675783	210675784	Human
406901433	GWAS550409_H	arginine measurement QTL GWAS550409 (human)		4e-14	arginine measurement		2	210678331	210678332	Human
616570427	GWAS1967010_H	Ly6/PLAUR domain-containing protein 3 measurement QTL GWAS1967010 (human)		7e-19	Ly6/PLAUR domain-containing protein 3 measurement		2	210675783	210675784	Human
628414351	GWAS2322580_H	urinary metabolite measurement QTL GWAS2322580 (human)		2e-16	urine molecular composition trait (VT:0001757)		2	210675783	210675784	Human
628369295	GWAS2290139_H	creatine level QTL GWAS2290139 (human)		3e-59	creatine level		2	210675783	210675784	Human
407196345	GWAS845321_H	threonine measurement QTL GWAS845321 (human)		4e-17	threonine measurement		2	210678331	210678332	Human
616498755	GWAS1895338_H	serum metabolite level QTL GWAS1895338 (human)		2e-40	serum metabolite level		2	210675783	210675784	Human
616498754	GWAS1895337_H	serum metabolite level QTL GWAS1895337 (human)		3e-27	serum metabolite level		2	210675783	210675784	Human
616498753	GWAS1895336_H	serum metabolite level QTL GWAS1895336 (human)		3e-64	serum metabolite level		2	210675783	210675784	Human
616498752	GWAS1895335_H	serum metabolite level QTL GWAS1895335 (human)		7e-25	serum metabolite level		2	210675783	210675784	Human
628375435	GWAS2295659_H	lean body mass QTL GWAS2295659 (human)		1e-13	blood HDL cholesterol amount (VT:0000184)	blood high density lipoprotein cholesterol level (CMO:0000052)	2	210675783	210675784	Human
407366471	GWAS1015447_H	blood protein measurement QTL GWAS1015447 (human)		4e-17	blood protein measurement		2	210675783	210675784	Human
407063361	GWAS712337_H	2-methylserine measurement QTL GWAS712337 (human)		2e-19	plasma betaine measurement		2	210678331	210678332	Human
616531901	GWAS1928484_H	chitinase-3-like protein 1 measurement QTL GWAS1928484 (human)		6e-17	chitinase-3-like protein 1 measurement		2	210675783	210675784	Human
597115027	GWAS1211101_H	systolic blood pressure QTL GWAS1211101 (human)		1e-14	metabolite measurement		2	210675783	210675784	Human
598016161	GWAS1735460_H	platelet volume QTL GWAS1735460 (human)		6e-37	platelet volume		2	210675783	210675784	Human
407397197	GWAS1046173_H	metabolite measurement QTL GWAS1046173 (human)		8e-14	metabolite measurement		2	210675783	210675784	Human
597319827	GWAS1415901_H	N-acetylglycine measurement QTL GWAS1415901 (human)		1e-341	N-acetylglycine measurement		2	210675783	210675784	Human
407214920	GWAS863896_H	creatinine measurement QTL GWAS863896 (human)		3e-19	creatinine measurement		2	210675783	210675784	Human
598042805	GWAS1762104_H	serum creatinine amount QTL GWAS1762104 (human)		1e-81	serum creatinine amount		2	210675783	210675784	Human
628846187	GWAS2754416_H	X-17325 measurement QTL GWAS2754416 (human)		2e-57	X-17325 measurement		2	210675783	210675784	Human
597143684	GWAS1239758_H	glycine measurement QTL GWAS1239758 (human)		2e-147	glycine measurement		2	210678331	210678332	Human
597186699	GWAS1282773_H	5-methylthioadenosine (MTA) measurement QTL GWAS1282773 (human)		5e-11	5-methylthioadenosine (MTA) measurement		2	210675783	210675784	Human
597211276	GWAS1307350_H	glycine measurement QTL GWAS1307350 (human)		6e-189	glycine measurement		2	210675783	210675784	Human
597041283	GWAS1137357_H	glycine measurement, amino acid measurement QTL GWAS1137357 (human)		2e-75	glycine measurement, amino acid measurement		2	210678331	210678332	Human
407157587	GWAS806563_H	N-acetylglycine measurement QTL GWAS806563 (human)		7e-58	N-acetylglycine measurement		2	210678331	210678332	Human
597141632	GWAS1237706_H	pyroglutamine measurement QTL GWAS1237706 (human)		3e-17	pyroglutamine measurement		2	210675783	210675784	Human
597598342	GWAS1655202_H	mean corpuscular hemoglobin concentration QTL GWAS1655202 (human)		9e-18	mean corpuscular hemoglobin concentration		2	210675783	210675784	Human
407157593	GWAS806569_H	creatine measurement QTL GWAS806569 (human)		1e-24	creatine measurement		2	210678331	210678332	Human
597291143	GWAS1387217_H	size QTL GWAS1387217 (human)		2e-09	size		2	210678331	210678332	Human
597031090	GWAS1127164_H	blood protein measurement QTL GWAS1127164 (human)		4e-14	blood protein measurement		2	210498225	210498226	Human
628969050	GWAS2877279_H	leukocyte quantity QTL GWAS2877279 (human)		5e-21	leukocyte quantity		2	210675783	210675784	Human
628381276	GWAS2301500_H	soluble transferrin receptor measurement QTL GWAS2301500 (human)		2e-08	soluble transferrin receptor measurement		2	210678331	210678332	Human
628866643	GWAS2774872_H	N-acetylglycine measurement QTL GWAS2774872 (human)		3e-135	N-acetylglycine measurement		2	210675783	210675784	Human
617129953	GWAS2147452_H	total blood protein measurement QTL GWAS2147452 (human)		3e-26	total blood protein measurement		2	210675783	210675784	Human
407319404	GWAS968380_H	myeloid white cell count QTL GWAS968380 (human)		2e-26	2-butenoylglycine measurement		2	210675783	210675784	Human
597999752	GWAS1719051_H	cerebral cortex area attribute QTL GWAS1719051 (human)		6e-09	cerebral cortex area attribute		2	210597156	210597157	Human
616482704	GWAS1879287_H	blood protein amount QTL GWAS1879287 (human)		1e-16	blood protein amount		2	210675783	210675784	Human
407219061	GWAS868037_H	3-methylglutaconate measurement QTL GWAS868037 (human)		2e-123	3-methylglutaconate measurement		2	210675783	210675784	Human
616511375	GWAS1907958_H	creatine amount QTL GWAS1907958 (human)		3e-59	creatine amount		2	210675783	210675784	Human
597983381	GWAS1702680_H	erythrocyte volume QTL GWAS1702680 (human)		9e-41	erythrocyte volume		2	210675783	210675784	Human
597516462	GWAS1612536_H	color vision disorder QTL GWAS1612536 (human)		0.000009	color vision disorder		2	210673731	210673732	Human
597080224	GWAS1176298_H	mean corpuscular volume QTL GWAS1176298 (human)		1e-28	serine measurement		2	210675783	210675784	Human
598036636	GWAS1755935_H	cerebrospinal fluid composition attribute, glycine measurement QTL GWAS1755935 (human)		7e-15	cerebrospinal fluid composition attribute, glycine measurement		2	210675783	210675784	Human
407096185	GWAS745161_H	guanidinosuccinate measurement QTL GWAS745161 (human)		5e-14	guanidinosuccinate measurement		2	210678331	210678332	Human
597295265	GWAS1391339_H	L-arginine measurement QTL GWAS1391339 (human)		1e-22	L-arginine measurement		2	210678331	210678332	Human
407090047	GWAS739023_H	creatinine measurement QTL GWAS739023 (human)		2e-12	platelet crit		2	210678331	210678332	Human
628702788	GWAS2611017_H	metabolite measurement QTL GWAS2611017 (human)		5e-18	platelet quantity (VT:0003179)	plateletcrit (CMO:0001349)	2	210678331	210678332	Human
628702790	GWAS2611019_H	metabolite measurement QTL GWAS2611019 (human)		1e-26	metabolite measurement		2	210678331	210678332	Human
407397129	GWAS1046105_H	metabolite measurement QTL GWAS1046105 (human)		7e-73	metabolite measurement		2	210675783	210675784	Human
407397130	GWAS1046106_H	isovalerylglycine measurement QTL GWAS1046106 (human)		4e-34	isovalerylglycine measurement		2	210675783	210675784	Human
628551218	GWAS2459447_H	level of bone marrow proteoglycan in blood QTL GWAS2459447 (human)		1e-18	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
628577841	GWAS2486070_H	platelet count QTL GWAS2486070 (human)		0.000002	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	2	210675783	210675784	Human
616380402	GWAS1860644_H	obsolete_blood protein measurement QTL GWAS1860644 (human)		4e-14	obsolete_blood protein measurement		2	210498225	210498226	Human
407171860	GWAS820836_H	obsolete_red blood cell distribution width QTL GWAS820836 (human)		3e-11	N-acetylaspartic acid measurement		2	210675783	210675784	Human
406967059	GWAS616035_H	high density lipoprotein cholesterol measurement QTL GWAS616035 (human)		9e-10	high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
407173910	GWAS822886_H	lymphocyte count QTL GWAS822886 (human)		2e-10	alanine measurement		2	210675783	210675784	Human
616376302	GWAS1856544_H	obsolete_serum metabolite measurement QTL GWAS1856544 (human)		1e-17	obsolete_serum metabolite measurement		2	210675783	210675784	Human
597108930	GWAS1205004_H	Red cell distribution width QTL GWAS1205004 (human)		3e-11	fatty acid amount (VT:0010046)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
628706860	GWAS2615089_H	X-17367 measurement QTL GWAS2615089 (human)		6e-20	X-17367 measurement		2	210675783	210675784	Human
597317830	GWAS1413904_H	X-17325 measurement QTL GWAS1413904 (human)		2e-57	X-17325 measurement		2	210675783	210675784	Human
407055133	GWAS704109_H	eosinophil count QTL GWAS704109 (human)		3e-16	eosinophil count		2	210678331	210678332	Human
597149897	GWAS1245971_H	systolic blood pressure QTL GWAS1245971 (human)		1e-09	cholesterol:total lipids ratio, low density lipoprotein cholesterol measurement		2	210675783	210675784	Human
616558560	GWAS1955143_H	Abnormality of the skeletal system QTL GWAS1955143 (human)		4e-25	Abnormality of the skeletal system		2	210675783	210675784	Human
616368094	GWAS1848336_H	serine measurement QTL GWAS1848336 (human)		1e-42	obsolete_serum metabolite measurement		2	210675783	210675784	Human
597307647	GWAS1403721_H	3-methylglutaconate measurement QTL GWAS1403721 (human)		4e-57	3-methylglutaconate measurement		2	210675783	210675784	Human
628409875	GWAS2318104_H	urinary metabolite measurement QTL GWAS2318104 (human)		7e-17	urine molecular composition trait (VT:0001757)		2	210675783	210675784	Human
407319340	GWAS968316_H	mean platelet volume QTL GWAS968316 (human)		6e-37	mean platelet volume		2	210675783	210675784	Human
616368081	GWAS1848323_H	serine measurement QTL GWAS1848323 (human)		2e-50	serine measurement		2	210675783	210675784	Human
628403737	GWAS2311966_H	erythrocyte volume QTL GWAS2311966 (human)		9e-41	erythrocyte volume		2	210675783	210675784	Human
616368083	GWAS1848325_H	metabolite measurement QTL GWAS1848325 (human)		8e-10	metabolite measurement		2	210675783	210675784	Human
597088486	GWAS1184560_H	serum metabolite measurement QTL GWAS1184560 (human)		7e-11	serum metabolite measurement		2	210675783	210675784	Human
628708873	GWAS2617102_H	2-methylserine measurement QTL GWAS2617102 (human)		2e-19	plasma betaine measurement		2	210678331	210678332	Human
597264618	GWAS1360692_H	fibrinogen measurement QTL GWAS1360692 (human)		0.0000007	fibrinogen measurement		2	210675783	210675784	Human
616368078	GWAS1848320_H	X-17325 measurement QTL GWAS1848320 (human)		1e-16	metabolite measurement		2	210675783	210675784	Human
407419710	GWAS1068686_H	pulse pressure measurement QTL GWAS1068686 (human)		5e-09	pulse pressure measurement		2	210675783	210675784	Human
407171900	GWAS820876_H	platelet count QTL GWAS820876 (human)		7e-34	platelet count		2	210675783	210675784	Human
407356221	GWAS1005197_H	high density lipoprotein cholesterol measurement QTL GWAS1005197 (human)		6e-09	high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
628536843	GWAS2445072_H	chitinase-3-like protein 1 measurement QTL GWAS2445072 (human)		6e-17	serum alanine aminotransferase amount		2	210675783	210675784	Human
597057768	GWAS1153842_H	eosinophil count QTL GWAS1153842 (human)		3e-16	eosinophil count		2	210678331	210678332	Human
597108969	GWAS1205043_H	urate measurement QTL GWAS1205043 (human)		6e-11	X-24757 measurement		2	210675783	210675784	Human
406969281	GWAS618257_H	protein measurement QTL GWAS618257 (human)		5e-22	protein measurement		2	210481327	210481328	Human
407159750	GWAS808726_H	glycine measurement QTL GWAS808726 (human)		2e-147	glycine measurement		2	210678331	210678332	Human
407200711	GWAS849687_H	human papilloma virus infection, oropharynx cancer QTL GWAS849687 (human)		0.000004	human papilloma virus infection, oropharynx cancer		2	210483300	210483301	Human
597094421	GWAS1190495_H	urinary metabolite measurement QTL GWAS1190495 (human)		3e-25	urine molecular composition trait (VT:0001757)		2	210678331	210678332	Human
407266242	GWAS915218_H	citrulline measurement QTL GWAS915218 (human)		1e-25	citrulline measurement		2	210521760	210521761	Human
597813284	GWAS1680675_H	glutaroyl carnitine measurement QTL GWAS1680675 (human)		4e-16	glutaroyl carnitine measurement		2	210678331	210678332	Human
597207071	GWAS1303145_H	vitamin D measurement QTL GWAS1303145 (human)		8e-10	metabolite measurement		2	210675783	210675784	Human
628360952	GWAS2281796_H	uric acid measurement QTL GWAS2281796 (human)		2e-41	pyroglutamine measurement		2	210675783	210675784	Human
597983273	GWAS1702572_H	erythrocyte volume QTL GWAS1702572 (human)		2e-47	blood urea nitrogen measurement		2	210675783	210675784	Human
597184534	GWAS1280608_H	X-25420 measurement QTL GWAS1280608 (human)		2e-14	X-25420 measurement		2	210678331	210678332	Human
616380205	GWAS1860447_H	obsolete_serum alanine aminotransferase measurement QTL GWAS1860447 (human)		6e-18	obsolete_serum alanine aminotransferase measurement		2	210675783	210675784	Human
628369127	GWAS2289971_H	creatine level QTL GWAS2289971 (human)		2e-30	creatine level		2	210678331	210678332	Human
628707050	GWAS2615279_H	metabolite measurement QTL GWAS2615279 (human)		8e-14	metabolite measurement		2	210675783	210675784	Human
597141507	GWAS1237581_H	arginine measurement QTL GWAS1237581 (human)		4e-14	arginine measurement		2	210678331	210678332	Human
616367913	GWAS1848155_H	high density lipoprotein cholesterol measurement QTL GWAS1848155 (human)		8e-17	obsolete_serum metabolite measurement		2	210675783	210675784	Human
597207053	GWAS1303127_H	urate measurement QTL GWAS1303127 (human)		0.000001	urate measurement		2	210675783	210675784	Human
407266256	GWAS915232_H	histidine measurement QTL GWAS915232 (human)		6e-27	histidine measurement		2	210678331	210678332	Human
597325827	GWAS1421901_H	pain QTL GWAS1421901 (human)		5e-10	pain		2	210490771	210490772	Human
407174111	GWAS823087_H	platelet count QTL GWAS823087 (human)		2e-52	platelet count		2	210675783	210675784	Human
628651747	GWAS2559976_H	glutamine measurement QTL GWAS2559976 (human)		3e-10	blood L-glutamine amount (VT:0010972)	blood amino acid measurement (CMO:0003730)	2	210502371	210502372	Human
407069663	GWAS718639_H	blood urea nitrogen measurement QTL GWAS718639 (human)		1e-15	blood urea nitrogen measurement		2	210675783	210675784	Human
407395286	GWAS1044262_H	gamma-glutamylglycine measurement QTL GWAS1044262 (human)		1e-57	gamma-glutamylglycine measurement		2	210675783	210675784	Human
597086262	GWAS1182336_H	serum metabolite measurement QTL GWAS1182336 (human)		9e-116	serum metabolite measurement		2	210675783	210675784	Human
597086263	GWAS1182337_H	serum metabolite measurement QTL GWAS1182337 (human)		7e-25	serum metabolite measurement		2	210675783	210675784	Human
597086261	GWAS1182335_H	serum metabolite measurement QTL GWAS1182335 (human)		7e-83	serum metabolite measurement		2	210675783	210675784	Human
407354338	GWAS1003314_H	phospholipids:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS1003314 (human)		2e-08	urate measurement		2	210675783	210675784	Human
628760287	GWAS2668516_H	3-methylglutaconate measurement QTL GWAS2668516 (human)		2e-123	3-methylglutaconate measurement		2	210675783	210675784	Human
407280609	GWAS929585_H	phospholipid measurement, high density lipoprotein cholesterol measurement QTL GWAS929585 (human)		3e-08	phospholipid measurement, high density lipoprotein cholesterol measurement		2	210645804	210645805	Human
597028914	GWAS1124988_H	high density lipoprotein cholesterol measurement QTL GWAS1124988 (human)		9e-10	high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
597317693	GWAS1413767_H	X-16570 measurement QTL GWAS1413767 (human)		8e-195	X-16570 measurement		2	210675783	210675784	Human
597129279	GWAS1225353_H	mean corpuscular volume QTL GWAS1225353 (human)		1e-20	mean corpuscular volume		2	210675783	210675784	Human
628760274	GWAS2668503_H	metabolite measurement QTL GWAS2668503 (human)		9e-15	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	2	210675783	210675784	Human
598042636	GWAS1761935_H	glomerular filtration rate QTL GWAS1761935 (human)		5e-84	glomerular filtration rate		2	210675783	210675784	Human
406952939	GWAS601915_H	alcohol consumption measurement, high density lipoprotein cholesterol measurement QTL GWAS601915 (human)		5e-16	alcohol consumption measurement, high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
597086268	GWAS1182342_H	serum metabolite measurement QTL GWAS1182342 (human)		2e-40	serum metabolite measurement		2	210675783	210675784	Human
628672210	GWAS2580439_H	N-palmitoylglycine measurement QTL GWAS2580439 (human)		9e-69	N-palmitoylglycine measurement		2	210675783	210675784	Human
597086269	GWAS1182343_H	serum metabolite measurement QTL GWAS1182343 (human)		8e-17	high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
407067631	GWAS716607_H	glomerular filtration rate QTL GWAS716607 (human)		4e-64	glomerular filtration rate		2	210675783	210675784	Human
597086266	GWAS1182340_H	serum metabolite measurement QTL GWAS1182340 (human)		2e-50	serine measurement		2	210675783	210675784	Human
597086267	GWAS1182341_H	serum metabolite measurement QTL GWAS1182341 (human)		3e-27	serum metabolite measurement		2	210675783	210675784	Human
597086264	GWAS1182338_H	serum metabolite measurement QTL GWAS1182338 (human)		3e-64	serum metabolite measurement		2	210675783	210675784	Human
597813263	GWAS1680654_H	Hydantoin-5-propionic acid measurement QTL GWAS1680654 (human)		1e-11	Hydantoin-5-propionic acid measurement		2	210678331	210678332	Human
407294953	GWAS943929_H	urinary potassium to creatinine ratio QTL GWAS943929 (human)		1e-27	hexanoylglycine measurement		2	210675783	210675784	Human
597086265	GWAS1182339_H	serum metabolite measurement QTL GWAS1182339 (human)		1e-42	serine measurement		2	210675783	210675784	Human
596975652	GWAS1095171_H	glomerular filtration rate QTL GWAS1095171 (human)		4e-18	glomerular filtration rate		2	210678331	210678332	Human
598032407	GWAS1751706_H	glomerular filtration rate QTL GWAS1751706 (human)		4e-18	glomerular filtration rate		2	210678331	210678332	Human
407383035	GWAS1032011_H	gamma-glutamylglycine measurement QTL GWAS1032011 (human)		9e-22	gamma-glutamylglycine measurement		2	210675783	210675784	Human
597813269	GWAS1680660_H	serine measurement QTL GWAS1680660 (human)		1e-28	serine measurement		2	210675783	210675784	Human
628924104	GWAS2832333_H	serum creatinine amount QTL GWAS2832333 (human)		2e-19	serum creatinine amount		2	210675783	210675784	Human
597295151	GWAS1391225_H	serine measurement QTL GWAS1391225 (human)		6e-84	serine measurement		2	210678331	210678332	Human
597065772	GWAS1161846_H	glomerular filtration rate QTL GWAS1161846 (human)		1e-11	Hydantoin-5-propionic acid measurement		2	210678331	210678332	Human
628864705	GWAS2772934_H	metabolite measurement QTL GWAS2772934 (human)		5e-20	metabolite measurement		2	210675783	210675784	Human
407325689	GWAS974665_H	sex hormone-binding globulin measurement QTL GWAS974665 (human)		1e-21	creatinine measurement		2	210675783	210675784	Human
596953130	GWAS1072649_H	size QTL GWAS1072649 (human)		2e-09	size		2	210678331	210678332	Human
597813279	GWAS1680670_H	serine measurement QTL GWAS1680670 (human)		3e-11	erythrocyte count		2	210678331	210678332	Human
407047042	GWAS696018_H	metabolite measurement, diet measurement QTL GWAS696018 (human)		7e-09	metabolite measurement, diet measurement		2	210634188	210634189	Human
407393161	GWAS1042137_H	N-palmitoylglycine measurement QTL GWAS1042137 (human)		9e-69	N-palmitoylglycine measurement		2	210675783	210675784	Human
407047040	GWAS696016_H	metabolite measurement, diet measurement QTL GWAS696016 (human)		1e-11	metabolite measurement, diet measurement		2	210591229	210591230	Human
597141587	GWAS1237661_H	plasma betaine measurement QTL GWAS1237661 (human)		9e-48	plasma betaine measurement		2	210675783	210675784	Human
407088005	GWAS736981_H	apolipoprotein A 1 measurement QTL GWAS736981 (human)		5e-34	apolipoprotein A 1 measurement		2	210675783	210675784	Human
626452113	GWAS2266046_H	serum alanine aminotransferase amount QTL GWAS2266046 (human)		6e-17	serum alanine aminotransferase amount		2	210675783	210675784	Human
407088011	GWAS736987_H	urinary metabolite measurement QTL GWAS736987 (human)		7e-17	urinary metabolite measurement		2	210675783	210675784	Human
597153886	GWAS1249960_H	cholesterol:total lipids ratio, intermediate density lipoprotein measurement QTL GWAS1249960 (human)		7e-10	cholesterol:total lipids ratio, intermediate density lipoprotein measurement		2	210675783	210675784	Human
597282896	GWAS1378970_H	glycine measurement QTL GWAS1378970 (human)		3e-1655	glycine measurement		2	210675783	210675784	Human
597211218	GWAS1307292_H	albuminuria QTL GWAS1307292 (human)		4e-08	kidney integrity trait (VT:0010580)	blood uric acid level (CMO:0000501)	2	210675783	210675784	Human
628610748	GWAS2518977_H	ergothioneine measurement QTL GWAS2518977 (human)		0.000008	ergothioneine measurement		2	210641762	210641763	Human
628704949	GWAS2613178_H	hexanoylglycine measurement QTL GWAS2613178 (human)		3e-62	hexanoylglycine measurement		2	210675783	210675784	Human
597078085	GWAS1174159_H	serum metabolite measurement QTL GWAS1174159 (human)		2e-20	neutrophil count		2	210675783	210675784	Human
616474477	GWAS1871060_H	serum alanine aminotransferase amount QTL GWAS1871060 (human)		6e-18	reticulon-4 receptor measurement		2	210675783	210675784	Human
407395229	GWAS1044205_H	X-17367 measurement QTL GWAS1044205 (human)		6e-20	X-17367 measurement		2	210675783	210675784	Human
407174034	GWAS823010_H	mean platelet volume QTL GWAS823010 (human)		4e-46	blood protein measurement		2	210675783	210675784	Human
407397278	GWAS1046254_H	glomerular filtration rate QTL GWAS1046254 (human)		1e-158	glomerular filtration rate		2	210675783	210675784	Human
597329997	GWAS1426071_H	3-hydroxybutyroylglycine measurement QTL GWAS1426071 (human)		2e-33	3-hydroxybutyroylglycine measurement		2	210675783	210675784	Human
597129295	GWAS1225369_H	cortical surface area measurement QTL GWAS1225369 (human)		6e-09	cortical surface area measurement		2	210597156	210597157	Human
407055258	GWAS704234_H	glomerular filtration rate QTL GWAS704234 (human)		1e-08	free cholesterol measurement, high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
407184284	GWAS833260_H	fibrinogen measurement QTL GWAS833260 (human)		0.0000007	fibrinogen measurement		2	210675783	210675784	Human
597088332	GWAS1184406_H	red blood cell density measurement QTL GWAS1184406 (human)		3e-11	erythrocyte count		2	210678331	210678332	Human
616521572	GWAS1918155_H	serum creatinine amount QTL GWAS1918155 (human)		2e-18	serum creatinine amount		2	210528399	210528400	Human
628965024	GWAS2873253_H	serum creatinine amount QTL GWAS2873253 (human)		1e-81	serum creatinine amount		2	210675783	210675784	Human
628967072	GWAS2875301_H	glomerular filtration rate QTL GWAS2875301 (human)		7e-66	glomerular filtration rate		2	210675783	210675784	Human
598016123	GWAS1735422_H	myeloid leukocyte count QTL GWAS1735422 (human)		2e-26	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	2	210675783	210675784	Human
598081604	GWAS1800903_H	glomerular filtration rate QTL GWAS1800903 (human)		2e-48	glomerular filtration rate		2	210675783	210675784	Human
597055605	GWAS1151679_H	serum metabolite measurement, creatine measurement QTL GWAS1151679 (human)		1e-08	pain		2	210678331	210678332	Human
597137523	GWAS1233597_H	creatine measurement QTL GWAS1233597 (human)		2e-30	creatine measurement		2	210678331	210678332	Human
628694687	GWAS2602916_H	bilirubin measurement QTL GWAS2602916 (human)		5e-24	blood bilirubin amount (VT:0001569)	serum total bilirubin level (CMO:0000376)	2	210675783	210675784	Human
406893479	GWAS542455_H	platelet count QTL GWAS542455 (human)		2e-18	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	2	210675783	210675784	Human
407399343	GWAS1048319_H	blood urea nitrogen measurement QTL GWAS1048319 (human)		3e-40	blood urea nitrogen measurement		2	210675783	210675784	Human
628860562	GWAS2768791_H	X-11261 measurement QTL GWAS2768791 (human)		4e-19	X-11261 measurement		2	210675783	210675784	Human
597979215	GWAS1698514_H	circulating fibrinogen levels QTL GWAS1698514 (human)		2e-13	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	2	210678331	210678332	Human
597082234	GWAS1178308_H	mean platelet volume QTL GWAS1178308 (human)		5e-44	mean platelet volume		2	210675783	210675784	Human
626448058	GWAS2261991_H	obsolete_pain QTL GWAS2261991 (human)		5e-10	obsolete_pain		2	210490771	210490772	Human
628637333	GWAS2545562_H	vitamin D level QTL GWAS2545562 (human)		8e-10	degree of unsaturation measurement		2	210675783	210675784	Human
628567706	GWAS2475935_H	cerebral cortex area attribute QTL GWAS2475935 (human)		6e-09	cerebral cortex area attribute		2	210597156	210597157	Human
597606513	GWAS1663373_H	serum alanine aminotransferase measurement QTL GWAS1663373 (human)		6e-19	serum alanine aminotransferase measurement		2	210678331	210678332	Human
597327978	GWAS1424052_H	isobutyrylglycine measurement QTL GWAS1424052 (human)		2e-35	isobutyrylglycine measurement		2	210675783	210675784	Human
406930355	GWAS579331_H	alcohol consumption measurement QTL GWAS579331 (human)		1e-12	alcohol consumption measurement		2	210483082	210483083	Human
597330030	GWAS1426104_H	propionylglycine measurement QTL GWAS1426104 (human)		3e-99	propionylglycine measurement		2	210675783	210675784	Human
597082211	GWAS1178285_H	lymphocyte count QTL GWAS1178285 (human)		2e-10	blood bilirubin amount (VT:0001569)	serum total bilirubin level (CMO:0000376)	2	210675783	210675784	Human
407028666	GWAS677642_H	insulin sensitivity measurement QTL GWAS677642 (human)		3e-50	insulin sensitivity measurement	calculated blood insulin level (CMO:0000353)	2	210678331	210678332	Human
597055599	GWAS1151673_H	serum metabolite measurement, glycine measurement QTL GWAS1151673 (human)		1e-32	urate measurement		2	210678331	210678332	Human
597827675	GWAS1695066_H	glycine measurement QTL GWAS1695066 (human)		3e-37	glycine measurement		2	210675783	210675784	Human
597137517	GWAS1233591_H	citrulline measurement QTL GWAS1233591 (human)		1e-14	citrulline measurement		2	210502456	210502457	Human
628831873	GWAS2740102_H	serum creatinine amount QTL GWAS2740102 (human)		2e-18	serum creatinine amount		2	210528399	210528400	Human
407081912	GWAS730888_H	glycine measurement QTL GWAS730888 (human)		4e-41	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
597317734	GWAS1413808_H	glomerular filtration rate QTL GWAS1413808 (human)		1e-158	glomerular filtration rate		2	210675783	210675784	Human
407081918	GWAS730894_H	body height QTL GWAS730894 (human)		3e-09	systolic blood pressure		2	210675783	210675784	Human
407395253	GWAS1044229_H	propionylglycine measurement QTL GWAS1044229 (human)		3e-39	propionylglycine measurement		2	210675783	210675784	Human
628711044	GWAS2619273_H	C-C motif chemokine 16 measurement QTL GWAS2619273 (human)		3e-15	choline amount (VT:0011000)	blood high density lipoprotein cholesterol level (CMO:0000052)	2	210675783	210675784	Human
407385162	GWAS1034138_H	glycine measurement QTL GWAS1034138 (human)		6e-189	glycine measurement		2	210675783	210675784	Human
407241797	GWAS890773_H	X-17325 measurement QTL GWAS890773 (human)		8e-29	tigloylglycine measurement		2	210675783	210675784	Human
407381067	GWAS1030043_H	glycine measurement QTL GWAS1030043 (human)		2e-125	glycine measurement		2	210675783	210675784	Human
407065670	GWAS714646_H	metabolite measurement QTL GWAS714646 (human)		5e-23	metabolite measurement		2	210678331	210678332	Human
597983137	GWAS1702436_H	platelet volume QTL GWAS1702436 (human)		4e-46	platelet volume		2	210675783	210675784	Human
407241793	GWAS890769_H	X-17367 measurement QTL GWAS890769 (human)		1e-33	X-17367 measurement		2	210675783	210675784	Human
628418931	GWAS2327160_H	glycine measurement, amino acid measurement QTL GWAS2327160 (human)		2e-75	blood amino acid amount (VT:0005311)	blood amino acid measurement (CMO:0003730)	2	210678331	210678332	Human
628693374	GWAS2601603_H	level of argininosuccinate synthase in blood QTL GWAS2601603 (human)		5e-29	level of argininosuccinate synthase in blood		2	210675783	210675784	Human
628425087	GWAS2333316_H	appendicular lean mass QTL GWAS2333316 (human)		9e-10	blood HDL cholesterol amount (VT:0000184)	blood high density lipoprotein cholesterol level (CMO:0000052)	2	210675783	210675784	Human
407356492	GWAS1005468_H	histidine measurement QTL GWAS1005468 (human)		3e-56	histidine measurement		2	210675783	210675784	Human
597315477	GWAS1411551_H	propionylglycine measurement QTL GWAS1411551 (human)		3e-39	propionylglycine measurement		2	210675783	210675784	Human
597596044	GWAS1652904_H	glomerular filtration rate QTL GWAS1652904 (human)		7e-66	glomerular filtration rate		2	210675783	210675784	Human
407174231	GWAS823207_H	mean platelet volume QTL GWAS823207 (human)		5e-44	mean platelet volume		2	210675783	210675784	Human
407383134	GWAS1032110_H	macular telangiectasia type 2 QTL GWAS1032110 (human)		4e-20	macular telangiectasia type 2		2	210675783	210675784	Human
597325708	GWAS1421782_H	glycine measurement QTL GWAS1421782 (human)		5e-303	glycine measurement		2	210675783	210675784	Human
626458958	GWAS2272891_H	uric acid measurement QTL GWAS2272891 (human)		3e-17	uric acid measurement		2	210678331	210678332	Human
597161869	GWAS1257943_H	creatinine measurement QTL GWAS1257943 (human)		1e-30	sex hormone-binding globulin measurement		2	210675783	210675784	Human
628597101	GWAS2505330_H	high density lipoprotein cholesterol measurement QTL GWAS2505330 (human)		4e-10	blood HDL cholesterol amount (VT:0000184)	blood high density lipoprotein cholesterol level (CMO:0000052)	2	210675783	210675784	Human
407385174	GWAS1034150_H	glycine measurement QTL GWAS1034150 (human)		1e-300	glycine measurement		2	210675783	210675784	Human
617119976	GWAS2137475_H	carbonic anhydrase 3 measurement QTL GWAS2137475 (human)		9e-34	carbonic anhydrase 3 measurement		2	210675783	210675784	Human
597137333	GWAS1233407_H	cinnamoylglycine measurement QTL GWAS1233407 (human)		4e-27	cinnamoylglycine measurement		2	210675783	210675784	Human
407393388	GWAS1042364_H	N-acetylglycine measurement QTL GWAS1042364 (human)		2e-120	N-acetylglycine measurement		2	210675783	210675784	Human
407260259	GWAS909235_H	brain measurement QTL GWAS909235 (human)		5e-14	brain measurement		2	210597156	210597157	Human
616552601	GWAS1949184_H	Abnormality of the skeletal system QTL GWAS1949184 (human)		1e-32	Abnormality of the skeletal system		2	210675783	210675784	Human
628699487	GWAS2607716_H	whole body water mass QTL GWAS2607716 (human)		4e-33	whole body water mass		2	210675783	210675784	Human
597139376	GWAS1235450_H	cinnamoylglycine measurement QTL GWAS1235450 (human)		3e-79	cinnamoylglycine measurement		2	210675783	210675784	Human
626454897	GWAS2268830_H	serum creatinine amount QTL GWAS2268830 (human)		2e-19	serum creatinine amount		2	210675783	210675784	Human
628818258	GWAS2726487_H	glomerular filtration rate QTL GWAS2726487 (human)		2e-21	glomerular filtration rate		2	210538393	210538394	Human
406905962	GWAS554938_H	dimethylglycine measurement QTL GWAS554938 (human)		8e-10	dimethylglycine measurement		2	210678331	210678332	Human
597139384	GWAS1235458_H	citrulline measurement QTL GWAS1235458 (human)		3e-25	citrulline measurement		2	210564791	210564792	Human
407090290	GWAS739266_H	urinary metabolite measurement QTL GWAS739266 (human)		9e-23	X-21467 measurement		2	210675783	210675784	Human
597348264	GWAS1444338_H	lean body mass QTL GWAS1444338 (human)		3e-23	lean body mass		2	210675783	210675784	Human
597026722	GWAS1122796_H	body mass index QTL GWAS1122796 (human)		1e-16	body size trait (VT:0100005)	body mass index (BMI) (CMO:0000105)	2	210678331	210678332	Human
407260287	GWAS909263_H	2-butenoylglycine measurement QTL GWAS909263 (human)		1e-47	2-butenoylglycine measurement		2	210675783	210675784	Human
407352446	GWAS1001422_H	glomerular filtration rate QTL GWAS1001422 (human)		2e-150	glomerular filtration rate		2	210675783	210675784	Human
597137325	GWAS1233399_H	gamma-glutamylglycine measurement QTL GWAS1233399 (human)		1e-152	gamma-glutamylglycine measurement		2	210675783	210675784	Human
597137323	GWAS1233397_H	gamma-glutamylcitrulline measurement QTL GWAS1233397 (human)		2e-11	gamma-glutamylcitrulline measurement		2	210492918	210492919	Human
597235621	GWAS1331695_H	blood protein measurement QTL GWAS1331695 (human)		2e-42	blood protein measurement		2	210675783	210675784	Human
407243899	GWAS892875_H	isovalerylglycine measurement QTL GWAS892875 (human)		2e-34	isovalerylglycine measurement		2	210675783	210675784	Human
597137322	GWAS1233396_H	gamma-glutamylcitrulline measurement QTL GWAS1233396 (human)		1e-11	gamma-glutamylcitrulline measurement		2	210515349	210515350	Human
597284772	GWAS1380846_H	response to warfarin QTL GWAS1380846 (human)		0.000008	response to warfarin		2	210541483	210541484	Human
628949314	GWAS2857543_H	serum albumin amount QTL GWAS2857543 (human)		8e-09	serum albumin amount		2	210513011	210513012	Human
597159895	GWAS1255969_H	citrate measurement QTL GWAS1255969 (human)		7e-21	serum homoarginine measurement		2	210675783	210675784	Human
597323738	GWAS1419812_H	3-methylglutaconate measurement QTL GWAS1419812 (human)		1e-88	3-methylglutaconate measurement		2	210675783	210675784	Human
597817317	GWAS1684708_H	platelet count QTL GWAS1684708 (human)		2e-26	platelet count		2	210675783	210675784	Human
597614555	GWAS1671415_H	mean corpuscular volume QTL GWAS1671415 (human)		1e-14	mean corpuscular volume		2	210678331	210678332	Human
407258112	GWAS907088_H	3-methylglutarylcarnitine (2) measurement QTL GWAS907088 (human)		8e-91	3-methylglutarylcarnitine (2) measurement		2	210675783	210675784	Human
596965331	GWAS1084850_H	creatinine measurement, diet measurement QTL GWAS1084850 (human)		0.000006	creatinine measurement, diet measurement		2	210678331	210678332	Human
597168080	GWAS1264154_H	cholelithiasis QTL GWAS1264154 (human)		1e-12	cholelithiasis		2	210678331	210678332	Human
597139422	GWAS1235496_H	gamma-glutamylthreonine measurement QTL GWAS1235496 (human)		6e-16	3-methylglutarylcarnitine (2) measurement		2	210675783	210675784	Human
616368374	GWAS1848616_H	glomerular filtration rate QTL GWAS1848616 (human)		3e-40	glomerular filtration rate		2	210675783	210675784	Human
407395334	GWAS1044310_H	creatinine measurement QTL GWAS1044310 (human)		1e-103	creatinine measurement		2	210675783	210675784	Human
407096337	GWAS745313_H	hexanoylglycine measurement QTL GWAS745313 (human)		7e-44	hexanoylglycine measurement		2	210678331	210678332	Human
597141455	GWAS1237529_H	serum homoarginine measurement QTL GWAS1237529 (human)		5e-47	serum homoarginine measurement		2	210675783	210675784	Human
597596101	GWAS1652961_H	glomerular filtration rate QTL GWAS1652961 (human)		2e-66	glomerular filtration rate		2	210675783	210675784	Human
407387159	GWAS1036135_H	urinary albumin to creatinine ratio QTL GWAS1036135 (human)		5e-15	systolic blood pressure		2	210675783	210675784	Human
597141448	GWAS1237522_H	N-palmitoylglycine measurement QTL GWAS1237522 (human)		4e-26	N-palmitoylglycine measurement		2	210675783	210675784	Human
407256102	GWAS905078_H	serum homoarginine measurement QTL GWAS905078 (human)		2e-67	serum homoarginine measurement		2	210675783	210675784	Human
628662552	GWAS2570781_H	Pain QTL GWAS2570781 (human)		5e-10	Pain		2	210490771	210490772	Human
407309350	GWAS958326_H	glomerular filtration rate QTL GWAS958326 (human)		3e-42	glomerular filtration rate		2	210675783	210675784	Human
597585919	GWAS1642779_H	creatinine measurement QTL GWAS1642779 (human)		4e-41	creatinine measurement		2	210675783	210675784	Human
407098406	GWAS747382_H	leukocyte count QTL GWAS747382 (human)		2e-13	neutrophil count		2	210675783	210675784	Human
628762911	GWAS2671140_H	metabolite measurement QTL GWAS2671140 (human)		3e-127	metabolite measurement		2	210675783	210675784	Human
597295089	GWAS1391163_H	citrulline measurement QTL GWAS1391163 (human)		1e-25	citrulline measurement		2	210521760	210521761	Human
407256109	GWAS905085_H	N-acetylglycine measurement QTL GWAS905085 (human)		1e-129	N-acetylglycine measurement		2	210675783	210675784	Human
597104635	GWAS1200709_H	platelet component distribution width QTL GWAS1200709 (human)		1e-10	joint integrity trait (VT:0010548)	platelet distribution width (CMO:0001350)	2	210678331	210678332	Human
597030904	GWAS1126978_H	glomerular filtration rate QTL GWAS1126978 (human)		2e-62	glomerular filtration rate		2	210675783	210675784	Human
407098418	GWAS747394_H	mean corpuscular hemoglobin QTL GWAS747394 (human)		6e-25	erythrocyte hemoglobin amount (VT:0010953)	mean corpuscular hemoglobin (CMO:0000290)	2	210675783	210675784	Human
616374473	GWAS1854715_H	obsolete_serum alanine aminotransferase measurement QTL GWAS1854715 (human)		4e-15	obsolete_serum alanine aminotransferase measurement		2	210675783	210675784	Human
628707596	GWAS2615825_H	3-methylglutarylcarnitine (2) measurement QTL GWAS2615825 (human)		8e-65	3-methylglutarylcarnitine (2) measurement		2	210675783	210675784	Human
407256113	GWAS905089_H	propionylglycine measurement QTL GWAS905089 (human)		9e-96	glycine measurement		2	210675783	210675784	Human
628967683	GWAS2875912_H	serum creatinine amount QTL GWAS2875912 (human)		6e-71	serum creatinine amount		2	210675783	210675784	Human
596958996	GWAS1078515_H	response to warfarin QTL GWAS1078515 (human)		0.000008	response to warfarin		2	210541483	210541484	Human
597139221	GWAS1235295_H	choline measurement QTL GWAS1235295 (human)		3e-15	high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
598042407	GWAS1761706_H	serum creatinine amount QTL GWAS1761706 (human)		6e-71	serum creatinine amount		2	210675783	210675784	Human
628472310	GWAS2380539_H	CA2/CA3 protein level ratio in blood QTL GWAS2380539 (human)		3e-52	CA2/CA3 protein level ratio in blood		2	210675783	210675784	Human
617136204	GWAS2153703_H	level of podocalyxin-like protein 2 in blood serum QTL GWAS2153703 (human)		6e-19	level of podocalyxin-like protein 2 in blood serum		2	210675783	210675784	Human
628697597	GWAS2605826_H	cerebral cortex area attribute QTL GWAS2605826 (human)		2e-08	cerebral cortex area attribute		2	210597156	210597157	Human
597120786	GWAS1216860_H	blood protein measurement QTL GWAS1216860 (human)		2e-59	blood protein measurement		2	210675783	210675784	Human
628599281	GWAS2507510_H	sex hormone-binding globulin measurement QTL GWAS2507510 (human)		6e-15	sex hormone-binding globulin measurement		2	210675783	210675784	Human
597081873	GWAS1177947_H	neutrophil count QTL GWAS1177947 (human)		9e-21	macular telangiectasia type 2		2	210675783	210675784	Human
597186335	GWAS1282409_H	glycine measurement QTL GWAS1282409 (human)		1e-324	glycine measurement		2	210675783	210675784	Human
628705776	GWAS2614005_H	3-methylglutaconate measurement QTL GWAS2614005 (human)		3e-70	3-methylglutaconate measurement		2	210675783	210675784	Human
407268556	GWAS917532_H	L-arginine measurement QTL GWAS917532 (human)		1e-22	L-arginine measurement		2	210678331	210678332	Human
597813035	GWAS1680426_H	serum metabolite measurement QTL GWAS1680426 (human)		2e-13	3-hydroxybutyroylglycine measurement		2	210675783	210675784	Human
597137179	GWAS1233253_H	dimethylglycine measurement QTL GWAS1233253 (human)		8e-10	dimethylglycine measurement		2	210678331	210678332	Human
628990449	GWAS2898678_H	erythrocyte volume QTL GWAS2898678 (human)		1e-14	erythrocyte volume		2	210678331	210678332	Human
407329993	GWAS978969_H	cortical surface area measurement QTL GWAS978969 (human)		2e-08	cortical surface area measurement		2	210597156	210597157	Human
628896242	GWAS2804471_H	metabolite measurement QTL GWAS2804471 (human)		1e-39	metabolite measurement		2	210675783	210675784	Human
407366856	GWAS1015832_H	glomerular filtration rate QTL GWAS1015832 (human)		0.000004	glomerular filtration rate		2	210675783	210675784	Human
628896243	GWAS2804472_H	metabolite measurement QTL GWAS2804472 (human)		1e-31	metabolite measurement		2	210675783	210675784	Human
628597222	GWAS2505451_H	tyrosine measurement QTL GWAS2505451 (human)		7e-12	blood L-tyrosine amount (VT:0010974)		2	210678331	210678332	Human
628834794	GWAS2743023_H	threonine measurement QTL GWAS2743023 (human)		4e-17	blood L-threonine amount (VT:0010983)	blood amino acid measurement (CMO:0003730)	2	210678331	210678332	Human
628759016	GWAS2667245_H	2-butenoylglycine measurement QTL GWAS2667245 (human)		1e-47	2-butenoylglycine measurement		2	210675783	210675784	Human
407381214	GWAS1030190_H	serum homoarginine measurement QTL GWAS1030190 (human)		5e-47	serum homoarginine measurement		2	210675783	210675784	Human
407381215	GWAS1030191_H	N-acetylglycine measurement QTL GWAS1030191 (human)		3e-135	N-acetylglycine measurement		2	210675783	210675784	Human
597323533	GWAS1419607_H	N-acetylthreonine measurement QTL GWAS1419607 (human)		5e-13	N-acetylthreonine measurement		2	210678331	210678332	Human
628373987	GWAS2294831_H	creatine level QTL GWAS2294831 (human)		1e-24	creatine level		2	210678331	210678332	Human
628705774	GWAS2614003_H	3-methylglutaconate measurement QTL GWAS2614003 (human)		4e-57	3-methylglutaconate measurement		2	210675783	210675784	Human
628709857	GWAS2618086_H	N-acetylglycine measurement QTL GWAS2618086 (human)		3e-58	N-acetylglycine measurement		2	210675783	210675784	Human
597233414	GWAS1329488_H	appendicular lean mass QTL GWAS1329488 (human)		6e-27	appendicular lean mass		2	210675783	210675784	Human
616525854	GWAS1922437_H	eosinophil percentage of leukocytes QTL GWAS1922437 (human)		7e-30	eosinophil percentage of leukocytes		2	210678331	210678332	Human
628677081	GWAS2585310_H	gamma-glutamylglycine measurement QTL GWAS2585310 (human)		1e-151	gamma-glutamylglycine measurement		2	210675783	210675784	Human
597329726	GWAS1425800_H	serum homoarginine measurement QTL GWAS1425800 (human)		3e-60	serum homoarginine measurement		2	210675783	210675784	Human
628500946	GWAS2409175_H	APP/DKK1 protein level ratio in blood QTL GWAS2409175 (human)		1e-22	level of synaptic vesicle membrane protein VAT-1 in blood		2	210675783	210675784	Human
597827335	GWAS1694726_H	body mass index QTL GWAS1694726 (human)		9e-14	body mass index		2	210678331	210678332	Human
628849118	GWAS2757347_H	3-methylglutarylcarnitine (2) measurement QTL GWAS2757347 (human)		9e-190	3-methylglutarylcarnitine (2) measurement		2	210675783	210675784	Human
628859346	GWAS2767575_H	glycine measurement QTL GWAS2767575 (human)		8e-90	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
406949098	GWAS598074_H	body mass index QTL GWAS598074 (human)		0.000007	body size trait (VT:0100005)	body mass index (BMI) (CMO:0000105)	2	210678331	210678332	Human
598083341	GWAS1802640_H	glomerular filtration rate QTL GWAS1802640 (human)		5e-43	glomerular filtration rate		2	210675783	210675784	Human
616376338	GWAS1856580_H	obsolete_serum metabolite measurement QTL GWAS1856580 (human)		5e-22	obsolete_serum metabolite measurement		2	210675783	210675784	Human
628675031	GWAS2583260_H	propionylglycine measurement QTL GWAS2583260 (human)		3e-99	propionylglycine measurement		2	210675783	210675784	Human
597186345	GWAS1282419_H	3-methylglutarylcarnitine (2) measurement QTL GWAS1282419 (human)		8e-91	3-methylglutarylcarnitine (2) measurement		2	210675783	210675784	Human
597315372	GWAS1411446_H	indolepropionylglycine measurement QTL GWAS1411446 (human)		9e-20	indolepropionylglycine measurement		2	210675783	210675784	Human
628404674	GWAS2312903_H	creatine level, serum metabolite level QTL GWAS2312903 (human)		1e-08	Pain		2	210678331	210678332	Human
616370181	GWAS1850423_H	obsolete_serum metabolite measurement QTL GWAS1850423 (human)		4e-12	obsolete_serum metabolite measurement		2	210678331	210678332	Human
597991197	GWAS1710496_H	glomerular filtration rate QTL GWAS1710496 (human)		1e-11	glomerular filtration rate		2	210678331	210678332	Human
628505039	GWAS2413268_H	AARSD1/EIF4EBP1 protein level ratio in blood QTL GWAS2413268 (human)		4e-17	body mass (VT:0001259)	body weight (CMO:0000012)	2	210675783	210675784	Human
598089500	GWAS1808799_H	glomerular filtration rate QTL GWAS1808799 (human)		2e-150	glomerular filtration rate		2	210675783	210675784	Human
597329702	GWAS1425776_H	2-butenoylglycine measurement QTL GWAS1425776 (human)		8e-22	2-butenoylglycine measurement		2	210675783	210675784	Human
597612322	GWAS1669182_H	mean corpuscular volume QTL GWAS1669182 (human)		5e-19	mean corpuscular volume		2	210675783	210675784	Human
407243908	GWAS892884_H	isobutyrylglycine measurement QTL GWAS892884 (human)		2e-38	isobutyrylglycine measurement		2	210675783	210675784	Human
597307224	GWAS1403298_H	creatinine measurement QTL GWAS1403298 (human)		1e-103	creatinine measurement		2	210675783	210675784	Human
597583708	GWAS1640568_H	mean corpuscular volume QTL GWAS1640568 (human)		4e-12	alcohol consumption measurement, high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
628455863	GWAS2364092_H	macular telangiectasia type 2 QTL GWAS2364092 (human)		9e-21	neutrophil quantity (VT:0000222)	blood neutrophil count (CMO:0000030)	2	210675783	210675784	Human
597813093	GWAS1680484_H	platelet crit QTL GWAS1680484 (human)		2e-12	platelet crit		2	210678331	210678332	Human
597315423	GWAS1411497_H	X-17367 measurement QTL GWAS1411497 (human)		6e-20	X-17367 measurement		2	210675783	210675784	Human
407243905	GWAS892881_H	glutarylcarnitine (C5-DC) measurement QTL GWAS892881 (human)		4e-10	high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
628703665	GWAS2611894_H	isobutyrylglycine measurement QTL GWAS2611894 (human)		3e-57	isobutyrylglycine measurement		2	210675783	210675784	Human
597813096	GWAS1680487_H	neutrophil count QTL GWAS1680487 (human)		2e-13	X-17325 measurement		2	210678331	210678332	Human
407260300	GWAS909276_H	sex hormone-binding globulin measurement QTL GWAS909276 (human)		1e-30	creatinine measurement		2	210675783	210675784	Human
628990391	GWAS2898620_H	kidney failure QTL GWAS2898620 (human)		6e-12	kidney failure		2	210675783	210675784	Human
617203716	GWAS2184156_H	level of bone marrow proteoglycan in blood QTL GWAS2184156 (human)		1e-18	level of bone marrow proteoglycan in blood		2	210675783	210675784	Human
407381127	GWAS1030103_H	glycine measurement QTL GWAS1030103 (human)		8e-90	glycine measurement		2	210675783	210675784	Human
407198871	GWAS847847_H	serine measurement QTL GWAS847847 (human)		6e-84	serine measurement		2	210678331	210678332	Human
407055504	GWAS704480_H	eosinophil count QTL GWAS704480 (human)		7e-15	aspartate measurement		2	210678331	210678332	Human
597585738	GWAS1642598_H	creatinine measurement QTL GWAS1642598 (human)		1e-54	creatinine measurement		2	210675783	210675784	Human
598011760	GWAS1731059_H	CA1/CA3 protein level ratio in blood QTL GWAS1731059 (human)		3e-67	CA1/CA3 protein level ratio in blood		2	210675783	210675784	Human
628703660	GWAS2611889_H	indolepropionylglycine measurement QTL GWAS2611889 (human)		9e-20	indolepropionylglycine measurement		2	210675783	210675784	Human
597979005	GWAS1698304_H	platelet volume QTL GWAS1698304 (human)		7e-14	body mass (VT:0001259)	body weight (CMO:0000012)	2	210675783	210675784	Human
628965796	GWAS2874025_H	serum creatinine amount QTL GWAS2874025 (human)		6e-95	serum creatinine amount		2	210675783	210675784	Human
407383186	GWAS1032162_H	blood protein measurement QTL GWAS1032162 (human)		2e-42	blood protein measurement		2	210675783	210675784	Human
597329734	GWAS1425808_H	guanidinosuccinate measurement QTL GWAS1425808 (human)		5e-14	guanidinosuccinate measurement		2	210678331	210678332	Human
597319494	GWAS1415568_H	propionylglycine measurement QTL GWAS1415568 (human)		2e-273	propionylglycine measurement		2	210675783	210675784	Human
597329735	GWAS1425809_H	hexanoylglycine measurement QTL GWAS1425809 (human)		7e-44	hexanoylglycine measurement		2	210678331	210678332	Human
628521366	GWAS2429595_H	systolic blood pressure QTL GWAS2429595 (human)		6e-14	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	210675783	210675784	Human
597319547	GWAS1415621_H	metabolite measurement QTL GWAS1415621 (human)		2e-14	metabolite measurement		2	210675783	210675784	Human
628404629	GWAS2312858_H	serum metabolite level, glycine measurement QTL GWAS2312858 (human)		1e-32	blood glycine amount (VT:0010965)	blood uric acid level (CMO:0000501)	2	210678331	210678332	Human
626457015	GWAS2270948_H	platelet count QTL GWAS2270948 (human)		1e-68	platelet count		2	210675783	210675784	Human
628717981	GWAS2626210_H	glomerular filtration rate QTL GWAS2626210 (human)		1e-158	glomerular filtration rate		2	210675783	210675784	Human
628758942	GWAS2667171_H	hexanoylglycine measurement QTL GWAS2667171 (human)		9e-67	hexanoylglycine measurement		2	210675783	210675784	Human
597995329	GWAS1714628_H	serum creatinine amount QTL GWAS1714628 (human)		2e-12	serum creatinine amount		2	210678331	210678332	Human
628867486	GWAS2775715_H	dimethylglycine measurement QTL GWAS2775715 (human)		8e-10	dimethylglycine measurement		2	210678331	210678332	Human
597235583	GWAS1331657_H	blood protein measurement QTL GWAS1331657 (human)		3e-67	blood protein measurement		2	210675783	210675784	Human
597038972	GWAS1135046_H	urinary metabolite measurement QTL GWAS1135046 (human)		3e-24	urinary metabolite measurement		2	210675783	210675784	Human
597094268	GWAS1190342_H	urinary metabolite measurement QTL GWAS1190342 (human)		8e-31	urine molecular composition trait (VT:0001757)		2	210678331	210678332	Human
597038973	GWAS1135047_H	urinary metabolite measurement QTL GWAS1135047 (human)		8e-30	cinnamoylglycine measurement		2	210675783	210675784	Human
598060873	GWAS1780172_H	alcohol consumption quality QTL GWAS1780172 (human)		2e-08	alcohol consumption quality		2	210589409	210589410	Human
597038971	GWAS1135045_H	urinary metabolite measurement QTL GWAS1135045 (human)		2e-16	serum metabolite measurement		2	210675783	210675784	Human
616542287	GWAS1938870_H	HGF/PLAUR protein level ratio in blood QTL GWAS1938870 (human)		7e-42	HGF/PLAUR protein level ratio in blood		2	210675783	210675784	Human
597297000	GWAS1393074_H	carnitine measurement QTL GWAS1393074 (human)		3e-91	carnitine measurement		2	210675783	210675784	Human
407399612	GWAS1048588_H	metabolite measurement QTL GWAS1048588 (human)		9e-60	metabolite measurement		2	210675783	210675784	Human
597309293	GWAS1405367_H	blood urea nitrogen measurement QTL GWAS1405367 (human)		3e-40	blood urea nitrogen measurement		2	210675783	210675784	Human
597217121	GWAS1313195_H	glomerular filtration rate QTL GWAS1313195 (human)		0.000004	glomerular filtration rate		2	210675783	210675784	Human
597284706	GWAS1380780_H	glomerular filtration rate QTL GWAS1380780 (human)		4e-18	glomerular filtration rate		2	210678331	210678332	Human
628373896	GWAS2294740_H	Pain QTL GWAS2294740 (human)		5e-10	Pain		2	210490771	210490772	Human
597137045	GWAS1233119_H	plasma betaine measurement QTL GWAS1233119 (human)		4e-29	plasma betaine measurement		2	210675783	210675784	Human
406910278	GWAS559254_H	creatinine measurement, glomerular filtration rate QTL GWAS559254 (human)		2e-16	serum metabolite measurement		2	210675783	210675784	Human
407391566	GWAS1040542_H	3-hydroxybutyroylglycine measurement QTL GWAS1040542 (human)		2e-33	3-hydroxybutyroylglycine measurement		2	210675783	210675784	Human
628940917	GWAS2849146_H	serum alanine aminotransferase amount QTL GWAS2849146 (human)		3e-18	serum alanine aminotransferase amount		2	210678331	210678332	Human
407391556	GWAS1040532_H	2-butenoylglycine measurement QTL GWAS1040532 (human)		8e-22	2-butenoylglycine measurement		2	210675783	210675784	Human
407006543	GWAS655519_H	mean corpuscular hemoglobin concentration QTL GWAS655519 (human)		5e-31	3-methylglutaconate measurement		2	210675783	210675784	Human
628549735	GWAS2457964_H	level of phosphatidylcholine-sterol acyltransferase in blood QTL GWAS2457964 (human)		9e-13	level of phosphatidylcholine-sterol acyltransferase in blood		2	210678331	210678332	Human
597079685	GWAS1175759_H	Red cell distribution width QTL GWAS1175759 (human)		3e-10	blood L-alanine amount (VT:0010967)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
597315214	GWAS1411288_H	cortical surface area measurement QTL GWAS1411288 (human)		2e-08	cortical surface area measurement		2	210597156	210597157	Human
628885610	GWAS2793839_H	educational attainment QTL GWAS2793839 (human)		7e-19	educational attainment		2	210602824	210602825	Human
628693102	GWAS2601331_H	mean corpuscular hemoglobin QTL GWAS2601331 (human)		4e-28	erythrocyte hemoglobin amount (VT:0010953)	mean corpuscular hemoglobin (CMO:0000290)	2	210675783	210675784	Human
407364959	GWAS1013935_H	mean corpuscular volume QTL GWAS1013935 (human)		1e-20	mean corpuscular volume		2	210675783	210675784	Human
628865122	GWAS2773351_H	glycine measurement QTL GWAS2773351 (human)		3e-222	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
628492396	GWAS2400625_H	uric acid measurement QTL GWAS2400625 (human)		0.000002	blood uric acid amount (VT:0010302)	blood uric acid level (CMO:0000501)	2	210678331	210678332	Human
407039327	GWAS688303_H	glomerular filtration rate QTL GWAS688303 (human)		2e-102	glomerular filtration rate		2	210675783	210675784	Human
597329595	GWAS1425669_H	gamma-glutamylglycine measurement QTL GWAS1425669 (human)		1e-151	gamma-glutamylglycine measurement		2	210675783	210675784	Human
406941027	GWAS590003_H	body mass index QTL GWAS590003 (human)		2e-16	fibrinogen measurement, plasminogen activator inhibitor 1 measurement		2	210678331	210678332	Human
406988128	GWAS637104_H	systolic blood pressure QTL GWAS637104 (human)		9e-13	threonine measurement		2	210675783	210675784	Human
407317858	GWAS966834_H	alcohol consumption measurement QTL GWAS966834 (human)		2e-08	alcohol consumption measurement		2	210589409	210589410	Human
597296818	GWAS1392892_H	histidine measurement QTL GWAS1392892 (human)		6e-27	histidine measurement		2	210678331	210678332	Human
407260527	GWAS909503_H	3-hydroxybutyroylglycine measurement QTL GWAS909503 (human)		6e-99	3-hydroxybutyroylglycine measurement		2	210675783	210675784	Human
616499606	GWAS1896189_H	phospholipid amount, high density lipoprotein cholesterol measurement QTL GWAS1896189 (human)		3e-08	phospholipid amount, high density lipoprotein cholesterol measurement		2	210645804	210645805	Human
407260525	GWAS909501_H	metabolite measurement QTL GWAS909501 (human)		1e-44	metabolite measurement		2	210675783	210675784	Human
597157564	GWAS1253638_H	high density lipoprotein cholesterol measurement QTL GWAS1253638 (human)		4e-10	glutarylcarnitine (C5-DC) measurement		2	210675783	210675784	Human
628846672	GWAS2754901_H	N-acetylthreonine measurement QTL GWAS2754901 (human)		5e-13	N-acetylthreonine measurement		2	210678331	210678332	Human
597028538	GWAS1124612_H	glomerular filtration rate QTL GWAS1124612 (human)		1e-08	free cholesterol measurement, high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
597319349	GWAS1415423_H	isovalerylglycine measurement QTL GWAS1415423 (human)		3e-81	isovalerylglycine measurement		2	210675783	210675784	Human
407065969	GWAS714945_H	metabolite measurement QTL GWAS714945 (human)		1e-74	metabolite measurement		2	210678331	210678332	Human
628650059	GWAS2558288_H	histidine measurement QTL GWAS2558288 (human)		8e-57	blood L-hisitidine amount (VT:0010976)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
407391612	GWAS1040588_H	glycine measurement QTL GWAS1040588 (human)		5e-303	glycine measurement		2	210675783	210675784	Human
597137057	GWAS1233131_H	serum homoarginine measurement QTL GWAS1233131 (human)		6e-152	serum homoarginine measurement		2	210675783	210675784	Human
597585574	GWAS1642434_H	eosinophil count QTL GWAS1642434 (human)		2e-11	blood HDL cholesterol amount (VT:0000184)	blood high density lipoprotein cholesterol level (CMO:0000052)	2	210675783	210675784	Human
407387505	GWAS1036481_H	level of N-oxalylglycine in blood QTL GWAS1036481 (human)		5e-19	level of N-oxalylglycine in blood		2	210675783	210675784	Human
616382855	GWAS1863097_H	obsolete_blood urea nitrogen measurement QTL GWAS1863097 (human)		3e-14	obsolete_blood urea nitrogen measurement		2	210678331	210678332	Human
407326076	GWAS975052_H	tyrosine measurement QTL GWAS975052 (human)		7e-12	tyrosine measurement		2	210678331	210678332	Human
628533325	GWAS2441554_H	platelet count QTL GWAS2441554 (human)		9e-14	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	2	210675783	210675784	Human
407332216	GWAS981192_H	serum alanine aminotransferase measurement QTL GWAS981192 (human)		4e-15	serum alanine aminotransferase measurement		2	210675783	210675784	Human
617097719	GWAS2115218_H	serum creatinine amount QTL GWAS2115218 (human)		1e-126	serum creatinine amount		2	210675783	210675784	Human
598011621	GWAS1730920_H	CA2/CA3 protein level ratio in blood QTL GWAS1730920 (human)		3e-52	CA2/CA3 protein level ratio in blood		2	210675783	210675784	Human
597186256	GWAS1282330_H	gamma-glutamylglycine measurement QTL GWAS1282330 (human)		5e-216	gamma-glutamylglycine measurement		2	210675783	210675784	Human
628672561	GWAS2580790_H	N-acetylglycine measurement QTL GWAS2580790 (human)		2e-120	N-acetylglycine measurement		2	210675783	210675784	Human
597290709	GWAS1386783_H	Chronic pain QTL GWAS1386783 (human)		1e-08	Chronic pain		2	210559053	210559054	Human
597096155	GWAS1192229_H	serum alanine aminotransferase measurement QTL GWAS1192229 (human)		4e-15	serum alanine aminotransferase measurement		2	210675783	210675784	Human
628707380	GWAS2615609_H	metabolite measurement QTL GWAS2615609 (human)		1e-74	metabolite measurement		2	210678331	210678332	Human
628707382	GWAS2615611_H	3-methylglutarylcarnitine (2) measurement QTL GWAS2615611 (human)		7e-61	3-methylglutarylcarnitine (2) measurement		2	210675783	210675784	Human
628414500	GWAS2322729_H	urinary metabolite measurement QTL GWAS2322729 (human)		2e-21	urine molecular composition trait (VT:0001757)		2	210675783	210675784	Human
407254295	GWAS903271_H	glycine measurement QTL GWAS903271 (human)		1e-200	glycine measurement		2	210675783	210675784	Human
407395612	GWAS1044588_H	hexanoylglycine measurement QTL GWAS1044588 (human)		3e-62	hexanoylglycine measurement		2	210675783	210675784	Human
598048497	GWAS1767796_H	alcohol consumption quality QTL GWAS1767796 (human)		2e-13	alcohol consumption quality		2	210560156	210560157	Human
628414496	GWAS2322725_H	urinary metabolite measurement QTL GWAS2322725 (human)		3e-25	urine molecular composition trait (VT:0001757)		2	210675783	210675784	Human
628414498	GWAS2322727_H	urinary metabolite measurement QTL GWAS2322727 (human)		5e-26	urine molecular composition trait (VT:0001757)		2	210675783	210675784	Human
628846629	GWAS2754858_H	isovalerylglycine measurement QTL GWAS2754858 (human)		3e-81	isovalerylglycine measurement		2	210675783	210675784	Human
597100232	GWAS1196306_H	urinary albumin to creatinine ratio QTL GWAS1196306 (human)		5e-15	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	210675783	210675784	Human
597989062	GWAS1708361_H	serum creatinine amount, glomerular filtration rate QTL GWAS1708361 (human)		2e-16	serum creatinine amount, glomerular filtration rate		2	210675783	210675784	Human
597323518	GWAS1419592_H	3-methylglutarylcarnitine (2) measurement QTL GWAS1419592 (human)		9e-190	3-methylglutarylcarnitine (2) measurement		2	210675783	210675784	Human
597595899	GWAS1652759_H	creatinine measurement QTL GWAS1652759 (human)		6e-71	creatinine measurement		2	210675783	210675784	Human
597159664	GWAS1255738_H	glycine measurement QTL GWAS1255738 (human)		1e-3580	glycine measurement		2	210675783	210675784	Human
407252271	GWAS901247_H	glycosyl-N-(2-hydroxynervonoyl)-sphingosine (d18:1/24:1(2OH)) measurement QTL GWAS901247 (human)		9e-12	glycosyl-N-(2-hydroxynervonoyl)-sphingosine (d18:1/24:1(2OH)) measurement		2	210675783	210675784	Human
628414494	GWAS2322723_H	urinary metabolite measurement QTL GWAS2322723 (human)		4e-14	blood alkaline phosphatase amount (VT:0000202)	blood alkaline phosphatase activity level (CMO:0000576)	2	210675783	210675784	Human
598038219	GWAS1757518_H	diet measurement, serum creatinine amount QTL GWAS1757518 (human)		0.000006	diet measurement, serum creatinine amount		2	210678331	210678332	Human
597587697	GWAS1644557_H	glomerular filtration rate QTL GWAS1644557 (human)		2e-48	glomerular filtration rate		2	210675783	210675784	Human
628592664	GWAS2500893_H	cholesterol:total lipids ratio, low density lipoprotein cholesterol measurement QTL GWAS2500893 (human)		1e-09	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	210675783	210675784	Human
628414465	GWAS2322694_H	urinary metabolite measurement QTL GWAS2322694 (human)		3e-22	urine molecular composition trait (VT:0001757)		2	210675783	210675784	Human
597159663	GWAS1255737_H	glycine measurement QTL GWAS1255737 (human)		7e-09	glycine measurement		2	210576771	210576772	Human
597159662	GWAS1255736_H	glycine measurement QTL GWAS1255736 (human)		1e-23	glycine measurement		2	210572663	210572664	Human
616569274	GWAS1965857_H	level of phosphatidylcholine-sterol acyltransferase in blood serum QTL GWAS1965857 (human)		9e-13	level of phosphatidylcholine-sterol acyltransferase in blood serum		2	210678331	210678332	Human
597159660	GWAS1255734_H	glycine measurement QTL GWAS1255734 (human)		2e-08	glycine measurement		2	210525055	210525056	Human
598081241	GWAS1800540_H	serum creatinine amount QTL GWAS1800540 (human)		1e-54	serum creatinine amount		2	210675783	210675784	Human
597317351	GWAS1413425_H	glomerular filtration rate QTL GWAS1413425 (human)		6e-30	glomerular filtration rate		2	210675783	210675784	Human
407315769	GWAS964745_H	creatinine measurement QTL GWAS964745 (human)		3e-14	creatinine measurement		2	210675783	210675784	Human
628895746	GWAS2803975_H	metabolite measurement QTL GWAS2803975 (human)		4e-32	metabolite measurement		2	210675783	210675784	Human
628895747	GWAS2803976_H	metabolite measurement QTL GWAS2803976 (human)		6e-40	metabolite measurement		2	210675783	210675784	Human
407066051	GWAS715027_H	metabolite measurement QTL GWAS715027 (human)		1e-26	metabolite measurement		2	210678331	210678332	Human
407248327	GWAS897303_H	creatine measurement QTL GWAS897303 (human)		2e-41	uric acid measurement		2	210675783	210675784	Human
407279047	GWAS928023_H	obsolete_red blood cell distribution width QTL GWAS928023 (human)		2e-12	leukocyte count		2	210675783	210675784	Human
617124174	GWAS2141673_H	whole body water mass QTL GWAS2141673 (human)		4e-33	whole body water mass		2	210675783	210675784	Human
597110303	GWAS1206377_H	creatinine measurement QTL GWAS1206377 (human)		3e-14	creatinine measurement		2	210675783	210675784	Human
598044204	GWAS1763503_H	body height QTL GWAS1763503 (human)		4e-40	body height		2	210675783	210675784	Human
407248333	GWAS897309_H	5-methylthioadenosine (MTA) measurement QTL GWAS897309 (human)		5e-11	serine measurement		2	210675783	210675784	Human
597616149	GWAS1673009_H	kidney failure QTL GWAS1673009 (human)		6e-12	kidney failure		2	210675783	210675784	Human
616479029	GWAS1875612_H	creatine amount, serum metabolite level QTL GWAS1875612 (human)		1e-08	pain		2	210678331	210678332	Human
597048839	GWAS1144913_H	leukocyte count QTL GWAS1144913 (human)		2e-13	3-hydroxybutyroylglycine measurement		2	210675783	210675784	Human
597071367	GWAS1167441_H	serum alanine aminotransferase measurement QTL GWAS1167441 (human)		6e-18	serum alanine aminotransferase measurement		2	210675783	210675784	Human
597163524	GWAS1259598_H	fibrinogen measurement, coronary artery disease QTL GWAS1259598 (human)		2e-15	glycine measurement		2	210678331	210678332	Human
616489261	GWAS1885844_H	creatine amount QTL GWAS1885844 (human)		2e-41	creatine amount		2	210675783	210675784	Human
597167628	GWAS1263702_H	serum alanine aminotransferase measurement QTL GWAS1263702 (human)		1e-19	serum alanine aminotransferase measurement		2	210675783	210675784	Human
616493355	GWAS1889938_H	blood urea nitrogen amount QTL GWAS1889938 (human)		3e-40	glomerular filtration rate		2	210675783	210675784	Human
407279056	GWAS928032_H	platelet count QTL GWAS928032 (human)		7e-56	creatine measurement		2	210675783	210675784	Human
617113937	GWAS2131436_H	level of coagulation factor XIII B chain in blood serum QTL GWAS2131436 (human)		7e-23	level of meprin A subunit alpha in blood serum		2	210675783	210675784	Human
597038605	GWAS1134679_H	high density lipoprotein cholesterol measurement QTL GWAS1134679 (human)		3e-20	monocyte chemotactic protein 3 measurement		2	210675783	210675784	Human
598033979	GWAS1753278_H	glomerular filtration rate QTL GWAS1753278 (human)		1e-158	glomerular filtration rate		2	210675783	210675784	Human
597313083	GWAS1409157_H	hexanoylglycine measurement QTL GWAS1409157 (human)		3e-62	hexanoylglycine measurement		2	210675783	210675784	Human
626446583	GWAS2260516_H	eosinophil count QTL GWAS2260516 (human)		7e-17	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	2	210678331	210678332	Human
598009351	GWAS1728650_H	ALDH1A1/CA3 protein level ratio in blood QTL GWAS1728650 (human)		2e-42	ALDH1A1/CA3 protein level ratio in blood		2	210675783	210675784	Human
407141859	GWAS790835_H	serum metabolite measurement QTL GWAS790835 (human)		7e-83	serum metabolite measurement		2	210675783	210675784	Human
597280318	GWAS1376392_H	gamma-glutamylglycine measurement QTL GWAS1376392 (human)		9e-22	gamma-glutamylglycine measurement		2	210675783	210675784	Human
407141868	GWAS790844_H	serum metabolite measurement QTL GWAS790844 (human)		3e-64	serum metabolite measurement		2	210675783	210675784	Human
406945256	GWAS594232_H	eosinophil percentage of leukocytes QTL GWAS594232 (human)		4e-27	glutamine measurement		2	210678331	210678332	Human
407141870	GWAS790846_H	serum metabolite measurement QTL GWAS790846 (human)		1e-42	serine measurement		2	210675783	210675784	Human
407238120	GWAS887096_H	venous thromboembolism, fibrinogen measurement QTL GWAS887096 (human)		3e-19	venous thromboembolism, fibrinogen measurement		2	210678331	210678332	Human
597186102	GWAS1282176_H	propionylglycine measurement QTL GWAS1282176 (human)		9e-96	glycine measurement		2	210675783	210675784	Human
407141867	GWAS790843_H	serum metabolite measurement QTL GWAS790843 (human)		7e-25	serum metabolite measurement		2	210675783	210675784	Human
597186103	GWAS1282177_H	butyrylglycine measurement QTL GWAS1282177 (human)		7e-55	butyrylglycine measurement		2	210675783	210675784	Human
628832468	GWAS2740697_H	histidine measurement QTL GWAS2740697 (human)		6e-27	blood L-hisitidine amount (VT:0010976)	blood amino acid measurement (CMO:0003730)	2	210678331	210678332	Human
407141876	GWAS790852_H	serum metabolite measurement QTL GWAS790852 (human)		2e-50	serine measurement		2	210675783	210675784	Human
628816073	GWAS2724302_H	glomerular filtration rate QTL GWAS2724302 (human)		4e-18	glomerular filtration rate		2	210678331	210678332	Human
617134462	GWAS2151961_H	level of Xaa-Pro dipeptidase in blood QTL GWAS2151961 (human)		7e-22	level of Xaa-Pro dipeptidase in blood		2	210675783	210675784	Human
617116016	GWAS2133515_H	Abnormality of the skeletal system QTL GWAS2133515 (human)		4e-25	Abnormality of the skeletal system		2	210675783	210675784	Human
407141885	GWAS790861_H	serum metabolite measurement QTL GWAS790861 (human)		9e-116	serum metabolite measurement		2	210675783	210675784	Human
597356064	GWAS1452138_H	body height QTL GWAS1452138 (human)		4e-40	body height		2	210675783	210675784	Human
628480203	GWAS2388432_H	serum alanine aminotransferase amount QTL GWAS2388432 (human)		6e-18	serum alanine aminotransferase amount		2	210675783	210675784	Human
597296677	GWAS1392751_H	threonine measurement QTL GWAS1392751 (human)		4e-17	threonine measurement		2	210678331	210678332	Human
407002498	GWAS651474_H	lymphocyte count QTL GWAS651474 (human)		4e-14	alkaline phosphatase measurement		2	210675783	210675784	Human
407063938	GWAS712914_H	metabolite measurement QTL GWAS712914 (human)		5e-18	metabolite measurement		2	210678331	210678332	Human
407397770	GWAS1046746_H	tigloylglycine measurement QTL GWAS1046746 (human)		7e-15	tigloylglycine measurement		2	210675783	210675784	Human
407080320	GWAS729296_H	X-25420 measurement QTL GWAS729296 (human)		2e-14	X-25420 measurement		2	210678331	210678332	Human
407397771	GWAS1046747_H	tigloylglycine measurement QTL GWAS1046747 (human)		3e-47	tigloylglycine measurement		2	210675783	210675784	Human
407397772	GWAS1046748_H	metabolite measurement QTL GWAS1046748 (human)		9e-36	metabolite measurement		2	210675783	210675784	Human
407397773	GWAS1046749_H	3-methylglutaconate measurement QTL GWAS1046749 (human)		4e-57	3-methylglutaconate measurement		2	210675783	210675784	Human
628426928	GWAS2335157_H	eosinophil count QTL GWAS2335157 (human)		7e-15	blood L-aspartic acid amount (VT:0010969)	blood eosinophil count (CMO:0000033)	2	210678331	210678332	Human
407397774	GWAS1046750_H	3-methylglutaconate measurement QTL GWAS1046750 (human)		3e-70	3-methylglutaconate measurement		2	210675783	210675784	Human
628719793	GWAS2628022_H	blood urea nitrogen amount QTL GWAS2628022 (human)		3e-40	glomerular filtration rate		2	210675783	210675784	Human
597597773	GWAS1654633_H	serum alanine aminotransferase measurement QTL GWAS1654633 (human)		6e-14	serum homoarginine measurement		2	210675783	210675784	Human
407317907	GWAS966883_H	urate measurement QTL GWAS966883 (human)		0.000001	urate measurement		2	210675783	210675784	Human
597812852	GWAS1680243_H	high density lipoprotein cholesterol measurement QTL GWAS1680243 (human)		5e-16	high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
616479080	GWAS1875663_H	serum metabolite level, glycine measurement QTL GWAS1875663 (human)		1e-32	urate measurement		2	210678331	210678332	Human
628375714	GWAS2295938_H	alcohol consumption quality, high density lipoprotein cholesterol measurement QTL GWAS2295938 (human)		4e-12	alcohol consumption quality, high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
597313091	GWAS1409165_H	metabolite measurement QTL GWAS1409165 (human)		8e-14	metabolite measurement		2	210675783	210675784	Human
628482220	GWAS2390449_H	mean corpuscular hemoglobin QTL GWAS2390449 (human)		5e-08	blood IDL cholesterol amount (VT:0010503)	blood intermediate density lipoprotein cholesterol level (CMO:0001562)	2	210675783	210675784	Human
628865186	GWAS2773415_H	N-palmitoylglycine measurement QTL GWAS2773415 (human)		4e-26	N-palmitoylglycine measurement		2	210675783	210675784	Human
597993086	GWAS1712385_H	glomerular filtration rate QTL GWAS1712385 (human)		2e-29	plasma betaine measurement		2	210675783	210675784	Human
628836513	GWAS2744742_H	cerebrospinal fluid composition attribute QTL GWAS2744742 (human)		5e-19	cerebrospinal fluid composition attribute		2	210678331	210678332	Human
617191703	GWAS2172143_H	interleukin-27 measurement QTL GWAS2172143 (human)		3e-14	interleukin-27 measurement		2	210675783	210675784	Human
407164325	GWAS813301_H	leukocyte count QTL GWAS813301 (human)		9e-16	5-hydroxymethyl-2-furoylcarnitine measurement		2	210675783	210675784	Human
616474975	GWAS1871558_H	blood urea nitrogen amount QTL GWAS1871558 (human)		1e-15	blood urea nitrogen amount		2	210675783	210675784	Human
407088545	GWAS737521_H	urinary metabolite measurement QTL GWAS737521 (human)		1e-12	hexanoylglycine measurement		2	210675783	210675784	Human
616530268	GWAS1926851_H	serum creatinine amount QTL GWAS1926851 (human)		1e-126	serum creatinine amount		2	210675783	210675784	Human
597038719	GWAS1134793_H	urinary metabolite measurement QTL GWAS1134793 (human)		2e-21	urinary metabolite measurement		2	210675783	210675784	Human
597038716	GWAS1134790_H	urinary metabolite measurement QTL GWAS1134790 (human)		3e-25	urinary metabolite measurement		2	210675783	210675784	Human
628596893	GWAS2505122_H	histidine measurement QTL GWAS2505122 (human)		3e-56	blood L-hisitidine amount (VT:0010976)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
597038717	GWAS1134791_H	urinary metabolite measurement QTL GWAS1134791 (human)		5e-26	urinary metabolite measurement		2	210675783	210675784	Human
628498586	GWAS2406815_H	urate measurement QTL GWAS2406815 (human)		6e-11	blood HDL cholesterol amount (VT:0000184)	blood high density lipoprotein cholesterol level (CMO:0000052)	2	210675783	210675784	Human
597038715	GWAS1134789_H	urinary metabolite measurement QTL GWAS1134789 (human)		4e-14	alkaline phosphatase measurement		2	210675783	210675784	Human
407068077	GWAS717053_H	glomerular filtration rate QTL GWAS717053 (human)		3e-33	glomerular filtration rate		2	210675783	210675784	Human
597038712	GWAS1134786_H	urinary metabolite measurement QTL GWAS1134786 (human)		3e-22	metabolite measurement		2	210675783	210675784	Human
597595756	GWAS1652616_H	creatinine measurement QTL GWAS1652616 (human)		6e-95	creatinine measurement		2	210675783	210675784	Human
406930869	GWAS579845_H	educational attainment QTL GWAS579845 (human)		7e-19	educational attainment		2	210602824	210602825	Human
628873358	GWAS2781587_H	protein measurement QTL GWAS2781587 (human)		5e-22	protein amount (VT:0010120)		2	210481327	210481328	Human
628863116	GWAS2771345_H	X-21467 measurement QTL GWAS2771345 (human)		1e-37	X-21467 measurement		2	210675783	210675784	Human
628674688	GWAS2582917_H	urate measurement QTL GWAS2582917 (human)		2e-36	blood L-serine amount (VT:0010966)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
628867202	GWAS2775431_H	plasma betaine measurement QTL GWAS2775431 (human)		9e-48	plasma betaine measurement		2	210675783	210675784	Human
597231207	GWAS1327281_H	blood protein measurement QTL GWAS1327281 (human)		2e-28	blood protein measurement		2	210675783	210675784	Human
597185948	GWAS1282022_H	N-acetylglycine measurement QTL GWAS1282022 (human)		1e-129	N-acetylglycine measurement		2	210675783	210675784	Human
628673405	GWAS2581634_H	urate measurement QTL GWAS2581634 (human)		2e-25	blood cystatin C amount (VT:0010743)	blood cystatin C level (CMO:0002777)	2	210675783	210675784	Human
628702079	GWAS2610308_H	metabolite measurement QTL GWAS2610308 (human)		7e-73	metabolite measurement		2	210675783	210675784	Human
597020061	GWAS1116135_H	fibrinogen measurement QTL GWAS1116135 (human)		4e-16	glutaroyl carnitine measurement		2	210678331	210678332	Human
407350861	GWAS999837_H	citrate measurement QTL GWAS999837 (human)		7e-21	serum homoarginine measurement		2	210675783	210675784	Human
407295565	GWAS944541_H	systolic blood pressure QTL GWAS944541 (human)		1e-14	metabolite measurement		2	210675783	210675784	Human
628458361	GWAS2366590_H	glomerular filtration rate QTL GWAS2366590 (human)		0.000004	glomerular filtration rate		2	210675783	210675784	Human
628382585	GWAS2302809_H	serum metabolite level QTL GWAS2302809 (human)		5e-20	serum metabolite level		2	210675783	210675784	Human
628685672	GWAS2593901_H	brain attribute QTL GWAS2593901 (human)		5e-14	brain attribute		2	210597156	210597157	Human
407400025	GWAS1049001_H	bilirubin measurement QTL GWAS1049001 (human)		5e-24	bilirubin measurement		2	210675783	210675784	Human
407090775	GWAS739751_H	urinary metabolite measurement QTL GWAS739751 (human)		3e-22	metabolite measurement		2	210675783	210675784	Human
597089666	GWAS1185740_H	Red cell distribution width QTL GWAS1185740 (human)		2e-12	leukocyte count		2	210675783	210675784	Human
407385695	GWAS1034671_H	appendicular lean mass QTL GWAS1034671 (human)		6e-31	appendicular lean mass		2	210675783	210675784	Human
597161344	GWAS1257418_H	histidine measurement QTL GWAS1257418 (human)		3e-56	histidine measurement		2	210675783	210675784	Human
407395920	GWAS1044896_H	isobutyrylglycine measurement QTL GWAS1044896 (human)		3e-57	isobutyrylglycine measurement		2	210675783	210675784	Human
616508069	GWAS1904652_H	serum alanine aminotransferase amount QTL GWAS1904652 (human)		4e-15	alkaline phosphatase measurement		2	210675783	210675784	Human
597134731	GWAS1230805_H	pulse pressure measurement QTL GWAS1230805 (human)		5e-09	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	210675783	210675784	Human
407395926	GWAS1044902_H	indolepropionylglycine measurement QTL GWAS1044902 (human)		9e-20	indolepropionylglycine measurement		2	210675783	210675784	Human
597136823	GWAS1232897_H	hexanoylglycine measurement QTL GWAS1232897 (human)		1e-85	hexanoylglycine measurement		2	210675783	210675784	Human
597267899	GWAS1363973_H	metabolite measurement QTL GWAS1363973 (human)		6e-40	metabolite measurement		2	210675783	210675784	Human
597267898	GWAS1363972_H	metabolite measurement QTL GWAS1363972 (human)		4e-32	metabolite measurement		2	210675783	210675784	Human
597319097	GWAS1415171_H	isobutyrylglycine measurement QTL GWAS1415171 (human)		3e-93	isobutyrylglycine measurement		2	210675783	210675784	Human
628865886	GWAS2774115_H	cinnamoylglycine measurement QTL GWAS2774115 (human)		4e-27	cinnamoylglycine measurement		2	210675783	210675784	Human
598021517	GWAS1740816_H	serum creatinine amount QTL GWAS1740816 (human)		3e-14	serum creatinine amount		2	210675783	210675784	Human
597978509	GWAS1697808_H	circulating fibrinogen levels QTL GWAS1697808 (human)		4e-16	circulating fibrinogen levels		2	210678331	210678332	Human
628814677	GWAS2722906_H	trait in response to warfarin QTL GWAS2722906 (human)		0.000008	trait in response to warfarin		2	210541483	210541484	Human
628759373	GWAS2667602_H	X-25420 measurement QTL GWAS2667602 (human)		2e-14	X-25420 measurement		2	210678331	210678332	Human
407164540	GWAS813516_H	protein measurement QTL GWAS813516 (human)		5e-12	choline measurement		2	210675783	210675784	Human
597321122	GWAS1417196_H	X-21467 measurement QTL GWAS1417196 (human)		1e-37	X-21467 measurement		2	210675783	210675784	Human
616501893	GWAS1898476_H	level of podocalyxin-like protein 2 in blood serum QTL GWAS1898476 (human)		6e-19	level of podocalyxin-like protein 2 in blood serum		2	210675783	210675784	Human
597153196	GWAS1249270_H	lipid measurement, high density lipoprotein cholesterol measurement QTL GWAS1249270 (human)		2e-09	systolic blood pressure		2	210675783	210675784	Human
597325217	GWAS1421291_H	level of N-oxalylglycine in blood QTL GWAS1421291 (human)		5e-19	level of N-oxalylglycine in blood		2	210675783	210675784	Human
628833094	GWAS2741323_H	carnitine measurement QTL GWAS2741323 (human)		3e-91	blood carnitine amount (VT:0003977)		2	210675783	210675784	Human
628372298	GWAS2293142_H	fibroblast growth factor 21 level QTL GWAS2293142 (human)		4e-21	fibroblast growth factor 21 level		2	210675783	210675784	Human
597112275	GWAS1208349_H	erythrocyte count QTL GWAS1208349 (human)		5e-12	choline amount (VT:0011000)	red blood cell count (CMO:0000025)	2	210675783	210675784	Human
407340559	GWAS989535_H	glutamine measurement QTL GWAS989535 (human)		2e-08	glutamine measurement		2	210554166	210554167	Human
597056990	GWAS1153064_H	eosinophil count QTL GWAS1153064 (human)		7e-15	aspartate measurement		2	210678331	210678332	Human
628884277	GWAS2792506_H	alcohol consumption quality QTL GWAS2792506 (human)		2e-08	alcohol consumption quality		2	210589409	210589410	Human
597284308	GWAS1380382_H	histidine measurement QTL GWAS1380382 (human)		4e-43	histidine measurement		2	210675783	210675784	Human
616569486	GWAS1966069_H	fibroblast growth factor 21 amount QTL GWAS1966069 (human)		4e-21	fibroblast growth factor 21 amount		2	210675783	210675784	Human
597028295	GWAS1124369_H	blood urea nitrogen measurement QTL GWAS1124369 (human)		1e-15	blood urea nitrogen measurement		2	210675783	210675784	Human
628493090	GWAS2401319_H	serum creatinine amount QTL GWAS2401319 (human)		3e-14	erythrocyte morphology trait (VT:0002447)	hematocrit (CMO:0000037)	2	210675783	210675784	Human
597026243	GWAS1122317_H	high density lipoprotein cholesterol measurement QTL GWAS1122317 (human)		0.0000004	blood HDL cholesterol amount (VT:0000184)	blood high density lipoprotein cholesterol level (CMO:0000052)	2	210675783	210675784	Human
597278144	GWAS1374218_H	glycine measurement QTL GWAS1374218 (human)		8e-90	glycine measurement		2	210675783	210675784	Human
406920731	GWAS569707_H	mean platelet volume QTL GWAS569707 (human)		7e-14	body weight		2	210675783	210675784	Human
628472623	GWAS2380852_H	BLVRB/CA3 protein level ratio in blood QTL GWAS2380852 (human)		2e-59	BLVRB/CA3 protein level ratio in blood		2	210675783	210675784	Human
628624162	GWAS2532391_H	blood urea nitrogen amount QTL GWAS2532391 (human)		1e-15	blood urea nitrogen amount		2	210675783	210675784	Human
597302727	GWAS1398801_H	glomerular filtration rate QTL GWAS1398801 (human)		2e-150	glomerular filtration rate		2	210675783	210675784	Human
597120503	GWAS1216577_H	platelet count QTL GWAS1216577 (human)		0.0000002	platelet count		2	210675783	210675784	Human
597079543	GWAS1175617_H	myeloid white cell count QTL GWAS1175617 (human)		2e-26	2-butenoylglycine measurement		2	210675783	210675784	Human
597992901	GWAS1712200_H	glomerular filtration rate QTL GWAS1712200 (human)		3e-33	glomerular filtration rate		2	210675783	210675784	Human
406959655	GWAS608631_H	alcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS608631 (human)		1e-13	N-palmitoylglycine measurement		2	210675783	210675784	Human
616489681	GWAS1886264_H	creatine amount QTL GWAS1886264 (human)		1e-24	creatine amount		2	210678331	210678332	Human
628708105	GWAS2616334_H	plasma betaine measurement QTL GWAS2616334 (human)		4e-13	arterial blood pressure trait (VT:2000000)	diastolic blood pressure (CMO:0000005)	2	210675783	210675784	Human
407053878	GWAS702854_H	glomerular filtration rate QTL GWAS702854 (human)		7e-117	glomerular filtration rate		2	210675783	210675784	Human
628443907	GWAS2352136_H	eosinophil percentage of leukocytes QTL GWAS2352136 (human)		4e-27	blood L-glutamine amount (VT:0010972)	blood amino acid measurement (CMO:0003730)	2	210678331	210678332	Human
628673294	GWAS2581523_H	tigloylglycine measurement QTL GWAS2581523 (human)		8e-29	X-17325 measurement		2	210675783	210675784	Human
626459424	GWAS2273357_H	leukocyte quantity QTL GWAS2273357 (human)		5e-21	leukocyte quantity		2	210675783	210675784	Human
628859660	GWAS2767889_H	3-methylglutarylcarnitine (2) measurement QTL GWAS2767889 (human)		6e-16	gamma-glutamylthreonine measurement		2	210675783	210675784	Human
628759546	GWAS2667775_H	glycine measurement QTL GWAS2667775 (human)		1e-324	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
407219908	GWAS868884_H	cinnamoylglycine measurement QTL GWAS868884 (human)		2e-36	urate measurement		2	210675783	210675784	Human
628376565	GWAS2296789_H	homocysteine measurement QTL GWAS2296789 (human)		9e-13	blood L-threonine amount (VT:0010983)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
628493303	GWAS2401532_H	glomerular filtration rate QTL GWAS2401532 (human)		3e-42	glomerular filtration rate		2	210675783	210675784	Human
597595418	GWAS1652278_H	blood urea nitrogen measurement QTL GWAS1652278 (human)		1e-14	blood urea nitrogen measurement		2	210675783	210675784	Human
628679677	GWAS2587906_H	trans-2-hexenoylglycine measurement QTL GWAS2587906 (human)		2e-22	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	2	210675783	210675784	Human
628757503	GWAS2665732_H	N-acetylglycine measurement QTL GWAS2665732 (human)		1e-129	N-acetylglycine measurement		2	210675783	210675784	Human
407047877	GWAS696853_H	quinolinic acid measurement QTL GWAS696853 (human)		3e-08	quinolinic acid measurement		2	210521940	210521941	Human
628376563	GWAS2296787_H	high density lipoprotein cholesterol measurement QTL GWAS2296787 (human)		9e-10	high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
626457553	GWAS2271486_H	erythrocyte count QTL GWAS2271486 (human)		6e-11	erythrocyte count		2	210678331	210678332	Human
628757491	GWAS2665720_H	serum homoarginine amount QTL GWAS2665720 (human)		2e-67	serum homoarginine amount		2	210675783	210675784	Human
597232917	GWAS1328991_H	appendicular lean mass QTL GWAS1328991 (human)		6e-31	appendicular lean mass		2	210675783	210675784	Human
406965964	GWAS614940_H	fibrinogen measurement QTL GWAS614940 (human)		2e-11	obsolete_red blood cell distribution width		2	210678331	210678332	Human
597032219	GWAS1128293_H	glomerular filtration rate QTL GWAS1128293 (human)		2e-29	plasma betaine measurement		2	210675783	210675784	Human
596968709	GWAS1088228_H	systolic blood pressure QTL GWAS1088228 (human)		5e-09	pulse pressure measurement		2	210675783	210675784	Human
628706281	GWAS2614510_H	metabolite measurement QTL GWAS2614510 (human)		9e-36	metabolite measurement		2	210675783	210675784	Human
628847595	GWAS2755824_H	serine measurement QTL GWAS2755824 (human)		2e-50	blood L-serine amount (VT:0010966)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
628863979	GWAS2772208_H	glycine measurement QTL GWAS2772208 (human)		2e-575	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
597312779	GWAS1408853_H	plasma betaine measurement QTL GWAS1408853 (human)		4e-13	diastolic blood pressure		2	210675783	210675784	Human
628818921	GWAS2727150_H	eosinophil count QTL GWAS2727150 (human)		4e-15	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	2	210678331	210678332	Human
597187852	GWAS1283926_H	3-hydroxybutyroylglycine measurement QTL GWAS1283926 (human)		6e-99	3-hydroxybutyroylglycine measurement		2	210675783	210675784	Human
407385823	GWAS1034799_H	X-17325 measurement QTL GWAS1034799 (human)		2e-57	X-17325 measurement		2	210675783	210675784	Human
616383012	GWAS1863254_H	obsolete_phospholipid measurement, high density lipoprotein cholesterol measurement QTL GWAS1863254 (human)		3e-08	obsolete_phospholipid measurement, high density lipoprotein cholesterol measurement		2	210645804	210645805	Human
628610024	GWAS2518253_H	cerebrospinal fluid composition attribute, serine measurement QTL GWAS2518253 (human)		2e-17	blood L-serine amount (VT:0010966)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
407357159	GWAS1006135_H	histidine measurement QTL GWAS1006135 (human)		4e-43	histidine measurement		2	210675783	210675784	Human
597183801	GWAS1279875_H	glycosyl-N-(2-hydroxynervonoyl)-sphingosine (d18:1/24:1(2OH)) measurement QTL GWAS1279875 (human)		9e-12	glycosyl-N-(2-hydroxynervonoyl)-sphingosine (d18:1/24:1(2OH)) measurement		2	210675783	210675784	Human
617132650	GWAS2150149_H	Abnormality of the skeletal system QTL GWAS2150149 (human)		8e-28	Abnormality of the skeletal system		2	210675783	210675784	Human
628442067	GWAS2350296_H	mean corpuscular hemoglobin concentration QTL GWAS2350296 (human)		5e-31	erythrocyte hemoglobin amount (VT:0010953)	mean corpuscular hemoglobin concentration (CMO:0000291)	2	210675783	210675784	Human
628499408	GWAS2407637_H	urate measurement QTL GWAS2407637 (human)		2e-08	blood IDL cholesterol amount (VT:0010503)	blood intermediate density lipoprotein cholesterol level (CMO:0001562)	2	210675783	210675784	Human
407383791	GWAS1032767_H	taurocholenate sulfate measurement QTL GWAS1032767 (human)		4e-13	plasma betaine measurement		2	210675783	210675784	Human
628718544	GWAS2626773_H	carbonic anhydrase 3 measurement QTL GWAS2626773 (human)		9e-34	carbonic anhydrase 3 measurement		2	210675783	210675784	Human
628599773	GWAS2508002_H	glycine measurement QTL GWAS2508002 (human)		1e-3580	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
628599772	GWAS2508001_H	glycine measurement QTL GWAS2508001 (human)		7e-09	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210576771	210576772	Human
407365355	GWAS1014331_H	blood protein measurement QTL GWAS1014331 (human)		3e-67	blood protein measurement		2	210675783	210675784	Human
628599771	GWAS2508000_H	glycine measurement QTL GWAS2508000 (human)		1e-23	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210572663	210572664	Human
628997073	GWAS2905302_H	mean corpuscular hemoglobin concentration QTL GWAS2905302 (human)		9e-18	erythrocyte hemoglobin amount (VT:0010953)	mean corpuscular hemoglobin concentration (CMO:0000291)	2	210675783	210675784	Human
407398117	GWAS1047093_H	metabolite measurement QTL GWAS1047093 (human)		3e-31	metabolite measurement		2	210675783	210675784	Human
628599770	GWAS2507999_H	glycine measurement QTL GWAS2507999 (human)		2e-08	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210525055	210525056	Human
628472795	GWAS2381024_H	CA1/CA3 protein level ratio in blood QTL GWAS2381024 (human)		3e-67	CA1/CA3 protein level ratio in blood		2	210675783	210675784	Human
628480986	GWAS2389215_H	serum creatinine amount QTL GWAS2389215 (human)		2e-12	platelet quantity (VT:0003179)	plateletcrit (CMO:0001349)	2	210678331	210678332	Human
407414521	GWAS1063497_H	body height QTL GWAS1063497 (human)		4e-40	body height		2	210675783	210675784	Human
616512014	GWAS1908597_H	serum alanine aminotransferase amount QTL GWAS1908597 (human)		3e-18	serum alanine aminotransferase amount		2	210678331	210678332	Human
628687816	GWAS2596045_H	Abnormality of the skeletal system QTL GWAS2596045 (human)		1e-32	Abnormality of the skeletal system		2	210675783	210675784	Human
628562885	GWAS2471114_H	Ly6/PLAUR domain-containing protein 3 measurement QTL GWAS2471114 (human)		7e-19	Ly6/PLAUR domain-containing protein 3 measurement		2	210675783	210675784	Human
597812501	GWAS1679892_H	high density lipoprotein cholesterol measurement QTL GWAS1679892 (human)		4e-12	diastolic blood pressure		2	210675783	210675784	Human
597306668	GWAS1402742_H	metabolite measurement QTL GWAS1402742 (human)		2e-39	metabolite measurement		2	210675783	210675784	Human
407361264	GWAS1010240_H	urate measurement QTL GWAS1010240 (human)		2e-25	N-acetylglycine measurement		2	210675783	210675784	Human
407357181	GWAS1006157_H	creatinine measurement QTL GWAS1006157 (human)		8e-31	serum alanine aminotransferase measurement		2	210675783	210675784	Human
628675513	GWAS2583742_H	3-methylglutaconate measurement QTL GWAS2583742 (human)		1e-121	serum creatinine amount		2	210675783	210675784	Human
628763579	GWAS2671808_H	color vision disorder QTL GWAS2671808 (human)		0.000009	color vision disorder		2	210673731	210673732	Human
616483452	GWAS1880035_H	serum metabolite level QTL GWAS1880035 (human)		4e-12	serum metabolite level		2	210678331	210678332	Human
628675515	GWAS2583744_H	3-methylglutarylcarnitine (2) measurement QTL GWAS2583744 (human)		7e-85	3-methylglutarylcarnitine (2) measurement		2	210675783	210675784	Human
407369346	GWAS1018322_H	blood protein measurement QTL GWAS1018322 (human)		1e-16	X-17325 measurement		2	210675783	210675784	Human
598048099	GWAS1767398_H	serum homoarginine amount QTL GWAS1767398 (human)		5e-47	serum homoarginine amount		2	210675783	210675784	Human
597179731	GWAS1275805_H	histidine measurement QTL GWAS1275805 (human)		5e-49	histidine measurement		2	210675783	210675784	Human
628382628	GWAS2302852_H	serum metabolite level QTL GWAS2302852 (human)		1e-42	serum metabolite level		2	210675783	210675784	Human
628382629	GWAS2302853_H	serum metabolite level QTL GWAS2302853 (human)		8e-17	blood HDL cholesterol amount (VT:0000184)	blood high density lipoprotein cholesterol level (CMO:0000052)	2	210675783	210675784	Human
597071170	GWAS1167244_H	mean corpuscular hemoglobin QTL GWAS1167244 (human)		5e-08	cholesteryl esters:total lipids ratio, intermediate density lipoprotein measurement		2	210675783	210675784	Human
597822838	GWAS1690229_H	factor XI measurement, factor VII measurement QTL GWAS1690229 (human)		2e-17	X-16570 measurement		2	210678331	210678332	Human
628675500	GWAS2583729_H	glycine measurement QTL GWAS2583729 (human)		5e-303	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
617101843	GWAS2119342_H	mean corpuscular hemoglobin QTL GWAS2119342 (human)		4e-28	mean corpuscular hemoglobin		2	210675783	210675784	Human
407350951	GWAS999927_H	serum alanine aminotransferase measurement QTL GWAS999927 (human)		1e-19	serum alanine aminotransferase measurement		2	210675783	210675784	Human
597312890	GWAS1408964_H	metabolite measurement QTL GWAS1408964 (human)		7e-28	metabolite measurement		2	210678331	210678332	Human
628867995	GWAS2776224_H	arginine measurement QTL GWAS2776224 (human)		4e-14	arginine measurement		2	210678331	210678332	Human
597599615	GWAS1656475_H	mean corpuscular hemoglobin concentration QTL GWAS1656475 (human)		2e-12	Red cell distribution width		2	210675783	210675784	Human
597208443	GWAS1304517_H	protein measurement QTL GWAS1304517 (human)		2e-08	protein amount (VT:0010120)		2	210529463	210529464	Human
597314937	GWAS1411011_H	gamma-glutamylglycine measurement QTL GWAS1411011 (human)		1e-57	gamma-glutamylglycine measurement		2	210675783	210675784	Human
626441138	GWAS2255071_H	aspartate measurement QTL GWAS2255071 (human)		7e-15	aspartate measurement		2	210678331	210678332	Human
597106033	GWAS1202107_H	sex hormone-binding globulin measurement QTL GWAS1202107 (human)		2e-44	sex hormone-binding globulin measurement		2	210675783	210675784	Human
628370332	GWAS2291176_H	hepatocyte growth factor activator level QTL GWAS2291176 (human)		7e-42	hepatocyte growth factor activator level		2	210675783	210675784	Human
628462495	GWAS2370724_H	systolic blood pressure QTL GWAS2370724 (human)		1e-14	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	210675783	210675784	Human
617134627	GWAS2152126_H	level of argininosuccinate synthase in blood QTL GWAS2152126 (human)		5e-29	level of argininosuccinate synthase in blood		2	210675783	210675784	Human
597097850	GWAS1193924_H	leukocyte count QTL GWAS1193924 (human)		9e-16	5-hydroxymethyl-2-furoylcarnitine measurement		2	210675783	210675784	Human
616378960	GWAS1859202_H	obsolete_blood urea nitrogen measurement QTL GWAS1859202 (human)		1e-15	obsolete_blood urea nitrogen measurement		2	210675783	210675784	Human
2293458	PRSTS291_H	Prostate tumor susceptibility QTL 291 (human)		0.012	Prostate tumor susceptibility		2	200715236	226715236	Human
597826896	GWAS1694287_H	body weight QTL GWAS1694287 (human)		7e-14	body weight		2	210675783	210675784	Human
407365310	GWAS1014286_H	blood protein measurement QTL GWAS1014286 (human)		2e-28	blood protein measurement		2	210675783	210675784	Human
597161325	GWAS1257399_H	glutamine measurement QTL GWAS1257399 (human)		2e-08	glutamine measurement		2	210554166	210554167	Human
407391924	GWAS1040900_H	gamma-glutamylglycine measurement QTL GWAS1040900 (human)		1e-151	gamma-glutamylglycine measurement		2	210675783	210675784	Human
597826910	GWAS1694301_H	blood urea nitrogen measurement QTL GWAS1694301 (human)		2e-47	blood urea nitrogen measurement		2	210675783	210675784	Human
628702085	GWAS2610314_H	isovalerylglycine measurement QTL GWAS2610314 (human)		4e-34	cerebrospinal fluid composition attribute, N-acetylglycine measurement		2	210675783	210675784	Human
628880263	GWAS2788492_H	high density lipoprotein cholesterol measurement QTL GWAS2788492 (human)		8e-25	blood HDL cholesterol amount (VT:0000184)	blood high density lipoprotein cholesterol level (CMO:0000052)	2	210675783	210675784	Human
596950377	GWAS1069896_H	Red cell distribution width QTL GWAS1069896 (human)		2e-12	metabolite measurement		2	210675783	210675784	Human
407008957	GWAS657933_H	uric acid measurement QTL GWAS657933 (human)		0.000002	uric acid measurement		2	210678331	210678332	Human
407170747	GWAS819723_H	sex hormone-binding globulin measurement QTL GWAS819723 (human)		2e-44	sex hormone-binding globulin measurement		2	210675783	210675784	Human
597816487	GWAS1683878_H	sex hormone-binding globulin measurement QTL GWAS1683878 (human)		1e-30	sex hormone-binding globulin measurement		2	210675783	210675784	Human
628847219	GWAS2755448_H	N-acetylglycine measurement QTL GWAS2755448 (human)		1e-341	N-acetylglycine measurement		2	210675783	210675784	Human
407068499	GWAS717475_H	glomerular filtration rate QTL GWAS717475 (human)		2e-62	glomerular filtration rate		2	210675783	210675784	Human
597306507	GWAS1402581_H	brain measurement QTL GWAS1402581 (human)		5e-14	brain measurement		2	210597156	210597157	Human
628759148	GWAS2667377_H	isovalerylglycine measurement QTL GWAS2667377 (human)		2e-34	isovalerylglycine measurement		2	210675783	210675784	Human
597120143	GWAS1216217_H	blood protein measurement QTL GWAS1216217 (human)		1e-16	X-17325 measurement		2	210675783	210675784	Human
597025935	GWAS1122009_H	high density lipoprotein cholesterol measurement QTL GWAS1122009 (human)		0.0000003	lean body mass		2	210675783	210675784	Human
617122770	GWAS2140269_H	Abnormality of the skeletal system QTL GWAS2140269 (human)		1e-32	Abnormality of the skeletal system		2	210675783	210675784	Human
597986495	GWAS1705794_H	leukocyte quantity QTL GWAS1705794 (human)		9e-16	5-hydroxymethyl-2-furoylcarnitine measurement		2	210675783	210675784	Human
597314746	GWAS1410820_H	metabolite measurement QTL GWAS1410820 (human)		5e-18	metabolite measurement		2	210678331	210678332	Human
598011014	GWAS1730313_H	APP/DKK1 protein level ratio in blood QTL GWAS1730313 (human)		1e-22	APP/DKK1 protein level ratio in blood		2	210675783	210675784	Human
617059298	GWAS2076797_H	serum creatinine amount QTL GWAS2076797 (human)		2e-126	serum creatinine amount		2	210675783	210675784	Human
597314748	GWAS1410822_H	metabolite measurement QTL GWAS1410822 (human)		1e-26	metabolite measurement		2	210678331	210678332	Human
598051970	GWAS1771269_H	serum creatinine amount, glycine measurement QTL GWAS1771269 (human)		3e-37	serum creatinine amount, glycine measurement		2	210675783	210675784	Human
597302450	GWAS1398524_H	platelet count QTL GWAS1398524 (human)		7e-47	platelet count		2	210675783	210675784	Human
407322478	GWAS971454_H	albuminuria QTL GWAS971454 (human)		4e-08	urate measurement		2	210675783	210675784	Human
628865618	GWAS2773847_H	serum homoarginine amount QTL GWAS2773847 (human)		6e-152	serum homoarginine amount		2	210675783	210675784	Human
628705875	GWAS2614104_H	propionylglycine measurement QTL GWAS2614104 (human)		3e-39	propionylglycine measurement		2	210675783	210675784	Human
407007081	GWAS656057_H	mean corpuscular volume QTL GWAS656057 (human)		4e-11	metabolite measurement		2	210675783	210675784	Human
407392099	GWAS1041075_H	metabolite measurement QTL GWAS1041075 (human)		1e-39	metabolite measurement		2	210675783	210675784	Human
407392103	GWAS1041079_H	metabolite measurement QTL GWAS1041079 (human)		1e-31	metabolite measurement		2	210675783	210675784	Human
628822612	GWAS2730841_H	platelet volume QTL GWAS2730841 (human)		5e-64	platelet volume		2	210675783	210675784	Human
597605551	GWAS1662411_H	serum alanine aminotransferase measurement QTL GWAS1662411 (human)		3e-18	serum alanine aminotransferase measurement		2	210678331	210678332	Human
597587117	GWAS1643977_H	glomerular filtration rate QTL GWAS1643977 (human)		5e-43	glomerular filtration rate		2	210675783	210675784	Human
407175024	GWAS824000_H	neutrophil count QTL GWAS824000 (human)		9e-21	macular telangiectasia type 2		2	210675783	210675784	Human
407005047	GWAS654023_H	mean corpuscular volume QTL GWAS654023 (human)		9e-41	mean corpuscular volume		2	210675783	210675784	Human
628865614	GWAS2773843_H	hexanoylglycine measurement QTL GWAS2773843 (human)		1e-85	hexanoylglycine measurement		2	210675783	210675784	Human
628693583	GWAS2601812_H	Abnormality of the skeletal system QTL GWAS2601812 (human)		8e-28	Abnormality of the skeletal system		2	210675783	210675784	Human
597163168	GWAS1259242_H	factor XI measurement, fibrinogen measurement, tissue plasminogen activator measurement, factor VII measurement QTL GWAS1259242 (human)		2e-17	X-16570 measurement		2	210678331	210678332	Human
628834883	GWAS2743112_H	factor XI measurement, circulating fibrinogen levels, tissue plasminogen activator amount, factor VII measurement QTL GWAS2743112 (human)		2e-17	blood coagulation trait (VT:0002551)		2	210678331	210678332	Human
628793926	GWAS2702155_H	glycine measurement QTL GWAS2702155 (human)		2e-147	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210678331	210678332	Human
407113595	GWAS762571_H	eosinophil count QTL GWAS762571 (human)		7e-17	eosinophil count		2	210678331	210678332	Human
628867643	GWAS2775872_H	creatine level QTL GWAS2775872 (human)		3e-59	creatine level		2	210675783	210675784	Human
616557566	GWAS1954149_H	carbonic anhydrase 3 measurement QTL GWAS1954149 (human)		9e-34	carbonic anhydrase 3 measurement		2	210675783	210675784	Human
617124746	GWAS2142245_H	eosinophil percentage of leukocytes QTL GWAS2142245 (human)		7e-30	eosinophil percentage of leukocytes		2	210678331	210678332	Human
628832828	GWAS2741057_H	calcium measurement QTL GWAS2741057 (human)		3e-08	calcium amount (VT:0010499)	blood calcium level (CMO:0000502)	2	210678331	210678332	Human
597116124	GWAS1212198_H	urinary sodium to creatinine ratio QTL GWAS1212198 (human)		3e-18	urinary albumin to creatinine ratio		2	210675783	210675784	Human
628556346	GWAS2464575_H	ribonuclease 4 measurement QTL GWAS2464575 (human)		3e-15	ribonuclease 4 measurement		2	210678331	210678332	Human
407004946	GWAS653922_H	mean corpuscular hemoglobin concentration QTL GWAS653922 (human)		6e-39	mean corpuscular hemoglobin concentration		2	210675783	210675784	Human
596952262	GWAS1071781_H	Chronic pain QTL GWAS1071781 (human)		1e-08	Chronic pain		2	210559053	210559054	Human
617128858	GWAS2146357_H	platelet count QTL GWAS2146357 (human)		4e-55	platelet count		2	210675783	210675784	Human
597998839	GWAS1718138_H	erythrocyte volume QTL GWAS1718138 (human)		1e-20	erythrocyte volume		2	210675783	210675784	Human
628415011	GWAS2323240_H	high density lipoprotein cholesterol measurement QTL GWAS2323240 (human)		0.0000003	body lean mass (VT:0010483)	total body lean mass (CMO:0003950)	2	210675783	210675784	Human
597593284	GWAS1650144_H	platelet count QTL GWAS1650144 (human)		9e-16	platelet count		2	210678331	210678332	Human
628918823	GWAS2827052_H	triglyceride measurement QTL GWAS2827052 (human)		5e-13	triglyceride amount (VT:0000187)	blood triglyceride level (CMO:0000118)	2	210562250	210562251	Human
597304518	GWAS1400592_H	mean corpuscular volume QTL GWAS1400592 (human)		7e-29	mean corpuscular volume		2	210675783	210675784	Human
406970142	GWAS619118_H	fibrinogen measurement QTL GWAS619118 (human)		4e-16	glutaroyl carnitine measurement		2	210678331	210678332	Human
628834841	GWAS2743070_H	serum creatinine amount QTL GWAS2743070 (human)		1e-126	serum creatinine amount		2	210675783	210675784	Human
616520668	GWAS1917251_H	platelet volume QTL GWAS1917251 (human)		5e-64	platelet volume		2	210675783	210675784	Human
626450997	GWAS2264930_H	serum albumin amount QTL GWAS2264930 (human)		8e-09	serum albumin amount		2	210513011	210513012	Human
628865565	GWAS2773794_H	pyroglutamine measurement QTL GWAS2773794 (human)		3e-17	erythrocyte hemoglobin amount (VT:0010953)	mean corpuscular hemoglobin concentration (CMO:0000291)	2	210675783	210675784	Human
597316861	GWAS1412935_H	X-17367 measurement QTL GWAS1412935 (human)		4e-97	X-17367 measurement		2	210675783	210675784	Human
598021314	GWAS1740613_H	glomerular filtration rate QTL GWAS1740613 (human)		3e-42	glomerular filtration rate		2	210675783	210675784	Human
628861468	GWAS2769697_H	alcohol consumption quality QTL GWAS2769697 (human)		1e-12	alcohol consumption quality		2	210483082	210483083	Human
598090954	GWAS1810253_H	glomerular filtration rate QTL GWAS1810253 (human)		2e-21	glomerular filtration rate		2	210538393	210538394	Human
407113514	GWAS762490_H	glycine measurement QTL GWAS762490 (human)		4e-15	glycine measurement		2	210617549	210617550	Human
407398182	GWAS1047158_H	glomerular filtration rate QTL GWAS1047158 (human)		6e-30	glomerular filtration rate		2	210675783	210675784	Human
407252788	GWAS901764_H	X-24757 measurement QTL GWAS901764 (human)		6e-11	1-ribosyl-imidazoleacetate measurement		2	210675783	210675784	Human
407015217	GWAS664193_H	serum metabolite measurement QTL GWAS664193 (human)		2e-20	neutrophil count		2	210675783	210675784	Human
407033649	GWAS682625_H	mean corpuscular hemoglobin QTL GWAS682625 (human)		5e-08	cholesteryl esters:total lipids ratio, intermediate density lipoprotein measurement		2	210675783	210675784	Human
597163236	GWAS1259310_H	venous thromboembolism, fibrinogen measurement QTL GWAS1259310 (human)		3e-19	venous thromboembolism, fibrinogen measurement		2	210678331	210678332	Human
407279410	GWAS928386_H	mean corpuscular volume QTL GWAS928386 (human)		1e-28	serine measurement		2	210675783	210675784	Human
597185772	GWAS1281846_H	serum homoarginine measurement QTL GWAS1281846 (human)		2e-67	serum homoarginine measurement		2	210675783	210675784	Human
597994706	GWAS1714005_H	alcohol consumption quality, high density lipoprotein cholesterol measurement QTL GWAS1714005 (human)		5e-16	blood HDL cholesterol amount (VT:0000184)	blood high density lipoprotein cholesterol level (CMO:0000052)	2	210675783	210675784	Human
617141182	GWAS2158681_H	protein turtle homolog A measurement QTL GWAS2158681 (human)		8e-24	protein turtle homolog A measurement		2	210675783	210675784	Human
407392063	GWAS1041039_H	high density lipoprotein cholesterol measurement QTL GWAS1041039 (human)		8e-25	high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
628500993	GWAS2409222_H	appendicular lean mass QTL GWAS2409222 (human)		2e-09	arterial blood pressure trait (VT:2000000)	systolic blood pressure (CMO:0000004)	2	210675783	210675784	Human
628849154	GWAS2757383_H	propionylglycine measurement QTL GWAS2757383 (human)		2e-273	propionylglycine measurement		2	210675783	210675784	Human
407080766	GWAS729742_H	body mass index QTL GWAS729742 (human)		1e-16	fibrinogen measurement, tissue plasminogen activator measurement		2	210678331	210678332	Human
407238456	GWAS887432_H	body fat percentage QTL GWAS887432 (human)		2e-08	body fat percentage		2	210678331	210678332	Human
407351097	GWAS1000073_H	sex hormone-binding globulin measurement QTL GWAS1000073 (human)		6e-15	sex hormone-binding globulin measurement		2	210675783	210675784	Human
597816542	GWAS1683933_H	free androgen index QTL GWAS1683933 (human)		3e-09	apolipoprotein A 1 measurement		2	210675783	210675784	Human
628785669	GWAS2693898_H	erythrocyte volume QTL GWAS2693898 (human)		1e-20	erythrocyte volume		2	210675783	210675784	Human
407218119	GWAS867095_H	glycine measurement QTL GWAS867095 (human)		1e-324	glycine measurement		2	210675783	210675784	Human
628818681	GWAS2726910_H	eosinophil percentage of leukocytes QTL GWAS2726910 (human)		7e-30	eosinophil quantity (VT:0002602)	blood eosinophil count to total leukocyte count ratio (CMO:0000369)	2	210678331	210678332	Human
628935419	GWAS2843648_H	platelet count QTL GWAS2843648 (human)		1e-68	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	2	210675783	210675784	Human
407328719	GWAS977695_H	sex hormone-binding globulin measurement QTL GWAS977695 (human)		1e-29	sex hormone-binding globulin measurement		2	210675783	210675784	Human
616510263	GWAS1906846_H	serum alanine aminotransferase amount QTL GWAS1906846 (human)		6e-19	serum alanine aminotransferase amount		2	210678331	210678332	Human
628587262	GWAS2495491_H	diet measurement, serum creatinine amount QTL GWAS2495491 (human)		0.000006	eating behavior trait (VT:0001431)	food intake measurement (CMO:0000772)	2	210678331	210678332	Human
597087259	GWAS1183333_H	mean platelet volume QTL GWAS1183333 (human)		4e-46	blood protein measurement		2	210675783	210675784	Human
597994539	GWAS1713838_H	body height QTL GWAS1713838 (human)		3e-09	apolipoprotein A 1 measurement		2	210675783	210675784	Human
598037546	GWAS1756845_H	factor XI measurement, circulating fibrinogen levels, tissue plasminogen activator amount, factor VII measurement QTL GWAS1756845 (human)		2e-17	X-16570 measurement		2	210678331	210678332	Human
597599245	GWAS1656105_H	serum alanine aminotransferase measurement QTL GWAS1656105 (human)		1e-16	blood protein measurement		2	210675783	210675784	Human
628527845	GWAS2436074_H	erythrocyte volume QTL GWAS2436074 (human)		7e-29	erythrocyte volume		2	210675783	210675784	Human
628423393	GWAS2331622_H	eosinophil count QTL GWAS2331622 (human)		3e-16	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	2	210678331	210678332	Human
628601583	GWAS2509812_H	serum creatinine amount QTL GWAS2509812 (human)		1e-30	sex hormone-binding globulin measurement		2	210675783	210675784	Human
597314560	GWAS1410634_H	metabolite measurement QTL GWAS1410634 (human)		7e-73	metabolite measurement		2	210675783	210675784	Human
628706019	GWAS2614248_H	tigloylglycine measurement QTL GWAS2614248 (human)		7e-15	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
628706021	GWAS2614250_H	metabolite measurement QTL GWAS2614250 (human)		2e-24	metabolite measurement		2	210678331	210678332	Human
407246822	GWAS895798_H	glycine measurement QTL GWAS895798 (human)		2e-15	fibrinogen measurement, coronary artery disease		2	210678331	210678332	Human
596950068	GWAS1069587_H	Red cell distribution width QTL GWAS1069587 (human)		3e-10	alanine measurement		2	210675783	210675784	Human
617204584	GWAS2185024_H	level of podocalyxin-like protein 2 in blood QTL GWAS2185024 (human)		6e-19	level of podocalyxin-like protein 2 in blood		2	210675783	210675784	Human
617200491	GWAS2180931_H	hepatocyte growth factor activator amount QTL GWAS2180931 (human)		7e-42	hepatocyte growth factor activator amount		2	210675783	210675784	Human
597040177	GWAS1136251_H	urinary metabolite measurement QTL GWAS1136251 (human)		3e-13	creatinine measurement		2	210675783	210675784	Human
617128801	GWAS2146300_H	platelet volume QTL GWAS2146300 (human)		5e-64	platelet volume		2	210675783	210675784	Human
597984270	GWAS1703569_H	platelet volume QTL GWAS1703569 (human)		5e-44	platelet volume	blood uric acid level (CMO:0000501)	2	210675783	210675784	Human
628675282	GWAS2583511_H	isovalerylglycine measurement QTL GWAS2583511 (human)		2e-39	isovalerylglycine measurement		2	210675783	210675784	Human
628759248	GWAS2667477_H	metabolite measurement QTL GWAS2667477 (human)		1e-44	metabolite measurement		2	210675783	210675784	Human
597306417	GWAS1402491_H	metabolite measurement QTL GWAS1402491 (human)		9e-36	metabolite measurement		2	210675783	210675784	Human
628677332	GWAS2585561_H	serum homoarginine amount QTL GWAS2585561 (human)		3e-60	serum homoarginine amount		2	210675783	210675784	Human
598062102	GWAS1781401_H	alcohol consumption quality QTL GWAS1781401 (human)		1e-12	alcohol consumption quality		2	210483082	210483083	Human
628499141	GWAS2407370_H	urate measurement QTL GWAS2407370 (human)		0.000001	urate measurement	blood uric acid level (CMO:0000501)	2	210675783	210675784	Human
407246834	GWAS895810_H	serum metabolite measurement QTL GWAS895810 (human)		4e-12	serum metabolite measurement		2	210678331	210678332	Human
407089142	GWAS738118_H	high density lipoprotein cholesterol measurement QTL GWAS738118 (human)		3e-20	monocyte chemotactic protein 3 measurement		2	210675783	210675784	Human
597115938	GWAS1212012_H	urinary potassium to creatinine ratio QTL GWAS1212012 (human)		1e-27	hexanoylglycine measurement		2	210675783	210675784	Human
628544195	GWAS2452424_H	platelet count QTL GWAS2452424 (human)		7e-47	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	2	210675783	210675784	Human
628677325	GWAS2585554_H	guanidinosuccinate measurement QTL GWAS2585554 (human)		5e-14	guanidinosuccinate measurement		2	210678331	210678332	Human
628456131	GWAS2364360_H	macular telangiectasia type 2 QTL GWAS2364360 (human)		4e-20	blood glycine amount (VT:0010965)	blood amino acid measurement (CMO:0003730)	2	210675783	210675784	Human
628677327	GWAS2585556_H	hexanoylglycine measurement QTL GWAS2585556 (human)		7e-44	hexanoylglycine measurement		2	210678331	210678332	Human
628675279	GWAS2583508_H	isobutyrylglycine measurement QTL GWAS2583508 (human)		2e-35	isobutyrylglycine measurement		2	210675783	210675784	Human
597595174	GWAS1652034_H	blood urea nitrogen measurement QTL GWAS1652034 (human)		1e-19	blood urea nitrogen measurement		2	210675783	210675784	Human
625820405	GWAS2241327_H	health trait QTL GWAS2241327 (human)		9e-09	health trait		2	210675783	210675784	Human
407248895	GWAS897871_H	cholelithiasis QTL GWAS897871 (human)		1e-12	cholelithiasis		2	210678331	210678332	Human
407066617	GWAS715593_H	glomerular filtration rate QTL GWAS715593 (human)		2e-29	plasma betaine measurement		2	210675783	210675784	Human
597992475	GWAS1711774_H	glomerular filtration rate QTL GWAS1711774 (human)		4e-64	glomerular filtration rate		2	210675783	210675784	Human
598076517	GWAS1795816_H	serum homoarginine amount QTL GWAS1795816 (human)		3e-60	serum homoarginine amount		2	210675783	210675784	Human
626463382	GWAS2277315_H	triglyceride measurement QTL GWAS2277315 (human)		5e-13	triglyceride measurement		2	210562250	210562251	Human
597232732	GWAS1328806_H	blood protein measurement QTL GWAS1328806 (human)		1e-22	blood protein measurement		2	210675783	210675784	Human
597326931	GWAS1423005_H	N-acetylglycine measurement QTL GWAS1423005 (human)		2e-120	N-acetylglycine measurement		2	210675783	210675784	Human
597113948	GWAS1210022_H	platelet count QTL GWAS1210022 (human)		7e-34	platelet quantity (VT:0003179)	platelet count (CMO:0000029)	2	210675783	210675784	Human
628759209	GWAS2667438_H	X-17367 measurement QTL GWAS2667438 (human)		1e-33	X-17367 measurement		2	210675783	210675784	Human
407142288	GWAS791264_H	serum metabolite measurement QTL GWAS791264 (human)		2e-40	serum metabolite measurement		2	210675783	210675784	Human
597435464	GWAS1531538_H	serine measurement, cerebrospinal fluid biomarker measurement QTL GWAS1531538 (human)		2e-17	serine measurement, cerebrospinal fluid biomarker measurement		2	210675783	210675784	Human
628679340	GWAS2587569_H	level of N-oxalylglycine in blood QTL GWAS2587569 (human)		5e-19	erythrocyte volume		2	210675783	210675784	Human
597347407	GWAS1443481_H	body fat percentage QTL GWAS1443481 (human)		2e-08	soluble transferrin receptor measurement		2	210678331	210678332	Human
628865710	GWAS2773939_H	gamma-glutamylglycine measurement QTL GWAS2773939 (human)		2e-345	gamma-glutamylglycine measurement		2	210675783	210675784	Human
407084949	GWAS733925_H	lean body mass QTL GWAS733925 (human)		4e-09	arterial blood pressure trait (VT:2000000)	diastolic blood pressure (CMO:0000005)	2	210675783	210675784	Human
407142290	GWAS791266_H	serum metabolite measurement QTL GWAS791266 (human)		8e-17	high density lipoprotein cholesterol measurement		2	210675783	210675784	Human
407197596	GWAS846572_H	ergothioneine measurement QTL GWAS846572 (human)		0.000008	ergothioneine measurement		2	210641762	210641763	Human
598013055	GWAS1732354_H	ACE2/GGT1 protein level ratio in blood QTL GWAS1732354 (human)		2e-28	ACE2/GGT1 protein level ratio in blood		2	210675783	210675784	Human
628865702	GWAS2773931_H	plasma betaine measurement QTL GWAS2773931 (human)		4e-29	plasma betaine measurement		2	210675783	210675784	Human
407142298	GWAS791274_H	serum metabolite measurement QTL GWAS791274 (human)		3e-27	serum metabolite measurement		2	210675783	210675784	Human
628679323	GWAS2587552_H	2-butenoylglycine measurement QTL GWAS2587552 (human)		8e-22	2-butenoylglycine measurement		2	210675783	210675784	Human
597601402	GWAS1658262_H	blood urea nitrogen measurement QTL GWAS1658262 (human)		3e-14	blood urea nitrogen measurement		2	210678331	210678332	Human
596950130	GWAS1069649_H	fibrinogen measurement QTL GWAS1069649 (human)		2e-13	neutrophil count		2	210678331	210678332	Human
628679326	GWAS2587555_H	3-hydroxybutyroylglycine measurement QTL GWAS2587555 (human)		2e-33	3-hydroxybutyroylglycine measurement		2	210675783	210675784	Human
407123886	GWAS772862_H	body mass index QTL GWAS772862 (human)		0.000009	body size trait (VT:0100005)	body mass index (BMI) (CMO:0000105)	2	210630863	210630864	Human
407250861	GWAS899837_H	metabolite measurement QTL GWAS899837 (human)		9e-15	eosinophil count		2	210675783	210675784	Human
598013007	GWAS1732306_H	AARSD1/EIF4EBP1 protein level ratio in blood QTL GWAS1732306 (human)		4e-17	AARSD1/EIF4EBP1 protein level ratio in blood		2	210675783	210675784	Human
597142650	GWAS1238724_H	educational attainment QTL GWAS1238724 (human)		7e-19	educational attainment		2	210602824	210602825	Human
407142314	GWAS791290_H	serum metabolite measurement QTL GWAS791290 (human)		5e-20	metabolite measurement		2	210675783	210675784	Human
597136487	GWAS1232561_H	gamma-glutamylglycine measurement QTL GWAS1232561 (human)		2e-345	gamma-glutamylglycine measurement		2	210675783	210675784	Human
628720265	GWAS2628494_H	glomerular filtration rate QTL GWAS2628494 (human)		6e-30	glomerular filtration rate		2	210675783	210675784	Human
597107813	GWAS1203887_H	sex hormone-binding globulin measurement QTL GWAS1203887 (human)		1e-21	blood bilirubin amount (VT:0001569)	serum total bilirubin level (CMO:0000376)	2	210675783	210675784	Human
596956256	GWAS1075775_H	pyroglutamine measurement QTL GWAS1075775 (human)		2e-16	pyroglutamine measurement		2	210678331	210678332	Human
407142323	GWAS791299_H	serum metabolite measurement QTL GWAS791299 (human)		1e-17	serum metabolite measurement		2	210675783	210675784	Human
628486793	GWAS2395022_H	glomerular filtration rate QTL GWAS2395022 (human)		2e-29	plasma betaine measurement		2	210675783	210675784	Human
407005119	GWAS654095_H	mean corpuscular hemoglobin concentration QTL GWAS654095 (human)		3e-12	X-12101 measurement		2	210675783	210675784	Human
597099625	GWAS1195699_H	sex hormone-binding globulin measurement QTL GWAS1195699 (human)		1e-29	sex hormone-binding globulin measurement		2	210675783	210675784	Human

Markers in Region

SHGC-33072

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	211,543,682 - 211,543,807	UniSTS	GRCh37
Build 36	2	211,251,927 - 211,252,052	RGD	NCBI36
Celera	2	205,311,565 - 205,311,690	RGD
Cytogenetic Map	2	q35	UniSTS
HuRef	2	203,389,948 - 203,390,073	UniSTS
GeneMap99-GB4 RH Map	2	649.0	UniSTS
Whitehead-RH Map	2	974.3	UniSTS
GeneMap99-G3 RH Map	2	9254.0	UniSTS

SHGC-12818

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	211,542,864 - 211,543,193	UniSTS	GRCh37
Build 36	2	211,251,109 - 211,251,438	RGD	NCBI36
Celera	2	205,310,747 - 205,311,076	RGD
Cytogenetic Map	2	q35	UniSTS
HuRef	2	203,389,130 - 203,389,459	UniSTS
Whitehead-YAC Contig Map	2		UniSTS
GeneMap99-G3 RH Map	2	9254.0	UniSTS

RH12253

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	211,431,126 - 211,431,316	UniSTS	GRCh37
Build 36	2	211,139,371 - 211,139,561	RGD	NCBI36
Celera	2	205,199,032 - 205,199,222	RGD
Cytogenetic Map	2	q35	UniSTS
HuRef	2	203,277,345 - 203,277,535	UniSTS
GeneMap99-GB4 RH Map	2	650.26	UniSTS

SHGC-79694

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	211,487,560 - 211,487,866	UniSTS	GRCh37
Build 36	2	211,195,805 - 211,196,111	RGD	NCBI36
Celera	2	205,255,442 - 205,255,748	RGD
Cytogenetic Map	2	q35	UniSTS
HuRef	2	203,333,746 - 203,334,052	UniSTS
TNG Radiation Hybrid Map	2	116176.0	UniSTS

RH120629

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	211,441,562 - 211,441,893	UniSTS	GRCh37
Build 36	2	211,149,807 - 211,150,138	RGD	NCBI36
Celera	2	205,209,449 - 205,209,780	RGD
Cytogenetic Map	2	q35	UniSTS
HuRef	2	203,287,764 - 203,288,095	UniSTS
TNG Radiation Hybrid Map	2	116138.0	UniSTS

RH123929

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	211,412,984 - 211,413,290	UniSTS	GRCh37
Build 36	2	211,121,229 - 211,121,535	RGD	NCBI36
Celera	2	205,180,891 - 205,181,197	RGD
Cytogenetic Map	2	q35	UniSTS
HuRef	2	203,259,078 - 203,259,384	UniSTS
TNG Radiation Hybrid Map	2	116143.0	UniSTS

SHGC-146134

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	211,476,657 - 211,476,948	UniSTS	GRCh37
Build 36	2	211,184,902 - 211,185,193	RGD	NCBI36
Celera	2	205,244,540 - 205,244,831	RGD
Cytogenetic Map	2	q35	UniSTS
HuRef	2	203,322,859 - 203,323,149	UniSTS
TNG Radiation Hybrid Map	2	116158.0	UniSTS

RH68320

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	211,542,958 - 211,543,111	UniSTS	GRCh37
Build 36	2	211,251,203 - 211,251,356	RGD	NCBI36
Celera	2	205,310,841 - 205,310,994	RGD
Cytogenetic Map	2	q35	UniSTS
HuRef	2	203,389,224 - 203,389,377	UniSTS
GeneMap99-GB4 RH Map	2	646.76	UniSTS

SHGC-172945

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	211,387,182 - 211,387,481	UniSTS	GRCh37
Build 36	2	211,095,427 - 211,095,726	RGD	NCBI36
Celera	2	205,155,084 - 205,155,383	RGD
Cytogenetic Map	2	q35	UniSTS
HuRef	2	203,233,271 - 203,233,570	UniSTS
TNG Radiation Hybrid Map	2	116126.0	UniSTS

A009X04

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	211,523,507 - 211,523,640	UniSTS	GRCh37
Build 36	2	211,231,752 - 211,231,885	RGD	NCBI36
Celera	2	205,291,387 - 205,291,520	RGD
Cytogenetic Map	2	q35	UniSTS
HuRef	2	203,369,771 - 203,369,904	UniSTS
GeneMap99-GB4 RH Map	2	646.76	UniSTS

RH78779

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	211,484,505 - 211,484,682	UniSTS	GRCh37
Build 36	2	211,192,750 - 211,192,927	RGD	NCBI36
Celera	2	205,252,388 - 205,252,565	RGD
Cytogenetic Map	2	q35	UniSTS
Cytogenetic Map	2	q34	UniSTS
HuRef	2	203,330,711 - 203,330,888	UniSTS

D2S2818

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	211,542,614 - 211,542,713	UniSTS	GRCh37
Build 36	2	211,250,859 - 211,250,958	RGD	NCBI36
Celera	2	205,310,497 - 205,310,596	RGD
Cytogenetic Map	2	q35	UniSTS
HuRef	2	203,388,880 - 203,388,979	UniSTS

D15S1477

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	4	q32-q35	UniSTS
Cytogenetic Map	5	q11	UniSTS
Cytogenetic Map	10	p12.1	UniSTS
Cytogenetic Map	10	p12.1-p11.2	UniSTS
Cytogenetic Map	15	q13	UniSTS
Cytogenetic Map	21	q21.3	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
Cytogenetic Map	1	q25	UniSTS
Cytogenetic Map	20	q13.3	UniSTS
Cytogenetic Map	14	q11.2	UniSTS
Cytogenetic Map	11	p15.4	UniSTS
Cytogenetic Map	12	q12	UniSTS
Cytogenetic Map	3	p24.3	UniSTS
Cytogenetic Map	5	q14	UniSTS
Cytogenetic Map	3	q29	UniSTS
Cytogenetic Map	1	p36.13	UniSTS
Cytogenetic Map	7	q36.3	UniSTS
Cytogenetic Map	7	p21.3	UniSTS
Cytogenetic Map	1	q22	UniSTS
Cytogenetic Map	14	q32.33	UniSTS
Cytogenetic Map	14	q23.3	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	14	q31-q32	UniSTS
Cytogenetic Map	10	q25.2	UniSTS
Cytogenetic Map	16	p13.13-p13.12	UniSTS
Cytogenetic Map	3	q12.3	UniSTS
Cytogenetic Map	14	q24.3	UniSTS
Cytogenetic Map	10	p15.3	UniSTS
Cytogenetic Map	2	p22.1	UniSTS
Cytogenetic Map	13	q13.1	UniSTS
Cytogenetic Map	5	q23.3	UniSTS
Cytogenetic Map	15	q21.1	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	3	p21.3	UniSTS
Cytogenetic Map	12	q24.13	UniSTS
Cytogenetic Map	4	q21.1	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	2	q37.3	UniSTS
Cytogenetic Map	2	p15	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	4	p16.3	UniSTS
Cytogenetic Map	1	p35.1	UniSTS
Cytogenetic Map	17	q11.2	UniSTS
Cytogenetic Map	1	p31.3	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
Cytogenetic Map	10	q22	UniSTS
Cytogenetic Map	1	q41	UniSTS
Cytogenetic Map	9	q34.3	UniSTS
Cytogenetic Map	9	p13.3	UniSTS
Cytogenetic Map	12	q24.31	UniSTS
Cytogenetic Map	2	p13.1	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	10	q24.2	UniSTS
Cytogenetic Map	1	q42.11	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	2	p13.3	UniSTS
Cytogenetic Map	7	p22.1	UniSTS
Cytogenetic Map	11	q24	UniSTS
Cytogenetic Map	6	q16.2	UniSTS
Cytogenetic Map	2	q14	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
Cytogenetic Map	16	q24	UniSTS
Cytogenetic Map	X	q26.3	UniSTS
Cytogenetic Map	10	q23.1	UniSTS
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	4	q12	UniSTS
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	2	p11.2	UniSTS
Cytogenetic Map	7	q21.2	UniSTS
Cytogenetic Map	17	q22.2	UniSTS
Cytogenetic Map	8	q22.3	UniSTS
Cytogenetic Map	4	q25	UniSTS
Cytogenetic Map	11	q14.2	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	5	q23	UniSTS
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	13	q12.1	UniSTS
Cytogenetic Map	6	p21.32	UniSTS
Cytogenetic Map	2	q31	UniSTS
Cytogenetic Map	10	p14	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
Cytogenetic Map	3	p21.2	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	14	q12	UniSTS
Cytogenetic Map	8	p11.22	UniSTS
Cytogenetic Map	19	q13.32	UniSTS
Cytogenetic Map	17	q21.31	UniSTS
Cytogenetic Map	4	q28.2	UniSTS
Cytogenetic Map	1	p13.2	UniSTS
Cytogenetic Map	22	q12.3	UniSTS
Cytogenetic Map	19	p13.11	UniSTS
Cytogenetic Map	16	p12.3	UniSTS
Cytogenetic Map	15	q22.31	UniSTS
Cytogenetic Map	2	q31.1	UniSTS
Cytogenetic Map	2	q33.2	UniSTS
Cytogenetic Map	1	p34.3	UniSTS
Cytogenetic Map	1	p36.31	UniSTS
Cytogenetic Map	3	q21.3	UniSTS
Cytogenetic Map	17	q25	UniSTS
Cytogenetic Map	11	p13	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	1	p35.3	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	4	p14	UniSTS
Cytogenetic Map	15	q11-q13	UniSTS
Cytogenetic Map	19	p	UniSTS
Cytogenetic Map	7	q22	UniSTS
Cytogenetic Map	9	q22.3	UniSTS
Cytogenetic Map	3	p25.3	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	8	q11.21	UniSTS
Cytogenetic Map	15	q15	UniSTS
Cytogenetic Map	15	q15.1	UniSTS
Cytogenetic Map	2	q22.3	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	5	q13.2	UniSTS
Cytogenetic Map	10	q23.2	UniSTS
Cytogenetic Map	7	p22.3	UniSTS
Cytogenetic Map	9	q34.13	UniSTS
Cytogenetic Map	1	q32	UniSTS
Cytogenetic Map	1	q31.3	UniSTS
Cytogenetic Map	4	q35	UniSTS
Cytogenetic Map	9	p13	UniSTS
Cytogenetic Map	3	p24.2	UniSTS
Cytogenetic Map	3	q23	UniSTS
Cytogenetic Map	6	q25.2-q25.3	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	1	q42.3	UniSTS
Cytogenetic Map	7	q22.3	UniSTS
Cytogenetic Map	9	q34.2	UniSTS
Cytogenetic Map	17	q24	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	19	q13.3-q13.4	UniSTS
Cytogenetic Map	22	q11.23	UniSTS
Cytogenetic Map	3	q21	UniSTS
Cytogenetic Map	20	q13	UniSTS
Cytogenetic Map	22	q12.2	UniSTS
Cytogenetic Map	19	p13.12	UniSTS
Cytogenetic Map	14	q22.1	UniSTS
Cytogenetic Map	11	q23.1	UniSTS
Cytogenetic Map	17	q22-q23	UniSTS
Cytogenetic Map	X	p22.33	UniSTS
Cytogenetic Map	Y	p11.3	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	7	p15.2	UniSTS
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	12	q23.1	UniSTS
Cytogenetic Map	16	q12.2	UniSTS
Cytogenetic Map	13	q11	UniSTS
Cytogenetic Map	X	p22.3	UniSTS
Cytogenetic Map	3	p25-p24	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	2	p21	UniSTS
Cytogenetic Map	X	q22.1	UniSTS
Cytogenetic Map	X	p11.3	UniSTS
Cytogenetic Map	3	p12	UniSTS
Cytogenetic Map	1	q25.1	UniSTS
Cytogenetic Map	17	p11.2	UniSTS
Cytogenetic Map	X	p11.2	UniSTS
Cytogenetic Map	11	q13.1-q13.2	UniSTS
Cytogenetic Map	8	q24.3	UniSTS
Cytogenetic Map	17	p13	UniSTS
Cytogenetic Map	5	p13.2	UniSTS
Cytogenetic Map	7	q21-q22	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	3	q26.2	UniSTS
Cytogenetic Map	20	q11.22	UniSTS
Cytogenetic Map	8	p22	UniSTS
Cytogenetic Map	4	q35.1	UniSTS
Cytogenetic Map	10	q23.31	UniSTS
Cytogenetic Map	6	p21.1-p12.2	UniSTS
Cytogenetic Map	12	q14.1	UniSTS
Cytogenetic Map	7	p11.2	UniSTS
Cytogenetic Map	11	p15.5	UniSTS
Cytogenetic Map	1	p35	UniSTS
Cytogenetic Map	12	q	UniSTS
Cytogenetic Map	1	q21.2	UniSTS
Cytogenetic Map	8	q23.1	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
Cytogenetic Map	14	q11.1	UniSTS
Cytogenetic Map	21	q22.11	UniSTS
Cytogenetic Map	3	p14.1	UniSTS
Cytogenetic Map	5	q31	UniSTS
Cytogenetic Map	19	p13.3-p13.2	UniSTS
Cytogenetic Map	1	p36.11-p34.2	UniSTS
Cytogenetic Map	9	p22	UniSTS
Cytogenetic Map	1	q42.12	UniSTS
Cytogenetic Map	2	q35	UniSTS
Cytogenetic Map	9	p22.1	UniSTS
Cytogenetic Map	11	q24.2	UniSTS
Cytogenetic Map	12	q15	UniSTS
Cytogenetic Map	17	p13.2	UniSTS
Cytogenetic Map	8	q22.1	UniSTS
Cytogenetic Map	9	q21.13	UniSTS
Cytogenetic Map	11	p15.1	UniSTS
Cytogenetic Map	1	p32.3	UniSTS
Cytogenetic Map	12	q21.1	UniSTS
Cytogenetic Map	20	q13.33	UniSTS
Cytogenetic Map	3	p21	UniSTS
Cytogenetic Map	20	p11.23	UniSTS
Cytogenetic Map	15	q15.2	UniSTS
Cytogenetic Map	8	p21.1	UniSTS
Cytogenetic Map	1	p36.33	UniSTS
Cytogenetic Map	18	q12.1	UniSTS
Cytogenetic Map	8	q12.1	UniSTS
Cytogenetic Map	14	q21.2	UniSTS
Cytogenetic Map	3	q27.1	UniSTS
Cytogenetic Map	3	p14.3	UniSTS
Cytogenetic Map	17	p13.1	UniSTS
Cytogenetic Map	6	p22.1	UniSTS
Cytogenetic Map	12	p13.2	UniSTS
Cytogenetic Map	12	q13.13	UniSTS
Cytogenetic Map	15	q21.3	UniSTS
Cytogenetic Map	X	p11.22	UniSTS
Cytogenetic Map	12	p12	UniSTS
Cytogenetic Map	15	q15.3	UniSTS
Cytogenetic Map	18	q12.3	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
Cytogenetic Map	12	q11-q12	UniSTS
Cytogenetic Map	3	q13.33	UniSTS
Cytogenetic Map	11	q13.4	UniSTS
Cytogenetic Map	2	p24	UniSTS
Cytogenetic Map	8	q24.21	UniSTS
Cytogenetic Map	12	q22-q23.1	UniSTS
Cytogenetic Map	3	q26.33	UniSTS
Cytogenetic Map	5	q32	UniSTS
Cytogenetic Map	15	q21-q22	UniSTS
Cytogenetic Map	8	p21.2	UniSTS
Cytogenetic Map	10	q23	UniSTS
Cytogenetic Map	1	p22	UniSTS
Cytogenetic Map	16	p13.13	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	10	q24	UniSTS
Cytogenetic Map	8	q11.2	UniSTS
Cytogenetic Map	7	p14-p13	UniSTS
Cytogenetic Map	11	q22-q23	UniSTS
Cytogenetic Map	6	q22-q23	UniSTS
Cytogenetic Map	2	p16.1	UniSTS
Cytogenetic Map	15	q26.3	UniSTS
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	4	q21.22	UniSTS
Cytogenetic Map	1	q21.1	UniSTS
Cytogenetic Map	17	q21.33	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	16	p12.1	UniSTS
Cytogenetic Map	14	q32.31	UniSTS
Cytogenetic Map	11	q24.3	UniSTS
Cytogenetic Map	11	q13.1-q13.3	UniSTS
Cytogenetic Map	14	q24.2	UniSTS
Cytogenetic Map	17	q23.3	UniSTS
Cytogenetic Map	2	q24	UniSTS
Cytogenetic Map	1	q23.3	UniSTS
Cytogenetic Map	10	q25	UniSTS
Cytogenetic Map	9	q32	UniSTS
Cytogenetic Map	3	q25.33	UniSTS
Cytogenetic Map	2	p14	UniSTS
Cytogenetic Map	15	q21-q23	UniSTS
Cytogenetic Map	7	q11.23	UniSTS
Cytogenetic Map	3	p22.1	UniSTS
Cytogenetic Map	19	q13.11	UniSTS
Cytogenetic Map	15	q25.2	UniSTS
Cytogenetic Map	10	q26.3	UniSTS
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	2	p25.2	UniSTS
Cytogenetic Map	14	q23.1	UniSTS
Cytogenetic Map	1	p31.1	UniSTS
Cytogenetic Map	15	q14-q15	UniSTS
Cytogenetic Map	5	q31.1	UniSTS
Cytogenetic Map	1	p34	UniSTS
Cytogenetic Map	X	q22.3	UniSTS
Cytogenetic Map	7	p15.3	UniSTS
Cytogenetic Map	6	p25.2	UniSTS
Cytogenetic Map	6	q25.1	UniSTS
Cytogenetic Map	12	p12.1	UniSTS
Cytogenetic Map	X	q25	UniSTS
Cytogenetic Map	14	q23.2	UniSTS
Cytogenetic Map	11	q12	UniSTS
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	5	q35	UniSTS
Cytogenetic Map	16	q21	UniSTS
Cytogenetic Map	6	p23	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	4	p16.1	UniSTS
Cytogenetic Map	3	q25.31	UniSTS
Cytogenetic Map	2	q33.1	UniSTS
Cytogenetic Map	17	q21.2	UniSTS
Cytogenetic Map	19	q13.41	UniSTS
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	10	q24.31	UniSTS
Cytogenetic Map	20	q13.13	UniSTS
Cytogenetic Map	1	p22.1	UniSTS
Cytogenetic Map	10	q22.2	UniSTS
Cytogenetic Map	6	q13	UniSTS
Cytogenetic Map	10	q21.3	UniSTS
Cytogenetic Map	17	p12	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	4	q31.1	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	18	q21.3	UniSTS
Cytogenetic Map	11	q21	UniSTS
Cytogenetic Map	5	q13	UniSTS
Cytogenetic Map	11	q23.2	UniSTS
Cytogenetic Map	8	q12	UniSTS
Cytogenetic Map	4	q28-q32	UniSTS
Cytogenetic Map	19	q13.33	UniSTS
Cytogenetic Map	15	q21.2	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	9	q34	UniSTS
Cytogenetic Map	5	q12.3	UniSTS
Cytogenetic Map	12	q24.11	UniSTS
Cytogenetic Map	9	q21.12	UniSTS
Cytogenetic Map	9	q33.3	UniSTS
Cytogenetic Map	11	q22.3	UniSTS
Cytogenetic Map	20	p11.22-p11.1	UniSTS
Cytogenetic Map	10	q24.32	UniSTS
Cytogenetic Map	20	p13	UniSTS
Cytogenetic Map	16	q23.1	UniSTS
Cytogenetic Map	13	q14.2	UniSTS
Cytogenetic Map	2	q24.3	UniSTS
Cytogenetic Map	8	p12	UniSTS
Cytogenetic Map	7	p13	UniSTS
Cytogenetic Map	9	q31-q33	UniSTS
Cytogenetic Map	6	p24.1	UniSTS
Cytogenetic Map	10	p11.23	UniSTS
Cytogenetic Map	6	q15	UniSTS
Cytogenetic Map	5	q35.2	UniSTS
Cytogenetic Map	14	q32	UniSTS
Cytogenetic Map	3	q26.1-q26.2	UniSTS
Cytogenetic Map	5	q11.2-q13.2	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	1	q25.2	UniSTS
Cytogenetic Map	X	p11.4	UniSTS
Cytogenetic Map	X	q13.3	UniSTS
Cytogenetic Map	8	q22.2	UniSTS
Cytogenetic Map	7	q11.21	UniSTS
Cytogenetic Map	5	q35.1	UniSTS
Cytogenetic Map	5	q33.1	UniSTS
Cytogenetic Map	4	q21.21	UniSTS
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	22	q11.21	UniSTS
Cytogenetic Map	18	p11.21	UniSTS
Cytogenetic Map	X	q13.1	UniSTS
Cytogenetic Map	X	q21.1	UniSTS
Cytogenetic Map	10	p11.21	UniSTS
Cytogenetic Map	12	q14.3	UniSTS
Cytogenetic Map	5	q34	UniSTS
Cytogenetic Map	2	q36.1	UniSTS
Cytogenetic Map	12	p11.21	UniSTS
Cytogenetic Map	5	q33.3	UniSTS
Cytogenetic Map	16	q23.2	UniSTS
Cytogenetic Map	9	q31.3	UniSTS
Cytogenetic Map	15	q24	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	12	q21	UniSTS
Cytogenetic Map	8	p11.2	UniSTS
Cytogenetic Map	7	q22-q31	UniSTS
Cytogenetic Map	22	q12	UniSTS
Cytogenetic Map	4	q22	UniSTS
Cytogenetic Map	17	q21.32	UniSTS
Cytogenetic Map	12	q14	UniSTS
Cytogenetic Map	11	q23.1-q23.2	UniSTS
Cytogenetic Map	13	q14	UniSTS
Cytogenetic Map	13	q32.2	UniSTS
Cytogenetic Map	17	q	UniSTS
Cytogenetic Map	2	q33	UniSTS
Cytogenetic Map	7	q	UniSTS
Cytogenetic Map	16	p12.2	UniSTS
Cytogenetic Map	10	q11.23	UniSTS
Cytogenetic Map	20	q13.12	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	13	q22.1	UniSTS
Cytogenetic Map	3	p25.2	UniSTS
Cytogenetic Map	5	q21.3	UniSTS
Cytogenetic Map	9	q22.2	UniSTS
Cytogenetic Map	3	p22.2	UniSTS
Cytogenetic Map	6	p24.2	UniSTS

D11S2560

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	10	p12.1-p11.2	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
Cytogenetic Map	20	q13.3	UniSTS
Cytogenetic Map	19	p13.12	UniSTS
Cytogenetic Map	8	q21.13	UniSTS
Cytogenetic Map	18	p11.22	UniSTS
Cytogenetic Map	9	p13.3-p12	UniSTS
Cytogenetic Map	10	p12.1	UniSTS
Cytogenetic Map	19	q13.11	UniSTS
Cytogenetic Map	22	q11.23	UniSTS
Cytogenetic Map	5	q23.3	UniSTS
Cytogenetic Map	15	q21.1	UniSTS
Cytogenetic Map	14	q24.2	UniSTS
Cytogenetic Map	15	q13	UniSTS
Cytogenetic Map	6	q25.3	UniSTS
Cytogenetic Map	8	p22-p21	UniSTS
Cytogenetic Map	1	p34.1	UniSTS
Cytogenetic Map	4	p16.3	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	15	q21.3	UniSTS
Cytogenetic Map	12	q24.31	UniSTS
Cytogenetic Map	2	p13.1	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	10	q24.2	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	6	q16.2	UniSTS
Cytogenetic Map	X	q26.3	UniSTS
Cytogenetic Map	9	q22.33	UniSTS
Cytogenetic Map	7	q21.2	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	8	q24.13	UniSTS
Cytogenetic Map	4	q25	UniSTS
Cytogenetic Map	12	p13.33	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	5	q23	UniSTS
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	3	p21.2	UniSTS
Cytogenetic Map	19	q13.32	UniSTS
Cytogenetic Map	1	p13.2	UniSTS
Cytogenetic Map	6	q27	UniSTS
Cytogenetic Map	2	p13.3	UniSTS
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	22	q11.21	UniSTS
Cytogenetic Map	17	q21.31	UniSTS
Cytogenetic Map	2	q12.1	UniSTS
Cytogenetic Map	9	q13-q21	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	2	p15	UniSTS
Cytogenetic Map	8	q11.21	UniSTS
Cytogenetic Map	15	q15	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	12	q23-q24.1	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	10	q23.2	UniSTS
Cytogenetic Map	3	q23	UniSTS
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	9	q34.2	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	2	q35	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	22	q12.2	UniSTS
Cytogenetic Map	1	p32	UniSTS
Cytogenetic Map	1	p35.1	UniSTS
Cytogenetic Map	7	p15.2	UniSTS
Cytogenetic Map	12	p13.2	UniSTS
Cytogenetic Map	16	q12.2	UniSTS
Cytogenetic Map	3	q26.2-q27	UniSTS
Cytogenetic Map	2	p21	UniSTS
Cytogenetic Map	8	p23.1	UniSTS
Cytogenetic Map	17	p11.2	UniSTS
Cytogenetic Map	X	p11.2	UniSTS
Cytogenetic Map	20	q11.2	UniSTS
Cytogenetic Map	3	q26.2	UniSTS
Cytogenetic Map	4	q22.1	UniSTS
Cytogenetic Map	4	p15.32	UniSTS
Cytogenetic Map	7	q36.3	UniSTS
Cytogenetic Map	2	q33.2	UniSTS
Cytogenetic Map	20	q13.13	UniSTS
Cytogenetic Map	10	p13	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
Cytogenetic Map	1	p36.11-p34.2	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
Cytogenetic Map	8	p21.3	UniSTS
Cytogenetic Map	18	p11.32	UniSTS
Cytogenetic Map	17	p13.2	UniSTS
Cytogenetic Map	8	q22.1	UniSTS
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	3	p21	UniSTS
Cytogenetic Map	14	q13.2	UniSTS
Cytogenetic Map	8	q12.1	UniSTS
Cytogenetic Map	3	p22.3	UniSTS
Cytogenetic Map	8	q24.3	UniSTS
Cytogenetic Map	13	q12.11	UniSTS
Cytogenetic Map	12	p12	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	14	q31.1	UniSTS
Cytogenetic Map	21	q22.2	UniSTS
Cytogenetic Map	2	p11.2	UniSTS
Cytogenetic Map	18	q12.3	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	2	p16.1	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	12	q13.13	UniSTS
Cytogenetic Map	8	q24.21	UniSTS
Cytogenetic Map	12	q22-q23.1	UniSTS
Cytogenetic Map	3	q26.33	UniSTS
Cytogenetic Map	1	q23	UniSTS
Cytogenetic Map	11	p15.1	UniSTS
Cytogenetic Map	7	q32	UniSTS
Cytogenetic Map	11	p13	UniSTS
Cytogenetic Map	5	p13.1	UniSTS
Cytogenetic Map	18	q21	UniSTS
Cytogenetic Map	7	p14-p13	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	11	q22-q23	UniSTS
Cytogenetic Map	19	p13.3-p13.2	UniSTS
Cytogenetic Map	6	q22-q23	UniSTS
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	1	q21.1	UniSTS
Cytogenetic Map	14	q32.31	UniSTS
Cytogenetic Map	11	q13.1-q13.3	UniSTS
Cytogenetic Map	1	q32	UniSTS
Cytogenetic Map	6	p24	UniSTS
Cytogenetic Map	10	q25	UniSTS
Cytogenetic Map	8	q22.3	UniSTS
Cytogenetic Map	2	p14	UniSTS
Cytogenetic Map	1	p36.31	UniSTS
Cytogenetic Map	6	q13	UniSTS
Cytogenetic Map	2	p25.2	UniSTS
Cytogenetic Map	1	p31.1	UniSTS
Cytogenetic Map	15	q14-q15	UniSTS
Cytogenetic Map	9	q31.1	UniSTS
Cytogenetic Map	21	q22.11	UniSTS
Cytogenetic Map	7	p15.3	UniSTS
Cytogenetic Map	5	q35.3	UniSTS
Cytogenetic Map	1	p36.32	UniSTS
Cytogenetic Map	15	q11.2	UniSTS
Cytogenetic Map	12	p12.1	UniSTS
Cytogenetic Map	X	q25	UniSTS
Cytogenetic Map	X	q28	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	8	p21.1	UniSTS
Cytogenetic Map	3	p26.1-p25.1	UniSTS
Cytogenetic Map	6	q16.3	UniSTS
Cytogenetic Map	3	q21.3	UniSTS
Cytogenetic Map	X	q27.1	UniSTS
Cytogenetic Map	3	q12.3	UniSTS
Cytogenetic Map	3	q25.31	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	11	q13.4	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
Cytogenetic Map	1	q42.3	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	12	q13.12	UniSTS
Cytogenetic Map	2	q33.1	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	4	q31.1	UniSTS
Cytogenetic Map	14	q32.33	UniSTS
Cytogenetic Map	9	q33.2	UniSTS
Cytogenetic Map	5	q13	UniSTS
Cytogenetic Map	8	q12	UniSTS
Cytogenetic Map	15	q22.31	UniSTS
Cytogenetic Map	17	q24.3	UniSTS
Cytogenetic Map	5	q12.3	UniSTS
Cytogenetic Map	1	p32.3	UniSTS
Cytogenetic Map	6	q21	UniSTS
Cytogenetic Map	10	q24.32	UniSTS
Cytogenetic Map	19	q13	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	14	q32.32	UniSTS
Cytogenetic Map	16	p13.2	UniSTS
Cytogenetic Map	1	p36.33	UniSTS
Cytogenetic Map	10	q11.22	UniSTS
Cytogenetic Map	1	p34	UniSTS
Cytogenetic Map	6	q14.1	UniSTS
Cytogenetic Map	14	q32	UniSTS
Cytogenetic Map	1	p36.3-p36.2	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	1	p32-p31	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	5	q33.1	UniSTS
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	19	q13.41	UniSTS
Cytogenetic Map	18	p11.21	UniSTS
Cytogenetic Map	10	q26.11	UniSTS
Cytogenetic Map	12	q14.3	UniSTS
Cytogenetic Map	5	q34	UniSTS
Cytogenetic Map	2	q36.1	UniSTS
Cytogenetic Map	15	q25.2	UniSTS
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	4	p16.1	UniSTS
Cytogenetic Map	9	q32	UniSTS
Cytogenetic Map	15	q24	UniSTS
Cytogenetic Map	1	p34.3	UniSTS
Cytogenetic Map	12	q21	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	1	p35-p34	UniSTS
Cytogenetic Map	9	q34.1	UniSTS
Cytogenetic Map	9	q22.2	UniSTS
Cytogenetic Map	X	p22	UniSTS
Cytogenetic Map	13	q14	UniSTS
Cytogenetic Map	2	q33	UniSTS
Cytogenetic Map	16	p12.2	UniSTS
Cytogenetic Map	10	q11.23	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
Cytogenetic Map	3	p25.2	UniSTS
Cytogenetic Map	5	q11	UniSTS

D11S2687

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	2	q14.2	UniSTS
Cytogenetic Map	20	q13.33	UniSTS
Cytogenetic Map	1	q32.3	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	2	q35	UniSTS
Cytogenetic Map	16	q23.2	UniSTS

RH36905

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	5	q31.2	UniSTS
Cytogenetic Map	20	p13	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	1	q32.3	UniSTS
Cytogenetic Map	12	q24.11	UniSTS
Cytogenetic Map	1	p21.2	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	11	q23.1	UniSTS
Cytogenetic Map	5	q33.3	UniSTS
Cytogenetic Map	1	p36.13	UniSTS
Cytogenetic Map	19	p13.11	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	2	p13.3	UniSTS
Cytogenetic Map	8	q24.13	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	9	p24.3	UniSTS
Cytogenetic Map	10	p14	UniSTS
Cytogenetic Map	19	q13.32	UniSTS
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	17	q25	UniSTS
Cytogenetic Map	17	q21.31	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	7	q36.1	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	1	p12	UniSTS
Cytogenetic Map	10	p12.33	UniSTS
Cytogenetic Map	12	q13.12	UniSTS
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	10	p13	UniSTS
Cytogenetic Map	18	p11.3-p11.2	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	14	q24.1	UniSTS
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	10	q24.32	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
Cytogenetic Map	11	q13.5	UniSTS
Cytogenetic Map	2	p11.2	UniSTS
Cytogenetic Map	3	q27-q28	UniSTS
Cytogenetic Map	5	q31	UniSTS
Cytogenetic Map	3	q26.3	UniSTS
Cytogenetic Map	17	q11.2	UniSTS
Cytogenetic Map	3	p21.1	UniSTS
Cytogenetic Map	14	q32.31	UniSTS
Cytogenetic Map	X	p22.33	UniSTS
Cytogenetic Map	Y	p11.32	UniSTS
Cytogenetic Map	5	p13.2	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	17	q21.33	UniSTS
Cytogenetic Map	14	q13.2	UniSTS
Cytogenetic Map	1	p36.33	UniSTS
Cytogenetic Map	2	p21	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	12	p12	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	5	q13	UniSTS
Cytogenetic Map	8	p21.2	UniSTS
Cytogenetic Map	20	p11.23	UniSTS
Cytogenetic Map	6	p24.3	UniSTS
Cytogenetic Map	3	q12.2-q12.3	UniSTS
Cytogenetic Map	11	p15.4	UniSTS
Cytogenetic Map	1	q21.2-q21.3	UniSTS
Cytogenetic Map	18	q21	UniSTS
Cytogenetic Map	12	q24.2-q24.31	UniSTS
Cytogenetic Map	7	p11.2	UniSTS
Cytogenetic Map	15	q25.2	UniSTS
Cytogenetic Map	17	q23.3	UniSTS
Cytogenetic Map	16	q22	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	11	q12-q13.1	UniSTS
Cytogenetic Map	11	p11.2	UniSTS
Cytogenetic Map	9	q21.33	UniSTS
Cytogenetic Map	19	q13.41	UniSTS
Cytogenetic Map	11	p15.1	UniSTS
Cytogenetic Map	5	q12.3	UniSTS
Cytogenetic Map	18	p11.2	UniSTS
Cytogenetic Map	19	q13.3-q13.4	UniSTS
Cytogenetic Map	9	q31.1	UniSTS
Cytogenetic Map	5	q14.1	UniSTS
Cytogenetic Map	8	p21.1	UniSTS
Cytogenetic Map	1	q25.3	UniSTS
Cytogenetic Map	6	p24-p22.3	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	2	p13	UniSTS
Cytogenetic Map	7	q31.1-q31.2	UniSTS
Cytogenetic Map	8	q22.2	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	16	q21	UniSTS
Cytogenetic Map	10	q21	UniSTS
Cytogenetic Map	8	q24.3	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	1	p34.3	UniSTS
Cytogenetic Map	19	p13.13	UniSTS
Cytogenetic Map	10	q26.13	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	4	q25-q27	UniSTS
Cytogenetic Map	9	q34	UniSTS
Cytogenetic Map	1	q44	UniSTS
Cytogenetic Map	15	q15.3	UniSTS
Cytogenetic Map	4	q28-q32	UniSTS
Cytogenetic Map	12	q13.13	UniSTS
Cytogenetic Map	10	q24.1	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	19	q13.33	UniSTS
Cytogenetic Map	14	q22.3	UniSTS
Cytogenetic Map	2	p14	UniSTS
Cytogenetic Map	11	q14.1	UniSTS
Cytogenetic Map	17	p11.2	UniSTS
Cytogenetic Map	19	q12	UniSTS
Cytogenetic Map	1	p13.2	UniSTS
Cytogenetic Map	15	q14	UniSTS
Cytogenetic Map	12	p11.21	UniSTS
Cytogenetic Map	7	q11.21	UniSTS
Cytogenetic Map	5	q13.2	UniSTS
Cytogenetic Map	4	p14	UniSTS
Cytogenetic Map	18	q23	UniSTS
Cytogenetic Map	4	p16.3	UniSTS
Cytogenetic Map	2	q33.1	UniSTS
Cytogenetic Map	17	p13	UniSTS
Cytogenetic Map	1	p21.3	UniSTS
Cytogenetic Map	15	q21.3	UniSTS
Cytogenetic Map	10	q22.2	UniSTS
Cytogenetic Map	2	q35	UniSTS
Cytogenetic Map	3	q27.1	UniSTS
Cytogenetic Map	22	q11.21	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	3	p25.1	UniSTS
Cytogenetic Map	10	q25-q26	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	17	q21.2	UniSTS
Cytogenetic Map	5	q33.1	UniSTS
Cytogenetic Map	7	p14	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	2	q31.1	UniSTS
Cytogenetic Map	16	q22.1	UniSTS

D8S2279

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	21	q22.12	UniSTS
Cytogenetic Map	15	q13	UniSTS
Cytogenetic Map	9	q32	UniSTS
Cytogenetic Map	15	q22.3	UniSTS
Cytogenetic Map	17	p12	UniSTS
Cytogenetic Map	21	q21.3	UniSTS
Cytogenetic Map	3	p22-p21.3	UniSTS
Cytogenetic Map	1	q21.1	UniSTS
Cytogenetic Map	2	q24.2	UniSTS
Cytogenetic Map	17	q24.2	UniSTS
Cytogenetic Map	1	q32	UniSTS
Cytogenetic Map	3	p25.3	UniSTS
Cytogenetic Map	20	q13.3	UniSTS
Cytogenetic Map	2	q31.1	UniSTS
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	3	p14.1	UniSTS
Cytogenetic Map	2	q37.3	UniSTS
Cytogenetic Map	7	p14.1	UniSTS
Cytogenetic Map	2	q22.3	UniSTS
Cytogenetic Map	15	q13.2	UniSTS
Cytogenetic Map	12	q24.1	UniSTS
Cytogenetic Map	7	p15.2	UniSTS
Cytogenetic Map	5	q31.2	UniSTS
Cytogenetic Map	2	p25.2	UniSTS
Cytogenetic Map	3	p24.3	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	15	q22.31	UniSTS
Cytogenetic Map	5	q14	UniSTS
Cytogenetic Map	5	q31	UniSTS
Cytogenetic Map	1	p36.32	UniSTS
Cytogenetic Map	1	q42.12	UniSTS
Cytogenetic Map	7	q21.11	UniSTS
Cytogenetic Map	9	q34.2	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	8	q22.3	UniSTS
Cytogenetic Map	6	p21.1-p12	UniSTS
Cytogenetic Map	1	p36.13	UniSTS
Cytogenetic Map	7	q36.3	UniSTS
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	7	p21.3	UniSTS
Cytogenetic Map	4	q12	UniSTS
Cytogenetic Map	22	q11.22	UniSTS
Cytogenetic Map	11	p13	UniSTS
Cytogenetic Map	1	q12	UniSTS
Cytogenetic Map	8	p23	UniSTS
Cytogenetic Map	11	q13.2-q13.3	UniSTS
Cytogenetic Map	13	q14.1-q14.3	UniSTS
Cytogenetic Map	3	q22-q24	UniSTS
Cytogenetic Map	3	q13.1-q13.2	UniSTS
Cytogenetic Map	16	q24	UniSTS
Cytogenetic Map	5	q23.3-q31.1	UniSTS
Cytogenetic Map	8	p21.3	UniSTS
Cytogenetic Map	14	q32.3	UniSTS
Cytogenetic Map	7	q11.23	UniSTS
Cytogenetic Map	7	q32	UniSTS
Cytogenetic Map	14	q32.33	UniSTS
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	9	q34.3	UniSTS
Cytogenetic Map	1	p32.3	UniSTS
Cytogenetic Map	17	q11	UniSTS
Cytogenetic Map	17	p13.1-p12	UniSTS
Cytogenetic Map	18	q21.33	UniSTS
Cytogenetic Map	19	p13.12	UniSTS
Cytogenetic Map	5	q14.1	UniSTS
Cytogenetic Map	14	q24.3	UniSTS
Cytogenetic Map	1	q21-q23	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
Cytogenetic Map	4	q21.1	UniSTS
Cytogenetic Map	12	q13.13	UniSTS
Cytogenetic Map	14	q23.3	UniSTS
Cytogenetic Map	17	p12-p11.2	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	1	q24	UniSTS
Cytogenetic Map	1	q43	UniSTS
Cytogenetic Map	9	q34.13	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
Cytogenetic Map	2	q32	UniSTS
Cytogenetic Map	X	p22.2	UniSTS
Cytogenetic Map	19	p13.11	UniSTS
Cytogenetic Map	2	q33	UniSTS
Cytogenetic Map	10	p13	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	3	q27	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	4	p16.1	UniSTS
Cytogenetic Map	14	q22.3	UniSTS
Cytogenetic Map	10	q23-q24	UniSTS
Cytogenetic Map	2	q37.1	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	14	q31-q32	UniSTS
Cytogenetic Map	5	p15.33	UniSTS
Cytogenetic Map	1	q23.2	UniSTS
Cytogenetic Map	16	q24.3	UniSTS
Cytogenetic Map	4	p14	UniSTS
Cytogenetic Map	2	q32.3	UniSTS
Cytogenetic Map	15	q21.1	UniSTS
Cytogenetic Map	4	q32.2	UniSTS
Cytogenetic Map	10	q23	UniSTS
Cytogenetic Map	5	q14.2	UniSTS
Cytogenetic Map	4	q32.1	UniSTS
Cytogenetic Map	1	q25.1	UniSTS
Cytogenetic Map	11	q14.1	UniSTS
Cytogenetic Map	4	p16.3	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	11	q23.1	UniSTS
Cytogenetic Map	3	p21.1	UniSTS
Cytogenetic Map	16	q22.2	UniSTS
Cytogenetic Map	14	q32.31	UniSTS
Cytogenetic Map	16	q11.2	UniSTS
Cytogenetic Map	6	q22	UniSTS
Cytogenetic Map	10	p15.3	UniSTS
Cytogenetic Map	11	q23	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	12	q12	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	19	q13.11	UniSTS
Cytogenetic Map	12	q24.31	UniSTS
Cytogenetic Map	15	q15	UniSTS
Cytogenetic Map	2	q33.1	UniSTS
Cytogenetic Map	22	q12.3	UniSTS
Cytogenetic Map	20	q11	UniSTS
Cytogenetic Map	22	q11.23	UniSTS
Cytogenetic Map	17	q25	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
Cytogenetic Map	3	p22.1	UniSTS
Cytogenetic Map	8	q22.1	UniSTS
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	18	p11.31	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	2	p22.1	UniSTS
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	1	p35.2	UniSTS
Cytogenetic Map	Y	p11.2	UniSTS
Cytogenetic Map	13	q13.1	UniSTS
Cytogenetic Map	20	q11.22	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	18	q12	UniSTS
Cytogenetic Map	17	q21.33	UniSTS
Cytogenetic Map	15	q15.1	UniSTS
Cytogenetic Map	3	q27.2	UniSTS
Cytogenetic Map	3	q21.3	UniSTS
Cytogenetic Map	5	p15.2	UniSTS
Cytogenetic Map	20	q13.12	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	1	q42	UniSTS
Cytogenetic Map	14	q32.11	UniSTS
Cytogenetic Map	17	q21.2-q21.3	UniSTS
Cytogenetic Map	5	q32-q34	UniSTS
Cytogenetic Map	15	q14	UniSTS
Cytogenetic Map	16	q13	UniSTS
Cytogenetic Map	3	q21.2	UniSTS
Cytogenetic Map	3	p21.3	UniSTS
Cytogenetic Map	14	q24.2	UniSTS
Cytogenetic Map	12	q24.13	UniSTS
Cytogenetic Map	13	q14.11	UniSTS
Cytogenetic Map	3	q27.3	UniSTS
Cytogenetic Map	1	q32.3	UniSTS
Cytogenetic Map	6	p22.1	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	6	q21	UniSTS
Cytogenetic Map	6	q25.3	UniSTS
Cytogenetic Map	2	p11.2	UniSTS
Cytogenetic Map	13	q14.3	UniSTS
Cytogenetic Map	17	q11.2	UniSTS
Cytogenetic Map	10	p12	UniSTS
Cytogenetic Map	2	q33.3	UniSTS
Cytogenetic Map	14	q21.3	UniSTS
Cytogenetic Map	8	p22-p21	UniSTS
Cytogenetic Map	18	q11.2	UniSTS
Cytogenetic Map	2	p15	UniSTS
Cytogenetic Map	17	q22	UniSTS
Cytogenetic Map	12	q21.33	UniSTS
Cytogenetic Map	20	q13.32	UniSTS
Cytogenetic Map	1	p34.1	UniSTS
Cytogenetic Map	10	q26	UniSTS
Cytogenetic Map	8	p23.1	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	7	q21.13	UniSTS
Cytogenetic Map	7	q31.1	UniSTS
Cytogenetic Map	1	p33	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
Cytogenetic Map	1	p35.1	UniSTS
Cytogenetic Map	22	q12.2	UniSTS
Cytogenetic Map	9	q22.3	UniSTS
Cytogenetic Map	8	q13.1	UniSTS
Cytogenetic Map	3	q25	UniSTS
Cytogenetic Map	1	p36.33	UniSTS
Cytogenetic Map	20	q13.33	UniSTS
Cytogenetic Map	1	p31.3	UniSTS
Cytogenetic Map	14	q31.1	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	12	q13.2	UniSTS
Cytogenetic Map	22	q13.31-q13.33	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
Cytogenetic Map	11	p11.2	UniSTS
Cytogenetic Map	1	q41	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	15	q25.2	UniSTS
Cytogenetic Map	14	q11.2	UniSTS
Cytogenetic Map	17	q23.2	UniSTS
Cytogenetic Map	7	q32.2	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	6	q25.1	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	9	p13.3	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	2	p13.1	UniSTS
Cytogenetic Map	22	q11.21	UniSTS
Cytogenetic Map	3	q29	UniSTS
Cytogenetic Map	7	p13	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	14	q31-q32.1	UniSTS
Cytogenetic Map	1	q42.11	UniSTS
Cytogenetic Map	4	q35.1	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	2	p13.3	UniSTS
Cytogenetic Map	X	p11.3	UniSTS
Cytogenetic Map	2	q11.2-q12.1	UniSTS
Cytogenetic Map	20	q13.13	UniSTS
Cytogenetic Map	1	p22	UniSTS
Cytogenetic Map	6	q16.2	UniSTS
Cytogenetic Map	18	q23	UniSTS
Cytogenetic Map	2	q14	UniSTS
Cytogenetic Map	20	p11.23-p11.21	UniSTS
Cytogenetic Map	16	p12.2	UniSTS
Cytogenetic Map	8	p11.23	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
Cytogenetic Map	19	q13	UniSTS
Cytogenetic Map	8	p11.21	UniSTS
Cytogenetic Map	12	q14.3	UniSTS
Cytogenetic Map	X	q26.3	UniSTS
Cytogenetic Map	8	q24.11	UniSTS
Cytogenetic Map	10	q23.1	UniSTS
Cytogenetic Map	1	q44	UniSTS
Cytogenetic Map	9	q22.33	UniSTS
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	17	p13.2	UniSTS
Cytogenetic Map	9	q21.32	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	9	q33.3	UniSTS
Cytogenetic Map	1	p36.1	UniSTS
Cytogenetic Map	20	q12	UniSTS
Cytogenetic Map	4	q21.23	UniSTS
Cytogenetic Map	5	q13.2	UniSTS
Cytogenetic Map	22	q12.1	UniSTS
Cytogenetic Map	5	q31.1	UniSTS
Cytogenetic Map	2	q21.3	UniSTS
Cytogenetic Map	7	q21.2	UniSTS
Cytogenetic Map	17	q22.2	UniSTS
Cytogenetic Map	17	p13	UniSTS
Cytogenetic Map	12	q24.11	UniSTS
Cytogenetic Map	18	q21	UniSTS
Cytogenetic Map	10	q11.1	UniSTS
Cytogenetic Map	22	q11.2	UniSTS
Cytogenetic Map	19	q12	UniSTS
Cytogenetic Map	7	q34-q35	UniSTS
Cytogenetic Map	15	q24.1	UniSTS
Cytogenetic Map	18	p11.21	UniSTS
Cytogenetic Map	1	q23.1	UniSTS
Cytogenetic Map	19	q13.41	UniSTS
Cytogenetic Map	6	p25.1-p23	UniSTS
Cytogenetic Map	11	p15.4	UniSTS
Cytogenetic Map	10	q22	UniSTS
Cytogenetic Map	5	q35.3	UniSTS
Cytogenetic Map	18	q12.1-q21.1	UniSTS
Cytogenetic Map	12	p13.1	UniSTS
Cytogenetic Map	13	q12.1	UniSTS
Cytogenetic Map	12	q15	UniSTS
Cytogenetic Map	6	p21.32	UniSTS
Cytogenetic Map	8	q24.3	UniSTS
Cytogenetic Map	10	p14	UniSTS
Cytogenetic Map	12	p13.1-p12.3	UniSTS
Cytogenetic Map	3	p25.2	UniSTS
Cytogenetic Map	6	p21.33	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
Cytogenetic Map	3	p21.2	UniSTS
Cytogenetic Map	10	q26.3	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
Cytogenetic Map	X	p21.2	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	14	q12	UniSTS
Cytogenetic Map	8	p11.22	UniSTS
Cytogenetic Map	19	q13.32	UniSTS
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	9	q21.12	UniSTS
Cytogenetic Map	15	q23	UniSTS
Cytogenetic Map	7	p22.2	UniSTS
Cytogenetic Map	8	p21.2	UniSTS
Cytogenetic Map	7	q33	UniSTS
Cytogenetic Map	15	q15.3	UniSTS
Cytogenetic Map	4	q21.22	UniSTS
Cytogenetic Map	12	q13.12	UniSTS
Cytogenetic Map	10	q24.31	UniSTS
Cytogenetic Map	12	p13.31	UniSTS
Cytogenetic Map	14	q32.12	UniSTS
Cytogenetic Map	10	q24.32	UniSTS
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	16	p12.3	UniSTS
Cytogenetic Map	1	p34.3	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	2	q24.3	UniSTS
Cytogenetic Map	2	q33.2	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	1	p31.1	UniSTS
Cytogenetic Map	19	q13.33	UniSTS
Cytogenetic Map	1	p36.31	UniSTS
Cytogenetic Map	3	q13.31	UniSTS
Cytogenetic Map	15	q22.2	UniSTS
Cytogenetic Map	5	q32	UniSTS
Cytogenetic Map	6	q13	UniSTS
Cytogenetic Map	X	q24	UniSTS
Cytogenetic Map	6	q25	UniSTS
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	2	q35	UniSTS
Cytogenetic Map	12	p13-p12	UniSTS
Cytogenetic Map	9	p13.2	UniSTS
Cytogenetic Map	6	p22	UniSTS
Cytogenetic Map	2	q12.1	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	9	q22.2	UniSTS
Cytogenetic Map	1	q22	UniSTS
Cytogenetic Map	1	p22.1	UniSTS
Cytogenetic Map	1	p36	UniSTS
Cytogenetic Map	9	q13-q21	UniSTS
Cytogenetic Map	11	p15.5	UniSTS
Cytogenetic Map	X	p11.2	UniSTS
Cytogenetic Map	19	p	UniSTS
Cytogenetic Map	19	p13.1-p12	UniSTS
Cytogenetic Map	7	q22	UniSTS
Cytogenetic Map	12	q24.33	UniSTS
Cytogenetic Map	3	q21	UniSTS
Cytogenetic Map	8	q24	UniSTS
Cytogenetic Map	18	p11.31-p11.21	UniSTS
Cytogenetic Map	11	p15.3-p15.1	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	8	q22	UniSTS
Cytogenetic Map	4	p15.1	UniSTS
Cytogenetic Map	1	q25.2	UniSTS
Cytogenetic Map	2	p16.3	UniSTS
Cytogenetic Map	16	p13.12	UniSTS
Cytogenetic Map	7	p21.2	UniSTS
Cytogenetic Map	12	q21.1	UniSTS
Cytogenetic Map	2	p14	UniSTS
Cytogenetic Map	6	q24.3	UniSTS
Cytogenetic Map	10	q22.2	UniSTS
Cytogenetic Map	5	q23.1	UniSTS
Cytogenetic Map	10	q23.2	UniSTS
Cytogenetic Map	7	p22.3	UniSTS
Cytogenetic Map	21	q22.2	UniSTS
Cytogenetic Map	6	q22.1	UniSTS
Cytogenetic Map	1	q42.1	UniSTS
Cytogenetic Map	1	q25	UniSTS
Cytogenetic Map	6	p22.3	UniSTS
Cytogenetic Map	1	q21.2	UniSTS
Cytogenetic Map	15	q22.1	UniSTS
Cytogenetic Map	12	p13.2	UniSTS
Cytogenetic Map	12	q22	UniSTS
Cytogenetic Map	3	p21-p12	UniSTS
Cytogenetic Map	4	q35	UniSTS
Cytogenetic Map	1	p34-p33	UniSTS
Cytogenetic Map	21	q22.11	UniSTS
Cytogenetic Map	3	p22-p21.33	UniSTS
Cytogenetic Map	3	q23	UniSTS
Cytogenetic Map	3	q22.1	UniSTS
Cytogenetic Map	8	q21.11	UniSTS
Cytogenetic Map	X	q22.3	UniSTS
Cytogenetic Map	7	p14	UniSTS
Cytogenetic Map	17	q21.1	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	1	q42.3	UniSTS
Cytogenetic Map	9	q22	UniSTS
Cytogenetic Map	2	q12.3	UniSTS
Cytogenetic Map	20	q11.2-q13.2	UniSTS
Cytogenetic Map	17	q21.31	UniSTS
Cytogenetic Map	17	q24	UniSTS
Cytogenetic Map	3	q25.31	UniSTS
Cytogenetic Map	6	p24.3	UniSTS
Cytogenetic Map	2	q31.3	UniSTS
Cytogenetic Map	1	q31	UniSTS
Cytogenetic Map	7	q32-q33	UniSTS
Cytogenetic Map	7	q21.1	UniSTS
Cytogenetic Map	14	q23-q24.2	UniSTS
Cytogenetic Map	19	q13.3-q13.4	UniSTS
Cytogenetic Map	2	p24-p21	UniSTS
Cytogenetic Map	15	q11.2	UniSTS
Cytogenetic Map	15	q26.3	UniSTS
Cytogenetic Map	7	p22	UniSTS
Cytogenetic Map	12	p11	UniSTS
Cytogenetic Map	1	p35.3	UniSTS
Cytogenetic Map	1	p12	UniSTS
Cytogenetic Map	13	q32.3	UniSTS
Cytogenetic Map	5	q23.3	UniSTS
Cytogenetic Map	20	q13	UniSTS
Cytogenetic Map	17	q25.2	UniSTS
Cytogenetic Map	7	q36.1	UniSTS
Cytogenetic Map	10	p12.33	UniSTS
Cytogenetic Map	17	q21.32	UniSTS
Cytogenetic Map	X	p11.22	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
Cytogenetic Map	X	q25-q26	UniSTS
Cytogenetic Map	2	q36.1	UniSTS
Cytogenetic Map	5	p13	UniSTS
Cytogenetic Map	15	q25	UniSTS
Cytogenetic Map	5	q12.1	UniSTS
Cytogenetic Map	5	p12	UniSTS
Cytogenetic Map	1	p36.22	UniSTS
Cytogenetic Map	3	q26.31	UniSTS
Cytogenetic Map	17	q22-q23	UniSTS
Cytogenetic Map	X	p22.33	UniSTS
Cytogenetic Map	Y	p11.3	UniSTS
Cytogenetic Map	17	p11.2	UniSTS
Cytogenetic Map	X	q13.2	UniSTS
Cytogenetic Map	12	q23.1	UniSTS
Cytogenetic Map	16	q12.2	UniSTS
Cytogenetic Map	3	q26.32	UniSTS
Cytogenetic Map	6	q22.31	UniSTS
Cytogenetic Map	3	q26.2-q27	UniSTS
Cytogenetic Map	1	q25.1-q25.2	UniSTS
Cytogenetic Map	14	q24	UniSTS
Cytogenetic Map	9	q21.13	UniSTS
Cytogenetic Map	10	q11.22	UniSTS
Cytogenetic Map	22	q13.31	UniSTS
Cytogenetic Map	3	p25.1	UniSTS
Cytogenetic Map	5	q21.3	UniSTS
Cytogenetic Map	5	p13.3	UniSTS
Cytogenetic Map	10	q22.1	UniSTS
Cytogenetic Map	14	q12-q13	UniSTS
Cytogenetic Map	X	p22	UniSTS
Cytogenetic Map	X	q23	UniSTS
Cytogenetic Map	20	p12.3-p11.21	UniSTS
Cytogenetic Map	2	p21	UniSTS
Cytogenetic Map	17	q11.2-q12	UniSTS
Cytogenetic Map	4	q32-q34	UniSTS
Cytogenetic Map	X	q25-q26.1	UniSTS
Cytogenetic Map	2	p25-p24	UniSTS
Cytogenetic Map	2	p25	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	X	p22.2-p22.1	UniSTS
Cytogenetic Map	X	q22.1	UniSTS
Cytogenetic Map	4	q25	UniSTS
Cytogenetic Map	3	p24.2	UniSTS
Cytogenetic Map	22	q13	UniSTS
Cytogenetic Map	20	q11.22-q12	UniSTS
Cytogenetic Map	4	q34.2	UniSTS
Cytogenetic Map	20	p13	UniSTS
Cytogenetic Map	22	q13.1-q13.2	UniSTS
Cytogenetic Map	X	q28	UniSTS
Cytogenetic Map	12	q13-q14	UniSTS
Cytogenetic Map	6	q14.1	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	9	q31.2	UniSTS
Cytogenetic Map	11	q13.1-q13.2	UniSTS
Cytogenetic Map	12	q13	UniSTS
Cytogenetic Map	1	p32-p31	UniSTS
Cytogenetic Map	21	q21.2	UniSTS
Cytogenetic Map	10	q24.3	UniSTS
Cytogenetic Map	16	q21	UniSTS
Cytogenetic Map	8	q21.1	UniSTS
Cytogenetic Map	5	p13.2	UniSTS
Cytogenetic Map	1	p34	UniSTS
Cytogenetic Map	1	q32.2	UniSTS
Cytogenetic Map	4	q21.3	UniSTS
Cytogenetic Map	7	q21-q22	UniSTS
Cytogenetic Map	3	q26.2	UniSTS
Cytogenetic Map	2	q36.3	UniSTS
Cytogenetic Map	8	p22	UniSTS
Cytogenetic Map	11	q22.1	UniSTS
Cytogenetic Map	3	q25.33	UniSTS
Cytogenetic Map	10	q23.31	UniSTS
Cytogenetic Map	4	p15.32	UniSTS
Cytogenetic Map	18	q12.2	UniSTS
Cytogenetic Map	15	q15.2	UniSTS
Cytogenetic Map	5	q12.3	UniSTS
Cytogenetic Map	14	q24.1	UniSTS
Cytogenetic Map	12	q14.1	UniSTS
Cytogenetic Map	6	p22.3-p22.1	UniSTS
Cytogenetic Map	7	p11.2	UniSTS
Cytogenetic Map	6	q15	UniSTS
Cytogenetic Map	6	q23.3	UniSTS
Cytogenetic Map	13	q14	UniSTS
Cytogenetic Map	5	q35.2	UniSTS
Cytogenetic Map	10	q22.3	UniSTS
Cytogenetic Map	1	p35	UniSTS
Cytogenetic Map	3	q12.3	UniSTS
Cytogenetic Map	19	q13.31	UniSTS
Cytogenetic Map	8	q23.1	UniSTS
Cytogenetic Map	6	q27	UniSTS
Cytogenetic Map	2	q14.3	UniSTS
Cytogenetic Map	X	p11	UniSTS
Cytogenetic Map	11	p15.3	UniSTS
Cytogenetic Map	20	p12	UniSTS
Cytogenetic Map	15	q13.1	UniSTS
Cytogenetic Map	X	p22.3	UniSTS
Cytogenetic Map	11	q13.5	UniSTS
Cytogenetic Map	19	p13.3-p13.2	UniSTS
Cytogenetic Map	1	p36.11-p34.2	UniSTS
Cytogenetic Map	4	q22.1-q23	UniSTS
Cytogenetic Map	7	q22.3	UniSTS
Cytogenetic Map	9	p22	UniSTS
Cytogenetic Map	17	q23.3	UniSTS
Cytogenetic Map	16	q23.2	UniSTS
Cytogenetic Map	2	p16.1	UniSTS
Cytogenetic Map	3	q27.1	UniSTS
Cytogenetic Map	2	p22.3	UniSTS
Cytogenetic Map	X	q26.1	UniSTS
Cytogenetic Map	4	q21.21	UniSTS
Cytogenetic Map	22	q13.3	UniSTS
Cytogenetic Map	2	q32.1	UniSTS
Cytogenetic Map	Y	p11.32	UniSTS
Cytogenetic Map	11	p14	UniSTS
Cytogenetic Map	1	p32.1	UniSTS
Cytogenetic Map	2	p25.3	UniSTS
Cytogenetic Map	4	q34.3	UniSTS
Cytogenetic Map	9	p12	UniSTS
Cytogenetic Map	3	q13.13	UniSTS
Cytogenetic Map	13	q34	UniSTS
Cytogenetic Map	3	p21	UniSTS
Cytogenetic Map	11	q23.2	UniSTS
Cytogenetic Map	20	p11.23	UniSTS
Cytogenetic Map	3	p13	UniSTS
Cytogenetic Map	4	p13	UniSTS
Cytogenetic Map	16	q23.1	UniSTS
Cytogenetic Map	10	p11.23	UniSTS
Cytogenetic Map	8	p21.1	UniSTS
Cytogenetic Map	15	q22-q24	UniSTS
Cytogenetic Map	8	q23	UniSTS
Cytogenetic Map	16	q12.1	UniSTS
Cytogenetic Map	14	q13.2	UniSTS
Cytogenetic Map	18	q12.1	UniSTS
Cytogenetic Map	5	q31.3	UniSTS
Cytogenetic Map	11	q14	UniSTS
Cytogenetic Map	13	q33.1	UniSTS
Cytogenetic Map	14	q21.2	UniSTS
Cytogenetic Map	4	q31.3	UniSTS
Cytogenetic Map	15	q21-q22	UniSTS
Cytogenetic Map	3	p14.3	UniSTS
Cytogenetic Map	17	p13.1	UniSTS
Cytogenetic Map	13	q12.11	UniSTS
Cytogenetic Map	6	p21.2	UniSTS
Cytogenetic Map	15	q21.3	UniSTS
Cytogenetic Map	3	q21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
Cytogenetic Map	10	p15.1	UniSTS
Cytogenetic Map	1	q24.2	UniSTS
Cytogenetic Map	12	p12	UniSTS
Cytogenetic Map	7	p22.1	UniSTS
Cytogenetic Map	11	q24	UniSTS
Cytogenetic Map	21	q22.13	UniSTS
Cytogenetic Map	15	q22.1-q22.31	UniSTS
Cytogenetic Map	15	q22	UniSTS
Cytogenetic Map	X	q13	UniSTS
Cytogenetic Map	1	q31-q41	UniSTS
Cytogenetic Map	6	p25	UniSTS
Cytogenetic Map	14	q32.1	UniSTS
Cytogenetic Map	16	q12-q13	UniSTS
Cytogenetic Map	X	q12-q13	UniSTS
Cytogenetic Map	14	q23	UniSTS
Cytogenetic Map	12	q11-q12	UniSTS
Cytogenetic Map	1	q42.1-q43	UniSTS
Cytogenetic Map	3	q13.33	UniSTS
Cytogenetic Map	7	q31	UniSTS
Cytogenetic Map	12	q24	UniSTS
Cytogenetic Map	X	p22.11	UniSTS
Cytogenetic Map	11	q13.4	UniSTS
Cytogenetic Map	2	p25.1-p24.1	UniSTS
Cytogenetic Map	8	q24.21	UniSTS
Cytogenetic Map	12	q13.1	UniSTS
Cytogenetic Map	12	q22-q23.1	UniSTS
Cytogenetic Map	11	q12.2	UniSTS
Cytogenetic Map	1	p13.2	UniSTS
Cytogenetic Map	5	q31.2-q34	UniSTS
Cytogenetic Map	11	p15.1	UniSTS
Cytogenetic Map	6	q24.2	UniSTS
Cytogenetic Map	22	q	UniSTS
Cytogenetic Map	12	q13.11-q14.3	UniSTS
Cytogenetic Map	7	p11	UniSTS
Cytogenetic Map	X	p22.12-p22.11	UniSTS
Cytogenetic Map	7	q11.21	UniSTS
Cytogenetic Map	20	q11.22-q11.23	UniSTS
Cytogenetic Map	8	q24.22	UniSTS
Cytogenetic Map	8	p22-p21.3	UniSTS
Cytogenetic Map	10	q24	UniSTS
Cytogenetic Map	1	q21.2-q21.3	UniSTS
Cytogenetic Map	1	p36.12	UniSTS
Cytogenetic Map	9	p24.1	UniSTS
Cytogenetic Map	6	q25.2-q27	UniSTS
Cytogenetic Map	9	q34	UniSTS
Cytogenetic Map	5	p13.1	UniSTS
Cytogenetic Map	8	q11.2	UniSTS
Cytogenetic Map	3	q28-q29	UniSTS
Cytogenetic Map	7	p14-p13	UniSTS
Cytogenetic Map	12	q24.2	UniSTS
Cytogenetic Map	6	p22.2	UniSTS
Cytogenetic Map	7	q22-qter	UniSTS
Cytogenetic Map	12	q24.2-q24.31	UniSTS
Cytogenetic Map	X	q13.1	UniSTS
Cytogenetic Map	6	p25.2	UniSTS
Cytogenetic Map	1	p21	UniSTS
Cytogenetic Map	1	q32.2-q41	UniSTS
Cytogenetic Map	11	q22-q23	UniSTS
Cytogenetic Map	3	q26.33	UniSTS
Cytogenetic Map	12	q23-q24.1	UniSTS
Cytogenetic Map	5	p15.1-p14.3	UniSTS
Cytogenetic Map	16	p13.11	UniSTS
Cytogenetic Map	6	q22-q23	UniSTS
Cytogenetic Map	9	p21	UniSTS
Cytogenetic Map	6	p12.3	UniSTS
Cytogenetic Map	3	p12.1	UniSTS
Cytogenetic Map	9	q21.11	UniSTS
Cytogenetic Map	17	q24.1	UniSTS
Cytogenetic Map	10	q11.21	UniSTS
Cytogenetic Map	14	q21	UniSTS
Cytogenetic Map	11	p15	UniSTS
Cytogenetic Map	16	q22	UniSTS
Cytogenetic Map	15	q11-q13	UniSTS
Cytogenetic Map	13	q12-q14	UniSTS
Cytogenetic Map	18	q21.1	UniSTS
Cytogenetic Map	2	q24	UniSTS
Cytogenetic Map	12	p13	UniSTS
Cytogenetic Map	3	q28	UniSTS
Cytogenetic Map	7	q32.1	UniSTS
Cytogenetic Map	X	q22.2	UniSTS
Cytogenetic Map	7	p12.3	UniSTS
Cytogenetic Map	7	p15.1	UniSTS
Cytogenetic Map	2	q37.2	UniSTS
Cytogenetic Map	18	q22.3	UniSTS
Cytogenetic Map	14	q32.13	UniSTS
Cytogenetic Map	14	q22.1	UniSTS
Cytogenetic Map	16	p13.1	UniSTS
Cytogenetic Map	7	q31.3	UniSTS
Cytogenetic Map	20	q13.2-q13.3	UniSTS
Cytogenetic Map	1	p21.2	UniSTS
Cytogenetic Map	9	q21.33	UniSTS
Cytogenetic Map	14	q32.2	UniSTS
Cytogenetic Map	13	q13.3	UniSTS
Cytogenetic Map	10	p12.31	UniSTS
Cytogenetic Map	22	q11.1	UniSTS
Cytogenetic Map	5	q33.2	UniSTS
Cytogenetic Map	13	q32.2	UniSTS
Cytogenetic Map	14	q23.1	UniSTS
Cytogenetic Map	8	q21.2	UniSTS
Cytogenetic Map	2	q24.1	UniSTS
Cytogenetic Map	10	q26.13	UniSTS
Cytogenetic Map	2	q23.3	UniSTS
Cytogenetic Map	19	p13.1	UniSTS
Cytogenetic Map	15	q14-q15	UniSTS
Cytogenetic Map	1	q42.13	UniSTS
Cytogenetic Map	14	q31	UniSTS
Cytogenetic Map	7	p21.1	UniSTS
Cytogenetic Map	8	p12-p11	UniSTS
Cytogenetic Map	18	p11.2	UniSTS
Cytogenetic Map	7	p11.1	UniSTS
Cytogenetic Map	1	q31-q32	UniSTS
Cytogenetic Map	2	q12	UniSTS
Cytogenetic Map	3	p21.32	UniSTS
Cytogenetic Map	2	p24.2	UniSTS
Cytogenetic Map	2	q33-q34	UniSTS
Cytogenetic Map	6	q24.1	UniSTS
Cytogenetic Map	4	q22.1	UniSTS
Cytogenetic Map	15	q13.3	UniSTS
Cytogenetic Map	10	q26.11	UniSTS
Cytogenetic Map	7	p15.3	UniSTS
Cytogenetic Map	10	q23.33	UniSTS
Cytogenetic Map	12	p12.1	UniSTS
Cytogenetic Map	7	p13-p12	UniSTS
Cytogenetic Map	X	q25	UniSTS
Cytogenetic Map	17	q11-q21	UniSTS
Cytogenetic Map	12	q23	UniSTS
Cytogenetic Map	6	p24-p22.3	UniSTS
Cytogenetic Map	14	q23.2	UniSTS
Cytogenetic Map	7	q31.1-q31.2	UniSTS
Cytogenetic Map	8	q22.2	UniSTS
Cytogenetic Map	15	q21.2	UniSTS
Cytogenetic Map	3	p26.1-p25.1	UniSTS
Cytogenetic Map	5	q35	UniSTS
Cytogenetic Map	3	q13.2	UniSTS
Cytogenetic Map	4	p15.2	UniSTS
Cytogenetic Map	6	q16.3	UniSTS
Cytogenetic Map	17	q24-q25	UniSTS
Cytogenetic Map	X	q12	UniSTS
Cytogenetic Map	X	q27.1	UniSTS
Cytogenetic Map	8	q12.3	UniSTS
Cytogenetic Map	5	q21.2	UniSTS
Cytogenetic Map	5	q15	UniSTS
Cytogenetic Map	5	q35.1	UniSTS
Cytogenetic Map	4	q13.3	UniSTS
Cytogenetic Map	4	q35.2	UniSTS
Cytogenetic Map	3	p26.1	UniSTS
Cytogenetic Map	3	p11.1	UniSTS
Cytogenetic Map	17	q21.2	UniSTS
Cytogenetic Map	2	q21.2	UniSTS
Cytogenetic Map	19	p13.13	UniSTS
Cytogenetic Map	18	q12.3	UniSTS
Cytogenetic Map	18	p11.3	UniSTS
Cytogenetic Map	17	q11.1	UniSTS
Cytogenetic Map	15	q25.1	UniSTS
Cytogenetic Map	13	q12.3	UniSTS
Cytogenetic Map	12	q23.2	UniSTS
Cytogenetic Map	12	q12-q13	UniSTS
Cytogenetic Map	12	q14	UniSTS
Cytogenetic Map	5	q33.1	UniSTS
Cytogenetic Map	2	q32-q34	UniSTS
Cytogenetic Map	16	q22.3	UniSTS
Cytogenetic Map	2	p15-p13	UniSTS
Cytogenetic Map	X	p11.4	UniSTS
Cytogenetic Map	19	q13.33-q13.41	UniSTS
Cytogenetic Map	20	p11	UniSTS
Cytogenetic Map	6	q23-q24	UniSTS
Cytogenetic Map	2	p12	UniSTS
Cytogenetic Map	2	p13	UniSTS
Cytogenetic Map	13	q11-q12	UniSTS
Cytogenetic Map	6	p12.3-p11.2	UniSTS
Cytogenetic Map	6	q16.1-q16.3	UniSTS
Cytogenetic Map	22	q11	UniSTS
Cytogenetic Map	7	q31.2	UniSTS
Cytogenetic Map	10	q21.3	UniSTS
Cytogenetic Map	3	q25.2	UniSTS
Cytogenetic Map	3	p21.1-p14.3	UniSTS
Cytogenetic Map	6	p12.1	UniSTS
Cytogenetic Map	3	q23-q24	UniSTS
Cytogenetic Map	3	q12	UniSTS
Cytogenetic Map	7	q11.1	UniSTS
Cytogenetic Map	3	q22.3	UniSTS
Cytogenetic Map	7	q21.3	UniSTS
Cytogenetic Map	4	q31.1	UniSTS
Cytogenetic Map	22	q12-q13	UniSTS
Cytogenetic Map	4	q23	UniSTS
Cytogenetic Map	X	p22.12	UniSTS
Cytogenetic Map	6	q16.1	UniSTS
Cytogenetic Map	13	q14.13	UniSTS
Cytogenetic Map	18	q21.3	UniSTS
Cytogenetic Map	9	q33.2	UniSTS
Cytogenetic Map	11	q21	UniSTS
Cytogenetic Map	8	q12	UniSTS
Cytogenetic Map	4	q28-q32	UniSTS
Cytogenetic Map	17	q24.3	UniSTS
Cytogenetic Map	6	p23	UniSTS
Cytogenetic Map	8	p11	UniSTS
Cytogenetic Map	5	q34	UniSTS
Cytogenetic Map	1	q24.3	UniSTS
Cytogenetic Map	9	q33.1	UniSTS
Cytogenetic Map	1	q23.3	UniSTS
Cytogenetic Map	2	p16.2	UniSTS
Cytogenetic Map	9	q22.31	UniSTS
Cytogenetic Map	9	p24.3	UniSTS
Cytogenetic Map	7	q35	UniSTS
Cytogenetic Map	1	p36.2	UniSTS
Cytogenetic Map	11	q22.3	UniSTS
Cytogenetic Map	16	p12	UniSTS
Cytogenetic Map	1	q22-q23	UniSTS
Cytogenetic Map	13	q22.1	UniSTS
Cytogenetic Map	2	q12.2	UniSTS
Cytogenetic Map	8	p12	UniSTS
Cytogenetic Map	4	q21	UniSTS
Cytogenetic Map	13	q12.2	UniSTS
Cytogenetic Map	9	q31-q33	UniSTS
Cytogenetic Map	6	p24.1	UniSTS
Cytogenetic Map	1	q23	UniSTS
Cytogenetic Map	11	q12-q13	UniSTS
Cytogenetic Map	11	q13.3	UniSTS
Cytogenetic Map	11	q24.2	UniSTS
Cytogenetic Map	11	q12.1	UniSTS
Cytogenetic Map	3	p26	UniSTS
Cytogenetic Map	5	q13	UniSTS
Cytogenetic Map	8	p21	UniSTS
Cytogenetic Map	19	q13.1-q13.2	UniSTS
Cytogenetic Map	1	p33-p32	UniSTS
Cytogenetic Map	7	q36.2	UniSTS
Cytogenetic Map	4	q32.3	UniSTS
Cytogenetic Map	16	p13.2	UniSTS
Cytogenetic Map	14	q32	UniSTS
Cytogenetic Map	10	q11.23	UniSTS
Cytogenetic Map	10	q26.1	UniSTS
Cytogenetic Map	9	q32-q33.3	UniSTS
Cytogenetic Map	9	q22.1-q22.2	UniSTS
Cytogenetic Map	3	q26.1-q26.2	UniSTS
Cytogenetic Map	5	q31-q34	UniSTS
Cytogenetic Map	9	q33-q34	UniSTS
Cytogenetic Map	5	q11.2-q13.2	UniSTS
Cytogenetic Map	13	q32	UniSTS
Cytogenetic Map	9	q22.32	UniSTS
Cytogenetic Map	1	p36.3	UniSTS
Cytogenetic Map	1	p36.3-p36.2	UniSTS
Cytogenetic Map	4	q28.1	UniSTS
Cytogenetic Map	5	q22	UniSTS
Cytogenetic Map	12	p11.21	UniSTS
Cytogenetic Map	X	q13.3	UniSTS
Cytogenetic Map	9	q31.3	UniSTS
Cytogenetic Map	3	p26.3	UniSTS
Cytogenetic Map	2	q11.1	UniSTS
Cytogenetic Map	21	q11.2	UniSTS
Cytogenetic Map	18	q21.32	UniSTS
Cytogenetic Map	15	q26.2	UniSTS
Cytogenetic Map	12	q24.23	UniSTS
Cytogenetic Map	10	q25.3	UniSTS
Cytogenetic Map	20	q11.23	UniSTS
Cytogenetic Map	20	p12.1	UniSTS
Cytogenetic Map	2	q31.1-q31.2	UniSTS
Cytogenetic Map	X	p22.31	UniSTS
Cytogenetic Map	X	p21.3	UniSTS
Cytogenetic Map	5	q33.3	UniSTS
Cytogenetic Map	4	q28.2	UniSTS
Cytogenetic Map	3	p14.2	UniSTS
Cytogenetic Map	3	q24	UniSTS
Cytogenetic Map	2	q13	UniSTS
Cytogenetic Map	20	q13.2	UniSTS
Cytogenetic Map	14	q11.2-q12	UniSTS
Cytogenetic Map	3	p24	UniSTS
Cytogenetic Map	12	q23.3	UniSTS
Cytogenetic Map	11	q24.3	UniSTS
Cytogenetic Map	11	q14.3	UniSTS
Cytogenetic Map	10	q25.2	UniSTS
Cytogenetic Map	3	q25.1	UniSTS
Cytogenetic Map	8	q13	UniSTS
Cytogenetic Map	1	p22.2	UniSTS
Cytogenetic Map	3	p22.3	UniSTS
Cytogenetic Map	18	q11.1	UniSTS
Cytogenetic Map	8	q23.3	UniSTS
Cytogenetic Map	15	q24	UniSTS
Cytogenetic Map	11	cen-q12	UniSTS
Cytogenetic Map	11	q25	UniSTS
Cytogenetic Map	3	p22.2	UniSTS
Cytogenetic Map	X	p21.1	UniSTS
Cytogenetic Map	7	q36	UniSTS
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	12	q21	UniSTS
Cytogenetic Map	7	p15	UniSTS
Cytogenetic Map	7	q22-q31	UniSTS
Cytogenetic Map	11	q22	UniSTS
Cytogenetic Map	5	p15.3	UniSTS
Cytogenetic Map	20	q13.3-qter	UniSTS
Cytogenetic Map	1	p35-p34	UniSTS
Cytogenetic Map	4	p13-p12	UniSTS
Cytogenetic Map	10	q21-q22	UniSTS
Cytogenetic Map	4	q22	UniSTS
Cytogenetic Map	7	p13-p11.1	UniSTS
Cytogenetic Map	9	q31-q34	UniSTS
Cytogenetic Map	7	q21.1-q22	UniSTS
Cytogenetic Map	15	q26.1	UniSTS
Cytogenetic Map	3	q13.13-q13.2	UniSTS
Cytogenetic Map	X	p22.13	UniSTS
Cytogenetic Map	13	q12.12	UniSTS
Cytogenetic Map	13	q14.2	UniSTS
Cytogenetic Map	12	q	UniSTS
Cytogenetic Map	1	p	UniSTS
Cytogenetic Map	16	p	UniSTS
Cytogenetic Map	15	q	UniSTS
Cytogenetic Map	7	q	UniSTS
Cytogenetic Map	2	q	UniSTS
Cytogenetic Map	5	q13.1	UniSTS
Cytogenetic Map	11	p14.1	UniSTS
Cytogenetic Map	4	q32	UniSTS
Cytogenetic Map	2	p22	UniSTS
Cytogenetic Map	5	q14.3	UniSTS
Cytogenetic Map	10	p12.1	UniSTS
Cytogenetic Map	5	q23.2	UniSTS
Cytogenetic Map	2	p24.1	UniSTS
Cytogenetic Map	8	q24.13	UniSTS
Cytogenetic Map	12	p13.32	UniSTS
Cytogenetic Map	9	p21.1	UniSTS
Cytogenetic Map	9	q34.2-q34.3	UniSTS

G32234

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	211,543,606 - 211,543,796	UniSTS	GRCh37
Celera	2	205,311,489 - 205,311,679	UniSTS
Cytogenetic Map	2	q35	UniSTS
HuRef	2	203,389,872 - 203,390,062	UniSTS

G32934

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	211,523,507 - 211,523,640	UniSTS	GRCh37
Celera	2	205,291,387 - 205,291,520	UniSTS
Cytogenetic Map	2	q35	UniSTS
HuRef	2	203,369,771 - 203,369,904	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1204	2422	2788	2246	4962	1722	2343	5	621	1775	464	2268	7093	6287	52	3725	837	1730	1609	172

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_008285	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001122633	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001369257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001875	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_161225	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_163592	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB180933	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB180934	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB180935	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB180936	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB180937	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB180938	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB208800	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC007970	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC008172	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF154830	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF536523	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH012476	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK289749	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302778	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK316425	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL704546	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AV645723	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY317138	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC020695	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC058010	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC140943	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BJ995129	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP244862	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX537776	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX640601	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471063	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN367875	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CS380713	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D90282	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA804480	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC402554	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JA361688	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JA412925	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JA444092	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	N58033	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Y15793	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000233072 ⟹ ENSP00000233072

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,556,599 - 210,679,107 (+)	Ensembl

Ensembl Acc Id:

ENST00000430249 ⟹ ENSP00000402608

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,477,682 - 210,679,105 (+)	Ensembl

Ensembl Acc Id:

ENST00000451903 ⟹ ENSP00000406136

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,593,355 - 210,679,105 (+)	Ensembl

Ensembl Acc Id:

ENST00000467353

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,604,965 - 210,606,771 (+)	Ensembl

Ensembl Acc Id:

ENST00000470791

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,658,383 - 210,663,146 (+)	Ensembl

Ensembl Acc Id:

ENST00000479988

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,671,615 - 210,679,107 (+)	Ensembl

Ensembl Acc Id:

ENST00000497121

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,631,228 - 210,647,934 (+)	Ensembl

Ensembl Acc Id:

ENST00000497163

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,577,155 - 210,579,800 (+)	Ensembl

Ensembl Acc Id:

ENST00000619804 ⟹ ENSP00000480517

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,556,734 - 210,599,555 (+)	Ensembl

Ensembl Acc Id:

ENST00000645825

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,657,360 - 210,678,997 (+)	Ensembl

Ensembl Acc Id:

ENST00000671984

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,665,538 - 210,677,085 (+)	Ensembl

Ensembl Acc Id:

ENST00000673510 ⟹ ENSP00000500537

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,477,682 - 210,678,142 (+)	Ensembl

Ensembl Acc Id:

ENST00000673630 ⟹ ENSP00000501073

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,477,682 - 210,678,923 (+)	Ensembl

Ensembl Acc Id:

ENST00000673698 ⟹ ENSP00000501214

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,599,533 - 210,678,997 (+)	Ensembl

Ensembl Acc Id:

ENST00000673711 ⟹ ENSP00000501022

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,477,709 - 210,679,107 (+)	Ensembl

Ensembl Acc Id:

ENST00000674074

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,593,366 - 210,679,107 (+)	Ensembl

Ensembl Acc Id:

ENST00000881558 ⟹ ENSP00000551617

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,522,896 - 210,679,098 (+)	Ensembl

Ensembl Acc Id:

ENST00000881559 ⟹ ENSP00000551618

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,540,251 - 210,679,105 (+)	Ensembl

Ensembl Acc Id:

ENST00000881560 ⟹ ENSP00000551619

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,540,537 - 210,679,105 (+)	Ensembl

Ensembl Acc Id:

ENST00000881561 ⟹ ENSP00000551620

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,545,069 - 210,679,105 (+)	Ensembl

Ensembl Acc Id:

ENST00000881562 ⟹ ENSP00000551621

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,545,274 - 210,679,104 (+)	Ensembl

Ensembl Acc Id:

ENST00000881563 ⟹ ENSP00000551622

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,552,879 - 210,679,105 (+)	Ensembl

Ensembl Acc Id:

ENST00000881564 ⟹ ENSP00000551623

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,556,599 - 210,679,106 (+)	Ensembl

Ensembl Acc Id:

ENST00000921372 ⟹ ENSP00000591431

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,477,715 - 210,679,104 (+)	Ensembl

Ensembl Acc Id:

ENST00000921373 ⟹ ENSP00000591432

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,477,683 - 210,678,451 (+)	Ensembl

Ensembl Acc Id:

ENST00000965726 ⟹ ENSP00000635785

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	210,477,699 - 210,679,103 (+)	Ensembl

RefSeq Acc Id:

NM_001122633 ⟹ NP_001116105

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	210,477,685 - 210,679,107 (+)	NCBI
GRCh37	2	211,342,406 - 211,543,831 (+)	ENTREZGENE
HuRef	2	203,188,451 - 203,390,097 (+)	ENTREZGENE
CHM1_1	2	211,348,531 - 211,549,854 (+)	NCBI
T2T-CHM13v2.0	2	210,958,482 - 211,159,839 (+)	NCBI

Sequence:

show sequence

CTTTTAAAATAGTTGCTTTCTTAGGAAATGTAGTTGCTTTCTTAACCTCATCAAATTCATGAAG
ATTTAGCCGAGGCCCATGCCACAAATCATCAAAATGACGAGGATTTTGACAGCTTTCAAAGTGG
TGAGGACACTGAAGACTGGTTTTGGCTTTACCAATGTGACTGCACACCAAAAATGGAAATTTTC
AAGACCTGGCATCAGGCTCCTTTCTGTCAAGGCACAGACAGCACACATTGTCCTGGAAGATGGA
ACTAAGATGAAAGGTTACTCCTTTGGCCATCCATCCTCTGTTGCTGGTGAAGTGGTTTTTAATA
CTGGCCTGGGAGGGTACCCAGAAGCTATTACTGACCCTGCCTACAAAGGACAGATTCTCACAAT
GGCCAACCCTATTATTGGGAATGGTGGAGCTCCTGATACTACTGCTCTGGATGAACTGGGACTT
AGCAAATATTTGGAGTCTAATGGAATCAAGGTTTCAGGTTTGCTGGTGCTGGATTATAGTAAAG
ACTACAACCACTGGCTGGCTACCAAGAGTTTAGGGCAATGGCTACAGGAAGAAAAGGTTCCTGC
AATTTATGGAGTGGACACAAGAATGCTGACTAAAATAATTCGGGATAAGGGTACCATGCTTGGG
AAGATTGAATTTGAAGGTCAGCCTGTGGATTTTGTGGATCCAAATAAACAGAATTTGATTGCTG
AGGTTTCAACCAAGGATGTCAAAGTGTACGGCAAAGGAAACCCCACAAAAGTGGTAGCTGTAGA
CTGTGGGATTAAAAACAATGTAATCCGCCTGCTAGTAAAGCGAGGAGCTGAAGTGCACTTAGTT
CCCTGGAACCATGATTTCACCAAGATGGAGTATGATGGGATTTTGATCGCGGGAGGACCGGGGA
ACCCAGCTCTTGCAGAACCACTAATTCAGAATGTCAGAAAGATTTTGGAGAGTGATCGCAAGGA
GCCATTGTTTGGAATCAGTACAGGAAACTTAATAACAGGATTGGCTGCTGGTGCCAAAACCTAC
AAGATGTCCATGGCCAACAGAGGGCAGAATCAGCCTGTTTTGAATATCACAAACAAACAGGCTT
TCATTACTGCTCAGAATCATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAAACCACT
TTTTGTGAATGTCAACGATCAAACAAATGAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCT
GTGCAGTTCCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGTACCTGTTTGATTCCTTTT
TCTCACTGATAAAGAAAGGAAAAGCTACCACCATTACATCAGTCTTACCGAAGCCAGCACTAGT
TGCATCTCGGGTTGAGGTTTCCAAAGTCCTTATTCTAGGATCAGGAGGTCTGTCCATTGGTCAG
GCTGGAGAATTTGATTACTCAGGATCTCAAGCTGTAAAAGCCATGAAGGAAGAAAATGTCAAAA
CTGTTCTGATGAACCCAAACATTGCATCAGTCCAGACCAATGAGGTGGGCTTAAAGCAAGCGGA
TACTGTCTACTTTCTTCCCATCACCCCTCAGTTTGTCACAGAGGTCATCAAGGCAGAACAGCCA
GATGGGTTAATTCTGGGCATGGGTGGCCAGACAGCTCTGAACTGTGGAGTGGAACTATTCAAGA
GAGGTGTGCTCAAGGAATATGGTGTGAAAGTCCTGGGAACTTCAGTTGAGTCCATTATGGCTAC
GGAAGACAGGCAGCTGTTTTCAGATAAACTAAATGAGATCAATGAAAAGATTGCTCCAAGTTTT
GCAGTGGAATCGATTGAGGATGCACTGAAGGCAGCAGACACCATTGGCTACCCAGTGATGATCC
GTTCCGCCTATGCACTGGGTGGGTTAGGCTCAGGCATCTGTCCCAACAGAGAGACTTTGATGGA
CCTCAGCACAAAGGCCTTTGCTATGACCAACCAAATTCTGGTGGAGAAGTCAGTGACAGGTTGG
AAAGAAATAGAATATGAAGTGGTTCGAGATGCTGATGACAATTGTGTCACTGTCTGTAACATGG
AAAATGTTGATGCCATGGGTGTTCACACAGGTGACTCAGTTGTTGTGGCTCCTGCCCAGACACT
CTCCAATGCCGAGTTTCAGATGTTGAGACGTACTTCAATCAATGTTGTTCGCCACTTGGGCATT
GTGGGTGAATGCAACATTCAGTTTGCCCTTCATCCTACCTCAATGGAATACTGCATCATTGAAG
TGAATGCCAGACTGTCCCGAAGCTCTGCTCTGGCCTCAAAAGCCACTGGCTACCCATTGGCATT
CATTGCTGCAAAGATTGCCCTAGGAATCCCACTTCCAGAAATTAAGAACGTCGTATCCGGGAAG
ACATCAGCCTGTTTTGAACCTAGCCTGGATTACATGGTCACCAAGATTCCCCGCTGGGATCTTG
ACCGTTTTCATGGAACATCTAGCCGAATTGGTAGCTCTATGAAAAGTGTAGGAGAGGTCATGGC
TATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAA
GGTTTCACTCCCCGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGT
TGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCCAAGGCCATTGATGACAACATGTCCCT
TGATGAGATTGAGAAGCTCACATACATTGACAAGTGGTTTTTGTATAAGATGCGTGATATTTTA
AACATGGAAAAGACACTGAAAGGCCTCAACAGTGAGTCCATGACAGAAGAAACCCTGAAAAGGG
CAAAGGAGATTGGGTTCTCAGATAAGCAGATTTCAAAATGCCTTGGGCTCACTGAGGCCCAGAC
AAGGGAGCTGAGGTTAAAGAAAAACATCCACCCTTGGGTTAAACAGATTGATACACTGGCTGCA
GAATACCCATCAGTAACAAACTATCTCTATGTTACCTACAATGGTCAGGAGCATGATGTCAATT
TTGATGACCATGGAATGATGGTGCTAGGCTGTGGTCCATATCACATTGGCAGCAGTGTGGAATT
TGATTGGTGTGCTGTCTCTAGTATCCGCACACTGCGTCAACTTGGCAAGAAGACGGTGGTGGTG
AATTGCAATCCTGAGACTGTGAGCACAGACTTTGATGAGTGTGACAAACTGTACTTTGAAGAGT
TGTCCTTGGAGAGAATCCTAGACATCTACCATCAGGAGGCATGTGGTGGCTGCATCATATCAGT
TGGAGGCCAGATTCCAAACAACCTGGCAGTTCCTCTATACAAGAATGGTGTCAAGATCATGGGC
ACAAGCCCCCTGCAGATCGACAGGGCTGAGGATCGCTCCATCTTCTCAGCTGTCTTGGATGAGC
TGAAGGTGGCTCAGGCACCTTGGAAAGCTGTTAATACTTTGAATGAAGCACTGGAATTTGCAAA
GTCTGTGGACTACCCCTGCTTGTTGAGGCCTTCCTATGTTTTGAGTGGGTCTGCTATGAATGTG
GTATTCTCTGAGGATGAGATGAAAAAATTCCTAGAAGAGGCGACTAGAGTTTCTCAGGAGCACC
CAGTGGTGCTGACAAAATTTGTTGAAGGGGCCCGAGAAGTAGAAATGGACGCTGTTGGCAAAGA
TGGAAGGGTTATCTCTCATGCCATCTCTGAACATGTTGAAGATGCAGGTGTCCACTCGGGAGAT
GCCACTCTGATGCTGCCCACACAAACCATCAGCCAAGGGGCCATTGAAAAGGTGAAGGATGCTA
CCCGGAAGATTGCAAAGGCTTTTGCCATCTCTGGTCCATTCAACGTCCAATTTCTTGTCAAAGG
AAATGATGTCTTGGTGATTGAGTGTAACTTGAGAGCTTCTCGATCCTTCCCCTTTGTTTCCAAG
ACTCTTGGGGTTGACTTCATTGATGTGGCCACCAAGGTGATGATTGGAGAGAATGTTGATGAGA
AACATCTTCCAACATTGGACCATCCCATAATTCCTGCTGACTATGTTGCAATTAAGGCTCCCAT
GTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGA
GAGGTGGCTTGCTTTGGTGAAGGTATTCATACAGCCTTCCTAAAGGCAATGCTTTCCACAGGAT
TTAAGATACCCCAGAAAGGCATCCTGATAGGCATCCAGCAATCATTCCGGCCAAGATTCCTTGG
TGTGGCTGAACAATTACACAATGAAGGTTTCAAGCTGTTTGCCACGGAAGCCACATCAGACTGG
CTCAACGCCAACAATGTCCCTGCCACCCCAGTGGCATGGCCGTCTCAAGAAGGACAGAATCCCA
GCCTCTCTTCCATCAGAAAATTGATTAGAGATGGCAGCATTGACCTAGTGATTAACCTTCCCAA
CAACAACACTAAATTTGTCCATGATAATTATGTGATTCGGAGGACAGCTGTTGATAGTGGAATC
CCTCTCCTCACTAATTTTCAGGTGACCAAACTTTTTGCTGAAGCTGTGCAGAAATCTCGCAAGG
TGGACTCCAAGAGTCTTTTCCACTACAGGCAGTACAGTGCTGGAAAAGCAGCATAGAGATGCAG
ACACCCCAGCCCCATTATTAAATCAACCTGAGCCACATGTTATCTAAAGGAACTGATTCACAAC
TTTCTCAGAGATGAATATTGATAACTAAACTTCATTTCAGTTTACTTTGTTATGCCTTAATATT
CTGTGTCTTTTGCAATTAAATTGTCAGTCACTTCTTCAAAACCTTACAGTCCTTCCTAAGTTAC
TCTTCATGAGATTTCATCCATTTACTAATACTGTATTTTTGGTGGACTAGGCTTGCCTATGTGC
TTATGTGTAGCTTTTTACTTTTTATGGTGCTGATTAATGGTGATCAAGGTAGGAAAAGTTGCTG
TTCTATTTTCTGAACTCTTTCTATACTTTAAGATACTCTATTTTTAAAACACTATCTGCAAACT
CAGGACACTTTAACAGGGCAGAATACTCTAAAAACTTGATAAAATTAAATATAGATTTAATTTA
TGAACCTTCCATCATGATGTTTGTGTATTGCTTCTTTTTGGATCCTCATTCTCACCCATTTGGC
TAATCCAGGAATATTGTTATCCCTTCCCATTATATTGAAGTTGAGAAATGTGACAGAGGCATTT
AGAGTATGGACTTTTCTTTTCTTTTTCTTTTTCTTTTTTTCTTTTTGAGATGGAGTCACACTCT
CCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATTTCCGTCTCCCAAGTTCAAGCGA
TTCTCCTGCTTTAGACTATGGATTTCTTTAAGGAATACTGGTTTGCAGTTTTGTTTTCTGGACT
ATATCAGCAGATGGTAGACAGTGTTTATGTAGATGTGTTGTTGTTTTTATCATTGGATTTTAAC
TTGGCCCGAGTGAAATAATCAGATTTTTGTCATTCACACTCTCCCCCAGTTTTGGAATAACTTG
GAAGTAAGGTTCATTCCCTTAAGACGATGGATTCTGTTGAACTATGGGGTCCCACACTGCACTA
TTAATTCCACCCACTGTAAGGGCAAGGACACCATTCCTTCTACATATAAGAAAAAAGTCTCTCC
CCAAGGGCAGCCTTTGTTACTTTTAAATATTTTCTGTTATTACAAGTGCTCTAATTGTGAACTT
TTAAATAAAATACTATTAAGAGGTAA

hide sequence

RefSeq Acc Id:

NM_001369256 ⟹ NP_001356185

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	210,519,718 - 210,679,107 (+)	NCBI
T2T-CHM13v2.0	2	211,000,473 - 211,159,839 (+)	NCBI

Sequence:

show sequence

AGTTCAAAAGCATCCAGTATGAGGGAGCAGTGAAGTTTGCATTTTCCTGATGAAAATGTTGGAA
GAGCCACAAATCATCAAAATGACGAGGATTTTGACAGCTTTCAAAGTGGTGAGGACACTGAAGA
CTGGTTTTGGCTTTACCAATGTGACTGCACACCAAAAATGGAAATTTTCAAGACCTGGCATCAG
GCTCCTTTCTGTCAAGGCACAGACAGCACACATTGTCCTGGAAGATGGAACTAAGATGAAAGGT
TACTCCTTTGGCCATCCATCCTCTGTTGCTGGTGAAGTGGTTTTTAATACTGGCCTGGGAGGGT
ACCCAGAAGCTATTACTGACCCTGCCTACAAAGGACAGATTCTCACAATGGCCAACCCTATTAT
TGGGAATGGTGGAGCTCCTGATACTACTGCTCTGGATGAACTGGGACTTAGCAAATATTTGGAG
TCTAATGGAATCAAGGTTTCAGGTTTGCTGGTGCTGGATTATAGTAAAGACTACAACCACTGGC
TGGCTACCAAGAGTTTAGGGCAATGGCTACAGGAAGAAAAGGTTCCTGCAATTTATGGAGTGGA
CACAAGAATGCTGACTAAAATAATTCGGGATAAGGGTACCATGCTTGGGAAGATTGAATTTGAA
GGTCAGCCTGTGGATTTTGTGGATCCAAATAAACAGAATTTGATTGCTGAGGTTTCAACCAAGG
ATGTCAAAGTGTACGGCAAAGGAAACCCCACAAAAGTGGTAGCTGTAGACTGTGGGATTAAAAA
CAATGTAATCCGCCTGCTAGTAAAGCGAGGAGCTGAAGTGCACTTAGTTCCCTGGAACCATGAT
TTCACCAAGATGGAGTATGATGGGATTTTGATCGCGGGAGGACCGGGGAACCCAGCTCTTGCAG
AACCACTAATTCAGAATGTCAGAAAGATTTTGGAGAGTGATCGCAAGGAGCCATTGTTTGGAAT
CAGTACAGGAAACTTAATAACAGGATTGGCTGCTGGTGCCAAAACCTACAAGATGTCCATGGCC
AACAGAGGGCAGAATCAGCCTGTTTTGAATATCACAAACAAACAGGCTTTCATTACTGCTCAGA
ATCATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAAACCACTTTTTGTGAATGTCAA
CGATCAAACAAATGAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCA
GAGGTCACCCCGGGGCCAATAGACACTGAGTACCTGTTTGATTCCTTTTTCTCACTGATAAAGA
AAGGAAAAGCTACCACCATTACATCAGTCTTACCGAAGCCAGCACTAGTTGCATCTCGGGTTGA
GGTTTCCAAAGTCCTTATTCTAGGATCAGGAGGTCTGTCCATTGGTCAGGCTGGAGAATTTGAT
TACTCAGGATCTCAAGCTGTAAAAGCCATGAAGGAAGAAAATGTCAAAACTGTTCTGATGAACC
CAAACATTGCATCAGTCCAGACCAATGAGGTGGGCTTAAAGCAAGCGGATACTGTCTACTTTCT
TCCCATCACCCCTCAGTTTGTCACAGAGGTCATCAAGGCAGAACAGCCAGATGGGTTAATTCTG
GGCATGGGTGGCCAGACAGCTCTGAACTGTGGAGTGGAACTATTCAAGAGAGGTGTGCTCAAGG
AATATGGTGTGAAAGTCCTGGGAACTTCAGTTGAGTCCATTATGGCTACGGAAGACAGGCAGCT
GTTTTCAGATAAACTAAATGAGATCAATGAAAAGATTGCTCCAAGTTTTGCAGTGGAATCGATT
GAGGATGCACTGAAGGCAGCAGACACCATTGGCTACCCAGTGATGATCCGTTCCGCCTATGCAC
TGGGTGGGTTAGGCTCAGGCATCTGTCCCAACAGAGAGACTTTGATGGACCTCAGCACAAAGGC
CTTTGCTATGACCAACCAAATTCTGGTGGAGAAGTCAGTGACAGGTTGGAAAGAAATAGAATAT
GAAGTGGTTCGAGATGCTGATGACAATTGTGTCACTGTCTGTAACATGGAAAATGTTGATGCCA
TGGGTGTTCACACAGGTGACTCAGTTGTTGTGGCTCCTGCCCAGACACTCTCCAATGCCGAGTT
TCAGATGTTGAGACGTACTTCAATCAATGTTGTTCGCCACTTGGGCATTGTGGGTGAATGCAAC
ATTCAGTTTGCCCTTCATCCTACCTCAATGGAATACTGCATCATTGAAGTGAATGCCAGACTGT
CCCGAAGCTCTGCTCTGGCCTCAAAAGCCACTGGCTACCCATTGGCATTCATTGCTGCAAAGAT
TGCCCTAGGAATCCCACTTCCAGAAATTAAGAACGTCGTATCCGGGAAGACATCAGCCTGTTTT
GAACCTAGCCTGGATTACATGGTCACCAAGATTCCCCGCTGGGATCTTGACCGTTTTCATGGAA
CATCTAGCCGAATTGGTAGCTCTATGAAAAGTGTAGGAGAGGTCATGGCTATTGGTCGTACCTT
TGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCCCGT
CTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCA
GCACGCGTATCTATGCCATTGCCAAGGCCATTGATGACAACATGTCCCTTGATGAGATTGAGAA
GCTCACATACATTGACAAGTGGTTTTTGTATAAGATGCGTGATATTTTAAACATGGAAAAGACA
CTGAAAGGCCTCAACAGTGAGTCCATGACAGAAGAAACCCTGAAAAGGGCAAAGGAGATTGGGT
TCTCAGATAAGCAGATTTCAAAATGCCTTGGGCTCACTGAGGCCCAGACAAGGGAGCTGAGGTT
AAAGAAAAACATCCACCCTTGGGTTAAACAGATTGATACACTGGCTGCAGAATACCCATCAGTA
ACAAACTATCTCTATGTTACCTACAATGGTCAGGAGCATGATGTCAATTTTGATGACCATGGAA
TGATGGTGCTAGGCTGTGGTCCATATCACATTGGCAGCAGTGTGGAATTTGATTGGTGTGCTGT
CTCTAGTATCCGCACACTGCGTCAACTTGGCAAGAAGACGGTGGTGGTGAATTGCAATCCTGAG
ACTGTGAGCACAGACTTTGATGAGTGTGACAAACTGTACTTTGAAGAGTTGTCCTTGGAGAGAA
TCCTAGACATCTACCATCAGGAGGCATGTGGTGGCTGCATCATATCAGTTGGAGGCCAGATTCC
AAACAACCTGGCAGTTCCTCTATACAAGAATGGTGTCAAGATCATGGGCACAAGCCCCCTGCAG
ATCGACAGGGCTGAGGATCGCTCCATCTTCTCAGCTGTCTTGGATGAGCTGAAGGTGGCTCAGG
CACCTTGGAAAGCTGTTAATACTTTGAATGAAGCACTGGAATTTGCAAAGTCTGTGGACTACCC
CTGCTTGTTGAGGCCTTCCTATGTTTTGAGTGGGTCTGCTATGAATGTGGTATTCTCTGAGGAT
GAGATGAAAAAATTCCTAGAAGAGGCGACTAGAGTTTCTCAGGAGCACCCAGTGGTGCTGACAA
AATTTGTTGAAGGGGCCCGAGAAGTAGAAATGGACGCTGTTGGCAAAGATGGAAGGGTTATCTC
TCATGCCATCTCTGAACATGTTGAAGATGCAGGTGTCCACTCGGGAGATGCCACTCTGATGCTG
CCCACACAAACCATCAGCCAAGGGGCCATTGAAAAGGTGAAGGATGCTACCCGGAAGATTGCAA
AGGCTTTTGCCATCTCTGGTCCATTCAACGTCCAATTTCTTGTCAAAGGAAATGATGTCTTGGT
GATTGAGTGTAACTTGAGAGCTTCTCGATCCTTCCCCTTTGTTTCCAAGACTCTTGGGGTTGAC
TTCATTGATGTGGCCACCAAGGTGATGATTGGAGAGAATGTTGATGAGAAACATCTTCCAACAT
TGGACCATCCCATAATTCCTGCTGACTATGTTGCAATTAAGGCTCCCATGTTTTCCTGGCCCCG
GTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTGGCTTGCTTT
GGTGAAGGTATTCATACAGCCTTCCTAAAGGCAATGCTTTCCACAGGATTTAAGATACCCCAGA
AAGGCATCCTGATAGGCATCCAGCAATCATTCCGGCCAAGATTCCTTGGTGTGGCTGAACAATT
ACACAATGAAGGTTTCAAGCTGTTTGCCACGGAAGCCACATCAGACTGGCTCAACGCCAACAAT
GTCCCTGCCACCCCAGTGGCATGGCCGTCTCAAGAAGGACAGAATCCCAGCCTCTCTTCCATCA
GAAAATTGATTAGAGATGGCAGCATTGACCTAGTGATTAACCTTCCCAACAACAACACTAAATT
TGTCCATGATAATTATGTGATTCGGAGGACAGCTGTTGATAGTGGAATCCCTCTCCTCACTAAT
TTTCAGGTGACCAAACTTTTTGCTGAAGCTGTGCAGAAATCTCGCAAGGTGGACTCCAAGAGTC
TTTTCCACTACAGGCAGTACAGTGCTGGAAAAGCAGCATAGAGATGCAGACACCCCAGCCCCAT
TATTAAATCAACCTGAGCCACATGTTATCTAAAGGAACTGATTCACAACTTTCTCAGAGATGAA
TATTGATAACTAAACTTCATTTCAGTTTACTTTGTTATGCCTTAATATTCTGTGTCTTTTGCAA
TTAAATTGTCAGTCACTTCTTCAAAACCTTACAGTCCTTCCTAAGTTACTCTTCATGAGATTTC
ATCCATTTACTAATACTGTATTTTTGGTGGACTAGGCTTGCCTATGTGCTTATGTGTAGCTTTT
TACTTTTTATGGTGCTGATTAATGGTGATCAAGGTAGGAAAAGTTGCTGTTCTATTTTCTGAAC
TCTTTCTATACTTTAAGATACTCTATTTTTAAAACACTATCTGCAAACTCAGGACACTTTAACA
GGGCAGAATACTCTAAAAACTTGATAAAATTAAATATAGATTTAATTTATGAACCTTCCATCAT
GATGTTTGTGTATTGCTTCTTTTTGGATCCTCATTCTCACCCATTTGGCTAATCCAGGAATATT
GTTATCCCTTCCCATTATATTGAAGTTGAGAAATGTGACAGAGGCATTTAGAGTATGGACTTTT
CTTTTCTTTTTCTTTTTCTTTTTTTCTTTTTGAGATGGAGTCACACTCTCCAGGCTGGAGTGCA
GTGGCACAATCTCGGCTCACTGCAATTTCCGTCTCCCAAGTTCAAGCGATTCTCCTGCTTTAGA
CTATGGATTTCTTTAAGGAATACTGGTTTGCAGTTTTGTTTTCTGGACTATATCAGCAGATGGT
AGACAGTGTTTATGTAGATGTGTTGTTGTTTTTATCATTGGATTTTAACTTGGCCCGAGTGAAA
TAATCAGATTTTTGTCATTCACACTCTCCCCCAGTTTTGGAATAACTTGGAAGTAAGGTTCATT
CCCTTAAGACGATGGATTCTGTTGAACTATGGGGTCCCACACTGCACTATTAATTCCACCCACT
GTAAGGGCAAGGACACCATTCCTTCTACATATAAGAAAAAAGTCTCTCCCCAAGGGCAGCCTTT
GTTACTTTTAAATATTTTCTGTTATTACAAGTGCTCTAATTGTGAACTTTTAAATAAAATACTA
TTAAGAGGTAA

hide sequence

RefSeq Acc Id:

NM_001369257 ⟹ NP_001356186

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	210,477,685 - 210,679,107 (+)	NCBI
T2T-CHM13v2.0	2	210,958,482 - 211,159,839 (+)	NCBI

Sequence:

show sequence

CTTTTAAAATAGTTGCTTTCTTAGGAAATGTAGTTGCTTTCTTAACCTCATCAAATTCATGAAG
ATTTAGCCGAGGCCCATGCTACCCATTATCTTCTAAATGGCCTTCAGAAATGATGGAGAAACTG
ACACGTTATGAGTATTTCCTGCCCTACATGGATTTTGAACTTGAATTCCCAGCCTCGCTTGCAT
CTAGACACAGCCACAAATCATCAAAATGACGAGGATTTTGACAGCTTTCAAAGTGGTGAGGACA
CTGAAGACTGGTTTTGGCTTTACCAATGTGACTGCACACCAAAAATGGAAATTTTCAAGACCTG
GCATCAGGCTCCTTTCTGTCAAGGCACAGACAGCACACATTGTCCTGGAAGATGGAACTAAGAT
GAAAGGTTACTCCTTTGGCCATCCATCCTCTGTTGCTGGTGAAGTGGTTTTTAATACTGGCCTG
GGAGGGTACCCAGAAGCTATTACTGACCCTGCCTACAAAGGACAGATTCTCACAATGGCCAACC
CTATTATTGGGAATGGTGGAGCTCCTGATACTACTGCTCTGGATGAACTGGGACTTAGCAAATA
TTTGGAGTCTAATGGAATCAAGGTTTCAGGTTTGCTGGTGCTGGATTATAGTAAAGACTACAAC
CACTGGCTGGCTACCAAGAGTTTAGGGCAATGGCTACAGGAAGAAAAGGTTCCTGCAATTTATG
GAGTGGACACAAGAATGCTGACTAAAATAATTCGGGATAAGGGTACCATGCTTGGGAAGATTGA
ATTTGAAGGTCAGCCTGTGGATTTTGTGGATCCAAATAAACAGAATTTGATTGCTGAGGTTTCA
ACCAAGGATGTCAAAGTGTACGGCAAAGGAAACCCCACAAAAGTGGTAGCTGTAGACTGTGGGA
TTAAAAACAATGTAATCCGCCTGCTAGTAAAGCGAGGAGCTGAAGTGCACTTAGTTCCCTGGAA
CCATGATTTCACCAAGATGGAGTATGATGGGATTTTGATCGCGGGAGGACCGGGGAACCCAGCT
CTTGCAGAACCACTAATTCAGAATGTCAGAAAGATTTTGGAGAGTGATCGCAAGGAGCCATTGT
TTGGAATCAGTACAGGAAACTTAATAACAGGATTGGCTGCTGGTGCCAAAACCTACAAGATGTC
CATGGCCAACAGAGGGCAGAATCAGCCTGTTTTGAATATCACAAACAAACAGGCTTTCATTACT
GCTCAGAATCATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAAACCACTTTTTGTGA
ATGTCAACGATCAAACAAATGAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTT
CCACCCAGAGGTCACCCCGGGGCCAATAGACACTGAGTACCTGTTTGATTCCTTTTTCTCACTG
ATAAAGAAAGGAAAAGCTACCACCATTACATCAGTCTTACCGAAGCCAGCACTAGTTGCATCTC
GGGTTGAGGTTTCCAAAGTCCTTATTCTAGGATCAGGAGGTCTGTCCATTGGTCAGGCTGGAGA
ATTTGATTACTCAGGATCTCAAGCTGTAAAAGCCATGAAGGAAGAAAATGTCAAAACTGTTCTG
ATGAACCCAAACATTGCATCAGTCCAGACCAATGAGGTGGGCTTAAAGCAAGCGGATACTGTCT
ACTTTCTTCCCATCACCCCTCAGTTTGTCACAGAGGTCATCAAGGCAGAACAGCCAGATGGGTT
AATTCTGGGCATGGGTGGCCAGACAGCTCTGAACTGTGGAGTGGAACTATTCAAGAGAGGTGTG
CTCAAGGAATATGGTGTGAAAGTCCTGGGAACTTCAGTTGAGTCCATTATGGCTACGGAAGACA
GGCAGCTGTTTTCAGATAAACTAAATGAGATCAATGAAAAGATTGCTCCAAGTTTTGCAGTGGA
ATCGATTGAGGATGCACTGAAGGCAGCAGACACCATTGGCTACCCAGTGATGATCCGTTCCGCC
TATGCACTGGGTGGGTTAGGCTCAGGCATCTGTCCCAACAGAGAGACTTTGATGGACCTCAGCA
CAAAGGCCTTTGCTATGACCAACCAAATTCTGGTGGAGAAGTCAGTGACAGGTTGGAAAGAAAT
AGAATATGAAGTGGTTCGAGATGCTGATGACAATTGTGTCACTGTCTGTAACATGGAAAATGTT
GATGCCATGGGTGTTCACACAGGTGACTCAGTTGTTGTGGCTCCTGCCCAGACACTCTCCAATG
CCGAGTTTCAGATGTTGAGACGTACTTCAATCAATGTTGTTCGCCACTTGGGCATTGTGGGTGA
ATGCAACATTCAGTTTGCCCTTCATCCTACCTCAATGGAATACTGCATCATTGAAGTGAATGCC
AGACTGTCCCGAAGCTCTGCTCTGGCCTCAAAAGCCACTGGCTACCCATTGGCATTCATTGCTG
CAAAGATTGCCCTAGGAATCCCACTTCCAGAAATTAAGAACGTCGTATCCGGGAAGACATCAGC
CTGTTTTGAACCTAGCCTGGATTACATGGTCACCAAGATTCCCCGCTGGGATCTTGACCGTTTT
CATGGAACATCTAGCCGAATTGGTAGCTCTATGAAAAGTGTAGGAGAGGTCATGGCTATTGGTC
GTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCAC
TCCCCGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAA
CCAAGCAGCACGCGTATCTATGCCATTGCCAAGGCCATTGATGACAACATGTCCCTTGATGAGA
TTGAGAAGCTCACATACATTGACAAGTGGTTTTTGTATAAGATGCGTGATATTTTAAACATGGA
AAAGACACTGAAAGGCCTCAACAGTGAGTCCATGACAGAAGAAACCCTGAAAAGGGCAAAGGAG
ATTGGGTTCTCAGATAAGCAGATTTCAAAATGCCTTGGGCTCACTGAGGCCCAGACAAGGGAGC
TGAGGTTAAAGAAAAACATCCACCCTTGGGTTAAACAGATTGATACACTGGCTGCAGAATACCC
ATCAGTAACAAACTATCTCTATGTTACCTACAATGGTCAGGAGCATGATGTCAATTTTGATGAC
CATGGAATGATGGTGCTAGGCTGTGGTCCATATCACATTGGCAGCAGTGTGGAATTTGATTGGT
GTGCTGTCTCTAGTATCCGCACACTGCGTCAACTTGGCAAGAAGACGGTGGTGGTGAATTGCAA
TCCTGAGACTGTGAGCACAGACTTTGATGAGTGTGACAAACTGTACTTTGAAGAGTTGTCCTTG
GAGAGAATCCTAGACATCTACCATCAGGAGGCATGTGGTGGCTGCATCATATCAGTTGGAGGCC
AGATTCCAAACAACCTGGCAGTTCCTCTATACAAGAATGGTGTCAAGATCATGGGCACAAGCCC
CCTGCAGATCGACAGGGCTGAGGATCGCTCCATCTTCTCAGCTGTCTTGGATGAGCTGAAGGTG
GCTCAGGCACCTTGGAAAGCTGTTAATACTTTGAATGAAGCACTGGAATTTGCAAAGTCTGTGG
ACTACCCCTGCTTGTTGAGGCCTTCCTATGTTTTGAGTGGGTCTGCTATGAATGTGGTATTCTC
TGAGGATGAGATGAAAAAATTCCTAGAAGAGGCGACTAGAGTTTCTCAGGAGCACCCAGTGGTG
CTGACAAAATTTGTTGAAGGGGCCCGAGAAGTAGAAATGGACGCTGTTGGCAAAGATGGAAGGG
TTATCTCTCATGCCATCTCTGAACATGTTGAAGATGCAGGTGTCCACTCGGGAGATGCCACTCT
GATGCTGCCCACACAAACCATCAGCCAAGGGGCCATTGAAAAGGTGAAGGATGCTACCCGGAAG
ATTGCAAAGGCTTTTGCCATCTCTGGTCCATTCAACGTCCAATTTCTTGTCAAAGGAAATGATG
TCTTGGTGATTGAGTGTAACTTGAGAGCTTCTCGATCCTTCCCCTTTGTTTCCAAGACTCTTGG
GGTTGACTTCATTGATGTGGCCACCAAGGTGATGATTGGAGAGAATGTTGATGAGAAACATCTT
CCAACATTGGACCATCCCATAATTCCTGCTGACTATGTTGCAATTAAGGCTCCCATGTTTTCCT
GGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTGGC
TTGCTTTGGTGAAGGTATTCATACAGCCTTCCTAAAGGCAATGCTTTCCACAGGATTTAAGATA
CCCCAGAAAGGCATCCTGATAGGCATCCAGCAATCATTCCGGCCAAGATTCCTTGGTGTGGCTG
AACAATTACACAATGAAGGTTTCAAGCTGTTTGCCACGGAAGCCACATCAGACTGGCTCAACGC
CAACAATGTCCCTGCCACCCCAGTGGCATGGCCGTCTCAAGAAGGACAGAATCCCAGCCTCTCT
TCCATCAGAAAATTGATTAGAGATGGCAGCATTGACCTAGTGATTAACCTTCCCAACAACAACA
CTAAATTTGTCCATGATAATTATGTGATTCGGAGGACAGCTGTTGATAGTGGAATCCCTCTCCT
CACTAATTTTCAGGTGACCAAACTTTTTGCTGAAGCTGTGCAGAAATCTCGCAAGGTGGACTCC
AAGAGTCTTTTCCACTACAGGCAGTACAGTGCTGGAAAAGCAGCATAGAGATGCAGACACCCCA
GCCCCATTATTAAATCAACCTGAGCCACATGTTATCTAAAGGAACTGATTCACAACTTTCTCAG
AGATGAATATTGATAACTAAACTTCATTTCAGTTTACTTTGTTATGCCTTAATATTCTGTGTCT
TTTGCAATTAAATTGTCAGTCACTTCTTCAAAACCTTACAGTCCTTCCTAAGTTACTCTTCATG
AGATTTCATCCATTTACTAATACTGTATTTTTGGTGGACTAGGCTTGCCTATGTGCTTATGTGT
AGCTTTTTACTTTTTATGGTGCTGATTAATGGTGATCAAGGTAGGAAAAGTTGCTGTTCTATTT
TCTGAACTCTTTCTATACTTTAAGATACTCTATTTTTAAAACACTATCTGCAAACTCAGGACAC
TTTAACAGGGCAGAATACTCTAAAAACTTGATAAAATTAAATATAGATTTAATTTATGAACCTT
CCATCATGATGTTTGTGTATTGCTTCTTTTTGGATCCTCATTCTCACCCATTTGGCTAATCCAG
GAATATTGTTATCCCTTCCCATTATATTGAAGTTGAGAAATGTGACAGAGGCATTTAGAGTATG
GACTTTTCTTTTCTTTTTCTTTTTCTTTTTTTCTTTTTGAGATGGAGTCACACTCTCCAGGCTG
GAGTGCAGTGGCACAATCTCGGCTCACTGCAATTTCCGTCTCCCAAGTTCAAGCGATTCTCCTG
CTTTAGACTATGGATTTCTTTAAGGAATACTGGTTTGCAGTTTTGTTTTCTGGACTATATCAGC
AGATGGTAGACAGTGTTTATGTAGATGTGTTGTTGTTTTTATCATTGGATTTTAACTTGGCCCG
AGTGAAATAATCAGATTTTTGTCATTCACACTCTCCCCCAGTTTTGGAATAACTTGGAAGTAAG
GTTCATTCCCTTAAGACGATGGATTCTGTTGAACTATGGGGTCCCACACTGCACTATTAATTCC
ACCCACTGTAAGGGCAAGGACACCATTCCTTCTACATATAAGAAAAAAGTCTCTCCCCAAGGGC
AGCCTTTGTTACTTTTAAATATTTTCTGTTATTACAAGTGCTCTAATTGTGAACTTTTAAATAA
AATACTATTAAGAGGTAA

hide sequence

RefSeq Acc Id:

NM_001875 ⟹ NP_001866

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	210,556,599 - 210,679,107 (+)	NCBI
GRCh37	2	211,342,406 - 211,543,831 (+)	ENTREZGENE
Build 36	2	211,129,583 - 211,252,076 (+)	NCBI Archive
HuRef	2	203,188,451 - 203,390,097 (+)	ENTREZGENE
CHM1_1	2	211,427,356 - 211,549,854 (+)	NCBI
T2T-CHM13v2.0	2	211,037,364 - 211,159,839 (+)	NCBI

Sequence:

show sequence

AAAGATCGCTGTGCAGTCAGCCTTAAACACTGACTGCACCCCTCCCAGATTTCTTTTACATTAA
CTAAAAAGTCTTATCACACAATCTCATAAAATTTATGTAATTTCATTTAATTTTAGCCACAAAT
CATCAAAATGACGAGGATTTTGACAGCTTTCAAAGTGGTGAGGACACTGAAGACTGGTTTTGGC
TTTACCAATGTGACTGCACACCAAAAATGGAAATTTTCAAGACCTGGCATCAGGCTCCTTTCTG
TCAAGGCACAGACAGCACACATTGTCCTGGAAGATGGAACTAAGATGAAAGGTTACTCCTTTGG
CCATCCATCCTCTGTTGCTGGTGAAGTGGTTTTTAATACTGGCCTGGGAGGGTACCCAGAAGCT
ATTACTGACCCTGCCTACAAAGGACAGATTCTCACAATGGCCAACCCTATTATTGGGAATGGTG
GAGCTCCTGATACTACTGCTCTGGATGAACTGGGACTTAGCAAATATTTGGAGTCTAATGGAAT
CAAGGTTTCAGGTTTGCTGGTGCTGGATTATAGTAAAGACTACAACCACTGGCTGGCTACCAAG
AGTTTAGGGCAATGGCTACAGGAAGAAAAGGTTCCTGCAATTTATGGAGTGGACACAAGAATGC
TGACTAAAATAATTCGGGATAAGGGTACCATGCTTGGGAAGATTGAATTTGAAGGTCAGCCTGT
GGATTTTGTGGATCCAAATAAACAGAATTTGATTGCTGAGGTTTCAACCAAGGATGTCAAAGTG
TACGGCAAAGGAAACCCCACAAAAGTGGTAGCTGTAGACTGTGGGATTAAAAACAATGTAATCC
GCCTGCTAGTAAAGCGAGGAGCTGAAGTGCACTTAGTTCCCTGGAACCATGATTTCACCAAGAT
GGAGTATGATGGGATTTTGATCGCGGGAGGACCGGGGAACCCAGCTCTTGCAGAACCACTAATT
CAGAATGTCAGAAAGATTTTGGAGAGTGATCGCAAGGAGCCATTGTTTGGAATCAGTACAGGAA
ACTTAATAACAGGATTGGCTGCTGGTGCCAAAACCTACAAGATGTCCATGGCCAACAGAGGGCA
GAATCAGCCTGTTTTGAATATCACAAACAAACAGGCTTTCATTACTGCTCAGAATCATGGCTAT
GCCTTGGACAACACCCTCCCTGCTGGCTGGAAACCACTTTTTGTGAATGTCAACGATCAAACAA
ATGAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTCACCCC
GGGGCCAATAGACACTGAGTACCTGTTTGATTCCTTTTTCTCACTGATAAAGAAAGGAAAAGCT
ACCACCATTACATCAGTCTTACCGAAGCCAGCACTAGTTGCATCTCGGGTTGAGGTTTCCAAAG
TCCTTATTCTAGGATCAGGAGGTCTGTCCATTGGTCAGGCTGGAGAATTTGATTACTCAGGATC
TCAAGCTGTAAAAGCCATGAAGGAAGAAAATGTCAAAACTGTTCTGATGAACCCAAACATTGCA
TCAGTCCAGACCAATGAGGTGGGCTTAAAGCAAGCGGATACTGTCTACTTTCTTCCCATCACCC
CTCAGTTTGTCACAGAGGTCATCAAGGCAGAACAGCCAGATGGGTTAATTCTGGGCATGGGTGG
CCAGACAGCTCTGAACTGTGGAGTGGAACTATTCAAGAGAGGTGTGCTCAAGGAATATGGTGTG
AAAGTCCTGGGAACTTCAGTTGAGTCCATTATGGCTACGGAAGACAGGCAGCTGTTTTCAGATA
AACTAAATGAGATCAATGAAAAGATTGCTCCAAGTTTTGCAGTGGAATCGATTGAGGATGCACT
GAAGGCAGCAGACACCATTGGCTACCCAGTGATGATCCGTTCCGCCTATGCACTGGGTGGGTTA
GGCTCAGGCATCTGTCCCAACAGAGAGACTTTGATGGACCTCAGCACAAAGGCCTTTGCTATGA
CCAACCAAATTCTGGTGGAGAAGTCAGTGACAGGTTGGAAAGAAATAGAATATGAAGTGGTTCG
AGATGCTGATGACAATTGTGTCACTGTCTGTAACATGGAAAATGTTGATGCCATGGGTGTTCAC
ACAGGTGACTCAGTTGTTGTGGCTCCTGCCCAGACACTCTCCAATGCCGAGTTTCAGATGTTGA
GACGTACTTCAATCAATGTTGTTCGCCACTTGGGCATTGTGGGTGAATGCAACATTCAGTTTGC
CCTTCATCCTACCTCAATGGAATACTGCATCATTGAAGTGAATGCCAGACTGTCCCGAAGCTCT
GCTCTGGCCTCAAAAGCCACTGGCTACCCATTGGCATTCATTGCTGCAAAGATTGCCCTAGGAA
TCCCACTTCCAGAAATTAAGAACGTCGTATCCGGGAAGACATCAGCCTGTTTTGAACCTAGCCT
GGATTACATGGTCACCAAGATTCCCCGCTGGGATCTTGACCGTTTTCATGGAACATCTAGCCGA
ATTGGTAGCTCTATGAAAAGTGTAGGAGAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTT
TCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCCCGTCTCCCAATGAA
CAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATC
TATGCCATTGCCAAGGCCATTGATGACAACATGTCCCTTGATGAGATTGAGAAGCTCACATACA
TTGACAAGTGGTTTTTGTATAAGATGCGTGATATTTTAAACATGGAAAAGACACTGAAAGGCCT
CAACAGTGAGTCCATGACAGAAGAAACCCTGAAAAGGGCAAAGGAGATTGGGTTCTCAGATAAG
CAGATTTCAAAATGCCTTGGGCTCACTGAGGCCCAGACAAGGGAGCTGAGGTTAAAGAAAAACA
TCCACCCTTGGGTTAAACAGATTGATACACTGGCTGCAGAATACCCATCAGTAACAAACTATCT
CTATGTTACCTACAATGGTCAGGAGCATGATGTCAATTTTGATGACCATGGAATGATGGTGCTA
GGCTGTGGTCCATATCACATTGGCAGCAGTGTGGAATTTGATTGGTGTGCTGTCTCTAGTATCC
GCACACTGCGTCAACTTGGCAAGAAGACGGTGGTGGTGAATTGCAATCCTGAGACTGTGAGCAC
AGACTTTGATGAGTGTGACAAACTGTACTTTGAAGAGTTGTCCTTGGAGAGAATCCTAGACATC
TACCATCAGGAGGCATGTGGTGGCTGCATCATATCAGTTGGAGGCCAGATTCCAAACAACCTGG
CAGTTCCTCTATACAAGAATGGTGTCAAGATCATGGGCACAAGCCCCCTGCAGATCGACAGGGC
TGAGGATCGCTCCATCTTCTCAGCTGTCTTGGATGAGCTGAAGGTGGCTCAGGCACCTTGGAAA
GCTGTTAATACTTTGAATGAAGCACTGGAATTTGCAAAGTCTGTGGACTACCCCTGCTTGTTGA
GGCCTTCCTATGTTTTGAGTGGGTCTGCTATGAATGTGGTATTCTCTGAGGATGAGATGAAAAA
ATTCCTAGAAGAGGCGACTAGAGTTTCTCAGGAGCACCCAGTGGTGCTGACAAAATTTGTTGAA
GGGGCCCGAGAAGTAGAAATGGACGCTGTTGGCAAAGATGGAAGGGTTATCTCTCATGCCATCT
CTGAACATGTTGAAGATGCAGGTGTCCACTCGGGAGATGCCACTCTGATGCTGCCCACACAAAC
CATCAGCCAAGGGGCCATTGAAAAGGTGAAGGATGCTACCCGGAAGATTGCAAAGGCTTTTGCC
ATCTCTGGTCCATTCAACGTCCAATTTCTTGTCAAAGGAAATGATGTCTTGGTGATTGAGTGTA
ACTTGAGAGCTTCTCGATCCTTCCCCTTTGTTTCCAAGACTCTTGGGGTTGACTTCATTGATGT
GGCCACCAAGGTGATGATTGGAGAGAATGTTGATGAGAAACATCTTCCAACATTGGACCATCCC
ATAATTCCTGCTGACTATGTTGCAATTAAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATG
CTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTGGCTTGCTTTGGTGAAGGTAT
TCATACAGCCTTCCTAAAGGCAATGCTTTCCACAGGATTTAAGATACCCCAGAAAGGCATCCTG
ATAGGCATCCAGCAATCATTCCGGCCAAGATTCCTTGGTGTGGCTGAACAATTACACAATGAAG
GTTTCAAGCTGTTTGCCACGGAAGCCACATCAGACTGGCTCAACGCCAACAATGTCCCTGCCAC
CCCAGTGGCATGGCCGTCTCAAGAAGGACAGAATCCCAGCCTCTCTTCCATCAGAAAATTGATT
AGAGATGGCAGCATTGACCTAGTGATTAACCTTCCCAACAACAACACTAAATTTGTCCATGATA
ATTATGTGATTCGGAGGACAGCTGTTGATAGTGGAATCCCTCTCCTCACTAATTTTCAGGTGAC
CAAACTTTTTGCTGAAGCTGTGCAGAAATCTCGCAAGGTGGACTCCAAGAGTCTTTTCCACTAC
AGGCAGTACAGTGCTGGAAAAGCAGCATAGAGATGCAGACACCCCAGCCCCATTATTAAATCAA
CCTGAGCCACATGTTATCTAAAGGAACTGATTCACAACTTTCTCAGAGATGAATATTGATAACT
AAACTTCATTTCAGTTTACTTTGTTATGCCTTAATATTCTGTGTCTTTTGCAATTAAATTGTCA
GTCACTTCTTCAAAACCTTACAGTCCTTCCTAAGTTACTCTTCATGAGATTTCATCCATTTACT
AATACTGTATTTTTGGTGGACTAGGCTTGCCTATGTGCTTATGTGTAGCTTTTTACTTTTTATG
GTGCTGATTAATGGTGATCAAGGTAGGAAAAGTTGCTGTTCTATTTTCTGAACTCTTTCTATAC
TTTAAGATACTCTATTTTTAAAACACTATCTGCAAACTCAGGACACTTTAACAGGGCAGAATAC
TCTAAAAACTTGATAAAATTAAATATAGATTTAATTTATGAACCTTCCATCATGATGTTTGTGT
ATTGCTTCTTTTTGGATCCTCATTCTCACCCATTTGGCTAATCCAGGAATATTGTTATCCCTTC
CCATTATATTGAAGTTGAGAAATGTGACAGAGGCATTTAGAGTATGGACTTTTCTTTTCTTTTT
CTTTTTCTTTTTTTCTTTTTGAGATGGAGTCACACTCTCCAGGCTGGAGTGCAGTGGCACAATC
TCGGCTCACTGCAATTTCCGTCTCCCAAGTTCAAGCGATTCTCCTGCTTTAGACTATGGATTTC
TTTAAGGAATACTGGTTTGCAGTTTTGTTTTCTGGACTATATCAGCAGATGGTAGACAGTGTTT
ATGTAGATGTGTTGTTGTTTTTATCATTGGATTTTAACTTGGCCCGAGTGAAATAATCAGATTT
TTGTCATTCACACTCTCCCCCAGTTTTGGAATAACTTGGAAGTAAGGTTCATTCCCTTAAGACG
ATGGATTCTGTTGAACTATGGGGTCCCACACTGCACTATTAATTCCACCCACTGTAAGGGCAAG
GACACCATTCCTTCTACATATAAGAAAAAAGTCTCTCCCCAAGGGCAGCCTTTGTTACTTTTAA
ATATTTTCTGTTATTACAAGTGCTCTAATTGTGAACTTTTAAATAAAATACTATTAAGAGGTAA

hide sequence

RefSeq Acc Id:

NR_161225

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	210,549,125 - 210,679,107 (+)	NCBI
T2T-CHM13v2.0	2	211,029,885 - 211,159,839 (+)	NCBI

Sequence:

show sequence

TATGTTTAATTTAAAGAGGGTCCAGTAGTGTCCTGGCACATGATCTGGATTGCCATAGATAACC
ATCTACCTCACAGCTAGGGTTGCTCTTTAGAATCTTGCAAAATCATTTGTTTACTCTTGACAAA
AGTTAAGAAAACAAGCCCATCAGAGTTGTTTGTTCTGTCAGCATGTTAGAAGATGGTTTTGTTG
CAATGATAATCGTTGTGCAAAGAAGACTGATGATGATTTTTTTTTACATTTTCTTAACAGTATT
TGCTATTTAGAATGAATGTTGTCTAATTATTTAGCCATTTTATTTTGTAAAATTTATGTTGTAG
GCATATTTAGACCAAGTTATAAGAAAATGCTTCAGCCAAAATTAAGTGTTGAGTTTGATTTGTG
TAATTGTTAGTTTCTTTACTAGTTGTTCCATCATTTACACAATTATTTCTATTTGAAATGCAGT
AATTGTTCAGAACTTATATTTCTATACTGATGTCTACTAACAGCTTTAGATCAAATATTAAATA
ACTCAAGAATAATGAGATGATCTTGGCTTACTTAGATATTTGGTTTTTATATCTATAGAACAAA
GGAATTAGAAAATAATTTTGAAGATTTCATCCAGCTATGTAAAACTATCTAGGGAATACATTTA
CTAGGTTTTCAATTTTCTACAAAACATCTTTCAGCAGAAAGCAATCCTGTTTCCTGATATACAA
TGTCTGATACATAGAAACTACTCAGTACATAATTCCTGAATTGATTATTCTTTTGGAAATCCTA
GATTTGATTTCTGAACAATCATAAACATTTAATGGCATGAAATTACCCAGATTCCATGGTTCTG
GAATACATAACTTCAAGCAATAAGATGCAAGATAGAAACATATAAGACATTCTTTGCTATTTTA
GCCACAAATCATCAAAATGACGAGGATTTTGACAGCTTTCAAAGTGGTGAGGACACTGAAGACT
GGTTTTGGCTTTACCAATGTGACTGCACACCAAAAATGGAAATTTTCAAGACCTGGCATCAGGC
TCCTTTCTGTCAAGGCACAGACAGCACACATTGTCCTGGAAGATGGAACTAAGATGAAAGGTTA
CTCCTTTGGCCATCCATCCTCTGTTGCTGGTGAAGTGGTTTTTAATACTGGCCTGGGAGGGTAC
CCAGAAGCTATTACTGACCCTGCCTACAAAGGACAGATTCTCACAATGGCCAACCCTATTATTG
GGAATGGTGGAGCTCCTGATACTACTGCTCTGGATGAACTGGGACTTAGCAAATATTTGGAGTC
TAATGGAATCAAGGTTTCAGGTTTGCTGGTGCTGGATTATAGTAAAGACTACAACCACTGGCTG
GCTACCAAGAGTTTAGGGCAATGGCTACAGGAAGAAAAGGTTCCTGCAATTTATGGAGTGGACA
CAAGAATGCTGACTAAAATAATTCGGGATAAGGGTACCATGCTTGGGAAGATTGAATTTGAAGG
TCAGCCTGTGGATTTTGTGGATCCAAATAAACAGAATTTGATTGCTGAGGTTTCAACCAAGGAT
GTCAAAGTGTACGGCAAAGGAAACCCCACAAAAGTGGTAGCTGTAGACTGTGGGATTAAAAACA
ATGTAATCCGCCTGCTAGTAAAGCGAGGAGCTGAAGTGCACTTAGTTCCCTGGAACCATGATTT
CACCAAGATGGAGTATGATGGGATTTTGATCGCGGGAGGACCGGGGAACCCAGCTCTTGCAGAA
CCACTAATTCAGAATGTCAGAAAGATTTTGGAGAGTGATCGCAAGGAGCCATTGTTTGGAATCA
GTACAGGAAACTTAATAACAGGATTGGCTGCTGGTGCCAAAACCTACAAGATGTCCATGGCCAA
CAGAGGGCAGAATCAGCCTGTTTTGAATATCACAAACAAACAGGCTTTCATTACTGCTCAGAAT
CATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAAACCACTTTTTGTGAATGTCAACG
ATCAAACAAATGAGGGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGA
GGTCACCCCGGGGCCAATAGACACTGAGTACCTGTTTGATTCCTTTTTCTCACTGATAAAGAAA
GGAAAAGCTACCACCATTACATCAGTCTTACCGAAGCCAGCACTAGTTGCATCTCGGGTTGAGG
TTTCCAAAGTCCTTATTCTAGGATCAGGAGGTCTGTCCATTGGTCAGGCTGGAGAATTTGATTA
CTCAGGATCTCAAGCTGTAAAAGCCATGAAGGAAGAAAATGTCAAAACTGTTCTGATGAACCCA
AACATTGCATCAGTCCAGACCAATGAGGTGGGCTTAAAGCAAGCGGATACTGTCTACTTTCTTC
CCATCACCCCTCAGTTTGTCACAGAGGTCATCAAGGCAGAACAGCCAGATGGGTTAATTCTGGG
CATGGGTGGCCAGACAGCTCTGAACTGAGTGGAACTATTCAAGAGAGGTGTGCTCAAGGAATAT
GGTGTGAAAGTCCTGGGAACTTCAGTTGAGTCCATTATGGCTACGGAAGACAGGCAGCTGTTTT
CAGATAAACTAAATGAGATCAATGAAAAGATTGCTCCAAGTTTTGCAGTGGAATCGATTGAGGA
TGCACTGAAGGCAGCAGACACCATTGGCTACCCAGTGATGATCCGTTCCGCCTATGCACTGGGT
GGGTTAGGCTCAGGCATCTGTCCCAACAGAGAGACTTTGATGGACCTCAGCACAAAGGCCTTTG
CTATGACCAACCAAATTCTGGTGGAGAAGTCAGTGACAGGTTGGAAAGAAATAGAATATGAAGT
GGTTCGAGATGCTGATGACAATTGTGTCACTGTCTGTAACATGGAAAATGTTGATGCCATGGGT
GTTCACACAGGTGACTCAGTTGTTGTGGCTCCTGCCCAGACACTCTCCAATGCCGAGTTTCAGA
TGTTGAGACGTACTTCAATCAATGTTGTTCGCCACTTGGGCATTGTGGGTGAATGCAACATTCA
GTTTGCCCTTCATCCTACCTCAATGGAATACTGCATCATTGAAGTGAATGCCAGACTGTCCCGA
AGCTCTGCTCTGGCCTCAAAAGCCACTGGCTACCCATTGGCATTCATTGCTGCAAAGATTGCCC
TAGGAATCCCACTTCCAGAAATTAAGAACGTCGTATCCGGGAAGACATCAGCCTGTTTTGAACC
TAGCCTGGATTACATGGTCACCAAGATTCCCCGCTGGGATCTTGACCGTTTTCATGGAACATCT
AGCCGAATTGGTAGCTCTATGAAAAGTGTAGGAGAGGTCATGGCTATTGGTCGTACCTTTGAGG
AGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATAGAAGGTTTCACTCCCCGTCTCCC
AATGAACAAAGAATGGCCATCTAATTTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACG
CGTATCTATGCCATTGCCAAGGCCATTGATGACAACATGTCCCTTGATGAGATTGAGAAGCTCA
CATACATTGACAAGTGGTTTTTGTATAAGATGCGTGATATTTTAAACATGGAAAAGACACTGAA
AGGCCTCAACAGTGAGTCCATGACAGAAGAAACCCTGAAAAGGGCAAAGGAGATTGGGTTCTCA
GATAAGCAGATTTCAAAATGCCTTGGGCTCACTGAGGCCCAGACAAGGGAGCTGAGGTTAAAGA
AAAACATCCACCCTTGGGTTAAACAGATTGATACACTGGCTGCAGAATACCCATCAGTAACAAA
CTATCTCTATGTTACCTACAATGGTCAGGAGCATGATGTCAATTTTGATGACCATGGAATGATG
GTGCTAGGCTGTGGTCCATATCACATTGGCAGCAGTGTGGAATTTGATTGGTGTGCTGTCTCTA
GTATCCGCACACTGCGTCAACTTGGCAAGAAGACGGTGGTGGTGAATTGCAATCCTGAGACTGT
GAGCACAGACTTTGATGAGTGTGACAAACTGTACTTTGAAGAGTTGTCCTTGGAGAGAATCCTA
GACATCTACCATCAGGAGGCATGTGGTGGCTGCATCATATCAGTTGGAGGCCAGATTCCAAACA
ACCTGGCAGTTCCTCTATACAAGAATGGTGTCAAGATCATGGGCACAAGCCCCCTGCAGATCGA
CAGGGCTGAGGATCGCTCCATCTTCTCAGCTGTCTTGGATGAGCTGAAGGTGGCTCAGGCACCT
TGGAAAGCTGTTAATACTTTGAATGAAGCACTGGAATTTGCAAAGTCTGTGGACTACCCCTGCT
TGTTGAGGCCTTCCTATGTTTTGAGTGGGTCTGCTATGAATGTGGTATTCTCTGAGGATGAGAT
GAAAAAATTCCTAGAAGAGGCGACTAGAGTTTCTCAGGAGCACCCAGTGGTGCTGACAAAATTT
GTTGAAGGGGCCCGAGAAGTAGAAATGGACGCTGTTGGCAAAGATGGAAGGGTTATCTCTCATG
CCATCTCTGAACATGTTGAAGATGCAGGTGTCCACTCGGGAGATGCCACTCTGATGCTGCCCAC
ACAAACCATCAGCCAAGGGGCCATTGAAAAGGTGAAGGATGCTACCCGGAAGATTGCAAAGGCT
TTTGCCATCTCTGGTCCATTCAACGTCCAATTTCTTGTCAAAGGAAATGATGTCTTGGTGATTG
AGTGTAACTTGAGAGCTTCTCGATCCTTCCCCTTTGTTTCCAAGACTCTTGGGGTTGACTTCAT
TGATGTGGCCACCAAGGTGATGATTGGAGAGAATGTTGATGAGAAACATCTTCCAACATTGGAC
CATCCCATAATTCCTGCTGACTATGTTGCAATTAAGGCTCCCATGTTTTCCTGGCCCCGGTTGA
GGGATGCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAGGTGGCTTGCTTTGGTGA
AGGTATTCATACAGCCTTCCTAAAGGCAATGCTTTCCACAGGATTTAAGATACCCCAGAAAGGC
ATCCTGATAGGCATCCAGCAATCATTCCGGCCAAGATTCCTTGGTGTGGCTGAACAATTACACA
ATGAAGGTTTCAAGCTGTTTGCCACGGAAGCCACATCAGACTGGCTCAACGCCAACAATGTCCC
TGCCACCCCAGTGGCATGGCCGTCTCAAGAAGGACAGAATCCCAGCCTCTCTTCCATCAGAAAA
TTGATTAGAGATGGCAGCATTGACCTAGTGATTAACCTTCCCAACAACAACACTAAATTTGTCC
ATGATAATTATGTGATTCGGAGGACAGCTGTTGATAGTGGAATCCCTCTCCTCACTAATTTTCA
GGTGACCAAACTTTTTGCTGAAGCTGTGCAGAAATCTCGCAAGGTGGACTCCAAGAGTCTTTTC
CACTACAGGCAGTACAGTGCTGGAAAAGCAGCATAGAGATGCAGACACCCCAGCCCCATTATTA
AATCAACCTGAGCCACATGTTATCTAAAGGAACTGATTCACAACTTTCTCAGAGATGAATATTG
ATAACTAAACTTCATTTCAGTTTACTTTGTTATGCCTTAATATTCTGTGTCTTTTGCAATTAAA
TTGTCAGTCACTTCTTCAAAACCTTACAGTCCTTCCTAAGTTACTCTTCATGAGATTTCATCCA
TTTACTAATACTGTATTTTTGGTGGACTAGGCTTGCCTATGTGCTTATGTGTAGCTTTTTACTT
TTTATGGTGCTGATTAATGGTGATCAAGGTAGGAAAAGTTGCTGTTCTATTTTCTGAACTCTTT
CTATACTTTAAGATACTCTATTTTTAAAACACTATCTGCAAACTCAGGACACTTTAACAGGGCA
GAATACTCTAAAAACTTGATAAAATTAAATATAGATTTAATTTATGAACCTTCCATCATGATGT
TTGTGTATTGCTTCTTTTTGGATCCTCATTCTCACCCATTTGGCTAATCCAGGAATATTGTTAT
CCCTTCCCATTATATTGAAGTTGAGAAATGTGACAGAGGCATTTAGAGTATGGACTTTTCTTTT
CTTTTTCTTTTTCTTTTTTTCTTTTTGAGATGGAGTCACACTCTCCAGGCTGGAGTGCAGTGGC
ACAATCTCGGCTCACTGCAATTTCCGTCTCCCAAGTTCAAGCGATTCTCCTGCTTTAGACTATG
GATTTCTTTAAGGAATACTGGTTTGCAGTTTTGTTTTCTGGACTATATCAGCAGATGGTAGACA
GTGTTTATGTAGATGTGTTGTTGTTTTTATCATTGGATTTTAACTTGGCCCGAGTGAAATAATC
AGATTTTTGTCATTCACACTCTCCCCCAGTTTTGGAATAACTTGGAAGTAAGGTTCATTCCCTT
AAGACGATGGATTCTGTTGAACTATGGGGTCCCACACTGCACTATTAATTCCACCCACTGTAAG
GGCAAGGACACCATTCCTTCTACATATAAGAAAAAAGTCTCTCCCCAAGGGCAGCCTTTGTTAC
TTTTAAATATTTTCTGTTATTACAAGTGCTCTAATTGTGAACTTTTAAATAAAATACTATTAAG
AGGTAA

hide sequence

RefSeq Acc Id:

NR_163592

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	210,593,355 - 210,679,107 (+)	NCBI
T2T-CHM13v2.0	2	211,074,089 - 211,159,839 (+)	NCBI

Sequence:

show sequence

AGCCACTAAGGGAGAATAAACAGCAGCAGGAGAAGGAGGGGAAGGGTGTTGGAGGGGAGAGAGG
GCATGCATGCACATACATAGATGATTCAGACGGCTTCAGAAAAGAACCACAAGGAATGCTTAGA
GGAGTTTTGTATTTAATCTAAATATTTTTACTTTTTTGTGTGTGAGCTCTTAGTTCATTGTTCA
AACCCATCTTTCCAAATAAATTCTTCTGGTGATATCCAGAAAAATCTGAAGTCTATTGTGACTT
CCCCACACCCAGGGGCCTCCAGTAGCAAATCTTCATTGTCAGAACTCTCAGAAAAGACTTCGAG
TACCTGTTTGATTCCTTTTTCTCACTGATAAAGAAAGGAAAAGCTACCACCATTACATCAGTCT
TACCGAAGCCAGCACTAGTTGCATCTCGGGTTGAGGTTTCCAAAGTCCTTATTCTAGGATCAGG
AGGTCTGTCCATTGGTCAGGCTGGAGAATTTGATTACTCAGGATCTCAAGCTGTAAAAGCCATG
AAGGAAGAAAATGTCAAAACTGTTCTGATGAACCCAAACATTGCATCAGTCCAGACCAATGAGG
TGGGCTTAAAGCAAGCGGATACTGTCTACTTTCTTCCCATCACCCCTCAGTTTGTCACAGAGGT
CATCAAGGCAGAACAGCCAGATGGGTTAATTCTGGGCATGGGTGGCCAGACAGCTCTGAACTGT
GGAGTGGAACTATTCAAGAGAGGTGTGCTCAAGGAATATGGTGTGAAAGTCCTGGGAACTTCAG
TTGAGTCCATTATGGCTACGGAAGACAGGCAGCTGTTTTCAGATAAACTAAATGAGATCAATGA
AAAGATTGCTCCAAGTTTTGCAGTGGAATCGATTGAGGATGCACTGAAGGCAGCAGACACCATT
GGCTACCCAGTGATGATCCGTTCCGCCTATGCACTGGGTGGGTTAGGCTCAGGCATCTGTCCCA
ACAGAGAGACTTTGATGGACCTCAGCACAAAGGCCTTTGCTATGACCAACCAAATTCTGGTGGA
GAAGTCAGTGACAGGTTGGAAAGAAATAGAATATGAAGTGGTTCGAGATGCTGATGACAATTGT
GTCACTGTCTGTAACATGGAAAATGTTGATGCCATGGGTGTTCACACAGGTGACTCAGTTGTTG
TGGCTCCTGCCCAGACACTCTCCAATGCCGAGTTTCAGATGTTGAGACGTACTTCAATCAATGT
TGTTCGCCACTTGGGCATTGTGGGTGAATGCAACATTCAGTTTGCCCTTCATCCTACCTCAATG
GAATACTGCATCATTGAAGTGAATGCCAGACTGTCCCGAAGCTCTGCTCTGGCCTCAAAAGCCA
CTGGCTACCCATTGGCATTCATTGCTGCAAAGATTGCCCTAGGAATCCCACTTCCAGAAATTAA
GAACGTCGTATCCGGGAAGACATCAGCCTGTTTTGAACCTAGCCTGGATTACATGGTCACCAAG
ATTCCCCGCTGGGATCTTGACCGTTTTCATGGAACATCTAGCCGAATTGGTAGCTCTATGAAAA
GTGTAGGAGAGGTCATGGCTATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGAT
GTGCCACCCATCTATAGAAGGTTTCACTCCCCGTCTCCCAATGAACAAAGAATGGCCATCTAAT
TTAGATCTTAGAAAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCCAAGGCCA
TTGATGACAACATGTCCCTTGATGAGATTGAGAAGCTCACATACATTGACAAGTGGTTTTTGTA
TAAGATGCGTGATATTTTAAACATGGAAAAGACACTGAAAGGCCTCAACAGTGAGTCCATGACA
GAAGAAACCCTGAAAAGGGCAAAGGAGATTGGGTTCTCAGATAAGCAGATTTCAAAATGCCTTG
GGCTCACTGAGGCCCAGACAAGGGAGCTGAGGTTAAAGAAAAACATCCACCCTTGGGTTAAACA
GATTGATACACTGGCTGCAGAATACCCATCAGTAACAAACTATCTCTATGTTACCTACAATGGT
CAGGAGCATGATGTCAATTTTGATGACCATGGAATGATGGTGCTAGGCTGTGGTCCATATCACA
TTGGCAGCAGTGTGGAATTTGATTGGTGTGCTGTCTCTAGTATCCGCACACTGCGTCAACTTGG
CAAGAAGACGGTGGTGGTGAATTGCAATCCTGAGACTGTGAGCACAGACTTTGATGAGTGTGAC
AAACTGTACTTTGAAGAGTTGTCCTTGGAGAGAATCCTAGACATCTACCATCAGGAGGCATGTG
GTGGCTGCATCATATCAGTTGGAGGCCAGATTCCAAACAACCTGGCAGTTCCTCTATACAAGAA
TGGTGTCAAGATCATGGGCACAAGCCCCCTGCAGATCGACAGGGCTGAGGATCGCTCCATCTTC
TCAGCTGTCTTGGATGAGCTGAAGGTGGCTCAGGCACCTTGGAAAGCTGTTAATACTTTGAATG
AAGCACTGGAATTTGCAAAGTCTGTGGACTACCCCTGCTTGTTGAGGCCTTCCTATGTTTTGAG
TGGGTCTGCTATGAATGTGGTATTCTCTGAGGATGAGATGAAAAAATTCCTAGAAGAGGCGACT
AGAGTTTCTCAGGAGCACCCAGTGGTGCTGACAAAATTTGTTGAAGGGGCCCGAGAAGTAGAAA
TGGACGCTGTTGGCAAAGATGGAAGGGTTATCTCTCATGCCATCTCTGAACATGTTGAAGATGC
AGGTGTCCACTCGGGAGATGCCACTCTGATGCTGCCCACACAAACCATCAGCCAAGGGGCCATT
GAAAAGGTGAAGGATGCTACCCGGAAGATTGCAAAGGCTTTTGCCATCTCTGGTCCATTCAACG
TCCAATTTCTTGTCAAAGGAAATGATGTCTTGGTGATTGAGTGTAACTTGAGAGCTTCTCGATC
CTTCCCCTTTGTTTCCAAGACTCTTGGGGTTGACTTCATTGATGTGGCCACCAAGGTGATGATT
GGAGAGAATGTTGATGAGAAACATCTTCCAACATTGGACCATCCCATAATTCCTGCTGACTATG
TTGCAATTAAGGCTCCCATGTTTTCCTGGCCCCGGTTGAGGGATGCTGACCCCATTCTGAGATG
TGAGATGGCTTCCACTGGAGAGGTGGCTTGCTTTGGTGAAGGTATTCATACAGCCTTCCTAAAG
GCAATGCTTTCCACAGGATTTAAGATACCCCAGAAAGGCATCCTGATAGGCATCCAGCAATCAT
TCCGGCCAAGATTCCTTGGTGTGGCTGAACAATTACACAATGAAGGTTTCAAGCTGTTTGCCAC
GGAAGCCACATCAGACTGGCTCAACGCCAACAATGTCCCTGCCACCCCAGTGGCATGGCCGTCT
CAAGAAGGACAGAATCCCAGCCTCTCTTCCATCAGAAAATTGATTAGAGATGGCAGCATTGACC
TAGTGATTAACCTTCCCAACAACAACACTAAATTTGTCCATGATAATTATGTGATTCGGAGGAC
AGCTGTTGATAGTGGAATCCCTCTCCTCACTAATTTTCAGGTGACCAAACTTTTTGCTGAAGCT
GTGCAGAAATCTCGCAAGGTGGACTCCAAGAGTCTTTTCCACTACAGGCAGTACAGTGCTGGAA
AAGCAGCATAGAGATGCAGACACCCCAGCCCCATTATTAAATCAACCTGAGCCACATGTTATCT
AAAGGAACTGATTCACAACTTTCTCAGAGATGAATATTGATAACTAAACTTCATTTCAGTTTAC
TTTGTTATGCCTTAATATTCTGTGTCTTTTGCAATTAAATTGTCAGTCACTTCTTCAAAACCTT
ACAGTCCTTCCTAAGTTACTCTTCATGAGATTTCATCCATTTACTAATACTGTATTTTTGGTGG
ACTAGGCTTGCCTATGTGCTTATGTGTAGCTTTTTACTTTTTATGGTGCTGATTAATGGTGATC
AAGGTAGGAAAAGTTGCTGTTCTATTTTCTGAACTCTTTCTATACTTTAAGATACTCTATTTTT
AAAACACTATCTGCAAACTCAGGACACTTTAACAGGGCAGAATACTCTAAAAACTTGATAAAAT
TAAATATAGATTTAATTTATGAACCTTCCATCATGATGTTTGTGTATTGCTTCTTTTTGGATCC
TCATTCTCACCCATTTGGCTAATCCAGGAATATTGTTATCCCTTCCCATTATATTGAAGTTGAG
AAATGTGACAGAGGCATTTAGAGTATGGACTTTTCTTTTCTTTTTCTTTTTCTTTTTTTCTTTT
TGAGATGGAGTCACACTCTCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGCAATTTCC
GTCTCCCAAGTTCAAGCGATTCTCCTGCTTTAGACTATGGATTTCTTTAAGGAATACTGGTTTG
CAGTTTTGTTTTCTGGACTATATCAGCAGATGGTAGACAGTGTTTATGTAGATGTGTTGTTGTT
TTTATCATTGGATTTTAACTTGGCCCGAGTGAAATAATCAGATTTTTGTCATTCACACTCTCCC
CCAGTTTTGGAATAACTTGGAAGTAAGGTTCATTCCCTTAAGACGATGGATTCTGTTGAACTAT
GGGGTCCCACACTGCACTATTAATTCCACCCACTGTAAGGGCAAGGACACCATTCCTTCTACAT
ATAAGAAAAAAGTCTCTCCCCAAGGGCAGCCTTTGTTACTTTTAAATATTTTCTGTTATTACAA
GTGCTCTAATTGTGAACTTTTAAATAAAATACTATTAAGAGGTAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001116105	(Get FASTA)	NCBI Sequence Viewer
	NP_001356185	(Get FASTA)	NCBI Sequence Viewer
	NP_001356186	(Get FASTA)	NCBI Sequence Viewer
	NP_001866	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD38072	(Get FASTA)	NCBI Sequence Viewer
	AAH20695	(Get FASTA)	NCBI Sequence Viewer
	AAH58010	(Get FASTA)	NCBI Sequence Viewer
	AAI40944	(Get FASTA)	NCBI Sequence Viewer
	AAN77181	(Get FASTA)	NCBI Sequence Viewer
	AAO31763	(Get FASTA)	NCBI Sequence Viewer
	AAP84318	(Get FASTA)	NCBI Sequence Viewer
	AAY14960	(Get FASTA)	NCBI Sequence Viewer
	BAA14328	(Get FASTA)	NCBI Sequence Viewer
	BAD74204	(Get FASTA)	NCBI Sequence Viewer
	BAD74205	(Get FASTA)	NCBI Sequence Viewer
	BAD74206	(Get FASTA)	NCBI Sequence Viewer
	BAD74207	(Get FASTA)	NCBI Sequence Viewer
	BAD74208	(Get FASTA)	NCBI Sequence Viewer
	BAD74209	(Get FASTA)	NCBI Sequence Viewer
	BAD92037	(Get FASTA)	NCBI Sequence Viewer
	BAF82438	(Get FASTA)	NCBI Sequence Viewer
	BAH13804	(Get FASTA)	NCBI Sequence Viewer
	BAH14796	(Get FASTA)	NCBI Sequence Viewer
	CAA75785	(Get FASTA)	NCBI Sequence Viewer
	CAE45707	(Get FASTA)	NCBI Sequence Viewer
	CAL39127	(Get FASTA)	NCBI Sequence Viewer
	CCA94564	(Get FASTA)	NCBI Sequence Viewer
	CCD32697	(Get FASTA)	NCBI Sequence Viewer
	CCD32852	(Get FASTA)	NCBI Sequence Viewer
	EAW70492	(Get FASTA)	NCBI Sequence Viewer
	EAW70493	(Get FASTA)	NCBI Sequence Viewer
	EAW70494	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000233072
	ENSP00000233072.5
	ENSP00000402608.2
	ENSP00000406136.2
	ENSP00000500537
	ENSP00000500537.1
	ENSP00000501022
	ENSP00000501022.1
	ENSP00000501073.1
GenBank Protein	P31327	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001116105 ⟸ NM_001122633
- Peptide Label:	isoform b precursor
- UniProtKB:	Q59HF8 (UniProtKB/Swiss-Prot), Q53TL5 (UniProtKB/Swiss-Prot), P31327 (UniProtKB/Swiss-Prot), O43774 (UniProtKB/Swiss-Prot), J3KQL0 (UniProtKB/Swiss-Prot), B7Z818 (UniProtKB/Swiss-Prot), Q7Z5I5 (UniProtKB/Swiss-Prot), Q5R210 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPQIIKMTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKG YSFGHPSSVAGEVVFNTGLGGYPEAITDPAYKGQILTMANPIIGNGGAPDTTALDELGLSKYLE SNGIKVSGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIRDKGTMLGKIEFE GQPVDFVDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHD FTKMEYDGILIAGGPGNPALAEPLIQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSMA NRGQNQPVLNITNKQAFITAQNHGYALDNTLPAGWKPLFVNVNDQTNEGIMHESKPFFAVQFHP EVTPGPIDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFD YSGSQAVKAMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLIL GMGGQTALNCGVELFKRGVLKEYGVKVLGTSVESIMATEDRQLFSDKLNEINEKIAPSFAVESI EDALKAADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWKEIEY EVVRDADDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECN IQFALHPTSMEYCIIEVNARLSRSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACF EPSLDYMVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTPR LPMNKEWPSNLDLRKELSEPSSTRIYAIAKAIDDNMSLDEIEKLTYIDKWFLYKMRDILNMEKT LKGLNSESMTEETLKRAKEIGFSDKQISKCLGLTEAQTRELRLKKNIHPWVKQIDTLAAEYPSV TNYLYVTYNGQEHDVNFDDHGMMVLGCGPYHIGSSVEFDWCAVSSIRTLRQLGKKTVVVNCNPE TVSTDFDECDKLYFEELSLERILDIYHQEACGGCIISVGGQIPNNLAVPLYKNGVKIMGTSPLQ IDRAEDRSIFSAVLDELKVAQAPWKAVNTLNEALEFAKSVDYPCLLRPSYVLSGSAMNVVFSED EMKKFLEEATRVSQEHPVVLTKFVEGAREVEMDAVGKDGRVISHAISEHVEDAGVHSGDATLML PTQTISQGAIEKVKDATRKIAKAFAISGPFNVQFLVKGNDVLVIECNLRASRSFPFVSKTLGVD FIDVATKVMIGENVDEKHLPTLDHPIIPADYVAIKAPMFSWPRLRDADPILRCEMASTGEVACF GEGIHTAFLKAMLSTGFKIPQKGILIGIQQSFRPRFLGVAEQLHNEGFKLFATEATSDWLNANN VPATPVAWPSQEGQNPSLSSIRKLIRDGSIDLVINLPNNNTKFVHDNYVIRRTAVDSGIPLLTN FQVTKLFAEAVQKSRKVDSKSLFHYRQYSAGKAA hide sequence

RefSeq Acc Id:	NP_001866 ⟸ NM_001875
- Peptide Label:	isoform b precursor
- UniProtKB:	Q59HF8 (UniProtKB/Swiss-Prot), Q53TL5 (UniProtKB/Swiss-Prot), O43774 (UniProtKB/Swiss-Prot), J3KQL0 (UniProtKB/Swiss-Prot), B7Z818 (UniProtKB/Swiss-Prot), Q7Z5I5 (UniProtKB/Swiss-Prot), P31327 (UniProtKB/Swiss-Prot), Q5R210 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTRILTAFKVVRTLKTGFGFTNVTAHQKWKFSRPGIRLLSVKAQTAHIVLEDGTKMKGYSFGHP SSVAGEVVFNTGLGGYPEAITDPAYKGQILTMANPIIGNGGAPDTTALDELGLSKYLESNGIKV SGLLVLDYSKDYNHWLATKSLGQWLQEEKVPAIYGVDTRMLTKIIRDKGTMLGKIEFEGQPVDF VDPNKQNLIAEVSTKDVKVYGKGNPTKVVAVDCGIKNNVIRLLVKRGAEVHLVPWNHDFTKMEY DGILIAGGPGNPALAEPLIQNVRKILESDRKEPLFGISTGNLITGLAAGAKTYKMSMANRGQNQ PVLNITNKQAFITAQNHGYALDNTLPAGWKPLFVNVNDQTNEGIMHESKPFFAVQFHPEVTPGP IDTEYLFDSFFSLIKKGKATTITSVLPKPALVASRVEVSKVLILGSGGLSIGQAGEFDYSGSQA VKAMKEENVKTVLMNPNIASVQTNEVGLKQADTVYFLPITPQFVTEVIKAEQPDGLILGMGGQT ALNCGVELFKRGVLKEYGVKVLGTSVESIMATEDRQLFSDKLNEINEKIAPSFAVESIEDALKA ADTIGYPVMIRSAYALGGLGSGICPNRETLMDLSTKAFAMTNQILVEKSVTGWKEIEYEVVRDA DDNCVTVCNMENVDAMGVHTGDSVVVAPAQTLSNAEFQMLRRTSINVVRHLGIVGECNIQFALH PTSMEYCIIEVNARLSRSSALASKATGYPLAFIAAKIALGIPLPEIKNVVSGKTSACFEPSLDY MVTKIPRWDLDRFHGTSSRIGSSMKSVGEVMAIGRTFEESFQKALRMCHPSIEGFTPRLPMNKE WPSNLDLRKELSEPSSTRIYAIAKAIDDNMSLDEIEKLTYIDKWFLYKMRDILNMEKTLKGLNS ESMTEETLKRAKEIGFSDKQISKCLGLTEAQTRELRLKKNIHPWVKQIDTLAAEYPSVTNYLYV TYNGQEHDVNFDDHGMMVLGCGPYHIGSSVEFDWCAVSSIRTLRQLGKKTVVVNCNPETVSTDF DECDKLYFEELSLERILDIYHQEACGGCIISVGGQIPNNLAVPLYKNGVKIMGTSPLQIDRAED RSIFSAVLDELKVAQAPWKAVNTLNEALEFAKSVDYPCLLRPSYVLSGSAMNVVFSEDEMKKFL EEATRVSQEHPVVLTKFVEGAREVEMDAVGKDGRVISHAISEHVEDAGVHSGDATLMLPTQTIS QGAIEKVKDATRKIAKAFAISGPFNVQFLVKGNDVLVIECNLRASRSFPFVSKTLGVDFIDVAT KVMIGENVDEKHLPTLDHPIIPADYVAIKAPMFSWPRLRDADPILRCEMASTGEVACFGEGIHT AFLKAMLSTGFKIPQKGILIGIQQSFRPRFLGVAEQLHNEGFKLFATEATSDWLNANNVPATPV AWPSQEGQNPSLSSIRKLIRDGSIDLVINLPNNNTKFVHDNYVIRRTAVDSGIPLLTNFQVTKL FAEAVQKSRKVDSKSLFHYRQYSAGKAA hide sequence

RefSeq Acc Id:	NP_001356186 ⟸ NM_001369257
- Peptide Label:	isoform b precursor
- UniProtKB:	Q59HF8 (UniProtKB/Swiss-Prot), Q53TL5 (UniProtKB/Swiss-Prot), P31327 (UniProtKB/Swiss-Prot), O43774 (UniProtKB/Swiss-Prot), J3KQL0 (UniProtKB/Swiss-Prot), B7Z818 (UniProtKB/Swiss-Prot), Q7Z5I5 (UniProtKB/Swiss-Prot), Q5R210 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001356185 ⟸ NM_001369256
- Peptide Label:	isoform d
- UniProtKB:	Q5R210 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSP00000501073 ⟸ ENST00000673630

Ensembl Acc Id:

ENSP00000500537 ⟸ ENST00000673510

Ensembl Acc Id:

ENSP00000501022 ⟸ ENST00000673711

Ensembl Acc Id:

ENSP00000501214 ⟸ ENST00000673698

Ensembl Acc Id:

ENSP00000406136 ⟸ ENST00000451903

Ensembl Acc Id:

ENSP00000233072 ⟸ ENST00000233072

Ensembl Acc Id:

ENSP00000402608 ⟸ ENST00000430249

Ensembl Acc Id:

ENSP00000480517 ⟸ ENST00000619804

Ensembl Acc Id:

ENSP00000551618 ⟸ ENST00000881559

Ensembl Acc Id:

ENSP00000551619 ⟸ ENST00000881560

Ensembl Acc Id:

ENSP00000551621 ⟸ ENST00000881562

Ensembl Acc Id:

ENSP00000551622 ⟸ ENST00000881563

Ensembl Acc Id:

ENSP00000551620 ⟸ ENST00000881561

Ensembl Acc Id:

ENSP00000591432 ⟸ ENST00000921373

Ensembl Acc Id:

ENSP00000635785 ⟸ ENST00000965726

Ensembl Acc Id:

ENSP00000591431 ⟸ ENST00000921372

Ensembl Acc Id:

ENSP00000551623 ⟸ ENST00000881564

Ensembl Acc Id:

ENSP00000551617 ⟸ ENST00000881558

Protein Domains

ATP-grasp Carbamoyl-phosphate synthase small subunit N- Glutamine amidotransferase type-1 MGS-like

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P31327-F1-model_v2	AlphaFold	P31327	1-1500	view protein structure

Promoters

RGD ID:

6862710

Promoter ID:

EPDNEW_H4520

Type:

initiation region

Name:

CPS1_1

Description:

carbamoyl-phosphate synthase 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H4521

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	210,477,690 - 210,477,750	EPDNEW

RGD ID:

6862712

Promoter ID:

EPDNEW_H4521

Type:

initiation region

Name:

CPS1_2

Description:

carbamoyl-phosphate synthase 1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H4520

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	210,556,601 - 210,556,661	EPDNEW

RGD ID:

6797009

Promoter ID:

HG_KWN:37019

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

OTTHUMT00000256569

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	211,129,371 - 211,129,871 (+)	MPROMDB

RGD ID:

6797013

Promoter ID:

HG_KWN:37020

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

OTTHUMT00000336829

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	211,149,271 - 211,149,972 (+)	MPROMDB

RGD ID:

6797010

Promoter ID:

HG_KWN:37021

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

NM_001122634

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	211,165,621 - 211,166,522 (+)	MPROMDB

RGD ID:

6797014

Promoter ID:

HG_KWN:37022

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

OTTHUMT00000336830

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	211,177,571 - 211,178,071 (+)	MPROMDB

RGD ID:

6797015

Promoter ID:

HG_KWN:37024

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

OTTHUMT00000336831

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	211,203,321 - 211,204,172 (+)	MPROMDB

RGD ID:

6797017

Promoter ID:

HG_KWN:37025

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

OTTHUMT00000336868

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	211,222,421 - 211,223,172 (+)	MPROMDB

RGD ID:

6797016

Promoter ID:

HG_KWN:37026

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, Jurkat

Transcripts:

OTTHUMT00000336867, OTTHUMT00000336869

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	211,231,121 - 211,231,772 (+)	MPROMDB

RGD ID:

6797012

Promoter ID:

HG_KWN:37027

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

OTTHUMT00000336828

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	211,243,671 - 211,247,822 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:2323	AgrOrtholog
COSMIC	CPS1	COSMIC
Ensembl Genes	ENSG00000021826	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000233072	ENTREZGENE
	ENST00000233072.10	UniProtKB/Swiss-Prot
	ENST00000430249.7	UniProtKB/Swiss-Prot
	ENST00000451903	ENTREZGENE
	ENST00000451903.3	UniProtKB/Swiss-Prot
	ENST00000673510	ENTREZGENE
	ENST00000673510.1	UniProtKB/Swiss-Prot
	ENST00000673630.1	UniProtKB/Swiss-Prot
	ENST00000673711	ENTREZGENE
	ENST00000673711.1	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.1030.10	UniProtKB/Swiss-Prot
	3.30.1490.20	UniProtKB/Swiss-Prot
	3.40.50.1380	UniProtKB/Swiss-Prot
	3.40.50.20	UniProtKB/Swiss-Prot
	3.40.50.880	UniProtKB/Swiss-Prot
	3.50.30.20	UniProtKB/Swiss-Prot
	ATP-grasp fold, B domain	UniProtKB/Swiss-Prot
GTEx	ENSG00000021826	GTEx
HGNC ID	HGNC:2323	ENTREZGENE
Human Proteome Map	CPS1	Human Proteome Map
InterPro	ATP-grasp	UniProtKB/Swiss-Prot
	ATP_grasp_subdomain_1	UniProtKB/Swiss-Prot
	CarbamoylP_synth_lsu	UniProtKB/Swiss-Prot
	CarbamoylP_synth_lsu_oligo	UniProtKB/Swiss-Prot
	CarbamoylP_synth_lsu_oligo_sf	UniProtKB/Swiss-Prot
	CarbamoylP_synth_ssu	UniProtKB/Swiss-Prot
	CarbamoylP_synth_ssu_N	UniProtKB/Swiss-Prot
	CarbP_synth_ssu_N_sf	UniProtKB/Swiss-Prot
	CbamoylP_synth_lsu-like_ATP-bd	UniProtKB/Swiss-Prot
	CbamoylP_synth_lsu_CPSase_dom	UniProtKB/Swiss-Prot
	Class_I_gatase-like	UniProtKB/Swiss-Prot
	CPSase_GATase1	UniProtKB/Swiss-Prot
	GATASE	UniProtKB/Swiss-Prot
	MGS-like_dom	UniProtKB/Swiss-Prot
	MGS-like_dom_sf	UniProtKB/Swiss-Prot
	PreATP-grasp_dom_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:1373	UniProtKB/Swiss-Prot
NCBI Gene	1373	ENTREZGENE
OMIM	608307	OMIM
PANTHER	CARBAMOYL-PHOSPHATE SYNTHASE [AMMONIA], MITOCHONDRIAL	UniProtKB/Swiss-Prot
	CARBAMOYLTRANSFERASE FAMILY MEMBER	UniProtKB/Swiss-Prot
Pfam	CPSase_L_D2	UniProtKB/Swiss-Prot
	CPSase_L_D3	UniProtKB/Swiss-Prot
	CPSase_sm_chain	UniProtKB/Swiss-Prot
	GATase	UniProtKB/Swiss-Prot
	MGS	UniProtKB/Swiss-Prot
PharmGKB	PA26840	PharmGKB
PRINTS	CPSASE	UniProtKB/Swiss-Prot
	CPSGATASE	UniProtKB/Swiss-Prot
PROSITE	ATP_GRASP	UniProtKB/Swiss-Prot
	CPSASE_1	UniProtKB/Swiss-Prot
	CPSASE_2	UniProtKB/Swiss-Prot
	GATASE_TYPE_1	UniProtKB/Swiss-Prot
	MGS	UniProtKB/Swiss-Prot
SMART	CPSase_L_D3	UniProtKB/Swiss-Prot
	CPSase_sm_chain	UniProtKB/Swiss-Prot
	MGS	UniProtKB/Swiss-Prot
Superfamily-SCOP	Glutathione synthetase ATP-binding domain-like	UniProtKB/Swiss-Prot
	SSF48108	UniProtKB/Swiss-Prot
	SSF52021	UniProtKB/Swiss-Prot
	SSF52317	UniProtKB/Swiss-Prot
	SSF52335	UniProtKB/Swiss-Prot
	SSF52440	UniProtKB/Swiss-Prot
UniProt	A0A669KBF2_HUMAN	UniProtKB/TrEMBL
	B7Z818	ENTREZGENE
	CPSM_HUMAN	UniProtKB/Swiss-Prot
	J3KQL0	ENTREZGENE
	O43774	ENTREZGENE
	P31327	ENTREZGENE
	Q05CV6_HUMAN	UniProtKB/TrEMBL
	Q53TL5	ENTREZGENE
	Q59HF8	ENTREZGENE
	Q5R206_HUMAN	UniProtKB/TrEMBL
	Q5R207_HUMAN	UniProtKB/TrEMBL
	Q5R208_HUMAN	UniProtKB/TrEMBL
	Q5R209_HUMAN	UniProtKB/TrEMBL
	Q5R210	ENTREZGENE, UniProtKB/TrEMBL
	Q5R211_HUMAN	UniProtKB/TrEMBL
	Q6PEK7_HUMAN	UniProtKB/TrEMBL
	Q7Z5I5	ENTREZGENE
UniProt Secondary	B7Z818	UniProtKB/Swiss-Prot
	J3KQL0	UniProtKB/Swiss-Prot
	O43774	UniProtKB/Swiss-Prot
	Q53TL5	UniProtKB/Swiss-Prot
	Q59HF8	UniProtKB/Swiss-Prot
	Q7Z5I5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-08	CPS1	carbamoyl-phosphate synthase 1	CPS1	carbamoyl-phosphate synthase 1, mitochondrial	Symbol and/or name change	5135510	APPROVED
2011-07-27	CPS1	carbamoyl-phosphate synthase 1, mitochondrial	CPS1	carbamoyl-phosphate synthetase 1, mitochondrial	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

Send us a Message

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar