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# | Reference Title | Reference Citation |
1. | Hemoglobin C associated with protection from severe malaria in the Dogon of Mali, a West African population with a low prevalence of hemoglobin S. | Agarwal A, etal., Blood. 2000 Oct 1;96(7):2358-63. |
2. | Acute chest syndrome is associated with single nucleotide polymorphism-defined beta globin cluster haplotype in children with sickle cell anaemia. | Bean CJ, etal., Br J Haematol. 2013 Oct;163(2):268-76. doi: 10.1111/bjh.12507. Epub 2013 Aug 16. |
3. | Hb Bruxelles: alpha 2A beta (2)41 or 42(C7 or CD1)Phe deleted. | Blouquit Y, etal., Hemoglobin. 1989;13(5):465-74. |
4. | Beta 141 Leu is not deleted in the unstable haemoglobin Atlanta-Coventry but is replaced by a novel amino acid of mass 129 daltons. | Brennan SO, etal., Br J Haematol. 1992 May;81(1):99-103. |
5. | A sensitive test for prenatal diagnosis of sickle cell anemia: direct analysis of amniocyte DNA with MstII. | Chang JC and Kan YW, Trans Assoc Am Physicians. 1982;95:71-8. |
6. | Hb Saint Etienne or Hb Istanbul [beta92(F8)His-->Gln] found in an Argentinean family. | de Weinstein BI, etal., Hemoglobin. 2000 May;24(2):149-52. |
7. | Rapid detection of the hemoglobin C mutation by allele-specific polymerase chain reaction. | Fischel-Ghodsian N, etal., Am J Hum Genet. 1990 Dec;47(6):1023-4. |
8. | Interaction of hemoglobin E and several forms of alpha-thalassemia in Cambodian families. | Fucharoen S, etal., Haematologica. 2003 Oct;88(10):1092-8. |
9. | Hemoglobin expression in neurons and glia after intracerebral hemorrhage. | He Y, etal., Acta Neurochir Suppl. 2011;111:133-7. doi: 10.1007/978-3-7091-0693-8_22. |
10. | A humanized BAC transgenic/knockout mouse model for HbE/beta-thalassemia. | Jamsai D, etal., Genomics. 2006 Sep;88(3):309-15. Epub 2006 May 2. |
11. | Hemoglobin brigham (alpha2Abeta2100 Pro--Leu). Hemoglobin variant associated with familial erythrocytosis. | Lokich JJ, etal., J Clin Invest. 1973 Aug;52(8):2060-7. |
12. | Hemoglobin Beth Israel. A mutant causing clinically apparent cyanosis. | Nagel RL, etal., N Engl J Med. 1976 Jul 15;295(3):125-30. |
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. | Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. | Orkin SH, etal., Nature. 1982 Apr 15;296(5858):627-31. |
16. | KEGG Annotation Import Pipeline | Pipeline to import KEGG annotations from KEGG into RGD |
17. | The same beta-globin gene mutation is present on nine different beta-thalassemia chromosomes in a Sardinian population. | Pirastu M, etal., Proc Natl Acad Sci U S A. 1987 May;84(9):2882-5. |
18. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
19. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
20. | RGD HPO Phenotype Annotation Pipeline | RGD automated import pipeline for human HPO-to-gene-to-disease annotations |
21. | A mitochondrial location for haemoglobins--dynamic distribution in ageing and Parkinson's disease. | Shephard F, etal., Mitochondrion. 2014 Jan;14(1):64-72. doi: 10.1016/j.mito.2013.12.001. Epub 2013 Dec 10. |
22. | beta zero thalassemia in Sardinia is caused by a nonsense mutation. | Trecartin RF, etal., J Clin Invest. 1981 Oct;68(4):1012-7. |
23. | A toxicogenomic approach for identifying biomarkers for myelosuppressive anemia in rats. | Uehara T, etal., Toxicology. 2011 Apr 11;282(3):139-45. doi: 10.1016/j.tox.2011.01.027. Epub 2011 Feb 4. |
24. | Changes in hematological parameters in alpha-thalassemia individuals co-inherited with erythroid Kruppel-like factor mutations. | Yu LH, etal., Clin Genet. 2015 Jul;88(1):56-61. doi: 10.1111/cge.12443. Epub 2014 Jul 26. |
25. | Iron metabolism in heterozygotes for hemoglobin E (HbE), alpha-thalassemia 1, or beta-thalassemia and in compound heterozygotes for HbE/beta-thalassemia. | Zimmermann MB, etal., Am J Clin Nutr. 2008 Oct;88(4):1026-31. |
PMID:67897 | PMID:68958 | PMID:88735 | PMID:271989 | PMID:429365 | PMID:635569 | PMID:668922 | PMID:721609 | PMID:728996 | PMID:822353 | PMID:826083 | PMID:873928 |
PMID:891976 | PMID:893142 | PMID:992050 | PMID:1019344 | PMID:1115799 | PMID:1138922 | PMID:1177322 | PMID:1195378 | PMID:1247583 | PMID:1301199 | PMID:1487420 | PMID:1507231 |
PMID:1511986 | PMID:1512262 | PMID:1517102 | PMID:1540659 | PMID:1552945 | PMID:1567857 | PMID:1602151 | PMID:1634367 | PMID:1787097 | PMID:1814856 | PMID:1917530 | PMID:1917537 |
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PMID:2798417 | PMID:2921315 | PMID:2933810 | PMID:2937057 | PMID:3267215 | PMID:3382401 | PMID:3384707 | PMID:3384708 | PMID:3384709 | PMID:3384710 | PMID:3455755 | PMID:3557994 |
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PMID:37519097 | PMID:37529858 | PMID:37548174 | PMID:37548329 | PMID:37605561 | PMID:37746908 | PMID:37774812 | PMID:37820061 | PMID:37876062 | PMID:38009642 | PMID:38062488 | PMID:38113892 |
PMID:38425097 | PMID:38679728 | PMID:38943005 | PMID:39056767 | PMID:39701095 |
HBB (Homo sapiens - human) |
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Hbb-b1 (Mus musculus - house mouse) |
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Hbb (Rattus norvegicus - Norway rat) |
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Hbb (Chinchilla lanigera - long-tailed chinchilla) |
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LOC609402 (Canis lupus familiaris - dog) |
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Variants in HBB
1623 total Variants ![]() |
Name | Type | Condition(s) | Position(s) | Clinical significance |
NM_000518.4(HBB):c.26A>C (p.Lys9Thr) | single nucleotide variant | HEMOGLOBIN RIO GRANDE [RCV000030668] | Chr11:5226996 [GRCh38] Chr11:5248226 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.316-2A>C | single nucleotide variant | Beta zero thalassemia [RCV000016702]|Beta-thalassemia major [RCV001290616]|beta Thalassemia [RCV000020335]|not provided [RCV000507767] | Chr11:5225728 [GRCh38] Chr11:5246958 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.316-2A>G | single nucleotide variant | Beta zero thalassemia [RCV000016701]|Dominant beta-thalassemia [RCV002504815]|Dominant beta-thalassemia [RCV003389313]|Hb SS disease [RCV001004562]|beta Thalassemia [RCV000020336]|not provided [RCV000508360] | Chr11:5225728 [GRCh38] Chr11:5246958 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.435G>T (p.Lys145Asn) | single nucleotide variant | not provided [RCV000144412] | Chr11:5225607 [GRCh38] Chr11:5246837 [GRCh37] Chr11:11p15.4 |
not provided |
HBB, 106-KB DEL | insertion | Delta-beta-thalassemia [RCV000169772]|Hereditary persistence of fetal hemoglobin [RCV001814971] | Chr11:11p15.5 | pathogenic|not provided |
NM_000518.5(HBB):c.-106G>C | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV002290956]|Dominant beta-thalassemia [RCV005049385]|Hb SS disease [RCV001004364]|beta Thalassemia [RCV000029946]|not provided [RCV000759788]|not specified [RCV001175347] | Chr11:5227127 [GRCh38] Chr11:5248357 [GRCh37] Chr11:11p15.4 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NC_000011.10:g.5227154C>T | single nucleotide variant | beta Thalassemia [RCV000029947]|not provided [RCV000861030] | Chr11:5227154 [GRCh38] Chr11:5248384 [GRCh37] Chr11:11p15.4 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.4(HBB):c.-136C>T | single nucleotide variant | beta Thalassemia [RCV000029949]|not provided [RCV004998111] | Chr11:5227157 [GRCh38] Chr11:5248387 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.-137C>A | single nucleotide variant | Beta thalassemia intermedia [RCV001797592]|Beta-thalassemia HBB/LCRB [RCV005430466]|Dominant beta-thalassemia [RCV000763257]|Dominant beta-thalassemia [RCV005003404]|beta Thalassemia [RCV000445644]|not provided [RCV000506877] | Chr11:5227158 [GRCh38] Chr11:5248388 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|not provided |
NM_000518.5(HBB):c.-137C>T | single nucleotide variant | Beta thalassemia intermedia [RCV003317048]|Dominant beta-thalassemia [RCV005049386]|Hb SS disease [RCV001004365]|beta Thalassemia [RCV000445650]|not provided [RCV001379381] | Chr11:5227158 [GRCh38] Chr11:5248388 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|not provided |
NM_000518.5(HBB):c.-15C>A | single nucleotide variant | beta Thalassemia [RCV000029955] | Chr11:5227036 [GRCh38] Chr11:5248266 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.-31C>T | single nucleotide variant | Dominant beta-thalassemia [RCV002272029]|Dominant beta-thalassemia [RCV005049387]|Fetal hemoglobin quantitative trait locus 1 [RCV001104362]|HBB-related disorder [RCV004732554]|Hb SS disease [RCV001104361]|Hemoglobin E [RCV001104363]|beta Thalassemia [RCV000029956]|not provided [RCV000755548]|not specified [RCV001420720] | Chr11:5227052 [GRCh38] Chr11:5248282 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.-50A>C | single nucleotide variant | Beta-plus-thalassemia [RCV001838527]|Beta-thalassemia HBB/LCRB [RCV005430467]|Dominant beta-thalassemia [RCV005049388]|beta Thalassemia [RCV000029957]|not provided [RCV000508619] | Chr11:5227071 [GRCh38] Chr11:5248301 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.-51T>C | single nucleotide variant | not provided [RCV002477022]|not specified [RCV000781449] | Chr11:5227072 [GRCh38] Chr11:5248302 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.-75G>C | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV005430468]|Dominant beta-thalassemia [RCV005049389]|HBB-related disorder [RCV004532418]|beta Thalassemia [RCV000984184]|not provided [RCV000508639]|not specified [RCV000029959] | Chr11:5227096 [GRCh38] Chr11:5248326 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NC_000011.10:g.5227113G>C | single nucleotide variant | beta Thalassemia [RCV000029963]|not provided [RCV000759806] | Chr11:5227113 [GRCh38] Chr11:5248343 [GRCh37] Chr11:11p15.4 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.171C>T (p.Gly57=) | single nucleotide variant | not provided [RCV000756234]|not specified [RCV001000078] | Chr11:5226721 [GRCh38] Chr11:5247951 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met) | indel | beta Thalassemia [RCV000029966] | Chr11:5227002..5227003 [GRCh38] Chr11:5248232..5248233 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.201del (p.Val68fs) | deletion | Dominant beta-thalassemia [RCV000029967]|beta Thalassemia [RCV001078264] | Chr11:5226691 [GRCh38] Chr11:5247921 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.203_204del (p.Val68fs) | deletion | Beta-thalassemia HBB/LCRB [RCV005430469]|Dominant beta-thalassemia [RCV002496454]|beta Thalassemia [RCV000590298]|not provided [RCV000508401] | Chr11:5226688..5226689 [GRCh38] Chr11:5247918..5247919 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.246C>G (p.Leu82=) | single nucleotide variant | beta Thalassemia [RCV000029970]|not provided [RCV000944393] | Chr11:5226646 [GRCh38] Chr11:5247876 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.251del (p.Gly84fs) | deletion | Beta-thalassemia HBB/LCRB [RCV002288523]|beta Thalassemia [RCV000169623]|not provided [RCV000507807] | Chr11:5226641 [GRCh38] Chr11:5247871 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
HBB:c.262A>C (p.Thr88Pro) | single nucleotide variant | beta Thalassemia [RCV000029973] | Chr11:5226630 [GRCh38] Chr11:5247860 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.287dup (p.Leu97fs) | duplication | beta Thalassemia [RCV000029975]|not provided [RCV000507093] | Chr11:5226604..5226605 [GRCh38] Chr11:5247834..5247835 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.309C>A (p.Asn103Lys) | single nucleotide variant | beta Thalassemia [RCV001272124]|not provided [RCV000589853]|not specified [RCV003387731] | Chr11:5226583 [GRCh38] Chr11:5247813 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-146T>G | single nucleotide variant | Beta-plus-thalassemia [RCV000016714]|beta Thalassemia [RCV000029979]|not provided [RCV000985748] | Chr11:5225872 [GRCh38] Chr11:5247102 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.316-14T>G | single nucleotide variant | Dominant beta-thalassemia [RCV005049391]|beta Thalassemia [RCV000029980]|not provided [RCV000759066] | Chr11:5225740 [GRCh38] Chr11:5246970 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.316-150C>G | single nucleotide variant | beta Thalassemia [RCV000029981] | Chr11:5225876 [GRCh38] Chr11:5247106 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-184T>C | single nucleotide variant | not provided [RCV000759067]|not specified [RCV005237427] | Chr11:5225910 [GRCh38] Chr11:5247140 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-185C>T | single nucleotide variant | beta Thalassemia [RCV000029983]|not provided [RCV000860761]|not specified [RCV000243814] | Chr11:5225911 [GRCh38] Chr11:5247141 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.316-30A>C | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV003333728]|Dominant beta-thalassemia [RCV005049392]|not provided [RCV000931066]|not specified [RCV000029985] | Chr11:5225756 [GRCh38] Chr11:5246986 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.316-37G>T | single nucleotide variant | not provided [RCV000978010]|not specified [RCV000029986] | Chr11:5225763 [GRCh38] Chr11:5246993 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000518.5(HBB):c.316-70C>G | single nucleotide variant | beta Thalassemia [RCV000029988]|not provided [RCV000874736]|not specified [RCV001001830] | Chr11:5225796 [GRCh38] Chr11:5247026 [GRCh37] Chr11:11p15.4 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.316-96G>C | single nucleotide variant | not provided [RCV000874728]|not specified [RCV000507852] | Chr11:5225822 [GRCh38] Chr11:5247052 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.324C>T (p.Gly108=) | single nucleotide variant | Dominant beta-thalassemia [RCV005049393]|Fetal hemoglobin quantitative trait locus 1 [RCV001103966]|Hb SS disease [RCV001103969]|Hemoglobin E [RCV001103968]|beta Thalassemia [RCV001103967]|not provided [RCV000759069]|not specified [RCV000507146] | Chr11:5225718 [GRCh38] Chr11:5246948 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.353A>G (p.His118Arg) | single nucleotide variant | not provided [RCV000586298]|not specified [RCV002222359] | Chr11:5225689 [GRCh38] Chr11:5246919 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.402G>C (p.Val134=) | single nucleotide variant | Fetal hemoglobin quantitative trait locus 1 [RCV001107580]|HBB-related disorder [RCV004532419]|Hb SS disease [RCV001107582]|Hemoglobin E [RCV001107581]|Inborn genetic diseases [RCV002354172]|beta Thalassemia [RCV000029995]|not provided [RCV000860902] | Chr11:5225640 [GRCh38] Chr11:5246870 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.432C>T (p.His144=) | single nucleotide variant | Inborn genetic diseases [RCV002326693]|beta Thalassemia [RCV001276401]|not provided [RCV000861471]|not specified [RCV000586720] | Chr11:5225610 [GRCh38] Chr11:5246840 [GRCh37] Chr11:11p15.4 |
benign|likely benign|uncertain significance |
NM_000518.5(HBB):c.*91G>A | single nucleotide variant | not provided [RCV003476903]|not specified [RCV000029998] | Chr11:5225507 [GRCh38] Chr11:5246737 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*96T>C | single nucleotide variant | HBB-related disorder [RCV004541025]|beta Thalassemia [RCV000029999]|not provided [RCV000755281] | Chr11:5225502 [GRCh38] Chr11:5246732 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.*110T>C | single nucleotide variant | Beta-plus-thalassemia [RCV000016730]|Beta-thalassemia HBB/LCRB [RCV004566754]|Dominant beta-thalassemia [RCV005049394]|Hb SS disease [RCV001004557]|beta Thalassemia [RCV000445649]|not provided [RCV000506540] | Chr11:5225488 [GRCh38] Chr11:5246718 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.92+2T>C | single nucleotide variant | Beta zero thalassemia [RCV003991531]|Dominant beta-thalassemia [RCV002496456]|beta Thalassemia [RCV000030003]|not provided [RCV000506748] | Chr11:5226928 [GRCh38] Chr11:5248158 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV005430110]|Dominant beta-thalassemia [RCV005049395]|beta Thalassemia [RCV000030006]|not provided [RCV000506003] | Chr11:5226930 [GRCh38] Chr11:5248160 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.93-23T>C | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV003323278]|HBB-related disorder [RCV004532420]|beta Thalassemia [RCV000030010]|not provided [RCV000860961] | Chr11:5226822 [GRCh38] Chr11:5248052 [GRCh37] Chr11:11p15.4 |
benign|likely benign|uncertain significance |
NM_000518.5(HBB):c.93-3T>G | single nucleotide variant | Beta thalassemia intermedia [RCV002222330]|Beta-plus-thalassemia [RCV000016710]|beta Thalassemia [RCV000030011]|not provided [RCV002477023] | Chr11:5226802 [GRCh38] Chr11:5248032 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) | single nucleotide variant | Dominant beta-thalassemia [RCV005049340]|HEMOGLOBIN ATHENS-GEORGIA [RCV000016252]|not provided [RCV000756230]|not specified [RCV002265556] | Chr11:5226770 [GRCh38] Chr11:5248000 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.5(HBB):c.71_73del (p.Val24del) | deletion | Hemoglobinopathy [RCV000016337] | Chr11:5226949..5226951 [GRCh38] Chr11:5248179..5248181 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.115A>C (p.Thr39Pro) | single nucleotide variant | HEMOGLOBIN HAZEBROUCK [RCV000016374] | Chr11:5226777 [GRCh38] Chr11:5248007 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.341T>A (p.Val114Glu) | single nucleotide variant | Dominant beta-thalassemia [RCV005049352]|not provided [RCV001284155]|not specified [RCV000016516] | Chr11:5225701 [GRCh38] Chr11:5246931 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.5(HBB):c.226_228del (p.Leu76del) | deletion | HEMOGLOBIN VICKSBURG [RCV000016636] | Chr11:5226664..5226666 [GRCh38] Chr11:5247894..5247896 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.316C>T (p.Leu106Phe) | single nucleotide variant | HEMOGLOBIN SOUTH MILWAUKEE [RCV000016738]|not specified [RCV000506082] | Chr11:5225726 [GRCh38] Chr11:5246956 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.344T>C (p.Leu115Pro) | single nucleotide variant | Beta thalassemia intermedia [RCV000016775]|Dominant beta-thalassemia [RCV001731305]|Dominant beta-thalassemia [RCV005049375]|HEMOGLOBIN BRESCIA [RCV000016776]|HEMOGLOBIN DURHAM-N.C. [RCV000016777]|beta Thalassemia [RCV001826469]|not provided [RCV000759070] | Chr11:5225698 [GRCh38] Chr11:5246928 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|other |
NM_000518.5(HBB):c.223G>C (p.Gly75Arg) | single nucleotide variant | HEMOGLOBIN AALBORG [RCV000016242] | Chr11:5226669 [GRCh38] Chr11:5247899 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.431A>G (p.His144Arg) | single nucleotide variant | HEMOGLOBIN ABRUZZO [RCV000016243]|not provided [RCV001284490] | Chr11:5225611 [GRCh38] Chr11:5246841 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|other |
NM_000518.4(HBB):c.271G>A (p.Glu91Lys) | single nucleotide variant | HEMOGLOBIN AGENOGI [RCV000016244]|beta Thalassemia [RCV001835627]|not provided [RCV000756232]|not specified [RCV002222351] | Chr11:5226621 [GRCh38] Chr11:5247851 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
HBB, GLN39LYS | variation | HEMOGLOBIN ALABAMA [RCV000016245] | Chr11:11p15.5 | other |
NM_000518.5(HBB):c.58A>G (p.Asn20Asp) | single nucleotide variant | HEMOGLOBIN ALAMO [RCV000016246] | Chr11:5226964 [GRCh38] Chr11:5248194 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.305A>G (p.Glu102Gly) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641405]|HEMOGLOBIN ALBERTA [RCV000016247] | Chr11:5226587 [GRCh38] Chr11:5247817 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.406G>C (p.Ala136Pro) | single nucleotide variant | HEMOGLOBIN ALTDORF [RCV000016248] | Chr11:5225636 [GRCh38] Chr11:5246866 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.435G>C (p.Lys145Asn) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641406]|HEMOGLOBIN ANDREW-MINNEAPOLIS [RCV000016249]|not provided [RCV001811146] | Chr11:5225607 [GRCh38] Chr11:5246837 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.32C>A (p.Ala11Asp) | single nucleotide variant | HEMOGLOBIN ANKARA [RCV000016250] | Chr11:5226990 [GRCh38] Chr11:5248220 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.227T>C (p.Leu76Pro) | single nucleotide variant | HEMOGLOBIN ATLANTA [RCV000016254]|HEMOGLOBIN ATLANTA-COVENTRY [RCV000016255] | Chr11:5226665 [GRCh38] Chr11:5247895 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.123G>C (p.Arg41Ser) | single nucleotide variant | HEMOGLOBIN AUSTIN [RCV000016256] | Chr11:5226769 [GRCh38] Chr11:5247999 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.143A>C (p.Asp48Ala) | single nucleotide variant | HEMOGLOBIN AVICENNA [RCV000016257] | Chr11:5226749 [GRCh38] Chr11:5247979 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.283G>C (p.Asp95His) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641409]|HEMOGLOBIN BARCELONA [RCV000016258] | Chr11:5226609 [GRCh38] Chr11:5247839 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.245T>G (p.Leu82Arg) | single nucleotide variant | HEMOGLOBIN BAYLOR [RCV000016259] | Chr11:5226647 [GRCh38] Chr11:5247877 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.380T>C (p.Val127Ala) | single nucleotide variant | Dominant beta-thalassemia [RCV005049341]|HEMOGLOBIN BEIRUT [RCV000016260]|not provided [RCV001284157]|not specified [RCV001778654] | Chr11:5225662 [GRCh38] Chr11:5246892 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.5(HBB):c.46T>A (p.Trp16Arg) | single nucleotide variant | HEMOGLOBIN BELFAST [RCV000016261] | Chr11:5226976 [GRCh38] Chr11:5248206 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.266T>G (p.Leu89Arg) | single nucleotide variant | HBB-related disorder [RCV004724745]|HEMOGLOBIN BORAS [RCV000016262] | Chr11:5226626 [GRCh38] Chr11:5247856 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.359G>T (p.Gly120Val) | single nucleotide variant | HEMOGLOBIN BOUGARDIREY-MALI [RCV000016263] | Chr11:5225683 [GRCh38] Chr11:5246913 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.365A>T (p.Glu122Val) | single nucleotide variant | Dominant beta-thalassemia [RCV005049342]|HEMOGLOBIN BEOGRAD [RCV000016264]|HEMOGLOBIN D (CAMPERDOWN) [RCV000016265]|not specified [RCV004586012] | Chr11:5225677 [GRCh38] Chr11:5246907 [GRCh37] Chr11:11p15.4 |
likely pathogenic|uncertain significance|other |
NM_000518.4(HBB):c.308A>G (p.Asn103Ser) | single nucleotide variant | HEMOGLOBIN BETH ISRAEL [RCV000016266] | Chr11:5226584 [GRCh38] Chr11:5247814 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.436T>C (p.Tyr146His) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641411]|HEMOGLOBIN BETHESDA [RCV000016267]|not provided [RCV001811147] | Chr11:5225606 [GRCh38] Chr11:5246836 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.191A>C (p.His64Pro) | single nucleotide variant | HEMOGLOBIN BICETRE [RCV000016268] | Chr11:5226701 [GRCh38] Chr11:5247931 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.382C>A (p.Gln128Lys) | single nucleotide variant | HEMOGLOBIN BREST [RCV000016270] | Chr11:5225660 [GRCh38] Chr11:5246890 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.302C>T (p.Pro101Leu) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641413]|HEMOGLOBIN BRIGHAM [RCV000016271] | Chr11:5226590 [GRCh38] Chr11:5247820 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.206T>A (p.Leu69His) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641416]|HEMOGLOBIN BRISBANE [RCV000016272]|HEMOGLOBIN GREAT LAKES [RCV000016273] | Chr11:5226686 [GRCh38] Chr11:5247916 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.304G>A (p.Glu102Lys) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641420]|HEMOGLOBIN BRITISH COLUMBIA [RCV000016274] | Chr11:5226588 [GRCh38] Chr11:5247818 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.415G>C (p.Ala139Pro) | single nucleotide variant | HEMOGLOBIN BROCKTON [RCV000016275] | Chr11:5225627 [GRCh38] Chr11:5246857 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.202G>A (p.Val68Met) | single nucleotide variant | HEMOGLOBIN ALESHA [RCV000016801]|HEMOGLOBIN BRISTOL [RCV000016276]|Hemoglobinopathy [RCV005055517]|not provided [RCV004998096] | Chr11:5226690 [GRCh38] Chr11:5247920 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.127_129del (p.Phe43del) | deletion | Heinz body anemia [RCV000016278]|Hemoglobinopathy [RCV000016277]|not provided [RCV001800300] | Chr11:5226763..5226765 [GRCh38] Chr11:5247993..5247995 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance|other |
NM_000518.5(HBB):c.257T>C (p.Phe86Ser) | single nucleotide variant | Hemoglobinopathy [RCV000016279]|not provided [RCV003114195] | Chr11:5226635 [GRCh38] Chr11:5247865 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.283G>A (p.Asp95Asn) | single nucleotide variant | HEMOGLOBIN BUNBURY [RCV000016281]|not provided [RCV000985741]|not specified [RCV001804736] | Chr11:5226609 [GRCh38] Chr11:5247839 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.224G>T (p.Gly75Val) | single nucleotide variant | HEMOGLOBIN BUSHWICK [RCV000016283] | Chr11:5226668 [GRCh38] Chr11:5247898 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV002288494]|Dominant beta-thalassemia [RCV001535943]|Dominant beta-thalassemia [RCV005049343]|Dominant beta-thalassemia [RCV005357128]|HBB-related disorder [RCV003335041]|HEMOGLOBIN C [RCV000016284]|Hb SS disease [RCV000202507]|Heinz body anemia [RCV001813746]|Hereditary persistence of fetal hemoglobin [RCV003137529]|Inborn genetic diseases [RCV002415418]|Inherited hemoglobinopathy [RCV004017254]|Malaria, resistance to [RCV000016285]|Sickle cell-hemoglobin C disease [RCV003150807]|beta Thalassemia [RCV000576347]|not provided [RCV000224028] | Chr11:5227003 [GRCh38] Chr11:5248233 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|benign|protective|other |
HBB, GLN131GLU | variation | HEMOGLOBIN CAMDEN [RCV000016290]|HEMOGLOBIN MOTOWN [RCV000016291]|HEMOGLOBIN TOKUCHI [RCV000016292] | Chr11:11p15.5 | other |
NM_000518.5(HBB):c.315G>Y (p.Arg105Ser) | single nucleotide variant | HEMOGLOBIN CAMPERDOWN [RCV000016293] | Chr11:5226577 [GRCh38] Chr11:5247807 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.275T>G (p.Leu92Arg) | single nucleotide variant | HEMOGLOBIN CARIBBEAN [RCV000016294]|not provided [RCV001283991] | Chr11:5226617 [GRCh38] Chr11:5247847 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.98T>G (p.Leu33Arg) | single nucleotide variant | HEMOGLOBIN CASTILLA [RCV000016295] | Chr11:5226794 [GRCh38] Chr11:5248024 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.299A>T (p.Asp100Val) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641428]|HEMOGLOBIN CHEMILLY [RCV000016297] | Chr11:5226593 [GRCh38] Chr11:5247823 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) | single nucleotide variant | HEMOGLOBIN CHEVERLY [RCV000016298]|not provided [RCV000757360]|not specified [RCV003155027] | Chr11:5226755 [GRCh38] Chr11:5247985 [GRCh37] Chr11:11p15.4 |
likely pathogenic|uncertain significance|other |
NM_000518.5(HBB):c.200A>C (p.Lys67Thr) | single nucleotide variant | HEMOGLOBIN CHICO [RCV000016299]|not provided [RCV001811148] | Chr11:5226692 [GRCh38] Chr11:5247922 [GRCh37] Chr11:11p15.4 |
likely pathogenic|uncertain significance|other |
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) | single nucleotide variant | Dominant beta-thalassemia [RCV000709890]|Dominant beta-thalassemia [RCV001535933]|Dominant beta-thalassemia [RCV005049344]|Dominant beta-thalassemia [RCV005364880]|Fetal hemoglobin quantitative trait locus 1 [RCV001107023]|HEMOGLOBIN CITY OF HOPE [RCV000016301]|Hb SS disease [RCV001004567]|Hemoglobin E [RCV001107022]|Hemoglobinopathy [RCV005417430]|beta Thalassemia [RCV000396079]|not provided [RCV000587680]|not specified [RCV000855646] | Chr11:5226684 [GRCh38] Chr11:5247914 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other|not provided |
NM_000518.4(HBB):c.440A>G (p.His147Arg) | single nucleotide variant | HEMOGLOBIN COCHIN-PORT ROYAL [RCV000016302] | Chr11:5225602 [GRCh38] Chr11:5246832 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.64G>A (p.Asp22Asn) | single nucleotide variant | HEMOGLOBIN COCODY [RCV000016303]|not provided [RCV004998082] | Chr11:5226958 [GRCh38] Chr11:5248188 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.182T>C (p.Val61Ala) | single nucleotide variant | HEMOGLOBIN COLLINGWOOD [RCV000016304] | Chr11:5226710 [GRCh38] Chr11:5247940 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.424_426del (p.Leu142del) | deletion | HEMOGLOBIN COVENTRY [RCV000016306] | Chr11:5225616..5225618 [GRCh38] Chr11:5246846..5246848 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.440A>T (p.His147Leu) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641431]|HEMOGLOBIN COWTOWN [RCV000016307] | Chr11:5225602 [GRCh38] Chr11:5246832 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.436_437insCT (p.Tyr146fs) | insertion | HEMOGLOBIN CRANSTON [RCV000016308] | Chr11:5225605..5225606 [GRCh38] Chr11:5246835..5246836 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.388G>C (p.Ala130Pro) | single nucleotide variant | HEMOGLOBIN CRETE [RCV000016309]|beta Thalassemia [RCV001823097]|not provided [RCV004998083] | Chr11:5225654 [GRCh38] Chr11:5246884 [GRCh37] Chr11:11p15.4 |
likely pathogenic|uncertain significance|other |
NM_000518.4(HBB):c.269G>A (p.Ser90Asn) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641434]|HEMOGLOBIN CRETEIL [RCV000016310]|beta Thalassemia [RCV001374642] | Chr11:5226623 [GRCh38] Chr11:5247853 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|other |
NM_000518.5(HBB):c.49G>C (p.Gly17Arg) | single nucleotide variant | HEMOGLOBIN D (BUSHMAN) [RCV000016311] | Chr11:5226973 [GRCh38] Chr11:5248203 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.68A>T (p.Glu23Val) | single nucleotide variant | Dominant beta-thalassemia [RCV002490376]|HEMOGLOBIN D (GRANADA) [RCV000016312]|not provided [RCV000759803] | Chr11:5226954 [GRCh38] Chr11:5248184 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.263C>A (p.Thr88Lys) | single nucleotide variant | HEMOGLOBIN D (IBADAN) [RCV000016313]|beta Thalassemia [RCV001826463]|not specified [RCV000506646] | Chr11:5226629 [GRCh38] Chr11:5247859 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) | single nucleotide variant | HEMOGLOBIN D (IRAN) [RCV000016314]|not provided [RCV000589411]|not specified [RCV001280542] | Chr11:5226955 [GRCh38] Chr11:5248185 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV005229799]|Dominant beta-thalassemia [RCV005049345]|HBB-related disorder [RCV000778329]|Hb D-Los Angeles [RCV000016317]|Hb SS disease [RCV000202465]|Heinz body anemia [RCV002247348]|Hemoglobin D disease [RCV001175348]|beta Thalassemia [RCV000029994]|not provided [RCV000723826] | Chr11:5225678 [GRCh38] Chr11:5246908 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.5(HBB):c.60C>A (p.Asn20Lys) | single nucleotide variant | HEMOGLOBIN D (OULED RABAH) [RCV000016321]|not provided [RCV001811149]|not specified [RCV004526596] | Chr11:5226962 [GRCh38] Chr11:5248192 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance|other |
HBB, 2-BP INS, 25TA | insertion | Beta-plus-thalassemia [RCV000016322] | Chr11:11p15.5 | pathogenic |
HBB, 1-BP DEL, C | deletion | Beta-plus-thalassemia [RCV000016323] | Chr11:11p15.5 | pathogenic |
NM_000518.4(HBB):c.8A>G (p.His3Arg) | single nucleotide variant | HEMOGLOBIN DEER LODGE [RCV000016324]|not provided [RCV001811150] | Chr11:5227014 [GRCh38] Chr11:5248244 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|other |
NM_000518.5(HBB):c.288G>C (p.Lys96Asn) | single nucleotide variant | Dominant beta-thalassemia [RCV005049346]|HEMOGLOBIN DETROIT [RCV000016325]|not provided [RCV003476893] | Chr11:5226604 [GRCh38] Chr11:5247834 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.296T>C (p.Val99Ala) | single nucleotide variant | HEMOGLOBIN DJELFA [RCV000016326] | Chr11:5226596 [GRCh38] Chr11:5247826 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.5T>A (p.Val2Glu) | single nucleotide variant | HEMOGLOBIN DOHA [RCV000016327] | Chr11:5227017 [GRCh38] Chr11:5248247 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) | single nucleotide variant | Anemia [RCV000853358]|Beta-plus-thalassemia [RCV000016330]|Beta-thalassemia HBB/LCRB [RCV002288495]|Dominant beta-thalassemia [RCV001536065]|Dominant beta-thalassemia [RCV004795418]|Dominant beta-thalassemia [RCV005222686]|Dominant beta-thalassemia [RCV005357129]|HBB-related disorder [RCV004532365]|Hb SS disease [RCV000202534]|Hemoglobin E [RCV000016329]|Hemoglobin E disease [RCV000778330]|Hemoglobin E/beta thalassemia disease [RCV000016331]|Hemoglobin E/beta- thalassemia [RCV005252683]|Hereditary persistence of fetal hemoglobin [RCV005229800]|Inborn genetic diseases [RCV002415419]|Malaria, resistance to [RCV000016332]|Malaria, susceptibility to [RCV003989105]|beta Thalassemia [RCV000496072]|not provided [RCV000521111]|not specified [RCV000506024] | Chr11:5226943 [GRCh38] Chr11:5248173 [GRCh37] Chr11:11p15.4 |
pathogenic|conflicting interpretations of pathogenicity|protective|other|not provided |
NM_000518.4(HBB):c.67G>A (p.Glu23Lys) | single nucleotide variant | HEMOGLOBIN E (SASKATOON) [RCV000016333]|not provided [RCV000757362] | Chr11:5226955 [GRCh38] Chr11:5248185 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.152_153delinsAR (p.Thr51Lys) | indel | HEMOGLOBIN EDMONTON [RCV000016334] | Chr11:5226739..5226740 [GRCh38] Chr11:5247969..5247970 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.400G>C (p.Val134Leu) | single nucleotide variant | HEMOGLOBIN EXTREMADURA [RCV000016335] | Chr11:5225642 [GRCh38] Chr11:5246872 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.232C>T (p.His78Tyr) | single nucleotide variant | HEMOGLOBIN FUKUYAMA [RCV000016340]|beta Thalassemia [RCV001831569]|not provided [RCV001811151]|not specified [RCV002281709] | Chr11:5226660 [GRCh38] Chr11:5247890 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.238G>A (p.Asp80Asn) | single nucleotide variant | HEMOGLOBIN G (ACCRA) [RCV000016341]|HEMOGLOBIN YAIZU [RCV000030906]|not specified [RCV000507382] | Chr11:5226654 [GRCh38] Chr11:5247884 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.142G>A (p.Asp48Asn) | single nucleotide variant | HEMOGLOBIN G (COPENHAGEN) [RCV000016342]|not provided [RCV001284628]|not specified [RCV004526597] | Chr11:5226750 [GRCh38] Chr11:5247980 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) | single nucleotide variant | HEMOGLOBIN G (COUSHATTA) [RCV000016343]|HEMOGLOBIN G (HSIN-CHU) [RCV000016345]|HEMOGLOBIN G (SASKATOON) [RCV000016344]|HEMOGLOBIN G (TAEGU) [RCV000016346]|beta Thalassemia [RCV000030001]|not provided [RCV000224041]|not specified [RCV003226160] | Chr11:5226954 [GRCh38] Chr11:5248184 [GRCh37] Chr11:11p15.4 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.5(HBB):c.174C>A (p.Asn58Lys) | single nucleotide variant | HEMOGLOBIN G (FERRARA) [RCV000016347]|not provided [RCV001811152] | Chr11:5226718 [GRCh38] Chr11:5247948 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.20A>C (p.Glu7Ala) | single nucleotide variant | HEMOGLOBIN G (MAKASSAR) [RCV000016352]|not specified [RCV003234907] | Chr11:5227002 [GRCh38] Chr11:5248232 [GRCh37] Chr11:11p15.4 |
likely benign|other |
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) | single nucleotide variant | HEMOGLOBIN G (SAN JOSE) [RCV000016353]|not provided [RCV000756237]|not specified [RCV000781437] | Chr11:5226999 [GRCh38] Chr11:5248229 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.5(HBB):c.243C>A (p.Asn81Lys) | single nucleotide variant | HEMOGLOBIN G (SZUHU) [RCV000016354]|HEMOGLOBIN GIFU [RCV000016355] | Chr11:5226649 [GRCh38] Chr11:5247879 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.68A>G (p.Glu23Gly) | single nucleotide variant | HEMOGLOBIN G (TAIPEI) [RCV000016356]|not provided [RCV000756231] | Chr11:5226954 [GRCh38] Chr11:5248184 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.4(HBB):c.76G>C (p.Gly26Arg) | single nucleotide variant | HEMOGLOBIN G (TAIWAN-AMI) [RCV000016357] | Chr11:5226946 [GRCh38] Chr11:5248176 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.139G>A (p.Gly47Arg) | single nucleotide variant | HEMOGLOBIN GAINESVILLE-GA [RCV000016358] | Chr11:5226753 [GRCh38] Chr11:5247983 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.143A>G (p.Asp48Gly) | single nucleotide variant | HEMOGLOBIN GAVELLO [RCV000016359] | Chr11:5226749 [GRCh38] Chr11:5247979 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.418A>G (p.Asn140Asp) | single nucleotide variant | HEMOGLOBIN GEELONG [RCV000016360]|HEMOGLOBIN JINAN [RCV000016361] | Chr11:5225624 [GRCh38] Chr11:5246854 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.86T>C (p.Leu29Pro) | single nucleotide variant | HEMOGLOBIN GENOVA [RCV000016362]|HEMOGLOBIN HYOGO [RCV000016363]|Hemoglobinopathy [RCV001731302] | Chr11:5226936 [GRCh38] Chr11:5248166 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.83C>T (p.Ala28Val) | single nucleotide variant | HEMOGLOBIN GRANGE-BLANCHE [RCV000016364]|not provided [RCV003441719] | Chr11:5226939 [GRCh38] Chr11:5248169 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.280_294del (p.Cys94_His98del) | deletion | HEMOGLOBIN GUN HILL [RCV000016365] | Chr11:5226598..5226612 [GRCh38] Chr11:5247828..5247842 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.382C>G (p.Gln128Glu) | single nucleotide variant | HEMOGLOBIN COMPLUTENSE [RCV000016367]|HEMOGLOBIN HACETTEPE [RCV000016366] | Chr11:5225660 [GRCh38] Chr11:5246890 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.169G>C (p.Gly57Arg) | single nucleotide variant | HEMOGLOBIN HAMADAN [RCV000016369]|not provided [RCV005229801] | Chr11:5226723 [GRCh38] Chr11:5247953 [GRCh37] Chr11:11p15.4 |
likely benign|other |
NM_000518.4(HBB):c.34G>A (p.Val12Ile) | single nucleotide variant | Dominant beta-thalassemia [RCV005003359]|Fetal hemoglobin quantitative trait locus 1 [RCV001107684]|HEMOGLOBIN HAMILTON [RCV000016370]|Hb SS disease [RCV001107685]|Hemoglobin E [RCV001107686]|beta Thalassemia [RCV001104053]|not provided [RCV000756241]|not specified [RCV001778655] | Chr11:5226988 [GRCh38] Chr11:5248218 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) | single nucleotide variant | HEMOGLOBIN CHIBA [RCV000016372]|HEMOGLOBIN HAMMERSMITH [RCV000016371]|Heinz body anemia [RCV000016373]|beta Thalassemia [RCV001831570]|not provided [RCV000757359] | Chr11:5226764 [GRCh38] Chr11:5247994 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.248A>T (p.Lys83Met) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641463]|HEMOGLOBIN HELSINKI [RCV000016376]|not provided [RCV001811153] | Chr11:5226644 [GRCh38] Chr11:5247874 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.80A>T (p.Glu27Val) | single nucleotide variant | HEMOGLOBIN HENRI MONDOR [RCV000016377] | Chr11:5226942 [GRCh38] Chr11:5248172 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.361A>G (p.Lys121Glu) | single nucleotide variant | HEMOGLOBIN HIJIYAMA [RCV000016378]|not provided [RCV004998084] | Chr11:5225681 [GRCh38] Chr11:5246911 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.186G>C (p.Lys62Asn) | single nucleotide variant | HEMOGLOBIN HIKARI [RCV000016379]|not provided [RCV003103714]|not specified [RCV003234908] | Chr11:5226706 [GRCh38] Chr11:5247936 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance|other |
NM_000518.4(HBB):c.422C>A (p.Ala141Asp) | single nucleotide variant | HEMOGLOBIN HIMEJI [RCV000016380]|beta Thalassemia [RCV001277081]|not specified [RCV000757357] | Chr11:5225620 [GRCh38] Chr11:5246850 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.420T>A (p.Asn140Lys) | single nucleotide variant | HEMOGLOBIN HINSDALE [RCV000016381]|not provided [RCV003736539] | Chr11:5225622 [GRCh38] Chr11:5246852 [GRCh37] Chr11:11p15.4 |
likely benign|other |
NM_000518.5(HBB):c.113G>C (p.Trp38Ser) | single nucleotide variant | HEMOGLOBIN HIROSE [RCV000016382] | Chr11:5226779 [GRCh38] Chr11:5248009 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.439C>G (p.His147Asp) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641470]|HEMOGLOBIN HIROSHIMA [RCV000016383] | Chr11:5225603 [GRCh38] Chr11:5246833 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.380T>A (p.Val127Glu) | single nucleotide variant | Dominant beta-thalassemia [RCV005049347]|HEMOGLOBIN HOFU [RCV000016384]|beta Thalassemia [RCV001507092]|not provided [RCV000759797] | Chr11:5225662 [GRCh38] Chr11:5246892 [GRCh37] Chr11:11p15.4 |
likely pathogenic|uncertain significance|other |
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV002290955]|Hb SS disease [RCV001004558]|Inborn genetic diseases [RCV002321485]|beta Thalassemia [RCV000029996]|not provided [RCV001284489]|not specified [RCV000016385] | Chr11:5225632 [GRCh38] Chr11:5246862 [GRCh37] Chr11:11p15.4 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|other |
NM_000518.4(HBB):c.130G>C (p.Glu44Gln) | single nucleotide variant | not specified [RCV000016387] | Chr11:5226762 [GRCh38] Chr11:5247992 [GRCh37] Chr11:11p15.4 |
benign|other |
NM_000518.4(HBB):c.299A>G (p.Asp100Gly) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641476]|HEMOGLOBIN HOTEL-DIEU [RCV000016388] | Chr11:5226593 [GRCh38] Chr11:5247823 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.178A>G (p.Lys60Glu) | single nucleotide variant | HEMOGLOBIN I (HIGH WYCOMBE) [RCV000016389] | Chr11:5226714 [GRCh38] Chr11:5247944 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.199A>G (p.Lys67Glu) | single nucleotide variant | Dominant beta-thalassemia [RCV005049348]|Hemoglobinopathy [RCV000016390]|not provided [RCV000985737]|not specified [RCV004586013] | Chr11:5226693 [GRCh38] Chr11:5247923 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|uncertain significance|other |
NM_000518.4(HBB):c.277C>G (p.His93Asp) | single nucleotide variant | HEMOGLOBIN J (ALTGELD GARDENS) [RCV000016396] | Chr11:5226615 [GRCh38] Chr11:5247845 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.54G>C (p.Lys18Asn) | single nucleotide variant | HEMOGLOBIN J (AMIENS) [RCV000016397] | Chr11:5226968 [GRCh38] Chr11:5248198 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.197A>T (p.Lys66Met) | single nucleotide variant | HEMOGLOBIN J (ANTAKYA) [RCV000016398] | Chr11:5226695 [GRCh38] Chr11:5247925 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.77G>A (p.Gly26Asp) | single nucleotide variant | HEMOGLOBIN J (AUCKLAND) [RCV000016399] | Chr11:5226945 [GRCh38] Chr11:5248175 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) | single nucleotide variant | HEMOGLOBIN J (BALTIMORE) [RCV000016400]|not provided [RCV000755547]|not specified [RCV004562214] | Chr11:5226972 [GRCh38] Chr11:5248202 [GRCh37] Chr11:11p15.4 |
benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.4(HBB):c.194G>A (p.Gly65Asp) | single nucleotide variant | HEMOGLOBIN J (BARI) [RCV000016412]|HEMOGLOBIN J (CALABRIA) [RCV000016410]|HEMOGLOBIN J (COSENZA) [RCV000016411] | Chr11:5226698 [GRCh38] Chr11:5247928 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.230C>A (p.Ala77Asp) | single nucleotide variant | HEMOGLOBIN J (CHICAGO) [RCV000016413] | Chr11:5226662 [GRCh38] Chr11:5247892 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.386C>A (p.Ala129Asp) | single nucleotide variant | HEMOGLOBIN J (GUANTANAMO) [RCV000016416] | Chr11:5225656 [GRCh38] Chr11:5246886 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.232C>G (p.His78Asp) | single nucleotide variant | HEMOGLOBIN J (IRAN) [RCV000016417]|not provided [RCV000985739] | Chr11:5226660 [GRCh38] Chr11:5247890 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.5(HBB):c.180G>C (p.Lys60Asn) | single nucleotide variant | HEMOGLOBIN J (LOME) [RCV000016421]|beta Thalassemia [RCV001272126]|not provided [RCV001800301]|not specified [RCV001001409] | Chr11:5226712 [GRCh38] Chr11:5247942 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.25A>C (p.Lys9Gln) | single nucleotide variant | HEMOGLOBIN J (LUHE) [RCV000016422] | Chr11:5226997 [GRCh38] Chr11:5248227 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.209G>A (p.Gly70Asp) | single nucleotide variant | not provided [RCV001811155]|not specified [RCV000016423] | Chr11:5226683 [GRCh38] Chr11:5247913 [GRCh37] Chr11:11p15.4 |
pathogenic|benign|likely benign|other |
NM_000518.5(HBB):c.198G>C (p.Lys66Asn) | single nucleotide variant | HEMOGLOBIN J (SICILIA) [RCV000016425] | Chr11:5226694 [GRCh38] Chr11:5247924 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.389C>A (p.Ala130Asp) | single nucleotide variant | HEMOGLOBIN J (TAICHUNG) [RCV000016426]|HEMOGLOBIN K (CAMEROON) [RCV000016429] | Chr11:5225653 [GRCh38] Chr11:5246883 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.328G>C (p.Val110Leu) | single nucleotide variant | HEMOGLOBIN JOHNSTOWN [RCV000016428]|not provided [RCV001284154] | Chr11:5225714 [GRCh38] Chr11:5246944 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.397A>C (p.Lys133Gln) | single nucleotide variant | HEMOGLOBIN K (WOOLWICH) [RCV000016431]|not provided [RCV001284159]|not specified [RCV000780329] | Chr11:5225645 [GRCh38] Chr11:5246875 [GRCh37] Chr11:11p15.4 |
likely benign|other |
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV003338382]|Beta-thalassemia major [RCV001794452]|Dominant beta-thalassemia [RCV005049349]|HBB-related disorder [RCV004732545]|Hb SS disease [RCV001004351]|beta Thalassemia [RCV000016432]|not provided [RCV000506942] | Chr11:5226930 [GRCh38] Chr11:5248160 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.308A>C (p.Asn103Thr) | single nucleotide variant | not specified [RCV000016434] | Chr11:5226584 [GRCh38] Chr11:5247814 [GRCh37] Chr11:11p15.4 |
benign|other |
NM_000518.4(HBB):c.298G>A (p.Asp100Asn) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641495]|HEMOGLOBIN KEMPSEY [RCV000016436] | Chr11:5226594 [GRCh38] Chr11:5247824 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.208G>C (p.Gly70Arg) | single nucleotide variant | HEMOGLOBIN KENITRA [RCV000016437]|not provided [RCV004998085] | Chr11:5226684 [GRCh38] Chr11:5247914 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.374C>G (p.Pro125Arg) | single nucleotide variant | HEMOGLOBIN KHARTOUM [RCV000016438]|Hemoglobinopathy [RCV000780333]|not provided [RCV004998086] | Chr11:5225668 [GRCh38] Chr11:5246898 [GRCh37] Chr11:11p15.4 |
likely pathogenic|uncertain significance|other |
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) | single nucleotide variant | Beta-Knossos-thalassemia [RCV000016441]|Beta-plus-thalassemia [RCV000016440]|Dominant beta-thalassemia [RCV005049350]|HEMOGLOBIN KNOSSOS [RCV000016439]|Hb SS disease [RCV001004353]|Hemoglobinopathy [RCV000780311]|Malaria, susceptibility to [RCV003992156]|beta Thalassemia [RCV000169609]|not provided [RCV000757368] | Chr11:5226940 [GRCh38] Chr11:5248170 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
NM_000518.5(HBB):c.295G>A (p.Val99Met) | single nucleotide variant | Heinz body anemia [RCV000016446]|Hemoglobinopathy [RCV000016443]|beta Thalassemia [RCV001826464]|not provided [RCV001811157] | Chr11:5226597 [GRCh38] Chr11:5247827 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
HBB, 15-BP INS | insertion | HEMOGLOBIN KORIYAMA [RCV000016447] | Chr11:11p15.5 | other |
NM_000518.4(HBB):c.19G>C (p.Glu7Gln) | single nucleotide variant | HEMOGLOBIN MACHIDA [RCV000016448]|not specified [RCV005055515] | Chr11:5227003 [GRCh38] Chr11:5248233 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) | single nucleotide variant | HEMOGLOBIN KORLE-BU [RCV000016449]|beta Thalassemia [RCV001826465]|not provided [RCV000587238]|not specified [RCV000855647] | Chr11:5226672 [GRCh38] Chr11:5247902 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|other |
NM_000518.5(HBB):c.389C>T (p.Ala130Val) | single nucleotide variant | Dominant beta-thalassemia [RCV005049351]|HEMOGLOBIN LA DESIRADE [RCV000016450]|Hb SS disease [RCV001004559]|Hemoglobinopathy [RCV001804165]|not provided [RCV001284158] | Chr11:5225653 [GRCh38] Chr11:5246883 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.4(HBB):c.149C>T (p.Ser50Phe) | single nucleotide variant | HEMOGLOBIN LAS PALMAS [RCV000016451]|not provided [RCV003476894]|not specified [RCV001804737] | Chr11:5226743 [GRCh38] Chr11:5247973 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.19GAG[1] (p.Glu8del) | microsatellite | HEMOGLOBIN LEIDEN [RCV000016452]|not provided [RCV001800302] | Chr11:5226998..5227000 [GRCh38] Chr11:5248228..5248230 [GRCh37] Chr11:11p15.4 |
likely pathogenic|other |
HBB, HBB/HBD FUSION, HBD137DEL | fusion | HBB/HBD anti-Lepore [RCV000016454]|HEMOGLOBIN LINCOLN PARK [RCV000016453] | Chr11:11p15.5 | pathogenic|other |
NM_000518.4(HBB):c.109C>A (p.Pro37Thr) | single nucleotide variant | HEMOGLOBIN LINKOPING [RCV000016455]|HEMOGLOBIN MEILAHTI [RCV000016456] | Chr11:5226783 [GRCh38] Chr11:5248013 [GRCh37] Chr11:11p15.4 |
other |
Hb Little Rock | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641506] | Chr11:5225610 [GRCh38] Chr11:5246840 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.127T>C (p.Phe43Leu) | single nucleotide variant | Hemolytic anemia [RCV000016458] | Chr11:5226765 [GRCh38] Chr11:5247995 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.89G>A (p.Gly30Asp) | single nucleotide variant | HEMOGLOBIN LUFKIN [RCV000016460]|not provided [RCV004998087] | Chr11:5226933 [GRCh38] Chr11:5248163 [GRCh37] Chr11:11p15.4 |
likely pathogenic|other |
NM_000518.5(HBB):c.54_59del (p.Lys18_Val19del) | deletion | HEMOGLOBIN LYON [RCV000016461] | Chr11:5226963..5226968 [GRCh38] Chr11:5248193..5248198 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.203T>A (p.Val68Glu) | single nucleotide variant | HEMOGLOBIN M (MILWAUKEE 1) [RCV000016462]|METHEMOGLOBINEMIA, BETA TYPE [RCV000641512] | Chr11:5226689 [GRCh38] Chr11:5247919 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.277C>T (p.His93Tyr) | single nucleotide variant | HEMOGLOBIN M (AKITA) [RCV000016465]|HEMOGLOBIN M (HYDE PARK) [RCV000016464]|HEMOGLOBIN M (MILWAUKEE 2) [RCV000016463]|METHEMOGLOBINEMIA, BETA TYPE [RCV000641516]|not provided [RCV003476895] | Chr11:5226615 [GRCh38] Chr11:5247845 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.190C>T (p.His64Tyr) | single nucleotide variant | HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE [RCV000641524]|HEMOGLOBIN M (SASKATOON) [RCV000016466]|Inborn genetic diseases [RCV001266995]|METHEMOGLOBINEMIA, BETA TYPE [RCV005429213]|beta Thalassemia [RCV000988480]|not provided [RCV004998088] | Chr11:5226702 [GRCh38] Chr11:5247932 [GRCh37] Chr11:11p15.4 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.5(HBB):c.59A>G (p.Asn20Ser) | single nucleotide variant | Beta-Malay-thalassemia [RCV000016481]|Beta-plus-thalassemia [RCV000016480]|HEMOGLOBIN MALAY [RCV000016479]|beta Thalassemia [RCV000020338]|not provided [RCV000508637] | Chr11:5226963 [GRCh38] Chr11:5248193 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.142G>T (p.Asp48Tyr) | single nucleotide variant | HEMOGLOBIN MAPUTO [RCV000016483]|not provided [RCV004998089] | Chr11:5226750 [GRCh38] Chr11:5247980 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.8A>C (p.His3Pro) | single nucleotide variant | not specified [RCV000016485] | Chr11:5227014 [GRCh38] Chr11:5248244 [GRCh37] Chr11:11p15.4 |
pathogenic|benign|uncertain significance|other |
NM_000518.4(HBB):c.125T>A (p.Phe42Tyr) | single nucleotide variant | HEMOGLOBIN MEQUON [RCV000016488] | Chr11:5226767 [GRCh38] Chr11:5247997 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.438T>A (p.Tyr146Ter) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641529]|HEMOGLOBIN MCKEES ROCKS [RCV000016489] | Chr11:5225604 [GRCh38] Chr11:5246834 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.356T>A (p.Phe119Tyr) | single nucleotide variant | HEMOGLOBIN MINNEAPOLIS-LAOS [RCV000016490] | Chr11:5225686 [GRCh38] Chr11:5246916 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.433A>G (p.Lys145Glu) | single nucleotide variant | HEMOGLOBIN MITO [RCV000016493] | Chr11:5225609 [GRCh38] Chr11:5246839 [GRCh37] Chr11:11p15.4 |
other |
NC_000011.10:g.5226955_5234367dup | duplication | HBB/HBD anti-Lepore [RCV000016495]|HEMOGLOBIN MIYADA [RCV000016494] | Chr11:5226954..5226955 [GRCh38] Chr11:5248184..5248185 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.71T>G (p.Val24Gly) | single nucleotide variant | HEMOGLOBIN MIYASHIRO [RCV000016496] | Chr11:5226951 [GRCh38] Chr11:5248181 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.206T>C (p.Leu69Pro) | single nucleotide variant | Atypical hemolytic-uremic syndrome [RCV003447476]|HEMOGLOBIN MIZUHO [RCV000016497] | Chr11:5226686 [GRCh38] Chr11:5247916 [GRCh37] Chr11:11p15.4 |
likely pathogenic|other |
F83S | variation | HEMOGLOBIN MIZUNAMI [RCV000016498] | Chr11:11p15.5 | other |
NM_000518.4(HBB):c.221A>T (p.Asp74Val) | single nucleotide variant | HEMOGLOBIN MOBILE [RCV000016499] | Chr11:5226671 [GRCh38] Chr11:5247901 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.292C>T (p.His98Tyr) | single nucleotide variant | HEMOGLOBIN MORIGUCHI [RCV000016500] | Chr11:5226600 [GRCh38] Chr11:5247830 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.74G>A (p.Gly25Asp) | single nucleotide variant | HEMOGLOBIN MOSCVA [RCV000016501] | Chr11:5226948 [GRCh38] Chr11:5248178 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.278A>G (p.His93Arg) | single nucleotide variant | HEMOGLOBIN MOZHAISK [RCV000016502] | Chr11:5226614 [GRCh38] Chr11:5247844 [GRCh37] Chr11:11p15.4 |
other |
HBB, LYS95ASP | variation | HEMOGLOBIN N, BETA TYPE [RCV000016503] | Chr11:11p15.5 | other |
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) | single nucleotide variant | HEMOGLOBIN HOPKINS 1 [RCV000016507]|HEMOGLOBIN JENKINS [RCV000016506]|HEMOGLOBIN KENWOOD [RCV000016508]|HEMOGLOBIN N (BALTIMORE) [RCV000016504]|HEMOGLOBIN N (JENKINS) [RCV000016505]|beta Thalassemia [RCV001835628]|not provided [RCV000755549]|not specified [RCV000506157] | Chr11:5226606 [GRCh38] Chr11:5247836 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|other |
HBB, LYS95GLX | variation | HEMOGLOBIN N (MEMPHIS) [RCV000016509] | Chr11:11p15.5 | other |
NM_000518.4(HBB):c.184A>G (p.Lys62Glu) | single nucleotide variant | HEMOGLOBIN N (SEATTLE) [RCV000016510]|beta Thalassemia [RCV001826466]|not provided [RCV001811159]|not specified [RCV004525854] | Chr11:5226708 [GRCh38] Chr11:5247938 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.25A>G (p.Lys9Glu) | single nucleotide variant | HEMOGLOBIN N (TIMONE) [RCV000016511]|not provided [RCV001269803] | Chr11:5226997 [GRCh38] Chr11:5248227 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.52A>G (p.Lys18Glu) | single nucleotide variant | HEMOGLOBIN NAGASAKI [RCV000016512] | Chr11:5226970 [GRCh38] Chr11:5248200 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.293A>C (p.His98Pro) | single nucleotide variant | HEMOGLOBIN NAGOYA [RCV000016513] | Chr11:5226599 [GRCh38] Chr11:5247829 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.392A>C (p.Tyr131Ser) | single nucleotide variant | HEMOGLOBIN NEVERS [RCV000016514] | Chr11:5225650 [GRCh38] Chr11:5246880 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.302C>G (p.Pro101Arg) | single nucleotide variant | HEMOGLOBIN NEW MEXICO [RCV000016515]|not provided [RCV001811160] | Chr11:5226590 [GRCh38] Chr11:5247820 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.278A>C (p.His93Pro) | single nucleotide variant | HEMOGLOBIN NEWCASTLE [RCV000016518] | Chr11:5226614 [GRCh38] Chr11:5247844 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.131_139del (p.Glu44_Phe46del) | deletion | HEMOGLOBIN NITEROI [RCV000016519] | Chr11:5226753..5226761 [GRCh38] Chr11:5247983..5247991 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.109C>T (p.Pro37Ser) | single nucleotide variant | HEMOGLOBIN NORTH CHICAGO [RCV000016520] | Chr11:5226783 [GRCh38] Chr11:5248013 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.404T>A (p.Val135Glu) | single nucleotide variant | Hemoglobinopathy [RCV000016521] | Chr11:5225638 [GRCh38] Chr11:5246868 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.296T>G (p.Val99Gly) | single nucleotide variant | HEMOGLOBIN NOTTINGHAM [RCV000016523] | Chr11:5226596 [GRCh38] Chr11:5247826 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) | single nucleotide variant | Dominant beta-thalassemia [RCV002476974]|HEMOGLOBIN EGYPT [RCV000016525]|HEMOGLOBIN O (ARAB) [RCV000016524]|Hb SS disease [RCV000202511]|Sickle cell-Hemoglobin O Arab disease [RCV000587075]|beta Thalassemia [RCV000029993]|not provided [RCV000508438] | Chr11:5225678 [GRCh38] Chr11:5246908 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|uncertain significance|other |
NM_000518.4(HBB):c.158A>C (p.Asp53Ala) | single nucleotide variant | HEMOGLOBIN OCHO RIOS [RCV000016526]|not provided [RCV004998090] | Chr11:5226734 [GRCh38] Chr11:5247964 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.428C>A (p.Ala143Asp) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641554]|HEMOGLOBIN OHIO [RCV000016527]|not provided [RCV004998091] | Chr11:5225614 [GRCh38] Chr11:5246844 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance|other |
NM_000518.4(HBB):c.146T>G (p.Leu49Arg) | single nucleotide variant | HEMOGLOBIN OKALOOSA [RCV000016528] | Chr11:5226746 [GRCh38] Chr11:5247976 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.9T>A (p.His3Gln) | single nucleotide variant | HEMOGLOBIN OKAYAMA [RCV000016529]|not provided [RCV003736540] | Chr11:5227013 [GRCh38] Chr11:5248243 [GRCh37] Chr11:11p15.4 |
likely benign|other |
NM_000518.5(HBB):c.280T>C (p.Cys94Arg) | single nucleotide variant | HEMOGLOBIN OKAZAKI [RCV000016530] | Chr11:5226612 [GRCh38] Chr11:5247842 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5:c.436T>A | single nucleotide variant | Erythrocytosis 6, familial [RCV000641560]|HEMOGLOBIN FORT GORDON [RCV000016536]|HEMOGLOBIN NANCY [RCV000016535]|HEMOGLOBIN OSLER [RCV000016534] | Chr11:11p15.5 | pathogenic|other |
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) | single nucleotide variant | beta Thalassemia [RCV000029964]|not provided [RCV001811161]|not specified [RCV000016537] | Chr11:5226735 [GRCh38] Chr11:5247965 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.5(HBB):c.350A>G (p.His117Arg) | single nucleotide variant | HEMOGLOBIN P (GALVESTON) [RCV000016539]|HEMOGLOBIN P [RCV000016538] | Chr11:5225692 [GRCh38] Chr11:5246922 [GRCh37] Chr11:11p15.4 |
other |
HBB, HBB/HBD FUSION | fusion | HBB/HBD anti-Lepore [RCV004558263]|HEMOGLOBIN P (CONGO) [RCV000016540] | Chr11:11p15.5 | pathogenic|other |
HBB, HBB/HBD FUSION | fusion | HBB/HBD anti-Lepore [RCV000016543]|HEMOGLOBIN P (NILOTIC) [RCV000016542] | Chr11:11p15.5 | pathogenic|other |
NM_000518.4(HBB):c.70G>T (p.Val24Phe) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641570]|HEMOGLOBIN PALMERSTON NORTH [RCV000016544] | Chr11:5226952 [GRCh38] Chr11:5248182 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.227T>G (p.Leu76Arg) | single nucleotide variant | HEMOGLOBIN PASADENA [RCV000016545] | Chr11:5226665 [GRCh38] Chr11:5247895 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.98T>C (p.Leu33Pro) | single nucleotide variant | HEMOGLOBIN ABRAHAM LINCOLN [RCV000016547]|HEMOGLOBIN KOBE [RCV000016548]|HEMOGLOBIN PERTH [RCV000016546]|not provided [RCV003480032] | Chr11:5226794 [GRCh38] Chr11:5248024 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.334G>T (p.Val112Phe) | single nucleotide variant | HEMOGLOBIN PETERBOROUGH [RCV000016549] | Chr11:5225708 [GRCh38] Chr11:5246938 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.273G>C (p.Glu91Asp) | single nucleotide variant | HEMOGLOBIN PIERRE-BENITE [RCV000016551]|Hemoglobinopathy [RCV003387724] | Chr11:5226619 [GRCh38] Chr11:5247849 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.103G>T (p.Val35Phe) | single nucleotide variant | Dominant beta-thalassemia [RCV005049353]|Erythrocytosis [RCV000016552]|Erythrocytosis, familial, 6 [RCV000641578]|not provided [RCV001284488] | Chr11:5226789 [GRCh38] Chr11:5248019 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|other |
NM_000518.4(HBB):c.299A>C (p.Asp100Ala) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641589]|HEMOGLOBIN RADCLIFFE [RCV000016555] | Chr11:5226593 [GRCh38] Chr11:5247823 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) | single nucleotide variant | HEMOGLOBIN PORTO ALEGRE [RCV000016556]|not provided [RCV000985743]|not specified [RCV000508345] | Chr11:5226993 [GRCh38] Chr11:5248223 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|other |
NM_000518.5(HBB):c.306G>C (p.Glu102Asp) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641582]|HEMOGLOBIN POTOMAC [RCV000016557] | Chr11:5226586 [GRCh38] Chr11:5247816 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.249G>Y (p.Lys83Asn) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641585]|HEMOGLOBIN PROVIDENCE [RCV000016559] | Chr11:5226643 [GRCh38] Chr11:5247873 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.251G>A (p.Gly84Asp) | single nucleotide variant | HEMOGLOBIN PYRGOS [RCV000016560]|not provided [RCV001811162]|not specified [RCV003234909] | Chr11:5226641 [GRCh38] Chr11:5247871 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance|other |
NM_000518.4(HBB):c.248A>C (p.Lys83Thr) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641593]|HEMOGLOBIN RAHERE [RCV000016561] | Chr11:5226644 [GRCh38] Chr11:5247874 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.5T>C (p.Val2Ala) | single nucleotide variant | HEMOGLOBIN RALEIGH [RCV000016563]|beta Thalassemia [RCV001831571]|not provided [RCV001811163]|not specified [RCV000781459] | Chr11:5227017 [GRCh38] Chr11:5248247 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance|other |
NM_000518.5(HBB):c.46T>G (p.Trp16Gly) | single nucleotide variant | HEMOGLOBIN RANDWICK [RCV000016564] | Chr11:5226976 [GRCh38] Chr11:5248206 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.309C>R (p.Asn103Lys) | single nucleotide variant | HEMOGLOBIN RICHMOND [RCV000016566] | Chr11:5226583 [GRCh38] Chr11:5247813 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.73G>C (p.Gly25Arg) | single nucleotide variant | HEMOGLOBIN RIVERDALE-BRONX [RCV000016567] | Chr11:5226949 [GRCh38] Chr11:5248179 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) | single nucleotide variant | not provided [RCV000589733]|not specified [RCV000016568] | Chr11:5225679 [GRCh38] Chr11:5246909 [GRCh37] Chr11:11p15.4 |
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.5(HBB):c.112T>A (p.Trp38Arg) | single nucleotide variant | HEMOGLOBIN ROTHSCHILD [RCV000016571] | Chr11:5226780 [GRCh38] Chr11:5248010 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.304G>C (p.Glu102Gln) | single nucleotide variant | HEMOGLOBIN RUSH [RCV000016572] | Chr11:5226588 [GRCh38] Chr11:5247818 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.20A>T (p.Glu7Val) | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV002288496]|Dominant beta-thalassemia [RCV000477892]|Dominant beta-thalassemia [RCV001535873]|Dominant beta-thalassemia [RCV005049354]|Dominant beta-thalassemia [RCV005357130]|Fetal hemoglobin quantitative trait locus 1 [RCV000723337]|HBB-related disorder [RCV001824571]|HEMOGLOBIN S [RCV000016573]|Hb SS disease [RCV000016574]|Hereditary persistence of fetal hemoglobin [RCV005229802]|Inborn genetic diseases [RCV000623118]|Malaria, resistance to [RCV000016575]|Malaria, susceptibility to [RCV003989286]|See cases [RCV002251908]|Sickle cell disease and related diseases [RCV001192494]|Sickle cell-hemoglobin C disease [RCV003150808]|beta Thalassemia [RCV000576548]|not provided [RCV000224000] | Chr11:5227002 [GRCh38] Chr11:5248232 [GRCh37] Chr11:11p15.4 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|protective|other|not provided |
NM_000518.4(HBB):c.275T>C (p.Leu92Pro) | single nucleotide variant | HEMOGLOBIN SABINE [RCV000016581]|not specified [RCV000508375] | Chr11:5226617 [GRCh38] Chr11:5247847 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.350A>C (p.His117Pro) | single nucleotide variant | HEMOGLOBIN SAITAMA [RCV000016583] | Chr11:5225692 [GRCh38] Chr11:5246922 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) | single nucleotide variant | Dominant beta-thalassemia [RCV002490377]|HEMOGLOBIN SAKI [RCV000016584]|beta Thalassemia [RCV001826467]|not provided [RCV000508682]|not specified [RCV001527030] | Chr11:5226978 [GRCh38] Chr11:5248208 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.328G>A (p.Val110Met) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641606]|HEMOGLOBIN SAN DIEGO [RCV000016585]|Hemoglobinopathy [RCV001553627]|beta Thalassemia [RCV000169614]|not provided [RCV003476897] | Chr11:5225714 [GRCh38] Chr11:5246944 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|other |
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV003137530]|HEMOGLOBIN SANTA ANA [RCV000016586]|not provided [RCV000757364] | Chr11:5226626 [GRCh38] Chr11:5247856 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|other |
NM_000518.4(HBB):c.74G>T (p.Gly25Val) | single nucleotide variant | HEMOGLOBIN SAVANNAH [RCV000016587] | Chr11:5226948 [GRCh38] Chr11:5248178 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.431del (p.His144fs) | deletion | HEMOGLOBIN SAVERNE [RCV000016588] | Chr11:5225611 [GRCh38] Chr11:5246841 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.212C>A (p.Ala71Asp) | single nucleotide variant | HEMOGLOBIN SEATTLE [RCV000016589] | Chr11:5226680 [GRCh38] Chr11:5247910 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.127T>G (p.Phe43Val) | single nucleotide variant | Hemolytic anemia [RCV000016590] | Chr11:5226765 [GRCh38] Chr11:5247995 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.395A>C (p.Gln132Pro) | single nucleotide variant | HEMOGLOBIN SHANGHAI [RCV000016592] | Chr11:5225647 [GRCh38] Chr11:5246877 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.394C>A (p.Gln132Lys) | single nucleotide variant | HEMOGLOBIN DEACONESS [RCV000016595]|HEMOGLOBIN LESLIE [RCV000016594]|HEMOGLOBIN SHELBY [RCV000016593]|not provided [RCV000759798]|not specified [RCV001001860] | Chr11:5225648 [GRCh38] Chr11:5246878 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance|other |
NM_000518.4(HBB):c.224G>A (p.Gly75Asp) | single nucleotide variant | HEMOGLOBIN SHEPHERDS BUSH [RCV000016596] | Chr11:5226668 [GRCh38] Chr11:5247898 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.314G>C (p.Arg105Thr) | single nucleotide variant | HEMOGLOBIN SHERWOOD FOREST [RCV000016597]|not specified [RCV000507183] | Chr11:5226578 [GRCh38] Chr11:5247808 [GRCh37] Chr11:11p15.4 |
likely benign|other |
NM_000518.4(HBB):c.332T>C (p.Leu111Pro) | single nucleotide variant | Beta-Showa-Yakushiji thalassemia [RCV000016600]|Beta-plus-thalassemia [RCV000016599]|Beta-thalassemia HBB/LCRB [RCV004689418]|HEMOGLOBIN SHOWA-YAKUSHIJI [RCV000016598]|Hb SS disease [RCV001004561]|beta Thalassemia [RCV000589517]|not provided [RCV002476975] | Chr11:5225710 [GRCh38] Chr11:5246940 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.22G>A (p.Glu8Lys) | single nucleotide variant | not provided [RCV001800303]|not specified [RCV000016602] | Chr11:5227000 [GRCh38] Chr11:5248230 [GRCh37] Chr11:11p15.4 |
pathogenic|benign|uncertain significance|other |
NM_000518.5(HBB):c.307A>T (p.Asn103Tyr) | single nucleotide variant | HEMOGLOBIN ST. MANDE [RCV000016603] | Chr11:5226585 [GRCh38] Chr11:5247815 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.44T>G (p.Leu15Arg) | single nucleotide variant | HEMOGLOBIN SOGN [RCV000016604]|beta Thalassemia [RCV001272129]|not provided [RCV000588440]|not specified [RCV005237383] | Chr11:5226978 [GRCh38] Chr11:5248208 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.320T>C (p.Leu107Pro) | single nucleotide variant | HEMOGLOBIN CASPER [RCV000016606]|HEMOGLOBIN SOUTHAMPTON [RCV000016605] | Chr11:5225722 [GRCh38] Chr11:5246952 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.71T>A (p.Val24Asp) | single nucleotide variant | HEMOGLOBIN STRASBOURG [RCV000016608]|not provided [RCV000985755] | Chr11:5226951 [GRCh38] Chr11:5248181 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.4G>A (p.Val2Met) | single nucleotide variant | HEMOGLOBIN SOUTH FLORIDA [RCV000016609]|beta Thalassemia [RCV001831572]|not provided [RCV005229803]|not specified [RCV000508674] | Chr11:5227018 [GRCh38] Chr11:5248248 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.5(HBB):c.224_229del (p.Gly75_Leu76del) | deletion | HEMOGLOBIN ST. ANTOINE [RCV000016610] | Chr11:5226663..5226668 [GRCh38] Chr11:5247893..5247898 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.86T>A (p.Leu29Gln) | single nucleotide variant | HEMOGLOBIN ST. LOUIS [RCV000016611]|Heinz body anemia [RCV000016612] | Chr11:5226936 [GRCh38] Chr11:5248166 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.157G>C (p.Asp53His) | single nucleotide variant | HEMOGLOBIN SUMMER HILL [RCV000016613]|beta Thalassemia [RCV001826468]|not provided [RCV001284630]|not specified [RCV000506716] | Chr11:5226735 [GRCh38] Chr11:5247965 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.110C>G (p.Pro37Arg) | single nucleotide variant | HEMOGLOBIN SUNNYBROOK [RCV000016614] | Chr11:5226782 [GRCh38] Chr11:5248012 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.203T>C (p.Val68Ala) | single nucleotide variant | HEMOGLOBIN SYDNEY [RCV000016615] | Chr11:5226689 [GRCh38] Chr11:5247919 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.431A>C (p.His144Pro) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641613]|HEMOGLOBIN SYRACUSE [RCV000016616]|not specified [RCV001001407] | Chr11:5225611 [GRCh38] Chr11:5246841 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.250G>T (p.Gly84Cys) | single nucleotide variant | HEMOGLOBIN TA-LI [RCV000016618]|not provided [RCV000985740] | Chr11:5226642 [GRCh38] Chr11:5247872 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV002288497]|Heinz body anemia [RCV000016620]|beta Thalassemia [RCV001831573]|not provided [RCV000985758]|not specified [RCV000016619] | Chr11:5226799 [GRCh38] Chr11:5248029 [GRCh37] Chr11:11p15.4 |
pathogenic|benign|uncertain significance|other |
NM_000518.4(HBB):c.439_440dupCA (p.Ter148Thrfs) | duplication | HEMOGLOBIN TAK [RCV000016621] | Chr11:5225602..5225603 [GRCh38] Chr11:5246832..5246833 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.361A>C (p.Lys121Gln) | single nucleotide variant | HEMOGLOBIN TAKAMATSU [RCV000016622] | Chr11:5225681 [GRCh38] Chr11:5246911 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.238G>T (p.Asp80Tyr) | single nucleotide variant | HEMOGLOBIN TAMPA [RCV000016623]|not provided [RCV001811164] | Chr11:5226654 [GRCh38] Chr11:5247884 [GRCh37] Chr11:11p15.4 |
likely benign|other |
NM_000518.4(HBB):c.221A>G (p.Asp74Gly) | single nucleotide variant | HEMOGLOBIN TILBURG [RCV000016625] | Chr11:5226671 [GRCh38] Chr11:5247901 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.170_181del (p.Gly57_Lys60del) | deletion | HEMOGLOBIN TOCHIGI [RCV000016626] | Chr11:5226711..5226722 [GRCh38] Chr11:5247941..5247952 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.262_264del (p.Thr88del) | deletion | HEMOGLOBIN TOURS [RCV000016627] | Chr11:5226628..5226630 [GRCh38] Chr11:5247858..5247860 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.427G>C (p.Ala143Pro) | single nucleotide variant | HEMOGLOBIN TOYOAKE [RCV000016628] | Chr11:5225615 [GRCh38] Chr11:5246845 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.155C>G (p.Pro52Arg) | single nucleotide variant | HEMOGLOBIN WILLAMETTE [RCV000016629] | Chr11:5226737 [GRCh38] Chr11:5247967 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.320T>A (p.Leu107Gln) | single nucleotide variant | METHEMOGLOBINEMIA, BETA TYPE [RCV000016630] | Chr11:5225722 [GRCh38] Chr11:5246952 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.374C>A (p.Pro125Gln) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641615]|HEMOGLOBIN TY GARD [RCV000016632]|not provided [RCV000759072] | Chr11:5225668 [GRCh38] Chr11:5246898 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance|other |
NM_000518.5(HBB):c.118C>G (p.Gln40Glu) | single nucleotide variant | HEMOGLOBIN VAASA [RCV000016633] | Chr11:5226774 [GRCh38] Chr11:5248004 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.220G>T (p.Asp74Tyr) | single nucleotide variant | HEMOGLOBIN VANCOUVER [RCV000016634] | Chr11:5226672 [GRCh38] Chr11:5247902 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.268A>C (p.Ser90Arg) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641619]|HEMOGLOBIN VANDERBILT [RCV000016635] | Chr11:5226624 [GRCh38] Chr11:5247854 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.371C>T (p.Thr124Ile) | single nucleotide variant | HEMOGLOBIN VILLEJUIF [RCV000016637]|beta Thalassemia [RCV001277082]|not provided [RCV003476898]|not specified [RCV000506551] | Chr11:5225671 [GRCh38] Chr11:5246901 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.83C>A (p.Ala28Asp) | single nucleotide variant | HEMOGLOBIN DRENTHE [RCV000016639]|HEMOGLOBIN VOLGA [RCV000016638]|not provided [RCV001800304] | Chr11:5226939 [GRCh38] Chr11:5248169 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.293A>T (p.His98Leu) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641622]|HEMOGLOBIN WOOD [RCV000016643]|not provided [RCV005229804] | Chr11:5226599 [GRCh38] Chr11:5247829 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|other |
NM_000518.4(HBB):c.298G>C (p.Asp100His) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641624]|HEMOGLOBIN YAKIMA [RCV000016644] | Chr11:5226594 [GRCh38] Chr11:5247824 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.181G>C (p.Val61Leu) | single nucleotide variant | HEMOGLOBIN YATSUSHIRO [RCV000016646] | Chr11:5226711 [GRCh38] Chr11:5247941 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.95T>C (p.Leu32Pro) | single nucleotide variant | HEMOGLOBIN YOKOHAMA [RCV000016647] | Chr11:5226797 [GRCh38] Chr11:5248027 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.440A>C (p.His147Pro) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641629]|HEMOGLOBIN YORK [RCV000016648] | Chr11:5225602 [GRCh38] Chr11:5246832 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.325A>G (p.Asn109Asp) | single nucleotide variant | HEMOGLOBIN YOSHIZUKA [RCV000016649] | Chr11:5225717 [GRCh38] Chr11:5246947 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.298G>T (p.Asp100Tyr) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641630]|HEMOGLOBIN YPSILANTI [RCV000016650] | Chr11:5226594 [GRCh38] Chr11:5247824 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.176C>G (p.Pro59Arg) | single nucleotide variant | Hemoglobinopathy [RCV000016651]|not provided [RCV004998092]|not specified [RCV002222352] | Chr11:5226716 [GRCh38] Chr11:5247946 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance|other |
NM_000518.4(HBB):c.64G>T (p.Asp22Tyr) | single nucleotide variant | HEMOGLOBIN YUSA [RCV000016653]|not provided [RCV000759802] | Chr11:5226958 [GRCh38] Chr11:5248188 [GRCh37] Chr11:11p15.4 |
likely benign|other |
NM_000518.4(HBB):c.191A>G (p.His64Arg) | single nucleotide variant | HEMOGLOBIN ZURICH [RCV000016654]|Hemoglobinopathy [RCV003987323]|not provided [RCV001284634] | Chr11:5226701 [GRCh38] Chr11:5247931 [GRCh37] Chr11:11p15.4 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.5(HBB):c.52A>T (p.Lys18Ter) | single nucleotide variant | Beta zero thalassemia [RCV000016655]|Beta-thalassemia HBB/LCRB [RCV002288498]|Dominant beta-thalassemia [RCV000763255]|Dominant beta-thalassemia [RCV005049356]|Dominant beta-thalassemia [RCV005400415]|Hb SS disease [RCV001004355]|beta Thalassemia [RCV000020337]|not provided [RCV000507505] | Chr11:5226970 [GRCh38] Chr11:5248200 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.118C>T (p.Gln40Ter) | single nucleotide variant | Beta zero thalassemia [RCV000016656]|Beta-thalassemia HBB/LCRB [RCV002288499]|Dominant beta-thalassemia [RCV005003361]|HBB-related disorder [RCV004532366]|Hb SS disease [RCV001004570]|Heinz body anemia [RCV002221479]|Inborn genetic diseases [RCV002336086]|Malaria, susceptibility to [RCV003987324]|alpha Thalassemia [RCV001197268]|beta Thalassemia [RCV000379715]|not provided [RCV000254827] | Chr11:5226774 [GRCh38] Chr11:5226774..5226775 [GRCh38] Chr11:5248004 [GRCh37] Chr11:5248004..5248005 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.47G>A (p.Trp16Ter) | single nucleotide variant | Beta zero thalassemia [RCV000016657]|Beta-thalassemia HBB/LCRB [RCV003985073]|Dominant beta-thalassemia [RCV005049357]|Hb SS disease [RCV001004356]|beta Thalassemia [RCV000576738]|not provided [RCV000508601] | Chr11:5226975 [GRCh38] Chr11:5248205 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.364G>T (p.Glu122Ter) | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV005430462]|Dominant beta-thalassemia [RCV000016658]|Hb SS disease [RCV001004560]|beta Thalassemia [RCV000984185]|not provided [RCV000507274] | Chr11:5225678 [GRCh38] Chr11:5246908 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) | single nucleotide variant | Beta zero thalassemia [RCV000016659]|Hemoglobinopathy [RCV000781456]|beta Thalassemia [RCV000169502]|not provided [RCV000506223] | Chr11:5226778 [GRCh38] Chr11:5248008 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.130G>T (p.Glu44Ter) | single nucleotide variant | Beta zero thalassemia [RCV000016660]|Beta-thalassemia HBB/LCRB [RCV004795419]|Dominant beta-thalassemia [RCV005049358]|Hb SS disease [RCV001004568]|Hemoglobinopathy [RCV000780310]|beta Thalassemia [RCV000665678]|not provided [RCV000506797] | Chr11:5226762 [GRCh38] Chr11:5247992 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.184A>T (p.Lys62Ter) | single nucleotide variant | Beta zero thalassemia [RCV000016661]|Dominant beta-thalassemia [RCV002504795]|beta Thalassemia [RCV001078254]|not provided [RCV000506527] | Chr11:5226708 [GRCh38] Chr11:5247938 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.108C>A (p.Tyr36Ter) | single nucleotide variant | Beta zero thalassemia [RCV000016662]|Dominant beta-thalassemia [RCV005049359]|beta Thalassemia [RCV001078304]|not provided [RCV001800305] | Chr11:5226784 [GRCh38] Chr11:5248014 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.383A>C (p.Gln128Pro) | single nucleotide variant | Beta-Houston-thalassemia [RCV000016664]|Beta-plus-thalassemia, dominant [RCV000022611]|not specified [RCV001001456] | Chr11:5225659 [GRCh38] Chr11:5246889 [GRCh37] Chr11:11p15.4 |
pathogenic|conflicting data from submitters |
NM_000518.5(HBB):c.383_385del (p.Gln128_Ala129delinsPro) | deletion | Beta-plus-thalassemia [RCV000016665] | Chr11:5225657..5225659 [GRCh38] Chr11:5246887..5246889 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.4(HBB):c.182T>A (p.Val61Glu) | single nucleotide variant | Beta-plus-thalassemia [RCV000016666]|HEMOGLOBIN CAGLIARI [RCV000016667] | Chr11:5226710 [GRCh38] Chr11:5247940 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.25_26del (p.Lys9fs) | deletion | Beta zero thalassemia [RCV000016669]|Beta-thalassemia HBB/LCRB [RCV002288500]|Dominant beta-thalassemia [RCV005049360]|HBB-related disorder [RCV004732546]|Hb SS disease [RCV001004358]|Malaria, susceptibility to [RCV003989287]|beta Thalassemia [RCV000029972]|not provided [RCV000506563] | Chr11:5226996..5226997 [GRCh38] Chr11:5248226..5248227 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.51del (p.Lys18fs) | deletion | Beta zero thalassemia [RCV000016670]|Beta-thalassemia HBB/LCRB [RCV003227603]|Dominant beta-thalassemia [RCV005003362]|HBB-related disorder [RCV004532367]|Hemoglobinopathy [RCV000590756]|Inborn genetic diseases [RCV002336087]|beta Thalassemia [RCV000173145]|not provided [RCV000724162] | Chr11:5226971 [GRCh38] Chr11:5248201 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.135del (p.Phe46fs) | deletion | Beta zero thalassemia [RCV000016671]|Beta-thalassemia HBB/LCRB [RCV004821260]|Dominant beta-thalassemia [RCV001723571]|Dominant beta-thalassemia [RCV005003363]|Malaria, susceptibility to [RCV004813042]|beta Thalassemia [RCV000169145]|not provided [RCV000507725] | Chr11:5226757 [GRCh38] Chr11:5247987 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.27dup (p.Ser10fs) | duplication | Beta zero thalassemia [RCV000016672]|Beta-thalassemia HBB/LCRB [RCV003221786]|Dominant beta-thalassemia [RCV005003405]|HBB-related disorder [RCV000368084]|Hb SS disease [RCV001004357]|Inborn genetic diseases [RCV004984649]|Malaria, susceptibility to [RCV003989106]|beta Thalassemia [RCV000029974]|not provided [RCV000479091] | Chr11:5226994..5226995 [GRCh38] Chr11:5248224..5248225 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance|no classifications from unflagged records |
NM_000518.5(HBB):c.126_129del (p.Phe42fs) | deletion | Beta zero thalassemia [RCV000016673]|Beta-thalassemia HBB/LCRB [RCV002465488]|Dominant beta-thalassemia [RCV005003364]|Dominant beta-thalassemia [RCV005400416]|Fetal hemoglobin quantitative trait locus 1 [RCV001262999]|HBB-related disorder [RCV004532368]|Hb SS disease [RCV001004569]|Hereditary persistence of fetal hemoglobin [RCV005229805]|Inborn genetic diseases [RCV002426507]|beta Thalassemia [RCV000020328]|not provided [RCV000508554] | Chr11:5226763..5226766 [GRCh38] Chr11:5247993..5247996 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.20del (p.Glu7fs) | deletion | Beta zero thalassemia [RCV000016674]|Beta-thalassemia HBB/LCRB [RCV004566746]|Dominant beta-thalassemia [RCV005003365]|Hb SS disease [RCV001004359]|beta Thalassemia [RCV000576555]|not provided [RCV001008068] | Chr11:5227002 [GRCh38] Chr11:5248232 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.230del (p.Ala77fs) | deletion | Beta zero thalassemia [RCV000016676]|beta Thalassemia [RCV000169256]|not provided [RCV000508493] | Chr11:5226662 [GRCh38] Chr11:5247892 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.17_18del (p.Pro6fs) | deletion | Beta zero thalassemia [RCV000016678]|Beta-thalassemia HBB/LCRB [RCV004566747]|Dominant beta-thalassemia [RCV005000984]|Dominant beta-thalassemia [RCV005003366]|HBB-related disorder [RCV004541006]|Hb SS disease [RCV001004360]|beta Thalassemia [RCV000586913]|not provided [RCV000506399] | Chr11:5227004..5227005 [GRCh38] Chr11:5248234..5248235 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.36del (p.Thr13fs) | deletion | Beta zero thalassemia [RCV000016679]|Hemoglobinopathy [RCV000781438]|beta Thalassemia [RCV001078331]|not provided [RCV000507506] | Chr11:5226986 [GRCh38] Chr11:5248216 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.110del (p.Pro37fs) | deletion | Beta zero thalassemia [RCV000016680]|beta Thalassemia [RCV000586096]|not provided [RCV000759790] | Chr11:5226782 [GRCh38] Chr11:5248012 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.343_344delinsG (p.Leu115fs) | indel | Beta zero thalassemia [RCV000016681] | Chr11:5225698..5225699 [GRCh38] Chr11:5246928..5246929 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.114_120del (p.Pro37_Trp38insTer) | deletion | Beta zero thalassemia [RCV000016684]|beta Thalassemia [RCV001078349]|not provided [RCV003114196] | Chr11:5226772..5226778 [GRCh38] Chr11:5248002..5248008 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.282_283dup (p.Asp95fs) | microsatellite | Beta zero thalassemia [RCV000016685]|Dominant beta-thalassemia [RCV002513069] | Chr11:5226608..5226609 [GRCh38] Chr11:5247838..5247839 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.194del (p.Gly65fs) | deletion | Beta zero thalassemia [RCV000016686]|beta Thalassemia [RCV001078257] | Chr11:5226698 [GRCh38] Chr11:5247928 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.328del (p.Val110fs) | deletion | Beta zero thalassemia [RCV000016687]|HEMOGLOBIN MANHATTAN [RCV002284171] | Chr11:5225714 [GRCh38] Chr11:5246944 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.112del (p.Trp38fs) | deletion | Beta zero thalassemia [RCV000016688]|Dominant beta-thalassemia [RCV005003367]|Hb SS disease [RCV001004345]|Hemoglobinopathy [RCV000781455]|beta Thalassemia [RCV001078307]|not provided [RCV000508367] | Chr11:5226780 [GRCh38] Chr11:5248010 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.216dup (p.Ser73Ter) | duplication | Beta zero thalassemia [RCV000016690]|beta Thalassemia [RCV001078312] | Chr11:5226675..5226676 [GRCh38] Chr11:5247905..5247906 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.2T>G (p.Met1Arg) | single nucleotide variant | Beta zero thalassemia [RCV000016691]|Beta-thalassemia HBB/LCRB [RCV005430107]|Dominant beta-thalassemia [RCV005049363]|Hb SS disease [RCV001004361]|beta Thalassemia [RCV000664667]|not provided [RCV000505904] | Chr11:5227020 [GRCh38] Chr11:5248250 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.2T>C (p.Met1Thr) | single nucleotide variant | Beta zero thalassemia [RCV000016692]|Beta-thalassemia HBB/LCRB [RCV002465492]|Beta-thalassemia, lermontov type [RCV000016693]|Dominant beta-thalassemia [RCV005049390]|beta Thalassemia [RCV000029976]|not provided [RCV000508042] | Chr11:5227020 [GRCh38] Chr11:5248250 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.92+1G>A | single nucleotide variant | Beta zero thalassemia [RCV000016694]|Beta-thalassemia HBB/LCRB [RCV002288501]|Dominant beta-thalassemia [RCV004819209]|Dominant beta-thalassemia [RCV005003368]|Dominant beta-thalassemia [RCV005051735]|Erythrocytosis, familial, 6 [RCV005357131]|Fetal hemoglobin quantitative trait locus 1 [RCV001329338]|Hb SS disease [RCV001004350]|Inborn genetic diseases [RCV004975260]|beta Thalassemia [RCV000020340]|not provided [RCV000390929] | Chr11:5226929 [GRCh38] Chr11:5248159 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.92+1G>T | single nucleotide variant | Beta zero thalassemia [RCV000016695]|Beta-thalassemia HBB/LCRB [RCV004689419]|Dominant beta-thalassemia [RCV005003369]|HBB-related disorder [RCV004532369]|Hb SS disease [RCV001004349]|Inborn genetic diseases [RCV002444432]|beta Thalassemia [RCV000169505]|not provided [RCV000507580] | Chr11:5226929 [GRCh38] Chr11:5248159 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.315+1G>A | single nucleotide variant | Beta zero thalassemia [RCV000016696]|Beta-thalassemia HBB/LCRB [RCV002288502]|Dominant beta-thalassemia [RCV001723572]|Dominant beta-thalassemia [RCV005003370]|Erythrocytosis, familial, 6 [RCV005357132]|Hb SS disease [RCV001004566]|Malaria, susceptibility to [RCV003987325]|beta Thalassemia [RCV000020332]|not provided [RCV000255349]|not specified [RCV001731303] | Chr11:5226576 [GRCh38] Chr11:5247806 [GRCh37] Chr11:11p15.4 |
pathogenic |
HBB, IVS1, T-G, +2 | single nucleotide variant | beta^0^ Thalassemia [RCV000016697] | Chr11:11p15.5 | pathogenic |
HBB, IVS2, T-C, +2 | single nucleotide variant | beta^0^ Thalassemia [RCV000016698] | Chr11:11p15.5 | pathogenic |
NM_000518.5(HBB):c.93-17_93-1del | deletion | Beta zero thalassemia [RCV000016699]|beta Thalassemia [RCV001078335] | Chr11:5226800..5226816 [GRCh38] Chr11:5248030..5248046 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.93-22_95del | deletion | Beta zero thalassemia [RCV000016700]|Beta-thalassemia HBB/LCRB [RCV002465489]|Inborn genetic diseases [RCV002371773]|Malaria, susceptibility to [RCV003989288]|beta Thalassemia [RCV000030009]|not provided [RCV001052793]|not specified [RCV001731304] | Chr11:5226797..5226821 [GRCh38] Chr11:5248027..5248051 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|no classifications from unflagged records |
HBB, IVS2, A-G, -2 | single nucleotide variant | beta^0^ Thalassemia [RCV000016701] | Chr11:11p15.5 | pathogenic |
HBB, IVS2, A-C, -2 | single nucleotide variant | beta^0^ Thalassemia [RCV000016702] | Chr11:11p15.5 | pathogenic |
NM_000518.5(HBB):c.76_92+27del | deletion | Beta zero thalassemia [RCV000016703]|Hemoglobinopathy [RCV003317038]|beta Thalassemia [RCV001078435] | Chr11:5226903..5226946 [GRCh38] Chr11:5248133..5248176 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.93-1G>A | single nucleotide variant | Beta zero thalassemia [RCV000016704]|Dominant beta-thalassemia [RCV005049364]|beta Thalassemia [RCV000587419]|not provided [RCV000508208] | Chr11:5226800 [GRCh38] Chr11:5248030 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.92+5G>C | single nucleotide variant | Beta-plus-thalassemia [RCV000016705]|Beta-thalassemia HBB/LCRB [RCV002288503]|Beta-thalassemia major [RCV001794453]|Dominant beta-thalassemia [RCV000763253]|Dominant beta-thalassemia [RCV004814907]|Dominant beta-thalassemia [RCV005049365]|HBB-related disorder [RCV004732547]|Hb SS disease [RCV001004348]|Hemoglobin E/beta- thalassemia [RCV005252684]|Hereditary persistence of fetal hemoglobin [RCV003445071]|Inborn genetic diseases [RCV002444433]|Malaria, susceptibility to [RCV003987326]|beta Thalassemia [RCV000020341]|not provided [RCV000255746] | Chr11:5226925 [GRCh38] Chr11:5248155 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.92+5G>T | single nucleotide variant | Beta-plus-thalassemia [RCV000016706]|Beta-thalassemia HBB/LCRB [RCV005430463]|Dominant beta-thalassemia [RCV005049366]|beta Thalassemia [RCV000984182]|not provided [RCV000505898] | Chr11:5226925 [GRCh38] Chr11:5248155 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.92+5G>A | single nucleotide variant | Beta-plus-thalassemia [RCV000016707]|Dominant beta-thalassemia [RCV005049367]|Hb SS disease [RCV005252685]|beta Thalassemia [RCV000030004]|not provided [RCV001216321] | Chr11:5226925 [GRCh38] Chr11:5248155 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
NM_000518.5(HBB):c.92+6T>C | single nucleotide variant | Beta thalassemia intermedia [RCV005406746]|Beta-plus-thalassemia [RCV000016708]|Beta-thalassemia HBB/LCRB [RCV004566748]|Dominant beta-thalassemia [RCV000763252]|Dominant beta-thalassemia [RCV005049368]|Erythrocytosis, familial, 6 [RCV005357133]|HBB-related disorder [RCV004532370]|Hb SS disease [RCV001004347]|Heinz body anemia [RCV002247349]|Inborn genetic diseases [RCV002371774]|Malaria, susceptibility to [RCV003988822]|beta Thalassemia [RCV000415353]|not provided [RCV000417932] | Chr11:5226924 [GRCh38] Chr11:5248154 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.316-3C>A | single nucleotide variant | Beta thalassemia intermedia [RCV000029987]|Beta-plus-thalassemia [RCV000016709]|Beta-thalassemia HBB/LCRB [RCV005430464]|Dominant beta-thalassemia [RCV002496382]|HBB-related disorder [RCV004528115]|beta Thalassemia [RCV000984183]|not provided [RCV000506607] | Chr11:5225729 [GRCh38] Chr11:5246959 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
HBB, IVS1, T-G, -3 | single nucleotide variant | Beta-plus-thalassemia [RCV000016710] | Chr11:11p15.5 | pathogenic |
NM_000518.5(HBB):c.316-8T>G | single nucleotide variant | Beta-plus-thalassemia [RCV000016711]|beta Thalassemia [RCV001078323]|not provided [RCV003556030] | Chr11:5225734 [GRCh38] Chr11:5246964 [GRCh37] Chr11:11p15.4 |
pathogenic|likely benign |
NM_000518.5(HBB):c.93-21G>A | single nucleotide variant | Beta-plus-thalassemia [RCV000016712]|Beta-thalassemia HBB/LCRB [RCV002288504]|Beta-thalassemia major [RCV000030008]|Dominant beta-thalassemia [RCV000763251]|Dominant beta-thalassemia [RCV005049369]|Erythrocytosis, familial, 6 [RCV005357134]|Fetal hemoglobin quantitative trait locus 1 [RCV001262998]|Hb SS disease [RCV001004346]|Inborn genetic diseases [RCV002371775]|Malaria, susceptibility to [RCV003989289]|beta Thalassemia [RCV000020343]|not provided [RCV000799079] | Chr11:5226820 [GRCh38] Chr11:5248050 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
HBB, IVS1, T-G, +16 | single nucleotide variant | beta0^ Thalassemia [RCV000016713]|beta^0^ Thalassemia [RCV000016713] | Chr11:11p15.5 | pathogenic |
HBB, IVS2, T-G, +705 | single nucleotide variant | Beta-plus-thalassemia [RCV000016714] | Chr11:11p15.5 | pathogenic |
NM_000518.5(HBB):c.316-106C>G | single nucleotide variant | Beta-plus-thalassemia [RCV000016715]|Beta-thalassemia HBB/LCRB [RCV002288505]|Dominant beta-thalassemia [RCV002272021]|Dominant beta-thalassemia [RCV005003371]|Erythrocytosis, familial, 6 [RCV005357135]|HBB-related disorder [RCV004732548]|Hb SS disease [RCV001004564]|beta Thalassemia [RCV000029978]|not provided [RCV000506445] | Chr11:5225832 [GRCh38] Chr11:5247062 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.316-197C>T | single nucleotide variant | Beta zero thalassemia [RCV000016716]|Beta-thalassemia major [RCV000029984]|Dominant beta-thalassemia [RCV005049370]|HBB-related disorder [RCV004532371]|Hb SS disease [RCV001004565]|beta Thalassemia [RCV000020334]|not provided [RCV000794203] | Chr11:5225923 [GRCh38] Chr11:5247153 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.75T>A (p.Gly25=) | single nucleotide variant | Beta-plus-thalassemia [RCV000016717]|Dominant beta-thalassemia [RCV002496383]|Hb SS disease [RCV001004354]|beta Thalassemia [RCV000030002]|not provided [RCV000508672] | Chr11:5226947 [GRCh38] Chr11:5248177 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NC_000011.10:g.5227159G>A | single nucleotide variant | Beta-plus-thalassemia [RCV000016718]|Dominant beta-thalassemia [RCV005049371]|Hemoglobinopathy [RCV000781453]|Inborn genetic diseases [RCV002390113]|beta Thalassemia [RCV000020324]|not provided [RCV000507151] | Chr11:5227159 [GRCh38] Chr11:5248389 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NC_000011.10:g.5227172G>A | single nucleotide variant | Beta-plus-thalassemia [RCV000016719]|Beta-thalassemia HBB/LCRB [RCV004566749]|Dominant beta-thalassemia [RCV005003372]|HBB-related disorder [RCV004532372]|Malaria, susceptibility to [RCV003989290]|beta Thalassemia [RCV000169081]|not provided [RCV000820736] | Chr11:5227172 [GRCh38] Chr11:5248402 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance|no classifications from unflagged records |
NM_000518.5(HBB):c.-142C>T | single nucleotide variant | Beta thalassemia intermedia [RCV000589915]|Beta-plus-thalassemia [RCV000016720]|Dominant beta-thalassemia [RCV005049372]|beta Thalassemia [RCV000445639]|not provided [RCV003476899] | Chr11:5227163 [GRCh38] Chr11:5248393 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|uncertain significance|not provided |
HBB, -88C-A | single nucleotide variant | Beta-plus-thalassemia [RCV000016721] | Chr11:11p15.5 | pathogenic |
NM_000518.5(HBB):c.-137C>G | single nucleotide variant | Beta thalassemia intermedia [RCV000029951]|Beta-plus-thalassemia [RCV000016722]|Dominant beta-thalassemia [RCV002496385]|beta Thalassemia [RCV000445653]|not provided [RCV000507653] | Chr11:5227158 [GRCh38] Chr11:5248388 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NC_000011.10:g.5227157G>C | single nucleotide variant | Beta-plus-thalassemia [RCV000016723]|Beta-thalassemia HBB/LCRB [RCV004689420]|beta Thalassemia [RCV000029948]|not provided [RCV000505925] | Chr11:5227157 [GRCh38] Chr11:5248387 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.-81A>G | single nucleotide variant | Beta thalassemia intermedia [RCV001255596]|Beta-plus-thalassemia [RCV000016724]|Dominant beta-thalassemia [RCV005049373]|beta Thalassemia [RCV000445643]|not provided [RCV000506722] | Chr11:5227102 [GRCh38] Chr11:5248332 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.5227101A>T | single nucleotide variant | Beta-plus-thalassemia [RCV000016725]|beta Thalassemia [RCV000029962]|not provided [RCV000508486]|not specified [RCV001000147] | Chr11:5227101 [GRCh38] Chr11:5248331 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
HBB, -30T-C, PROMOTER | single nucleotide variant | Beta-plus-thalassemia [RCV000016726] | Chr11:11p15.5 | pathogenic |
NC_000011.10:g.5227100T>C | single nucleotide variant | Beta-plus-thalassemia [RCV000016727]|Dominant beta-thalassemia [RCV005003373]|Heinz body anemia [RCV002247350]|Inborn genetic diseases [RCV002415420]|beta Thalassemia [RCV000020326]|not provided [RCV000810653] | Chr11:5227100 [GRCh38] Chr11:5248330 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.-78A>C | single nucleotide variant | Beta-plus-thalassemia [RCV000016728]|Beta-thalassemia HBB/LCRB [RCV005430108]|Dominant beta-thalassemia [RCV005003374]|Hb SS disease [RCV001004363]|beta Thalassemia [RCV000589656]|not provided [RCV000508592] | Chr11:5227099 [GRCh38] Chr11:5248329 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.-78A>G | single nucleotide variant | Beta-plus-thalassemia [RCV000016729]|Beta-thalassemia HBB/LCRB [RCV004795422]|Dominant beta-thalassemia [RCV005049374]|Hb SS disease [RCV001004362]|beta Thalassemia [RCV000029960]|not provided [RCV000506257] | Chr11:5227099 [GRCh38] Chr11:5248329 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
HBB, 3-UNT, T-C, +3 | single nucleotide variant | Beta-plus-thalassemia [RCV000016730] | Chr11:11p15.5 | pathogenic |
NM_000518.5(HBB):c.*113A>G | single nucleotide variant | Beta-plus-thalassemia [RCV000016731]|Beta-thalassemia HBB/LCRB [RCV005430109]|beta Thalassemia [RCV000445642]|not provided [RCV002513070] | Chr11:5225485 [GRCh38] Chr11:5246715 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.*116del | deletion | Beta-plus-thalassemia [RCV000016732] | Chr11:5225482 [GRCh38] Chr11:5246712 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.*110_*111insG | insertion | Beta-plus-thalassemia [RCV000016733] | Chr11:5225487..5225488 [GRCh38] Chr11:5246717..5246718 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.*112A>G | single nucleotide variant | Beta-plus-thalassemia [RCV000016734]|beta Thalassemia [RCV005055516] | Chr11:5225486 [GRCh38] Chr11:5246716 [GRCh37] Chr11:11p15.4 |
pathogenic |
HBB, CAP, A-C | single nucleotide variant | Beta-plus-thalassemia [RCV000016735] | Chr11:11p15.5 | pathogenic |
NM_000518.5(HBB):c.425_433del (p.Leu142_Lys145delinsGln) | deletion | HEMOGLOBIN BIRMINGHAM [RCV000016736] | Chr11:5225609..5225617 [GRCh38] Chr11:5246839..5246847 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.293_295del (p.His98_Val99delinsLeu) | deletion | HEMOGLOBIN GALICIA [RCV000016737] | Chr11:5226597..5226599 [GRCh38] Chr11:5247827..5247829 [GRCh37] Chr11:11p15.4 |
other |
HBB, IVS1, T-A, +2 | single nucleotide variant | beta^0^ Thalassemia [RCV000016739] | Chr11:11p15.5 | pathogenic |
NM_000518.5(HBB):c.380T>G (p.Val127Gly) | single nucleotide variant | Beta thalassemia intermedia [RCV001260263]|Beta-thalassemia HBB/LCRB [RCV005430465]|Hemoglobinopathy [RCV000016741]|beta Thalassemia [RCV000674175]|not provided [RCV000756239] | Chr11:5225662 [GRCh38] Chr11:5246892 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|other |
NM_000518.4(HBB):c.359G>C (p.Gly120Ala) | single nucleotide variant | HEMOGLOBIN IOWA [RCV000016743] | Chr11:5225683 [GRCh38] Chr11:5246913 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.343C>A (p.Leu115Met) | single nucleotide variant | HEMOGLOBIN ZENGCHENG [RCV000016745] | Chr11:5225699 [GRCh38] Chr11:5246929 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.320T>G (p.Leu107Arg) | single nucleotide variant | Beta-plus-thalassemia [RCV000016747]|HEMOGLOBIN TERRE HAUTE [RCV000016746] | Chr11:5225722 [GRCh38] Chr11:5246952 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.*111A>G | single nucleotide variant | Beta-plus-thalassemia [RCV000016748]|Beta-thalassemia HBB/LCRB [RCV004566750]|Hemoglobinopathy [RCV001193152]|beta Thalassemia [RCV000445654]|not provided [RCV000506983] | Chr11:5225487 [GRCh38] Chr11:5246717 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) | single nucleotide variant | Dominant beta-thalassemia [RCV002504798]|HEMOGLOBIN VALLETTA [RCV000016749]|beta Thalassemia [RCV000029973]|not specified [RCV000508492] | Chr11:5226630 [GRCh38] Chr11:5247860 [GRCh37] Chr11:11p15.4 |
benign|likely benign|uncertain significance|other |
NM_000518.4(HBB):c.86T>G (p.Leu29Arg) | single nucleotide variant | HEMOGLOBIN CHESTERFIELD [RCV000016751] | Chr11:5226936 [GRCh38] Chr11:5248166 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.-82C>A | single nucleotide variant | Beta-plus-thalassemia [RCV000016752]|beta Thalassemia [RCV001078344]|not specified [RCV003155028] | Chr11:5227103 [GRCh38] Chr11:5248333 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance |
NM_000518.4(HBB):c.263C>T (p.Thr88Ile) | single nucleotide variant | not provided [RCV005229806]|not specified [RCV000016753] | Chr11:5226629 [GRCh38] Chr11:5247859 [GRCh37] Chr11:11p15.4 |
likely pathogenic|benign|other |
NM_000518.4(HBB):c.277C>A (p.His93Asn) | single nucleotide variant | Hemoglobinopathy [RCV000016756] | Chr11:5226615 [GRCh38] Chr11:5247845 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.441C>A (p.His147Gln) | single nucleotide variant | HEMOGLOBIN KODAIRA [RCV000016760] | Chr11:5225601 [GRCh38] Chr11:5246831 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.221_227delinsCTCGGTGCCA (p.Asp74_Leu76delinsAlaArgCysGln) | indel | HEMOGLOBIN MONTREAL [RCV000016761] | Chr11:5226665..5226671 [GRCh38] Chr11:5247895..5247901 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.52A>C (p.Lys18Gln) | single nucleotide variant | HEMOGLOBIN NIKOSIA [RCV000016762] | Chr11:5226970 [GRCh38] Chr11:5248200 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.365A>G (p.Glu122Gly) | single nucleotide variant | HEMOGLOBIN ST. FRANCIS [RCV000016763]|not specified [RCV005417432] | Chr11:5225677 [GRCh38] Chr11:5246907 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.338G>A (p.Cys113Tyr) | single nucleotide variant | HEMOGLOBIN YAHATA [RCV000016764] | Chr11:5225704 [GRCh38] Chr11:5246934 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.430C>G (p.His144Asp) | single nucleotide variant | HEMOGLOBIN RANCHO MIRAGE [RCV000016765] | Chr11:5225612 [GRCh38] Chr11:5246842 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.271G>T (p.Glu91Ter) | single nucleotide variant | Beta zero thalassemia [RCV000016766]|beta Thalassemia [RCV001078368]|not provided [RCV003556031] | Chr11:5226621 [GRCh38] Chr11:5247851 [GRCh37] Chr11:11p15.4 |
pathogenic |
HBB, IVS2AS, -3, C-G | single nucleotide variant | beta0^ Thalassemia [RCV000016767]|beta^0^ Thalassemia [RCV000016767] | Chr11:11p15.5 | pathogenic |
NM_000518.5(HBB):c.*110_*114del | deletion | Beta-plus-thalassemia [RCV000016768]|beta Thalassemia [RCV001078299]|not provided [RCV004998093] | Chr11:5225484..5225488 [GRCh38] Chr11:5246714..5246718 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
HBB, IVS1AS, G-C, -1 | single nucleotide variant | beta^0^ Thalassemia [RCV000016769] | Chr11:11p15.5 | pathogenic |
NM_000518.5(HBB):c.4del (p.Val2fs) | deletion | Beta zero thalassemia [RCV000016770]|beta Thalassemia [RCV001078428] | Chr11:5227018 [GRCh38] Chr11:5248248 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.94C>G (p.Leu32Val) | single nucleotide variant | HEMOGLOBIN MUSCAT [RCV000016771] | Chr11:5226798 [GRCh38] Chr11:5248028 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.146T>C (p.Leu49Pro) | single nucleotide variant | HEMOGLOBIN BAB-SAADOUN [RCV000016772] | Chr11:5226746 [GRCh38] Chr11:5247976 [GRCh37] Chr11:11p15.4 |
other |
HBB, 1-BP DEL, -G, CODON 109 | deletion | HEMOGLOBIN MANHATTAN [RCV000016773] | Chr11:11p15.5 | other |
NM_000518.5(HBB):c.316-1G>C | single nucleotide variant | Beta zero thalassemia [RCV000016774]|beta Thalassemia [RCV001078268]|not provided [RCV001800306] | Chr11:5225727 [GRCh38] Chr11:5246957 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.-140C>T | single nucleotide variant | Beta thalassemia intermedia [RCV000202364]|Beta-plus-thalassemia [RCV000016778]|Beta-thalassemia HBB/LCRB [RCV002288506]|Dominant beta-thalassemia [RCV005049376]|HBB-related disorder [RCV002260510]|beta Thalassemia [RCV000029954]|not provided [RCV001069376] | Chr11:5227161 [GRCh38] Chr11:5248391 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_000518.5(HBB):c.315+4_315+5del | deletion | Beta-thalassemia intermedia, dominant [RCV000016779]|beta Thalassemia [RCV001078289] | Chr11:5226572..5226573 [GRCh38] Chr11:5247802..5247803 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.4(HBB):c.8A>T (p.His3Leu) | single nucleotide variant | HEMOGLOBIN GRAZ [RCV000016782] | Chr11:5227014 [GRCh38] Chr11:5248244 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.3G>A (p.Met1Ile) | single nucleotide variant | Beta zero thalassemia [RCV000016783]|Dominant beta-thalassemia [RCV002222353]|beta Thalassemia [RCV001078376]|not provided [RCV000508308]|not specified [RCV000506641] | Chr11:5227019 [GRCh38] Chr11:5248249 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.4(HBB):c.64G>C (p.Asp22His) | single nucleotide variant | HEMOGLOBIN KARLSKOGA [RCV000016784] | Chr11:5226958 [GRCh38] Chr11:5248188 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.250G>C (p.Gly84Arg) | single nucleotide variant | HEMOGLOBIN MUSKEGON [RCV000016785]|not provided [RCV001283988] | Chr11:5226642 [GRCh38] Chr11:5247872 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.238G>C (p.Asp80His) | single nucleotide variant | HEMOGLOBIN TIGRAYE [RCV000016786]|not specified [RCV001001454] | Chr11:5226654 [GRCh38] Chr11:5247884 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.395A>G (p.Gln132Arg) | single nucleotide variant | HEMOGLOBIN SARREBOURG [RCV000016787] | Chr11:5225647 [GRCh38] Chr11:5246877 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.310T>A (p.Phe104Ile) | single nucleotide variant | HEMOGLOBIN SAINT NAZAIRE [RCV000016788] | Chr11:5226582 [GRCh38] Chr11:5247812 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.315G>C (p.Arg105Ser) | single nucleotide variant | Hb camperdown [RCV000016789]|not provided [RCV004998094]|not specified [RCV005406747] | Chr11:5226577 [GRCh38] Chr11:5247807 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance |
NM_000518.4(HBB):c.203T>G (p.Val68Gly) | single nucleotide variant | HEMOGLOBIN MANUKAU [RCV000016792]|not provided [RCV002466407] | Chr11:5226689 [GRCh38] Chr11:5247919 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.269G>C (p.Ser90Thr) | single nucleotide variant | HEMOGLOBIN VILLAVERDE [RCV000016793] | Chr11:5226623 [GRCh38] Chr11:5247853 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.112T>G (p.Trp38Gly) | single nucleotide variant | HEMOGLOBIN HOWICK [RCV000016794]|not provided [RCV004998095] | Chr11:5226780 [GRCh38] Chr11:5248010 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.125T>C (p.Phe42Ser) | single nucleotide variant | HEMOGLOBIN DENVER [RCV000016795]|not provided [RCV000587370] | Chr11:5226767 [GRCh38] Chr11:5247997 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.407C>A (p.Ala136Asp) | single nucleotide variant | HEMOGLOBIN BECKMAN [RCV000016796] | Chr11:5225635 [GRCh38] Chr11:5246865 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.99GGT[1] (p.Val35del) | microsatellite | Beta-thalassemia HBB/LCRB [RCV004786267]|HEMOGLOBIN KOREA [RCV000016797] | Chr11:5226788..5226790 [GRCh38] Chr11:5248018..5248020 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.365A>C (p.Glu122Ala) | single nucleotide variant | HEMOGLOBIN D (NEATH) [RCV000016799] | Chr11:5225677 [GRCh38] Chr11:5246907 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.34G>T (p.Val12Phe) | single nucleotide variant | HEMOGLOBIN WASHTENAW [RCV000016800]|not provided [RCV000759071] | Chr11:5226988 [GRCh38] Chr11:5248218 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.383A>G (p.Gln128Arg) | single nucleotide variant | HEMOGLOBIN DIEPPE [RCV000016802]|beta Thalassemia [RCV001078371] | Chr11:5225659 [GRCh38] Chr11:5246889 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.74GTG[1] (p.Gly26del) | microsatellite | HEMOGLOBIN HIGASHITOCHIGI [RCV000016803]|HEMOGLOBIN HT [RCV000016804] | Chr11:5226943..5226945 [GRCh38] Chr11:5248173..5248175 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.62T>A (p.Val21Glu) | single nucleotide variant | HEMOGLOBIN TROLLHAETTAN [RCV000016805] | Chr11:5226960 [GRCh38] Chr11:5248190 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.16C>T (p.Pro6Ser) | single nucleotide variant | HEMOGLOBIN TYNE [RCV000016806]|beta Thalassemia [RCV001826470]|not provided [RCV000756240]|not specified [RCV002271370] | Chr11:5227006 [GRCh38] Chr11:5248236 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
HBB, IVS2AS, G-A, -1 | single nucleotide variant | beta^0^ Thalassemia [RCV000016809] | Chr11:11p15.5 | pathogenic |
NM_000518.5(HBB):c.95T>G (p.Leu32Arg) | single nucleotide variant | HEMOGLOBIN HAKKARI [RCV000016810] | Chr11:5226797 [GRCh38] Chr11:5248027 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.422C>T (p.Ala141Val) | single nucleotide variant | HEMOGLOBIN PUTTELANGE [RCV000016811]|Hemoglobinopathy [RCV003234910] | Chr11:5225620 [GRCh38] Chr11:5246850 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.137T>G (p.Phe46Cys) | single nucleotide variant | Dominant beta-thalassemia [RCV005049377]|HEMOGLOBIN ARTA [RCV000016812] | Chr11:5226755 [GRCh38] Chr11:5247985 [GRCh37] Chr11:11p15.4 |
likely pathogenic|other |
NM_000518.4(HBB):c.418A>T (p.Asn140Tyr) | single nucleotide variant | HEMOGLOBIN AURORA [RCV000016813] | Chr11:5225624 [GRCh38] Chr11:5246854 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.26A>T (p.Lys9Met) | single nucleotide variant | HEMOGLOBIN NAKANO [RCV000016814] | Chr11:5226996 [GRCh38] Chr11:5248226 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.116C>A (p.Thr39Asn) | single nucleotide variant | HEMOGLOBIN HINWIL [RCV000016815]|not provided [RCV004767009] | Chr11:5226776 [GRCh38] Chr11:5248006 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.117_118del (p.Gln40fs) | deletion | beta Thalassemia [RCV000016817] | Chr11:5226774..5226775 [GRCh38] Chr11:5248004..5248005 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.4(HBB):c.247A>C (p.Lys83Gln) | single nucleotide variant | HEMOGLOBIN TSURUMAI [RCV000016818] | Chr11:5226645 [GRCh38] Chr11:5247875 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.80A>G (p.Glu27Gly) | single nucleotide variant | Hb aubenas [RCV000016820] | Chr11:5226942 [GRCh38] Chr11:5248172 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.93-1_94dup | duplication | Beta-thalassemia dominant [RCV000016821] | Chr11:5226797..5226798 [GRCh38] Chr11:5248027..5248028 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.233A>G (p.His78Arg) | single nucleotide variant | HEMOGLOBIN COSTA RICA [RCV000016822] | Chr11:5226659 [GRCh38] Chr11:5247889 [GRCh37] Chr11:11p15.4 |
other |
HBB, 1-BP INS, CODON 20/21, FS | insertion | Beta-thalassemia, Ashkenazi Jewish type [RCV000016823] | Chr11:11p15.5 | pathogenic |
NM_000518.5(HBB):c.4G>T (p.Val2Leu) | single nucleotide variant | Dominant beta-thalassemia [RCV005049378]|Hb niigata [RCV000016824] | Chr11:5227018 [GRCh38] Chr11:5248248 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance |
NM_000518.4(HBB):c.158A>G (p.Asp53Gly) | single nucleotide variant | HEMOGLOBIN HOKUSETSU [RCV000016825] | Chr11:5226734 [GRCh38] Chr11:5247964 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.217_221delinsT (p.Ser73fs) | indel | Beta zero thalassemia [RCV000016826]|beta Thalassemia [RCV001078313] | Chr11:5226671..5226675 [GRCh38] Chr11:5247901..5247905 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.4(HBB):c.247A>G (p.Lys83Glu) | single nucleotide variant | Hb gambara [RCV000016827] | Chr11:5226645 [GRCh38] Chr11:5247875 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.93-2A>G | single nucleotide variant | Beta zero thalassemia [RCV000016828]|beta Thalassemia [RCV000988481]|not provided [RCV003476900] | Chr11:5226801 [GRCh38] Chr11:5248031 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.79_80insT (p.Glu27fs) | insertion | Beta zero thalassemia [RCV000016829]|beta Thalassemia [RCV001078437] | Chr11:5226942..5226943 [GRCh38] Chr11:5248172..5248173 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.4(HBB):c.430C>T (p.His144Tyr) | single nucleotide variant | not provided [RCV001811165]|not specified [RCV000016831] | Chr11:5225612 [GRCh38] Chr11:5246842 [GRCh37] Chr11:11p15.4 |
benign|likely benign|other |
NM_000518.5(HBB):c.100G>A (p.Val34Met) | single nucleotide variant | HEMOGLOBIN RIO CLARO [RCV000016833]|not specified [RCV000781454] | Chr11:5226792 [GRCh38] Chr11:5248022 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.415_417del (p.Ala139del) | deletion | HEMOGLOBIN NIJKERK [RCV000016834]|not provided [RCV000132763] | Chr11:5225625..5225627 [GRCh38] Chr11:5246855..5246857 [GRCh37] Chr11:11p15.4 |
other|not provided |
NM_000518.5(HBB):c.85C>A (p.Leu29Met) | single nucleotide variant | HEMOGLOBIN CHILE [RCV000016835] | Chr11:5226937 [GRCh38] Chr11:5248167 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.374C>T (p.Pro125Leu) | single nucleotide variant | HEMOGLOBIN TENDE [RCV000016836]|not provided [RCV000759073]|not specified [RCV001000143] | Chr11:5225668 [GRCh38] Chr11:5246898 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.245T>A (p.Leu82His) | single nucleotide variant | HEMOGLOBIN LA ROCHE-SUR-YON [RCV000016837] | Chr11:5226647 [GRCh38] Chr11:5247877 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.32C>T (p.Ala11Val) | single nucleotide variant | HEMOGLOBIN IRAQ-HALABJA [RCV000016838] | Chr11:5226990 [GRCh38] Chr11:5248220 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.26A>G (p.Lys9Arg) | single nucleotide variant | HEMOGLOBIN LUCKNOW [RCV000016839] | Chr11:5226996 [GRCh38] Chr11:5248226 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.356T>G (p.Phe119Cys) | single nucleotide variant | HEMOGLOBIN HARROW [RCV000016841] | Chr11:5225686 [GRCh38] Chr11:5246916 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.109C>G (p.Pro37Ala) | single nucleotide variant | HEMOGLOBIN BRIE COMTE ROBERT [RCV000016842] | Chr11:5226783 [GRCh38] Chr11:5248013 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.434A>T (p.Lys145Met) | single nucleotide variant | HEMOGLOBIN BARBIZON [RCV000016843] | Chr11:5225608 [GRCh38] Chr11:5246838 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.439C>T (p.His147Tyr) | single nucleotide variant | HEMOGLOBIN BOLOGNA-ST. ORSOLA [RCV000016844] | Chr11:5225603 [GRCh38] Chr11:5246833 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.110C>A (p.Pro37His) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV001029750]|HEMOGLOBIN VILA REAL [RCV000016845]|Hypertrophic cardiomyopathy 26 [RCV003886362] | Chr11:5226782 [GRCh38] Chr11:5248012 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance|other |
NM_000518.5(HBB):c.367T>C (p.Phe123Leu) | single nucleotide variant | HEMOGLOBIN BUSHEY [RCV000016847] | Chr11:5225675 [GRCh38] Chr11:5246905 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.349C>T (p.His117Tyr) | single nucleotide variant | HEMOGLOBIN TSUKUMI [RCV000016849] | Chr11:5225693 [GRCh38] Chr11:5246923 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.386C>T (p.Ala129Val) | single nucleotide variant | HEMOGLOBIN SITIA [RCV000016850]|not specified [RCV003230367] | Chr11:5225656 [GRCh38] Chr11:5246886 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.371C>A (p.Thr124Asn) | single nucleotide variant | Dominant beta-thalassemia [RCV002482877]|HEMOGLOBIN ERNZ [RCV000016851]|beta Thalassemia [RCV001563767]|not specified [RCV001778656] | Chr11:5225671 [GRCh38] Chr11:5246901 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.-151C>G | single nucleotide variant | Beta-plus-thalassemia [RCV000016853]|Dominant beta-thalassemia [RCV005049379] | Chr11:5227172 [GRCh38] Chr11:5248402 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.5T>G (p.Val2Gly) | single nucleotide variant | HEMOGLOBIN WATFORD [RCV000016854] | Chr11:5227017 [GRCh38] Chr11:5248247 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.404T>C (p.Val135Ala) | single nucleotide variant | HEMOGLOBIN YAOUNDE [RCV000016855]|beta Thalassemia [RCV001835629]|not provided [RCV000588829]|not specified [RCV000855596] | Chr11:5225638 [GRCh38] Chr11:5246868 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.4(HBB):c.385G>C (p.Ala129Pro) | single nucleotide variant | HEMOGLOBIN MONT SAINT-AIGNAN [RCV000016856] | Chr11:5225657 [GRCh38] Chr11:5246887 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.17del (p.Pro6fs) | deletion | HEMOGLOBIN ANTALYA [RCV000016859] | Chr11:5227005 [GRCh38] Chr11:5248235 [GRCh37] Chr11:11p15.4 |
other |
chr11:g.(LOH11A_HBB)del | deletion | Thalassemia intermedia [RCV000016861] | Chr11:11p15.4 | pathogenic |
NM_000518.4(HBB):c.338G>T (p.Cys113Phe) | single nucleotide variant | HEMOGLOBIN CANTERBURY [RCV000016862] | Chr11:5225704 [GRCh38] Chr11:5246934 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.125T>G (p.Phe42Cys) | single nucleotide variant | HEMOGLOBIN ILMENAU [RCV000016865] | Chr11:5226767 [GRCh38] Chr11:5247997 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.194G>C (p.Gly65Ala) | single nucleotide variant | HEMOGLOBIN AUBAGNE [RCV000016866]|not provided [RCV001811166] | Chr11:5226698 [GRCh38] Chr11:5247928 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.340del (p.Val114fs) | deletion | Dominant beta-thalassemia [RCV001731306] | Chr11:5225702 [GRCh38] Chr11:5246932 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.441C>G (p.His147Gln) | single nucleotide variant | HEMOGLOBIN KODAIRA II [RCV000016868] | Chr11:5225601 [GRCh38] Chr11:5246831 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.149C>G (p.Ser50Cys) | single nucleotide variant | HEMOGLOBIN COLIMA [RCV000016869]|not provided [RCV003476901] | Chr11:5226743 [GRCh38] Chr11:5247973 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.4(HBB):c.184A>C (p.Lys62Gln) | single nucleotide variant | HEMOGLOBIN POCOS DE CALDAS [RCV000016870] | Chr11:5226708 [GRCh38] Chr11:5247938 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.434del (p.Lys145fs) | deletion | HEMOGLOBIN TRENTO [RCV000016871] | Chr11:5225608 [GRCh38] Chr11:5246838 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.104T>A (p.Val35Asp) | single nucleotide variant | HEMOGLOBIN SANTANDER [RCV000016872] | Chr11:5226788 [GRCh38] Chr11:5248018 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.415G>A (p.Ala139Thr) | single nucleotide variant | HEMOGLOBIN BUZEN [RCV000016873] | Chr11:5225627 [GRCh38] Chr11:5246857 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.292C>A (p.His98Asn) | single nucleotide variant | HEMOGLOBIN SANTA CLARA [RCV000016874] | Chr11:5226600 [GRCh38] Chr11:5247830 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.310T>G (p.Phe104Val) | single nucleotide variant | HEMOGLOBIN SPARTA [RCV000016875] | Chr11:5226582 [GRCh38] Chr11:5247812 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.385_388delinsCCACA (p.Ala129fs) | indel | Beta-thalassemia, dominant inclusion body type [RCV000016876] | Chr11:5225654..5225657 [GRCh38] Chr11:5246884..5246887 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.259G>C (p.Ala87Pro) | single nucleotide variant | HEMOGLOBIN CARDARELLI [RCV000016878] | Chr11:5226633 [GRCh38] Chr11:5247863 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) | single nucleotide variant | Dominant beta-thalassemia [RCV002482878]|HEMOGLOBIN ROCKFORD [RCV000016880]|not provided [RCV001811167] | Chr11:5226687 [GRCh38] Chr11:5247917 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|other |
NM_000518.4(HBB):c.80A>C (p.Glu27Ala) | single nucleotide variant | HEMOGLOBIN TRIPOLI [RCV000016881] | Chr11:5226942 [GRCh38] Chr11:5248172 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.88G>A (p.Gly30Ser) | single nucleotide variant | HEMOGLOBIN TIZI-OUZOU [RCV000016882] | Chr11:5226934 [GRCh38] Chr11:5248164 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.*110T>A | single nucleotide variant | Beta-plus-thalassemia [RCV000016883] | Chr11:5225488 [GRCh38] Chr11:5246718 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.4(HBB):c.71T>C (p.Val24Ala) | single nucleotide variant | HEMOGLOBIN ZOETERWOUDE [RCV000016885] | Chr11:5226951 [GRCh38] Chr11:5248181 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.29C>A (p.Ser10Tyr) | single nucleotide variant | HEMOGLOBIN BREM-SUR-MER [RCV000016886] | Chr11:5226993 [GRCh38] Chr11:5248223 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.283G>T (p.Asp95Tyr) | single nucleotide variant | HEMOGLOBIN GELDROP ST. ANNA [RCV000016887] | Chr11:5226609 [GRCh38] Chr11:5247839 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.212C>T (p.Ala71Val) | single nucleotide variant | HEMOGLOBIN MARINEO [RCV000016888] | Chr11:5226680 [GRCh38] Chr11:5247910 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.116C>T (p.Thr39Ile) | single nucleotide variant | HEMOGLOBIN LA CORUNA [RCV000016889] | Chr11:5226776 [GRCh38] Chr11:5248006 [GRCh37] Chr11:11p15.4 |
other |
NC_000011.9:g.(?_5246695)_(5255713_?)del | deletion | Hemoglobinopathy [RCV001290524] | Chr11:5246695..5255713 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.9T>C (p.His3=) | single nucleotide variant | Dominant beta-thalassemia [RCV002505244]|Fetal hemoglobin quantitative trait locus 1 [RCV000271089]|Hb SS disease [RCV000362141]|Hemoglobin E [RCV001104360]|Inborn genetic diseases [RCV002381565]|beta Thalassemia [RCV000328523]|not provided [RCV001513849]|not specified [RCV000173144] | Chr11:5227013 [GRCh38] Chr11:5248243 [GRCh37] Chr11:11p15.4 |
benign |
GRCh38/hg38 11p15.4(chr11:3745061-7846057)x3 | copy number gain | See cases [RCV000053616] | Chr11:3745061..7846057 [GRCh38] Chr11:3766291..7867604 [GRCh37] Chr11:3722867..7824180 [NCBI36] Chr11:11p15.4 |
pathogenic |
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 | copy number gain | See cases [RCV000053613] | Chr11:202758..31726224 [GRCh38] Chr11:202758..31747772 [GRCh37] Chr11:192758..31704348 [NCBI36] Chr11:11p15.5-13 |
pathogenic |
NM_000518.5(HBB):c.185A>T (p.Lys62Met) | single nucleotide variant | HEMOGLOBIN BOLOGNA [RCV000016269] | Chr11:5226707 [GRCh38] Chr11:5247937 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.322G>C (p.Gly108Arg) | single nucleotide variant | HEMOGLOBIN BURKE [RCV000016282] | Chr11:5225720 [GRCh38] Chr11:5246950 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.284A>G (p.Asp95Gly) | single nucleotide variant | HEMOGLOBIN CHANDIGARH [RCV000016296] | Chr11:5226608 [GRCh38] Chr11:5247838 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.215T>C (p.Phe72Ser) | single nucleotide variant | HEMOGLOBIN CHRISTCHURCH [RCV000016300] | Chr11:5226677 [GRCh38] Chr11:5247907 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.65A>G (p.Asp22Gly) | single nucleotide variant | HEMOGLOBIN CONNECTICUT [RCV000016305] | Chr11:5226957 [GRCh38] Chr11:5248187 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.187G>C (p.Ala63Pro) | single nucleotide variant | HEMOGLOBIN DUARTE [RCV000016328] | Chr11:5226705 [GRCh38] Chr11:5247935 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.7C>T (p.His3Tyr) | single nucleotide variant | HEMOGLOBIN FUKUOKA [RCV000016339] | Chr11:5227015 [GRCh38] Chr11:5248245 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) | single nucleotide variant | HEMOGLOBIN G (GALVESTON) [RCV000016348]|HEMOGLOBIN G (PORT ARTHUR) [RCV000016349]|HEMOGLOBIN G (TEXAS) [RCV000016350]|not provided [RCV002476973]|not specified [RCV000507079] | Chr11:5226761 [GRCh38] Chr11:5247991 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance|other |
NM_000518.5(HBB):c.239A>G (p.Asp80Gly) | single nucleotide variant | HEMOGLOBIN G (HSI-TSOU) [RCV000016351] | Chr11:5226653 [GRCh38] Chr11:5247883 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.351T>R (p.His117Gln) | single nucleotide variant | HEMOGLOBIN HAFNIA [RCV000016368] | Chr11:5225691 [GRCh38] Chr11:5246921 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.312C>G (p.Phe104Leu) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641462]|HEMOGLOBIN HEATHROW [RCV000016375] | Chr11:5226580 [GRCh38] Chr11:5247810 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.337T>C (p.Cys113Arg) | single nucleotide variant | HEMOGLOBIN INDIANAPOLIS [RCV000016392]|Heinz body anemia [RCV000016393] | Chr11:5225705 [GRCh38] Chr11:5246935 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.279C>R (p.His93Gln) | single nucleotide variant | HEMOGLOBIN SAINT ETIENNE [RCV000016395] | Chr11:5226613 [GRCh38] Chr11:5247843 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.170G>A (p.Gly57Asp) | single nucleotide variant | not provided [RCV001811154]|not specified [RCV000016405] | Chr11:5226722 [GRCh38] Chr11:5247952 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.5(HBB):c.196A>C (p.Lys66Gln) | single nucleotide variant | HEMOGLOBIN J (CAIRO) [RCV000016409] | Chr11:5226696 [GRCh38] Chr11:5247926 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.287A>T (p.Lys96Met) | single nucleotide variant | HEMOGLOBIN J (CORDOBA) [RCV000016414] | Chr11:5226605 [GRCh38] Chr11:5247835 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.172A>G (p.Asn58Asp) | single nucleotide variant | HEMOGLOBIN J (DALOA) [RCV000016415] | Chr11:5226720 [GRCh38] Chr11:5247950 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.179A>C (p.Lys60Thr) | single nucleotide variant | not provided [RCV001284633]|not specified [RCV000016418] | Chr11:5226713 [GRCh38] Chr11:5247943 [GRCh37] Chr11:11p15.4 |
pathogenic|benign|uncertain significance|other |
NM_000518.5(HBB):c.41C>A (p.Ala14Asp) | single nucleotide variant | HEMOGLOBIN J (LENS) [RCV000016420] | Chr11:5226981 [GRCh38] Chr11:5248211 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.362A>T (p.Lys121Ile) | single nucleotide variant | HEMOGLOBIN JIANGHUA [RCV000016427] | Chr11:5225680 [GRCh38] Chr11:5246910 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.140G>A (p.Gly47Glu) | single nucleotide variant | HEMOGLOBIN K (IBADAN) [RCV000016430]|not provided [RCV001811156] | Chr11:5226752 [GRCh38] Chr11:5247982 [GRCh37] Chr11:11p15.4 |
likely benign|other |
NM_000518.5(HBB):c.254C>T (p.Thr85Ile) | single nucleotide variant | HEMOGLOBIN KOFU [RCV000016442] | Chr11:5226638 [GRCh38] Chr11:5247868 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.346G>C (p.Ala116Pro) | single nucleotide variant | Dominant beta-thalassemia [RCV005417431]|HEMOGLOBIN MADRID [RCV000016478] | Chr11:5225696 [GRCh38] Chr11:5246926 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.294C>R (p.His98Gln) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641527]|HEMOGLOBIN MALMO [RCV000016482] | Chr11:5226598 [GRCh38] Chr11:5247828 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.167T>A (p.Met56Lys) | single nucleotide variant | HEMOGLOBIN MATERA [RCV000016487] | Chr11:5226725 [GRCh38] Chr11:5247955 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.134C>G (p.Ser45Cys) | single nucleotide variant | not provided [RCV001811158]|not specified [RCV000016491] | Chr11:5226758 [GRCh38] Chr11:5247988 [GRCh37] Chr11:11p15.4 |
pathogenic|benign|uncertain significance|other |
NM_000518.5(HBB):c.425T>G (p.Leu142Arg) | single nucleotide variant | HEMOGLOBIN OLMSTED [RCV000016531]|not provided [RCV003476896] | Chr11:5225617 [GRCh38] Chr11:5246847 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.260C>A (p.Ala87Asp) | single nucleotide variant | HEMOGLOBIN OLOMOUC [RCV000016532] | Chr11:5226632 [GRCh38] Chr11:5247862 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.61G>A (p.Val21Met) | single nucleotide variant | Dominant beta-thalassemia [RCV005003360]|Erythrocytosis, familial, 6 [RCV000641556]|HEMOGLOBIN OLYMPIA [RCV000016533]|Hemoglobinopathy [RCV004799743]|not provided [RCV000759801] | Chr11:5226961 [GRCh38] Chr11:5248191 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|other |
NM_000518.5(HBB):c.107A>T (p.Tyr36Phe) | single nucleotide variant | HEMOGLOBIN PHILLY [RCV000016550] | Chr11:5226785 [GRCh38] Chr11:5248015 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.236T>G (p.Leu79Arg) | single nucleotide variant | HEMOGLOBIN QUIN-HAI [RCV000016554] | Chr11:5226656 [GRCh38] Chr11:5247886 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.327C>R (p.Asn109Lys) | single nucleotide variant | HEMOGLOBIN PRESBYTERIAN [RCV000016558] | Chr11:5225715 [GRCh38] Chr11:5246945 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.437A>G (p.Tyr146Cys) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641598]|HEMOGLOBIN RAINIER [RCV000016562]|not provided [RCV001284491] | Chr11:5225605 [GRCh38] Chr11:5246835 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.289C>G (p.Leu97Val) | single nucleotide variant | HEMOGLOBIN REGINA [RCV000016565] | Chr11:5226603 [GRCh38] Chr11:5247833 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.272A>G (p.Glu91Gly) | single nucleotide variant | HEMOGLOBIN ROSEAU-POINTE A PITRE [RCV000016570] | Chr11:5226620 [GRCh38] Chr11:5247850 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.421G>A (p.Ala141Thr) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV000641604]|HEMOGLOBIN SAINT JACQUES [RCV000016582] | Chr11:5225621 [GRCh38] Chr11:5246851 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.335T>C (p.Val112Ala) | single nucleotide variant | HEMOGLOBIN STANMORE [RCV000016607] | Chr11:5225707 [GRCh38] Chr11:5246937 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.119A>G (p.Gln40Arg) | single nucleotide variant | HEMOGLOBIN TIANSHUI [RCV000016624] | Chr11:5226773 [GRCh38] Chr11:5248003 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.373C>T (p.Pro125Ser) | single nucleotide variant | Dominant beta-thalassemia [RCV005049355]|HEMOGLOBIN TUNIS [RCV000016631] | Chr11:5225669 [GRCh38] Chr11:5246899 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.17C>G (p.Pro6Arg) | single nucleotide variant | HEMOGLOBIN WARWICKSHIRE [RCV000016640] | Chr11:5227005 [GRCh38] Chr11:5248235 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.391T>G (p.Tyr131Asp) | single nucleotide variant | HEMOGLOBIN WIEN [RCV000016641] | Chr11:5225651 [GRCh38] Chr11:5246881 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.35T>A (p.Val12Asp) | single nucleotide variant | HEMOGLOBIN WINDSOR [RCV000016642] | Chr11:5226987 [GRCh38] Chr11:5248217 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.399A>Y (p.Lys133Asn) | single nucleotide variant | HEMOGLOBIN YAMAGATA [RCV000016645] | Chr11:5225643 [GRCh38] Chr11:5246873 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.4(HBB):c.321_322insG (p.Asn109Glnfs) | insertion | beta0^ Thalassemia [RCV000016668]|beta^0^ Thalassemia [RCV000016668] | Chr11:5225721 [GRCh38] Chr11:5246951 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.217dup (p.Ser73fs) | duplication | Beta zero thalassemia [RCV000016675]|Beta-thalassemia HBB/LCRB [RCV004795420]|Dominant beta-thalassemia [RCV005049361]|Inborn genetic diseases [RCV002426508]|beta Thalassemia [RCV000576855]|not provided [RCV000507557] | Chr11:5226674..5226675 [GRCh38] Chr11:5247904..5247905 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.45dup (p.Trp16fs) | duplication | Beta zero thalassemia [RCV000016683]|Hemoglobinopathy [RCV000780312]|beta Thalassemia [RCV001078383]|not provided [RCV003556029] | Chr11:5226976..5226977 [GRCh38] Chr11:5248206..5248207 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.85dup (p.Leu29fs) | duplication | Beta zero thalassemia [RCV000016689]|Dominant beta-thalassemia [RCV005049362]|Hb SS disease [RCV001004352]|Hemoglobinopathy [RCV000780308]|beta Thalassemia [RCV000169441]|not provided [RCV000508423] | Chr11:5226936..5226937 [GRCh38] Chr11:5248166..5248167 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.229G>C (p.Ala77Pro) | single nucleotide variant | HEMOGLOBIN CALAIS [RCV000016740] | Chr11:5226663 [GRCh38] Chr11:5247893 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.143dup (p.Asp48fs) | duplication | beta Thalassemia [RCV000016744]|not provided [RCV000505977] | Chr11:5226748..5226749 [GRCh38] Chr11:5247978..5247979 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.164T>A (p.Val55Asp) | single nucleotide variant | HEMOGLOBIN JACKSONVILLE [RCV000016750] | Chr11:5226728 [GRCh38] Chr11:5247958 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.300T>R (p.Asp100Glu) | single nucleotide variant | HEMOGLOBIN COIMBRA [RCV000016757] | Chr11:5226592 [GRCh38] Chr11:5247822 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.55G>A (p.Val19Met) | single nucleotide variant | HEMOGLOBIN BADEN [RCV000016781] | Chr11:5226967 [GRCh38] Chr11:5248197 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.347C>A (p.Ala116Asp) | single nucleotide variant | Dominant beta-thalassemia [RCV005417433]|Hemoglobinopathy [RCV000016791]|not provided [RCV002284172] | Chr11:5225695 [GRCh38] Chr11:5246925 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.5(HBB):c.290T>C (p.Leu97Pro) | single nucleotide variant | HEMOGLOBIN DEBROUSSE [RCV000016816] | Chr11:5226602 [GRCh38] Chr11:5247832 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.188C>A (p.Ala63Asp) | single nucleotide variant | HEMOGLOBIN J (EUROPA) [RCV000016819] | Chr11:5226704 [GRCh38] Chr11:5247934 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.396G>C (p.Gln132His) | single nucleotide variant | HEMOGLOBIN SILVER SPRINGS [RCV000016830] | Chr11:5225646 [GRCh38] Chr11:5246876 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.419A>C (p.Asn140Thr) | single nucleotide variant | HEMOGLOBIN SAGAMI [RCV000016840]|not provided [RCV004998097] | Chr11:5225623 [GRCh38] Chr11:5246853 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.253A>G (p.Thr85Ala) | single nucleotide variant | HEMOGLOBIN SAALE [RCV000016846]|not provided [RCV000759063] | Chr11:5226639 [GRCh38] Chr11:5247869 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.401T>C (p.Val134Ala) | single nucleotide variant | HEMOGLOBIN RENERT [RCV000016852] | Chr11:5225641 [GRCh38] Chr11:5246871 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.409G>C (p.Gly137Arg) | single nucleotide variant | HEMOGLOBIN 'T LANGE LAND [RCV000016857] | Chr11:5225633 [GRCh38] Chr11:5246863 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.27G>C (p.Lys9Asn) | single nucleotide variant | HEMOGLOBIN LIMASSOL [RCV000016860] | Chr11:5226995 [GRCh38] Chr11:5248225 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.379G>C (p.Val127Leu) | single nucleotide variant | HEMOGLOBIN MOLFETTA [RCV000016864] | Chr11:5225663 [GRCh38] Chr11:5246893 [GRCh37] Chr11:11p15.4 |
other |
GRCh37/hg19 11p15.4(chr11:5198944-5255663)x1 | copy number loss | not provided [RCV002292847] | Chr11:5198944..5255663 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.139G>C (p.Gly47Arg) | single nucleotide variant | not provided [RCV001284627] | Chr11:5226753 [GRCh38] Chr11:5247983 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.4(HBB):c.98T>A (p.Leu33Gln) | single nucleotide variant | not provided [RCV001811076] | Chr11:5226794 [GRCh38] Chr11:5248024 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.-25T>C | single nucleotide variant | beta Thalassemia [RCV000256387] | Chr11:5227046 [GRCh38] Chr11:5248276 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NC_000011.10:g.5226638_5234052del | deletion | Hemoglobin Lepore trait [RCV000016207] | Chr11:5226634..5234048 [GRCh38] Chr11:5247864..5255278 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NC_000011.10:g.5226570_5233984del | deletion | Anemia [RCV000415449]|Hemoglobin Lepore trait [RCV000016208]|alpha Thalassemia [RCV001196231] | Chr11:5226570..5233984 [GRCh38] Chr11:5247800..5255214 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
NM_000518.4(HBB):c.-7305_92+16del | deletion | Hemoglobin Lepore trait [RCV000016213] | Chr11:5226914..5234326 [GRCh38] Chr11:5248144..5255556 [GRCh37] Chr11:11p15.4 |
pathogenic|other |
GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3 | copy number gain | See cases [RCV000133997] | Chr11:446754..18904742 [GRCh38] Chr11:446754..18926289 [GRCh37] Chr11:436754..18882865 [NCBI36] Chr11:11p15.5-15.1 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3 | copy number gain | See cases [RCV000139987] | Chr11:61793..10727969 [GRCh38] Chr11:61793..10749516 [GRCh37] Chr11:51793..10706092 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3 | copy number gain | See cases [RCV000142890] | Chr11:196855..5321874 [GRCh38] Chr11:196855..5343104 [GRCh37] Chr11:186855..5299680 [NCBI36] Chr11:11p15.5-15.4 |
pathogenic |
NM_000518.5(HBB):c.315+1G>C | single nucleotide variant | beta Thalassemia [RCV000169544]|not provided [RCV001850405] | Chr11:5226576 [GRCh38] Chr11:5247806 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
GRCh37/hg19 11p15.4(chr11:5248267-5255227)x4 | copy number gain | See cases [RCV000240152] | Chr11:5248267..5255227 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-15.4(chr11:193187-5291338)x3 | copy number gain | See cases [RCV000446036] | Chr11:193187..5291338 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_000518.5(HBB):c.219_220del (p.Ser73fs) | deletion | not provided [RCV000756235] | Chr11:5226672..5226673 [GRCh38] Chr11:5247902..5247903 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.155del (p.Pro52fs) | deletion | Hemoglobinopathy [RCV001193151]|beta Thalassemia [RCV001078413]|not provided [RCV001269808] | Chr11:5226737 [GRCh38] Chr11:5247967 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.249G>C (p.Lys83Asn) | single nucleotide variant | not provided [RCV000757358] | Chr11:5226643 [GRCh38] Chr11:5247873 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.158A>T (p.Asp53Val) | single nucleotide variant | not provided [RCV000757366] | Chr11:5226734 [GRCh38] Chr11:5247964 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.-50_92del (p.Met1fs) | deletion | not provided [RCV001284497] | Chr11:5226930..5227071 [GRCh38] Chr11:5248160..5248301 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.316-238C>T | single nucleotide variant | beta Thalassemia [RCV000625739]|not provided [RCV000864684]|not specified [RCV000248556] | Chr11:5225964 [GRCh38] Chr11:5247194 [GRCh37] Chr11:11p15.4 |
pathogenic|likely benign |
NM_000518.5(HBB):c.93-15T>C | single nucleotide variant | not provided [RCV003105837]|not specified [RCV000253363] | Chr11:5226814 [GRCh38] Chr11:5248044 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.315+16G>C | single nucleotide variant | beta Thalassemia [RCV000736020]|not provided [RCV001513848]|not specified [RCV000248874] | Chr11:5226561 [GRCh38] Chr11:5247791 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000518.5(HBB):c.288G>A (p.Lys96=) | single nucleotide variant | not provided [RCV000980922]|not specified [RCV000244119] | Chr11:5226604 [GRCh38] Chr11:5247834 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.316-146T>C | single nucleotide variant | not provided [RCV002055042]|not specified [RCV000251997] | Chr11:5225872 [GRCh38] Chr11:5247102 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.4(HBB):c.*353G>A | single nucleotide variant | not specified [RCV000252325] | Chr11:5225245 [GRCh38] Chr11:5246475 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.4(HBB):c.*316A>C | single nucleotide variant | not provided [RCV001594893]|not specified [RCV000247556] | Chr11:5225282 [GRCh38] Chr11:5246512 [GRCh37] Chr11:11p15.4 |
benign |
NC_000011.10:g.5225365C>G | single nucleotide variant | beta Thalassemia [RCV001078283]|not provided [RCV000860791]|not specified [RCV000242777] | Chr11:5225365 [GRCh38] Chr11:5246595 [GRCh37] Chr11:11p15.4 |
pathogenic|benign |
NC_000011.10:g.5225367A>G | single nucleotide variant | not provided [RCV001469216]|not specified [RCV000252778] | Chr11:5225367 [GRCh38] Chr11:5246597 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.*56A>T | single nucleotide variant | Fetal hemoglobin quantitative trait locus 1 [RCV000405739]|Hb SS disease [RCV000337326]|Hemoglobin E [RCV001105806]|beta Thalassemia [RCV000297689] | Chr11:5225542 [GRCh38] Chr11:5246772 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.4(HBB):c.-152C>A | single nucleotide variant | not specified [RCV002281797] | Chr11:5227173 [GRCh38] Chr11:5248403 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-138G>A | single nucleotide variant | not provided [RCV000586836]|not specified [RCV005240272] | Chr11:5225864 [GRCh38] Chr11:5247094 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.387T>A (p.Ala129=) | single nucleotide variant | beta Thalassemia [RCV001279266]|not provided [RCV002542922] | Chr11:5225655 [GRCh38] Chr11:5246885 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.57G>A (p.Val19=) | single nucleotide variant | not provided [RCV000985754]|not specified [RCV000586045] | Chr11:5226965 [GRCh38] Chr11:5248195 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.-23A>G | single nucleotide variant | not provided [RCV000586372] | Chr11:5227044 [GRCh38] Chr11:5248274 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316_444del (p.Leu106_Ter148del) | deletion | not provided [RCV001269514] | Chr11:5225598..5225726 [GRCh38] Chr11:5246828..5246956 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.226del (p.Leu76fs) | deletion | beta Thalassemia [RCV000586222]|not provided [RCV005091541] | Chr11:5226666 [GRCh38] Chr11:5247896 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.*53C>A | single nucleotide variant | Fetal hemoglobin quantitative trait locus 1 [RCV000404908]|Hb SS disease [RCV000369395]|Hemoglobin E [RCV001106913]|beta Thalassemia [RCV000311091]|not specified [RCV005238876] | Chr11:5225545 [GRCh38] Chr11:5246775 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.4(HBB):c.-83G>T | single nucleotide variant | not provided [RCV000587061] | Chr11:5227104 [GRCh38] Chr11:5248334 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.270T>C (p.Ser90=) | single nucleotide variant | not specified [RCV000587305] | Chr11:5226622 [GRCh38] Chr11:5247852 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.4(HBB):c.-102G>T | single nucleotide variant | not provided [RCV000587333] | Chr11:5227123 [GRCh38] Chr11:5248353 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.144T>C (p.Asp48=) | single nucleotide variant | not specified [RCV000587742] | Chr11:5226748 [GRCh38] Chr11:5247978 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.327C>T (p.Asn109=) | single nucleotide variant | beta Thalassemia [RCV001835859]|not provided [RCV000587854]|not specified [RCV001731798] | Chr11:5225715 [GRCh38] Chr11:5246945 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.371_378del (p.Thr124fs) | deletion | beta Thalassemia [RCV000588177]|not specified [RCV001002371] | Chr11:5225664..5225671 [GRCh38] Chr11:5246894..5246901 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.70G>C (p.Val24Leu) | single nucleotide variant | not provided [RCV000587770] | Chr11:5226952 [GRCh38] Chr11:5248182 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-109C>T | single nucleotide variant | not provided [RCV000588296]|not specified [RCV005240269] | Chr11:5225835 [GRCh38] Chr11:5247065 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.316-128G>C | single nucleotide variant | not provided [RCV000588496]|not specified [RCV005240271] | Chr11:5225854 [GRCh38] Chr11:5247084 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.316-189A>G | single nucleotide variant | not provided [RCV000588558]|not specified [RCV001260259] | Chr11:5225915 [GRCh38] Chr11:5247145 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.141G>A (p.Gly47=) | single nucleotide variant | not provided [RCV002061974]|not specified [RCV000586008] | Chr11:5226751 [GRCh38] Chr11:5247981 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.-10_-7del | deletion | beta Thalassemia [RCV001078296]|not provided [RCV000588894]|not specified [RCV005407771] | Chr11:5227028..5227031 [GRCh38] Chr11:5248258..5248261 [GRCh37] Chr11:11p15.4 |
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.*56A>G | single nucleotide variant | not provided [RCV000588701]|not specified [RCV000855595] | Chr11:5225542 [GRCh38] Chr11:5246772 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.151A>T (p.Thr51Ser) | single nucleotide variant | beta Thalassemia [RCV001272127]|not provided [RCV003478322]|not specified [RCV000586865] | Chr11:5226741 [GRCh38] Chr11:5247971 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-46G>A | single nucleotide variant | not specified [RCV000587163] | Chr11:5225772 [GRCh38] Chr11:5247002 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.-140C>G | single nucleotide variant | Dominant beta-thalassemia [RCV005049610]|beta Thalassemia [RCV001078396]|not provided [RCV005000361]|not specified [RCV000589253] | Chr11:5227161 [GRCh38] Chr11:5248391 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.56T>G (p.Val19Gly) | single nucleotide variant | beta Thalassemia [RCV001834854]|not provided [RCV000589269]|not specified [RCV001251065] | Chr11:5226966 [GRCh38] Chr11:5248196 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.93-6C>T | single nucleotide variant | beta Thalassemia [RCV001834855]|not provided [RCV000588998]|not specified [RCV005407772] | Chr11:5226805 [GRCh38] Chr11:5248035 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.92+4G>A | single nucleotide variant | not provided [RCV000587266] | Chr11:5226926 [GRCh38] Chr11:5248156 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*102C>T | single nucleotide variant | not specified [RCV000589709] | Chr11:5225496 [GRCh38] Chr11:5246726 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*62A>G | single nucleotide variant | Dominant beta-thalassemia [RCV002497234]|not provided [RCV001284487]|not specified [RCV000589760] | Chr11:5225536 [GRCh38] Chr11:5246766 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.6G>A (p.Val2=) | single nucleotide variant | not provided [RCV002532349]|not specified [RCV000589345] | Chr11:5227016 [GRCh38] Chr11:5248246 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.316-114C>T | single nucleotide variant | not provided [RCV000590043]|not specified [RCV005240270] | Chr11:5225840 [GRCh38] Chr11:5247070 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.4(HBB):c.-71G>A | single nucleotide variant | not provided [RCV000590055] | Chr11:5227092 [GRCh38] Chr11:5248322 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.-150T>A | single nucleotide variant | not specified [RCV004767425] | Chr11:5227171 [GRCh38] Chr11:5248401 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-19T>A | single nucleotide variant | not provided [RCV000590215]|not specified [RCV001293423] | Chr11:5225745 [GRCh38] Chr11:5246975 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.223G>A (p.Gly75Ser) | single nucleotide variant | beta Thalassemia [RCV001272125]|not provided [RCV001283986]|not specified [RCV000589565] | Chr11:5226669 [GRCh38] Chr11:5247899 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-45G>C | single nucleotide variant | not provided [RCV000874734]|not specified [RCV000590432] | Chr11:5225771 [GRCh38] Chr11:5247001 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.-100G>A | single nucleotide variant | Dominant beta-thalassemia [RCV002483568]|beta Thalassemia [RCV001272131]|not provided [RCV000590577]|not specified [RCV001526852] | Chr11:5227121 [GRCh38] Chr11:5248351 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-130T>C | single nucleotide variant | not provided [RCV001451826]|not specified [RCV001174623] | Chr11:5225856 [GRCh38] Chr11:5247086 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.129T>C (p.Phe43=) | single nucleotide variant | not provided [RCV002532348]|not specified [RCV000586495] | Chr11:5226763 [GRCh38] Chr11:5247993 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.*115A>C | single nucleotide variant | not provided [RCV000586987] | Chr11:5225483 [GRCh38] Chr11:5246713 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.-29G>A | single nucleotide variant | Hemoglobinopathy [RCV000781439]|beta Thalassemia [RCV000445640]|not provided [RCV002522735] | Chr11:5227050 [GRCh38] Chr11:5248280 [GRCh37] Chr11:11p15.4 |
pathogenic|not provided |
NM_000518.5(HBB):c.*6C>G | single nucleotide variant | Beta thalassemia intermedia [RCV002265766]|beta Thalassemia [RCV000445641]|not provided [RCV002522737] | Chr11:5225592 [GRCh38] Chr11:5246822 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.-138C>A | single nucleotide variant | Beta-plus-thalassemia [RCV000016721]|Beta-thalassemia HBB/LCRB [RCV005430536]|Dominant beta-thalassemia [RCV000762846]|Hemoglobinopathy [RCV000781451]|beta Thalassemia [RCV000445645]|not provided [RCV000505872]|not specified [RCV003488595] | Chr11:5227159 [GRCh38] Chr11:5248389 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records |
NM_000518.4:c.91+6T>C | single nucleotide variant | beta Thalassemia [RCV000445646] | Chr11:11p15.4 | pathogenic |
NM_000518.5(HBB):c.-41del | deletion | beta Thalassemia [RCV000445647] | Chr11:5227062 [GRCh38] Chr11:5248292 [GRCh37] Chr11:11p15.4 |
pathogenic|not provided |
c.17delA | deletion | beta Thalassemia [RCV000445648] | Chr11:11p15.4 | pathogenic |
NM_000518.5(HBB):c.316-7C>G | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV005430354]|beta Thalassemia [RCV000445651]|not provided [RCV001284152]|not specified [RCV000781440] | Chr11:5225733 [GRCh38] Chr11:5246963 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
NM_000518.5(HBB):c.-18C>G | single nucleotide variant | beta Thalassemia [RCV000445652]|not provided [RCV002522736] | Chr11:5227039 [GRCh38] Chr11:5248269 [GRCh37] Chr11:11p15.4 |
pathogenic |
GRCh37/hg19 11p15.5-15.4(chr11:230615-6644927)x3 | copy number gain | See cases [RCV000449417] | Chr11:230615..6644927 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
GRCh37/hg19 11p15.4(chr11:4371631-5253127) | copy number gain | Abnormal esophagus morphology [RCV000416780] | Chr11:4371631..5253127 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.316-82G>A | single nucleotide variant | not provided [RCV001810991] | Chr11:5225808 [GRCh38] Chr11:5247038 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.4(HBB):c.85dup (p.Leu29Profs) | duplication | not provided [RCV000508423] | Chr11:5226937 [GRCh38] Chr11:5248167 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.11T>A (p.Leu4Gln) | single nucleotide variant | not specified [RCV000508469] | Chr11:5227011 [GRCh38] Chr11:5248241 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-125A>G | single nucleotide variant | HBB-related disorder [RCV004541579]|beta Thalassemia [RCV001078266]|not provided [RCV000508509]|not specified [RCV001281704] | Chr11:5225851 [GRCh38] Chr11:5247081 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.378A>T (p.Pro126=) | single nucleotide variant | not specified [RCV000508552] | Chr11:5225664 [GRCh38] Chr11:5246894 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) | single nucleotide variant | Dominant beta-thalassemia [RCV005049397]|beta Thalassemia [RCV000589075]|not provided [RCV000508624] | Chr11:5226974 [GRCh38] Chr11:5248204 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.46del (p.Trp16fs) | deletion | Beta-thalassemia HBB/LCRB [RCV004689430]|beta Thalassemia [RCV000590721]|not provided [RCV000508660] | Chr11:5226976 [GRCh38] Chr11:5248206 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.45G>A (p.Leu15=) | single nucleotide variant | Inborn genetic diseases [RCV004023441]|not provided [RCV001415758]|not specified [RCV000508663] | Chr11:5226977 [GRCh38] Chr11:5248207 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 | copy number gain | See cases [RCV000511561] | Chr11:230615..37698540 [GRCh37] Chr11:11p15.5-12 |
pathogenic |
NM_000518.5(HBB):c.246C>A (p.Leu82=) | single nucleotide variant | Fetal hemoglobin quantitative trait locus 1 [RCV001107021]|Hb SS disease [RCV001104261]|Hemoglobin E [RCV001104260]|beta Thalassemia [RCV001104259]|not provided [RCV000759796]|not specified [RCV000505921] | Chr11:5226646 [GRCh38] Chr11:5247876 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.4(HBB):c.143dup (p.Asp48Glufs) | duplication | not provided [RCV000505977] | Chr11:5226749 [GRCh38] Chr11:5247979 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.253del (p.Thr85fs) | deletion | not provided [RCV000506042] | Chr11:5226639 [GRCh38] Chr11:5247869 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.294C>T (p.His98=) | single nucleotide variant | Fetal hemoglobin quantitative trait locus 1 [RCV001103971]|Hb SS disease [RCV001104254]|Hemoglobin E [RCV001103972]|Inborn genetic diseases [RCV003159645]|beta Thalassemia [RCV001103970]|not provided [RCV000585933]|not specified [RCV000506063] | Chr11:5226598 [GRCh38] Chr11:5247828 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.92+2T>A | single nucleotide variant | Beta zero thalassemia [RCV000016739]|Beta-thalassemia HBB/LCRB [RCV005430111]|beta Thalassemia [RCV000665219]|not provided [RCV000506130] | Chr11:5226928 [GRCh38] Chr11:5248158 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.323dup (p.Asn109fs) | duplication | Beta zero thalassemia [RCV000016668]|Dominant beta-thalassemia [RCV005049576]|beta Thalassemia [RCV000589491]|not provided [RCV000506185] | Chr11:5225718..5225719 [GRCh38] Chr11:5246948..5246949 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.315+74T>G | single nucleotide variant | beta Thalassemia [RCV001078265]|not provided [RCV000860762] | Chr11:5226503 [GRCh38] Chr11:5247733 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.351T>A (p.His117Gln) | single nucleotide variant | not specified [RCV000506216] | Chr11:5225691 [GRCh38] Chr11:5246921 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.315+2T>G | single nucleotide variant | beta Thalassemia [RCV001078426]|not provided [RCV000506362] | Chr11:5226575 [GRCh38] Chr11:5247805 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.93-1G>C | single nucleotide variant | Beta zero thalassemia [RCV000016769]|Beta-thalassemia HBB/LCRB [RCV004689769]|Beta-thalassemia major [RCV001375484]|beta Thalassemia [RCV001078336]|not provided [RCV000506434] | Chr11:5226800 [GRCh38] Chr11:5248030 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.33C>A (p.Ala11=) | single nucleotide variant | HBB-related disorder [RCV004535634]|Inborn genetic diseases [RCV002455977]|beta Thalassemia [RCV001374655]|not provided [RCV000757356] | Chr11:5226989 [GRCh38] Chr11:5248219 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.113G>A (p.Trp38Ter) | single nucleotide variant | beta Thalassemia [RCV001078348]|not provided [RCV003558431]|not specified [RCV000506586] | Chr11:5226779 [GRCh38] Chr11:5248009 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.207C>T (p.Leu69=) | single nucleotide variant | HBB-related disorder [RCV004541578]|Inborn genetic diseases [RCV002420277]|not provided [RCV000934466]|not specified [RCV000506621] | Chr11:5226685 [GRCh38] Chr11:5247915 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity |
NM_000518.4(HBB):c.-122T>G | single nucleotide variant | not provided [RCV000590613] | Chr11:5227143 [GRCh38] Chr11:5248373 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-156T>C | single nucleotide variant | not provided [RCV002056899]|not specified [RCV000506741] | Chr11:5225882 [GRCh38] Chr11:5247112 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.387_389del (p.Ala130del) | deletion | not specified [RCV000506776] | Chr11:5225653..5225655 [GRCh38] Chr11:5246883..5246885 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-1G>T | single nucleotide variant | beta Thalassemia [RCV001078269]|not provided [RCV000506832] | Chr11:5225727 [GRCh38] Chr11:5246957 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?) | duplication | Beta-thalassemia HBB/LCRB [RCV003313962]|HEMOGLOBIN TAK [RCV000016621]|Hemoglobinopathy [RCV001375559]|not provided [RCV000506874] | Chr11:5225600..5225601 [GRCh38] Chr11:5246830..5246831 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|other |
NM_000518.5(HBB):c.315G>T (p.Arg105Ser) | single nucleotide variant | not specified [RCV000506907] | Chr11:5226577 [GRCh38] Chr11:5247807 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.33C>T (p.Ala11=) | single nucleotide variant | Inborn genetic diseases [RCV004023417]|not provided [RCV001503004]|not specified [RCV000507049] | Chr11:5226989 [GRCh38] Chr11:5248219 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.4(HBB):c.287dup (p.Leu97Alafs) | duplication | not provided [RCV000507093] | Chr11:5226605 [GRCh38] Chr11:5247835 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.315+26T>G | single nucleotide variant | beta Thalassemia [RCV001272123]|not provided [RCV000860814] | Chr11:5226551 [GRCh38] Chr11:5247781 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.92+6T>A | single nucleotide variant | not provided [RCV003478077] | Chr11:5226924 [GRCh38] Chr11:5248154 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-107G>C | single nucleotide variant | not provided [RCV002524903]|not specified [RCV000507232] | Chr11:5225833 [GRCh38] Chr11:5247063 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.315+3G>C | single nucleotide variant | not specified [RCV000507292] | Chr11:5226574 [GRCh38] Chr11:5247804 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.-82C>T | single nucleotide variant | Dominant beta-thalassemia [RCV005049577]|HBB-related disorder [RCV004732913]|beta Thalassemia [RCV001078343]|not provided [RCV000507303]|not specified [RCV000855594] | Chr11:5227103 [GRCh38] Chr11:5248333 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.316-177A>G | single nucleotide variant | not provided [RCV003736798]|not specified [RCV000507329] | Chr11:5225903 [GRCh38] Chr11:5247133 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.174C>T (p.Asn58=) | single nucleotide variant | not provided [RCV001419584]|not specified [RCV000507371] | Chr11:5226718 [GRCh38] Chr11:5247948 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.93-2A>C | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV004696927]|Hemoglobinopathy [RCV000780315]|beta Thalassemia [RCV001078337]|not provided [RCV000507399] | Chr11:5226801 [GRCh38] Chr11:5248031 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.*78T>C | single nucleotide variant | not specified [RCV000507440] | Chr11:5225520 [GRCh38] Chr11:5246750 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.1A>G (p.Met1Val) | single nucleotide variant | Dominant beta-thalassemia [RCV005049575]|Hemoglobinopathy [RCV000780324]|beta Thalassemia [RCV001078261]|not provided [RCV000507448] | Chr11:5227021 [GRCh38] Chr11:5248251 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.*116dup | duplication | not provided [RCV000985257]|not specified [RCV000507501] | Chr11:5225481..5225482 [GRCh38] Chr11:5246711..5246712 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.84C>T (p.Ala28=) | single nucleotide variant | not provided [RCV000985756]|not specified [RCV000507534] | Chr11:5226938 [GRCh38] Chr11:5248168 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.79G>T (p.Glu27Ter) | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV005430471]|Hemoglobinopathy [RCV000781460]|beta Thalassemia [RCV000674991]|not provided [RCV000507549] | Chr11:5226943 [GRCh38] Chr11:5248173 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.4(HBB):c.217dup (p.Ser73Lysfs) | duplication | not provided [RCV000507557] | Chr11:5226675 [GRCh38] Chr11:5247905 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.274C>T (p.Leu92=) | single nucleotide variant | Fetal hemoglobin quantitative trait locus 1 [RCV001104255]|Hb SS disease [RCV001104258]|Hemoglobin E [RCV001104256]|Inborn genetic diseases [RCV004629226]|beta Thalassemia [RCV001104257]|not provided [RCV000756242]|not specified [RCV000507587] | Chr11:5226618 [GRCh38] Chr11:5247848 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.123G>T (p.Arg41Ser) | single nucleotide variant | Dominant beta-thalassemia [RCV002490848]|beta Thalassemia [RCV001272128]|not provided [RCV001281733] | Chr11:5226769 [GRCh38] Chr11:5247999 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.31G>A (p.Ala11Thr) | single nucleotide variant | not specified [RCV000507628] | Chr11:5226991 [GRCh38] Chr11:5248221 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) | single nucleotide variant | not provided [RCV000588047]|not specified [RCV004586649] | Chr11:5225683 [GRCh38] Chr11:5246913 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.394C>G (p.Gln132Glu) | single nucleotide variant | HEMOGLOBIN CAMDEN [RCV002280781]|HEMOGLOBIN MOTOWN [RCV002280782]|HEMOGLOBIN TOKUCHI [RCV002280783]|not provided [RCV001281709]|not specified [RCV000507699] | Chr11:5225648 [GRCh38] Chr11:5246878 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|other |
NM_000518.5(HBB):c.*132C>T | single nucleotide variant | not provided [RCV002524902]|not specified [RCV000507917] | Chr11:5225466 [GRCh38] Chr11:5246696 [GRCh37] Chr11:11p15.4 |
likely pathogenic|uncertain significance |
NM_000518.5(HBB):c.180G>A (p.Lys60=) | single nucleotide variant | Inborn genetic diseases [RCV003159640]|beta Thalassemia [RCV001276402]|not provided [RCV000588240]|not specified [RCV000507965] | Chr11:5226712 [GRCh38] Chr11:5247942 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.315+81C>T | single nucleotide variant | beta Thalassemia [RCV000736021]|not provided [RCV000860792] | Chr11:5226496 [GRCh38] Chr11:5247726 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA | indel | not provided [RCV002524904]|not specified [RCV000507980] | Chr11:5226796..5226829 [GRCh38] Chr11:5248026..5248059 [GRCh37] Chr11:11p15.4 |
likely pathogenic|uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) | copy number gain | See cases [RCV000511729] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NM_000518.5(HBB):c.33dup (p.Val12fs) | duplication | not provided [RCV000508062] | Chr11:5226988..5226989 [GRCh38] Chr11:5248218..5248219 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.143_146dup (p.Thr51fs) | duplication | beta Thalassemia [RCV001078409]|not provided [RCV000508077] | Chr11:5226745..5226746 [GRCh38] Chr11:5247975..5247976 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.162del (p.Val55fs) | deletion | not provided [RCV000508169] | Chr11:5226730 [GRCh38] Chr11:5247960 [GRCh37] Chr11:11p15.4 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 | copy number gain | See cases [RCV000510881] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
NC_000011.10:g.5227114G>T | single nucleotide variant | not provided [RCV001284496] | Chr11:5227114 [GRCh38] Chr11:5248344 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.4(HBB):c.-73C>T | single nucleotide variant | not provided [RCV000586215] | Chr11:5227094 [GRCh38] Chr11:5248324 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*67G>T | single nucleotide variant | not provided [RCV000586515] | Chr11:5225531 [GRCh38] Chr11:5246761 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.39T>C (p.Thr13=) | single nucleotide variant | not provided [RCV003574782]|not specified [RCV000586539] | Chr11:5226983 [GRCh38] Chr11:5248213 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136) | copy number gain | Silver-Russell syndrome 1 [RCV000767567] | Chr11:193146..12643136 [GRCh37] Chr11:11p15.5-15.3 |
pathogenic |
NM_000518.5(HBB):c.15_19delinsATCTT (p.Pro6_Glu7delinsSerTer) | indel | Hemoglobinopathy [RCV003317770] | Chr11:5227003..5227007 [GRCh38] Chr11:5248233..5248237 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.90C>T (p.Gly30=) | single nucleotide variant | beta Thalassemia [RCV000588766]|not provided [RCV001269729] | Chr11:5226932 [GRCh38] Chr11:5248162 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.93-24A>G | single nucleotide variant | not provided [RCV000586394]|not specified [RCV005240273] | Chr11:5226823 [GRCh38] Chr11:5248053 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 | copy number gain | See cases [RCV000512225] | Chr11:230615..25584362 [GRCh37] Chr11:11p15.5-14.3 |
pathogenic |
NM_000518.5(HBB):c.-77_-76del | deletion | Beta thalassemia intermedia [RCV000587966]|Dominant beta-thalassemia [RCV005049611]|not provided [RCV005000362] | Chr11:5227097..5227098 [GRCh38] Chr11:5248327..5248328 [GRCh37] Chr11:11p15.4 |
likely pathogenic|uncertain significance |
NM_000518.5(HBB):c.2T>A (p.Met1Lys) | single nucleotide variant | beta Thalassemia [RCV000588257]|not provided [RCV000985744] | Chr11:5227020 [GRCh38] Chr11:5248250 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 | copy number gain | See cases [RCV000512477] | Chr11:230615..31995219 [GRCh37] Chr11:11p15.5-13 |
pathogenic |
NC_000011.10:g.5225432G>T | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV005430384] | Chr11:5225432 [GRCh38] Chr11:5246662 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-7C>A | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV005430554]|Hb SS disease [RCV001004563]|beta Thalassemia [RCV000667076]|not provided [RCV001283996]|not specified [RCV001000150] | Chr11:5225733 [GRCh38] Chr11:5246963 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.147del (p.Ser50fs) | deletion | Beta-thalassemia HBB/LCRB [RCV005430687] | Chr11:5226745 [GRCh38] Chr11:5247975 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.316-1G>A | single nucleotide variant | Beta zero thalassemia [RCV000736022]|Beta-thalassemia HBB/LCRB [RCV005430580]|beta Thalassemia [RCV000668023]|not provided [RCV003558495] | Chr11:5225727 [GRCh38] Chr11:5246957 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.164_168delinsGGCATCA (p.Val55fs) | indel | beta Thalassemia [RCV000722147] | Chr11:5226724..5226728 [GRCh38] Chr11:5247954..5247958 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.5226905_5227197del | deletion | beta Thalassemia [RCV000722073] | Chr11:5226905..5227197 [GRCh38] Chr11:5248135..5248427 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.64dup (p.Asp22fs) | duplication | Beta-thalassemia HBB/LCRB [RCV005430438]|Beta-thalassemia, Ashkenazi Jewish type [RCV002284203]|beta Thalassemia [RCV000666440] | Chr11:5226957..5226958 [GRCh38] Chr11:5248187..5248188 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.93-15T>G | single nucleotide variant | Beta zero thalassemia [RCV000016713]|Beta-thalassemia HBB/LCRB [RCV004568488]|beta Thalassemia [RCV000665080]|not provided [RCV005422928] | Chr11:5226814 [GRCh38] Chr11:5248044 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
GRCh37/hg19 11p15.4(chr11:5175476-5258592)x1 | copy number loss | not provided [RCV000683301] | Chr11:5175476..5258592 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3 | copy number gain | not provided [RCV000683372] | Chr11:230615..17099213 [GRCh37] Chr11:11p15.5-15.1 |
pathogenic |
GRCh37/hg19 11p15.5-15.4(chr11:230615-9704511)x3 | copy number gain | not provided [RCV000683369] | Chr11:230615..9704511 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_000518.5(HBB):c.91A>C (p.Arg31=) | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV004689867]|beta Thalassemia [RCV000721920]|not provided [RCV001284494] | Chr11:5226931 [GRCh38] Chr11:5248161 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.70G>A (p.Val24Ile) | single nucleotide variant | Hemoglobinopathy [RCV000736024]|not provided [RCV005000227] | Chr11:5226952 [GRCh38] Chr11:5248182 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance |
NM_000518.5(HBB):c.*97G>C | single nucleotide variant | not specified [RCV001001186] | Chr11:5225501 [GRCh38] Chr11:5246731 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.279C>A (p.His93Gln) | single nucleotide variant | not provided [RCV001811594] | Chr11:5226613 [GRCh38] Chr11:5247843 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.81G>C (p.Glu27Asp) | single nucleotide variant | Hemoglobinopathy [RCV000736023] | Chr11:5226941 [GRCh38] Chr11:5248171 [GRCh37] Chr11:11p15.4 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 | copy number gain | not provided [RCV000737348] | Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 | copy number gain | not provided [RCV000749874] | Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.4(chr11:5247962-5248052)x1 | copy number loss | not provided [RCV000737395] | Chr11:5247962..5248052 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.316-246C>T | single nucleotide variant | not provided [RCV000977082] | Chr11:5225972 [GRCh38] Chr11:5247202 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.10:g.5227134T>C | single nucleotide variant | not provided [RCV001284626] | Chr11:5227134 [GRCh38] Chr11:5248364 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.315+332T>G | single nucleotide variant | not provided [RCV000977328] | Chr11:5226245 [GRCh38] Chr11:5247475 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.10:g.5225302A>G | single nucleotide variant | not provided [RCV000873184] | Chr11:5225302 [GRCh38] Chr11:5246532 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.316-292del | deletion | not provided [RCV000941648] | Chr11:5226018 [GRCh38] Chr11:5247248 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.316-20C>T | single nucleotide variant | not specified [RCV001582389] | Chr11:5225746 [GRCh38] Chr11:5246976 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-152A>T | single nucleotide variant | not provided [RCV000976402] | Chr11:5225878 [GRCh38] Chr11:5247108 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.*104G>A | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV003983197]|not provided [RCV000756244]|not specified [RCV001193738] | Chr11:5225494 [GRCh38] Chr11:5246724 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.*93A>T | single nucleotide variant | not provided [RCV000759787]|not specified [RCV000780323] | Chr11:5225505 [GRCh38] Chr11:5246735 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.-10A>G | single nucleotide variant | beta Thalassemia [RCV001825504]|not provided [RCV000759789]|not specified [RCV001175410] | Chr11:5227031 [GRCh38] Chr11:5248261 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.131A>G (p.Glu44Gly) | single nucleotide variant | not provided [RCV000759791] | Chr11:5226761 [GRCh38] Chr11:5247991 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.169G>A (p.Gly57Ser) | single nucleotide variant | Dominant beta-thalassemia [RCV002507331]|not provided [RCV000759792]|not specified [RCV002282357] | Chr11:5226723 [GRCh38] Chr11:5247953 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.201A>G (p.Lys67=) | single nucleotide variant | not provided [RCV000759793]|not specified [RCV005240537] | Chr11:5226691 [GRCh38] Chr11:5247921 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.221_224dup (p.Leu76fs) | duplication | not provided [RCV000759794] | Chr11:5226667..5226668 [GRCh38] Chr11:5247897..5247898 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.244C>T (p.Leu82Phe) | single nucleotide variant | not provided [RCV000759795] | Chr11:5226648 [GRCh38] Chr11:5247878 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.41C>T (p.Ala14Val) | single nucleotide variant | beta Thalassemia [RCV001835952]|not provided [RCV000759799]|not specified [RCV001194401] | Chr11:5226981 [GRCh38] Chr11:5248211 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.4(HBB):c.-75G>A | single nucleotide variant | not provided [RCV000759804] | Chr11:5227096 [GRCh38] Chr11:5248326 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.92+2T>G | single nucleotide variant | Beta zero thalassemia [RCV000016697]|beta Thalassemia [RCV001078334]|not provided [RCV000759805]|not specified [RCV001001413] | Chr11:5226928 [GRCh38] Chr11:5248158 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.93-14T>C | single nucleotide variant | not provided [RCV000759807] | Chr11:5226813 [GRCh38] Chr11:5248043 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.93-14T>A | single nucleotide variant | not provided [RCV001284495] | Chr11:5226813 [GRCh38] Chr11:5248043 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NC_000011.10:g.5225460A>C | single nucleotide variant | not provided [RCV000876346]|not specified [RCV001001384] | Chr11:5225460 [GRCh38] Chr11:5246690 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.315+125T>C | single nucleotide variant | not provided [RCV000983655] | Chr11:5226452 [GRCh38] Chr11:5247682 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+175A>T | single nucleotide variant | not provided [RCV000945047] | Chr11:5226402 [GRCh38] Chr11:5247632 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+139G>A | single nucleotide variant | not provided [RCV000945049] | Chr11:5226438 [GRCh38] Chr11:5247668 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+221G>A | single nucleotide variant | not provided [RCV000941891] | Chr11:5226356 [GRCh38] Chr11:5247586 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+109C>T | single nucleotide variant | not provided [RCV000877693] | Chr11:5226468 [GRCh38] Chr11:5247698 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+421T>C | single nucleotide variant | not provided [RCV000982376] | Chr11:5226156 [GRCh38] Chr11:5247386 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-177A>C | single nucleotide variant | not provided [RCV000981281] | Chr11:5225903 [GRCh38] Chr11:5247133 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.10:g.5225416C>T | single nucleotide variant | beta Thalassemia [RCV001078285]|not provided [RCV000870817]|not specified [RCV001001383] | Chr11:5225416 [GRCh38] Chr11:5246646 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.315+207T>A | single nucleotide variant | not provided [RCV000976381] | Chr11:5226370 [GRCh38] Chr11:5247600 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-188T>C | single nucleotide variant | not provided [RCV000928310] | Chr11:5225914 [GRCh38] Chr11:5247144 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-217T>C | single nucleotide variant | not provided [RCV000981960] | Chr11:5225943 [GRCh38] Chr11:5247173 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+308del | deletion | not provided [RCV000942110] | Chr11:5226269 [GRCh38] Chr11:5247499 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+425T>C | single nucleotide variant | not provided [RCV000929071] | Chr11:5226152 [GRCh38] Chr11:5247382 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+198del | deletion | not provided [RCV000944577] | Chr11:5226379 [GRCh38] Chr11:5247609 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.90C>A (p.Gly30=) | single nucleotide variant | not provided [RCV000925535] | Chr11:5226932 [GRCh38] Chr11:5248162 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+260A>G | single nucleotide variant | not provided [RCV000927914] | Chr11:5226317 [GRCh38] Chr11:5247547 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.292_295dup (p.Val99fs) | duplication | Hemoglobinopathy [RCV001251374]|beta Thalassemia [RCV001830660]|not provided [RCV000759064] | Chr11:5226596..5226597 [GRCh38] Chr11:5247826..5247827 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NC_000011.10:g.5218346_5226066del | deletion | beta Thalassemia [RCV001078231] | Chr11:5218346..5226066 [GRCh38] Chr11:5239576..5247296 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.170_171insGCAACCCTAAGGTG (p.Gly57_Asn58insGlnProTer) | insertion | beta Thalassemia [RCV001078249] | Chr11:5226721..5226722 [GRCh38] Chr11:5247951..5247952 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.178A>T (p.Lys60Ter) | single nucleotide variant | beta Thalassemia [RCV001078251] | Chr11:5226714 [GRCh38] Chr11:5247944 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.199A>T (p.Lys67Ter) | single nucleotide variant | beta Thalassemia [RCV001078258] | Chr11:5226693 [GRCh38] Chr11:5247923 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.316-202del | deletion | beta Thalassemia [RCV001078270] | Chr11:5225928 [GRCh38] Chr11:5247158 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.8del (p.His3fs) | deletion | Hemoglobinopathy [RCV001420874]|beta Thalassemia [RCV001078277]|not provided [RCV004998641] | Chr11:5227014 [GRCh38] Chr11:5248244 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.92+13G>T | single nucleotide variant | beta Thalassemia [RCV001078280]|not provided [RCV001438297]|not specified [RCV003331041] | Chr11:5226917 [GRCh38] Chr11:5248147 [GRCh37] Chr11:11p15.4 |
benign|likely benign|uncertain significance |
NC_000011.10:g.5225895_5227411del1517insT | indel | beta Thalassemia [RCV001078286] | Chr11:5225895..5227411 [GRCh38] Chr11:5247125..5248641 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.5226452_5228055del | deletion | beta Thalassemia [RCV001078288] | Chr11:5226452..5228055 [GRCh38] Chr11:5247682..5249285 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.5226641_5227549del | deletion | beta Thalassemia [RCV001078290] | Chr11:5226641..5227549 [GRCh38] Chr11:5247871..5248779 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.*93_*105del | deletion | beta Thalassemia [RCV001078302] | Chr11:5225493..5225505 [GRCh38] Chr11:5246723..5246735 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.107A>G (p.Tyr36Cys) | single nucleotide variant | beta Thalassemia [RCV001078303] | Chr11:5226785 [GRCh38] Chr11:5248015 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.108C>G (p.Tyr36Ter) | single nucleotide variant | beta Thalassemia [RCV001078305] | Chr11:5226784 [GRCh38] Chr11:5248014 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.206_212del (p.Leu69fs) | deletion | beta Thalassemia [RCV001078308] | Chr11:5226680..5226686 [GRCh38] Chr11:5247910..5247916 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.209del (p.Gly70fs) | deletion | beta Thalassemia [RCV001078309]|not provided [RCV001508663] | Chr11:5226683 [GRCh38] Chr11:5247913 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.210del (p.Ala71fs) | deletion | beta Thalassemia [RCV001078310] | Chr11:5226682 [GRCh38] Chr11:5247912 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.237_256del (p.Asp80fs) | deletion | beta Thalassemia [RCV001078319] | Chr11:5226636..5226655 [GRCh38] Chr11:5247866..5247885 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.244_265del (p.Asn81_Leu82insTer) | deletion | beta Thalassemia [RCV001078320] | Chr11:5226627..5226648 [GRCh38] Chr11:5247857..5247878 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.316-98_316-86dup | duplication | beta Thalassemia [RCV001078324] | Chr11:5225811..5225812 [GRCh38] Chr11:5247041..5247042 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.319C>G (p.Leu107Val) | single nucleotide variant | beta Thalassemia [RCV001078325]|not provided [RCV001284153] | Chr11:5225723 [GRCh38] Chr11:5246953 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance |
NM_000518.5(HBB):c.339T>A (p.Cys113Ter) | single nucleotide variant | beta Thalassemia [RCV001078327] | Chr11:5225703 [GRCh38] Chr11:5246933 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.349_350insTGAT (p.His117fs) | insertion | beta Thalassemia [RCV001078329] | Chr11:5225692..5225693 [GRCh38] Chr11:5246922..5246923 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.5227097T>G | single nucleotide variant | beta Thalassemia [RCV001078338] | Chr11:5227097 [GRCh38] Chr11:5248327 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.5227098T>A | single nucleotide variant | beta Thalassemia [RCV001078339] | Chr11:5227098 [GRCh38] Chr11:5248328 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.266dup (p.Ser90fs) | duplication | beta Thalassemia [RCV001078365] | Chr11:5226625..5226626 [GRCh38] Chr11:5247855..5247856 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.270_271del (p.Ser90fs) | deletion | beta Thalassemia [RCV001078367]|not provided [RCV004998642] | Chr11:5226621..5226622 [GRCh38] Chr11:5247851..5247852 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.275dup (p.His93fs) | duplication | beta Thalassemia [RCV001078370] | Chr11:5226616..5226617 [GRCh38] Chr11:5247846..5247847 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.394C>T (p.Gln132Ter) | single nucleotide variant | beta Thalassemia [RCV001078372] | Chr11:5225648 [GRCh38] Chr11:5246878 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.397A>T (p.Lys133Ter) | single nucleotide variant | beta Thalassemia [RCV001078375] | Chr11:5225645 [GRCh38] Chr11:5246875 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.429_430del (p.His144fs) | deletion | beta Thalassemia [RCV001078380] | Chr11:5225612..5225613 [GRCh38] Chr11:5246842..5246843 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.93G>C (p.Arg31Ser) | single nucleotide variant | beta Thalassemia [RCV001078384] | Chr11:5226799 [GRCh38] Chr11:5226799..5226800 [GRCh38] Chr11:5248029 [GRCh37] Chr11:5248029..5248030 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.94del (p.Leu32fs) | deletion | beta Thalassemia [RCV001078386] | Chr11:5226798 [GRCh38] Chr11:5248028 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.-122T>A | single nucleotide variant | beta Thalassemia [RCV001078393]|not provided [RCV003478697]|not specified [RCV001824922] | Chr11:5227143 [GRCh38] Chr11:5248373 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic|uncertain significance |
NC_000011.10:g.5227147G>T | single nucleotide variant | beta Thalassemia [RCV001078394] | Chr11:5227147 [GRCh38] Chr11:5248377 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.4(HBB):c.-138C>G | single nucleotide variant | beta Thalassemia [RCV001078395]|not provided [RCV003478698] | Chr11:5227159 [GRCh38] Chr11:5248389 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance |
NC_000011.10:g.5284251_5289110del | deletion | beta Thalassemia [RCV001078399] | Chr11:5284247..5289106 [GRCh38] Chr11:5305477..5310336 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.138dup (p.Gly47fs) | duplication | beta Thalassemia [RCV001078407] | Chr11:5226753..5226754 [GRCh38] Chr11:5247983..5247984 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.146del (p.Leu49fs) | deletion | beta Thalassemia [RCV001078410]|not provided [RCV003478699] | Chr11:5226746 [GRCh38] Chr11:5247976 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.165del (p.Met56fs) | deletion | beta Thalassemia [RCV001078417] | Chr11:5226727 [GRCh38] Chr11:5247957 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.166dup (p.Met56fs) | duplication | beta Thalassemia [RCV001078419] | Chr11:5226725..5226726 [GRCh38] Chr11:5247955..5247956 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.78dup (p.Glu27Ter) | duplication | beta Thalassemia [RCV001078436]|not provided [RCV001284492] | Chr11:5226943..5226944 [GRCh38] Chr11:5248173..5248174 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.(?_5225365)_(5227294_?)del | deletion | not provided [RCV001032912] | Chr11:5246595..5248524 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.(?_5225466)_(5227294_?)del | deletion | not provided [RCV001031958] | Chr11:5246696..5248524 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.*110_*111del | deletion | beta Thalassemia [RCV000780307]|not provided [RCV002477785] | Chr11:5225487..5225488 [GRCh38] Chr11:5246717..5246718 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.*65C>G | single nucleotide variant | not provided [RCV004997305]|not specified [RCV000780331] | Chr11:5225533 [GRCh38] Chr11:5246763 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.-92C>T | single nucleotide variant | not provided [RCV001800881]|not specified [RCV000780306] | Chr11:5227113 [GRCh38] Chr11:5248343 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.176del (p.Pro59fs) | deletion | Hemoglobinopathy [RCV000780313]|beta Thalassemia [RCV001825527]|not provided [RCV001284632] | Chr11:5226716 [GRCh38] Chr11:5247946 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.235del (p.Leu79fs) | deletion | Beta-plus-thalassemia [RCV002280785]|beta Thalassemia [RCV004561797]|not provided [RCV002477786]|not specified [RCV001001032] | Chr11:5226657 [GRCh38] Chr11:5247887 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.316-145G>A | single nucleotide variant | not provided [RCV001441482]|not specified [RCV000780325] | Chr11:5225871 [GRCh38] Chr11:5247101 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.316-114C>A | single nucleotide variant | not provided [RCV000985745]|not specified [RCV000780326] | Chr11:5225840 [GRCh38] Chr11:5247070 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.316-28G>C | single nucleotide variant | not provided [RCV002068538]|not specified [RCV000780327] | Chr11:5225754 [GRCh38] Chr11:5246984 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.316-192G>A | single nucleotide variant | not specified [RCV000780330] | Chr11:5225918 [GRCh38] Chr11:5247148 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*25C>G | single nucleotide variant | not provided [RCV000759062] | Chr11:5225573 [GRCh38] Chr11:5246803 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*33G>T | single nucleotide variant | not specified [RCV000781432] | Chr11:5225565 [GRCh38] Chr11:5246795 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*48T>C | single nucleotide variant | not provided [RCV001284486]|not specified [RCV000781435] | Chr11:5225550 [GRCh38] Chr11:5246780 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.323G>T (p.Gly108Val) | single nucleotide variant | not specified [RCV000781452] | Chr11:5225719 [GRCh38] Chr11:5246949 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.436T>A (p.Tyr146Asn) | single nucleotide variant | Dominant beta-thalassemia [RCV005049690]|Erythrocytosis, familial, 6 [RCV001839458]|Hemoglobinopathy [RCV000781441] | Chr11:5225606 [GRCh38] Chr11:5246836 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.316-27T>G | single nucleotide variant | not provided [RCV001481699]|not specified [RCV000781434] | Chr11:5225753 [GRCh38] Chr11:5246983 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.316-96G>A | single nucleotide variant | not provided [RCV002067379]|not specified [RCV000781436] | Chr11:5225822 [GRCh38] Chr11:5247052 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.315+2del | deletion | beta Thalassemia [RCV000781446]|not provided [RCV004997308] | Chr11:5226575 [GRCh38] Chr11:5247805 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.316-171_316-170del | microsatellite | not specified [RCV000781448] | Chr11:5225896..5225897 [GRCh38] Chr11:5247126..5247127 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-102C>A | single nucleotide variant | not provided [RCV001411910]|not specified [RCV000781458] | Chr11:5225828 [GRCh38] Chr11:5247058 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.316-149_*132del | deletion | not provided [RCV000817298] | Chr11:5225466..5225875 [GRCh38] Chr11:5246696..5247105 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.316-42C>T | single nucleotide variant | not provided [RCV000944595]|not specified [RCV005236467] | Chr11:5225768 [GRCh38] Chr11:5246998 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+204_315+208del | deletion | not provided [RCV000930767] | Chr11:5226369..5226373 [GRCh38] Chr11:5247599..5247603 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+171A>G | single nucleotide variant | not provided [RCV000873064] | Chr11:5226406 [GRCh38] Chr11:5247636 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.10:g.5227269T>C | single nucleotide variant | not provided [RCV000861504] | Chr11:5227269 [GRCh38] Chr11:5248499 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.315+189T>C | single nucleotide variant | not provided [RCV000928332] | Chr11:5226388 [GRCh38] Chr11:5247618 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+205T>G | single nucleotide variant | not provided [RCV000979389] | Chr11:5226372 [GRCh38] Chr11:5247602 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-295C>T | single nucleotide variant | not provided [RCV000943074] | Chr11:5226021 [GRCh38] Chr11:5247251 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+362G>A | single nucleotide variant | not provided [RCV000982119] | Chr11:5226215 [GRCh38] Chr11:5247445 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-147A>C | single nucleotide variant | not provided [RCV000975578] | Chr11:5225873 [GRCh38] Chr11:5247103 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+118G>C | single nucleotide variant | not provided [RCV000979554] | Chr11:5226459 [GRCh38] Chr11:5247689 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-368T>G | single nucleotide variant | not provided [RCV000944996] | Chr11:5226094 [GRCh38] Chr11:5247324 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-18C>T | single nucleotide variant | not provided [RCV000978303] | Chr11:5226817 [GRCh38] Chr11:5248047 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+220C>T | single nucleotide variant | not provided [RCV000878914] | Chr11:5226357 [GRCh38] Chr11:5247587 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.315+337A>G | single nucleotide variant | not provided [RCV000931809] | Chr11:5226240 [GRCh38] Chr11:5247470 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-341T>C | single nucleotide variant | not provided [RCV000979794] | Chr11:5226067 [GRCh38] Chr11:5247297 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+334A>C | single nucleotide variant | not provided [RCV000943557] | Chr11:5226243 [GRCh38] Chr11:5247473 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-272G>C | single nucleotide variant | beta Thalassemia [RCV001078273]|not provided [RCV000978597] | Chr11:5225998 [GRCh38] Chr11:5247228 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000518.5(HBB):c.315+380T>C | single nucleotide variant | not provided [RCV000860976] | Chr11:5226197 [GRCh38] Chr11:5247427 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.92+47T>G | single nucleotide variant | not provided [RCV000928546] | Chr11:5226883 [GRCh38] Chr11:5248113 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.315+142C>T | single nucleotide variant | not provided [RCV000981140] | Chr11:5226435 [GRCh38] Chr11:5247665 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+272A>G | single nucleotide variant | not provided [RCV000981141] | Chr11:5226305 [GRCh38] Chr11:5247535 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+180T>C | single nucleotide variant | not provided [RCV000861198] | Chr11:5226397 [GRCh38] Chr11:5247627 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.315+377C>T | single nucleotide variant | not provided [RCV000941173] | Chr11:5226200 [GRCh38] Chr11:5247430 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-95C>T | single nucleotide variant | not provided [RCV000980487] | Chr11:5225821 [GRCh38] Chr11:5247051 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-36C>T | single nucleotide variant | not provided [RCV000983203] | Chr11:5225762 [GRCh38] Chr11:5246992 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+1G>T | single nucleotide variant | beta Thalassemia [RCV001170018]|not provided [RCV000759065] | Chr11:5226576 [GRCh38] Chr11:5247806 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.316-3C>G | single nucleotide variant | Beta zero thalassemia [RCV000016767]|beta Thalassemia [RCV001078322]|not provided [RCV000759068] | Chr11:5225729 [GRCh38] Chr11:5246959 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.315+204_315+207del | microsatellite | not provided [RCV000944217] | Chr11:5226370..5226373 [GRCh38] Chr11:5247600..5247603 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-179A>C | single nucleotide variant | beta Thalassemia [RCV003315253]|not provided [RCV000937128]|not specified [RCV000780328] | Chr11:5225905 [GRCh38] Chr11:5247135 [GRCh37] Chr11:11p15.4 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.93-21_96del | deletion | beta Thalassemia [RCV000780332] | Chr11:5226796..5226820 [GRCh38] Chr11:5248026..5248050 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.10C>A (p.Leu4Met) | single nucleotide variant | beta Thalassemia [RCV001272130]|not specified [RCV000780309] | Chr11:5227012 [GRCh38] Chr11:5248242 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*73T>C | single nucleotide variant | not provided [RCV004997306]|not specified [RCV000780334] | Chr11:5225525 [GRCh38] Chr11:5246755 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-369G>A | single nucleotide variant | beta Thalassemia [RCV001029971]|not provided [RCV002067713] | Chr11:5226095 [GRCh38] Chr11:5247325 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.190C>A (p.His64Asn) | single nucleotide variant | HEMOGLOBIN HANA [RCV000855777]|METHEMOGLOBINEMIA, BETA TYPE [RCV005208152] | Chr11:5226702 [GRCh38] Chr11:5247932 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.(?_5226567)_(5227294_?)del | deletion | not provided [RCV000792154] | Chr11:5226567..5227294 [GRCh38] Chr11:5247797..5248524 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.316-150C>A | single nucleotide variant | not provided [RCV000976401] | Chr11:5225876 [GRCh38] Chr11:5247106 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.10:g.(?_5225365)_(5225905_?)del | deletion | not provided [RCV000796786] | Chr11:5225365..5225905 [GRCh38] Chr11:5246595..5247135 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.120G>C (p.Gln40His) | single nucleotide variant | not provided [RCV000985735] | Chr11:5226772 [GRCh38] Chr11:5248002 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.294C>G (p.His98Gln) | single nucleotide variant | not provided [RCV000985742] | Chr11:5226598 [GRCh38] Chr11:5247828 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.316-138G>T | single nucleotide variant | not provided [RCV000985747] | Chr11:5225864 [GRCh38] Chr11:5247094 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.4(HBB):c.-91A>C | single nucleotide variant | beta Thalassemia [RCV001078345]|not provided [RCV000985757] | Chr11:5227112 [GRCh38] Chr11:5248342 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance |
NM_000518.5(HBB):c.315+70G>C | single nucleotide variant | not provided [RCV000943024]|not specified [RCV001000145] | Chr11:5226507 [GRCh38] Chr11:5247737 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000518.5(HBB):c.12G>C (p.Leu4=) | single nucleotide variant | not provided [RCV000977999] | Chr11:5227010 [GRCh38] Chr11:5248240 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+408T>C | single nucleotide variant | not provided [RCV000871917] | Chr11:5226169 [GRCh38] Chr11:5247399 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-40C>T | single nucleotide variant | beta Thalassemia [RCV001787120]|not provided [RCV000979851]|not specified [RCV001001326] | Chr11:5226839 [GRCh38] Chr11:5248069 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+9A>G | single nucleotide variant | not provided [RCV001408622]|not specified [RCV001194399] | Chr11:5226568 [GRCh38] Chr11:5247798 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.316-71G>T | single nucleotide variant | not provided [RCV000976344] | Chr11:5225797 [GRCh38] Chr11:5247027 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.4(HBB):c.*160A>G | single nucleotide variant | not provided [RCV000985734] | Chr11:5225438 [GRCh38] Chr11:5246668 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.-121C>T | single nucleotide variant | beta Thalassemia [RCV001078347]|not provided [RCV000985736] | Chr11:5227142 [GRCh38] Chr11:5248372 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.216T>A (p.Phe72Leu) | single nucleotide variant | not provided [RCV000985738] | Chr11:5226676 [GRCh38] Chr11:5247906 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.4(chr11:5187270-5262621)x1 | copy number loss | not provided [RCV001006380] | Chr11:5187270..5262621 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.4(chr11:5112523-5336304)x1 | copy number loss | not provided [RCV001006377] | Chr11:5112523..5336304 [GRCh37] Chr11:11p15.4 |
pathogenic |
GRCh37/hg19 11p15.4(chr11:5132252-5251954)x1 | copy number loss | not provided [RCV001006378] | Chr11:5132252..5251954 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*129T>A | single nucleotide variant | Dominant beta-thalassemia [RCV005049722]|not provided [RCV000985733] | Chr11:5225469 [GRCh38] Chr11:5246699 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-290_316-274del | deletion | not provided [RCV000985749] | Chr11:5226000..5226016 [GRCh38] Chr11:5247230..5247246 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-332_316-328del | deletion | not provided [RCV000985750] | Chr11:5226054..5226058 [GRCh38] Chr11:5247284..5247288 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.427G>A (p.Ala143Thr) | single nucleotide variant | not provided [RCV000985753]|not specified [RCV004768759] | Chr11:5225615 [GRCh38] Chr11:5246845 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.21G>A (p.Glu7=) | single nucleotide variant | not provided [RCV003718388]|not specified [RCV001201249] | Chr11:5227001 [GRCh38] Chr11:5248231 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.145_146insATCT (p.Leu49fs) | insertion | not specified [RCV001002480] | Chr11:5226746..5226747 [GRCh38] Chr11:5247976..5247977 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.167T>C (p.Met56Thr) | single nucleotide variant | beta Thalassemia [RCV001833742]|not specified [RCV001193155] | Chr11:5226725 [GRCh38] Chr11:5247955 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.12G>A (p.Leu4=) | single nucleotide variant | not specified [RCV003317771] | Chr11:5227010 [GRCh38] Chr11:5248240 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.9:g.(5248030_5248159)_(5254322_5255220)del | deletion | Hemoglobinopathy [RCV003317772] | Chr11:5248159..5254322 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.316-124A>T | single nucleotide variant | not provided [RCV000985746]|not specified [RCV002222650] | Chr11:5225850 [GRCh38] Chr11:5247080 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.117C>T (p.Thr39=) | single nucleotide variant | not provided [RCV002069213]|not specified [RCV001193153] | Chr11:5226775 [GRCh38] Chr11:5248005 [GRCh37] Chr11:11p15.4 |
likely benign |
GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3 | copy number gain | See cases [RCV003317674] | Chr11:5094756..5785959 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.402G>A (p.Val134=) | single nucleotide variant | Dominant beta-thalassemia [RCV002489263]|Inborn genetic diseases [RCV002354818]|not provided [RCV000941015] | Chr11:5225640 [GRCh38] Chr11:5246870 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-373C>A | single nucleotide variant | beta Thalassemia [RCV001078321]|not provided [RCV000860878] | Chr11:5226099 [GRCh38] Chr11:5247329 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.316-381G>A | single nucleotide variant | not provided [RCV000954496] | Chr11:5226107 [GRCh38] Chr11:5247337 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+15C>T | single nucleotide variant | not provided [RCV000941302] | Chr11:5226562 [GRCh38] Chr11:5247792 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-120C>G | single nucleotide variant | not provided [RCV000980339] | Chr11:5225846 [GRCh38] Chr11:5247076 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+36C>A | single nucleotide variant | not provided [RCV000931095] | Chr11:5226894 [GRCh38] Chr11:5248124 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-26T>G | single nucleotide variant | not provided [RCV000931835] | Chr11:5225752 [GRCh38] Chr11:5246982 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+80A>T | single nucleotide variant | not provided [RCV000978722] | Chr11:5226497 [GRCh38] Chr11:5247727 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+156T>C | single nucleotide variant | not provided [RCV000981095] | Chr11:5226421 [GRCh38] Chr11:5247651 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+203T>C | single nucleotide variant | not provided [RCV000941619] | Chr11:5226374 [GRCh38] Chr11:5247604 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+34C>T | single nucleotide variant | not provided [RCV000932819] | Chr11:5226543 [GRCh38] Chr11:5247773 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+293G>A | single nucleotide variant | not provided [RCV000932847] | Chr11:5226284 [GRCh38] Chr11:5247514 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.-273T>C | single nucleotide variant | Dominant beta-thalassemia [RCV002507457]|not provided [RCV000860863] | Chr11:5227294 [GRCh38] Chr11:5248524 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000518.5(HBB):c.316-323T>C | single nucleotide variant | not provided [RCV000932941] | Chr11:5226049 [GRCh38] Chr11:5247279 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+132G>C | single nucleotide variant | not provided [RCV000978744] | Chr11:5226445 [GRCh38] Chr11:5247675 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+335C>G | single nucleotide variant | not provided [RCV000943999] | Chr11:5226242 [GRCh38] Chr11:5247472 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.165T>C (p.Val55=) | single nucleotide variant | Inborn genetic diseases [RCV003380797]|not provided [RCV000982633]|not specified [RCV003387950] | Chr11:5226727 [GRCh38] Chr11:5247957 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.10:g.5225352T>C | single nucleotide variant | not provided [RCV000874403] | Chr11:5225352 [GRCh38] Chr11:5246582 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.300T>A (p.Asp100Glu) | single nucleotide variant | Erythrocytosis, familial, 6 [RCV001175128]|not specified [RCV003226436] | Chr11:5226592 [GRCh38] Chr11:5247822 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance |
NM_000518.5(HBB):c.316_*132del (p.Leu106_Ter148del) | deletion | not provided [RCV001069159] | Chr11:5225466..5225726 [GRCh38] Chr11:5246696..5246956 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.-4C>T | single nucleotide variant | beta Thalassemia [RCV001833733]|not provided [RCV003478703]|not specified [RCV001175411] | Chr11:5227025 [GRCh38] Chr11:5248255 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.187_251dup (p.Thr85fs) | duplication | beta Thalassemia [RCV001078255] | Chr11:5226640..5226641 [GRCh38] Chr11:5247870..5247871 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.189_195del (p.His64fs) | deletion | beta Thalassemia [RCV001078256] | Chr11:5226697..5226703 [GRCh38] Chr11:5247927..5247933 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.5226948_5227485del | deletion | beta Thalassemia [RCV001078291] | Chr11:5226948..5227485 [GRCh38] Chr11:5248178..5248715 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.5227096C>A | single nucleotide variant | beta Thalassemia [RCV001078295] | Chr11:5227096 [GRCh38] Chr11:5248326 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.*32A>C | single nucleotide variant | beta Thalassemia [RCV001078301] | Chr11:5225566 [GRCh38] Chr11:5246796 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.339_345dup (p.Ala116fs) | duplication | beta Thalassemia [RCV001078326] | Chr11:5225696..5225697 [GRCh38] Chr11:5246926..5246927 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.33del (p.Val12fs) | deletion | beta Thalassemia [RCV001078328] | Chr11:5226989 [GRCh38] Chr11:5248219 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.354del (p.Phe119fs) | deletion | beta Thalassemia [RCV001078330] | Chr11:5225688 [GRCh38] Chr11:5246918 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.375dup (p.Pro126fs) | duplication | beta Thalassemia [RCV001078332] | Chr11:5225666..5225667 [GRCh38] Chr11:5246896..5246897 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.130dup (p.Glu44fs) | duplication | beta Thalassemia [RCV001078357] | Chr11:5226761..5226762 [GRCh38] Chr11:5247991..5247992 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.24dup (p.Lys9fs) | duplication | beta Thalassemia [RCV001078359] | Chr11:5226997..5226998 [GRCh38] Chr11:5248227..5248228 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.253_260del (p.Thr85fs) | deletion | beta Thalassemia [RCV001078360] | Chr11:5226632..5226639 [GRCh38] Chr11:5247862..5247869 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.266_267del (p.Leu89fs) | deletion | beta Thalassemia [RCV001078364] | Chr11:5226625..5226626 [GRCh38] Chr11:5247855..5247856 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.158del (p.Asp53fs) | deletion | beta Thalassemia [RCV001078414] | Chr11:5226734 [GRCh38] Chr11:5247964 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.163dup (p.Val55fs) | duplication | beta Thalassemia [RCV001078415] | Chr11:5226728..5226729 [GRCh38] Chr11:5247958..5247959 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.315+255T>C | single nucleotide variant | beta Thalassemia [RCV001078424]|not provided [RCV001430727] | Chr11:5226322 [GRCh38] Chr11:5247552 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000518.5(HBB):c.67G>T (p.Glu23Ter) | single nucleotide variant | beta Thalassemia [RCV001078431]|not provided [RCV001862655] | Chr11:5226955 [GRCh38] Chr11:5248185 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.68_74del (p.Glu23fs) | deletion | beta Thalassemia [RCV001078432]|not provided [RCV003558658] | Chr11:5226948..5226954 [GRCh38] Chr11:5248178..5248184 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.333G>A (p.Leu111=) | single nucleotide variant | not provided [RCV000985751] | Chr11:5225709 [GRCh38] Chr11:5246939 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.393T>A (p.Tyr131Ter) | single nucleotide variant | not provided [RCV000985752] | Chr11:5225649 [GRCh38] Chr11:5246879 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.394_404del (p.Gln132fs) | deletion | Dominant beta-thalassemia [RCV001549283] | Chr11:5225638..5225648 [GRCh38] Chr11:5246868..5246878 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.-83G>A | single nucleotide variant | not provided [RCV003477070]|not specified [RCV003236445] | Chr11:5227104 [GRCh38] Chr11:5248334 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*51G>A | single nucleotide variant | not specified [RCV002469984] | Chr11:5225547 [GRCh38] Chr11:5246777 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 | copy number gain | not provided [RCV001006372] | Chr11:235934..33826995 [GRCh37] Chr11:11p15.5-13 |
pathogenic |
GRCh37/hg19 11p15.4(chr11:5187269-5268465)x1 | copy number loss | not provided [RCV001006379] | Chr11:5187269..5268465 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance |
NM_000518.5(HBB):c.85C>T (p.Leu29=) | single nucleotide variant | Fetal hemoglobin quantitative trait locus 1 [RCV001107680]|Hb SS disease [RCV001107683]|Hemoglobin E [RCV001107682]|beta Thalassemia [RCV001107681]|not provided [RCV002069760]|not specified [RCV001174809] | Chr11:5226937 [GRCh38] Chr11:5248167 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.4:c.[316-12T>C;316-7C>A] | variation | beta Thalassemia [RCV001078143] | pathogenic | |
NM_000518.5(HBB):c.396_397del (p.Lys133fs) | deletion | Hemoglobinopathy [RCV001193150] | Chr11:5225645..5225646 [GRCh38] Chr11:5246875..5246876 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.316-28G>A | single nucleotide variant | not provided [RCV001428014]|not specified [RCV001000578] | Chr11:5225754 [GRCh38] Chr11:5246984 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.*59A>G | single nucleotide variant | Fetal hemoglobin quantitative trait locus 1 [RCV001105803]|Hb SS disease [RCV001105804]|Hemoglobin E [RCV001105802]|beta Thalassemia [RCV001105805] | Chr11:5225539 [GRCh38] Chr11:5246769 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.87G>C (p.Leu29=) | single nucleotide variant | not specified [RCV001193154] | Chr11:5226935 [GRCh38] Chr11:5248165 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.19G>T (p.Glu7Ter) | single nucleotide variant | beta Thalassemia [RCV001078259] | Chr11:5227003 [GRCh38] Chr11:5248233 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.316-208C>G | single nucleotide variant | beta Thalassemia [RCV001078271]|not provided [RCV002069599] | Chr11:5225934 [GRCh38] Chr11:5247164 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000518.5(HBB):c.8_16delinsCTGAGGTGAAGTCTGCCTGAGGAGAAGT (p.His3_Pro6delinsProGluValLysSerAlaTer) | indel | beta Thalassemia [RCV001078274] | Chr11:5227006..5227014 [GRCh38] Chr11:5248236..5248244 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.92+1G>C | single nucleotide variant | beta Thalassemia [RCV001078281] | Chr11:5226929 [GRCh38] Chr11:5248159 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.5226164_5227556del | deletion | beta Thalassemia [RCV001078287] | Chr11:5226163..5227555 [GRCh38] Chr11:5247393..5248785 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.123del (p.Arg41fs) | deletion | beta Thalassemia [RCV001078352] | Chr11:5226769 [GRCh38] Chr11:5247999 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.129del (p.Phe43fs) | deletion | beta Thalassemia [RCV001078355] | Chr11:5226763 [GRCh38] Chr11:5247993 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.27_28insAGAA (p.Ser10fs) | insertion | beta Thalassemia [RCV001078366] | Chr11:5226994..5226995 [GRCh38] Chr11:5248224..5248225 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.272_295dup (p.Glu91_His98dup) | duplication | beta Thalassemia [RCV001078369] | Chr11:5226596..5226597 [GRCh38] Chr11:5247826..5247827 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.165_177del (p.Met56fs) | deletion | beta Thalassemia [RCV001078416] | Chr11:5226715..5226727 [GRCh38] Chr11:5247945..5247957 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.74delinsCAC (p.Gly25fs) | indel | beta Thalassemia [RCV001078434] | Chr11:5226948 [GRCh38] Chr11:5248178 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.241A>T (p.Asn81Tyr) | single nucleotide variant | beta Thalassemia [RCV001827533]|not specified [RCV001582349] | Chr11:5226651 [GRCh38] Chr11:5247881 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NC_000011.10:g.5227562T>G | single nucleotide variant | not provided [RCV001652869] | Chr11:5227562 [GRCh38] Chr11:5248792 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.307A>G (p.Asn103Asp) | single nucleotide variant | not specified [RCV001002299] | Chr11:5226585 [GRCh38] Chr11:5247815 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.176dup (p.Pro59_Lys60insTer) | duplication | beta Thalassemia [RCV001078250] | Chr11:5226715..5226716 [GRCh38] Chr11:5247945..5247946 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.18_19del (p.Glu7fs) | deletion | beta Thalassemia [RCV001078253] | Chr11:5227003..5227004 [GRCh38] Chr11:5248233..5248234 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.1A>C (p.Met1Leu) | single nucleotide variant | beta Thalassemia [RCV001078260]|not provided [RCV001811644] | Chr11:5227021 [GRCh38] Chr11:5248251 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.20_45del (p.Glu7fs) | deletion | beta Thalassemia [RCV001078263] | Chr11:5226977..5227002 [GRCh38] Chr11:5248207..5248232 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.316-1del | deletion | beta Thalassemia [RCV001078267] | Chr11:5225727 [GRCh38] Chr11:5246957 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.316-272G>T | single nucleotide variant | beta Thalassemia [RCV001078272]|not provided [RCV001473536] | Chr11:5225998 [GRCh38] Chr11:5247228 [GRCh37] Chr11:11p15.4 |
benign|likely benign |
NM_000518.5(HBB):c.91A>G (p.Arg31Gly) | single nucleotide variant | beta Thalassemia [RCV001078278]|not provided [RCV005232121] | Chr11:5226931 [GRCh38] Chr11:5248161 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.4(HBB):c.316-281_*209del619 | deletion | beta Thalassemia [RCV001078284] | Chr11:5225389..5226007 [GRCh38] Chr11:5246619..5247237 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.5226992_5227096del | deletion | beta Thalassemia [RCV001078292] | Chr11:5226991..5227095 [GRCh38] Chr11:5248221..5248325 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.5226994_5227525del | deletion | beta Thalassemia [RCV001078293] | Chr11:5226994..5227525 [GRCh38] Chr11:5248224..5248755 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.*108A>G | single nucleotide variant | beta Thalassemia [RCV001078298] | Chr11:5225490 [GRCh38] Chr11:5246720 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.216del (p.Phe72fs) | deletion | beta Thalassemia [RCV001078311] | Chr11:5226676 [GRCh38] Chr11:5247906 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.22G>T (p.Glu8Ter) | single nucleotide variant | beta Thalassemia [RCV001078316]|not provided [RCV003478695] | Chr11:5227000 [GRCh38] Chr11:5248230 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.235dup (p.Leu79fs) | duplication | beta Thalassemia [RCV001078318] | Chr11:5226656..5226657 [GRCh38] Chr11:5247886..5247887 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.4(HBB):c.-79A>C | single nucleotide variant | beta Thalassemia [RCV001078340]|not provided [RCV003478696] | Chr11:5227100 [GRCh38] Chr11:5248330 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.11dup (p.Thr5fs) | duplication | beta Thalassemia [RCV001078351] | Chr11:5227010..5227011 [GRCh38] Chr11:5248240..5248241 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.126del (p.Phe43fs) | deletion | beta Thalassemia [RCV001078354]|not provided [RCV001053496] | Chr11:5226766 [GRCh38] Chr11:5247996 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.255dup (p.Phe86fs) | duplication | beta Thalassemia [RCV001078361] | Chr11:5226636..5226637 [GRCh38] Chr11:5247866..5247867 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.265_266del (p.Leu89fs) | deletion | beta Thalassemia [RCV001078363] | Chr11:5226626..5226627 [GRCh38] Chr11:5247856..5247857 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.395dup (p.Lys133fs) | duplication | beta Thalassemia [RCV001078373] | Chr11:5225646..5225647 [GRCh38] Chr11:5246876..5246877 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.3G>C (p.Met1Ile) | single nucleotide variant | beta Thalassemia [RCV001078377] | Chr11:5227019 [GRCh38] Chr11:5248249 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.417dup (p.Asn140Ter) | duplication | beta Thalassemia [RCV001078379] | Chr11:5225624..5225625 [GRCh38] Chr11:5246854..5246855 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.44del (p.Leu15fs) | deletion | beta Thalassemia [RCV001078381] | Chr11:5226978 [GRCh38] Chr11:5248208 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.44dup (p.Trp16fs) | duplication | beta Thalassemia [RCV001078382] | Chr11:5226977..5226978 [GRCh38] Chr11:5248207..5248208 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.5227411G>A | single nucleotide variant | beta Thalassemia [RCV001078397]|not provided [RCV001594409] | Chr11:5227411 [GRCh38] Chr11:5248641 [GRCh37] Chr11:11p15.4 |
benign |
NC_000011.10:g.5227540G>A | single nucleotide variant | beta Thalassemia [RCV001078398]|not provided [RCV001683733] | Chr11:5227540 [GRCh38] Chr11:5248770 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.142dup (p.Asp48fs) | duplication | beta Thalassemia [RCV001078408] | Chr11:5226749..5226750 [GRCh38] Chr11:5247979..5247980 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.28_29insTA (p.Ser10fs) | insertion | Beta-plus-thalassemia [RCV002280787]|beta Thalassemia [RCV001078420] | Chr11:5226993..5226994 [GRCh38] Chr11:5248223..5248224 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.301_302delinsTCTGAGAACTT (p.Pro101delinsSerGluAsnPhe) | indel | beta Thalassemia [RCV001078421] | Chr11:5226590..5226591 [GRCh38] Chr11:5247820..5247821 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.30dup (p.Ala11fs) | duplication | beta Thalassemia [RCV001078422]|not provided [RCV001269760] | Chr11:5226991..5226992 [GRCh38] Chr11:5248221..5248222 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.315+1del | deletion | beta Thalassemia [RCV001078423] | Chr11:5226576 [GRCh38] Chr11:5247806 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.315+2T>C | single nucleotide variant | beta Thalassemia [RCV001078425] | Chr11:5226575 [GRCh38] Chr11:5247805 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.315+5G>C | single nucleotide variant | beta Thalassemia [RCV001078427]|not provided [RCV003327489] | Chr11:5226572 [GRCh38] Chr11:5247802 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.316-12T>C | single nucleotide variant | not provided [RCV001419630]|not specified [RCV001000151] | Chr11:5225738 [GRCh38] Chr11:5246968 [GRCh37] Chr11:11p15.4 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.279_280insGTGG (p.Cys94fs) | insertion | not provided [RCV001027525] | Chr11:5226612..5226613 [GRCh38] Chr11:5247842..5247843 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.118C>A (p.Gln40Lys) | single nucleotide variant | HEMOGLOBIN ALABAMA [RCV002280786]|not provided [RCV001811595] | Chr11:5226774 [GRCh38] Chr11:5248004 [GRCh37] Chr11:11p15.4 |
uncertain significance|other |
NM_000518.5(HBB):c.351T>C (p.His117=) | single nucleotide variant | not specified [RCV001174683] | Chr11:5225691 [GRCh38] Chr11:5246921 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-81T>A | single nucleotide variant | not provided [RCV002069258]|not specified [RCV001194400] | Chr11:5225807 [GRCh38] Chr11:5247037 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NC_000011.10:g.5216940_5229551del | deletion | beta Thalassemia [RCV001078230] | pathogenic | |
NM_000518.5(HBB):c.20_32del (p.Glu7fs) | deletion | beta Thalassemia [RCV001078262] | Chr11:5226990..5227002 [GRCh38] Chr11:5248220..5248232 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.85del (p.Leu29fs) | deletion | beta Thalassemia [RCV001078275] | Chr11:5226937 [GRCh38] Chr11:5248167 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.5225158_5227199del2042insCTTAT | indel | beta Thalassemia [RCV001078282] | Chr11:5225158..5227199 [GRCh38] Chr11:5246388..5248429 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.-22_23dup (p.Glu8delinsAspTer) | duplication | beta Thalassemia [RCV001078294] | Chr11:5226998..5226999 [GRCh38] Chr11:5248228..5248229 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.111_118del (p.Trp38fs) | deletion | beta Thalassemia [RCV001078306] | Chr11:5226774..5226781 [GRCh38] Chr11:5248004..5248011 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.219dup (p.Asp74Ter) | duplication | beta Thalassemia [RCV001078314] | Chr11:5226672..5226673 [GRCh38] Chr11:5247902..5247903 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.229_230del (p.Ala77fs) | deletion | beta Thalassemia [RCV001078315] | Chr11:5226662..5226663 [GRCh38] Chr11:5247892..5247893 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.378del (p.Val127fs) | deletion | beta Thalassemia [RCV001078333] | Chr11:5225664 [GRCh38] Chr11:5246894 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.-80T>C | single nucleotide variant | Beta-plus-thalassemia [RCV000016726]|beta Thalassemia [RCV001078342]|not provided [RCV001284493] | Chr11:5227101 [GRCh38] Chr11:5248331 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.5227131_5227256del | deletion | beta Thalassemia [RCV001078346] | Chr11:5227131..5227256 [GRCh38] Chr11:5248361..5248486 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.129dup (p.Glu44Ter) | duplication | Hemoglobinopathy [RCV001293624]|beta Thalassemia [RCV001078356] | Chr11:5226762..5226763 [GRCh38] Chr11:5247992..5247993 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.92_94dup (p.Arg31dup) | duplication | Dominant beta-thalassemia [RCV001732037]|beta Thalassemia [RCV001078385] | Chr11:5226797..5226798 [GRCh38] Chr11:5248027..5248028 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.166del (p.Met56fs) | deletion | beta Thalassemia [RCV001078418]|not provided [RCV001284631] | Chr11:5226726 [GRCh38] Chr11:5247956 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.50dup (p.Lys18fs) | duplication | beta Thalassemia [RCV001078430] | Chr11:5226971..5226972 [GRCh38] Chr11:5248201..5248202 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.74del (p.Gly25fs) | deletion | beta Thalassemia [RCV001078433]|not provided [RCV003558659] | Chr11:5226948 [GRCh38] Chr11:5248178 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.316-60C>T | single nucleotide variant | not specified [RCV001201182] | Chr11:5225786 [GRCh38] Chr11:5247016 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*18C>A | single nucleotide variant | Fetal hemoglobin quantitative trait locus 1 [RCV001107577]|Hb SS disease [RCV001107579]|Hemoglobin E [RCV001106914]|beta Thalassemia [RCV001107578] | Chr11:5225580 [GRCh38] Chr11:5246810 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.51C>T (p.Gly17=) | single nucleotide variant | not provided [RCV001811615] | Chr11:5226971 [GRCh38] Chr11:5248201 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.179del (p.Lys60fs) | deletion | beta Thalassemia [RCV001078252] | Chr11:5226713 [GRCh38] Chr11:5247943 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.89del (p.Gly30fs) | deletion | beta Thalassemia [RCV001078276] | Chr11:5226933 [GRCh38] Chr11:5248163 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.91del (p.Arg31fs) | deletion | beta Thalassemia [RCV001078279] | Chr11:5226931 [GRCh38] Chr11:5248161 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.-35A>G | single nucleotide variant | beta Thalassemia [RCV001078297] | Chr11:5227056 [GRCh38] Chr11:5248286 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.*115_*116del | deletion | beta Thalassemia [RCV001078300] | Chr11:5225482..5225483 [GRCh38] Chr11:5246712..5246713 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.232del (p.His78fs) | deletion | beta Thalassemia [RCV001078317] | Chr11:5226660 [GRCh38] Chr11:5247890 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.5227101A>C | single nucleotide variant | beta Thalassemia [RCV001078341] | Chr11:5227101 [GRCh38] Chr11:5248331 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.118del (p.Gln40fs) | deletion | beta Thalassemia [RCV001078350] | Chr11:5226774 [GRCh38] Chr11:5248004 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.125dup (p.Phe43fs) | duplication | beta Thalassemia [RCV001078353] | Chr11:5226766..5226767 [GRCh38] Chr11:5247996..5247997 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.244del (p.Leu82fs) | deletion | beta Thalassemia [RCV001078358] | Chr11:5226648 [GRCh38] Chr11:5247878 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.258dup (p.Ala87fs) | duplication | beta Thalassemia [RCV001078362] | Chr11:5226633..5226634 [GRCh38] Chr11:5247863..5247864 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.3G>T (p.Met1Ile) | single nucleotide variant | beta Thalassemia [RCV001078378]|not provided [RCV004998643] | Chr11:5227019 [GRCh38] Chr11:5248249 [GRCh37] Chr11:11p15.4 |
pathogenic|likely pathogenic |
NM_000518.5(HBB):c.138del (p.Phe46fs) | deletion | Beta-thalassemia HBB/LCRB [RCV004689989]|Dominant beta-thalassemia [RCV001809980]|Hemoglobinopathy [RCV001420867]|beta Thalassemia [RCV001078406] | Chr11:5226754 [GRCh38] Chr11:5247984 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.150del (p.Thr51fs) | deletion | beta Thalassemia [RCV001078411] | Chr11:5226742 [GRCh38] Chr11:5247972 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.153del (p.Pro52fs) | deletion | beta Thalassemia [RCV001078412] | Chr11:5226739 [GRCh38] Chr11:5247969 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.50del (p.Gly17fs) | deletion | beta Thalassemia [RCV001078429] | Chr11:5226972 [GRCh38] Chr11:5248202 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.(?_5246695)_(5248302_?)del | deletion | beta Thalassemia [RCV001254848] | Chr11:5246695..5248302 [GRCh38] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.5246486_5247105delinsTCTACTT | indel | Beta thalassemia major [RCV001254849] | Chr11:5246486..5247104 [GRCh38] Chr11:5267716..5268334 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.154C>A (p.Pro52Thr) | single nucleotide variant | not provided [RCV001284629] | Chr11:5226738 [GRCh38] Chr11:5247968 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.378_379del (p.Val127fs) | deletion | not provided [RCV001284156] | Chr11:5225663..5225664 [GRCh38] Chr11:5246893..5246894 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.316-198G>A | single nucleotide variant | HBB-related disorder [RCV004538544]|not provided [RCV001504254]|not specified [RCV001260333] | Chr11:5225924 [GRCh38] Chr11:5247154 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.-21T>C | single nucleotide variant | not provided [RCV004998781]|not specified [RCV001260423] | Chr11:5227042 [GRCh38] Chr11:5248272 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*47C>T | single nucleotide variant | not specified [RCV001264427] | Chr11:5225551 [GRCh38] Chr11:5246781 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-85A>G | single nucleotide variant | not provided [RCV002069381]|not specified [RCV001264464] | Chr11:5225811 [GRCh38] Chr11:5247041 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NC_000011.10:g.(?_5225465)_(5227072_?)del | deletion | beta Thalassemia [RCV001261501] | Chr11:5246695..5248302 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.9:g.(5246957_5247806)_(5248302_?)del | deletion | beta Thalassemia [RCV001264539] | Chr11:5247806..5248302 [GRCh37] Chr11:11p15.4 |
pathogenic |
GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3 | copy number gain | Silver-Russell syndrome 1 [RCV001263222] | Chr11:210300..8664358 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_000518.5(HBB):c.40G>A (p.Ala14Thr) | single nucleotide variant | beta Thalassemia [RCV001289993] | Chr11:5226982 [GRCh38] Chr11:5248212 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.389_401del (p.Ala130fs) | deletion | not provided [RCV002284330] | Chr11:5225641..5225653 [GRCh38] Chr11:5246871..5246883 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NC_000011.10:g.5225256_5225875delinsTCTACTT | indel | Beta-thalassemia major [RCV001261502]|Inborn genetic diseases [RCV002322173] | Chr11:5225256..5225875 [GRCh38] Chr11:5246486..5247105 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.316-99del | deletion | not provided [RCV001458446]|not specified [RCV001260337] | Chr11:5225825 [GRCh38] Chr11:5247055 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.373C>A (p.Pro125Thr) | single nucleotide variant | beta Thalassemia [RCV001289992] | Chr11:5225669 [GRCh38] Chr11:5246899 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.315+14_315+15insGG | insertion | not provided [RCV001283993] | Chr11:5226562..5226563 [GRCh38] Chr11:5247792..5247793 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-113_316-103del | deletion | not provided [RCV001283994] | Chr11:5225829..5225839 [GRCh38] Chr11:5247059..5247069 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-210T>A | single nucleotide variant | not provided [RCV001283995] | Chr11:5225936 [GRCh38] Chr11:5247166 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.316-387C>T | single nucleotide variant | not provided [RCV001422725] | Chr11:5226113 [GRCh38] Chr11:5247343 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+387T>C | single nucleotide variant | not provided [RCV001415138] | Chr11:5226190 [GRCh38] Chr11:5247420 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-405T>C | single nucleotide variant | not provided [RCV001391742] | Chr11:5226131 [GRCh38] Chr11:5247361 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+395T>C | single nucleotide variant | not provided [RCV001397363] | Chr11:5226182 [GRCh38] Chr11:5247412 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+147_315+152del | deletion | not provided [RCV001414710] | Chr11:5226425..5226430 [GRCh38] Chr11:5247655..5247660 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+258G>A | single nucleotide variant | not provided [RCV001415181] | Chr11:5226319 [GRCh38] Chr11:5247549 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-67G>C | single nucleotide variant | not provided [RCV001422280] | Chr11:5225793 [GRCh38] Chr11:5247023 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.144T>A (p.Asp48Glu) | single nucleotide variant | not provided [RCV001812341] | Chr11:5226748 [GRCh38] Chr11:5247978 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-337T>G | single nucleotide variant | not provided [RCV001412834] | Chr11:5226063 [GRCh38] Chr11:5247293 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.224_225insTCCAG (p.Leu76fs) | insertion | not provided [RCV001283987] | Chr11:5226667..5226668 [GRCh38] Chr11:5247897..5247898 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.260C>T (p.Ala87Val) | single nucleotide variant | not provided [RCV001283990]|not specified [RCV005057211] | Chr11:5226632 [GRCh38] Chr11:5247862 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.282del (p.Cys94fs) | deletion | not provided [RCV001283992] | Chr11:5226610 [GRCh38] Chr11:5247840 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.315+58T>C | single nucleotide variant | not provided [RCV001422314] | Chr11:5226519 [GRCh38] Chr11:5247749 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+15T>C | single nucleotide variant | not provided [RCV001413395] | Chr11:5226915 [GRCh38] Chr11:5248145 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+48G>A | single nucleotide variant | not provided [RCV001433464] | Chr11:5226882 [GRCh38] Chr11:5248112 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+55T>A | single nucleotide variant | not provided [RCV001422654] | Chr11:5226522 [GRCh38] Chr11:5247752 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+184T>C | single nucleotide variant | not provided [RCV001414670] | Chr11:5226393 [GRCh38] Chr11:5247623 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-361G>T | single nucleotide variant | not provided [RCV001392086] | Chr11:5226087 [GRCh38] Chr11:5247317 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+306A>T | single nucleotide variant | not provided [RCV001396849] | Chr11:5226271 [GRCh38] Chr11:5247501 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+139G>C | single nucleotide variant | not provided [RCV001392397] | Chr11:5226438 [GRCh38] Chr11:5247668 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.4(HBB):c.-134A>G | single nucleotide variant | not specified [RCV001358734] | Chr11:5227155 [GRCh38] Chr11:5248385 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.93-17T>C | single nucleotide variant | not provided [RCV001392048] | Chr11:5226816 [GRCh38] Chr11:5248046 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-389C>T | single nucleotide variant | not provided [RCV001415110] | Chr11:5226115 [GRCh38] Chr11:5247345 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+73A>G | single nucleotide variant | not provided [RCV001813135] | Chr11:5226504 [GRCh38] Chr11:5247734 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*74A>G | single nucleotide variant | not provided [RCV001812924]|not specified [RCV001293509] | Chr11:5225524 [GRCh38] Chr11:5246754 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NC_000011.10:g.5227153C>A | single nucleotide variant | not provided [RCV001812269]|not specified [RCV001269247] | Chr11:5227153 [GRCh38] Chr11:5248383 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.255C>A (p.Thr85=) | single nucleotide variant | not provided [RCV001283989] | Chr11:5226637 [GRCh38] Chr11:5247867 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NC_000011.10:g.5224303_5227790del | deletion | beta Thalassemia [RCV001353256] | Chr11:5224303..5227790 [GRCh38] Chr11:5245533..5249020 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.237G>C (p.Leu79=) | single nucleotide variant | beta Thalassemia [RCV001279267] | Chr11:5226655 [GRCh38] Chr11:5247885 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.233_234del (p.His78fs) | deletion | Beta-thalassemia HBB/LCRB [RCV002465869]|beta Thalassemia [RCV001375567] | Chr11:5226658..5226659 [GRCh38] Chr11:5247888..5247889 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.*47C>G | single nucleotide variant | not specified [RCV001290588] | Chr11:5225551 [GRCh38] Chr11:5246781 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.315+73A>T | single nucleotide variant | not provided [RCV001395577] | Chr11:5226504 [GRCh38] Chr11:5247734 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.126dup (p.Phe43fs) | duplication | Hemoglobinopathy [RCV001420858] | Chr11:5226765..5226766 [GRCh38] Chr11:5247995..5247996 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.316-90A>G | single nucleotide variant | not provided [RCV001813018]|not specified [RCV004699270] | Chr11:5225816 [GRCh38] Chr11:5247046 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.282T>G (p.Cys94Trp) | single nucleotide variant | not specified [RCV001290615] | Chr11:5226610 [GRCh38] Chr11:5247840 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.315+212T>G | single nucleotide variant | not provided [RCV001422101] | Chr11:5226365 [GRCh38] Chr11:5247595 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-145G>C | single nucleotide variant | not provided [RCV001396470] | Chr11:5225871 [GRCh38] Chr11:5247101 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-224A>G | single nucleotide variant | not provided [RCV001493814] | Chr11:5225950 [GRCh38] Chr11:5247180 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+12G>A | single nucleotide variant | not provided [RCV001494560]|not specified [RCV005237854] | Chr11:5226918 [GRCh38] Chr11:5248148 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+213T>A | single nucleotide variant | not provided [RCV001395668] | Chr11:5226364 [GRCh38] Chr11:5247594 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+127T>C | single nucleotide variant | not provided [RCV001412941] | Chr11:5226450 [GRCh38] Chr11:5247680 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-249A>G | single nucleotide variant | not provided [RCV001494948] | Chr11:5225975 [GRCh38] Chr11:5247205 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.173A>G (p.Asn58Ser) | single nucleotide variant | not provided [RCV001357780] | Chr11:5226719 [GRCh38] Chr11:5247949 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.315+283G>C | single nucleotide variant | not provided [RCV001395204] | Chr11:5226294 [GRCh38] Chr11:5247524 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-223T>A | single nucleotide variant | not provided [RCV001478820] | Chr11:5225949 [GRCh38] Chr11:5247179 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-27C>T | single nucleotide variant | not provided [RCV001454475] | Chr11:5226826 [GRCh38] Chr11:5248056 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-400T>C | single nucleotide variant | not provided [RCV001473097] | Chr11:5226126 [GRCh38] Chr11:5247356 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-378C>T | single nucleotide variant | not provided [RCV001495554] | Chr11:5226104 [GRCh38] Chr11:5247334 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+292A>C | single nucleotide variant | not provided [RCV001402055] | Chr11:5226285 [GRCh38] Chr11:5247515 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-239G>C | single nucleotide variant | not provided [RCV001478291] | Chr11:5225965 [GRCh38] Chr11:5247195 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+149G>A | single nucleotide variant | not provided [RCV001424578] | Chr11:5226428 [GRCh38] Chr11:5247658 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-339C>T | single nucleotide variant | not provided [RCV001481647] | Chr11:5226065 [GRCh38] Chr11:5247295 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+16G>T | single nucleotide variant | not provided [RCV001462016] | Chr11:5226561 [GRCh38] Chr11:5247791 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.252C>A (p.Gly84=) | single nucleotide variant | not provided [RCV001416885] | Chr11:5226640 [GRCh38] Chr11:5247870 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+143G>T | single nucleotide variant | not provided [RCV001399146] | Chr11:5226434 [GRCh38] Chr11:5247664 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+153_315+157del | deletion | not provided [RCV001501964] | Chr11:5226420..5226424 [GRCh38] Chr11:5247650..5247654 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-62T>C | single nucleotide variant | not provided [RCV001496049] | Chr11:5225788 [GRCh38] Chr11:5247018 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+140A>G | single nucleotide variant | not provided [RCV001441397] | Chr11:5226437 [GRCh38] Chr11:5247667 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+28T>C | single nucleotide variant | not provided [RCV001417230] | Chr11:5226902 [GRCh38] Chr11:5248132 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+129G>A | single nucleotide variant | not provided [RCV001484358] | Chr11:5226448 [GRCh38] Chr11:5247678 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+327G>A | single nucleotide variant | not provided [RCV001484376] | Chr11:5226250 [GRCh38] Chr11:5247480 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+41T>A | single nucleotide variant | not provided [RCV001492504] | Chr11:5226536 [GRCh38] Chr11:5247766 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-204G>C | single nucleotide variant | not provided [RCV001476091] | Chr11:5225930 [GRCh38] Chr11:5247160 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-80T>C | single nucleotide variant | not provided [RCV001468619] | Chr11:5225806 [GRCh38] Chr11:5247036 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-153T>C | single nucleotide variant | not provided [RCV001451396] | Chr11:5225879 [GRCh38] Chr11:5247109 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.10:g.5227246C>T | single nucleotide variant | not provided [RCV001488150] | Chr11:5227246 [GRCh38] Chr11:5248476 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+213T>C | single nucleotide variant | not provided [RCV001488151] | Chr11:5226364 [GRCh38] Chr11:5247594 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+195T>C | single nucleotide variant | not provided [RCV001451672] | Chr11:5226382 [GRCh38] Chr11:5247612 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+100G>C | single nucleotide variant | not provided [RCV001458969] | Chr11:5226477 [GRCh38] Chr11:5247707 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+300A>G | single nucleotide variant | not provided [RCV001436487] | Chr11:5226277 [GRCh38] Chr11:5247507 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+18A>G | single nucleotide variant | not provided [RCV001479786] | Chr11:5226912 [GRCh38] Chr11:5248142 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-332C>T | single nucleotide variant | not provided [RCV001469091] | Chr11:5226058 [GRCh38] Chr11:5247288 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+62A>T | single nucleotide variant | not provided [RCV001492843] | Chr11:5226868 [GRCh38] Chr11:5248098 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.303T>G (p.Pro101=) | single nucleotide variant | not provided [RCV001477147] | Chr11:5226589 [GRCh38] Chr11:5247819 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.255C>T (p.Thr85=) | single nucleotide variant | not provided [RCV001500661] | Chr11:5226637 [GRCh38] Chr11:5247867 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.*34G>A | single nucleotide variant | not provided [RCV001459637] | Chr11:5225564 [GRCh38] Chr11:5246794 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+69G>A | single nucleotide variant | not provided [RCV001442286] | Chr11:5226508 [GRCh38] Chr11:5247738 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+50G>A | single nucleotide variant | not provided [RCV001462334] | Chr11:5226880 [GRCh38] Chr11:5248110 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-115dup | duplication | not provided [RCV001471766] | Chr11:5225840..5225841 [GRCh38] Chr11:5247070..5247071 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-359A>G | single nucleotide variant | not provided [RCV001503481] | Chr11:5226085 [GRCh38] Chr11:5247315 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+287C>T | single nucleotide variant | not provided [RCV001492945] | Chr11:5226290 [GRCh38] Chr11:5247520 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-363T>C | single nucleotide variant | not provided [RCV001504265] | Chr11:5226089 [GRCh38] Chr11:5247319 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-387C>A | single nucleotide variant | not provided [RCV001469866] | Chr11:5226113 [GRCh38] Chr11:5247343 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+317A>G | single nucleotide variant | not provided [RCV001434218] | Chr11:5226260 [GRCh38] Chr11:5247490 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-418G>A | single nucleotide variant | not provided [RCV001428991] | Chr11:5226144 [GRCh38] Chr11:5247374 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-258C>A | single nucleotide variant | not provided [RCV001472092] | Chr11:5225984 [GRCh38] Chr11:5247214 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-415T>G | single nucleotide variant | not provided [RCV001501233] | Chr11:5226141 [GRCh38] Chr11:5247371 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+391C>A | single nucleotide variant | not provided [RCV001440090] | Chr11:5226186 [GRCh38] Chr11:5247416 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+37C>A | single nucleotide variant | not provided [RCV001456151] | Chr11:5226893 [GRCh38] Chr11:5248123 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+22C>G | single nucleotide variant | not provided [RCV001456152] | Chr11:5226908 [GRCh38] Chr11:5248138 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+77G>T | single nucleotide variant | not provided [RCV001483524] | Chr11:5226500 [GRCh38] Chr11:5247730 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+35A>G | single nucleotide variant | not provided [RCV001506056] | Chr11:5226895 [GRCh38] Chr11:5248125 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+17C>T | single nucleotide variant | not provided [RCV001506057] | Chr11:5226913 [GRCh38] Chr11:5248143 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.303T>C (p.Pro101=) | single nucleotide variant | not provided [RCV001493225] | Chr11:5226589 [GRCh38] Chr11:5247819 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-400T>A | single nucleotide variant | not provided [RCV001415974] | Chr11:5226126 [GRCh38] Chr11:5247356 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+339T>A | single nucleotide variant | not provided [RCV001474763] | Chr11:5226238 [GRCh38] Chr11:5247468 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-358T>A | single nucleotide variant | not provided [RCV001481521] | Chr11:5226084 [GRCh38] Chr11:5247314 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+335C>T | single nucleotide variant | not provided [RCV001442921] | Chr11:5226242 [GRCh38] Chr11:5247472 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+45A>G | single nucleotide variant | not provided [RCV001452755] | Chr11:5226885 [GRCh38] Chr11:5248115 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+261T>C | single nucleotide variant | not provided [RCV001474807] | Chr11:5226316 [GRCh38] Chr11:5247546 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-261A>T | single nucleotide variant | not provided [RCV001416332] | Chr11:5225987 [GRCh38] Chr11:5247217 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+53T>C | single nucleotide variant | not provided [RCV001460154] | Chr11:5226877 [GRCh38] Chr11:5248107 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-198G>T | single nucleotide variant | not provided [RCV001486472] | Chr11:5225924 [GRCh38] Chr11:5247154 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.225C>G (p.Gly75=) | single nucleotide variant | not provided [RCV001438381] | Chr11:5226667 [GRCh38] Chr11:5247897 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-99T>G | single nucleotide variant | not provided [RCV001443269]|not specified [RCV001581132] | Chr11:5225825 [GRCh38] Chr11:5247055 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.315+396A>G | single nucleotide variant | not provided [RCV001448478] | Chr11:5226181 [GRCh38] Chr11:5247411 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+317A>C | single nucleotide variant | not provided [RCV001437086] | Chr11:5226260 [GRCh38] Chr11:5247490 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+394T>G | single nucleotide variant | not provided [RCV001438424] | Chr11:5226183 [GRCh38] Chr11:5247413 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.384G>C (p.Gln128His) | single nucleotide variant | Delta-beta-thalassemia [RCV001420459]|not specified [RCV005408897] | Chr11:5225658 [GRCh38] Chr11:5246888 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-370G>C | single nucleotide variant | not provided [RCV001409661] | Chr11:5226096 [GRCh38] Chr11:5247326 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+349T>C | single nucleotide variant | not provided [RCV001407027] | Chr11:5226228 [GRCh38] Chr11:5247458 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.96G>T (p.Leu32=) | single nucleotide variant | not provided [RCV001409762] | Chr11:5226796 [GRCh38] Chr11:5248026 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-219_316-218del | deletion | not provided [RCV001400867] | Chr11:5225944..5225945 [GRCh38] Chr11:5247174..5247175 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+331A>C | single nucleotide variant | not provided [RCV001409718] | Chr11:5226246 [GRCh38] Chr11:5247476 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+235T>G | single nucleotide variant | not provided [RCV001449003] | Chr11:5226342 [GRCh38] Chr11:5247572 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.196A>T (p.Lys66Ter) | single nucleotide variant | not provided [RCV001388315] | Chr11:5226696 [GRCh38] Chr11:5247926 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.316-386A>G | single nucleotide variant | not provided [RCV001446445] | Chr11:5226112 [GRCh38] Chr11:5247342 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.60C>T (p.Asn20=) | single nucleotide variant | beta Thalassemia [RCV001836395]|not provided [RCV001400263]|not specified [RCV005237782] | Chr11:5226962 [GRCh38] Chr11:5248192 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.316-336del | deletion | not provided [RCV001428329] | Chr11:5226062 [GRCh38] Chr11:5247292 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.315+234T>A | single nucleotide variant | not provided [RCV001407564] | Chr11:5226343 [GRCh38] Chr11:5247573 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+100G>A | single nucleotide variant | not provided [RCV001437484] | Chr11:5226477 [GRCh38] Chr11:5247707 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-10C>A | single nucleotide variant | not provided [RCV001446689] | Chr11:5225736 [GRCh38] Chr11:5246966 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-315del | deletion | not provided [RCV001410184] | Chr11:5226041 [GRCh38] Chr11:5247271 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+48G>T | single nucleotide variant | not provided [RCV001418247] | Chr11:5226529 [GRCh38] Chr11:5247759 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-397T>A | single nucleotide variant | not provided [RCV001447152] | Chr11:5226123 [GRCh38] Chr11:5247353 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+285T>C | single nucleotide variant | not provided [RCV001436125] | Chr11:5226292 [GRCh38] Chr11:5247522 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+277C>A | single nucleotide variant | not provided [RCV001401216] | Chr11:5226300 [GRCh38] Chr11:5247530 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.10:g.5226755_5227283del | deletion | not provided [RCV001390477] | Chr11:5226750..5227278 [GRCh38] Chr11:5247980..5248508 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.316-362T>A | single nucleotide variant | not provided [RCV001444685] | Chr11:5226088 [GRCh38] Chr11:5247318 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.156T>C (p.Pro52=) | single nucleotide variant | not provided [RCV001437795] | Chr11:5226736 [GRCh38] Chr11:5247966 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-159A>C | single nucleotide variant | not provided [RCV001405801] | Chr11:5225885 [GRCh38] Chr11:5247115 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-31C>T | single nucleotide variant | not provided [RCV001408368] | Chr11:5225757 [GRCh38] Chr11:5246987 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+81C>A | single nucleotide variant | not provided [RCV001437808] | Chr11:5226496 [GRCh38] Chr11:5247726 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+116T>C | single nucleotide variant | not provided [RCV001408105] | Chr11:5226461 [GRCh38] Chr11:5247691 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.279C>T (p.His93=) | single nucleotide variant | not provided [RCV001447336] | Chr11:5226613 [GRCh38] Chr11:5247843 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-244T>A | single nucleotide variant | not provided [RCV001410713] | Chr11:5225970 [GRCh38] Chr11:5247200 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+40T>A | single nucleotide variant | not provided [RCV001431584] | Chr11:5226890 [GRCh38] Chr11:5248120 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+211T>C | single nucleotide variant | not provided [RCV001408334] | Chr11:5226366 [GRCh38] Chr11:5247596 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-405T>A | single nucleotide variant | not provided [RCV001401247] | Chr11:5226131 [GRCh38] Chr11:5247361 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+246C>A | single nucleotide variant | not provided [RCV001401283] | Chr11:5226331 [GRCh38] Chr11:5247561 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-356T>C | single nucleotide variant | not provided [RCV001408440] | Chr11:5226082 [GRCh38] Chr11:5247312 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-42del | deletion | not provided [RCV001410999]|not specified [RCV003120602] | Chr11:5225768 [GRCh38] Chr11:5246998 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.315+143G>C | single nucleotide variant | not provided [RCV001442778] | Chr11:5226434 [GRCh38] Chr11:5247664 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-104A>T | single nucleotide variant | not provided [RCV001408548] | Chr11:5225830 [GRCh38] Chr11:5247060 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+90G>A | single nucleotide variant | not provided [RCV001448069] | Chr11:5226487 [GRCh38] Chr11:5247717 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+41A>G | single nucleotide variant | not provided [RCV001448089] | Chr11:5226889 [GRCh38] Chr11:5248119 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+26T>C | single nucleotide variant | not provided [RCV001448090] | Chr11:5226904 [GRCh38] Chr11:5248134 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.9:g.(?_5247393)_5248785del | deletion | not provided [RCV001387886] | pathogenic | |
NC_000011.9:g.(?_5247800)_5255213del | deletion | not provided [RCV001387887] | pathogenic | |
NC_000011.9:g.(?_5247493)_5248852del | deletion | not provided [RCV001387888] | pathogenic | |
NC_000011.9:g.(?_5239576)_5247294del | deletion | not provided [RCV001387889] | pathogenic | |
NC_000011.9:g.(?_5246696)_5247105del | deletion | not provided [RCV001387891] | pathogenic | |
NM_000518.5(HBB):c.315+183_315+187del | deletion | not provided [RCV001448493] | Chr11:5226390..5226394 [GRCh38] Chr11:5247620..5247624 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+316_315+317del | microsatellite | not provided [RCV001428574] | Chr11:5226260..5226261 [GRCh38] Chr11:5247490..5247491 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+77G>A | single nucleotide variant | not provided [RCV001438414] | Chr11:5226500 [GRCh38] Chr11:5247730 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.150C>T (p.Ser50=) | single nucleotide variant | not provided [RCV001448611] | Chr11:5226742 [GRCh38] Chr11:5247972 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-148G>C | single nucleotide variant | not provided [RCV001457425]|not specified [RCV005237831] | Chr11:5225874 [GRCh38] Chr11:5247104 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.330G>A (p.Val110=) | single nucleotide variant | not provided [RCV001506086] | Chr11:5225712 [GRCh38] Chr11:5246942 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.159T>C (p.Asp53=) | single nucleotide variant | not provided [RCV001481679] | Chr11:5226733 [GRCh38] Chr11:5247963 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.150C>A (p.Ser50=) | single nucleotide variant | not provided [RCV001495468] | Chr11:5226742 [GRCh38] Chr11:5247972 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+364A>G | single nucleotide variant | not provided [RCV001465151] | Chr11:5226213 [GRCh38] Chr11:5247443 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.363A>G (p.Lys121=) | single nucleotide variant | not provided [RCV001451021] | Chr11:5225679 [GRCh38] Chr11:5246909 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-11T>C | single nucleotide variant | not provided [RCV001451426] | Chr11:5225737 [GRCh38] Chr11:5246967 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-304T>A | single nucleotide variant | not provided [RCV001458819] | Chr11:5226030 [GRCh38] Chr11:5247260 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+39A>G | single nucleotide variant | not provided [RCV001465564] | Chr11:5226891 [GRCh38] Chr11:5248121 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-46T>C | single nucleotide variant | not provided [RCV001458473] | Chr11:5226845 [GRCh38] Chr11:5248075 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.381G>A (p.Val127=) | single nucleotide variant | not provided [RCV001479710] | Chr11:5225661 [GRCh38] Chr11:5246891 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.261C>T (p.Ala87=) | single nucleotide variant | not provided [RCV001462725] | Chr11:5226631 [GRCh38] Chr11:5247861 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+410C>A | single nucleotide variant | not provided [RCV001499889] | Chr11:5226167 [GRCh38] Chr11:5247397 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+316C>T | single nucleotide variant | not provided [RCV001477191] | Chr11:5226261 [GRCh38] Chr11:5247491 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+9C>T | single nucleotide variant | not provided [RCV001466355] | Chr11:5226921 [GRCh38] Chr11:5248151 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-40C>A | single nucleotide variant | not provided [RCV001460224] | Chr11:5226839 [GRCh38] Chr11:5248069 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+312T>C | single nucleotide variant | not provided [RCV001463488] | Chr11:5226265 [GRCh38] Chr11:5247495 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+205dup | duplication | not provided [RCV001517810] | Chr11:5226363..5226364 [GRCh38] Chr11:5247593..5247594 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.273G>A (p.Glu91=) | single nucleotide variant | not provided [RCV001460136] | Chr11:5226619 [GRCh38] Chr11:5247849 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+71G>A | single nucleotide variant | not provided [RCV001456118] | Chr11:5226506 [GRCh38] Chr11:5247736 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+202T>C | single nucleotide variant | not provided [RCV001456530] | Chr11:5226375 [GRCh38] Chr11:5247605 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+183C>A | single nucleotide variant | not provided [RCV001460314] | Chr11:5226394 [GRCh38] Chr11:5247624 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+115A>T | single nucleotide variant | not provided [RCV001456238] | Chr11:5226462 [GRCh38] Chr11:5247692 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+368T>G | single nucleotide variant | not provided [RCV001484805] | Chr11:5226209 [GRCh38] Chr11:5247439 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-290C>A | single nucleotide variant | not provided [RCV001489053] | Chr11:5226016 [GRCh38] Chr11:5247246 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+160T>C | single nucleotide variant | not provided [RCV001453988] | Chr11:5226417 [GRCh38] Chr11:5247647 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+85G>A | single nucleotide variant | not provided [RCV001418978] | Chr11:5226492 [GRCh38] Chr11:5247722 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.9:g.(?_5246486)_5247105del | deletion | not provided [RCV001387890] | pathogenic | |
NM_000518.5(HBB):c.93-46T>A | single nucleotide variant | not provided [RCV001495580] | Chr11:5226845 [GRCh38] Chr11:5248075 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-411G>C | single nucleotide variant | not provided [RCV001484348] | Chr11:5226137 [GRCh38] Chr11:5247367 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.141G>C (p.Gly47=) | single nucleotide variant | not provided [RCV001486948] | Chr11:5226751 [GRCh38] Chr11:5247981 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-407A>C | single nucleotide variant | not provided [RCV001490191] | Chr11:5226133 [GRCh38] Chr11:5247363 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-77G>C | single nucleotide variant | not provided [RCV001499974] | Chr11:5225803 [GRCh38] Chr11:5247033 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-290_316-289insGGGCAATAATTT | insertion | not provided [RCV001464178] | Chr11:5226015..5226016 [GRCh38] Chr11:5247245..5247246 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+290T>G | single nucleotide variant | not provided [RCV001506034] | Chr11:5226287 [GRCh38] Chr11:5247517 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-335C>T | single nucleotide variant | not provided [RCV001458361] | Chr11:5226061 [GRCh38] Chr11:5247291 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+28C>G | single nucleotide variant | not provided [RCV001436159] | Chr11:5226549 [GRCh38] Chr11:5247779 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.9_10delinsCT (p.His3_Leu4=) | indel | not provided [RCV001498535] | Chr11:5227012..5227013 [GRCh38] Chr11:5248242..5248243 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-147A>T | single nucleotide variant | not provided [RCV001496065] | Chr11:5225873 [GRCh38] Chr11:5247103 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+246C>G | single nucleotide variant | not provided [RCV001453204] | Chr11:5226331 [GRCh38] Chr11:5247561 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+125T>A | single nucleotide variant | not provided [RCV001453213] | Chr11:5226452 [GRCh38] Chr11:5247682 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+74T>C | single nucleotide variant | not provided [RCV001464277] | Chr11:5226503 [GRCh38] Chr11:5247733 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-379C>A | single nucleotide variant | not provided [RCV001467340] | Chr11:5226105 [GRCh38] Chr11:5247335 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+300dup | duplication | not provided [RCV001506205] | Chr11:5226268..5226269 [GRCh38] Chr11:5247498..5247499 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-278C>T | single nucleotide variant | not provided [RCV001497261] | Chr11:5226004 [GRCh38] Chr11:5247234 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+7A>G | single nucleotide variant | not provided [RCV001503337] | Chr11:5226923 [GRCh38] Chr11:5248153 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+143G>A | single nucleotide variant | not provided [RCV001471176] | Chr11:5226434 [GRCh38] Chr11:5247664 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-229A>G | single nucleotide variant | not provided [RCV001440183] | Chr11:5225955 [GRCh38] Chr11:5247185 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+237T>A | single nucleotide variant | not provided [RCV001500399] | Chr11:5226340 [GRCh38] Chr11:5247570 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+165G>A | single nucleotide variant | not provided [RCV001502553] | Chr11:5226412 [GRCh38] Chr11:5247642 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-325T>C | single nucleotide variant | not provided [RCV001471340] | Chr11:5226051 [GRCh38] Chr11:5247281 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.426G>T (p.Leu142=) | single nucleotide variant | not provided [RCV001451801] | Chr11:5225616 [GRCh38] Chr11:5246846 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+76A>C | single nucleotide variant | not provided [RCV001460142] | Chr11:5226501 [GRCh38] Chr11:5247731 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-36CT[2] | microsatellite | not provided [RCV001497757] | Chr11:5226828..5226831 [GRCh38] Chr11:5248058..5248061 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+174A>G | single nucleotide variant | not provided [RCV001476198] | Chr11:5226403 [GRCh38] Chr11:5247633 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-417G>A | single nucleotide variant | not provided [RCV001466004] | Chr11:5226143 [GRCh38] Chr11:5247373 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-347A>T | single nucleotide variant | not provided [RCV001499208] | Chr11:5226073 [GRCh38] Chr11:5247303 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-66A>G | single nucleotide variant | not provided [RCV001476302] | Chr11:5225792 [GRCh38] Chr11:5247022 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+57G>T | single nucleotide variant | not provided [RCV001452192] | Chr11:5226873 [GRCh38] Chr11:5248103 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-282C>G | single nucleotide variant | not provided [RCV001460631] | Chr11:5226008 [GRCh38] Chr11:5247238 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+48G>C | single nucleotide variant | not provided [RCV001454025] | Chr11:5226882 [GRCh38] Chr11:5248112 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+61C>G | single nucleotide variant | not provided [RCV001505290] | Chr11:5226869 [GRCh38] Chr11:5248099 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+169A>G | single nucleotide variant | not provided [RCV001425352] | Chr11:5226408 [GRCh38] Chr11:5247638 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-7C>A | single nucleotide variant | not provided [RCV001467882] | Chr11:5226806 [GRCh38] Chr11:5248036 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+269_315+270del | deletion | not provided [RCV001401858] | Chr11:5226307..5226308 [GRCh38] Chr11:5247537..5247538 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-383T>C | single nucleotide variant | not provided [RCV001430231] | Chr11:5226109 [GRCh38] Chr11:5247339 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+254T>C | single nucleotide variant | not provided [RCV001443656] | Chr11:5226323 [GRCh38] Chr11:5247553 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+354G>A | single nucleotide variant | not provided [RCV001432734] | Chr11:5226223 [GRCh38] Chr11:5247453 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+211T>G | single nucleotide variant | not provided [RCV001485305] | Chr11:5226366 [GRCh38] Chr11:5247596 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+213del | deletion | not provided [RCV001418516] | Chr11:5226364 [GRCh38] Chr11:5247594 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-265A>G | single nucleotide variant | not provided [RCV001415992] | Chr11:5225991 [GRCh38] Chr11:5247221 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+310T>C | single nucleotide variant | not provided [RCV001418042] | Chr11:5226267 [GRCh38] Chr11:5247497 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+414A>C | single nucleotide variant | not provided [RCV001456236] | Chr11:5226163 [GRCh38] Chr11:5247393 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-15A>G | single nucleotide variant | not provided [RCV001424099] | Chr11:5225741 [GRCh38] Chr11:5246971 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+306_315+308del | deletion | not provided [RCV001418726] | Chr11:5226269..5226271 [GRCh38] Chr11:5247499..5247501 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.435G>A (p.Lys145=) | single nucleotide variant | not provided [RCV001428141] | Chr11:5225607 [GRCh38] Chr11:5246837 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-100T>A | single nucleotide variant | not provided [RCV001489014] | Chr11:5225826 [GRCh38] Chr11:5247056 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.315+265A>G | single nucleotide variant | not provided [RCV001437069] | Chr11:5226312 [GRCh38] Chr11:5247542 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-32C>T | single nucleotide variant | not provided [RCV001494618] | Chr11:5226831 [GRCh38] Chr11:5248061 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-68G>T | single nucleotide variant | not provided [RCV001501182] | Chr11:5225794 [GRCh38] Chr11:5247024 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-112A>G | single nucleotide variant | not provided [RCV001485488]|not specified [RCV003388020] | Chr11:5225838 [GRCh38] Chr11:5247068 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+325T>G | single nucleotide variant | not provided [RCV001450395] | Chr11:5226252 [GRCh38] Chr11:5247482 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+63T>C | single nucleotide variant | not provided [RCV001456564] | Chr11:5226514 [GRCh38] Chr11:5247744 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+158A>T | single nucleotide variant | not provided [RCV001456570] | Chr11:5226419 [GRCh38] Chr11:5247649 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+232T>C | single nucleotide variant | not provided [RCV001424545] | Chr11:5226345 [GRCh38] Chr11:5247575 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-129T>C | single nucleotide variant | not provided [RCV001416904] | Chr11:5225855 [GRCh38] Chr11:5247085 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+391_315+395del | deletion | not provided [RCV001424826] | Chr11:5226182..5226186 [GRCh38] Chr11:5247412..5247416 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.4(HBB):c.-265G>A | single nucleotide variant | not provided [RCV001508664] | Chr11:5227286 [GRCh38] Chr11:5248516 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.92+61C>T | single nucleotide variant | not provided [RCV001495460] | Chr11:5226869 [GRCh38] Chr11:5248099 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-34C>T | single nucleotide variant | not provided [RCV001466928] | Chr11:5226833 [GRCh38] Chr11:5248063 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.164T>C (p.Val55Ala) | single nucleotide variant | not specified [RCV002238578] | Chr11:5226728 [GRCh38] Chr11:5247958 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.-8C>G | single nucleotide variant | not provided [RCV002539826]|not specified [RCV001733372] | Chr11:5227029 [GRCh38] Chr11:5248259 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.372C>T (p.Thr124=) | single nucleotide variant | not provided [RCV003698869]|not specified [RCV001733373] | Chr11:5225670 [GRCh38] Chr11:5246900 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-308_316-304del | deletion | not specified [RCV001801149] | Chr11:5226030..5226034 [GRCh38] Chr11:5247260..5247264 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.10C>G (p.Leu4Val) | single nucleotide variant | not provided [RCV001801051] | Chr11:5227012 [GRCh38] Chr11:5248242 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.4(HBB):c.-69G>A | single nucleotide variant | not provided [RCV001801071] | Chr11:5227090 [GRCh38] Chr11:5248320 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-91del | deletion | not provided [RCV001801155] | Chr11:5225817 [GRCh38] Chr11:5247047 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*83G>T | single nucleotide variant | not provided [RCV001801157] | Chr11:5225515 [GRCh38] Chr11:5246745 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.10_16delinsTCTGACT (p.Leu4_Pro6delinsSerAspSer) | indel | HEMOGLOBIN ANTALYA [RCV001789802] | Chr11:5227006..5227012 [GRCh38] Chr11:5248236..5248242 [GRCh37] Chr11:11p15.4 |
other |
NM_000518.5(HBB):c.16C>G (p.Pro6Ala) | single nucleotide variant | not provided [RCV001812585] | Chr11:5227006 [GRCh38] Chr11:5248236 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-3C>T | single nucleotide variant | Dominant beta-thalassemia [RCV002482326]|not provided [RCV001801037] | Chr11:5225729 [GRCh38] Chr11:5246959 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.65A>T (p.Asp22Val) | single nucleotide variant | not provided [RCV001801095] | Chr11:5226957 [GRCh38] Chr11:5248187 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.399A>T (p.Lys133Asn) | single nucleotide variant | not specified [RCV001801084] | Chr11:5225643 [GRCh38] Chr11:5246873 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.-104G>A | single nucleotide variant | HBB-related disorder [RCV004536319]|not provided [RCV001801158]|not specified [RCV004770206] | Chr11:5227125 [GRCh38] Chr11:5248355 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.372C>A (p.Thr124=) | single nucleotide variant | not provided [RCV002541102]|not specified [RCV001779468] | Chr11:5225670 [GRCh38] Chr11:5246900 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.334G>C (p.Val112Leu) | single nucleotide variant | not provided [RCV001811077]|not specified [RCV004782447] | Chr11:5225708 [GRCh38] Chr11:5246938 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.315+10T>G | single nucleotide variant | not provided [RCV001811715] | Chr11:5226567 [GRCh38] Chr11:5247797 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.220G>C (p.Asp74His) | single nucleotide variant | not provided [RCV001811763] | Chr11:5226672 [GRCh38] Chr11:5247902 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-15.4(chr11:230615-5525355)x3 | copy number gain | not provided [RCV001825269] | Chr11:230615..5525355 [GRCh37] Chr11:11p15.5-15.4 |
not provided |
NM_000518.5(HBB):c.380_396del (p.Val127fs) | deletion | beta Thalassemia [RCV004699591]|not provided [RCV001982926] | Chr11:5225646..5225662 [GRCh38] Chr11:5246876..5246892 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.*132C>A | single nucleotide variant | Dominant beta-thalassemia [RCV005005301]|not provided [RCV003478881]|not specified [RCV001844510] | Chr11:5225466 [GRCh38] Chr11:5246696 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.4(chr11:5187270-5268465)x1 | copy number loss | not provided [RCV001829230] | Chr11:5187270..5268465 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.72T>A (p.Val24=) | single nucleotide variant | beta Thalassemia [RCV002053878] | Chr11:5226950 [GRCh38] Chr11:5248180 [GRCh37] Chr11:11p15.4 |
not provided |
GRCh37/hg19 11p15.4(chr11:5221232-5373562) | copy number gain | not specified [RCV002052911] | Chr11:5221232..5373562 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NC_000011.9:g.(?_5145468)_(5247440_?)del | deletion | not provided [RCV001962926] | Chr11:5145468..5247440 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.316-141G>A | single nucleotide variant | not provided [RCV002210281]|not specified [RCV003317576] | Chr11:5225867 [GRCh38] Chr11:5247097 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.316-53C>T | single nucleotide variant | not provided [RCV002104494] | Chr11:5225779 [GRCh38] Chr11:5247009 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-95C>G | single nucleotide variant | not provided [RCV002210630] | Chr11:5225821 [GRCh38] Chr11:5247051 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+8T>C | single nucleotide variant | not provided [RCV002169972] | Chr11:5226922 [GRCh38] Chr11:5248152 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.316-394G>A | single nucleotide variant | not provided [RCV002189022] | Chr11:5226120 [GRCh38] Chr11:5247350 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+24T>G | single nucleotide variant | not provided [RCV002166533] | Chr11:5226553 [GRCh38] Chr11:5247783 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+402_315+405del | deletion | not provided [RCV002073895] | Chr11:5226172..5226175 [GRCh38] Chr11:5247402..5247405 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+12_315+13dup | duplication | not provided [RCV002108805] | Chr11:5226563..5226564 [GRCh38] Chr11:5247793..5247794 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-132T>C | single nucleotide variant | not provided [RCV002186983] | Chr11:5225858 [GRCh38] Chr11:5247088 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-281T>G | single nucleotide variant | not provided [RCV002205166] | Chr11:5226007 [GRCh38] Chr11:5247237 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+109C>A | single nucleotide variant | not provided [RCV002145852] | Chr11:5226468 [GRCh38] Chr11:5247698 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-162T>C | single nucleotide variant | not provided [RCV002165959]|not specified [RCV005419373] | Chr11:5225888 [GRCh38] Chr11:5247118 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-212A>C | single nucleotide variant | not provided [RCV002073435] | Chr11:5225938 [GRCh38] Chr11:5247168 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+313_315+314insAAAAACTTAACTTAAAAA | microsatellite | not provided [RCV002075342] | Chr11:5226263..5226264 [GRCh38] Chr11:5247493..5247494 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+114G>A | single nucleotide variant | not provided [RCV002169020] | Chr11:5226463 [GRCh38] Chr11:5247693 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-30C>G | single nucleotide variant | not provided [RCV002127758] | Chr11:5226829 [GRCh38] Chr11:5248059 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+54T>C | single nucleotide variant | not provided [RCV002071050] | Chr11:5226523 [GRCh38] Chr11:5247753 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+14A>C | single nucleotide variant | not provided [RCV002146658] | Chr11:5226563 [GRCh38] Chr11:5247793 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-260T>C | single nucleotide variant | not provided [RCV002127850]|not specified [RCV004526187] | Chr11:5225986 [GRCh38] Chr11:5247216 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-28G>C | single nucleotide variant | not provided [RCV002127757] | Chr11:5226827 [GRCh38] Chr11:5248057 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-154G>A | single nucleotide variant | not provided [RCV002187558] | Chr11:5225880 [GRCh38] Chr11:5247110 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.306G>A (p.Glu102=) | single nucleotide variant | not provided [RCV002092468] | Chr11:5226586 [GRCh38] Chr11:5247816 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-29T>C | single nucleotide variant | not provided [RCV002110167] | Chr11:5225755 [GRCh38] Chr11:5246985 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+344A>G | single nucleotide variant | not provided [RCV002108827] | Chr11:5226233 [GRCh38] Chr11:5247463 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-171_316-156dup | duplication | not provided [RCV002209461]|not specified [RCV004770398] | Chr11:5225881..5225882 [GRCh38] Chr11:5247111..5247112 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+40T>C | single nucleotide variant | not provided [RCV002186042] | Chr11:5226890 [GRCh38] Chr11:5248120 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+16G>A | single nucleotide variant | not provided [RCV002084663] | Chr11:5226561 [GRCh38] Chr11:5247791 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-57A>C | single nucleotide variant | not provided [RCV002209684] | Chr11:5225783 [GRCh38] Chr11:5247013 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+310T>A | single nucleotide variant | not provided [RCV002074846] | Chr11:5226267 [GRCh38] Chr11:5247497 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.195C>G (p.Gly65=) | single nucleotide variant | not provided [RCV002086163] | Chr11:5226697 [GRCh38] Chr11:5247927 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-273A>T | single nucleotide variant | not provided [RCV002090908] | Chr11:5225999 [GRCh38] Chr11:5247229 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+200C>T | single nucleotide variant | not provided [RCV002188433] | Chr11:5226377 [GRCh38] Chr11:5247607 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+22T>G | single nucleotide variant | not provided [RCV002128847] | Chr11:5226555 [GRCh38] Chr11:5247785 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-19T>G | single nucleotide variant | not provided [RCV002127755] | Chr11:5226818 [GRCh38] Chr11:5248048 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+48G>C | single nucleotide variant | not provided [RCV002071362] | Chr11:5226529 [GRCh38] Chr11:5247759 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-5C>T | single nucleotide variant | not provided [RCV002146374] | Chr11:5226804 [GRCh38] Chr11:5248034 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+390T>C | single nucleotide variant | not provided [RCV002207661] | Chr11:5226187 [GRCh38] Chr11:5247417 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-252A>G | single nucleotide variant | not provided [RCV002185632] | Chr11:5225978 [GRCh38] Chr11:5247208 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.300T>C (p.Asp100=) | single nucleotide variant | not provided [RCV002192585] | Chr11:5226592 [GRCh38] Chr11:5247822 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.18T>C (p.Pro6=) | single nucleotide variant | not provided [RCV002091583] | Chr11:5227004 [GRCh38] Chr11:5248234 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+264C>A | single nucleotide variant | not provided [RCV002186008] | Chr11:5226313 [GRCh38] Chr11:5247543 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-77G>A | single nucleotide variant | not provided [RCV002080073] | Chr11:5225803 [GRCh38] Chr11:5247033 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+36T>A | single nucleotide variant | not provided [RCV002078410] | Chr11:5226541 [GRCh38] Chr11:5247771 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+378C>T | single nucleotide variant | not provided [RCV002212050] | Chr11:5226199 [GRCh38] Chr11:5247429 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+379C>T | single nucleotide variant | not provided [RCV002212213] | Chr11:5226198 [GRCh38] Chr11:5247428 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-298A>T | single nucleotide variant | not provided [RCV002152543] | Chr11:5226024 [GRCh38] Chr11:5247254 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+187T>C | single nucleotide variant | not provided [RCV002216203] | Chr11:5226390 [GRCh38] Chr11:5247620 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.312C>T (p.Phe104=) | single nucleotide variant | not provided [RCV002112455] | Chr11:5226580 [GRCh38] Chr11:5247810 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-366A>G | single nucleotide variant | not provided [RCV002195145] | Chr11:5226092 [GRCh38] Chr11:5247322 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+312T>A | single nucleotide variant | not provided [RCV002093292] | Chr11:5226265 [GRCh38] Chr11:5247495 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-111T>C | single nucleotide variant | not provided [RCV002076234] | Chr11:5225837 [GRCh38] Chr11:5247067 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+233A>G | single nucleotide variant | not provided [RCV002169297] | Chr11:5226344 [GRCh38] Chr11:5247574 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+195T>A | single nucleotide variant | not provided [RCV002131318] | Chr11:5226382 [GRCh38] Chr11:5247612 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+24G>C | single nucleotide variant | not provided [RCV002149899] | Chr11:5226906 [GRCh38] Chr11:5248136 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+110G>A | single nucleotide variant | not provided [RCV002171321] | Chr11:5226467 [GRCh38] Chr11:5247697 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-56G>T | single nucleotide variant | not provided [RCV002133022] | Chr11:5225782 [GRCh38] Chr11:5247012 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+198T>C | single nucleotide variant | not provided [RCV002093849] | Chr11:5226379 [GRCh38] Chr11:5247609 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-193A>G | single nucleotide variant | not provided [RCV002216273]|not specified [RCV005238220] | Chr11:5225919 [GRCh38] Chr11:5247149 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-89T>C | single nucleotide variant | not provided [RCV002193313] | Chr11:5225815 [GRCh38] Chr11:5247045 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+314C>T | single nucleotide variant | not provided [RCV002195400] | Chr11:5226263 [GRCh38] Chr11:5247493 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-46G>C | single nucleotide variant | not provided [RCV002213885] | Chr11:5225772 [GRCh38] Chr11:5247002 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+46C>T | single nucleotide variant | not provided [RCV002107093] | Chr11:5226884 [GRCh38] Chr11:5248114 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-245C>T | single nucleotide variant | not provided [RCV002130218] | Chr11:5225971 [GRCh38] Chr11:5247201 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+396_315+400del | deletion | not provided [RCV002150467] | Chr11:5226177..5226181 [GRCh38] Chr11:5247407..5247411 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.210T>A (p.Gly70=) | single nucleotide variant | not provided [RCV002097164] | Chr11:5226682 [GRCh38] Chr11:5247912 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-216G>A | single nucleotide variant | not provided [RCV002077883] | Chr11:5225942 [GRCh38] Chr11:5247172 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+360T>C | single nucleotide variant | not provided [RCV002095988] | Chr11:5226217 [GRCh38] Chr11:5247447 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+7C>T | single nucleotide variant | not provided [RCV002152258] | Chr11:5226570 [GRCh38] Chr11:5247800 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+134C>G | single nucleotide variant | not provided [RCV002085769] | Chr11:5226443 [GRCh38] Chr11:5247673 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+225T>A | single nucleotide variant | not provided [RCV002175147] | Chr11:5226352 [GRCh38] Chr11:5247582 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-277_316-274del | microsatellite | not provided [RCV002096031] | Chr11:5226000..5226003 [GRCh38] Chr11:5247230..5247233 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-55G>A | single nucleotide variant | not provided [RCV002213864] | Chr11:5226854 [GRCh38] Chr11:5248084 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-24_93-23del | deletion | not provided [RCV002127756] | Chr11:5226822..5226823 [GRCh38] Chr11:5248052..5248053 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+350G>A | single nucleotide variant | not provided [RCV002130659] | Chr11:5226227 [GRCh38] Chr11:5247457 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-404G>T | single nucleotide variant | not provided [RCV002114584] | Chr11:5226130 [GRCh38] Chr11:5247360 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-209T>C | single nucleotide variant | not provided [RCV002174100] | Chr11:5225935 [GRCh38] Chr11:5247165 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.289C>T (p.Leu97=) | single nucleotide variant | not provided [RCV002130737] | Chr11:5226603 [GRCh38] Chr11:5247833 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.54G>A (p.Lys18=) | single nucleotide variant | not provided [RCV002092837] | Chr11:5226968 [GRCh38] Chr11:5248198 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-64A>G | single nucleotide variant | not provided [RCV002194803] | Chr11:5226863 [GRCh38] Chr11:5248093 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.78T>G (p.Gly26=) | single nucleotide variant | not provided [RCV002133231] | Chr11:5226944 [GRCh38] Chr11:5248174 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+386_315+390del | deletion | not provided [RCV002096665] | Chr11:5226187..5226191 [GRCh38] Chr11:5247417..5247421 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-59C>T | single nucleotide variant | not provided [RCV002167575] | Chr11:5226858 [GRCh38] Chr11:5248088 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-9C>G | single nucleotide variant | not provided [RCV002091460] | Chr11:5225735 [GRCh38] Chr11:5246965 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-49C>A | single nucleotide variant | not provided [RCV002076330] | Chr11:5225775 [GRCh38] Chr11:5247005 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+244T>C | single nucleotide variant | not provided [RCV002152913] | Chr11:5226333 [GRCh38] Chr11:5247563 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.234C>T (p.His78=) | single nucleotide variant | not provided [RCV002196793] | Chr11:5226658 [GRCh38] Chr11:5247888 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+58A>G | single nucleotide variant | not provided [RCV002193278] | Chr11:5226872 [GRCh38] Chr11:5248102 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+83G>T | single nucleotide variant | not provided [RCV002170826] | Chr11:5226494 [GRCh38] Chr11:5247724 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+158_315+166del | deletion | not provided [RCV002134438] | Chr11:5226411..5226419 [GRCh38] Chr11:5247641..5247649 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+287C>A | single nucleotide variant | not provided [RCV002194999] | Chr11:5226290 [GRCh38] Chr11:5247520 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+148A>G | single nucleotide variant | not provided [RCV002132737] | Chr11:5226429 [GRCh38] Chr11:5247659 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+219C>A | single nucleotide variant | not provided [RCV002193315] | Chr11:5226358 [GRCh38] Chr11:5247588 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-219A>G | single nucleotide variant | not provided [RCV002080314] | Chr11:5225945 [GRCh38] Chr11:5247175 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-256A>G | single nucleotide variant | not provided [RCV002189107] | Chr11:5225982 [GRCh38] Chr11:5247212 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+246C>T | single nucleotide variant | not provided [RCV002130071] | Chr11:5226331 [GRCh38] Chr11:5247561 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+11G>C | single nucleotide variant | not provided [RCV002170896] | Chr11:5226566 [GRCh38] Chr11:5247796 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+64A>C | single nucleotide variant | not provided [RCV002213624] | Chr11:5226866 [GRCh38] Chr11:5248096 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-215A>T | single nucleotide variant | not provided [RCV002152094] | Chr11:5225941 [GRCh38] Chr11:5247171 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+388_315+389insAATA | insertion | not provided [RCV002079292] | Chr11:5226188..5226189 [GRCh38] Chr11:5247418..5247419 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+57G>C | single nucleotide variant | not provided [RCV002166859] | Chr11:5226873 [GRCh38] Chr11:5248103 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+9A>C | single nucleotide variant | not provided [RCV002096420]|not specified [RCV005406335] | Chr11:5226568 [GRCh38] Chr11:5247798 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-220C>T | single nucleotide variant | not provided [RCV002194604] | Chr11:5225946 [GRCh38] Chr11:5247176 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-172T>C | single nucleotide variant | not provided [RCV002159463]|not specified [RCV004587298] | Chr11:5225898 [GRCh38] Chr11:5247128 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-16A>G | single nucleotide variant | not provided [RCV002137031] | Chr11:5226815 [GRCh38] Chr11:5248045 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+35_92+36insATAGAATG | insertion | not provided [RCV002099972] | Chr11:5226894..5226895 [GRCh38] Chr11:5248124..5248125 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+293G>T | single nucleotide variant | not provided [RCV002179039] | Chr11:5226284 [GRCh38] Chr11:5247514 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+231C>T | single nucleotide variant | not provided [RCV002157894] | Chr11:5226346 [GRCh38] Chr11:5247576 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-119_316-117del | microsatellite | not provided [RCV002156358] | Chr11:5225843..5225845 [GRCh38] Chr11:5247073..5247075 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-43C>T | single nucleotide variant | not provided [RCV002098348] | Chr11:5225769 [GRCh38] Chr11:5246999 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+210T>A | single nucleotide variant | not provided [RCV002100715] | Chr11:5226367 [GRCh38] Chr11:5247597 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+20G>C | single nucleotide variant | not provided [RCV002204135] | Chr11:5226557 [GRCh38] Chr11:5247787 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-81T>C | single nucleotide variant | not provided [RCV002178144] | Chr11:5225807 [GRCh38] Chr11:5247037 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-284C>A | single nucleotide variant | not provided [RCV002219558] | Chr11:5226010 [GRCh38] Chr11:5247240 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-106C>T | single nucleotide variant | not provided [RCV002102786] | Chr11:5225832 [GRCh38] Chr11:5247062 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-176T>C | single nucleotide variant | not provided [RCV002102860] | Chr11:5225902 [GRCh38] Chr11:5247132 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+45A>G | single nucleotide variant | not provided [RCV002160954] | Chr11:5226532 [GRCh38] Chr11:5247762 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-82G>T | single nucleotide variant | not provided [RCV002157195] | Chr11:5225808 [GRCh38] Chr11:5247038 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.6G>T (p.Val2=) | single nucleotide variant | not provided [RCV002158095] | Chr11:5227016 [GRCh38] Chr11:5248246 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-34C>G | single nucleotide variant | not provided [RCV002203979] | Chr11:5226833 [GRCh38] Chr11:5248063 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-143A>G | single nucleotide variant | not provided [RCV002102386] | Chr11:5225869 [GRCh38] Chr11:5247099 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+56C>T | single nucleotide variant | not provided [RCV002204096] | Chr11:5226521 [GRCh38] Chr11:5247751 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+384T>G | single nucleotide variant | not provided [RCV002183320] | Chr11:5226193 [GRCh38] Chr11:5247423 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-350T>C | single nucleotide variant | not provided [RCV002183909] | Chr11:5226076 [GRCh38] Chr11:5247306 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+181T>C | single nucleotide variant | not provided [RCV002184118] | Chr11:5226396 [GRCh38] Chr11:5247626 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-410T>A | single nucleotide variant | not provided [RCV002180540] | Chr11:5226136 [GRCh38] Chr11:5247366 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+178G>A | single nucleotide variant | not provided [RCV002218145] | Chr11:5226399 [GRCh38] Chr11:5247629 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-44C>T | single nucleotide variant | not provided [RCV002155676] | Chr11:5225770 [GRCh38] Chr11:5247000 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+417A>G | single nucleotide variant | not provided [RCV002101698] | Chr11:5226160 [GRCh38] Chr11:5247390 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+176T>C | single nucleotide variant | not provided [RCV002140451] | Chr11:5226401 [GRCh38] Chr11:5247631 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+34C>A | single nucleotide variant | not provided [RCV002175364] | Chr11:5226543 [GRCh38] Chr11:5247773 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-179A>G | single nucleotide variant | not provided [RCV002137371] | Chr11:5225905 [GRCh38] Chr11:5247135 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.108C>T (p.Tyr36=) | single nucleotide variant | Dominant beta-thalassemia [RCV005050534]|not provided [RCV002182367]|not specified [RCV005419327] | Chr11:5226784 [GRCh38] Chr11:5248014 [GRCh37] Chr11:11p15.4 |
likely benign|uncertain significance |
NM_000518.5(HBB):c.27G>A (p.Lys9=) | single nucleotide variant | not provided [RCV002218670]|not specified [RCV002271718] | Chr11:5226995 [GRCh38] Chr11:5248225 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+397_315+402del | deletion | not provided [RCV002220695] | Chr11:5226175..5226180 [GRCh38] Chr11:5247405..5247410 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+57G>A | single nucleotide variant | not provided [RCV002081633] | Chr11:5226873 [GRCh38] Chr11:5248103 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+65G>A | single nucleotide variant | not provided [RCV002161941] | Chr11:5226512 [GRCh38] Chr11:5247742 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+283_315+284del | microsatellite | not provided [RCV002084298] | Chr11:5226293..5226294 [GRCh38] Chr11:5247523..5247524 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.87G>A (p.Leu29=) | single nucleotide variant | not provided [RCV002198894] | Chr11:5226935 [GRCh38] Chr11:5248165 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+49G>A | single nucleotide variant | not provided [RCV002157065] | Chr11:5226881 [GRCh38] Chr11:5248111 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-41A>C | single nucleotide variant | not provided [RCV002202483] | Chr11:5226840 [GRCh38] Chr11:5248070 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+344A>C | single nucleotide variant | not provided [RCV002178558] | Chr11:5226233 [GRCh38] Chr11:5247463 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-226G>A | single nucleotide variant | not provided [RCV002217723] | Chr11:5225952 [GRCh38] Chr11:5247182 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+183C>G | single nucleotide variant | not provided [RCV002157182] | Chr11:5226394 [GRCh38] Chr11:5247624 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+54G>C | single nucleotide variant | not provided [RCV002201024] | Chr11:5226876 [GRCh38] Chr11:5248106 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-40T>G | single nucleotide variant | not provided [RCV002118978] | Chr11:5225766 [GRCh38] Chr11:5246996 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+117T>A | single nucleotide variant | not provided [RCV002180129] | Chr11:5226460 [GRCh38] Chr11:5247690 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+229T>A | single nucleotide variant | not provided [RCV002159134] | Chr11:5226348 [GRCh38] Chr11:5247578 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-405_316-404inv | inversion | not provided [RCV002178964] | Chr11:5226130..5226131 [GRCh38] Chr11:5247360..5247361 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+330C>A | single nucleotide variant | not provided [RCV002135396] | Chr11:5226247 [GRCh38] Chr11:5247477 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+211_315+213del | deletion | not provided [RCV002100281] | Chr11:5226364..5226366 [GRCh38] Chr11:5247594..5247596 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.78T>C (p.Gly26=) | single nucleotide variant | not provided [RCV002198339] | Chr11:5226944 [GRCh38] Chr11:5248174 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-262G>C | single nucleotide variant | not provided [RCV002179792] | Chr11:5225988 [GRCh38] Chr11:5247218 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+118G>A | single nucleotide variant | not provided [RCV002181316] | Chr11:5226459 [GRCh38] Chr11:5247689 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+412T>C | single nucleotide variant | not provided [RCV002141696] | Chr11:5226165 [GRCh38] Chr11:5247395 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.258T>C (p.Phe86=) | single nucleotide variant | not provided [RCV002155136] | Chr11:5226634 [GRCh38] Chr11:5247864 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-154G>T | single nucleotide variant | not provided [RCV002176500] | Chr11:5225880 [GRCh38] Chr11:5247110 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-66A>T | single nucleotide variant | not provided [RCV002163089] | Chr11:5225792 [GRCh38] Chr11:5247022 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.336C>T (p.Val112=) | single nucleotide variant | not provided [RCV002180428] | Chr11:5225706 [GRCh38] Chr11:5246936 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-28G>T | single nucleotide variant | not provided [RCV002182332] | Chr11:5225754 [GRCh38] Chr11:5246984 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.9:g.(?_5247870)_(5251001_?)del | deletion | not provided [RCV003111332] | Chr11:5247870..5251001 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.315+309C>A | single nucleotide variant | not provided [RCV003112840] | Chr11:5226268 [GRCh38] Chr11:5247498 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.-39T>C | single nucleotide variant | not specified [RCV004783616] | Chr11:5227060 [GRCh38] Chr11:5248290 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*37C>G | single nucleotide variant | not specified [RCV003123395] | Chr11:5225561 [GRCh38] Chr11:5246791 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.269del (p.Ser90fs) | deletion | beta Thalassemia [RCV002250997] | Chr11:5226623 [GRCh38] Chr11:5247853 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.4(HBB):c.-146G>T | single nucleotide variant | not specified [RCV003230925] | Chr11:5227167 [GRCh38] Chr11:5248397 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.4(HBB):c.-136C>A | single nucleotide variant | beta Thalassemia [RCV003236443] | Chr11:5227157 [GRCh38] Chr11:5248387 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.92+15_92+16insTGG | insertion | not specified [RCV002266289] | Chr11:5226914..5226915 [GRCh38] Chr11:5248144..5248145 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*117C>T | single nucleotide variant | not specified [RCV002271931] | Chr11:5225481 [GRCh38] Chr11:5246711 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.315G>A (p.Arg105=) | single nucleotide variant | not specified [RCV002282831] | Chr11:5226577 [GRCh38] Chr11:5247807 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.420T>G (p.Asn140Lys) | single nucleotide variant | not specified [RCV003236444] | Chr11:5225622 [GRCh38] Chr11:5246852 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-194T>C | single nucleotide variant | not specified [RCV003236446] | Chr11:5225920 [GRCh38] Chr11:5247150 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 | copy number gain | See cases [RCV002286351] | Chr11:230615..26881146 [GRCh37] Chr11:11p15.5-14.2 |
pathogenic |
NM_000518.5(HBB):c.382C>T (p.Gln128Ter) | single nucleotide variant | Dominant beta-thalassemia [RCV003226537]|not provided [RCV003478957] | Chr11:5225660 [GRCh38] Chr11:5246890 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.(499700_4999400)_(5279346_5279697)del | deletion | Thalassemia, gamma-delta-beta [RCV000015529] | Chr11:4999400..5279346 [GRCh38] Chr11:11p15.5-15.4 |
pathogenic |
NM_000518.5(HBB):c.306G>T (p.Glu102Asp) | single nucleotide variant | not provided [RCV003131099] | Chr11:5226586 [GRCh38] Chr11:5247816 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.93-56G>A | single nucleotide variant | not provided [RCV002465964] | Chr11:5226855 [GRCh38] Chr11:5248085 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.-12C>T | single nucleotide variant | not specified [RCV002469983] | Chr11:5227033 [GRCh38] Chr11:5248263 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 | copy number gain | not provided [RCV002472435] | Chr11:230616..8250724 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_000518.5(HBB):c.*112A>T | single nucleotide variant | not provided [RCV003478963]|not specified [RCV002308596] | Chr11:5225486 [GRCh38] Chr11:5246716 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.135C>G (p.Ser45=) | single nucleotide variant | Inborn genetic diseases [RCV002383446] | Chr11:5226757 [GRCh38] Chr11:5247987 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+330C>G | single nucleotide variant | not provided [RCV002750937] | Chr11:5226247 [GRCh38] Chr11:5247477 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.102G>A (p.Val34=) | single nucleotide variant | not provided [RCV002775108] | Chr11:5226790 [GRCh38] Chr11:5248020 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+178_315+180del | deletion | not provided [RCV002861730] | Chr11:5226397..5226399 [GRCh38] Chr11:5247627..5247629 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-376A>G | single nucleotide variant | not provided [RCV002858077] | Chr11:5226102 [GRCh38] Chr11:5247332 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-61C>A | single nucleotide variant | not provided [RCV003012259] | Chr11:5226860 [GRCh38] Chr11:5248090 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.*16G>A | single nucleotide variant | not provided [RCV002481143] | Chr11:5225582 [GRCh38] Chr11:5246812 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.315+53G>T | single nucleotide variant | not provided [RCV002776534] | Chr11:5226524 [GRCh38] Chr11:5247754 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+316C>G | single nucleotide variant | not provided [RCV003035240] | Chr11:5226261 [GRCh38] Chr11:5247491 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.357T>C (p.Phe119=) | single nucleotide variant | not provided [RCV002908913] | Chr11:5225685 [GRCh38] Chr11:5246915 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-39T>C | single nucleotide variant | not provided [RCV002842593] | Chr11:5226838 [GRCh38] Chr11:5248068 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+124G>A | single nucleotide variant | not provided [RCV002862701] | Chr11:5226453 [GRCh38] Chr11:5247683 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-166T>C | single nucleotide variant | not provided [RCV002816623] | Chr11:5225892 [GRCh38] Chr11:5247122 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-99T>C | single nucleotide variant | not provided [RCV002842385] | Chr11:5225825 [GRCh38] Chr11:5247055 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-33_96delinsACTGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA | indel | not provided [RCV002863133] | Chr11:5226796..5226832 [GRCh38] Chr11:5248026..5248062 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.93-33_101del | deletion | not provided [RCV002903856] | Chr11:5226791..5226832 [GRCh38] Chr11:5248021..5248062 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NC_000011.10:g.5225454A>C | single nucleotide variant | not provided [RCV002775273] | Chr11:5225454 [GRCh38] Chr11:5246684 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+47G>C | single nucleotide variant | not provided [RCV002613502] | Chr11:5226530 [GRCh38] Chr11:5247760 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-178T>A | single nucleotide variant | not provided [RCV002842525] | Chr11:5225904 [GRCh38] Chr11:5247134 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.408T>C (p.Ala136=) | single nucleotide variant | not provided [RCV002819866] | Chr11:5225634 [GRCh38] Chr11:5246864 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+72_315+75dup | duplication | not provided [RCV002862230] | Chr11:5226501..5226502 [GRCh38] Chr11:5247731..5247732 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+38C>T | single nucleotide variant | not provided [RCV002905009] | Chr11:5226539 [GRCh38] Chr11:5247769 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-260T>A | single nucleotide variant | not provided [RCV002755215] | Chr11:5225986 [GRCh38] Chr11:5247216 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-235C>G | single nucleotide variant | not provided [RCV002880623] | Chr11:5225961 [GRCh38] Chr11:5247191 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+44T>C | single nucleotide variant | not provided [RCV003078155] | Chr11:5226533 [GRCh38] Chr11:5247763 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.102G>T (p.Val34=) | single nucleotide variant | not provided [RCV002889153] | Chr11:5226790 [GRCh38] Chr11:5248020 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-370G>T | single nucleotide variant | not provided [RCV002825336] | Chr11:5226096 [GRCh38] Chr11:5247326 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+342G>A | single nucleotide variant | not provided [RCV002909472] | Chr11:5226235 [GRCh38] Chr11:5247465 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-25C>T | single nucleotide variant | not provided [RCV002999779] | Chr11:5225751 [GRCh38] Chr11:5246981 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-25C>G | single nucleotide variant | not provided [RCV002740228] | Chr11:5225751 [GRCh38] Chr11:5246981 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-345A>C | single nucleotide variant | not provided [RCV002889221] | Chr11:5226071 [GRCh38] Chr11:5247301 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-328T>A | single nucleotide variant | not provided [RCV002871334] | Chr11:5226054 [GRCh38] Chr11:5247284 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+205T>C | single nucleotide variant | not provided [RCV003021913] | Chr11:5226372 [GRCh38] Chr11:5247602 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+10A>C | single nucleotide variant | not provided [RCV003022016] | Chr11:5226920 [GRCh38] Chr11:5248150 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.331C>T (p.Leu111=) | single nucleotide variant | not provided [RCV002823947] | Chr11:5225711 [GRCh38] Chr11:5246941 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+168C>T | single nucleotide variant | not provided [RCV003003197] | Chr11:5226409 [GRCh38] Chr11:5247639 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+266A>G | single nucleotide variant | not provided [RCV003039648] | Chr11:5226311 [GRCh38] Chr11:5247541 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+248T>C | single nucleotide variant | not provided [RCV002953374] | Chr11:5226329 [GRCh38] Chr11:5247559 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-44G>C | single nucleotide variant | not provided [RCV003019142] | Chr11:5226843 [GRCh38] Chr11:5248073 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-39T>C | single nucleotide variant | not provided [RCV002735222] | Chr11:5225765 [GRCh38] Chr11:5246995 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+83G>A | single nucleotide variant | not provided [RCV002824118] | Chr11:5226494 [GRCh38] Chr11:5247724 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-324A>G | single nucleotide variant | not provided [RCV002820468] | Chr11:5226050 [GRCh38] Chr11:5247280 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-270G>A | single nucleotide variant | not provided [RCV003000047] | Chr11:5225996 [GRCh38] Chr11:5247226 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+12G>T | single nucleotide variant | not provided [RCV002736524] | Chr11:5226565 [GRCh38] Chr11:5247795 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.111T>G (p.Pro37=) | single nucleotide variant | not provided [RCV003000178] | Chr11:5226781 [GRCh38] Chr11:5248011 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+288A>C | single nucleotide variant | not provided [RCV002620925] | Chr11:5226289 [GRCh38] Chr11:5247519 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+404T>C | single nucleotide variant | not provided [RCV002640105] | Chr11:5226173 [GRCh38] Chr11:5247403 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.285C>T (p.Asp95=) | single nucleotide variant | not provided [RCV002800021] | Chr11:5226607 [GRCh38] Chr11:5247837 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+214del | deletion | not provided [RCV003035913] | Chr11:5226363 [GRCh38] Chr11:5247593 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-254G>A | single nucleotide variant | not provided [RCV002843914] | Chr11:5225980 [GRCh38] Chr11:5247210 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+321T>G | single nucleotide variant | not provided [RCV002871101] | Chr11:5226256 [GRCh38] Chr11:5247486 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+299T>A | single nucleotide variant | not provided [RCV002866569] | Chr11:5226278 [GRCh38] Chr11:5247508 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+8T>C | single nucleotide variant | not provided [RCV002706716]|not specified [RCV005406506] | Chr11:5226569 [GRCh38] Chr11:5247799 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-89T>A | single nucleotide variant | not provided [RCV003006262] | Chr11:5225815 [GRCh38] Chr11:5247045 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+64A>G | single nucleotide variant | not provided [RCV003007919] | Chr11:5226866 [GRCh38] Chr11:5248096 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-84T>C | single nucleotide variant | not provided [RCV003005981] | Chr11:5225810 [GRCh38] Chr11:5247040 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+423C>T | single nucleotide variant | not provided [RCV003008003] | Chr11:5226154 [GRCh38] Chr11:5247384 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+230A>G | single nucleotide variant | not provided [RCV002853315] | Chr11:5226347 [GRCh38] Chr11:5247577 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.246C>T (p.Leu82=) | single nucleotide variant | not provided [RCV003007531]|not specified [RCV005239596] | Chr11:5226646 [GRCh38] Chr11:5247876 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-79G>A | single nucleotide variant | not provided [RCV002624937]|not specified [RCV004783021] | Chr11:5225805 [GRCh38] Chr11:5247035 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.315+322G>A | single nucleotide variant | not provided [RCV002801813] | Chr11:5226255 [GRCh38] Chr11:5247485 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+229dup | duplication | not provided [RCV002852128] | Chr11:5226347..5226348 [GRCh38] Chr11:5247577..5247578 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.316-149T>A | single nucleotide variant | not provided [RCV002801725] | Chr11:5225875 [GRCh38] Chr11:5247105 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+342G>T | single nucleotide variant | not provided [RCV003041566] | Chr11:5226235 [GRCh38] Chr11:5247465 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+88_315+89del | deletion | not provided [RCV003006511] | Chr11:5226488..5226489 [GRCh38] Chr11:5247718..5247719 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+305A>G | single nucleotide variant | not provided [RCV003056280] | Chr11:5226272 [GRCh38] Chr11:5247502 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+119C>A | single nucleotide variant | not provided [RCV002852686] | Chr11:5226458 [GRCh38] Chr11:5247688 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.10:g.5227197G>A | single nucleotide variant | not provided [RCV002624938] | Chr11:5227197 [GRCh38] Chr11:5248427 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.315+331A>G | single nucleotide variant | not provided [RCV003039795] | Chr11:5226246 [GRCh38] Chr11:5247476 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-31T>G | single nucleotide variant | not provided [RCV002871743] | Chr11:5226830 [GRCh38] Chr11:5248060 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+352G>A | single nucleotide variant | not provided [RCV003023514] | Chr11:5226225 [GRCh38] Chr11:5247455 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-393T>C | single nucleotide variant | not provided [RCV003043430] | Chr11:5226119 [GRCh38] Chr11:5247349 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+307A>G | single nucleotide variant | not provided [RCV002828706] | Chr11:5226270 [GRCh38] Chr11:5247500 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-27C>A | single nucleotide variant | not provided [RCV002626574] | Chr11:5226826 [GRCh38] Chr11:5248056 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.252C>T (p.Gly84=) | single nucleotide variant | not provided [RCV002919169] | Chr11:5226640 [GRCh38] Chr11:5247870 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+375C>A | single nucleotide variant | not provided [RCV003057962] | Chr11:5226202 [GRCh38] Chr11:5247432 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-65_93-64del | deletion | not provided [RCV003006364] | Chr11:5226863..5226864 [GRCh38] Chr11:5248093..5248094 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.45G>T (p.Leu15=) | single nucleotide variant | not provided [RCV002894434] | Chr11:5226977 [GRCh38] Chr11:5248207 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-328del | deletion | not provided [RCV002853418] | Chr11:5226054 [GRCh38] Chr11:5247284 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+300A>T | single nucleotide variant | not provided [RCV002851711] | Chr11:5226277 [GRCh38] Chr11:5247507 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+26T>C | single nucleotide variant | not provided [RCV002765988] | Chr11:5226551 [GRCh38] Chr11:5247781 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-245C>A | single nucleotide variant | not provided [RCV002745243] | Chr11:5225971 [GRCh38] Chr11:5247201 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-131A>G | single nucleotide variant | not provided [RCV003024853] | Chr11:5225857 [GRCh38] Chr11:5247087 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-344A>C | single nucleotide variant | not provided [RCV002790945] | Chr11:5226070 [GRCh38] Chr11:5247300 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-173A>T | single nucleotide variant | not provided [RCV002851133] | Chr11:5225899 [GRCh38] Chr11:5247129 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-18C>G | single nucleotide variant | not provided [RCV002805276] | Chr11:5226817 [GRCh38] Chr11:5248047 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+47G>A | single nucleotide variant | not provided [RCV002626611] | Chr11:5226530 [GRCh38] Chr11:5247760 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-286A>C | single nucleotide variant | not provided [RCV002872652] | Chr11:5226012 [GRCh38] Chr11:5247242 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+164T>C | single nucleotide variant | not provided [RCV003044893] | Chr11:5226413 [GRCh38] Chr11:5247643 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+32G>A | single nucleotide variant | not provided [RCV002791861] | Chr11:5226898 [GRCh38] Chr11:5248128 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-185C>G | single nucleotide variant | not provided [RCV002899062] | Chr11:5225911 [GRCh38] Chr11:5247141 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+315A>C | single nucleotide variant | not provided [RCV003029063] | Chr11:5226262 [GRCh38] Chr11:5247492 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+418T>C | single nucleotide variant | not provided [RCV002791982] | Chr11:5226159 [GRCh38] Chr11:5247389 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-386A>C | single nucleotide variant | not provided [RCV002877302] | Chr11:5226112 [GRCh38] Chr11:5247342 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+257T>A | single nucleotide variant | not provided [RCV003029264] | Chr11:5226320 [GRCh38] Chr11:5247550 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-119A>G | single nucleotide variant | not provided [RCV003065866] | Chr11:5225845 [GRCh38] Chr11:5247075 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.249G>A (p.Lys83=) | single nucleotide variant | not provided [RCV002646829] | Chr11:5226643 [GRCh38] Chr11:5247873 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+129del | deletion | not provided [RCV003009855] | Chr11:5226448 [GRCh38] Chr11:5247678 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-78G>A | single nucleotide variant | not provided [RCV003044711] | Chr11:5225804 [GRCh38] Chr11:5247034 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-48del | deletion | not provided [RCV003045679] | Chr11:5225774 [GRCh38] Chr11:5247004 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-49C>G | single nucleotide variant | not provided [RCV003045680] | Chr11:5225775 [GRCh38] Chr11:5247005 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+128G>C | single nucleotide variant | not provided [RCV003009857] | Chr11:5226449 [GRCh38] Chr11:5247679 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+210_315+213del | deletion | not provided [RCV003087464] | Chr11:5226364..5226367 [GRCh38] Chr11:5247594..5247597 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+22C>T | single nucleotide variant | not provided [RCV002877224] | Chr11:5226908 [GRCh38] Chr11:5248138 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+217C>A | single nucleotide variant | not provided [RCV003029060] | Chr11:5226360 [GRCh38] Chr11:5247590 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-360C>T | single nucleotide variant | not provided [RCV003029283] | Chr11:5226086 [GRCh38] Chr11:5247316 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+45A>C | single nucleotide variant | not provided [RCV003044579] | Chr11:5226532 [GRCh38] Chr11:5247762 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+237T>C | single nucleotide variant | not provided [RCV003045656] | Chr11:5226340 [GRCh38] Chr11:5247570 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-264A>G | single nucleotide variant | not provided [RCV003029093] | Chr11:5225990 [GRCh38] Chr11:5247220 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+22C>A | single nucleotide variant | not provided [RCV002937702] | Chr11:5226908 [GRCh38] Chr11:5248138 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-65T>G | single nucleotide variant | not provided [RCV002835104] | Chr11:5225791 [GRCh38] Chr11:5247021 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-145G>T | single nucleotide variant | not provided [RCV002877527] | Chr11:5225871 [GRCh38] Chr11:5247101 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+65G>A | single nucleotide variant | not provided [RCV002746576] | Chr11:5226865 [GRCh38] Chr11:5248095 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.276G>A (p.Leu92=) | single nucleotide variant | not provided [RCV002833857] | Chr11:5226616 [GRCh38] Chr11:5247846 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+319T>C | single nucleotide variant | not provided [RCV002899335] | Chr11:5226258 [GRCh38] Chr11:5247488 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+366A>G | single nucleotide variant | not provided [RCV003029719] | Chr11:5226211 [GRCh38] Chr11:5247441 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+211T>A | single nucleotide variant | not provided [RCV002899522] | Chr11:5226366 [GRCh38] Chr11:5247596 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+50T>A | single nucleotide variant | not provided [RCV002961888] | Chr11:5226527 [GRCh38] Chr11:5247757 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+36C>T | single nucleotide variant | not provided [RCV002900429] | Chr11:5226894 [GRCh38] Chr11:5248124 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+207T>C | single nucleotide variant | not provided [RCV003048648] | Chr11:5226370 [GRCh38] Chr11:5247600 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+199G>A | single nucleotide variant | not provided [RCV002900510] | Chr11:5226378 [GRCh38] Chr11:5247608 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+21A>G | single nucleotide variant | not provided [RCV002811244] | Chr11:5226909 [GRCh38] Chr11:5248139 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+299T>C | single nucleotide variant | not provided [RCV002746243] | Chr11:5226278 [GRCh38] Chr11:5247508 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+65G>T | single nucleotide variant | not provided [RCV003046656] | Chr11:5226865 [GRCh38] Chr11:5248095 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-291C>T | single nucleotide variant | not provided [RCV002835295] | Chr11:5226017 [GRCh38] Chr11:5247247 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-216G>C | single nucleotide variant | not provided [RCV003048020] | Chr11:5225942 [GRCh38] Chr11:5247172 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-38G>A | single nucleotide variant | not provided [RCV003010423] | Chr11:5226837 [GRCh38] Chr11:5248067 [GRCh37] Chr11:11p15.4 |
likely benign|conflicting interpretations of pathogenicity |
NM_000518.5(HBB):c.315+308_315+309insG | insertion | not provided [RCV003066234] | Chr11:5226268..5226269 [GRCh38] Chr11:5247498..5247499 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-308C>A | single nucleotide variant | not provided [RCV003052513] | Chr11:5226034 [GRCh38] Chr11:5247264 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+351T>A | single nucleotide variant | not provided [RCV003051524] | Chr11:5226226 [GRCh38] Chr11:5247456 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-106C>A | single nucleotide variant | not specified [RCV003155685] | Chr11:5225832 [GRCh38] Chr11:5247062 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*5G>C | single nucleotide variant | not specified [RCV003155736] | Chr11:5225593 [GRCh38] Chr11:5246823 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.372C>G (p.Thr124=) | single nucleotide variant | not provided [RCV003549024]|not specified [RCV003226680] | Chr11:5225670 [GRCh38] Chr11:5246900 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.289_290delinsGG (p.Leu97Gly) | indel | not provided [RCV003135515] | Chr11:5226602..5226603 [GRCh38] Chr11:5247832..5247833 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*57C>G | single nucleotide variant | not provided [RCV003477068]|not specified [RCV003226681] | Chr11:5225541 [GRCh38] Chr11:5246771 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.118_121dup (p.Arg41fs) | duplication | Hemoglobinopathy [RCV003324392] | Chr11:5226770..5226771 [GRCh38] Chr11:5248000..5248001 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.276G>T (p.Leu92=) | single nucleotide variant | not specified [RCV003324390] | Chr11:5226616 [GRCh38] Chr11:5247846 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-44C>G | single nucleotide variant | not specified [RCV003324389] | Chr11:5225770 [GRCh38] Chr11:5247000 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.259G>T (p.Ala87Ser) | single nucleotide variant | not specified [RCV003324391] | Chr11:5226633 [GRCh38] Chr11:5247863 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.421_422delinsAT (p.Ala141Ile) | indel | Erythrocytosis, familial, 6 [RCV003337869] | Chr11:5225620..5225621 [GRCh38] Chr11:5246850..5246851 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-222A>G | single nucleotide variant | not provided [RCV003569229] | Chr11:5225948 [GRCh38] Chr11:5247178 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+164T>G | single nucleotide variant | not provided [RCV003569452] | Chr11:5226413 [GRCh38] Chr11:5247643 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.10:g.5227261C>T | single nucleotide variant | not provided [RCV002211175] | Chr11:5227261 [GRCh38] Chr11:5248491 [GRCh37] Chr11:11p15.4 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_000518.4(HBB):c.-106G>A | single nucleotide variant | not provided [RCV003477267] | Chr11:5227127 [GRCh38] Chr11:5248357 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.4(HBB):c.-137_-136insG | insertion | not provided [RCV003477270] | Chr11:5227157..5227158 [GRCh38] Chr11:5248387..5248388 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.24G>C (p.Glu8Asp) | single nucleotide variant | not provided [RCV003477277] | Chr11:5226998 [GRCh38] Chr11:5248228 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.93-19T>C | single nucleotide variant | not provided [RCV003570240] | Chr11:5226818 [GRCh38] Chr11:5248048 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-348T>A | single nucleotide variant | not provided [RCV003571468] | Chr11:5226074 [GRCh38] Chr11:5247304 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.114G>T (p.Trp38Cys) | single nucleotide variant | not provided [RCV003477269] | Chr11:5226778 [GRCh38] Chr11:5248008 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-13C>T | single nucleotide variant | not provided [RCV003570355] | Chr11:5225739 [GRCh38] Chr11:5246969 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-335C>A | single nucleotide variant | not provided [RCV003570522] | Chr11:5226061 [GRCh38] Chr11:5247291 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+256G>A | single nucleotide variant | not provided [RCV003543803] | Chr11:5226321 [GRCh38] Chr11:5247551 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+63T>G | single nucleotide variant | not provided [RCV003571306] | Chr11:5226514 [GRCh38] Chr11:5247744 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+25G>A | single nucleotide variant | not provided [RCV003712673] | Chr11:5226905 [GRCh38] Chr11:5248135 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.-130T>C | single nucleotide variant | not specified [RCV003479851] | Chr11:5227151 [GRCh38] Chr11:5248381 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.315+5G>A | single nucleotide variant | not provided [RCV005402036]|not specified [RCV003480005] | Chr11:5226572 [GRCh38] Chr11:5247802 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.212C>G (p.Ala71Gly) | single nucleotide variant | not provided [RCV003477275] | Chr11:5226680 [GRCh38] Chr11:5247910 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.24G>A (p.Glu8=) | single nucleotide variant | not provided [RCV003477276] | Chr11:5226998 [GRCh38] Chr11:5248228 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.342dup (p.Leu115fs) | duplication | not provided [RCV003477282] | Chr11:5225699..5225700 [GRCh38] Chr11:5246929..5246930 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.185A>C (p.Lys62Thr) | single nucleotide variant | not provided [RCV003477272] | Chr11:5226707 [GRCh38] Chr11:5247937 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.263_267dup (p.Ser90delinsHisTer) | duplication | not provided [RCV003477278] | Chr11:5226624..5226625 [GRCh38] Chr11:5247854..5247855 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
GRCh37/hg19 11p15.4(chr11:5183175-5269140)x1 | copy number loss | not provided [RCV003483111] | Chr11:5183175..5269140 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.407C>T (p.Ala136Val) | single nucleotide variant | not specified [RCV003479690] | Chr11:5225635 [GRCh38] Chr11:5246865 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.433A>T (p.Lys145Ter) | single nucleotide variant | not provided [RCV003478200] | Chr11:5225609 [GRCh38] Chr11:5246839 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.4(chr11:5187271-5258592)x1 | copy number loss | not provided [RCV003483112] | Chr11:5187271..5258592 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.114del (p.Pro37_Trp38insTer) | deletion | not provided [RCV003477268] | Chr11:5226778 [GRCh38] Chr11:5248008 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.193G>A (p.Gly65Ser) | single nucleotide variant | not provided [RCV003477273] | Chr11:5226699 [GRCh38] Chr11:5247929 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.202G>C (p.Val68Leu) | single nucleotide variant | not provided [RCV003477274] | Chr11:5226690 [GRCh38] Chr11:5247920 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.279C>G (p.His93Gln) | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV003447721] | Chr11:5226613 [GRCh38] Chr11:5247843 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.*4C>T | single nucleotide variant | not provided [RCV003477263]|not specified [RCV005407166] | Chr11:5225594 [GRCh38] Chr11:5246824 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*5G>A | single nucleotide variant | not provided [RCV003477264] | Chr11:5225593 [GRCh38] Chr11:5246823 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*78T>A | single nucleotide variant | not provided [RCV003477266] | Chr11:5225520 [GRCh38] Chr11:5246750 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-179A>T | single nucleotide variant | not provided [RCV003477280] | Chr11:5225905 [GRCh38] Chr11:5247135 [GRCh37] Chr11:11p15.4 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000518.5(HBB):c.316-7C>T | single nucleotide variant | not provided [RCV003477281] | Chr11:5225733 [GRCh38] Chr11:5246963 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3 | copy number gain | Russell-Silver syndrome [RCV003444025] | Chr11:230615..8821443 [GRCh37] Chr11:11p15.5-15.4 |
pathogenic |
NM_000518.5(HBB):c.181G>T (p.Val61Leu) | single nucleotide variant | HBB-related disorder [RCV004528677] | Chr11:5226711 [GRCh38] Chr11:5247941 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-144T>A | single nucleotide variant | not provided [RCV003689673] | Chr11:5225870 [GRCh38] Chr11:5247100 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-248T>C | single nucleotide variant | not provided [RCV003692021] | Chr11:5225974 [GRCh38] Chr11:5247204 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.213C>T (p.Ala71=) | single nucleotide variant | not provided [RCV003579034] | Chr11:5226679 [GRCh38] Chr11:5247909 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+324C>T | single nucleotide variant | not provided [RCV003691094] | Chr11:5226253 [GRCh38] Chr11:5247483 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-87T>G | single nucleotide variant | not provided [RCV003577587] | Chr11:5225813 [GRCh38] Chr11:5247043 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+170T>G | single nucleotide variant | not provided [RCV003574311] | Chr11:5226407 [GRCh38] Chr11:5247637 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-51A>C | single nucleotide variant | not provided [RCV003715164]|not specified [RCV005063129] | Chr11:5225777 [GRCh38] Chr11:5247007 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+392T>C | single nucleotide variant | not provided [RCV003693812] | Chr11:5226185 [GRCh38] Chr11:5247415 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+245G>A | single nucleotide variant | not provided [RCV003696397] | Chr11:5226332 [GRCh38] Chr11:5247562 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-149T>C | single nucleotide variant | not provided [RCV003573168] | Chr11:5225875 [GRCh38] Chr11:5247105 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+188_315+191del | deletion | not provided [RCV003693993] | Chr11:5226386..5226389 [GRCh38] Chr11:5247616..5247619 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+369C>T | single nucleotide variant | not provided [RCV003824835] | Chr11:5226208 [GRCh38] Chr11:5247438 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+104A>T | single nucleotide variant | not provided [RCV003578689] | Chr11:5226473 [GRCh38] Chr11:5247703 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-308C>T | single nucleotide variant | not provided [RCV003693555] | Chr11:5226034 [GRCh38] Chr11:5247264 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-119A>C | single nucleotide variant | not provided [RCV003686738] | Chr11:5225845 [GRCh38] Chr11:5247075 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-389C>A | single nucleotide variant | not provided [RCV003713687] | Chr11:5226115 [GRCh38] Chr11:5247345 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+294T>G | single nucleotide variant | not provided [RCV003693137] | Chr11:5226283 [GRCh38] Chr11:5247513 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-122A>T | single nucleotide variant | not provided [RCV003694269] | Chr11:5225848 [GRCh38] Chr11:5247078 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.10:g.5227294= | variation | not provided [RCV003120271] | Chr11:5227294 [GRCh38] Chr11:5248524 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+356T>C | single nucleotide variant | not provided [RCV003687660] | Chr11:5226221 [GRCh38] Chr11:5247451 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+167T>C | single nucleotide variant | not provided [RCV003715113] | Chr11:5226410 [GRCh38] Chr11:5247640 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-309T>C | single nucleotide variant | not provided [RCV003577265] | Chr11:5226035 [GRCh38] Chr11:5247265 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-182T>G | single nucleotide variant | not provided [RCV003662859] | Chr11:5225908 [GRCh38] Chr11:5247138 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+164del | deletion | not provided [RCV003695132] | Chr11:5226413 [GRCh38] Chr11:5247643 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-199G>A | single nucleotide variant | not provided [RCV003575498] | Chr11:5225925 [GRCh38] Chr11:5247155 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-24A>C | single nucleotide variant | not provided [RCV003691578] | Chr11:5225750 [GRCh38] Chr11:5246980 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+238A>G | single nucleotide variant | not provided [RCV003578498] | Chr11:5226339 [GRCh38] Chr11:5247569 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.116C>G (p.Thr39Ser) | single nucleotide variant | not specified [RCV003490830] | Chr11:5226776 [GRCh38] Chr11:5248006 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.315+219C>T | single nucleotide variant | not provided [RCV003692949] | Chr11:5226358 [GRCh38] Chr11:5247588 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+89A>T | single nucleotide variant | not provided [RCV003660741] | Chr11:5226488 [GRCh38] Chr11:5247718 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+222C>A | single nucleotide variant | not provided [RCV003572095] | Chr11:5226355 [GRCh38] Chr11:5247585 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+296A>G | single nucleotide variant | not provided [RCV003687895] | Chr11:5226281 [GRCh38] Chr11:5247511 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.4(HBB):c.-122T>C | single nucleotide variant | Thalassemia [RCV003517868] | Chr11:5227143 [GRCh38] Chr11:5248373 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-170T>C | single nucleotide variant | not provided [RCV003573712] | Chr11:5225896 [GRCh38] Chr11:5247126 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.10:g.5226995_5227524del | deletion | not provided [RCV003695996] | Chr11:5226993..5227522 [GRCh38] Chr11:5248223..5248752 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.345_348dup (p.His117fs) | duplication | Hemoglobinopathy [RCV003489626] | Chr11:5225693..5225694 [GRCh38] Chr11:5246923..5246924 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.315+122C>A | single nucleotide variant | not provided [RCV003573763] | Chr11:5226455 [GRCh38] Chr11:5247685 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+82_315+83del | deletion | not provided [RCV003693706]|not specified [RCV005240866] | Chr11:5226494..5226495 [GRCh38] Chr11:5247724..5247725 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-14T>C | single nucleotide variant | not provided [RCV003695749] | Chr11:5225740 [GRCh38] Chr11:5246970 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+74T>A | single nucleotide variant | not provided [RCV003713886] | Chr11:5226503 [GRCh38] Chr11:5247733 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-394G>C | single nucleotide variant | not provided [RCV003714411] | Chr11:5226120 [GRCh38] Chr11:5247350 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-191C>T | single nucleotide variant | not provided [RCV003715095] | Chr11:5225917 [GRCh38] Chr11:5247147 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+60T>C | single nucleotide variant | not provided [RCV003547695] | Chr11:5226517 [GRCh38] Chr11:5247747 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+262A>G | single nucleotide variant | not provided [RCV003690782] | Chr11:5226315 [GRCh38] Chr11:5247545 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-102C>T | single nucleotide variant | not provided [RCV003573023] | Chr11:5225828 [GRCh38] Chr11:5247058 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+37T>A | single nucleotide variant | not provided [RCV003572878] | Chr11:5226540 [GRCh38] Chr11:5247770 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.195C>T (p.Gly65=) | single nucleotide variant | not provided [RCV003688562] | Chr11:5226697 [GRCh38] Chr11:5247927 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+18T>C | single nucleotide variant | not provided [RCV003661617] | Chr11:5226559 [GRCh38] Chr11:5247789 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+338T>G | single nucleotide variant | not provided [RCV003573221] | Chr11:5226239 [GRCh38] Chr11:5247469 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-60C>G | single nucleotide variant | not provided [RCV003692489] | Chr11:5225786 [GRCh38] Chr11:5247016 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-191C>A | single nucleotide variant | not provided [RCV003575689] | Chr11:5225917 [GRCh38] Chr11:5247147 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-38del | deletion | not provided [RCV003547058] | Chr11:5225764 [GRCh38] Chr11:5246994 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.316-390A>G | single nucleotide variant | not provided [RCV003572307] | Chr11:5226116 [GRCh38] Chr11:5247346 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-315dup | duplication | not provided [RCV003688066] | Chr11:5226040..5226041 [GRCh38] Chr11:5247270..5247271 [GRCh37] Chr11:11p15.4 |
benign |
NM_000518.5(HBB):c.315+259dup | duplication | not provided [RCV003544091] | Chr11:5226317..5226318 [GRCh38] Chr11:5247547..5247548 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+406G>A | single nucleotide variant | not provided [RCV003661441] | Chr11:5226171 [GRCh38] Chr11:5247401 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.354C>T (p.His118=) | single nucleotide variant | not provided [RCV003716843] | Chr11:5225688 [GRCh38] Chr11:5246918 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+351T>C | single nucleotide variant | not provided [RCV003663726] | Chr11:5226226 [GRCh38] Chr11:5247456 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-417G>T | single nucleotide variant | not provided [RCV003549360] | Chr11:5226143 [GRCh38] Chr11:5247373 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-284C>T | single nucleotide variant | not provided [RCV003699757] | Chr11:5226010 [GRCh38] Chr11:5247240 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.84C>A (p.Ala28=) | single nucleotide variant | not provided [RCV003702935] | Chr11:5226938 [GRCh38] Chr11:5248168 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.9:g.(?_5246693)_(5246957_5247806)del | deletion | beta Thalassemia [RCV003994950] | Chr11:5246693..5246957 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.315+243A>T | single nucleotide variant | not provided [RCV003550077] | Chr11:5226334 [GRCh38] Chr11:5247564 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+251A>C | single nucleotide variant | not provided [RCV003701702] | Chr11:5226326 [GRCh38] Chr11:5247556 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+411A>G | single nucleotide variant | not provided [RCV003699987] | Chr11:5226166 [GRCh38] Chr11:5247396 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+361T>G | single nucleotide variant | not provided [RCV003812048] | Chr11:5226216 [GRCh38] Chr11:5247446 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-5C>G | single nucleotide variant | not provided [RCV003665906] | Chr11:5226804 [GRCh38] Chr11:5248034 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+385dup | duplication | not provided [RCV003703727] | Chr11:5226191..5226192 [GRCh38] Chr11:5247421..5247422 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+166T>A | single nucleotide variant | not provided [RCV003670289] | Chr11:5226411 [GRCh38] Chr11:5247641 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.237G>T (p.Leu79=) | single nucleotide variant | not provided [RCV003558215] | Chr11:5226655 [GRCh38] Chr11:5247885 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.282T>C (p.Cys94=) | single nucleotide variant | not provided [RCV003581021] | Chr11:5226610 [GRCh38] Chr11:5247840 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-24A>G | single nucleotide variant | not provided [RCV003558184] | Chr11:5225750 [GRCh38] Chr11:5246980 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-365T>C | single nucleotide variant | not provided [RCV003666821] | Chr11:5226091 [GRCh38] Chr11:5247321 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+138G>A | single nucleotide variant | not provided [RCV003672172] | Chr11:5226439 [GRCh38] Chr11:5247669 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-176T>G | single nucleotide variant | not provided [RCV003549919] | Chr11:5225902 [GRCh38] Chr11:5247132 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+221G>T | single nucleotide variant | not provided [RCV003669824] | Chr11:5226356 [GRCh38] Chr11:5247586 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+273A>G | single nucleotide variant | not provided [RCV003559952] | Chr11:5226304 [GRCh38] Chr11:5247534 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+371T>C | single nucleotide variant | not provided [RCV003666906] | Chr11:5226206 [GRCh38] Chr11:5247436 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-361G>A | single nucleotide variant | not provided [RCV003668793] | Chr11:5226087 [GRCh38] Chr11:5247317 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+284A>C | single nucleotide variant | not provided [RCV003664058] | Chr11:5226293 [GRCh38] Chr11:5247523 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-213A>C | single nucleotide variant | not provided [RCV003558111] | Chr11:5225939 [GRCh38] Chr11:5247169 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+273A>T | single nucleotide variant | not provided [RCV003702207] | Chr11:5226304 [GRCh38] Chr11:5247534 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-9C>T | single nucleotide variant | not provided [RCV003666875] | Chr11:5225735 [GRCh38] Chr11:5246965 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+204C>A | single nucleotide variant | not provided [RCV003559979] | Chr11:5226373 [GRCh38] Chr11:5247603 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+204del | deletion | not provided [RCV003668866] | Chr11:5226373 [GRCh38] Chr11:5247603 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.267G>A (p.Leu89=) | single nucleotide variant | not provided [RCV003697016] | Chr11:5226625 [GRCh38] Chr11:5247855 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+226T>A | single nucleotide variant | not provided [RCV003678941] | Chr11:5226351 [GRCh38] Chr11:5247581 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+372A>C | single nucleotide variant | not provided [RCV003678552] | Chr11:5226205 [GRCh38] Chr11:5247435 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-27C>G | single nucleotide variant | not provided [RCV003681016] | Chr11:5226826 [GRCh38] Chr11:5248056 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.171C>A (p.Gly57=) | single nucleotide variant | not provided [RCV003731339] | Chr11:5226721 [GRCh38] Chr11:5247951 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+270G>A | single nucleotide variant | not provided [RCV003679933] | Chr11:5226307 [GRCh38] Chr11:5247537 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-411G>T | single nucleotide variant | not provided [RCV003567101] | Chr11:5226137 [GRCh38] Chr11:5247367 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-28G>T | single nucleotide variant | not provided [RCV003711230] | Chr11:5226827 [GRCh38] Chr11:5248057 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+157T>C | single nucleotide variant | not provided [RCV003675228] | Chr11:5226420 [GRCh38] Chr11:5247650 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+173C>A | single nucleotide variant | not provided [RCV003675719] | Chr11:5226404 [GRCh38] Chr11:5247634 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-405del | deletion | not provided [RCV003555412] | Chr11:5226131 [GRCh38] Chr11:5247361 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-27T>C | single nucleotide variant | not provided [RCV003682943] | Chr11:5225753 [GRCh38] Chr11:5246983 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+111_315+112insATTCTA | insertion | not provided [RCV003542851] | Chr11:5226465..5226466 [GRCh38] Chr11:5247695..5247696 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+105C>G | single nucleotide variant | not provided [RCV003550423] | Chr11:5226472 [GRCh38] Chr11:5247702 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.348C>T (p.Ala116=) | single nucleotide variant | not provided [RCV003566595] | Chr11:5225694 [GRCh38] Chr11:5246924 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+269G>A | single nucleotide variant | not provided [RCV003682304] | Chr11:5226308 [GRCh38] Chr11:5247538 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-392G>A | single nucleotide variant | not provided [RCV003683505] | Chr11:5226118 [GRCh38] Chr11:5247348 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+174A>T | single nucleotide variant | not provided [RCV003711712] | Chr11:5226403 [GRCh38] Chr11:5247633 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+239C>T | single nucleotide variant | not provided [RCV003709729] | Chr11:5226338 [GRCh38] Chr11:5247568 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.147G>C (p.Leu49=) | single nucleotide variant | not provided [RCV003711719] | Chr11:5226745 [GRCh38] Chr11:5247975 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+406G>C | single nucleotide variant | not provided [RCV003710014] | Chr11:5226171 [GRCh38] Chr11:5247401 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+323C>T | single nucleotide variant | not provided [RCV003706184] | Chr11:5226254 [GRCh38] Chr11:5247484 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-33del | deletion | not provided [RCV003707498] | Chr11:5225759 [GRCh38] Chr11:5246989 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.198G>A (p.Lys66=) | single nucleotide variant | not provided [RCV003677066] | Chr11:5226694 [GRCh38] Chr11:5247924 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+347T>C | single nucleotide variant | not provided [RCV003685119] | Chr11:5226230 [GRCh38] Chr11:5247460 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-62A>T | single nucleotide variant | not provided [RCV003685147] | Chr11:5226861 [GRCh38] Chr11:5248091 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+415T>C | single nucleotide variant | not provided [RCV003685337] | Chr11:5226162 [GRCh38] Chr11:5247392 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.265C>T (p.Leu89=) | single nucleotide variant | not provided [RCV003686127] | Chr11:5226627 [GRCh38] Chr11:5247857 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-376A>T | single nucleotide variant | not provided [RCV003551840] | Chr11:5226102 [GRCh38] Chr11:5247332 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+204_315+206del | deletion | not provided [RCV003719453] | Chr11:5226371..5226373 [GRCh38] Chr11:5247601..5247603 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.92+43A>C | single nucleotide variant | not provided [RCV003557105] | Chr11:5226887 [GRCh38] Chr11:5248117 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+333T>A | single nucleotide variant | not provided [RCV003552274] | Chr11:5226244 [GRCh38] Chr11:5247474 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-9C>G | single nucleotide variant | not provided [RCV003677660] | Chr11:5226808 [GRCh38] Chr11:5248038 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+96A>G | single nucleotide variant | not provided [RCV003721409] | Chr11:5226481 [GRCh38] Chr11:5247711 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+90G>T | single nucleotide variant | not provided [RCV003719431] | Chr11:5226487 [GRCh38] Chr11:5247717 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-346A>C | single nucleotide variant | not provided [RCV003677863] | Chr11:5226072 [GRCh38] Chr11:5247302 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-259A>G | single nucleotide variant | not provided [RCV003871898] | Chr11:5225985 [GRCh38] Chr11:5247215 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-72G>A | single nucleotide variant | not provided [RCV003681770] | Chr11:5225798 [GRCh38] Chr11:5247028 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.308A>T (p.Asn103Ile) | single nucleotide variant | not provided [RCV003736488] | Chr11:5226584 [GRCh38] Chr11:5247814 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-128G>A | single nucleotide variant | not provided [RCV003704609] | Chr11:5225854 [GRCh38] Chr11:5247084 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-269C>A | single nucleotide variant | not provided [RCV003565861] | Chr11:5225995 [GRCh38] Chr11:5247225 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+109C>G | single nucleotide variant | not provided [RCV003683729] | Chr11:5226468 [GRCh38] Chr11:5247698 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+107G>A | single nucleotide variant | not provided [RCV003684653] | Chr11:5226470 [GRCh38] Chr11:5247700 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+163C>T | single nucleotide variant | not provided [RCV003684803] | Chr11:5226414 [GRCh38] Chr11:5247644 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+144T>G | single nucleotide variant | not provided [RCV003711417] | Chr11:5226433 [GRCh38] Chr11:5247663 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+409A>G | single nucleotide variant | not provided [RCV003711451] | Chr11:5226168 [GRCh38] Chr11:5247398 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+375C>T | single nucleotide variant | not provided [RCV003562126] | Chr11:5226202 [GRCh38] Chr11:5247432 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-36C>T | single nucleotide variant | not provided [RCV003685735] | Chr11:5226835 [GRCh38] Chr11:5248065 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+124G>C | single nucleotide variant | not provided [RCV003678572] | Chr11:5226453 [GRCh38] Chr11:5247683 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+169A>C | single nucleotide variant | not provided [RCV003680454] | Chr11:5226408 [GRCh38] Chr11:5247638 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.323G>A (p.Gly108Asp) | single nucleotide variant | not provided [RCV003557551] | Chr11:5225719 [GRCh38] Chr11:5246949 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.316-412A>G | single nucleotide variant | not provided [RCV003818512] | Chr11:5226138 [GRCh38] Chr11:5247368 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+19T>G | single nucleotide variant | not provided [RCV003563737] | Chr11:5226558 [GRCh38] Chr11:5247788 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-357T>G | single nucleotide variant | not provided [RCV003710245] | Chr11:5226083 [GRCh38] Chr11:5247313 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-9dup | duplication | not provided [RCV003681024] | Chr11:5226807..5226808 [GRCh38] Chr11:5248037..5248038 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+214C>T | single nucleotide variant | not provided [RCV003684380] | Chr11:5226363 [GRCh38] Chr11:5247593 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+105C>A | single nucleotide variant | not provided [RCV003707101] | Chr11:5226472 [GRCh38] Chr11:5247702 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-50G>C | single nucleotide variant | not provided [RCV003685613] | Chr11:5225776 [GRCh38] Chr11:5247006 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-155T>G | single nucleotide variant | not provided [RCV003678204] | Chr11:5225881 [GRCh38] Chr11:5247111 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+110G>C | single nucleotide variant | not provided [RCV003542852] | Chr11:5226467 [GRCh38] Chr11:5247697 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-55G>C | single nucleotide variant | not provided [RCV003707785] | Chr11:5226854 [GRCh38] Chr11:5248084 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-117C>T | single nucleotide variant | not provided [RCV003678735] | Chr11:5225843 [GRCh38] Chr11:5247073 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+264C>T | single nucleotide variant | not provided [RCV003678165] | Chr11:5226313 [GRCh38] Chr11:5247543 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-118G>T | single nucleotide variant | not provided [RCV003678822] | Chr11:5225844 [GRCh38] Chr11:5247074 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.93-41A>G | single nucleotide variant | not provided [RCV003674803] | Chr11:5226840 [GRCh38] Chr11:5248070 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+23G>A | single nucleotide variant | not provided [RCV003706681] | Chr11:5226554 [GRCh38] Chr11:5247784 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-142A>G | single nucleotide variant | not provided [RCV003678494] | Chr11:5225868 [GRCh38] Chr11:5247098 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+325T>A | single nucleotide variant | not provided [RCV003678560] | Chr11:5226252 [GRCh38] Chr11:5247482 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-127C>T | single nucleotide variant | not provided [RCV003676441] | Chr11:5225853 [GRCh38] Chr11:5247083 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.339T>C (p.Cys113=) | single nucleotide variant | not provided [RCV003709744] | Chr11:5225703 [GRCh38] Chr11:5246933 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+199_315+201del | deletion | not provided [RCV003565305] | Chr11:5226376..5226378 [GRCh38] Chr11:5247606..5247608 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+140A>T | single nucleotide variant | not provided [RCV003708948] | Chr11:5226437 [GRCh38] Chr11:5247667 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.19del (p.Glu7fs) | deletion | Hemoglobinopathy [RCV003994949] | Chr11:5227003 [GRCh38] Chr11:5248233 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.4(HBB):c.-124A>T | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV004527281] | Chr11:5227145 [GRCh38] Chr11:5248375 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NC_000011.10:g.5227091C>T | single nucleotide variant | HBB-related disorder [RCV004545571] | Chr11:5227091 [GRCh38] Chr11:5248321 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.-6G>C | single nucleotide variant | not specified [RCV004526450] | Chr11:5227027 [GRCh38] Chr11:5248257 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.412G>A (p.Val138Met) | single nucleotide variant | not provided [RCV003993251] | Chr11:5225630 [GRCh38] Chr11:5246860 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.385G>A (p.Ala129Thr) | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV004547426] | Chr11:5225657 [GRCh38] Chr11:5246887 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.327C>G (p.Asn109Lys) | single nucleotide variant | Dominant beta-thalassemia [RCV005051468]|beta Thalassemia [RCV004690867]|not provided [RCV005000574] | Chr11:5225715 [GRCh38] Chr11:5246945 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NC_000011.9:g.(?_5246486)_(5247105_?)del | deletion | not provided [RCV004580321] | Chr11:5246486..5247105 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.9:g.(?_5246696)_(5248301_?)del | deletion | not provided [RCV004580319] | Chr11:5246696..5248301 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.9:g.(?_5247800)_(5255213_?)del | deletion | not provided [RCV004580320] | Chr11:5247800..5255213 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.43C>G (p.Leu15Val) | single nucleotide variant | not specified [RCV004691040] | Chr11:5226979 [GRCh38] Chr11:5248209 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.400G>T (p.Val134Leu) | single nucleotide variant | Dominant beta-thalassemia [RCV005051456]|not specified [RCV004586247] | Chr11:5225642 [GRCh38] Chr11:5246872 [GRCh37] Chr11:11p15.4 |
uncertain significance |
Single allele | deletion | Beta-thalassemia HBB/LCRB [RCV004595718] | Chr11:5223699..5250078 [GRCh38] Chr11:11p15.4 |
pathogenic |
Single allele | deletion | Beta-thalassemia HBB/LCRB [RCV004595719] | Chr11:5225911..5235201 [GRCh38] Chr11:11p15.4 |
pathogenic |
Single allele | deletion | Beta-thalassemia HBB/LCRB [RCV004595720] | Chr11:5225911..5243699 [GRCh38] Chr11:11p15.4 |
pathogenic |
Single allele | deletion | Beta-thalassemia HBB/LCRB [RCV004595722] | Chr11:5223780..5304186 [GRCh38] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.*1G>A | single nucleotide variant | not specified [RCV004690537] | Chr11:5225597 [GRCh38] Chr11:5246827 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.161C>T (p.Ala54Val) | single nucleotide variant | Beta-thalassemia HBB/LCRB [RCV004689558]|not specified [RCV005419771] | Chr11:5226731 [GRCh38] Chr11:5247961 [GRCh37] Chr11:11p15.4 |
pathogenic|uncertain significance |
NM_000518.5(HBB):c.209G>C (p.Gly70Ala) | single nucleotide variant | not specified [RCV004766491] | Chr11:5226683 [GRCh38] Chr11:5247913 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.-1C>T | single nucleotide variant | not provided [RCV004770836] | Chr11:5227022 [GRCh38] Chr11:5248252 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.85C>G (p.Leu29Val) | single nucleotide variant | not specified [RCV004703017] | Chr11:5226937 [GRCh38] Chr11:5248167 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*129T>C | single nucleotide variant | Dominant beta-thalassemia [RCV005050234] | Chr11:5225469 [GRCh38] Chr11:5246699 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*15T>C | single nucleotide variant | Dominant beta-thalassemia [RCV005050235] | Chr11:5225583 [GRCh38] Chr11:5246813 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.-175G>A | single nucleotide variant | Dominant beta-thalassemia [RCV005050242] | Chr11:5227196 [GRCh38] Chr11:5248426 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.4(HBB):c.-64G>A | single nucleotide variant | not provided [RCV004997912] | Chr11:5227085 [GRCh38] Chr11:5248315 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.388G>A (p.Ala130Thr) | single nucleotide variant | Dominant beta-thalassemia [RCV005050237] | Chr11:5225654 [GRCh38] Chr11:5246884 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.160G>A (p.Ala54Thr) | single nucleotide variant | Dominant beta-thalassemia [RCV005050240] | Chr11:5226732 [GRCh38] Chr11:5247962 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.15T>A (p.Thr5=) | single nucleotide variant | not provided [RCV004997909] | Chr11:5227007 [GRCh38] Chr11:5248237 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.4(HBB):c.-133_-132insCCACAGCCTAG | insertion | not provided [RCV004997915] | Chr11:5227153..5227154 [GRCh38] Chr11:5248383..5248384 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.4(HBB):c.-140C>A | single nucleotide variant | not provided [RCV004997916] | Chr11:5227161 [GRCh38] Chr11:5248391 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.126_129dup (p.Glu44delinsLeuTer) | duplication | not provided [RCV004997907] | Chr11:5226762..5226763 [GRCh38] Chr11:5247992..5247993 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.332T>A (p.Leu111Gln) | single nucleotide variant | not provided [RCV004997910] | Chr11:5225710 [GRCh38] Chr11:5246940 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.130G>A (p.Glu44Lys) | single nucleotide variant | not provided [RCV004997908] | Chr11:5226762 [GRCh38] Chr11:5247992 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.363dup (p.Glu122fs) | duplication | not provided [RCV004997911] | Chr11:5225678..5225679 [GRCh38] Chr11:5246908..5246909 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.*131G>A | single nucleotide variant | not provided [RCV004997913] | Chr11:5225467 [GRCh38] Chr11:5246697 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-133A>T | single nucleotide variant | not provided [RCV004997917] | Chr11:5225859 [GRCh38] Chr11:5247089 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-97T>G | single nucleotide variant | not provided [RCV004997914] | Chr11:5225823 [GRCh38] Chr11:5247053 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.*97G>A | single nucleotide variant | not provided [RCV004997918] | Chr11:5225501 [GRCh38] Chr11:5246731 [GRCh37] Chr11:11p15.4 |
uncertain significance |
GRCh37/hg19 11p15.4(chr11:5183175-5262245)x1 | copy number loss | not provided [RCV004819836] | Chr11:5183175..5262245 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-193A>C | single nucleotide variant | not provided [RCV005122800] | Chr11:5225919 [GRCh38] Chr11:5247149 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+370A>G | single nucleotide variant | not provided [RCV005117419] | Chr11:5226207 [GRCh38] Chr11:5247437 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.186G>A (p.Lys62=) | single nucleotide variant | not provided [RCV005124034] | Chr11:5226706 [GRCh38] Chr11:5247936 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+13G>C | single nucleotide variant | not provided [RCV005120976] | Chr11:5226564 [GRCh38] Chr11:5247794 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-180C>A | single nucleotide variant | not provided [RCV005117460]|not specified [RCV005241101] | Chr11:5225906 [GRCh38] Chr11:5247136 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+297C>T | single nucleotide variant | not provided [RCV005120216] | Chr11:5226280 [GRCh38] Chr11:5247510 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+328T>C | single nucleotide variant | not provided [RCV005111263] | Chr11:5226249 [GRCh38] Chr11:5247479 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.207C>A (p.Leu69=) | single nucleotide variant | not provided [RCV005086875]|not specified [RCV005241094] | Chr11:5226685 [GRCh38] Chr11:5247915 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.10:g.5168748_5240702del | deletion | Beta-thalassemia HBB/LCRB [RCV005088640] | Chr11:5168748..5240702 [GRCh38] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.14C>A (p.Thr5Asn) | single nucleotide variant | not specified [RCV005087727] | Chr11:5227008 [GRCh38] Chr11:5248238 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-97T>C | single nucleotide variant | not provided [RCV005114571] | Chr11:5225823 [GRCh38] Chr11:5247053 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-136T>C | single nucleotide variant | not provided [RCV005117668] | Chr11:5225862 [GRCh38] Chr11:5247092 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+203T>G | single nucleotide variant | not provided [RCV005111144] | Chr11:5226374 [GRCh38] Chr11:5247604 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.-155C>T | single nucleotide variant | not specified [RCV005239794] | Chr11:5227176 [GRCh38] Chr11:5248406 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.348_349delinsG (p.His117fs) | indel | beta Thalassemia [RCV005240005] | Chr11:5225693..5225694 [GRCh38] Chr11:5246923..5246924 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.-19G>C | single nucleotide variant | not specified [RCV005238377] | Chr11:5227040 [GRCh38] Chr11:5248270 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.419A>T (p.Asn140Ile) | single nucleotide variant | not provided [RCV005233122] | Chr11:5225623 [GRCh38] Chr11:5246853 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NC_000011.10:g.5225255_5225875del | deletion | beta Thalassemia [RCV005239771] | Chr11:5225255..5225875 [GRCh38] Chr11:5246485..5247105 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.9:g.(?_5246693)_(5248302_?)del | deletion | beta Thalassemia [RCV005241174] | Chr11:5246693..5248302 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.294C>A (p.His98Gln) | single nucleotide variant | not provided [RCV005234182] | Chr11:5226598 [GRCh38] Chr11:5247828 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.315+1_315+2insACGTTCTC | insertion | not provided [RCV005234183] | Chr11:5226575..5226576 [GRCh38] Chr11:5247805..5247806 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.20_21del (p.Glu7fs) | deletion | not provided [RCV005234381] | Chr11:5227001..5227002 [GRCh38] Chr11:5248231..5248232 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.92G>T (p.Arg31Met) | single nucleotide variant | not provided [RCV005234622] | Chr11:5226930 [GRCh38] Chr11:5248160 [GRCh37] Chr11:11p15.4 |
likely pathogenic |
NM_000518.5(HBB):c.82_83delinsTT (p.Ala28Phe) | indel | not provided [RCV005234733] | Chr11:5226939..5226940 [GRCh38] Chr11:5248169..5248170 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.316-372A>G | single nucleotide variant | not provided [RCV005173730] | Chr11:5226098 [GRCh38] Chr11:5247328 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.316-425A>C | single nucleotide variant | not provided [RCV005078089] | Chr11:5226151 [GRCh38] Chr11:5247381 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+71G>C | single nucleotide variant | not provided [RCV005183276] | Chr11:5226506 [GRCh38] Chr11:5247736 [GRCh37] Chr11:11p15.4 |
likely benign |
NC_000011.10:g.5226995_5227540delinsTGAAAACTCTACCTCA | indel | not provided [RCV005124169] | Chr11:5226995..5227540 [GRCh38] Chr11:5248225..5248770 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.315+354_315+357del | deletion | not provided [RCV005150253] | Chr11:5226220..5226223 [GRCh38] Chr11:5247450..5247453 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.315+407A>G | single nucleotide variant | not provided [RCV005151347] | Chr11:5226170 [GRCh38] Chr11:5247400 [GRCh37] Chr11:11p15.4 |
likely benign |
NM_000518.5(HBB):c.105_106insCTAC (p.Tyr36fs) | insertion | Beta-thalassemia HBB/LCRB [RCV005368257] | Chr11:5226786..5226787 [GRCh38] Chr11:5248016..5248017 [GRCh37] Chr11:11p15.4 |
pathogenic |
NM_000518.5(HBB):c.299_315dup (p.Leu106fs) | duplication | Beta-thalassemia HBB/LCRB [RCV005368259] | Chr11:5226576..5226577 [GRCh38] Chr11:5247806..5247807 [GRCh37] Chr11:11p15.4 |
pathogenic |
NC_000011.10:g.5225284C>T | single nucleotide variant | Erythrocytosis, familial, 6 [RCV005361680]|Thalassemia [RCV001838687] | Chr11:5225284 [GRCh38] Chr11:5246514 [GRCh37] Chr11:11p15.4 |
risk factor|uncertain significance |
NM_000518.5(HBB):c.347C>T (p.Ala116Val) | single nucleotide variant | not specified [RCV005418921] | Chr11:5225695 [GRCh38] Chr11:5246925 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.211G>C (p.Ala71Pro) | single nucleotide variant | not specified [RCV005408487] | Chr11:5226681 [GRCh38] Chr11:5247911 [GRCh37] Chr11:11p15.4 |
uncertain significance |
NM_000518.5(HBB):c.235C>G (p.Leu79Val) | single nucleotide variant | not specified [RCV005409118] | Chr11:5226657 [GRCh38] Chr11:5247887 [GRCh37] Chr11:11p15.4 |
uncertain significance |
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. |
The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
D11S1382 |
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GDB:177071 |
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GDB:177422 |
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GDB:177671 |
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GDB:177704 |
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GDB:178694 |
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GDB:181599 |
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GDB:196974 |
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GDB:269987 |
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GDB:599270 |
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GDB:632696 |
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PMC102046P2 |
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PMC102168P1 |
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PMC104188P1 |
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PMC110379P1 |
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PMC110716P1 |
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PMC110756P1 |
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PMC111966P1 |
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PMC113011P1 |
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PMC114582P1 |
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PMC115301P1 |
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PMC120089P1 |
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PMC126094P1 |
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PMC133721P1 |
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PMC133732P7 |
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PMC133948P1 |
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PMC139788P3 |
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PMC149569P1 |
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PMC150227P2 |
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PMC153763P1 |
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PMC24545P1 |
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PMC310725P2 |
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PMC316536P5 |
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PMC86017P3 |
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PMC86017P4 |
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PMC86017P6 |
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PMC86017P7 |
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PMC86936P4 |
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PMC87307P1 |
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PMC87731P1 |
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PMC88635P1 |
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PMC99844P2 |
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ECD02553 |
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ECD04215 |
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ECD05616 |
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ECD16422 |
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STS-L48931 |
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REN97344 |
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REN97345 |
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REN97346 |
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REN97347 |
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REN97348 |
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REN97349 |
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REN97350 |
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REN97351 |
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REN97352 |
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REN97353 |
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REN97354 |
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REN97355 |
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REN97356 |
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REN97357 |
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REN97358 |
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REN97359 |
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REN97360 |
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REN97385 |
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stSG610823 |
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stSG610824 |
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RH41842 |
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RH69634 |
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D11F194S1E |
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HBB |
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Hbb-b1 |
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HBB |
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adipose tissue
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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entire extraembryonic component
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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1204 | 2345 | 2788 | 2228 | 4650 | 1703 | 2147 | 3 | 608 | 1445 | 448 | 2029 | 6677 | 5957 | 5 | 3640 | 801 | 1643 | 1435 | 164 | 1 |
RefSeq Transcripts | NG_000007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NG_059281 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
NM_000518 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | A01592 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC104389 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF007546 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF059180 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF083883 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF083884 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF104901 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF105973 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF117710 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF181832 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF181989 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF305716 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF305829 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF319477 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF319478 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF319479 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF348448 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF349114 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF358870 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF527577 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AF540397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AH001475 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ871593 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AJ877913 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK311825 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY013299 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY013300 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY013301 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY013302 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY027509 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY027800 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY128650 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY128651 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY136510 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY136511 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY163866 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY260740 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY261679 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY264346 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY310318 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY341055 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY341056 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY356351 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY509193 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY605051 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY605052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY738615 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY744274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AY998983 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC007075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BU661647 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR536530 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CR541913 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ026227 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ029041 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ074763 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ074764 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ115318 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ118155 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126272 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126273 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126278 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126279 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126280 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126281 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126282 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126283 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126285 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126286 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126288 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126289 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126290 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126291 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126292 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126293 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126294 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126295 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126296 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126297 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126298 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126299 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126300 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126301 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126302 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126303 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126304 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126305 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126306 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126307 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126308 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126309 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126310 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126311 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126312 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126313 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126314 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126315 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126316 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126317 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126318 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126319 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126320 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126321 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126322 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126323 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126324 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ126325 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ150585 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ192018 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ272514 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ655983 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DQ659148 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF150856 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EF450778 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU296929 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU600237 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU605696 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU605697 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU694432 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760912 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760913 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760914 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760915 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760916 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760917 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760918 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760919 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760920 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760921 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760922 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760923 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760924 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760925 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760926 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760927 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760928 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760929 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760930 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760931 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760932 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760933 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760934 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760935 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760936 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760937 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760938 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760939 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760940 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760941 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760942 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760943 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760944 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760945 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760946 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760949 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760951 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760952 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760953 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760954 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760955 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760956 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760957 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760958 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760959 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU760960 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU761578 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
EU863596 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FJ876835 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
FJ876836 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GN041478 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GN045279 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GN367221 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GQ370762 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GU324922 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HQ174213 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HQ625492 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JB252422 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JN613430 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JX440362 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JX645479 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
JX645480 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
K01899 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KJ480748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KM504957 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP297861 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309816 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309817 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309818 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309819 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309820 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309821 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309822 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309823 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309824 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309825 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309826 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309827 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309828 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309829 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309830 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309831 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309832 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309833 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KP309834 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KR028331 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KU350152 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KY940285 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L26462 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L26463 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L26464 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L26465 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L26466 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L26467 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L26468 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L26469 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L26470 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L26471 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L26472 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L26473 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L26474 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L26475 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L26476 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L26477 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L26478 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L48213 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L48214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L48215 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L48216 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L48217 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L48218 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L48219 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L48220 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L48221 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L48931 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
L48932 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC072891 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC121775 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC158349 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC632683 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC632684 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC632685 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC632687 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC632688 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC632690 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC632692 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC632693 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC632695 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC632696 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC632700 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC727508 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC727509 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC727510 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC727511 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC727512 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC727513 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC727514 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC727515 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC727516 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC727517 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC727518 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC727519 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC727520 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC727521 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
LC727522 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M11428 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M14574 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M25079 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M25113 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M25660 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
M36640 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MF150546 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MG657341 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MG675219 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MH133464 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MH133465 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MH559331 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MH580289 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MH708880 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK050958 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK050959 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475663 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475664 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475665 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475666 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475667 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475668 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475669 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475670 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475671 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475672 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475673 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475674 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475675 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475676 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475677 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475678 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475679 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475680 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475681 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475682 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475683 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475684 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475685 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475686 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475687 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475688 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475689 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475690 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475691 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475692 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475693 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475694 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475695 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475696 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475697 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475698 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475699 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475700 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475701 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475702 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475703 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475704 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475705 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475706 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475707 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475708 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475709 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475710 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475711 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475712 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475713 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475714 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475715 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475716 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475717 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475718 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475719 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475720 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475721 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475722 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475723 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475724 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475725 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475726 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475727 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475728 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475729 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475730 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475731 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475732 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475733 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475734 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475735 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475736 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475737 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475738 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475739 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475740 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475741 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475742 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475743 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475744 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475745 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475746 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475747 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475748 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475749 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475750 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475751 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475752 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475753 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475754 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475755 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475756 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475757 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475758 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475759 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475760 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475761 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475762 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475763 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475764 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475765 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475766 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475767 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475768 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475769 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475770 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475771 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475772 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475773 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475774 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475775 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475776 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475777 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475778 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475779 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475780 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475781 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475782 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475783 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475784 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475785 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475786 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475787 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475788 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475789 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475790 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475791 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475792 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475793 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475794 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475795 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475796 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475797 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475798 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475799 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475800 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475801 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475802 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475803 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475804 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475805 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475806 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475807 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475808 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475809 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475810 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475811 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475812 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475813 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475814 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475815 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475816 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475817 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475818 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475819 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475820 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475821 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475822 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475823 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475824 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475825 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475826 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475827 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475828 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475829 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475830 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475831 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475832 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475833 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475834 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475835 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475836 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475837 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475838 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475839 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475841 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475842 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475843 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475844 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475845 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475846 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475847 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475848 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475849 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475850 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475851 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475852 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475853 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475854 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475855 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475856 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475857 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475858 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475859 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475860 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475861 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475862 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475863 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475864 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475865 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475866 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475867 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475868 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475869 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475870 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475871 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475872 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475873 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475874 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475875 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475876 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475877 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475878 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475879 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475880 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475881 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475882 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475883 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475884 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475885 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475886 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475887 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475888 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475889 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475890 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475891 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475892 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475893 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475894 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475895 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475896 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475897 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475898 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475899 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475900 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475901 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475902 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475903 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475904 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475905 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475906 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475907 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475908 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475909 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475910 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475911 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475912 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475913 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475914 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475915 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475916 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475917 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475918 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475919 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475920 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475921 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475922 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475923 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475924 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475925 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475926 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475927 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475928 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475929 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475930 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475931 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475932 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475933 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475934 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475935 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475936 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475937 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475938 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475939 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475940 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475941 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475942 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475943 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475944 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475945 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475946 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475947 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475948 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475949 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475950 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475951 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475952 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475953 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475954 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475955 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475956 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475957 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475958 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475959 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475960 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475961 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475962 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475963 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475964 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475965 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475966 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475967 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475968 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475969 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475970 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475971 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475972 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475973 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475974 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475975 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475976 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475977 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475978 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475979 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475980 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475981 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475982 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475983 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475984 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475985 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475986 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475987 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475988 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475989 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475990 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475991 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475992 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475993 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475994 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475995 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475996 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475997 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475998 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK475999 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476000 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476001 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476002 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476003 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476004 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476005 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476007 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476008 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476009 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476010 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476011 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476012 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476013 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476014 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476015 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476016 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476017 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476018 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476019 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476020 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476022 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476023 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476024 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476025 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476026 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476027 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476028 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476029 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476030 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476031 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476032 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476033 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476034 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476035 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476036 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476037 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476038 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476039 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476040 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476041 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476042 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476043 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476044 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476045 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476046 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476047 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476048 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476049 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476050 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476051 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476052 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476053 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476054 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476055 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476056 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476057 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476058 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476059 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476060 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476061 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476062 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476063 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476064 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476065 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476066 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476067 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476068 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476069 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476070 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476071 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476072 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476073 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476074 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476075 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476076 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476077 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476078 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476079 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476080 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476082 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476084 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476085 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476086 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476087 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476088 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476089 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476090 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476091 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476092 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476093 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476094 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476095 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476096 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476097 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476098 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476099 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476100 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476101 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476102 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476103 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476104 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476105 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476106 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476107 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476108 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476109 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476110 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476111 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476112 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476113 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476114 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476115 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476116 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476117 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476118 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476119 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476120 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476121 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476122 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476123 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476124 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476125 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476126 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476127 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476128 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476129 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476130 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476131 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476132 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476133 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476134 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476135 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476136 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476137 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476138 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476139 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476140 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476141 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476142 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476143 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476144 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476145 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476146 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476147 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476148 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476149 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476150 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476151 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476152 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476153 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476154 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476155 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476156 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476157 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476158 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476159 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476161 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476162 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476163 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476164 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476165 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476166 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476167 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476168 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476169 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476170 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476171 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476172 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476173 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476174 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476175 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476176 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476177 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476178 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476179 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476180 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476181 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476182 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476183 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476184 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476185 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476186 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476187 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476188 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476189 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476190 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476191 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476192 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476193 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476194 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476195 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476196 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476197 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476198 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476199 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476200 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476201 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476202 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476203 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476204 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476205 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476206 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476207 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476208 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476209 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476210 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476211 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476212 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476213 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476215 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476216 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476217 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476218 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476219 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476220 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476221 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476222 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476223 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476224 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476225 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476226 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476227 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476228 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476229 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476230 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476231 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476232 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476233 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476234 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476235 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476236 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476237 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476238 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476239 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476240 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476241 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476242 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476243 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476244 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476245 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476246 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476247 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476248 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476249 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476250 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476251 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476252 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476253 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476254 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476255 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476256 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476257 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476258 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476259 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476260 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476261 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476262 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476263 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476264 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476265 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476266 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476268 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476269 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476270 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476272 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476273 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476275 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476276 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476277 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476278 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476279 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476280 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476281 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476282 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476283 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476284 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476285 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476286 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476287 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476288 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476289 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476290 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476291 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476292 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476293 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476294 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476295 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476296 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476297 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476298 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476299 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476300 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476301 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476302 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476303 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476304 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476305 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476306 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476307 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476308 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476309 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476310 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476311 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476312 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476313 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476314 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476315 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476316 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476317 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476318 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476319 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476320 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476321 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476322 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476323 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476324 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476325 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476326 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476327 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476328 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476329 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476330 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476331 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476332 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476333 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476334 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476335 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476336 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476337 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476338 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476339 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476340 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476341 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476342 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476343 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476344 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476345 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476346 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476347 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476348 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476349 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476350 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476351 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476352 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476353 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476354 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476355 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476356 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476357 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476358 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476359 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476360 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476361 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476362 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476363 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476364 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476365 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476366 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476367 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476368 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476369 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476370 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476371 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476372 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476373 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476374 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476375 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476376 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476377 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476378 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476379 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476380 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476381 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476382 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476383 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476384 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476385 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476386 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476387 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476388 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476389 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476390 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476391 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476392 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476393 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476394 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476395 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476396 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476397 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476398 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476399 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476400 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476402 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476403 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476404 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476405 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476406 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476407 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476408 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476409 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476410 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476411 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476412 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476413 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476414 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476415 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476416 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476417 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476418 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476419 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476420 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476421 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476422 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476423 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476424 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476425 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476426 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476427 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476428 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476429 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476430 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476431 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476432 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476433 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476434 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476435 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476436 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476437 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476438 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476439 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476440 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476441 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476442 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476444 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476445 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476446 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476447 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476448 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476449 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476450 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476451 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476452 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476453 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476454 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476455 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476456 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476457 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476458 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476459 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476460 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476461 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476462 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476463 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476464 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476465 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476466 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476467 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476468 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476469 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476470 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476471 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476472 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476473 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476474 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476475 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476476 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476477 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476478 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476479 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476480 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476481 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476482 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476483 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476484 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476485 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476486 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476487 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476488 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476489 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476490 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476491 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476492 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476493 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476494 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476495 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476496 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476497 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476498 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476499 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476500 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476501 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476502 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476503 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK476504 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK779006 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK910907 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MK910908 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW038836 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW038837 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW038838 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW038839 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MW038840 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ485452 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ485453 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ485454 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ485455 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ485456 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ485457 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
MZ485458 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584430 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584432 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584433 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584436 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584437 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584438 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584441 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584442 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584443 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584444 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584445 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584446 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584447 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584449 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584450 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584451 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584452 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584453 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584454 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584456 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584457 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584459 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584460 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584461 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
ON584462 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
OR521158 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PV131716 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
PV131717 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S41500 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S41503 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S41504 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S76156 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
S82767 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U01317 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U20223 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
V00497 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
V00498 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
V00499 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
V00500 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
Ensembl Acc Id: | ENST00000335295 ⟹ ENSP00000333994 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000380315 ⟹ ENSP00000369671 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000475226 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000485743 ⟹ ENSP00000496200 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000633227 ⟹ ENSP00000488004 | ||||||||
Type: | CODING | ||||||||
Position: |
|
Ensembl Acc Id: | ENST00000647020 ⟹ ENSP00000494175 | ||||||||
Type: | CODING | ||||||||
Position: |
|
RefSeq Acc Id: | NM_000518 ⟹ NP_000509 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
|
||||||||||||||||||||||||||||
Sequence: |
Protein RefSeqs | NP_000509 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAA16334 | (Get FASTA) | NCBI Sequence Viewer |
AAA16335 | (Get FASTA) | NCBI Sequence Viewer | |
AAA21100 | (Get FASTA) | NCBI Sequence Viewer | |
AAA21101 | (Get FASTA) | NCBI Sequence Viewer | |
AAA21102 | (Get FASTA) | NCBI Sequence Viewer | |
AAA21103 | (Get FASTA) | NCBI Sequence Viewer | |
AAA21104 | (Get FASTA) | NCBI Sequence Viewer | |
AAA21105 | (Get FASTA) | NCBI Sequence Viewer | |
AAA21106 | (Get FASTA) | NCBI Sequence Viewer | |
AAA21107 | (Get FASTA) | NCBI Sequence Viewer | |
AAA21108 | (Get FASTA) | NCBI Sequence Viewer | |
AAA21109 | (Get FASTA) | NCBI Sequence Viewer | |
AAA21110 | (Get FASTA) | NCBI Sequence Viewer | |
AAA21111 | (Get FASTA) | NCBI Sequence Viewer | |
AAA21112 | (Get FASTA) | NCBI Sequence Viewer | |
AAA21113 | (Get FASTA) | NCBI Sequence Viewer | |
AAA21114 | (Get FASTA) | NCBI Sequence Viewer | |
AAA21115 | (Get FASTA) | NCBI Sequence Viewer | |
AAA21116 | (Get FASTA) | NCBI Sequence Viewer | |
AAA35597 | (Get FASTA) | NCBI Sequence Viewer | |
AAA35952 | (Get FASTA) | NCBI Sequence Viewer | |
AAA35966 | (Get FASTA) | NCBI Sequence Viewer | |
AAA52633 | (Get FASTA) | NCBI Sequence Viewer | |
AAA52634 | (Get FASTA) | NCBI Sequence Viewer | |
AAA52635 | (Get FASTA) | NCBI Sequence Viewer | |
AAA53153 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88052 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88053 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88054 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88055 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88056 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88057 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88058 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88059 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88060 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88061 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88062 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88063 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88064 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88065 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88066 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88067 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88068 | (Get FASTA) | NCBI Sequence Viewer | |
AAA88069 | (Get FASTA) | NCBI Sequence Viewer | |
AAA99223 | (Get FASTA) | NCBI Sequence Viewer | |
AAA99224 | (Get FASTA) | NCBI Sequence Viewer | |
AAB60348 | (Get FASTA) | NCBI Sequence Viewer | |
AAB62944 | (Get FASTA) | NCBI Sequence Viewer | |
AAC97372 | (Get FASTA) | NCBI Sequence Viewer | |
AAC97959 | (Get FASTA) | NCBI Sequence Viewer | |
AAD14211 | (Get FASTA) | NCBI Sequence Viewer | |
AAD14420 | (Get FASTA) | NCBI Sequence Viewer | |
AAD19696 | (Get FASTA) | NCBI Sequence Viewer | |
AAD30656 | (Get FASTA) | NCBI Sequence Viewer | |
AAD34034 | (Get FASTA) | NCBI Sequence Viewer | |
AAF00488 | (Get FASTA) | NCBI Sequence Viewer | |
AAF00489 | (Get FASTA) | NCBI Sequence Viewer | |
AAG28778 | (Get FASTA) | NCBI Sequence Viewer | |
AAG28779 | (Get FASTA) | NCBI Sequence Viewer | |
AAG46182 | (Get FASTA) | NCBI Sequence Viewer | |
AAG46183 | (Get FASTA) | NCBI Sequence Viewer | |
AAG46184 | (Get FASTA) | NCBI Sequence Viewer | |
AAG46185 | (Get FASTA) | NCBI Sequence Viewer | |
AAH07075 | (Get FASTA) | NCBI Sequence Viewer | |
AAK15811 | (Get FASTA) | NCBI Sequence Viewer | |
AAK20080 | (Get FASTA) | NCBI Sequence Viewer | |
AAK28064 | (Get FASTA) | NCBI Sequence Viewer | |
AAK28065 | (Get FASTA) | NCBI Sequence Viewer | |
AAK28066 | (Get FASTA) | NCBI Sequence Viewer | |
AAK29639 | (Get FASTA) | NCBI Sequence Viewer | |
AAK30154 | (Get FASTA) | NCBI Sequence Viewer | |
AAK39553 | (Get FASTA) | NCBI Sequence Viewer | |
AAL68978 | (Get FASTA) | NCBI Sequence Viewer | |
AAM92001 | (Get FASTA) | NCBI Sequence Viewer | |
AAN11320 | (Get FASTA) | NCBI Sequence Viewer | |
AAN11321 | (Get FASTA) | NCBI Sequence Viewer | |
AAN16468 | (Get FASTA) | NCBI Sequence Viewer | |
AAN84548 | (Get FASTA) | NCBI Sequence Viewer | |
AAP03091 | (Get FASTA) | NCBI Sequence Viewer | |
AAP21062 | (Get FASTA) | NCBI Sequence Viewer | |
AAP44006 | (Get FASTA) | NCBI Sequence Viewer | |
AAP74754 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ24847 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ24848 | (Get FASTA) | NCBI Sequence Viewer | |
AAQ63175 | (Get FASTA) | NCBI Sequence Viewer | |
AAR96398 | (Get FASTA) | NCBI Sequence Viewer | |
AAT36650 | (Get FASTA) | NCBI Sequence Viewer | |
AAT36651 | (Get FASTA) | NCBI Sequence Viewer | |
AAU85261 | (Get FASTA) | NCBI Sequence Viewer | |
AAW66689 | (Get FASTA) | NCBI Sequence Viewer | |
AAY15222 | (Get FASTA) | NCBI Sequence Viewer | |
AAY46275 | (Get FASTA) | NCBI Sequence Viewer | |
AAY51976 | (Get FASTA) | NCBI Sequence Viewer | |
AAY84735 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ22545 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ30391 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39745 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39746 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39747 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39748 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39749 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39750 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39751 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39752 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39753 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39754 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39755 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39756 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39757 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39758 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39759 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39760 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39761 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39762 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39763 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39764 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39765 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39766 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39767 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39768 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39769 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39770 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39771 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39772 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39773 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39774 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39775 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39776 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39777 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39778 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39779 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39780 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39781 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39782 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39783 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39784 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39785 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39786 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39787 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39788 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39789 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39790 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39791 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39792 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39793 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39794 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39795 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39796 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39797 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39798 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39799 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ39800 | (Get FASTA) | NCBI Sequence Viewer | |
AAZ81986 | (Get FASTA) | NCBI Sequence Viewer | |
ABA19233 | (Get FASTA) | NCBI Sequence Viewer | |
ABB82620 | (Get FASTA) | NCBI Sequence Viewer | |
ABG47031 | (Get FASTA) | NCBI Sequence Viewer | |
ABL84269 | (Get FASTA) | NCBI Sequence Viewer | |
ABO36678 | (Get FASTA) | NCBI Sequence Viewer | |
ABY26552 | (Get FASTA) | NCBI Sequence Viewer | |
ACC69180 | (Get FASTA) | NCBI Sequence Viewer | |
ACC69181 | (Get FASTA) | NCBI Sequence Viewer | |
ACC78290 | (Get FASTA) | NCBI Sequence Viewer | |
ACD39349 | (Get FASTA) | NCBI Sequence Viewer | |
ACE80932 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16747 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16748 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16749 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16750 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16751 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16752 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16753 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16754 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16755 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16756 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16757 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16758 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16759 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16760 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16761 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16762 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16763 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16764 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16765 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16766 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16767 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16768 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16769 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16770 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16771 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16772 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16773 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16774 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16775 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16776 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16777 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16778 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16779 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16780 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16781 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16782 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16783 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16784 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16785 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16786 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16787 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16788 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16789 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16790 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16791 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16792 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16793 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16794 | (Get FASTA) | NCBI Sequence Viewer | |
ACF16795 | (Get FASTA) | NCBI Sequence Viewer | |
ACF93730 | (Get FASTA) | NCBI Sequence Viewer | |
ACU56984 | (Get FASTA) | NCBI Sequence Viewer | |
ACZ67952 | (Get FASTA) | NCBI Sequence Viewer | |
ACZ67953 | (Get FASTA) | NCBI Sequence Viewer | |
ADV59922 | (Get FASTA) | NCBI Sequence Viewer | |
ADW79453 | (Get FASTA) | NCBI Sequence Viewer | |
AEQ28038 | (Get FASTA) | NCBI Sequence Viewer | |
AFR11469 | (Get FASTA) | NCBI Sequence Viewer | |
AFV63186 | (Get FASTA) | NCBI Sequence Viewer | |
AFV63187 | (Get FASTA) | NCBI Sequence Viewer | |
AJW81992 | (Get FASTA) | NCBI Sequence Viewer | |
AJW81993 | (Get FASTA) | NCBI Sequence Viewer | |
AJW81994 | (Get FASTA) | NCBI Sequence Viewer | |
AJW81995 | (Get FASTA) | NCBI Sequence Viewer | |
AJW81996 | (Get FASTA) | NCBI Sequence Viewer | |
AJW81997 | (Get FASTA) | NCBI Sequence Viewer | |
AJW81998 | (Get FASTA) | NCBI Sequence Viewer | |
AJW81999 | (Get FASTA) | NCBI Sequence Viewer | |
AJW82000 | (Get FASTA) | NCBI Sequence Viewer | |
AJW82001 | (Get FASTA) | NCBI Sequence Viewer | |
AJW82002 | (Get FASTA) | NCBI Sequence Viewer | |
AJW82003 | (Get FASTA) | NCBI Sequence Viewer | |
AJW82004 | (Get FASTA) | NCBI Sequence Viewer | |
AJW82005 | (Get FASTA) | NCBI Sequence Viewer | |
AJW82006 | (Get FASTA) | NCBI Sequence Viewer | |
AJW82007 | (Get FASTA) | NCBI Sequence Viewer | |
AJW82008 | (Get FASTA) | NCBI Sequence Viewer | |
AJW82009 | (Get FASTA) | NCBI Sequence Viewer | |
AJW82010 | (Get FASTA) | NCBI Sequence Viewer | |
AKQ62389 | (Get FASTA) | NCBI Sequence Viewer | |
ALU64019 | (Get FASTA) | NCBI Sequence Viewer | |
ALU64020 | (Get FASTA) | NCBI Sequence Viewer | |
AVR43714 | (Get FASTA) | NCBI Sequence Viewer | |
AWD38994 | (Get FASTA) | NCBI Sequence Viewer | |
AXR98451 | (Get FASTA) | NCBI Sequence Viewer | |
AYK39568 | (Get FASTA) | NCBI Sequence Viewer | |
AYV92025 | (Get FASTA) | NCBI Sequence Viewer | |
AYV92130 | (Get FASTA) | NCBI Sequence Viewer | |
AYV92131 | (Get FASTA) | NCBI Sequence Viewer | |
BAG34767 | (Get FASTA) | NCBI Sequence Viewer | |
BAS21756 | (Get FASTA) | NCBI Sequence Viewer | |
BAU68217 | (Get FASTA) | NCBI Sequence Viewer | |
BAV25189 | (Get FASTA) | NCBI Sequence Viewer | |
CAA00182 | (Get FASTA) | NCBI Sequence Viewer | |
CAA23756 | (Get FASTA) | NCBI Sequence Viewer | |
CAA23757 | (Get FASTA) | NCBI Sequence Viewer | |
CAA23758 | (Get FASTA) | NCBI Sequence Viewer | |
CAA23759 | (Get FASTA) | NCBI Sequence Viewer | |
CAG38767 | (Get FASTA) | NCBI Sequence Viewer | |
CAG46711 | (Get FASTA) | NCBI Sequence Viewer | |
CAI40296 | (Get FASTA) | NCBI Sequence Viewer | |
CAI47563 | (Get FASTA) | NCBI Sequence Viewer | |
CAX48890 | (Get FASTA) | NCBI Sequence Viewer | |
CAX48956 | (Get FASTA) | NCBI Sequence Viewer | |
CAY85982 | (Get FASTA) | NCBI Sequence Viewer | |
CDH61667 | (Get FASTA) | NCBI Sequence Viewer | |
EAW68806 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000333994 | ||
ENSP00000333994.3 | |||
ENSP00000494175.1 | |||
GenBank Protein | P68871 | (Get FASTA) | NCBI Sequence Viewer |
QBH68102 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68103 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68104 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68105 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68106 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68107 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68108 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68109 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68110 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68111 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68112 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68113 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68114 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68115 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68116 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68117 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68118 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68119 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68120 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68121 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68122 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68123 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68124 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68125 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68126 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68127 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68128 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68129 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68130 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68131 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68132 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68133 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68134 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68135 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68136 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68137 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68138 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68139 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68140 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68141 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68142 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68143 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68144 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68145 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68146 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68147 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68148 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68149 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68150 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68151 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68152 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68153 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68154 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68155 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68156 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68157 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68158 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68159 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68160 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68161 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68162 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68163 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68164 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68165 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68166 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68167 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68168 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68169 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68170 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68171 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68172 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68173 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68174 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68175 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68176 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68177 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68178 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68179 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68180 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68181 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68182 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68183 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68184 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68185 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68186 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68187 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68188 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68189 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68190 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68191 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68192 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68193 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68194 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68195 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68196 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68197 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68198 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68199 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68200 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68201 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68202 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68203 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68204 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68205 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68206 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68207 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68208 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68209 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68210 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68211 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68212 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68213 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68214 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68215 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68216 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68217 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68218 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68219 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68220 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68221 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68222 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68223 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68224 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68225 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68226 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68227 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68228 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68229 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68230 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68231 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68232 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68233 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68234 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68235 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68236 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68237 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68238 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68239 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68240 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68241 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68242 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68243 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68244 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68245 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68246 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68247 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68248 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68249 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68250 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68251 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68252 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68253 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68254 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68255 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68256 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68257 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68258 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68259 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68260 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68261 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68262 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68263 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68264 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68265 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68266 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68267 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68268 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68269 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68270 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68271 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68272 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68273 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68274 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68275 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68276 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68277 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68278 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68279 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68280 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68281 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68282 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68283 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68284 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68285 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68286 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68287 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68288 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68289 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68290 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68291 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68292 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68293 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68294 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68295 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68296 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68297 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68298 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68299 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68300 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68301 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68302 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68303 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68304 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68305 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68306 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68307 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68308 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68309 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68310 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68311 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68312 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68313 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68314 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68315 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68316 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68317 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68318 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68319 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68320 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68321 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68322 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68323 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68324 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68325 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68326 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68327 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68328 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68329 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68330 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68331 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68332 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68333 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68334 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68335 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68336 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68337 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68338 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68339 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68340 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68341 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68342 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68343 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68344 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68345 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68346 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68347 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68348 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68349 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68350 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68351 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68352 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68353 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68354 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68355 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68356 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68357 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68358 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68359 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68360 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68361 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68362 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68363 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68364 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68365 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68366 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68367 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68368 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68369 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68370 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68371 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68372 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68373 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68374 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68375 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68376 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68377 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68378 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68379 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68380 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68381 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68382 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68383 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68384 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68385 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68386 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68387 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68388 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68389 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68390 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68391 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68392 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68393 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68394 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68395 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68396 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68397 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68398 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68399 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68400 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68401 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68402 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68403 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68404 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68405 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68406 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68407 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68408 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68409 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68410 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68411 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68412 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68413 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68414 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68415 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68416 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68417 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68418 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68419 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68420 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68421 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68422 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68423 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68424 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68425 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68426 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68427 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68428 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68429 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68430 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68431 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68432 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68433 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68434 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68435 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68436 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68437 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68438 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68439 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68440 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68441 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68442 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68443 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68444 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68445 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68446 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68447 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68448 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68449 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68450 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68451 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68452 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68453 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68454 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68455 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68456 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68457 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68458 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68459 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68460 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68461 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68462 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68463 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68464 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68465 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68466 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68467 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68468 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68469 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68470 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68471 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68472 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68473 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68474 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68475 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68476 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68477 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68478 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68479 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68480 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68481 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68482 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68483 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68484 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68485 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68486 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68487 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68488 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68489 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68490 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68491 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68492 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68493 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68494 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68495 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68496 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68497 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68498 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68499 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68500 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68501 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68502 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68503 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68504 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68505 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68506 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68507 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68508 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68509 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68510 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68511 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68512 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68513 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68514 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68515 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68516 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68517 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68518 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68519 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68520 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68521 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68522 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68523 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68524 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68525 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68526 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68527 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68528 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68529 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68530 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68531 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68532 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68533 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68534 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68535 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68536 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68537 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68538 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68539 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68540 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68541 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68542 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68543 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68544 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68545 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68546 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68547 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68548 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68549 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68550 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68551 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68552 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68553 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68554 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68555 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68556 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68557 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68558 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68559 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68560 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68561 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68562 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68563 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68564 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68565 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68566 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68567 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68568 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68569 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68570 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68571 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68572 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68573 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68574 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68575 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68576 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68577 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68578 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68579 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68580 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68581 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68582 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68583 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68584 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68585 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68586 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68587 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68588 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68589 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68590 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68591 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68592 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68593 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68594 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68595 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68596 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68597 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68598 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68599 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68600 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68601 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68602 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68603 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68604 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68605 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68606 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68607 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68608 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68609 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68610 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68611 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68612 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68613 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68614 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68615 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68616 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68617 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68618 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68619 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68620 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68621 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68622 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68623 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68624 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68625 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68626 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68627 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68628 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68629 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68630 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68631 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68632 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68633 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68634 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68635 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68636 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68637 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68638 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68639 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68640 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68641 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68642 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68643 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68644 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68645 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68646 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68647 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68648 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68649 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68650 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68651 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68652 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68653 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68654 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68655 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68656 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68657 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68658 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68659 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68660 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68661 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68662 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68663 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68664 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68665 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68666 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68667 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68668 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68669 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68670 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68671 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68672 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68673 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68674 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68675 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68676 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68677 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68678 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68679 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68680 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68681 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68682 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68683 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68684 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68685 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68686 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68687 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68688 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68689 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68690 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68691 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68692 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68693 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68694 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68695 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68696 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68697 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68698 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68699 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68700 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68701 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68702 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68703 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68704 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68705 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68706 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68707 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68708 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68709 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68710 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68711 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68712 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68713 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68714 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68715 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68716 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68717 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68718 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68719 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68720 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68721 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68722 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68723 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68724 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68725 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68726 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68727 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68728 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68729 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68730 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68731 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68732 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68733 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68734 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68735 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68736 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68737 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68738 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68739 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68740 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68741 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68742 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68743 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68744 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68745 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68746 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68747 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68748 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68749 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68750 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68751 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68752 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68753 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68754 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68755 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68756 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68757 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68758 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68759 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68760 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68761 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68762 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68763 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68764 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68765 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68766 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68767 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68768 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68769 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68770 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68771 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68772 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68773 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68774 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68775 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68776 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68777 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68778 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68779 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68780 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68781 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68782 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68783 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68784 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68785 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68786 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68787 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68788 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68789 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68790 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68791 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68792 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68793 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68794 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68795 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68796 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68797 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68798 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68799 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68800 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68801 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68802 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68803 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68804 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68805 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68806 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68807 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68808 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68809 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68810 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68811 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68812 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68813 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68814 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68815 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68816 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68817 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68818 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68819 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68820 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68821 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68822 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68823 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68824 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68825 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68826 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68827 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68828 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68829 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68830 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68831 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68832 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68833 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68834 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68835 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68836 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68837 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68838 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68839 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68840 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68841 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68842 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68843 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68844 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68845 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68846 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68847 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68848 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68849 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68850 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68851 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68852 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68853 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68854 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68855 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68856 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68857 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68858 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68859 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68860 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68861 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68862 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68863 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68864 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68865 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68866 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68867 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68868 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68869 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68870 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68871 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68872 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68873 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68874 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68875 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68876 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68877 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68878 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68879 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68880 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68881 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68882 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68883 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68884 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68885 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68886 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68887 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68888 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68889 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68890 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68891 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68892 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68893 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68894 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68895 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68896 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68897 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68898 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68899 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68900 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68901 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68902 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68903 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68904 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68905 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68906 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68907 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68908 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68909 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68910 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68911 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68912 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68913 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68914 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68915 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68916 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68917 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68918 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68919 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68920 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68921 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68922 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68923 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68924 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68925 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68926 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68927 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68928 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68929 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68930 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68931 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68932 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68933 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68934 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68935 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68936 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68937 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68938 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68939 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68940 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68941 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68942 | (Get FASTA) | NCBI Sequence Viewer | |
QBH68943 | (Get FASTA) | NCBI Sequence Viewer | |
QBP05152 | (Get FASTA) | NCBI Sequence Viewer | |
QFU19115 | (Get FASTA) | NCBI Sequence Viewer | |
QGT76553 | (Get FASTA) | NCBI Sequence Viewer | |
QGT76554 | (Get FASTA) | NCBI Sequence Viewer | |
ULD54880 | (Get FASTA) | NCBI Sequence Viewer | |
ULD54881 | (Get FASTA) | NCBI Sequence Viewer | |
ULD54882 | (Get FASTA) | NCBI Sequence Viewer | |
ULD54883 | (Get FASTA) | NCBI Sequence Viewer | |
ULD54884 | (Get FASTA) | NCBI Sequence Viewer | |
UXQ07646 | (Get FASTA) | NCBI Sequence Viewer | |
UXQ07647 | (Get FASTA) | NCBI Sequence Viewer | |
UXQ07648 | (Get FASTA) | NCBI Sequence Viewer | |
UXQ07649 | (Get FASTA) | NCBI Sequence Viewer | |
UXQ07650 | (Get FASTA) | NCBI Sequence Viewer | |
UXQ07651 | (Get FASTA) | NCBI Sequence Viewer | |
UXQ07652 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16167 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16168 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16169 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16170 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16171 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16172 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16173 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16174 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16175 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16176 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16177 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16178 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16179 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16180 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16181 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16182 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16183 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16184 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16185 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16186 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16187 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16188 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16189 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16190 | (Get FASTA) | NCBI Sequence Viewer | |
WCL16191 | (Get FASTA) | NCBI Sequence Viewer | |
XEF57200 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_000509 ⟸ NM_000518 |
- UniProtKB: | Q9UCP8 (UniProtKB/Swiss-Prot), Q9UCD6 (UniProtKB/Swiss-Prot), Q9BX96 (UniProtKB/Swiss-Prot), Q8IZI1 (UniProtKB/Swiss-Prot), Q6R7N2 (UniProtKB/Swiss-Prot), Q6FI08 (UniProtKB/Swiss-Prot), Q549N7 (UniProtKB/Swiss-Prot), Q45KT0 (UniProtKB/Swiss-Prot), Q14510 (UniProtKB/Swiss-Prot), Q14481 (UniProtKB/Swiss-Prot), Q13852 (UniProtKB/Swiss-Prot), P02023 (UniProtKB/Swiss-Prot), B2ZUE0 (UniProtKB/Swiss-Prot), A4GX73 (UniProtKB/Swiss-Prot), Q9UCP9 (UniProtKB/Swiss-Prot), P68871 (UniProtKB/Swiss-Prot), D9YZU5 (UniProtKB/TrEMBL), A0A481SHK9 (UniProtKB/TrEMBL), C8C504 (UniProtKB/TrEMBL) |
- Sequence: |
Ensembl Acc Id: | ENSP00000333994 ⟸ ENST00000335295 |
Ensembl Acc Id: | ENSP00000496200 ⟸ ENST00000485743 |
Ensembl Acc Id: | ENSP00000369671 ⟸ ENST00000380315 |
Ensembl Acc Id: | ENSP00000494175 ⟸ ENST00000647020 |
Ensembl Acc Id: | ENSP00000488004 ⟸ ENST00000633227 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P68871-F1-model_v2 | AlphaFold | P68871 | 1-147 | view protein structure |
RGD ID: | 6849670 | ||||||||
Promoter ID: | EP11104 | ||||||||
Type: | single initiation site | ||||||||
Name: | HS_HBB | ||||||||
Description: | beta-globin. | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Notes: | homology_group=Homology group 32; Mammalian beta-like globins group 1. | ||||||||
Tissues & Cell Lines: | adult, bone marrow, erythroid cells | ||||||||
Experiment Methods: | Direct RNA sequencing; Sequencing of a full-length cDNA; NEDO full length human cDNA sequencing project.; Oligo-capping | ||||||||
Position: |
|
RGD ID: | 7219425 | ||||||||
Promoter ID: | EPDNEW_H15458 | ||||||||
Type: | initiation region | ||||||||
Name: | HBB_1 | ||||||||
Description: | hemoglobin subunit beta | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H15459 | ||||||||
Experiment Methods: | Single-end sequencing. | ||||||||
Position: |
|
RGD ID: | 7219427 | ||||||||
Promoter ID: | EPDNEW_H15459 | ||||||||
Type: | initiation region | ||||||||
Name: | HBB_2 | ||||||||
Description: | hemoglobin subunit beta | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Alternative Promoters: | null; see alsoEPDNEW_H15458 | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
|
Database | Acc Id | Source(s) |
AGR Gene | HGNC:4827 | AgrOrtholog |
COSMIC | HBB | COSMIC |
Ensembl Genes | ENSG00000244734 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000335295 | ENTREZGENE |
ENST00000335295.4 | UniProtKB/Swiss-Prot | |
ENST00000647020.1 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 1.10.490.10 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000244734 | GTEx |
HGNC ID | HGNC:4827 | ENTREZGENE |
Human Proteome Map | HBB | Human Proteome Map |
InterPro | Globin | UniProtKB/Swiss-Prot |
Globin-like_sf | UniProtKB/Swiss-Prot | |
Globin/Proto | UniProtKB/Swiss-Prot | |
Haemoglobin_b | UniProtKB/Swiss-Prot | |
Hemoglobin_oxygen_transport | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:3043 | UniProtKB/Swiss-Prot |
NCBI Gene | 3043 | ENTREZGENE |
OMIM | 141900 | OMIM |
PANTHER | HEMOGLOBIN FAMILY MEMBER | UniProtKB/Swiss-Prot |
HEMOGLOBIN SUBUNIT BETA | UniProtKB/Swiss-Prot | |
Pfam | Globin | UniProtKB/Swiss-Prot |
PharmGKB | PA29202 | PharmGKB |
PRINTS | BETAHAEM | UniProtKB/Swiss-Prot |
PROSITE | GLOBIN | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF46458 | UniProtKB/Swiss-Prot |
UniProt | A0A0J9YWK4_HUMAN | UniProtKB/TrEMBL |
A0A140KFU0_HUMAN | UniProtKB/TrEMBL | |
A0A1B4WRL5_HUMAN | UniProtKB/TrEMBL | |
A0A2R8Y7R2_HUMAN | UniProtKB/TrEMBL | |
A0A2S1CVU8_HUMAN | UniProtKB/TrEMBL | |
A0A3G5AXY7_HUMAN | UniProtKB/TrEMBL | |
A0A3G9CLN8_HUMAN | UniProtKB/TrEMBL | |
A0A481SHK9 | ENTREZGENE, UniProtKB/TrEMBL | |
A1YZ08_HUMAN | UniProtKB/TrEMBL | |
A4GX73 | ENTREZGENE | |
A9YUX2_HUMAN | UniProtKB/TrEMBL | |
B2M0Y1_HUMAN | UniProtKB/TrEMBL | |
B2M1S6_HUMAN | UniProtKB/TrEMBL | |
B2M1S7_HUMAN | UniProtKB/TrEMBL | |
B2ZUE0 | ENTREZGENE | |
B3VL86_HUMAN | UniProtKB/TrEMBL | |
B5ANL9_HUMAN | UniProtKB/TrEMBL | |
C8C504 | ENTREZGENE, UniProtKB/TrEMBL | |
D9YZU5 | ENTREZGENE, UniProtKB/TrEMBL | |
E9M263_HUMAN | UniProtKB/TrEMBL | |
E9NGZ5_HUMAN | UniProtKB/TrEMBL | |
F8W6P5_HUMAN | UniProtKB/TrEMBL | |
HBB_HUMAN | UniProtKB/Swiss-Prot | |
J7LKS8_HUMAN | UniProtKB/TrEMBL | |
O95408_HUMAN | UniProtKB/TrEMBL | |
O95412_HUMAN | UniProtKB/TrEMBL | |
P02023 | ENTREZGENE | |
P68871 | ENTREZGENE | |
Q0Z944_HUMAN | UniProtKB/TrEMBL | |
Q13852 | ENTREZGENE | |
Q14477_HUMAN | UniProtKB/TrEMBL | |
Q14481 | ENTREZGENE | |
Q14484_HUMAN | UniProtKB/TrEMBL | |
Q14510 | ENTREZGENE | |
Q2XP30_HUMAN | UniProtKB/TrEMBL | |
Q3LR79_HUMAN | UniProtKB/TrEMBL | |
Q3Y9I8_HUMAN | UniProtKB/TrEMBL | |
Q45KT0 | ENTREZGENE | |
Q4JLR8_HUMAN | UniProtKB/TrEMBL | |
Q4TWB7_HUMAN | UniProtKB/TrEMBL | |
Q4TZM4_HUMAN | UniProtKB/TrEMBL | |
Q52MT0_HUMAN | UniProtKB/TrEMBL | |
Q549N7 | ENTREZGENE | |
Q5GMQ1_HUMAN | UniProtKB/TrEMBL | |
Q6FI08 | ENTREZGENE | |
Q6J1Z7_HUMAN | UniProtKB/TrEMBL | |
Q6J1Z8_HUMAN | UniProtKB/TrEMBL | |
Q6R7N2 | ENTREZGENE | |
Q6V0K9_HUMAN | UniProtKB/TrEMBL | |
Q6VFQ5_HUMAN | UniProtKB/TrEMBL | |
Q6VFQ6_HUMAN | UniProtKB/TrEMBL | |
Q7Z2K5_HUMAN | UniProtKB/TrEMBL | |
Q86VF0_HUMAN | UniProtKB/TrEMBL | |
Q8IUL9_HUMAN | UniProtKB/TrEMBL | |
Q8IZI0_HUMAN | UniProtKB/TrEMBL | |
Q8IZI1 | ENTREZGENE | |
Q9BWU5_HUMAN | UniProtKB/TrEMBL | |
Q9BWV6_HUMAN | UniProtKB/TrEMBL | |
Q9BX96 | ENTREZGENE | |
Q9GZL9_HUMAN | UniProtKB/TrEMBL | |
Q9H1I5_HUMAN | UniProtKB/TrEMBL | |
Q9H1I6_HUMAN | UniProtKB/TrEMBL | |
Q9HAR8_HUMAN | UniProtKB/TrEMBL | |
Q9UBV6_HUMAN | UniProtKB/TrEMBL | |
Q9UCD6 | ENTREZGENE | |
Q9UCP8 | ENTREZGENE | |
Q9UCP9 | ENTREZGENE | |
Q9UK54_HUMAN | UniProtKB/TrEMBL | |
Q9UP81_HUMAN | UniProtKB/TrEMBL | |
Q9Y6D8_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | A4GX73 | UniProtKB/Swiss-Prot |
B2ZUE0 | UniProtKB/Swiss-Prot | |
P02023 | UniProtKB/Swiss-Prot | |
Q13852 | UniProtKB/Swiss-Prot | |
Q14481 | UniProtKB/Swiss-Prot | |
Q14510 | UniProtKB/Swiss-Prot | |
Q45KT0 | UniProtKB/Swiss-Prot | |
Q549N7 | UniProtKB/Swiss-Prot | |
Q6FI08 | UniProtKB/Swiss-Prot | |
Q6R7N2 | UniProtKB/Swiss-Prot | |
Q8IZI1 | UniProtKB/Swiss-Prot | |
Q9BX96 | UniProtKB/Swiss-Prot | |
Q9UCD6 | UniProtKB/Swiss-Prot | |
Q9UCP8 | UniProtKB/Swiss-Prot | |
Q9UCP9 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2015-12-01 | HBB | hemoglobin subunit beta | HBB | hemoglobin, beta | Symbol and/or name change | 5135510 | APPROVED |