Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.37073553C>A | CA411420761 | TMPRSS6 | c.1534G>T (p.Asp512Tyr) c.1561G>T (p.Asp521Tyr) c.1102G>T (p.Asp368Tyr) | |
22 | g.37073553C= | CA2404170505 | TMPRSS6 | c.1534G= (p.Asp512=) c.1561G= (p.Asp521=) c.1102G= (p.Asp368=) | |
22 | g.37073553C>G | CA411420763 | TMPRSS6 | c.1534G>C (p.Asp512His) c.1561G>C (p.Asp521His) c.1102G>C (p.Asp368His) | |
22 | g.37073553C>T | CA114990 | TMPRSS6 | c.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 |
22 | g.37073554G>A | CA10215573 | TMPRSS6 | c.1533C>T (p.Ser511=) c.1560C>T (p.Ser520=) c.1101C>T (p.Ser367=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37073554G>C | CA411420768 | TMPRSS6 | c.1533C>G (p.Ser511Arg) c.1560C>G (p.Ser520Arg) c.1101C>G (p.Ser367Arg) | |
22 | g.37073554G= | CA2404170506 | TMPRSS6 | c.1533C= (p.Ser511=) c.1560C= (p.Ser520=) c.1101C= (p.Ser367=) | |
22 | g.37073554G>T | CA411420769 | TMPRSS6 | c.1533C>A (p.Ser511Arg) c.1560C>A (p.Ser520Arg) c.1101C>A (p.Ser367Arg) | |
22 | g.37073555C>A | CA411420772 | TMPRSS6 | c.1532G>T (p.Ser511Ile) c.1559G>T (p.Ser520Ile) c.1100G>T (p.Ser367Ile) | |
22 | g.37073555C= | CA2404170507 | TMPRSS6 | c.1532G= (p.Ser511=) c.1559G= (p.Ser520=) c.1100G= (p.Ser367=) | |
22 | g.37073555C>G | CA411420774 | TMPRSS6 | c.1532G>C (p.Ser511Thr) c.1559G>C (p.Ser520Thr) c.1100G>C (p.Ser367Thr) | |
22 | g.37073555C>T | CA10215574 | TMPRSS6 | c.1532G>A (p.Ser511Asn) c.1559G>A (p.Ser520Asn) c.1100G>A (p.Ser367Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37073556T>A | CA411420778 | TMPRSS6 | c.1531A>T (p.Ser511Cys) c.1558A>T (p.Ser520Cys) c.1099A>T (p.Ser367Cys) | |
22 | g.37073556T>C | CA411420780 | TMPRSS6 | c.1531A>G (p.Ser511Gly) c.1558A>G (p.Ser520Gly) c.1099A>G (p.Ser367Gly) | |
22 | g.37073556T>G | CA411420782 | TMPRSS6 | c.1531A>C (p.Ser511Arg) c.1558A>C (p.Ser520Arg) c.1099A>C (p.Ser367Arg) | |
22 | g.37073557G>A | CA514482272 | TMPRSS6 | c.1530C>T (p.Gly510=) c.1557C>T (p.Gly519=) c.1098C>T (p.Gly366=) | gnomAD v4 |
22 | g.37073557G>C | CA514482273 | TMPRSS6 | c.1530C>G (p.Gly510=) c.1557C>G (p.Gly519=) c.1098C>G (p.Gly366=) | |
22 | g.37073557G>T | CA514482274 | TMPRSS6 | c.1530C>A (p.Gly510=) c.1557C>A (p.Gly519=) c.1098C>A (p.Gly366=) | |
22 | g.37073558C>A | CA10215575 | TMPRSS6 | c.1529G>T (p.Gly510Val) c.1556G>T (p.Gly519Val) c.1097G>T (p.Gly366Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37073558C= | CA2404170508 | TMPRSS6 | c.1529G= (p.Gly510=) c.1556G= (p.Gly519=) c.1097G= (p.Gly366=) | |
22 | g.37073558C>G | CA411420787 | TMPRSS6 | c.1529G>C (p.Gly510Ala) c.1556G>C (p.Gly519Ala) c.1097G>C (p.Gly366Ala) | |
22 | g.37073558C>T | CA411420785 | TMPRSS6 | c.1529G>A (p.Gly510Asp) c.1556G>A (p.Gly519Asp) c.1097G>A (p.Gly366Asp) | gnomAD v4 COSMIC COSMIC |
22 | g.37073559C>A | CA411420790 | TMPRSS6 | c.1528G>T (p.Gly510Cys) c.1555G>T (p.Gly519Cys) c.1096G>T (p.Gly366Cys) | |
22 | g.37073559C= | CA2404170509 | TMPRSS6 | c.1528G= (p.Gly510=) c.1555G= (p.Gly519=) c.1096G= (p.Gly366=) | |
22 | g.37073559C>G | CA411420792 | TMPRSS6 | c.1528G>C (p.Gly510Arg) c.1555G>C (p.Gly519Arg) c.1096G>C (p.Gly366Arg) | gnomAD v4 |
22 | g.37073559C>T | CA10215576 | TMPRSS6 | c.1528G>A (p.Gly510Ser) c.1555G>A (p.Gly519Ser) c.1096G>A (p.Gly366Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37073560G>A | CA10215577 | TMPRSS6 | c.1527C>T (p.Asn509=) c.1554C>T (p.Asn518=) c.1095C>T (p.Asn365=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
22 | g.37073560G>C | CA10215578 | TMPRSS6 | c.1527C>G (p.Asn509Lys) c.1554C>G (p.Asn518Lys) c.1095C>G (p.Asn365Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37073560G= | CA2404170510 | TMPRSS6 | c.1527C= (p.Asn509=) c.1554C= (p.Asn518=) c.1095C= (p.Asn365=) | |
22 | g.37073560G>T | CA411420795 | TMPRSS6 | c.1527C>A (p.Asn509Lys) c.1554C>A (p.Asn518Lys) c.1095C>A (p.Asn365Lys) | gnomAD v4 |
22 | g.37073561T>A | CA411420798 | TMPRSS6 | c.1526A>T (p.Asn509Ile) c.1553A>T (p.Asn518Ile) c.1094A>T (p.Asn365Ile) | |
22 | g.37073561T>C | CA411420803 | TMPRSS6 | c.1526A>G (p.Asn509Ser) c.1553A>G (p.Asn518Ser) c.1094A>G (p.Asn365Ser) | |
22 | g.37073561T>G | CA411420801 | TMPRSS6 | c.1526A>C (p.Asn509Thr) c.1553A>C (p.Asn518Thr) c.1094A>C (p.Asn365Thr) | |
22 | g.37073562T>A | CA411420805 | TMPRSS6 | c.1525A>T (p.Asn509Tyr) c.1552A>T (p.Asn518Tyr) c.1093A>T (p.Asn365Tyr) | |
22 | g.37073562T>C | CA411420809 | TMPRSS6 | c.1525A>G (p.Asn509Asp) c.1552A>G (p.Asn518Asp) c.1093A>G (p.Asn365Asp) | |
22 | g.37073562T>G | CA411420807 | TMPRSS6 | c.1525A>C (p.Asn509His) c.1552A>C (p.Asn518His) c.1093A>C (p.Asn365His) | gnomAD v4 |
22 | g.37073563G>A | CA514482275 | TMPRSS6 | c.1524C>T (p.Leu508=) c.1551C>T (p.Leu517=) c.1092C>T (p.Leu364=) | |
22 | g.37073563G>C | CA514482276 | TMPRSS6 | c.1524C>G (p.Leu508=) c.1551C>G (p.Leu517=) c.1092C>G (p.Leu364=) | |
22 | g.37073563G>T | CA514482277 | TMPRSS6 | c.1524C>A (p.Leu508=) c.1551C>A (p.Leu517=) c.1092C>A (p.Leu364=) | COSMIC |
22 | g.37073564A>C | CA411420811 | TMPRSS6 | c.1523T>G (p.Leu508Arg) c.1550T>G (p.Leu517Arg) c.1091T>G (p.Leu364Arg) | |
22 | g.37073564A>G | CA411420813 | TMPRSS6 | c.1523T>C (p.Leu508Pro) c.1550T>C (p.Leu517Pro) c.1091T>C (p.Leu364Pro) | |
22 | g.37073564A>T | CA411420815 | TMPRSS6 | c.1523T>A (p.Leu508His) c.1550T>A (p.Leu517His) c.1091T>A (p.Leu364His) | |
22 | g.37073565G>A | CA411420818 | TMPRSS6 | c.1522C>T (p.Leu508Phe) c.1549C>T (p.Leu517Phe) c.1090C>T (p.Leu364Phe) | gnomAD v4 |
22 | g.37073565G>C | CA411420820 | TMPRSS6 | c.1522C>G (p.Leu508Val) c.1549C>G (p.Leu517Val) c.1090C>G (p.Leu364Val) | |
22 | g.37073565G>T | CA411420821 | TMPRSS6 | c.1522C>A (p.Leu508Ile) c.1549C>A (p.Leu517Ile) c.1090C>A (p.Leu364Ile) | |
22 | g.37073566A>C | CA411420826 | TMPRSS6 | c.1521T>G (p.Cys507Trp) c.1548T>G (p.Cys516Trp) c.1089T>G (p.Cys363Trp) | |
22 | g.37073566A>G | CA514482278 | TMPRSS6 | c.1521T>C (p.Cys507=) c.1548T>C (p.Cys516=) c.1089T>C (p.Cys363=) | |
22 | g.37073566A>T | CA411420824 | TMPRSS6 | c.1521T>A (p.Cys507Ter) c.1548T>A (p.Cys516Ter) c.1089T>A (p.Cys363Ter) | |
22 | g.37073567C>A | CA411420828 | TMPRSS6 | c.1520G>T (p.Cys507Phe) c.1547G>T (p.Cys516Phe) c.1088G>T (p.Cys363Phe) | |
22 | g.37073567C= | CA2404170511 | TMPRSS6 | c.1520G= (p.Cys507=) c.1547G= (p.Cys516=) c.1088G= (p.Cys363=) | |
22 | g.37073567C>G | CA411420830 | TMPRSS6 | c.1520G>C (p.Cys507Ser) c.1547G>C (p.Cys516Ser) c.1088G>C (p.Cys363Ser) | |
22 | g.37073567C>T | CA10215579 | TMPRSS6 | c.1520G>A (p.Cys507Tyr) c.1547G>A (p.Cys516Tyr) c.1088G>A (p.Cys363Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37073568A>C | CA411420832 | TMPRSS6 | c.1519T>G (p.Cys507Gly) c.1546T>G (p.Cys516Gly) c.1087T>G (p.Cys363Gly) | |
22 | g.37073568A>G | CA411420834 | TMPRSS6 | c.1519T>C (p.Cys507Arg) c.1546T>C (p.Cys516Arg) c.1087T>C (p.Cys363Arg) | |
22 | g.37073568A>T | CA411420836 | TMPRSS6 | c.1519T>A (p.Cys507Ser) c.1546T>A (p.Cys516Ser) c.1087T>A (p.Cys363Ser) | |
22 | g.37073569A= | CA2404170512 | TMPRSS6 | c.1518T= (p.Asp506=) c.1545T= (p.Asp515=) c.1086T= (p.Asp362=) | |
22 | g.37073569A>C | CA411420837 | TMPRSS6 | c.1518T>G (p.Asp506Glu) c.1545T>G (p.Asp515Glu) c.1086T>G (p.Asp362Glu) | |
22 | g.37073569A>G | CA10215580 | TMPRSS6 | c.1518T>C (p.Asp506=) c.1545T>C (p.Asp515=) c.1086T>C (p.Asp362=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37073569A>T | CA411420838 | TMPRSS6 | c.1518T>A (p.Asp506Glu) c.1545T>A (p.Asp515Glu) c.1086T>A (p.Asp362Glu) | |
22 | g.37073570T>A | CA411420841 | TMPRSS6 | c.1517A>T (p.Asp506Val) c.1544A>T (p.Asp515Val) c.1085A>T (p.Asp362Val) | |
22 | g.37073570T>C | CA411420842 | TMPRSS6 | c.1517A>G (p.Asp506Gly) c.1544A>G (p.Asp515Gly) c.1085A>G (p.Asp362Gly) | |
22 | g.37073570T>G | CA411420844 | TMPRSS6 | c.1517A>C (p.Asp506Ala) c.1544A>C (p.Asp515Ala) c.1085A>C (p.Asp362Ala) | |
22 | g.37073570_37073584delinsTCAGGCTGCCCATCA | CA2404170513 | TMPRSS6 | c.1503_1517delinsTGATGGGCAGCCTGA (p.Cys501=) c.1530_1544delinsTGATGGGCAGCCTGA (p.Cys510=) c.1071_1085delinsTGATGGGCAGCCTGA (p.Cys357=) | |
22 | g.37073571C>A | CA411420846 | TMPRSS6 | c.1516G>T (p.Asp506Tyr) c.1543G>T (p.Asp515Tyr) c.1084G>T (p.Asp362Tyr) | |
22 | g.37073571C= | CA2404170514 | TMPRSS6 | c.1516G= (p.Asp506=) c.1543G= (p.Asp515=) c.1084G= (p.Asp362=) | |
22 | g.37073571C>G | CA411420849 | TMPRSS6 | c.1516G>C (p.Asp506His) c.1543G>C (p.Asp515His) c.1084G>C (p.Asp362His) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37073571C>T | CA411420850 | TMPRSS6 | c.1516G>A (p.Asp506Asn) c.1543G>A (p.Asp515Asn) c.1084G>A (p.Asp362Asn) | |
22 | g.37073574_37073587del | CA1025527506 | TMPRSS6 | c.1503_1516del (p.Cys501Ter) c.1530_1543del (p.Cys510Ter) c.1071_1084del (p.Cys357Ter) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37073572A>C | CA514482279 | TMPRSS6 | c.1515T>G (p.Pro505=) c.1542T>G (p.Pro514=) c.1083T>G (p.Pro361=) | |
22 | g.37073572A>G | CA514482280 | TMPRSS6 | c.1515T>C (p.Pro505=) c.1542T>C (p.Pro514=) c.1083T>C (p.Pro361=) | |
22 | g.37073572A>T | CA514482281 | TMPRSS6 | c.1515T>A (p.Pro505=) c.1542T>A (p.Pro514=) c.1083T>A (p.Pro361=) | |
22 | g.37073573G>A | CA411420853 | TMPRSS6 | c.1514C>T (p.Pro505Leu) c.1541C>T (p.Pro514Leu) c.1082C>T (p.Pro361Leu) | |
22 | g.37073573G>C | CA411420855 | TMPRSS6 | c.1514C>G (p.Pro505Arg) c.1541C>G (p.Pro514Arg) c.1082C>G (p.Pro361Arg) | |
22 | g.37073573G>T | CA411420857 | TMPRSS6 | c.1514C>A (p.Pro505His) c.1541C>A (p.Pro514His) c.1082C>A (p.Pro361His) | |
22 | g.37073574del | CA514482282 | TMPRSS6 | c.1514del (p.Pro505LeufsTer?) c.1541del (p.Pro514LeufsTer?) c.1082del (p.Pro361LeufsTer?) | gnomAD v4 |
22 | g.37073574G>A | CA411420858 | TMPRSS6 | c.1513C>T (p.Pro505Ser) c.1540C>T (p.Pro514Ser) c.1081C>T (p.Pro361Ser) | gnomAD v4 |
22 | g.37073574G>C | CA411420860 | TMPRSS6 | c.1513C>G (p.Pro505Ala) c.1540C>G (p.Pro514Ala) c.1081C>G (p.Pro361Ala) | |
22 | g.37073574G>T | CA411420862 | TMPRSS6 | c.1513C>A (p.Pro505Thr) c.1540C>A (p.Pro514Thr) c.1081C>A (p.Pro361Thr) | |
22 | g.37073576_37073578dup | CA2656483284 | TMPRSS6 | c.1511_1513dup (p.Gln504_Pro505insGln) c.1538_1540dup (p.Gln513_Pro514insGln) c.1079_1081dup (p.Gln360_Pro361insGln) | gnomAD v4 |
22 | g.37073575C>A | CA411420864 | TMPRSS6 | c.1512G>T (p.Gln504His) c.1539G>T (p.Gln513His) c.1080G>T (p.Gln360His) | |
22 | g.37073575C>G | CA411420866 | TMPRSS6 | c.1512G>C (p.Gln504His) c.1539G>C (p.Gln513His) c.1080G>C (p.Gln360His) | gnomAD v4 |
22 | g.37073575C>T | CA514482283 | TMPRSS6 | c.1512G>A (p.Gln504=) c.1539G>A (p.Gln513=) c.1080G>A (p.Gln360=) | |
22 | g.37073576T>A | CA411420868 | TMPRSS6 | c.1511A>T (p.Gln504Leu) c.1538A>T (p.Gln513Leu) c.1079A>T (p.Gln360Leu) | |
22 | g.37073576T>C | CA411420870 | TMPRSS6 | c.1511A>G (p.Gln504Arg) c.1538A>G (p.Gln513Arg) c.1079A>G (p.Gln360Arg) | gnomAD v4 |
22 | g.37073576T>G | CA411420872 | TMPRSS6 | c.1511A>C (p.Gln504Pro) c.1538A>C (p.Gln513Pro) c.1079A>C (p.Gln360Pro) | |
22 | g.37073577G>A | CA411420875 | TMPRSS6 | c.1510C>T (p.Gln504Ter) c.1537C>T (p.Gln513Ter) c.1078C>T (p.Gln360Ter) | |
22 | g.37073577G>C | CA411420876 | TMPRSS6 | c.1510C>G (p.Gln504Glu) c.1537C>G (p.Gln513Glu) c.1078C>G (p.Gln360Glu) | |
22 | g.37073577G= | CA2404170515 | TMPRSS6 | c.1510C= (p.Gln504=) c.1537C= (p.Gln513=) c.1078C= (p.Gln360=) | |
22 | g.37073577G>T | CA411420878 | TMPRSS6 | c.1510C>A (p.Gln504Lys) c.1537C>A (p.Gln513Lys) c.1078C>A (p.Gln360Lys) | dbSNP gnomAD v4 |
22 | g.37073578C>A | CA514482284 | TMPRSS6 | c.1509G>T (p.Gly503=) c.1536G>T (p.Gly512=) c.1077G>T (p.Gly359=) | |
22 | g.37073578C>G | CA514482285 | TMPRSS6 | c.1509G>C (p.Gly503=) c.1536G>C (p.Gly512=) c.1077G>C (p.Gly359=) | |
22 | g.37073578C>T | CA514482286 | TMPRSS6 | c.1509G>A (p.Gly503=) c.1536G>A (p.Gly512=) c.1077G>A (p.Gly359=) | |
22 | g.37073579C>A | CA411420884 | TMPRSS6 | c.1508G>T (p.Gly503Val) c.1535G>T (p.Gly512Val) c.1076G>T (p.Gly359Val) | |
22 | g.37073579C>G | CA411420882 | TMPRSS6 | c.1508G>C (p.Gly503Ala) c.1535G>C (p.Gly512Ala) c.1076G>C (p.Gly359Ala) | |
22 | g.37073579C>T | CA411420880 | TMPRSS6 | c.1508G>A (p.Gly503Glu) c.1535G>A (p.Gly512Glu) c.1076G>A (p.Gly359Glu) | |
22 | g.37073580C>A | CA411420885 | TMPRSS6 | c.1507G>T (p.Gly503Trp) c.1534G>T (p.Gly512Trp) c.1075G>T (p.Gly359Trp) | |
22 | g.37073580C>G | CA411420888 | TMPRSS6 | c.1507G>C (p.Gly503Arg) c.1534G>C (p.Gly512Arg) c.1075G>C (p.Gly359Arg) | |
22 | g.37073580C>T | CA411420889 | TMPRSS6 | c.1507G>A (p.Gly503Arg) c.1534G>A (p.Gly512Arg) c.1075G>A (p.Gly359Arg) | |
22 | g.37073581A= | CA2404170516 | TMPRSS6 | c.1506T= (p.Asp502=) c.1533T= (p.Asp511=) c.1074T= (p.Asp358=) | |
22 | g.37073581A>C | CA411420891 | TMPRSS6 | c.1506T>G (p.Asp502Glu) c.1533T>G (p.Asp511Glu) c.1074T>G (p.Asp358Glu) | |
22 | g.37073581A>G | CA10215581 | TMPRSS6 | c.1506T>C (p.Asp502=) c.1533T>C (p.Asp511=) c.1074T>C (p.Asp358=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37073581A>T | CA411420894 | TMPRSS6 | c.1506T>A (p.Asp502Glu) c.1533T>A (p.Asp511Glu) c.1074T>A (p.Asp358Glu) | |
22 | g.37073582T>A | CA411420896 | TMPRSS6 | c.1505A>T (p.Asp502Val) c.1532A>T (p.Asp511Val) c.1073A>T (p.Asp358Val) | |
22 | g.37073582T>C | CA324048733 | TMPRSS6 | c.1505A>G (p.Asp502Gly) c.1532A>G (p.Asp511Gly) c.1073A>G (p.Asp358Gly) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.37073582T>G | CA411420899 | TMPRSS6 | c.1505A>C (p.Asp502Ala) c.1532A>C (p.Asp511Ala) c.1073A>C (p.Asp358Ala) | |
22 | g.37073582T= | CA2404170517 | TMPRSS6 | c.1505A= (p.Asp502=) c.1532A= (p.Asp511=) c.1073A= (p.Asp358=) | |
22 | g.37073583C>A | CA411420901 | TMPRSS6 | c.1504G>T (p.Asp502Tyr) c.1531G>T (p.Asp511Tyr) c.1072G>T (p.Asp358Tyr) | |
22 | g.37073583C>G | CA411420903 | TMPRSS6 | c.1504G>C (p.Asp502His) c.1531G>C (p.Asp511His) c.1072G>C (p.Asp358His) | |
22 | g.37073583C>T | CA411420905 | TMPRSS6 | c.1504G>A (p.Asp502Asn) c.1531G>A (p.Asp511Asn) c.1072G>A (p.Asp358Asn) | |
22 | g.37073584A>C | CA411420907 | TMPRSS6 | c.1503T>G (p.Cys501Trp) c.1530T>G (p.Cys510Trp) c.1071T>G (p.Cys357Trp) | |
22 | g.37073584A>G | CA514482287 | TMPRSS6 | c.1503T>C (p.Cys501=) c.1530T>C (p.Cys510=) c.1071T>C (p.Cys357=) | gnomAD v4 |
22 | g.37073584A>T | CA411420909 | TMPRSS6 | c.1503T>A (p.Cys501Ter) c.1530T>A (p.Cys510Ter) c.1071T>A (p.Cys357Ter) | |
22 | g.37073585C>A | CA411420911 | TMPRSS6 | c.1502G>T (p.Cys501Phe) c.1529G>T (p.Cys510Phe) c.1070G>T (p.Cys357Phe) | |
22 | g.37073585C>G | CA411420914 | TMPRSS6 | c.1502G>C (p.Cys501Ser) c.1529G>C (p.Cys510Ser) c.1070G>C (p.Cys357Ser) | |
22 | g.37073585C>T | CA411420915 | TMPRSS6 | c.1502G>A (p.Cys501Tyr) c.1529G>A (p.Cys510Tyr) c.1070G>A (p.Cys357Tyr) | |
22 | g.37073586A>C | CA411420918 | TMPRSS6 | c.1501T>G (p.Cys501Gly) c.1528T>G (p.Cys510Gly) c.1069T>G (p.Cys357Gly) | |
22 | g.37073586A>G | CA411420920 | TMPRSS6 | c.1501T>C (p.Cys501Arg) c.1528T>C (p.Cys510Arg) c.1069T>C (p.Cys357Arg) | |
22 | g.37073586A>T | CA411420922 | TMPRSS6 | c.1501T>A (p.Cys501Ser) c.1528T>A (p.Cys510Ser) c.1069T>A (p.Cys357Ser) | gnomAD v4 |
22 | g.37073587G>A | CA514482289 | TMPRSS6 | c.1500C>T (p.Val500=) c.1527C>T (p.Val509=) c.1068C>T (p.Val356=) | |
22 | g.37073587G>C | CA514482290 | TMPRSS6 | c.1500C>G (p.Val500=) c.1527C>G (p.Val509=) c.1068C>G (p.Val356=) | |
22 | g.37073587G>T | CA514482288 | TMPRSS6 | c.1500C>A (p.Val500=) c.1527C>A (p.Val509=) c.1068C>A (p.Val356=) | |
22 | g.37073588A= | CA2404170518 | TMPRSS6 | c.1499T= (p.Val500=) c.1526T= (p.Val509=) c.1067T= (p.Val356=) | |
22 | g.37073588A>C | CA411420924 | TMPRSS6 | c.1499T>G (p.Val500Gly) c.1526T>G (p.Val509Gly) c.1067T>G (p.Val356Gly) | |
22 | g.37073588A>G | CA10215582 | TMPRSS6 | c.1499T>C (p.Val500Ala) c.1526T>C (p.Val509Ala) c.1067T>C (p.Val356Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37073588A>T | CA411420926 | TMPRSS6 | c.1499T>A (p.Val500Asp) c.1526T>A (p.Val509Asp) c.1067T>A (p.Val356Asp) | |
22 | g.37073589C>A | CA411420928 | TMPRSS6 | c.1498G>T (p.Val500Phe) c.1525G>T (p.Val509Phe) c.1066G>T (p.Val356Phe) | |
22 | g.37073589C>G | CA411420931 | TMPRSS6 | c.1498G>C (p.Val500Leu) c.1525G>C (p.Val509Leu) c.1066G>C (p.Val356Leu) | |
22 | g.37073589C>T | CA411420929 | TMPRSS6 | c.1498G>A (p.Val500Ile) c.1525G>A (p.Val509Ile) c.1066G>A (p.Val356Ile) | |
22 | g.37073590C>A | CA411420932 | TMPRSS6 | c.1497G>T (p.Lys499Asn) c.1524G>T (p.Lys508Asn) c.1065G>T (p.Lys355Asn) | |
22 | g.37073590C>G | CA411420934 | TMPRSS6 | c.1497G>C (p.Lys499Asn) c.1524G>C (p.Lys508Asn) c.1065G>C (p.Lys355Asn) | |
22 | g.37073590C>T | CA514482291 | TMPRSS6 | c.1497G>A (p.Lys499=) c.1524G>A (p.Lys508=) c.1065G>A (p.Lys355=) | gnomAD v4 |
22 | g.37073591T>A | CA411420936 | TMPRSS6 | c.1496A>T (p.Lys499Met) c.1523A>T (p.Lys508Met) c.1064A>T (p.Lys355Met) | |
22 | g.37073591T>C | CA10215583 | TMPRSS6 | c.1496A>G (p.Lys499Arg) c.1523A>G (p.Lys508Arg) c.1064A>G (p.Lys355Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37073591T>G | CA411420940 | TMPRSS6 | c.1496A>C (p.Lys499Thr) c.1523A>C (p.Lys508Thr) c.1064A>C (p.Lys355Thr) | |
22 | g.37073591T= | CA2404170519 | TMPRSS6 | c.1496A= (p.Lys499=) c.1523A= (p.Lys508=) c.1064A= (p.Lys355=) | |
22 | g.37073592T>A | CA411420943 | TMPRSS6 | c.1495A>T (p.Lys499Ter) c.1522A>T (p.Lys508Ter) c.1063A>T (p.Lys355Ter) | gnomAD v4 |
22 | g.37073592T>C | CA10215584 | TMPRSS6 | c.1495A>G (p.Lys499Glu) c.1522A>G (p.Lys508Glu) c.1063A>G (p.Lys355Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37073592T>G | CA411420946 | TMPRSS6 | c.1495A>C (p.Lys499Gln) c.1522A>C (p.Lys508Gln) c.1063A>C (p.Lys355Gln) | |
22 | g.37073592T= | CA2404170520 | TMPRSS6 | c.1495A= (p.Lys499=) c.1522A= (p.Lys508=) c.1063A= (p.Lys355=) | |
22 | g.37073593G>A | CA514482294 | TMPRSS6 | c.1494C>T (p.Pro498=) c.1521C>T (p.Pro507=) c.1062C>T (p.Pro354=) | dbSNP |
22 | g.37073593G>C | CA514482292 | TMPRSS6 | c.1494C>G (p.Pro498=) c.1521C>G (p.Pro507=) c.1062C>G (p.Pro354=) | |
22 | g.37073593G= | CA2404170521 | TMPRSS6 | c.1494C= (p.Pro498=) c.1521C= (p.Pro507=) c.1062C= (p.Pro354=) | |
22 | g.37073593G>T | CA514482293 | TMPRSS6 | c.1494C>A (p.Pro498=) c.1521C>A (p.Pro507=) c.1062C>A (p.Pro354=) | |
22 | g.37073594G>A | CA10215585 | TMPRSS6 | c.1493C>T (p.Pro498Leu) c.1520C>T (p.Pro507Leu) c.1061C>T (p.Pro354Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37073594G>C | CA411420949 | TMPRSS6 | c.1493C>G (p.Pro498Arg) c.1520C>G (p.Pro507Arg) c.1061C>G (p.Pro354Arg) | |
22 | g.37073594G= | CA2404170522 | TMPRSS6 | c.1493C= (p.Pro498=) c.1520C= (p.Pro507=) c.1061C= (p.Pro354=) | |
22 | g.37073594G>T | CA411420951 | TMPRSS6 | c.1493C>A (p.Pro498His) c.1520C>A (p.Pro507His) c.1061C>A (p.Pro354His) | |
22 | g.37073595G>A | CA411420957 | TMPRSS6 | c.1492C>T (p.Pro498Ser) c.1519C>T (p.Pro507Ser) c.1060C>T (p.Pro354Ser) | gnomAD v4 |
22 | g.37073595G>C | CA411420956 | TMPRSS6 | c.1492C>G (p.Pro498Ala) c.1519C>G (p.Pro507Ala) c.1060C>G (p.Pro354Ala) | |
22 | g.37073595G>T | CA411420954 | TMPRSS6 | c.1492C>A (p.Pro498Thr) c.1519C>A (p.Pro507Thr) c.1060C>A (p.Pro354Thr) | |
22 | g.37073596C>A | CA514482295 | TMPRSS6 | c.1491G>T (p.Leu497=) c.1518G>T (p.Leu506=) c.1059G>T (p.Leu353=) | |
22 | g.37073596C>G | CA514482296 | TMPRSS6 | c.1491G>C (p.Leu497=) c.1518G>C (p.Leu506=) c.1059G>C (p.Leu353=) | |
22 | g.37073596C>T | CA514482297 | TMPRSS6 | c.1491G>A (p.Leu497=) c.1518G>A (p.Leu506=) c.1059G>A (p.Leu353=) | |
22 | g.37073597A>C | CA411420960 | TMPRSS6 | c.1490T>G (p.Leu497Arg) c.1517T>G (p.Leu506Arg) c.1058T>G (p.Leu353Arg) | |
22 | g.37073597A>G | CA411420962 | TMPRSS6 | c.1490T>C (p.Leu497Pro) c.1517T>C (p.Leu506Pro) c.1058T>C (p.Leu353Pro) | |
22 | g.37073597A>T | CA411420963 | TMPRSS6 | c.1490T>A (p.Leu497Gln) c.1517T>A (p.Leu506Gln) c.1058T>A (p.Leu353Gln) | |
22 | g.37073598G>A | CA514482298 | TMPRSS6 | c.1489C>T (p.Leu497=) c.1516C>T (p.Leu506=) c.1057C>T (p.Leu353=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37073598G>C | CA411420965 | TMPRSS6 | c.1489C>G (p.Leu497Val) c.1516C>G (p.Leu506Val) c.1057C>G (p.Leu353Val) | |
22 | g.37073598G= | CA2404170523 | TMPRSS6 | c.1489C= (p.Leu497=) c.1516C= (p.Leu506=) c.1057C= (p.Leu353=) | |
22 | g.37073598G>T | CA411420967 | TMPRSS6 | c.1489C>A (p.Leu497Met) c.1516C>A (p.Leu506Met) c.1057C>A (p.Leu353Met) | |
22 | g.37073599T>A | CA514482299 | TMPRSS6 | c.1488A>T (p.Ser496=) c.1515A>T (p.Ser505=) c.1056A>T (p.Ser352=) | |
22 | g.37073599T>C | CA514482300 | TMPRSS6 | c.1488A>G (p.Ser496=) c.1515A>G (p.Ser505=) c.1056A>G (p.Ser352=) | |
22 | g.37073599T>G | CA514482301 | TMPRSS6 | c.1488A>C (p.Ser496=) c.1515A>C (p.Ser505=) c.1056A>C (p.Ser352=) | dbSNP gnomAD v4 |
22 | g.37073600G>A | CA411420969 | TMPRSS6 | c.1487C>T (p.Ser496Leu) c.1514C>T (p.Ser505Leu) c.1055C>T (p.Ser352Leu) | |
22 | g.37073600G>C | CA411420971 | TMPRSS6 | c.1487C>G (p.Ser496Ter) c.1514C>G (p.Ser505Ter) c.1055C>G (p.Ser352Ter) | |
22 | g.37073600G>T | CA411420973 | TMPRSS6 | c.1487C>A (p.Ser496Ter) c.1514C>A (p.Ser505Ter) c.1055C>A (p.Ser352Ter) | |
22 | g.37073601A>C | CA411420975 | TMPRSS6 | c.1486T>G (p.Ser496Ala) c.1513T>G (p.Ser505Ala) c.1054T>G (p.Ser352Ala) | |
22 | g.37073601A>G | CA411420977 | TMPRSS6 | c.1486T>C (p.Ser496Pro) c.1513T>C (p.Ser505Pro) c.1054T>C (p.Ser352Pro) | |
22 | g.37073601A>T | CA411420979 | TMPRSS6 | c.1486T>A (p.Ser496Thr) c.1513T>A (p.Ser505Thr) c.1054T>A (p.Ser352Thr) | |
22 | g.37073602G>A | CA514482302 | TMPRSS6 | c.1485C>T (p.Ile495=) c.1512C>T (p.Ile504=) c.1053C>T (p.Ile351=) | |
22 | g.37073602G>C | CA411420982 | TMPRSS6 | c.1485C>G (p.Ile495Met) c.1512C>G (p.Ile504Met) c.1053C>G (p.Ile351Met) | |
22 | g.37073602G>T | CA514482303 | TMPRSS6 | c.1485C>A (p.Ile495=) c.1512C>A (p.Ile504=) c.1053C>A (p.Ile351=) | |
22 | g.37073603A>C | CA411420988 | TMPRSS6 | c.1484T>G (p.Ile495Ser) c.1511T>G (p.Ile504Ser) c.1052T>G (p.Ile351Ser) | |
22 | g.37073603A>G | CA411420986 | TMPRSS6 | c.1484T>C (p.Ile495Thr) c.1511T>C (p.Ile504Thr) c.1052T>C (p.Ile351Thr) | |
22 | g.37073603A>T | CA411420984 | TMPRSS6 | c.1484T>A (p.Ile495Asn) c.1511T>A (p.Ile504Asn) c.1052T>A (p.Ile351Asn) | |
22 | g.37073604T>A | CA411420990 | TMPRSS6 | c.1483A>T (p.Ile495Phe) c.1510A>T (p.Ile504Phe) c.1051A>T (p.Ile351Phe) | |
22 | g.37073604T>C | CA10215586 | TMPRSS6 | c.1483A>G (p.Ile495Val) c.1510A>G (p.Ile504Val) c.1051A>G (p.Ile351Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37073604T>G | CA411420993 | TMPRSS6 | c.1483A>C (p.Ile495Leu) c.1510A>C (p.Ile504Leu) c.1051A>C (p.Ile351Leu) | |
22 | g.37073604T= | CA2404170524 | TMPRSS6 | c.1483A= (p.Ile495=) c.1510A= (p.Ile504=) c.1051A= (p.Ile351=) | |
22 | g.37073605G>A | CA514482304 | TMPRSS6 | c.1482C>T (p.Cys494=) c.1509C>T (p.Cys503=) c.1050C>T (p.Cys350=) | gnomAD v4 |
22 | g.37073605G>C | CA411420995 | TMPRSS6 | c.1482C>G (p.Cys494Trp) c.1509C>G (p.Cys503Trp) c.1050C>G (p.Cys350Trp) | |
22 | g.37073605G>T | CA411420997 | TMPRSS6 | c.1482C>A (p.Cys494Ter) c.1509C>A (p.Cys503Ter) c.1050C>A (p.Cys350Ter) | gnomAD v4 |
22 | g.37073606C>A | CA411421003 | TMPRSS6 | c.1481G>T (p.Cys494Phe) c.1508G>T (p.Cys503Phe) c.1049G>T (p.Cys350Phe) | |
22 | g.37073606C>G | CA411421001 | TMPRSS6 | c.1481G>C (p.Cys494Ser) c.1508G>C (p.Cys503Ser) c.1049G>C (p.Cys350Ser) | |
22 | g.37073606C>T | CA411420999 | TMPRSS6 | c.1481G>A (p.Cys494Tyr) c.1508G>A (p.Cys503Tyr) c.1049G>A (p.Cys350Tyr) | |
22 | g.37073607A>C | CA411421005 | TMPRSS6 | c.1480T>G (p.Cys494Gly) c.1507T>G (p.Cys503Gly) c.1048T>G (p.Cys350Gly) | |
22 | g.37073607A>G | CA411421007 | TMPRSS6 | c.1480T>C (p.Cys494Arg) c.1507T>C (p.Cys503Arg) c.1048T>C (p.Cys350Arg) | |
22 | g.37073607A>T | CA411421009 | TMPRSS6 | c.1480T>A (p.Cys494Ser) c.1507T>A (p.Cys503Ser) c.1048T>A (p.Cys350Ser) | |
22 | g.37073608T>A | CA514482306 | TMPRSS6 | c.1479A>T (p.Thr493=) c.1506A>T (p.Thr502=) c.1047A>T (p.Thr349=) | |
22 | g.37073608T>C | CA514482307 | TMPRSS6 | c.1479A>G (p.Thr493=) c.1506A>G (p.Thr502=) c.1047A>G (p.Thr349=) | |
22 | g.37073608T>G | CA514482305 | TMPRSS6 | c.1479A>C (p.Thr493=) c.1506A>C (p.Thr502=) c.1047A>C (p.Thr349=) | |
22 | g.37073609G>A | CA411421012 | TMPRSS6 | c.1478C>T (p.Thr493Ile) c.1505C>T (p.Thr502Ile) c.1046C>T (p.Thr349Ile) | gnomAD v4 |
22 | g.37073609G>C | CA411421014 | TMPRSS6 | c.1478C>G (p.Thr493Arg) c.1505C>G (p.Thr502Arg) c.1046C>G (p.Thr349Arg) | |
22 | g.37073609G>T | CA411421016 | TMPRSS6 | c.1478C>A (p.Thr493Lys) c.1505C>A (p.Thr502Lys) c.1046C>A (p.Thr349Lys) | |
22 | g.37073610T>A | CA411421018 | TMPRSS6 | c.1477A>T (p.Thr493Ser) c.1504A>T (p.Thr502Ser) c.1045A>T (p.Thr349Ser) | |
22 | g.37073610T>C | CA411421022 | TMPRSS6 | c.1477A>G (p.Thr493Ala) c.1504A>G (p.Thr502Ala) c.1045A>G (p.Thr349Ala) | |
22 | g.37073610T>G | CA411421020 | TMPRSS6 | c.1477A>C (p.Thr493Pro) c.1504A>C (p.Thr502Pro) c.1045A>C (p.Thr349Pro) | |
22 | g.37073611G>A | CA514482308 | TMPRSS6 | c.1476C>T (p.Ser492=) c.1503C>T (p.Ser501=) c.1044C>T (p.Ser348=) | gnomAD v4 |
22 | g.37073611G>C | CA411421023 | TMPRSS6 | c.1476C>G (p.Ser492Arg) c.1503C>G (p.Ser501Arg) c.1044C>G (p.Ser348Arg) | |
22 | g.37073611G= | CA2404170525 | TMPRSS6 | c.1476C= (p.Ser492=) c.1503C= (p.Ser501=) c.1044C= (p.Ser348=) | |
22 | g.37073611G>T | CA10215587 | TMPRSS6 | c.1476C>A (p.Ser492Arg) c.1503C>A (p.Ser501Arg) c.1044C>A (p.Ser348Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37073612C>A | CA411421026 | TMPRSS6 | c.1475G>T (p.Ser492Ile) c.1502G>T (p.Ser501Ile) c.1043G>T (p.Ser348Ile) | |
22 | g.37073612C>G | CA411421028 | TMPRSS6 | c.1475G>C (p.Ser492Thr) c.1502G>C (p.Ser501Thr) c.1043G>C (p.Ser348Thr) | |
22 | g.37073612C>T | CA411421030 | TMPRSS6 | c.1475G>A (p.Ser492Asn) c.1502G>A (p.Ser501Asn) c.1043G>A (p.Ser348Asn) | gnomAD v4 COSMIC |
22 | g.37073613T>A | CA411421032 | TMPRSS6 | c.1474A>T (p.Ser492Cys) c.1501A>T (p.Ser501Cys) c.1042A>T (p.Ser348Cys) | |
22 | g.37073613T>C | CA411421034 | TMPRSS6 | c.1474A>G (p.Ser492Gly) c.1501A>G (p.Ser501Gly) c.1042A>G (p.Ser348Gly) | |
22 | g.37073613T>G | CA411421036 | TMPRSS6 | c.1474A>C (p.Ser492Arg) c.1501A>C (p.Ser501Arg) c.1042A>C (p.Ser348Arg) | |
22 | g.37073614G>A | CA514482309 | TMPRSS6 | c.1473C>T (p.Asp491=) c.1500C>T (p.Asp500=) c.1041C>T (p.Asp347=) | |
22 | g.37073614G>C | CA411421037 | TMPRSS6 | c.1473C>G (p.Asp491Glu) c.1500C>G (p.Asp500Glu) c.1041C>G (p.Asp347Glu) | |
22 | g.37073614G>T | CA411421039 | TMPRSS6 | c.1473C>A (p.Asp491Glu) c.1500C>A (p.Asp500Glu) c.1041C>A (p.Asp347Glu) | gnomAD v4 |
22 | g.37073615T>A | CA411421041 | TMPRSS6 | c.1472A>T (p.Asp491Val) c.1499A>T (p.Asp500Val) c.1040A>T (p.Asp347Val) | |
22 | g.37073615T>C | CA411421046 | TMPRSS6 | c.1472A>G (p.Asp491Gly) c.1499A>G (p.Asp500Gly) c.1040A>G (p.Asp347Gly) | gnomAD v4 |
22 | g.37073615T>G | CA411421044 | TMPRSS6 | c.1472A>C (p.Asp491Ala) c.1499A>C (p.Asp500Ala) c.1040A>C (p.Asp347Ala) | |
22 | g.37073616C>A | CA411421048 | TMPRSS6 | c.1471G>T (p.Asp491Tyr) c.1498G>T (p.Asp500Tyr) c.1039G>T (p.Asp347Tyr) | |
22 | g.37073616C>G | CA411421052 | TMPRSS6 | c.1471G>C (p.Asp491His) c.1498G>C (p.Asp500His) c.1039G>C (p.Asp347His) | |
22 | g.37073616C>T | CA411421050 | TMPRSS6 | c.1471G>A (p.Asp491Asn) c.1498G>A (p.Asp500Asn) c.1039G>A (p.Asp347Asn) | |
22 | g.37073617C>A | CA411421053 | TMPRSS6 | c.1470G>T (p.Glu490Asp) c.1497G>T (p.Glu499Asp) c.1038G>T (p.Glu346Asp) | |
22 | g.37073617C= | CA2404170526 | TMPRSS6 | c.1470G= (p.Glu490=) c.1497G= (p.Glu499=) c.1038G= (p.Glu346=) | |
22 | g.37073617C>G | CA411421054 | TMPRSS6 | c.1470G>C (p.Glu490Asp) c.1497G>C (p.Glu499Asp) c.1038G>C (p.Glu346Asp) | |
22 | g.37073617C>T | CA514482310 | TMPRSS6 | c.1470G>A (p.Glu490=) c.1497G>A (p.Glu499=) c.1038G>A (p.Glu346=) | dbSNP |
22 | g.37073618T>A | CA411421057 | TMPRSS6 | c.1469A>T (p.Glu490Val) c.1496A>T (p.Glu499Val) c.1037A>T (p.Glu346Val) | |
22 | g.37073618T>C | CA10215588 | TMPRSS6 | c.1469A>G (p.Glu490Gly) c.1496A>G (p.Glu499Gly) c.1037A>G (p.Glu346Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37073618T>G | CA411421060 | TMPRSS6 | c.1469A>C (p.Glu490Ala) c.1496A>C (p.Glu499Ala) c.1037A>C (p.Glu346Ala) | |
22 | g.37073618T= | CA2404170527 | TMPRSS6 | c.1469A= (p.Glu490=) c.1496A= (p.Glu499=) c.1037A= (p.Glu346=) | |
22 | g.37073619C>A | CA411421062 | TMPRSS6 | c.1468G>T (p.Glu490Ter) c.1495G>T (p.Glu499Ter) c.1036G>T (p.Glu346Ter) | |
22 | g.37073619C>G | CA411421063 | TMPRSS6 | c.1468G>C (p.Glu490Gln) c.1495G>C (p.Glu499Gln) c.1036G>C (p.Glu346Gln) | |
22 | g.37073619C>T | CA411421064 | TMPRSS6 | c.1468G>A (p.Glu490Lys) c.1495G>A (p.Glu499Lys) c.1036G>A (p.Glu346Lys) | |
22 | g.37073620T>A | CA411421066 | TMPRSS6 | c.1467A>T (p.Lys489Asn) c.1494A>T (p.Lys498Asn) c.1035A>T (p.Lys345Asn) | |
22 | g.37073620T>C | CA514482311 | TMPRSS6 | c.1467A>G (p.Lys489=) c.1494A>G (p.Lys498=) c.1035A>G (p.Lys345=) | |
22 | g.37073620T>G | CA411421068 | TMPRSS6 | c.1467A>C (p.Lys489Asn) c.1494A>C (p.Lys498Asn) c.1035A>C (p.Lys345Asn) | |
22 | g.37073622del | CA2577737694 | TMPRSS6 | c.1467del (p.Glu490ArgfsTer?) c.1494del (p.Glu499ArgfsTer?) c.1035del (p.Glu346ArgfsTer?) | |
22 | g.37073621_37073622del | CA2656483366 | TMPRSS6 | c.1466_1467del (p.Lys489ArgfsTer13) c.1493_1494del (p.Lys498ArgfsTer13) c.1034_1035del (p.Lys345ArgfsTer13) | gnomAD v4 |
22 | g.37073621T>A | CA411421069 | TMPRSS6 | c.1466A>T (p.Lys489Ile) c.1493A>T (p.Lys498Ile) c.1034A>T (p.Lys345Ile) | |
22 | g.37073621T>C | CA411421071 | TMPRSS6 | c.1466A>G (p.Lys489Arg) c.1493A>G (p.Lys498Arg) c.1034A>G (p.Lys345Arg) | |
22 | g.37073621T>G | CA411421073 | TMPRSS6 | c.1466A>C (p.Lys489Thr) c.1493A>C (p.Lys498Thr) c.1034A>C (p.Lys345Thr) | |
22 | g.37073622T>A | CA411421078 | TMPRSS6 | c.1465A>T (p.Lys489Ter) c.1492A>T (p.Lys498Ter) c.1033A>T (p.Lys345Ter) | |
22 | g.37073622T>C | CA411421075 | TMPRSS6 | c.1465A>G (p.Lys489Glu) c.1492A>G (p.Lys498Glu) c.1033A>G (p.Lys345Glu) | gnomAD v4 |
22 | g.37073622T>G | CA411421077 | TMPRSS6 | c.1465A>C (p.Lys489Gln) c.1492A>C (p.Lys498Gln) c.1033A>C (p.Lys345Gln) | gnomAD v4 |
22 | g.37073623G>A | CA514482312 | TMPRSS6 | c.1464C>T (p.Cys488=) c.1491C>T (p.Cys497=) c.1032C>T (p.Cys344=) | |
22 | g.37073623G>C | CA411421080 | TMPRSS6 | c.1464C>G (p.Cys488Trp) c.1491C>G (p.Cys497Trp) c.1032C>G (p.Cys344Trp) | |
22 | g.37073623G>T | CA411421082 | TMPRSS6 | c.1464C>A (p.Cys488Ter) c.1491C>A (p.Cys497Ter) c.1032C>A (p.Cys344Ter) | |
22 | g.37073624C>A | CA411421084 | TMPRSS6 | c.1463G>T (p.Cys488Phe) c.1490G>T (p.Cys497Phe) c.1031G>T (p.Cys344Phe) | COSMIC |
22 | g.37073624C>G | CA411421086 | TMPRSS6 | c.1463G>C (p.Cys488Ser) c.1490G>C (p.Cys497Ser) c.1031G>C (p.Cys344Ser) | |
22 | g.37073624C>T | CA411421088 | TMPRSS6 | c.1463G>A (p.Cys488Tyr) c.1490G>A (p.Cys497Tyr) c.1031G>A (p.Cys344Tyr) | |
22 | g.37073625A= | CA2404170528 | TMPRSS6 | c.1462T= (p.Cys488=) c.1489T= (p.Cys497=) c.1030T= (p.Cys344=) | |
22 | g.37073625A>C | CA411421090 | TMPRSS6 | c.1462T>G (p.Cys488Gly) c.1489T>G (p.Cys497Gly) c.1030T>G (p.Cys344Gly) | |
22 | g.37073625A>G | CA10215589 | TMPRSS6 | c.1462T>C (p.Cys488Arg) c.1489T>C (p.Cys497Arg) c.1030T>C (p.Cys344Arg) | dbSNP ExAC gnomAD v3 gnomAD v4 |
22 | g.37073625A>T | CA411421093 | TMPRSS6 | c.1462T>A (p.Cys488Ser) c.1489T>A (p.Cys497Ser) c.1030T>A (p.Cys344Ser) | |
22 | g.37073626C>A | CA411421094 | TMPRSS6 | c.1461G>T (p.Gln487His) c.1488G>T (p.Gln496His) c.1029G>T (p.Gln343His) | |
22 | g.37073626C>G | CA411421095 | TMPRSS6 | c.1461G>C (p.Gln487His) c.1488G>C (p.Gln496His) c.1029G>C (p.Gln343His) | |
22 | g.37073626C>T | CA514482313 | TMPRSS6 | c.1461G>A (p.Gln487=) c.1488G>A (p.Gln496=) c.1029G>A (p.Gln343=) | |
22 | g.37073627T>A | CA411421102 | TMPRSS6 | c.1460A>T (p.Gln487Leu) c.1487A>T (p.Gln496Leu) c.1028A>T (p.Gln343Leu) | |
22 | g.37073627T>C | CA411421104 | TMPRSS6 | c.1460A>G (p.Gln487Arg) c.1487A>G (p.Gln496Arg) c.1028A>G (p.Gln343Arg) | |
22 | g.37073627T>G | CA411421097 | TMPRSS6 | c.1460A>C (p.Gln487Pro) c.1487A>C (p.Gln496Pro) c.1028A>C (p.Gln343Pro) | |
22 | g.37073628G>A | CA411421106 | TMPRSS6 | c.1459C>T (p.Gln487Ter) c.1486C>T (p.Gln496Ter) c.1027C>T (p.Gln343Ter) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
22 | g.37073628G>C | CA411421108 | TMPRSS6 | c.1459C>G (p.Gln487Glu) c.1486C>G (p.Gln496Glu) c.1027C>G (p.Gln343Glu) | |
22 | g.37073628G= | CA2404170529 | TMPRSS6 | c.1459C= (p.Gln487=) c.1486C= (p.Gln496=) c.1027C= (p.Gln343=) | |
22 | g.37073628G>T | CA411421110 | TMPRSS6 | c.1459C>A (p.Gln487Lys) c.1486C>A (p.Gln496Lys) c.1027C>A (p.Gln343Lys) | |
22 | g.37073629G>A | CA514482314 | TMPRSS6 | c.1458C>T (p.Phe486=) c.1485C>T (p.Phe495=) c.1026C>T (p.Phe342=) | |
22 | g.37073629G>C | CA10215590 | TMPRSS6 | c.1458C>G (p.Phe486Leu) c.1485C>G (p.Phe495Leu) c.1026C>G (p.Phe342Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.37073629G= | CA2404170530 | TMPRSS6 | c.1458C= (p.Phe486=) c.1485C= (p.Phe495=) c.1026C= (p.Phe342=) | |
22 | g.37073629G>T | CA411421113 | TMPRSS6 | c.1458C>A (p.Phe486Leu) c.1485C>A (p.Phe495Leu) c.1026C>A (p.Phe342Leu) | dbSNP gnomAD v4 |
22 | g.37073630A>C | CA411421115 | TMPRSS6 | c.1457T>G (p.Phe486Cys) c.1484T>G (p.Phe495Cys) c.1025T>G (p.Phe342Cys) | |
22 | g.37073630A>G | CA411421117 | TMPRSS6 | c.1457T>C (p.Phe486Ser) c.1484T>C (p.Phe495Ser) c.1025T>C (p.Phe342Ser) | |
22 | g.37073630A>T | CA411421119 | TMPRSS6 | c.1457T>A (p.Phe486Tyr) c.1484T>A (p.Phe495Tyr) c.1025T>A (p.Phe342Tyr) | |
22 | g.37073631A>C | CA411421121 | TMPRSS6 | c.1456T>G (p.Phe486Val) c.1483T>G (p.Phe495Val) c.1024T>G (p.Phe342Val) | |
22 | g.37073631A>G | CA411421123 | TMPRSS6 | c.1456T>C (p.Phe486Leu) c.1483T>C (p.Phe495Leu) c.1024T>C (p.Phe342Leu) | |
22 | g.37073631A>T | CA411421125 | TMPRSS6 | c.1456T>A (p.Phe486Ile) c.1483T>A (p.Phe495Ile) c.1024T>A (p.Phe342Ile) | |
22 | g.37073632T>A | CA514482315 | TMPRSS6 | c.1455A>T (p.Thr485=) c.1482A>T (p.Thr494=) c.1023A>T (p.Thr341=) | |
22 | g.37073632T>C | CA514482317 | TMPRSS6 | c.1455A>G (p.Thr485=) c.1482A>G (p.Thr494=) c.1023A>G (p.Thr341=) | COSMIC |
22 | g.37073632T>G | CA514482316 | TMPRSS6 | c.1455A>C (p.Thr485=) c.1482A>C (p.Thr494=) c.1023A>C (p.Thr341=) | |
22 | g.37073633G>A | CA10215591 | TMPRSS6 | c.1454C>T (p.Thr485Ile) c.1481C>T (p.Thr494Ile) c.1022C>T (p.Thr341Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37073633G>C | CA411421130 | TMPRSS6 | c.1454C>G (p.Thr485Arg) c.1481C>G (p.Thr494Arg) c.1022C>G (p.Thr341Arg) | |
22 | g.37073633G= | CA2404170531 | TMPRSS6 | c.1454C= (p.Thr485=) c.1481C= (p.Thr494=) c.1022C= (p.Thr341=) | |
22 | g.37073633G>T | CA411421127 | TMPRSS6 | c.1454C>A (p.Thr485Lys) c.1481C>A (p.Thr494Lys) c.1022C>A (p.Thr341Lys) | |
22 | g.37073634T>A | CA411421132 | TMPRSS6 | c.1453A>T (p.Thr485Ser) c.1480A>T (p.Thr494Ser) c.1021A>T (p.Thr341Ser) | |
22 | g.37073634T>C | CA411421134 | TMPRSS6 | c.1453A>G (p.Thr485Ala) c.1480A>G (p.Thr494Ala) c.1021A>G (p.Thr341Ala) | |
22 | g.37073634T>G | CA411421136 | TMPRSS6 | c.1453A>C (p.Thr485Pro) c.1480A>C (p.Thr494Pro) c.1021A>C (p.Thr341Pro) | |
22 | g.37073635G>A | CA514482318 | TMPRSS6 | c.1452C>T (p.Ala484=) c.1479C>T (p.Ala493=) c.1020C>T (p.Ala340=) | |
22 | g.37073635G>C | CA514482319 | TMPRSS6 | c.1452C>G (p.Ala484=) c.1479C>G (p.Ala493=) c.1020C>G (p.Ala340=) | |
22 | g.37073635G>T | CA514482320 | TMPRSS6 | c.1452C>A (p.Ala484=) c.1479C>A (p.Ala493=) c.1020C>A (p.Ala340=) | gnomAD v4 |
22 | g.37073636G>A | CA411421138 | TMPRSS6 | c.1451C>T (p.Ala484Val) c.1478C>T (p.Ala493Val) c.1019C>T (p.Ala340Val) | |
22 | g.37073636G>C | CA411421140 | TMPRSS6 | c.1451C>G (p.Ala484Gly) c.1478C>G (p.Ala493Gly) c.1019C>G (p.Ala340Gly) | COSMIC COSMIC |
22 | g.37073636G>T | CA411421141 | TMPRSS6 | c.1451C>A (p.Ala484Asp) c.1478C>A (p.Ala493Asp) c.1019C>A (p.Ala340Asp) | |
22 | g.37073637C>A | CA411421143 | TMPRSS6 | c.1450G>T (p.Ala484Ser) c.1477G>T (p.Ala493Ser) c.1018G>T (p.Ala340Ser) | |
22 | g.37073637C>G | CA411421147 | TMPRSS6 | c.1450G>C (p.Ala484Pro) c.1477G>C (p.Ala493Pro) c.1018G>C (p.Ala340Pro) | |
22 | g.37073637C>T | CA411421145 | TMPRSS6 | c.1450G>A (p.Ala484Thr) c.1477G>A (p.Ala493Thr) c.1018G>A (p.Ala340Thr) | |
22 | g.37073638T>A | CA411421149 | TMPRSS6 | c.1449A>T (p.Arg483Ser) c.1476A>T (p.Arg492Ser) c.1017A>T (p.Arg339Ser) | |
22 | g.37073638T>C | CA514482321 | TMPRSS6 | c.1449A>G (p.Arg483=) c.1476A>G (p.Arg492=) c.1017A>G (p.Arg339=) | gnomAD v4 |
22 | g.37073638T>G | CA411421151 | TMPRSS6 | c.1449A>C (p.Arg483Ser) c.1476A>C (p.Arg492Ser) c.1017A>C (p.Arg339Ser) | |
22 | g.37073639C>A | CA411421153 | TMPRSS6 | c.1448G>T (p.Arg483Ile) c.1475G>T (p.Arg492Ile) c.1016G>T (p.Arg339Ile) | |
22 | g.37073639C= | CA2404170532 | TMPRSS6 | c.1448G= (p.Arg483=) c.1475G= (p.Arg492=) c.1016G= (p.Arg339=) | |
22 | g.37073639C>G | CA411421154 | TMPRSS6 | c.1448G>C (p.Arg483Thr) c.1475G>C (p.Arg492Thr) c.1016G>C (p.Arg339Thr) | |
22 | g.37073639C>T | CA411421155 | TMPRSS6 | c.1448G>A (p.Arg483Lys) c.1475G>A (p.Arg492Lys) c.1016G>A (p.Arg339Lys) | dbSNP gnomAD v4 |
22 | g.37073640T>A | CA411421159 | TMPRSS6 | c.1447A>T (p.Arg483Ter) c.1474A>T (p.Arg492Ter) c.1015A>T (p.Arg339Ter) | |
22 | g.37073640T>C | CA411421157 | TMPRSS6 | c.1447A>G (p.Arg483Gly) c.1474A>G (p.Arg492Gly) c.1015A>G (p.Arg339Gly) | |
22 | g.37073640T>G | CA514482322 | TMPRSS6 | c.1447A>C (p.Arg483=) c.1474A>C (p.Arg492=) c.1015A>C (p.Arg339=) | |
22 | g.37073641G>A | CA514482323 | TMPRSS6 | c.1446C>T (p.Cys482=) c.1473C>T (p.Cys491=) c.1014C>T (p.Cys338=) | |
22 | g.37073641G>C | CA411421161 | TMPRSS6 | c.1446C>G (p.Cys482Trp) c.1473C>G (p.Cys491Trp) c.1014C>G (p.Cys338Trp) | |
22 | g.37073641G>T | CA411421163 | TMPRSS6 | c.1446C>A (p.Cys482Ter) c.1473C>A (p.Cys491Ter) c.1014C>A (p.Cys338Ter) | |
22 | g.37073642C>A | CA411421165 | TMPRSS6 | c.1445G>T (p.Cys482Phe) c.1472G>T (p.Cys491Phe) c.1013G>T (p.Cys338Phe) | gnomAD v4 |
22 | g.37073642C>G | CA411421167 | TMPRSS6 | c.1445G>C (p.Cys482Ser) c.1472G>C (p.Cys491Ser) c.1013G>C (p.Cys338Ser) | |
22 | g.37073642C>T | CA411421169 | TMPRSS6 | c.1445G>A (p.Cys482Tyr) c.1472G>A (p.Cys491Tyr) c.1013G>A (p.Cys338Tyr) | |
22 | g.37073643A= | CA2404170533 | TMPRSS6 | c.1444T= (p.Cys482=) c.1471T= (p.Cys491=) c.1012T= (p.Cys338=) | |
22 | g.37073643A>C | CA411421171 | TMPRSS6 | c.1444T>G (p.Cys482Gly) c.1471T>G (p.Cys491Gly) c.1012T>G (p.Cys338Gly) | dbSNP |
22 | g.37073643A>G | CA411421173 | TMPRSS6 | c.1444T>C (p.Cys482Arg) c.1471T>C (p.Cys491Arg) c.1012T>C (p.Cys338Arg) | |
22 | g.37073643A>T | CA411421174 | TMPRSS6 | c.1444T>A (p.Cys482Ser) c.1471T>A (p.Cys491Ser) c.1012T>A (p.Cys338Ser) | |
22 | g.37073644A= | CA2404170534 | TMPRSS6 | c.1443T= (p.Val481=) c.1470T= (p.Val490=) c.1011T= (p.Val337=) | |
22 | g.37073644A>C | CA514482324 | TMPRSS6 | c.1443T>G (p.Val481=) c.1470T>G (p.Val490=) c.1011T>G (p.Val337=) | |
22 | g.37073644A>G | CA514482325 | TMPRSS6 | c.1443T>C (p.Val481=) c.1470T>C (p.Val490=) c.1011T>C (p.Val337=) | |
22 | g.37073644A>T | CA514482326 | TMPRSS6 | c.1443T>A (p.Val481=) c.1470T>A (p.Val490=) c.1011T>A (p.Val337=) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37073645A>C | CA411421175 | TMPRSS6 | c.1442T>G (p.Val481Gly) c.1469T>G (p.Val490Gly) c.1010T>G (p.Val337Gly) | |
22 | g.37073645A>G | CA411421176 | TMPRSS6 | c.1442T>C (p.Val481Ala) c.1469T>C (p.Val490Ala) c.1010T>C (p.Val337Ala) | |
22 | g.37073645A>T | CA411421178 | TMPRSS6 | c.1442T>A (p.Val481Asp) c.1469T>A (p.Val490Asp) c.1010T>A (p.Val337Asp) | |
22 | g.37073646C>A | CA411421180 | TMPRSS6 | c.1442-1G>T (n.1442-1G>T) c.1469-1G>T (n.1469-1G>T) c.1010-1G>T (n.1010-1G>T) | |
22 | g.37073646C>G | CA411421182 | TMPRSS6 | c.1442-1G>C (n.1442-1G>C) c.1469-1G>C (n.1469-1G>C) c.1010-1G>C (n.1010-1G>C) | |
22 | g.37073646C>T | CA411421183 | TMPRSS6 | c.1442-1G>A (n.1442-1G>A) c.1469-1G>A (n.1469-1G>A) c.1010-1G>A (n.1010-1G>A) | |
22 | g.37073647T>A | CA411421189 | TMPRSS6 | c.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 |
22 | g.37073647T>C | CA411421187 | TMPRSS6 | c.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 |
22 | g.37073647T>G | CA411421186 | TMPRSS6 | c.1442-2A>C (n.1442-2A>C) c.1469-2A>C (n.1469-2A>C) c.1010-2A>C (n.1010-2A>C) | |
22 | g.37073651_37073652del | CA2577737695 | TMPRSS6 | c.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 |
22 | g.37073649_37073652del | CA2656483386 | TMPRSS6 | c.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 |
22 | g.37073648G= | CA2404170535 | TMPRSS6 | c.1442-3C= (n.1442-3C=) c.1469-3C= (n.1469-3C=) c.1010-3C= (n.1010-3C=) | |
22 | g.37073648G>T | CA639176800 | TMPRSS6 | c.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 |
22 | g.37073650G>A | CA10215592 | TMPRSS6 | c.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 |
22 | g.37073650G>C | CA2656483391 | TMPRSS6 | c.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 |
22 | g.37073650G= | CA2404170536 | TMPRSS6 | c.1442-5C= (n.1442-5C=) c.1469-5C= (n.1469-5C=) c.1010-5C= (n.1010-5C=) | |
22 | g.37073650G>T | CA2577737696 | TMPRSS6 | c.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 |
22 | g.37073655del | CA2577737697 | TMPRSS6 | c.1442-7del (n.1442-7del) c.1469-7del (n.1469-7del) c.1010-7del (n.1010-7del) | |
22 | g.37073653G>A | CA2577737698 | TMPRSS6 | c.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 |
22 | g.37073653G>T | CA2656483395 | TMPRSS6 | c.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 |