Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.37073550C>A | CA411420742 | TMPRSS6 | c.1537G>T (p.Glu513Ter) c.1564G>T (p.Glu522Ter) c.1105G>T (p.Glu369Ter) | COSMIC COSMIC |
22 | g.37073550C= | CA2404170503 | TMPRSS6 | c.1537G= (p.Glu513=) c.1564G= (p.Glu522=) c.1105G= (p.Glu369=) | |
22 | g.37073550C>G | CA411420744 | TMPRSS6 | c.1537G>C (p.Glu513Gln) c.1564G>C (p.Glu522Gln) c.1105G>C (p.Glu369Gln) | |
22 | g.37073550C>T | CA129479 | TMPRSS6 | c.1537G>A (p.Glu513Lys) c.1564G>A (p.Glu522Lys) c.1105G>A (p.Glu369Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
22 | g.37073551G>A | CA10215572 | TMPRSS6 | c.1536C>T (p.Asp512=) c.1563C>T (p.Asp521=) c.1104C>T (p.Asp368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.37073551G>C | CA411420748 | TMPRSS6 | c.1536C>G (p.Asp512Glu) c.1563C>G (p.Asp521Glu) c.1104C>G (p.Asp368Glu) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.37073551G= | CA2404170504 | TMPRSS6 | c.1536C= (p.Asp512=) c.1563C= (p.Asp521=) c.1104C= (p.Asp368=) | |
22 | g.37073551G>T | CA411420750 | TMPRSS6 | c.1536C>A (p.Asp512Glu) c.1563C>A (p.Asp521Glu) c.1104C>A (p.Asp368Glu) | dbSNP gnomAD v4 |
22 | g.37073552T>A | CA411420756 | TMPRSS6 | c.1535A>T (p.Asp512Val) c.1562A>T (p.Asp521Val) c.1103A>T (p.Asp368Val) | |
22 | g.37073552T>C | CA411420754 | TMPRSS6 | c.1535A>G (p.Asp512Gly) c.1562A>G (p.Asp521Gly) c.1103A>G (p.Asp368Gly) | |
22 | g.37073552T>G | CA411420752 | TMPRSS6 | c.1535A>C (p.Asp512Ala) c.1562A>C (p.Asp521Ala) c.1103A>C (p.Asp368Ala) | |
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 |