Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.37073553C>ACA411420761TMPRSS6c.1534G>T (p.Asp512Tyr)
c.1561G>T (p.Asp521Tyr)
c.1102G>T (p.Asp368Tyr)
22g.37073553C=CA2404170505TMPRSS6c.1534G= (p.Asp512=)
c.1561G= (p.Asp521=)
c.1102G= (p.Asp368=)
22g.37073553C>GCA411420763TMPRSS6c.1534G>C (p.Asp512His)
c.1561G>C (p.Asp521His)
c.1102G>C (p.Asp368His)
22g.37073553C>TCA114990TMPRSS6c.1534G>A (p.Asp512Asn)
c.1561G>A (p.Asp521Asn)
c.1102G>A (p.Asp368Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.37073554G>ACA10215573TMPRSS6c.1533C>T (p.Ser511=)
c.1560C>T (p.Ser520=)
c.1101C>T (p.Ser367=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37073554G>CCA411420768TMPRSS6c.1533C>G (p.Ser511Arg)
c.1560C>G (p.Ser520Arg)
c.1101C>G (p.Ser367Arg)
22g.37073554G=CA2404170506TMPRSS6c.1533C= (p.Ser511=)
c.1560C= (p.Ser520=)
c.1101C= (p.Ser367=)
22g.37073554G>TCA411420769TMPRSS6c.1533C>A (p.Ser511Arg)
c.1560C>A (p.Ser520Arg)
c.1101C>A (p.Ser367Arg)
22g.37073555C>ACA411420772TMPRSS6c.1532G>T (p.Ser511Ile)
c.1559G>T (p.Ser520Ile)
c.1100G>T (p.Ser367Ile)
22g.37073555C=CA2404170507TMPRSS6c.1532G= (p.Ser511=)
c.1559G= (p.Ser520=)
c.1100G= (p.Ser367=)
22g.37073555C>GCA411420774TMPRSS6c.1532G>C (p.Ser511Thr)
c.1559G>C (p.Ser520Thr)
c.1100G>C (p.Ser367Thr)
22g.37073555C>TCA10215574TMPRSS6c.1532G>A (p.Ser511Asn)
c.1559G>A (p.Ser520Asn)
c.1100G>A (p.Ser367Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37073556T>ACA411420778TMPRSS6c.1531A>T (p.Ser511Cys)
c.1558A>T (p.Ser520Cys)
c.1099A>T (p.Ser367Cys)
22g.37073556T>CCA411420780TMPRSS6c.1531A>G (p.Ser511Gly)
c.1558A>G (p.Ser520Gly)
c.1099A>G (p.Ser367Gly)
22g.37073556T>GCA411420782TMPRSS6c.1531A>C (p.Ser511Arg)
c.1558A>C (p.Ser520Arg)
c.1099A>C (p.Ser367Arg)
22g.37073557G>ACA514482272TMPRSS6c.1530C>T (p.Gly510=)
c.1557C>T (p.Gly519=)
c.1098C>T (p.Gly366=)
gnomAD v4
22g.37073557G>CCA514482273TMPRSS6c.1530C>G (p.Gly510=)
c.1557C>G (p.Gly519=)
c.1098C>G (p.Gly366=)
22g.37073557G>TCA514482274TMPRSS6c.1530C>A (p.Gly510=)
c.1557C>A (p.Gly519=)
c.1098C>A (p.Gly366=)
22g.37073558C>ACA10215575TMPRSS6c.1529G>T (p.Gly510Val)
c.1556G>T (p.Gly519Val)
c.1097G>T (p.Gly366Val)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37073558C=CA2404170508TMPRSS6c.1529G= (p.Gly510=)
c.1556G= (p.Gly519=)
c.1097G= (p.Gly366=)
22g.37073558C>GCA411420787TMPRSS6c.1529G>C (p.Gly510Ala)
c.1556G>C (p.Gly519Ala)
c.1097G>C (p.Gly366Ala)
22g.37073558C>TCA411420785TMPRSS6c.1529G>A (p.Gly510Asp)
c.1556G>A (p.Gly519Asp)
c.1097G>A (p.Gly366Asp)
gnomAD v4 COSMIC COSMIC
22g.37073559C>ACA411420790TMPRSS6c.1528G>T (p.Gly510Cys)
c.1555G>T (p.Gly519Cys)
c.1096G>T (p.Gly366Cys)
22g.37073559C=CA2404170509TMPRSS6c.1528G= (p.Gly510=)
c.1555G= (p.Gly519=)
c.1096G= (p.Gly366=)
22g.37073559C>GCA411420792TMPRSS6c.1528G>C (p.Gly510Arg)
c.1555G>C (p.Gly519Arg)
c.1096G>C (p.Gly366Arg)
gnomAD v4
22g.37073559C>TCA10215576TMPRSS6c.1528G>A (p.Gly510Ser)
c.1555G>A (p.Gly519Ser)
c.1096G>A (p.Gly366Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37073560G>ACA10215577TMPRSS6c.1527C>T (p.Asn509=)
c.1554C>T (p.Asn518=)
c.1095C>T (p.Asn365=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
22g.37073560G>CCA10215578TMPRSS6c.1527C>G (p.Asn509Lys)
c.1554C>G (p.Asn518Lys)
c.1095C>G (p.Asn365Lys)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37073560G=CA2404170510TMPRSS6c.1527C= (p.Asn509=)
c.1554C= (p.Asn518=)
c.1095C= (p.Asn365=)
22g.37073560G>TCA411420795TMPRSS6c.1527C>A (p.Asn509Lys)
c.1554C>A (p.Asn518Lys)
c.1095C>A (p.Asn365Lys)
gnomAD v4
22g.37073561T>ACA411420798TMPRSS6c.1526A>T (p.Asn509Ile)
c.1553A>T (p.Asn518Ile)
c.1094A>T (p.Asn365Ile)
22g.37073561T>CCA411420803TMPRSS6c.1526A>G (p.Asn509Ser)
c.1553A>G (p.Asn518Ser)
c.1094A>G (p.Asn365Ser)
22g.37073561T>GCA411420801TMPRSS6c.1526A>C (p.Asn509Thr)
c.1553A>C (p.Asn518Thr)
c.1094A>C (p.Asn365Thr)
22g.37073562T>ACA411420805TMPRSS6c.1525A>T (p.Asn509Tyr)
c.1552A>T (p.Asn518Tyr)
c.1093A>T (p.Asn365Tyr)
22g.37073562T>CCA411420809TMPRSS6c.1525A>G (p.Asn509Asp)
c.1552A>G (p.Asn518Asp)
c.1093A>G (p.Asn365Asp)
22g.37073562T>GCA411420807TMPRSS6c.1525A>C (p.Asn509His)
c.1552A>C (p.Asn518His)
c.1093A>C (p.Asn365His)
gnomAD v4
22g.37073563G>ACA514482275TMPRSS6c.1524C>T (p.Leu508=)
c.1551C>T (p.Leu517=)
c.1092C>T (p.Leu364=)
22g.37073563G>CCA514482276TMPRSS6c.1524C>G (p.Leu508=)
c.1551C>G (p.Leu517=)
c.1092C>G (p.Leu364=)
22g.37073563G>TCA514482277TMPRSS6c.1524C>A (p.Leu508=)
c.1551C>A (p.Leu517=)
c.1092C>A (p.Leu364=)
COSMIC
22g.37073564A>CCA411420811TMPRSS6c.1523T>G (p.Leu508Arg)
c.1550T>G (p.Leu517Arg)
c.1091T>G (p.Leu364Arg)
22g.37073564A>GCA411420813TMPRSS6c.1523T>C (p.Leu508Pro)
c.1550T>C (p.Leu517Pro)
c.1091T>C (p.Leu364Pro)
22g.37073564A>TCA411420815TMPRSS6c.1523T>A (p.Leu508His)
c.1550T>A (p.Leu517His)
c.1091T>A (p.Leu364His)
22g.37073565G>ACA411420818TMPRSS6c.1522C>T (p.Leu508Phe)
c.1549C>T (p.Leu517Phe)
c.1090C>T (p.Leu364Phe)
gnomAD v4
22g.37073565G>CCA411420820TMPRSS6c.1522C>G (p.Leu508Val)
c.1549C>G (p.Leu517Val)
c.1090C>G (p.Leu364Val)
22g.37073565G>TCA411420821TMPRSS6c.1522C>A (p.Leu508Ile)
c.1549C>A (p.Leu517Ile)
c.1090C>A (p.Leu364Ile)
22g.37073566A>CCA411420826TMPRSS6c.1521T>G (p.Cys507Trp)
c.1548T>G (p.Cys516Trp)
c.1089T>G (p.Cys363Trp)
22g.37073566A>GCA514482278TMPRSS6c.1521T>C (p.Cys507=)
c.1548T>C (p.Cys516=)
c.1089T>C (p.Cys363=)
22g.37073566A>TCA411420824TMPRSS6c.1521T>A (p.Cys507Ter)
c.1548T>A (p.Cys516Ter)
c.1089T>A (p.Cys363Ter)
22g.37073567C>ACA411420828TMPRSS6c.1520G>T (p.Cys507Phe)
c.1547G>T (p.Cys516Phe)
c.1088G>T (p.Cys363Phe)
22g.37073567C=CA2404170511TMPRSS6c.1520G= (p.Cys507=)
c.1547G= (p.Cys516=)
c.1088G= (p.Cys363=)
22g.37073567C>GCA411420830TMPRSS6c.1520G>C (p.Cys507Ser)
c.1547G>C (p.Cys516Ser)
c.1088G>C (p.Cys363Ser)
22g.37073567C>TCA10215579TMPRSS6c.1520G>A (p.Cys507Tyr)
c.1547G>A (p.Cys516Tyr)
c.1088G>A (p.Cys363Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37073568A>CCA411420832TMPRSS6c.1519T>G (p.Cys507Gly)
c.1546T>G (p.Cys516Gly)
c.1087T>G (p.Cys363Gly)
22g.37073568A>GCA411420834TMPRSS6c.1519T>C (p.Cys507Arg)
c.1546T>C (p.Cys516Arg)
c.1087T>C (p.Cys363Arg)
22g.37073568A>TCA411420836TMPRSS6c.1519T>A (p.Cys507Ser)
c.1546T>A (p.Cys516Ser)
c.1087T>A (p.Cys363Ser)
22g.37073569A=CA2404170512TMPRSS6c.1518T= (p.Asp506=)
c.1545T= (p.Asp515=)
c.1086T= (p.Asp362=)
22g.37073569A>CCA411420837TMPRSS6c.1518T>G (p.Asp506Glu)
c.1545T>G (p.Asp515Glu)
c.1086T>G (p.Asp362Glu)
22g.37073569A>GCA10215580TMPRSS6c.1518T>C (p.Asp506=)
c.1545T>C (p.Asp515=)
c.1086T>C (p.Asp362=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37073569A>TCA411420838TMPRSS6c.1518T>A (p.Asp506Glu)
c.1545T>A (p.Asp515Glu)
c.1086T>A (p.Asp362Glu)
22g.37073570T>ACA411420841TMPRSS6c.1517A>T (p.Asp506Val)
c.1544A>T (p.Asp515Val)
c.1085A>T (p.Asp362Val)
22g.37073570T>CCA411420842TMPRSS6c.1517A>G (p.Asp506Gly)
c.1544A>G (p.Asp515Gly)
c.1085A>G (p.Asp362Gly)
22g.37073570T>GCA411420844TMPRSS6c.1517A>C (p.Asp506Ala)
c.1544A>C (p.Asp515Ala)
c.1085A>C (p.Asp362Ala)
22g.37073570_37073584delinsTCAGGCTGCCCATCACA2404170513TMPRSS6c.1503_1517delinsTGATGGGCAGCCTGA (p.Cys501=)
c.1530_1544delinsTGATGGGCAGCCTGA (p.Cys510=)
c.1071_1085delinsTGATGGGCAGCCTGA (p.Cys357=)
22g.37073571C>ACA411420846TMPRSS6c.1516G>T (p.Asp506Tyr)
c.1543G>T (p.Asp515Tyr)
c.1084G>T (p.Asp362Tyr)
22g.37073571C=CA2404170514TMPRSS6c.1516G= (p.Asp506=)
c.1543G= (p.Asp515=)
c.1084G= (p.Asp362=)
22g.37073571C>GCA411420849TMPRSS6c.1516G>C (p.Asp506His)
c.1543G>C (p.Asp515His)
c.1084G>C (p.Asp362His)
dbSNP gnomAD v3 gnomAD v4
22g.37073571C>TCA411420850TMPRSS6c.1516G>A (p.Asp506Asn)
c.1543G>A (p.Asp515Asn)
c.1084G>A (p.Asp362Asn)
22g.37073574_37073587delCA1025527506TMPRSS6c.1503_1516del (p.Cys501Ter)
c.1530_1543del (p.Cys510Ter)
c.1071_1084del (p.Cys357Ter)
dbSNP gnomAD v3 gnomAD v4
22g.37073572A>CCA514482279TMPRSS6c.1515T>G (p.Pro505=)
c.1542T>G (p.Pro514=)
c.1083T>G (p.Pro361=)
22g.37073572A>GCA514482280TMPRSS6c.1515T>C (p.Pro505=)
c.1542T>C (p.Pro514=)
c.1083T>C (p.Pro361=)
22g.37073572A>TCA514482281TMPRSS6c.1515T>A (p.Pro505=)
c.1542T>A (p.Pro514=)
c.1083T>A (p.Pro361=)
22g.37073573G>ACA411420853TMPRSS6c.1514C>T (p.Pro505Leu)
c.1541C>T (p.Pro514Leu)
c.1082C>T (p.Pro361Leu)
22g.37073573G>CCA411420855TMPRSS6c.1514C>G (p.Pro505Arg)
c.1541C>G (p.Pro514Arg)
c.1082C>G (p.Pro361Arg)
22g.37073573G>TCA411420857TMPRSS6c.1514C>A (p.Pro505His)
c.1541C>A (p.Pro514His)
c.1082C>A (p.Pro361His)
22g.37073574delCA514482282TMPRSS6c.1514del (p.Pro505LeufsTer?)
c.1541del (p.Pro514LeufsTer?)
c.1082del (p.Pro361LeufsTer?)
gnomAD v4
22g.37073574G>ACA411420858TMPRSS6c.1513C>T (p.Pro505Ser)
c.1540C>T (p.Pro514Ser)
c.1081C>T (p.Pro361Ser)
gnomAD v4
22g.37073574G>CCA411420860TMPRSS6c.1513C>G (p.Pro505Ala)
c.1540C>G (p.Pro514Ala)
c.1081C>G (p.Pro361Ala)
22g.37073574G>TCA411420862TMPRSS6c.1513C>A (p.Pro505Thr)
c.1540C>A (p.Pro514Thr)
c.1081C>A (p.Pro361Thr)
22g.37073576_37073578dupCA2656483284TMPRSS6c.1511_1513dup (p.Gln504_Pro505insGln)
c.1538_1540dup (p.Gln513_Pro514insGln)
c.1079_1081dup (p.Gln360_Pro361insGln)
gnomAD v4
22g.37073575C>ACA411420864TMPRSS6c.1512G>T (p.Gln504His)
c.1539G>T (p.Gln513His)
c.1080G>T (p.Gln360His)
22g.37073575C>GCA411420866TMPRSS6c.1512G>C (p.Gln504His)
c.1539G>C (p.Gln513His)
c.1080G>C (p.Gln360His)
gnomAD v4
22g.37073575C>TCA514482283TMPRSS6c.1512G>A (p.Gln504=)
c.1539G>A (p.Gln513=)
c.1080G>A (p.Gln360=)
22g.37073576T>ACA411420868TMPRSS6c.1511A>T (p.Gln504Leu)
c.1538A>T (p.Gln513Leu)
c.1079A>T (p.Gln360Leu)
22g.37073576T>CCA411420870TMPRSS6c.1511A>G (p.Gln504Arg)
c.1538A>G (p.Gln513Arg)
c.1079A>G (p.Gln360Arg)
gnomAD v4
22g.37073576T>GCA411420872TMPRSS6c.1511A>C (p.Gln504Pro)
c.1538A>C (p.Gln513Pro)
c.1079A>C (p.Gln360Pro)
22g.37073577G>ACA411420875TMPRSS6c.1510C>T (p.Gln504Ter)
c.1537C>T (p.Gln513Ter)
c.1078C>T (p.Gln360Ter)
22g.37073577G>CCA411420876TMPRSS6c.1510C>G (p.Gln504Glu)
c.1537C>G (p.Gln513Glu)
c.1078C>G (p.Gln360Glu)
22g.37073577G=CA2404170515TMPRSS6c.1510C= (p.Gln504=)
c.1537C= (p.Gln513=)
c.1078C= (p.Gln360=)
22g.37073577G>TCA411420878TMPRSS6c.1510C>A (p.Gln504Lys)
c.1537C>A (p.Gln513Lys)
c.1078C>A (p.Gln360Lys)
dbSNP gnomAD v4
22g.37073578C>ACA514482284TMPRSS6c.1509G>T (p.Gly503=)
c.1536G>T (p.Gly512=)
c.1077G>T (p.Gly359=)
22g.37073578C>GCA514482285TMPRSS6c.1509G>C (p.Gly503=)
c.1536G>C (p.Gly512=)
c.1077G>C (p.Gly359=)
22g.37073578C>TCA514482286TMPRSS6c.1509G>A (p.Gly503=)
c.1536G>A (p.Gly512=)
c.1077G>A (p.Gly359=)
22g.37073579C>ACA411420884TMPRSS6c.1508G>T (p.Gly503Val)
c.1535G>T (p.Gly512Val)
c.1076G>T (p.Gly359Val)
22g.37073579C>GCA411420882TMPRSS6c.1508G>C (p.Gly503Ala)
c.1535G>C (p.Gly512Ala)
c.1076G>C (p.Gly359Ala)
22g.37073579C>TCA411420880TMPRSS6c.1508G>A (p.Gly503Glu)
c.1535G>A (p.Gly512Glu)
c.1076G>A (p.Gly359Glu)
22g.37073580C>ACA411420885TMPRSS6c.1507G>T (p.Gly503Trp)
c.1534G>T (p.Gly512Trp)
c.1075G>T (p.Gly359Trp)
22g.37073580C>GCA411420888TMPRSS6c.1507G>C (p.Gly503Arg)
c.1534G>C (p.Gly512Arg)
c.1075G>C (p.Gly359Arg)
22g.37073580C>TCA411420889TMPRSS6c.1507G>A (p.Gly503Arg)
c.1534G>A (p.Gly512Arg)
c.1075G>A (p.Gly359Arg)
22g.37073581A=CA2404170516TMPRSS6c.1506T= (p.Asp502=)
c.1533T= (p.Asp511=)
c.1074T= (p.Asp358=)
22g.37073581A>CCA411420891TMPRSS6c.1506T>G (p.Asp502Glu)
c.1533T>G (p.Asp511Glu)
c.1074T>G (p.Asp358Glu)
22g.37073581A>GCA10215581TMPRSS6c.1506T>C (p.Asp502=)
c.1533T>C (p.Asp511=)
c.1074T>C (p.Asp358=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37073581A>TCA411420894TMPRSS6c.1506T>A (p.Asp502Glu)
c.1533T>A (p.Asp511Glu)
c.1074T>A (p.Asp358Glu)
22g.37073582T>ACA411420896TMPRSS6c.1505A>T (p.Asp502Val)
c.1532A>T (p.Asp511Val)
c.1073A>T (p.Asp358Val)
22g.37073582T>CCA324048733TMPRSS6c.1505A>G (p.Asp502Gly)
c.1532A>G (p.Asp511Gly)
c.1073A>G (p.Asp358Gly)
dbSNP gnomAD v3 gnomAD v4
22g.37073582T>GCA411420899TMPRSS6c.1505A>C (p.Asp502Ala)
c.1532A>C (p.Asp511Ala)
c.1073A>C (p.Asp358Ala)
22g.37073582T=CA2404170517TMPRSS6c.1505A= (p.Asp502=)
c.1532A= (p.Asp511=)
c.1073A= (p.Asp358=)
22g.37073583C>ACA411420901TMPRSS6c.1504G>T (p.Asp502Tyr)
c.1531G>T (p.Asp511Tyr)
c.1072G>T (p.Asp358Tyr)
22g.37073583C>GCA411420903TMPRSS6c.1504G>C (p.Asp502His)
c.1531G>C (p.Asp511His)
c.1072G>C (p.Asp358His)
22g.37073583C>TCA411420905TMPRSS6c.1504G>A (p.Asp502Asn)
c.1531G>A (p.Asp511Asn)
c.1072G>A (p.Asp358Asn)
22g.37073584A>CCA411420907TMPRSS6c.1503T>G (p.Cys501Trp)
c.1530T>G (p.Cys510Trp)
c.1071T>G (p.Cys357Trp)
22g.37073584A>GCA514482287TMPRSS6c.1503T>C (p.Cys501=)
c.1530T>C (p.Cys510=)
c.1071T>C (p.Cys357=)
gnomAD v4
22g.37073584A>TCA411420909TMPRSS6c.1503T>A (p.Cys501Ter)
c.1530T>A (p.Cys510Ter)
c.1071T>A (p.Cys357Ter)
22g.37073585C>ACA411420911TMPRSS6c.1502G>T (p.Cys501Phe)
c.1529G>T (p.Cys510Phe)
c.1070G>T (p.Cys357Phe)
22g.37073585C>GCA411420914TMPRSS6c.1502G>C (p.Cys501Ser)
c.1529G>C (p.Cys510Ser)
c.1070G>C (p.Cys357Ser)
22g.37073585C>TCA411420915TMPRSS6c.1502G>A (p.Cys501Tyr)
c.1529G>A (p.Cys510Tyr)
c.1070G>A (p.Cys357Tyr)
22g.37073586A>CCA411420918TMPRSS6c.1501T>G (p.Cys501Gly)
c.1528T>G (p.Cys510Gly)
c.1069T>G (p.Cys357Gly)
22g.37073586A>GCA411420920TMPRSS6c.1501T>C (p.Cys501Arg)
c.1528T>C (p.Cys510Arg)
c.1069T>C (p.Cys357Arg)
22g.37073586A>TCA411420922TMPRSS6c.1501T>A (p.Cys501Ser)
c.1528T>A (p.Cys510Ser)
c.1069T>A (p.Cys357Ser)
gnomAD v4
22g.37073587G>ACA514482289TMPRSS6c.1500C>T (p.Val500=)
c.1527C>T (p.Val509=)
c.1068C>T (p.Val356=)
22g.37073587G>CCA514482290TMPRSS6c.1500C>G (p.Val500=)
c.1527C>G (p.Val509=)
c.1068C>G (p.Val356=)
22g.37073587G>TCA514482288TMPRSS6c.1500C>A (p.Val500=)
c.1527C>A (p.Val509=)
c.1068C>A (p.Val356=)
22g.37073588A=CA2404170518TMPRSS6c.1499T= (p.Val500=)
c.1526T= (p.Val509=)
c.1067T= (p.Val356=)
22g.37073588A>CCA411420924TMPRSS6c.1499T>G (p.Val500Gly)
c.1526T>G (p.Val509Gly)
c.1067T>G (p.Val356Gly)
22g.37073588A>GCA10215582TMPRSS6c.1499T>C (p.Val500Ala)
c.1526T>C (p.Val509Ala)
c.1067T>C (p.Val356Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37073588A>TCA411420926TMPRSS6c.1499T>A (p.Val500Asp)
c.1526T>A (p.Val509Asp)
c.1067T>A (p.Val356Asp)
22g.37073589C>ACA411420928TMPRSS6c.1498G>T (p.Val500Phe)
c.1525G>T (p.Val509Phe)
c.1066G>T (p.Val356Phe)
22g.37073589C>GCA411420931TMPRSS6c.1498G>C (p.Val500Leu)
c.1525G>C (p.Val509Leu)
c.1066G>C (p.Val356Leu)
22g.37073589C>TCA411420929TMPRSS6c.1498G>A (p.Val500Ile)
c.1525G>A (p.Val509Ile)
c.1066G>A (p.Val356Ile)
22g.37073590C>ACA411420932TMPRSS6c.1497G>T (p.Lys499Asn)
c.1524G>T (p.Lys508Asn)
c.1065G>T (p.Lys355Asn)
22g.37073590C>GCA411420934TMPRSS6c.1497G>C (p.Lys499Asn)
c.1524G>C (p.Lys508Asn)
c.1065G>C (p.Lys355Asn)
22g.37073590C>TCA514482291TMPRSS6c.1497G>A (p.Lys499=)
c.1524G>A (p.Lys508=)
c.1065G>A (p.Lys355=)
gnomAD v4
22g.37073591T>ACA411420936TMPRSS6c.1496A>T (p.Lys499Met)
c.1523A>T (p.Lys508Met)
c.1064A>T (p.Lys355Met)
22g.37073591T>CCA10215583TMPRSS6c.1496A>G (p.Lys499Arg)
c.1523A>G (p.Lys508Arg)
c.1064A>G (p.Lys355Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37073591T>GCA411420940TMPRSS6c.1496A>C (p.Lys499Thr)
c.1523A>C (p.Lys508Thr)
c.1064A>C (p.Lys355Thr)
22g.37073591T=CA2404170519TMPRSS6c.1496A= (p.Lys499=)
c.1523A= (p.Lys508=)
c.1064A= (p.Lys355=)
22g.37073592T>ACA411420943TMPRSS6c.1495A>T (p.Lys499Ter)
c.1522A>T (p.Lys508Ter)
c.1063A>T (p.Lys355Ter)
gnomAD v4
22g.37073592T>CCA10215584TMPRSS6c.1495A>G (p.Lys499Glu)
c.1522A>G (p.Lys508Glu)
c.1063A>G (p.Lys355Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37073592T>GCA411420946TMPRSS6c.1495A>C (p.Lys499Gln)
c.1522A>C (p.Lys508Gln)
c.1063A>C (p.Lys355Gln)
22g.37073592T=CA2404170520TMPRSS6c.1495A= (p.Lys499=)
c.1522A= (p.Lys508=)
c.1063A= (p.Lys355=)
22g.37073593G>ACA514482294TMPRSS6c.1494C>T (p.Pro498=)
c.1521C>T (p.Pro507=)
c.1062C>T (p.Pro354=)
dbSNP
22g.37073593G>CCA514482292TMPRSS6c.1494C>G (p.Pro498=)
c.1521C>G (p.Pro507=)
c.1062C>G (p.Pro354=)
22g.37073593G=CA2404170521TMPRSS6c.1494C= (p.Pro498=)
c.1521C= (p.Pro507=)
c.1062C= (p.Pro354=)
22g.37073593G>TCA514482293TMPRSS6c.1494C>A (p.Pro498=)
c.1521C>A (p.Pro507=)
c.1062C>A (p.Pro354=)
22g.37073594G>ACA10215585TMPRSS6c.1493C>T (p.Pro498Leu)
c.1520C>T (p.Pro507Leu)
c.1061C>T (p.Pro354Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37073594G>CCA411420949TMPRSS6c.1493C>G (p.Pro498Arg)
c.1520C>G (p.Pro507Arg)
c.1061C>G (p.Pro354Arg)
22g.37073594G=CA2404170522TMPRSS6c.1493C= (p.Pro498=)
c.1520C= (p.Pro507=)
c.1061C= (p.Pro354=)
22g.37073594G>TCA411420951TMPRSS6c.1493C>A (p.Pro498His)
c.1520C>A (p.Pro507His)
c.1061C>A (p.Pro354His)
22g.37073595G>ACA411420957TMPRSS6c.1492C>T (p.Pro498Ser)
c.1519C>T (p.Pro507Ser)
c.1060C>T (p.Pro354Ser)
gnomAD v4
22g.37073595G>CCA411420956TMPRSS6c.1492C>G (p.Pro498Ala)
c.1519C>G (p.Pro507Ala)
c.1060C>G (p.Pro354Ala)
22g.37073595G>TCA411420954TMPRSS6c.1492C>A (p.Pro498Thr)
c.1519C>A (p.Pro507Thr)
c.1060C>A (p.Pro354Thr)
22g.37073596C>ACA514482295TMPRSS6c.1491G>T (p.Leu497=)
c.1518G>T (p.Leu506=)
c.1059G>T (p.Leu353=)
22g.37073596C>GCA514482296TMPRSS6c.1491G>C (p.Leu497=)
c.1518G>C (p.Leu506=)
c.1059G>C (p.Leu353=)
22g.37073596C>TCA514482297TMPRSS6c.1491G>A (p.Leu497=)
c.1518G>A (p.Leu506=)
c.1059G>A (p.Leu353=)
22g.37073597A>CCA411420960TMPRSS6c.1490T>G (p.Leu497Arg)
c.1517T>G (p.Leu506Arg)
c.1058T>G (p.Leu353Arg)
22g.37073597A>GCA411420962TMPRSS6c.1490T>C (p.Leu497Pro)
c.1517T>C (p.Leu506Pro)
c.1058T>C (p.Leu353Pro)
22g.37073597A>TCA411420963TMPRSS6c.1490T>A (p.Leu497Gln)
c.1517T>A (p.Leu506Gln)
c.1058T>A (p.Leu353Gln)
22g.37073598G>ACA514482298TMPRSS6c.1489C>T (p.Leu497=)
c.1516C>T (p.Leu506=)
c.1057C>T (p.Leu353=)
dbSNP gnomAD v2 gnomAD v4
22g.37073598G>CCA411420965TMPRSS6c.1489C>G (p.Leu497Val)
c.1516C>G (p.Leu506Val)
c.1057C>G (p.Leu353Val)
22g.37073598G=CA2404170523TMPRSS6c.1489C= (p.Leu497=)
c.1516C= (p.Leu506=)
c.1057C= (p.Leu353=)
22g.37073598G>TCA411420967TMPRSS6c.1489C>A (p.Leu497Met)
c.1516C>A (p.Leu506Met)
c.1057C>A (p.Leu353Met)
22g.37073599T>ACA514482299TMPRSS6c.1488A>T (p.Ser496=)
c.1515A>T (p.Ser505=)
c.1056A>T (p.Ser352=)
22g.37073599T>CCA514482300TMPRSS6c.1488A>G (p.Ser496=)
c.1515A>G (p.Ser505=)
c.1056A>G (p.Ser352=)
22g.37073599T>GCA514482301TMPRSS6c.1488A>C (p.Ser496=)
c.1515A>C (p.Ser505=)
c.1056A>C (p.Ser352=)
dbSNP gnomAD v4
22g.37073600G>ACA411420969TMPRSS6c.1487C>T (p.Ser496Leu)
c.1514C>T (p.Ser505Leu)
c.1055C>T (p.Ser352Leu)
22g.37073600G>CCA411420971TMPRSS6c.1487C>G (p.Ser496Ter)
c.1514C>G (p.Ser505Ter)
c.1055C>G (p.Ser352Ter)
22g.37073600G>TCA411420973TMPRSS6c.1487C>A (p.Ser496Ter)
c.1514C>A (p.Ser505Ter)
c.1055C>A (p.Ser352Ter)
22g.37073601A>CCA411420975TMPRSS6c.1486T>G (p.Ser496Ala)
c.1513T>G (p.Ser505Ala)
c.1054T>G (p.Ser352Ala)
22g.37073601A>GCA411420977TMPRSS6c.1486T>C (p.Ser496Pro)
c.1513T>C (p.Ser505Pro)
c.1054T>C (p.Ser352Pro)
22g.37073601A>TCA411420979TMPRSS6c.1486T>A (p.Ser496Thr)
c.1513T>A (p.Ser505Thr)
c.1054T>A (p.Ser352Thr)
22g.37073602G>ACA514482302TMPRSS6c.1485C>T (p.Ile495=)
c.1512C>T (p.Ile504=)
c.1053C>T (p.Ile351=)
22g.37073602G>CCA411420982TMPRSS6c.1485C>G (p.Ile495Met)
c.1512C>G (p.Ile504Met)
c.1053C>G (p.Ile351Met)
22g.37073602G>TCA514482303TMPRSS6c.1485C>A (p.Ile495=)
c.1512C>A (p.Ile504=)
c.1053C>A (p.Ile351=)
22g.37073603A>CCA411420988TMPRSS6c.1484T>G (p.Ile495Ser)
c.1511T>G (p.Ile504Ser)
c.1052T>G (p.Ile351Ser)
22g.37073603A>GCA411420986TMPRSS6c.1484T>C (p.Ile495Thr)
c.1511T>C (p.Ile504Thr)
c.1052T>C (p.Ile351Thr)
22g.37073603A>TCA411420984TMPRSS6c.1484T>A (p.Ile495Asn)
c.1511T>A (p.Ile504Asn)
c.1052T>A (p.Ile351Asn)
22g.37073604T>ACA411420990TMPRSS6c.1483A>T (p.Ile495Phe)
c.1510A>T (p.Ile504Phe)
c.1051A>T (p.Ile351Phe)
22g.37073604T>CCA10215586TMPRSS6c.1483A>G (p.Ile495Val)
c.1510A>G (p.Ile504Val)
c.1051A>G (p.Ile351Val)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37073604T>GCA411420993TMPRSS6c.1483A>C (p.Ile495Leu)
c.1510A>C (p.Ile504Leu)
c.1051A>C (p.Ile351Leu)
22g.37073604T=CA2404170524TMPRSS6c.1483A= (p.Ile495=)
c.1510A= (p.Ile504=)
c.1051A= (p.Ile351=)
22g.37073605G>ACA514482304TMPRSS6c.1482C>T (p.Cys494=)
c.1509C>T (p.Cys503=)
c.1050C>T (p.Cys350=)
gnomAD v4
22g.37073605G>CCA411420995TMPRSS6c.1482C>G (p.Cys494Trp)
c.1509C>G (p.Cys503Trp)
c.1050C>G (p.Cys350Trp)
22g.37073605G>TCA411420997TMPRSS6c.1482C>A (p.Cys494Ter)
c.1509C>A (p.Cys503Ter)
c.1050C>A (p.Cys350Ter)
gnomAD v4
22g.37073606C>ACA411421003TMPRSS6c.1481G>T (p.Cys494Phe)
c.1508G>T (p.Cys503Phe)
c.1049G>T (p.Cys350Phe)
22g.37073606C>GCA411421001TMPRSS6c.1481G>C (p.Cys494Ser)
c.1508G>C (p.Cys503Ser)
c.1049G>C (p.Cys350Ser)
22g.37073606C>TCA411420999TMPRSS6c.1481G>A (p.Cys494Tyr)
c.1508G>A (p.Cys503Tyr)
c.1049G>A (p.Cys350Tyr)
22g.37073607A>CCA411421005TMPRSS6c.1480T>G (p.Cys494Gly)
c.1507T>G (p.Cys503Gly)
c.1048T>G (p.Cys350Gly)
22g.37073607A>GCA411421007TMPRSS6c.1480T>C (p.Cys494Arg)
c.1507T>C (p.Cys503Arg)
c.1048T>C (p.Cys350Arg)
22g.37073607A>TCA411421009TMPRSS6c.1480T>A (p.Cys494Ser)
c.1507T>A (p.Cys503Ser)
c.1048T>A (p.Cys350Ser)
22g.37073608T>ACA514482306TMPRSS6c.1479A>T (p.Thr493=)
c.1506A>T (p.Thr502=)
c.1047A>T (p.Thr349=)
22g.37073608T>CCA514482307TMPRSS6c.1479A>G (p.Thr493=)
c.1506A>G (p.Thr502=)
c.1047A>G (p.Thr349=)
22g.37073608T>GCA514482305TMPRSS6c.1479A>C (p.Thr493=)
c.1506A>C (p.Thr502=)
c.1047A>C (p.Thr349=)
22g.37073609G>ACA411421012TMPRSS6c.1478C>T (p.Thr493Ile)
c.1505C>T (p.Thr502Ile)
c.1046C>T (p.Thr349Ile)
gnomAD v4
22g.37073609G>CCA411421014TMPRSS6c.1478C>G (p.Thr493Arg)
c.1505C>G (p.Thr502Arg)
c.1046C>G (p.Thr349Arg)
22g.37073609G>TCA411421016TMPRSS6c.1478C>A (p.Thr493Lys)
c.1505C>A (p.Thr502Lys)
c.1046C>A (p.Thr349Lys)
22g.37073610T>ACA411421018TMPRSS6c.1477A>T (p.Thr493Ser)
c.1504A>T (p.Thr502Ser)
c.1045A>T (p.Thr349Ser)
22g.37073610T>CCA411421022TMPRSS6c.1477A>G (p.Thr493Ala)
c.1504A>G (p.Thr502Ala)
c.1045A>G (p.Thr349Ala)
22g.37073610T>GCA411421020TMPRSS6c.1477A>C (p.Thr493Pro)
c.1504A>C (p.Thr502Pro)
c.1045A>C (p.Thr349Pro)
22g.37073611G>ACA514482308TMPRSS6c.1476C>T (p.Ser492=)
c.1503C>T (p.Ser501=)
c.1044C>T (p.Ser348=)
gnomAD v4
22g.37073611G>CCA411421023TMPRSS6c.1476C>G (p.Ser492Arg)
c.1503C>G (p.Ser501Arg)
c.1044C>G (p.Ser348Arg)
22g.37073611G=CA2404170525TMPRSS6c.1476C= (p.Ser492=)
c.1503C= (p.Ser501=)
c.1044C= (p.Ser348=)
22g.37073611G>TCA10215587TMPRSS6c.1476C>A (p.Ser492Arg)
c.1503C>A (p.Ser501Arg)
c.1044C>A (p.Ser348Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37073612C>ACA411421026TMPRSS6c.1475G>T (p.Ser492Ile)
c.1502G>T (p.Ser501Ile)
c.1043G>T (p.Ser348Ile)
22g.37073612C>GCA411421028TMPRSS6c.1475G>C (p.Ser492Thr)
c.1502G>C (p.Ser501Thr)
c.1043G>C (p.Ser348Thr)
22g.37073612C>TCA411421030TMPRSS6c.1475G>A (p.Ser492Asn)
c.1502G>A (p.Ser501Asn)
c.1043G>A (p.Ser348Asn)
gnomAD v4 COSMIC
22g.37073613T>ACA411421032TMPRSS6c.1474A>T (p.Ser492Cys)
c.1501A>T (p.Ser501Cys)
c.1042A>T (p.Ser348Cys)
22g.37073613T>CCA411421034TMPRSS6c.1474A>G (p.Ser492Gly)
c.1501A>G (p.Ser501Gly)
c.1042A>G (p.Ser348Gly)
22g.37073613T>GCA411421036TMPRSS6c.1474A>C (p.Ser492Arg)
c.1501A>C (p.Ser501Arg)
c.1042A>C (p.Ser348Arg)
22g.37073614G>ACA514482309TMPRSS6c.1473C>T (p.Asp491=)
c.1500C>T (p.Asp500=)
c.1041C>T (p.Asp347=)
22g.37073614G>CCA411421037TMPRSS6c.1473C>G (p.Asp491Glu)
c.1500C>G (p.Asp500Glu)
c.1041C>G (p.Asp347Glu)
22g.37073614G>TCA411421039TMPRSS6c.1473C>A (p.Asp491Glu)
c.1500C>A (p.Asp500Glu)
c.1041C>A (p.Asp347Glu)
gnomAD v4
22g.37073615T>ACA411421041TMPRSS6c.1472A>T (p.Asp491Val)
c.1499A>T (p.Asp500Val)
c.1040A>T (p.Asp347Val)
22g.37073615T>CCA411421046TMPRSS6c.1472A>G (p.Asp491Gly)
c.1499A>G (p.Asp500Gly)
c.1040A>G (p.Asp347Gly)
gnomAD v4
22g.37073615T>GCA411421044TMPRSS6c.1472A>C (p.Asp491Ala)
c.1499A>C (p.Asp500Ala)
c.1040A>C (p.Asp347Ala)
22g.37073616C>ACA411421048TMPRSS6c.1471G>T (p.Asp491Tyr)
c.1498G>T (p.Asp500Tyr)
c.1039G>T (p.Asp347Tyr)
22g.37073616C>GCA411421052TMPRSS6c.1471G>C (p.Asp491His)
c.1498G>C (p.Asp500His)
c.1039G>C (p.Asp347His)
22g.37073616C>TCA411421050TMPRSS6c.1471G>A (p.Asp491Asn)
c.1498G>A (p.Asp500Asn)
c.1039G>A (p.Asp347Asn)
22g.37073617C>ACA411421053TMPRSS6c.1470G>T (p.Glu490Asp)
c.1497G>T (p.Glu499Asp)
c.1038G>T (p.Glu346Asp)
22g.37073617C=CA2404170526TMPRSS6c.1470G= (p.Glu490=)
c.1497G= (p.Glu499=)
c.1038G= (p.Glu346=)
22g.37073617C>GCA411421054TMPRSS6c.1470G>C (p.Glu490Asp)
c.1497G>C (p.Glu499Asp)
c.1038G>C (p.Glu346Asp)
22g.37073617C>TCA514482310TMPRSS6c.1470G>A (p.Glu490=)
c.1497G>A (p.Glu499=)
c.1038G>A (p.Glu346=)
dbSNP
22g.37073618T>ACA411421057TMPRSS6c.1469A>T (p.Glu490Val)
c.1496A>T (p.Glu499Val)
c.1037A>T (p.Glu346Val)
22g.37073618T>CCA10215588TMPRSS6c.1469A>G (p.Glu490Gly)
c.1496A>G (p.Glu499Gly)
c.1037A>G (p.Glu346Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37073618T>GCA411421060TMPRSS6c.1469A>C (p.Glu490Ala)
c.1496A>C (p.Glu499Ala)
c.1037A>C (p.Glu346Ala)
22g.37073618T=CA2404170527TMPRSS6c.1469A= (p.Glu490=)
c.1496A= (p.Glu499=)
c.1037A= (p.Glu346=)
22g.37073619C>ACA411421062TMPRSS6c.1468G>T (p.Glu490Ter)
c.1495G>T (p.Glu499Ter)
c.1036G>T (p.Glu346Ter)
22g.37073619C>GCA411421063TMPRSS6c.1468G>C (p.Glu490Gln)
c.1495G>C (p.Glu499Gln)
c.1036G>C (p.Glu346Gln)
22g.37073619C>TCA411421064TMPRSS6c.1468G>A (p.Glu490Lys)
c.1495G>A (p.Glu499Lys)
c.1036G>A (p.Glu346Lys)
22g.37073620T>ACA411421066TMPRSS6c.1467A>T (p.Lys489Asn)
c.1494A>T (p.Lys498Asn)
c.1035A>T (p.Lys345Asn)
22g.37073620T>CCA514482311TMPRSS6c.1467A>G (p.Lys489=)
c.1494A>G (p.Lys498=)
c.1035A>G (p.Lys345=)
22g.37073620T>GCA411421068TMPRSS6c.1467A>C (p.Lys489Asn)
c.1494A>C (p.Lys498Asn)
c.1035A>C (p.Lys345Asn)
22g.37073622delCA2577737694TMPRSS6c.1467del (p.Glu490ArgfsTer?)
c.1494del (p.Glu499ArgfsTer?)
c.1035del (p.Glu346ArgfsTer?)
22g.37073621_37073622delCA2656483366TMPRSS6c.1466_1467del (p.Lys489ArgfsTer13)
c.1493_1494del (p.Lys498ArgfsTer13)
c.1034_1035del (p.Lys345ArgfsTer13)
gnomAD v4
22g.37073621T>ACA411421069TMPRSS6c.1466A>T (p.Lys489Ile)
c.1493A>T (p.Lys498Ile)
c.1034A>T (p.Lys345Ile)
22g.37073621T>CCA411421071TMPRSS6c.1466A>G (p.Lys489Arg)
c.1493A>G (p.Lys498Arg)
c.1034A>G (p.Lys345Arg)
22g.37073621T>GCA411421073TMPRSS6c.1466A>C (p.Lys489Thr)
c.1493A>C (p.Lys498Thr)
c.1034A>C (p.Lys345Thr)
22g.37073622T>ACA411421078TMPRSS6c.1465A>T (p.Lys489Ter)
c.1492A>T (p.Lys498Ter)
c.1033A>T (p.Lys345Ter)
22g.37073622T>CCA411421075TMPRSS6c.1465A>G (p.Lys489Glu)
c.1492A>G (p.Lys498Glu)
c.1033A>G (p.Lys345Glu)
gnomAD v4
22g.37073622T>GCA411421077TMPRSS6c.1465A>C (p.Lys489Gln)
c.1492A>C (p.Lys498Gln)
c.1033A>C (p.Lys345Gln)
gnomAD v4
22g.37073623G>ACA514482312TMPRSS6c.1464C>T (p.Cys488=)
c.1491C>T (p.Cys497=)
c.1032C>T (p.Cys344=)
22g.37073623G>CCA411421080TMPRSS6c.1464C>G (p.Cys488Trp)
c.1491C>G (p.Cys497Trp)
c.1032C>G (p.Cys344Trp)
22g.37073623G>TCA411421082TMPRSS6c.1464C>A (p.Cys488Ter)
c.1491C>A (p.Cys497Ter)
c.1032C>A (p.Cys344Ter)
22g.37073624C>ACA411421084TMPRSS6c.1463G>T (p.Cys488Phe)
c.1490G>T (p.Cys497Phe)
c.1031G>T (p.Cys344Phe)
COSMIC
22g.37073624C>GCA411421086TMPRSS6c.1463G>C (p.Cys488Ser)
c.1490G>C (p.Cys497Ser)
c.1031G>C (p.Cys344Ser)
22g.37073624C>TCA411421088TMPRSS6c.1463G>A (p.Cys488Tyr)
c.1490G>A (p.Cys497Tyr)
c.1031G>A (p.Cys344Tyr)
22g.37073625A=CA2404170528TMPRSS6c.1462T= (p.Cys488=)
c.1489T= (p.Cys497=)
c.1030T= (p.Cys344=)
22g.37073625A>CCA411421090TMPRSS6c.1462T>G (p.Cys488Gly)
c.1489T>G (p.Cys497Gly)
c.1030T>G (p.Cys344Gly)
22g.37073625A>GCA10215589TMPRSS6c.1462T>C (p.Cys488Arg)
c.1489T>C (p.Cys497Arg)
c.1030T>C (p.Cys344Arg)
dbSNP ExAC gnomAD v3 gnomAD v4
22g.37073625A>TCA411421093TMPRSS6c.1462T>A (p.Cys488Ser)
c.1489T>A (p.Cys497Ser)
c.1030T>A (p.Cys344Ser)
22g.37073626C>ACA411421094TMPRSS6c.1461G>T (p.Gln487His)
c.1488G>T (p.Gln496His)
c.1029G>T (p.Gln343His)
22g.37073626C>GCA411421095TMPRSS6c.1461G>C (p.Gln487His)
c.1488G>C (p.Gln496His)
c.1029G>C (p.Gln343His)
22g.37073626C>TCA514482313TMPRSS6c.1461G>A (p.Gln487=)
c.1488G>A (p.Gln496=)
c.1029G>A (p.Gln343=)
22g.37073627T>ACA411421102TMPRSS6c.1460A>T (p.Gln487Leu)
c.1487A>T (p.Gln496Leu)
c.1028A>T (p.Gln343Leu)
22g.37073627T>CCA411421104TMPRSS6c.1460A>G (p.Gln487Arg)
c.1487A>G (p.Gln496Arg)
c.1028A>G (p.Gln343Arg)
22g.37073627T>GCA411421097TMPRSS6c.1460A>C (p.Gln487Pro)
c.1487A>C (p.Gln496Pro)
c.1028A>C (p.Gln343Pro)
22g.37073628G>ACA411421106TMPRSS6c.1459C>T (p.Gln487Ter)
c.1486C>T (p.Gln496Ter)
c.1027C>T (p.Gln343Ter)
dbSNP gnomAD v3 gnomAD v4 COSMIC
22g.37073628G>CCA411421108TMPRSS6c.1459C>G (p.Gln487Glu)
c.1486C>G (p.Gln496Glu)
c.1027C>G (p.Gln343Glu)
22g.37073628G=CA2404170529TMPRSS6c.1459C= (p.Gln487=)
c.1486C= (p.Gln496=)
c.1027C= (p.Gln343=)
22g.37073628G>TCA411421110TMPRSS6c.1459C>A (p.Gln487Lys)
c.1486C>A (p.Gln496Lys)
c.1027C>A (p.Gln343Lys)
22g.37073629G>ACA514482314TMPRSS6c.1458C>T (p.Phe486=)
c.1485C>T (p.Phe495=)
c.1026C>T (p.Phe342=)
22g.37073629G>CCA10215590TMPRSS6c.1458C>G (p.Phe486Leu)
c.1485C>G (p.Phe495Leu)
c.1026C>G (p.Phe342Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.37073629G=CA2404170530TMPRSS6c.1458C= (p.Phe486=)
c.1485C= (p.Phe495=)
c.1026C= (p.Phe342=)
22g.37073629G>TCA411421113TMPRSS6c.1458C>A (p.Phe486Leu)
c.1485C>A (p.Phe495Leu)
c.1026C>A (p.Phe342Leu)
dbSNP gnomAD v4
22g.37073630A>CCA411421115TMPRSS6c.1457T>G (p.Phe486Cys)
c.1484T>G (p.Phe495Cys)
c.1025T>G (p.Phe342Cys)
22g.37073630A>GCA411421117TMPRSS6c.1457T>C (p.Phe486Ser)
c.1484T>C (p.Phe495Ser)
c.1025T>C (p.Phe342Ser)
22g.37073630A>TCA411421119TMPRSS6c.1457T>A (p.Phe486Tyr)
c.1484T>A (p.Phe495Tyr)
c.1025T>A (p.Phe342Tyr)
22g.37073631A>CCA411421121TMPRSS6c.1456T>G (p.Phe486Val)
c.1483T>G (p.Phe495Val)
c.1024T>G (p.Phe342Val)
22g.37073631A>GCA411421123TMPRSS6c.1456T>C (p.Phe486Leu)
c.1483T>C (p.Phe495Leu)
c.1024T>C (p.Phe342Leu)
22g.37073631A>TCA411421125TMPRSS6c.1456T>A (p.Phe486Ile)
c.1483T>A (p.Phe495Ile)
c.1024T>A (p.Phe342Ile)
22g.37073632T>ACA514482315TMPRSS6c.1455A>T (p.Thr485=)
c.1482A>T (p.Thr494=)
c.1023A>T (p.Thr341=)
22g.37073632T>CCA514482317TMPRSS6c.1455A>G (p.Thr485=)
c.1482A>G (p.Thr494=)
c.1023A>G (p.Thr341=)
COSMIC
22g.37073632T>GCA514482316TMPRSS6c.1455A>C (p.Thr485=)
c.1482A>C (p.Thr494=)
c.1023A>C (p.Thr341=)
22g.37073633G>ACA10215591TMPRSS6c.1454C>T (p.Thr485Ile)
c.1481C>T (p.Thr494Ile)
c.1022C>T (p.Thr341Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37073633G>CCA411421130TMPRSS6c.1454C>G (p.Thr485Arg)
c.1481C>G (p.Thr494Arg)
c.1022C>G (p.Thr341Arg)
22g.37073633G=CA2404170531TMPRSS6c.1454C= (p.Thr485=)
c.1481C= (p.Thr494=)
c.1022C= (p.Thr341=)
22g.37073633G>TCA411421127TMPRSS6c.1454C>A (p.Thr485Lys)
c.1481C>A (p.Thr494Lys)
c.1022C>A (p.Thr341Lys)
22g.37073634T>ACA411421132TMPRSS6c.1453A>T (p.Thr485Ser)
c.1480A>T (p.Thr494Ser)
c.1021A>T (p.Thr341Ser)
22g.37073634T>CCA411421134TMPRSS6c.1453A>G (p.Thr485Ala)
c.1480A>G (p.Thr494Ala)
c.1021A>G (p.Thr341Ala)
22g.37073634T>GCA411421136TMPRSS6c.1453A>C (p.Thr485Pro)
c.1480A>C (p.Thr494Pro)
c.1021A>C (p.Thr341Pro)
22g.37073635G>ACA514482318TMPRSS6c.1452C>T (p.Ala484=)
c.1479C>T (p.Ala493=)
c.1020C>T (p.Ala340=)
22g.37073635G>CCA514482319TMPRSS6c.1452C>G (p.Ala484=)
c.1479C>G (p.Ala493=)
c.1020C>G (p.Ala340=)
22g.37073635G>TCA514482320TMPRSS6c.1452C>A (p.Ala484=)
c.1479C>A (p.Ala493=)
c.1020C>A (p.Ala340=)
gnomAD v4
22g.37073636G>ACA411421138TMPRSS6c.1451C>T (p.Ala484Val)
c.1478C>T (p.Ala493Val)
c.1019C>T (p.Ala340Val)
22g.37073636G>CCA411421140TMPRSS6c.1451C>G (p.Ala484Gly)
c.1478C>G (p.Ala493Gly)
c.1019C>G (p.Ala340Gly)
COSMIC COSMIC
22g.37073636G>TCA411421141TMPRSS6c.1451C>A (p.Ala484Asp)
c.1478C>A (p.Ala493Asp)
c.1019C>A (p.Ala340Asp)
22g.37073637C>ACA411421143TMPRSS6c.1450G>T (p.Ala484Ser)
c.1477G>T (p.Ala493Ser)
c.1018G>T (p.Ala340Ser)
22g.37073637C>GCA411421147TMPRSS6c.1450G>C (p.Ala484Pro)
c.1477G>C (p.Ala493Pro)
c.1018G>C (p.Ala340Pro)
22g.37073637C>TCA411421145TMPRSS6c.1450G>A (p.Ala484Thr)
c.1477G>A (p.Ala493Thr)
c.1018G>A (p.Ala340Thr)
22g.37073638T>ACA411421149TMPRSS6c.1449A>T (p.Arg483Ser)
c.1476A>T (p.Arg492Ser)
c.1017A>T (p.Arg339Ser)
22g.37073638T>CCA514482321TMPRSS6c.1449A>G (p.Arg483=)
c.1476A>G (p.Arg492=)
c.1017A>G (p.Arg339=)
gnomAD v4
22g.37073638T>GCA411421151TMPRSS6c.1449A>C (p.Arg483Ser)
c.1476A>C (p.Arg492Ser)
c.1017A>C (p.Arg339Ser)
22g.37073639C>ACA411421153TMPRSS6c.1448G>T (p.Arg483Ile)
c.1475G>T (p.Arg492Ile)
c.1016G>T (p.Arg339Ile)
22g.37073639C=CA2404170532TMPRSS6c.1448G= (p.Arg483=)
c.1475G= (p.Arg492=)
c.1016G= (p.Arg339=)
22g.37073639C>GCA411421154TMPRSS6c.1448G>C (p.Arg483Thr)
c.1475G>C (p.Arg492Thr)
c.1016G>C (p.Arg339Thr)
22g.37073639C>TCA411421155TMPRSS6c.1448G>A (p.Arg483Lys)
c.1475G>A (p.Arg492Lys)
c.1016G>A (p.Arg339Lys)
dbSNP gnomAD v4
22g.37073640T>ACA411421159TMPRSS6c.1447A>T (p.Arg483Ter)
c.1474A>T (p.Arg492Ter)
c.1015A>T (p.Arg339Ter)
22g.37073640T>CCA411421157TMPRSS6c.1447A>G (p.Arg483Gly)
c.1474A>G (p.Arg492Gly)
c.1015A>G (p.Arg339Gly)
22g.37073640T>GCA514482322TMPRSS6c.1447A>C (p.Arg483=)
c.1474A>C (p.Arg492=)
c.1015A>C (p.Arg339=)
22g.37073641G>ACA514482323TMPRSS6c.1446C>T (p.Cys482=)
c.1473C>T (p.Cys491=)
c.1014C>T (p.Cys338=)
22g.37073641G>CCA411421161TMPRSS6c.1446C>G (p.Cys482Trp)
c.1473C>G (p.Cys491Trp)
c.1014C>G (p.Cys338Trp)
22g.37073641G>TCA411421163TMPRSS6c.1446C>A (p.Cys482Ter)
c.1473C>A (p.Cys491Ter)
c.1014C>A (p.Cys338Ter)
22g.37073642C>ACA411421165TMPRSS6c.1445G>T (p.Cys482Phe)
c.1472G>T (p.Cys491Phe)
c.1013G>T (p.Cys338Phe)
gnomAD v4
22g.37073642C>GCA411421167TMPRSS6c.1445G>C (p.Cys482Ser)
c.1472G>C (p.Cys491Ser)
c.1013G>C (p.Cys338Ser)
22g.37073642C>TCA411421169TMPRSS6c.1445G>A (p.Cys482Tyr)
c.1472G>A (p.Cys491Tyr)
c.1013G>A (p.Cys338Tyr)
22g.37073643A=CA2404170533TMPRSS6c.1444T= (p.Cys482=)
c.1471T= (p.Cys491=)
c.1012T= (p.Cys338=)
22g.37073643A>CCA411421171TMPRSS6c.1444T>G (p.Cys482Gly)
c.1471T>G (p.Cys491Gly)
c.1012T>G (p.Cys338Gly)
dbSNP
22g.37073643A>GCA411421173TMPRSS6c.1444T>C (p.Cys482Arg)
c.1471T>C (p.Cys491Arg)
c.1012T>C (p.Cys338Arg)
22g.37073643A>TCA411421174TMPRSS6c.1444T>A (p.Cys482Ser)
c.1471T>A (p.Cys491Ser)
c.1012T>A (p.Cys338Ser)
22g.37073644A=CA2404170534TMPRSS6c.1443T= (p.Val481=)
c.1470T= (p.Val490=)
c.1011T= (p.Val337=)
22g.37073644A>CCA514482324TMPRSS6c.1443T>G (p.Val481=)
c.1470T>G (p.Val490=)
c.1011T>G (p.Val337=)
22g.37073644A>GCA514482325TMPRSS6c.1443T>C (p.Val481=)
c.1470T>C (p.Val490=)
c.1011T>C (p.Val337=)
22g.37073644A>TCA514482326TMPRSS6c.1443T>A (p.Val481=)
c.1470T>A (p.Val490=)
c.1011T>A (p.Val337=)
dbSNP gnomAD v2 gnomAD v4
22g.37073645A>CCA411421175TMPRSS6c.1442T>G (p.Val481Gly)
c.1469T>G (p.Val490Gly)
c.1010T>G (p.Val337Gly)
22g.37073645A>GCA411421176TMPRSS6c.1442T>C (p.Val481Ala)
c.1469T>C (p.Val490Ala)
c.1010T>C (p.Val337Ala)
22g.37073645A>TCA411421178TMPRSS6c.1442T>A (p.Val481Asp)
c.1469T>A (p.Val490Asp)
c.1010T>A (p.Val337Asp)
22g.37073646C>ACA411421180TMPRSS6c.1442-1G>T (n.1442-1G>T)
c.1469-1G>T (n.1469-1G>T)
c.1010-1G>T (n.1010-1G>T)
22g.37073646C>GCA411421182TMPRSS6c.1442-1G>C (n.1442-1G>C)
c.1469-1G>C (n.1469-1G>C)
c.1010-1G>C (n.1010-1G>C)
22g.37073646C>TCA411421183TMPRSS6c.1442-1G>A (n.1442-1G>A)
c.1469-1G>A (n.1469-1G>A)
c.1010-1G>A (n.1010-1G>A)
22g.37073647T>ACA411421189TMPRSS6c.1442-2A>T (n.1442-2A>T)
c.1469-2A>T (n.1469-2A>T)
c.1010-2A>T (n.1010-2A>T)
gnomAD v4
22g.37073647T>CCA411421187TMPRSS6c.1442-2A>G (n.1442-2A>G)
c.1469-2A>G (n.1469-2A>G)
c.1010-2A>G (n.1010-2A>G)
gnomAD v4
22g.37073647T>GCA411421186TMPRSS6c.1442-2A>C (n.1442-2A>C)
c.1469-2A>C (n.1469-2A>C)
c.1010-2A>C (n.1010-2A>C)
22g.37073651_37073652delCA2577737695TMPRSS6c.1442-3_1442-2del (n.1442-3_1442-2del)
c.1469-3_1469-2del (n.1469-3_1469-2del)
c.1010-3_1010-2del (n.1010-3_1010-2del)
gnomAD v4
22g.37073649_37073652delCA2656483386TMPRSS6c.1442-5_1442-2del (n.1442-5_1442-2del)
c.1469-5_1469-2del (n.1469-5_1469-2del)
c.1010-5_1010-2del (n.1010-5_1010-2del)
gnomAD v4
22g.37073648G=CA2404170535TMPRSS6c.1442-3C= (n.1442-3C=)
c.1469-3C= (n.1469-3C=)
c.1010-3C= (n.1010-3C=)
22g.37073648G>TCA639176800TMPRSS6c.1442-3C>A (n.1442-3C>A)
c.1469-3C>A (n.1469-3C>A)
c.1010-3C>A (n.1010-3C>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.37073650G>ACA10215592TMPRSS6c.1442-5C>T (n.1442-5C>T)
c.1469-5C>T (n.1469-5C>T)
c.1010-5C>T (n.1010-5C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.37073650G>CCA2656483391TMPRSS6c.1442-5C>G (n.1442-5C>G)
c.1469-5C>G (n.1469-5C>G)
c.1010-5C>G (n.1010-5C>G)
gnomAD v4
22g.37073650G=CA2404170536TMPRSS6c.1442-5C= (n.1442-5C=)
c.1469-5C= (n.1469-5C=)
c.1010-5C= (n.1010-5C=)
22g.37073650G>TCA2577737696TMPRSS6c.1442-5C>A (n.1442-5C>A)
c.1469-5C>A (n.1469-5C>A)
c.1010-5C>A (n.1010-5C>A)
gnomAD v4
22g.37073655delCA2577737697TMPRSS6c.1442-7del (n.1442-7del)
c.1469-7del (n.1469-7del)
c.1010-7del (n.1010-7del)
22g.37073653G>ACA2577737698TMPRSS6c.1442-8C>T (n.1442-8C>T)
c.1469-8C>T (n.1469-8C>T)
c.1010-8C>T (n.1010-8C>T)
gnomAD v4
22g.37073653G>TCA2656483395TMPRSS6c.1442-8C>A (n.1442-8C>A)
c.1469-8C>A (n.1469-8C>A)
c.1010-8C>A (n.1010-8C>A)
gnomAD v4

Number of alleles fetched