Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189562025G>A | CA2024048 | SLC40A1 | c.1569C>T (p.Leu523=) c.1449C>T (p.Leu483=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189562025G>C | CA430502468 | SLC40A1 | c.1569C>G (p.Leu523=) c.1449C>G (p.Leu483=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189562025G= | CA1315652810 | SLC40A1 | c.1569C= (p.Leu523=) c.1449C= (p.Leu483=) | |
2 | g.189562025G>T | CA430502469 | SLC40A1 | c.1569C>A (p.Leu523=) c.1449C>A (p.Leu483=) | gnomAD v4 |
2 | g.189562026A>C | CA349986721 | SLC40A1 | c.1568T>G (p.Leu523Arg) c.1448T>G (p.Leu483Arg) | |
2 | g.189562026A>G | CA349986723 | SLC40A1 | c.1568T>C (p.Leu523Pro) c.1448T>C (p.Leu483Pro) | |
2 | g.189562026A>T | CA349986722 | SLC40A1 | c.1568T>A (p.Leu523His) c.1448T>A (p.Leu483His) | |
2 | g.189562027G>A | CA349986724 | SLC40A1 | c.1567C>T (p.Leu523Phe) c.1447C>T (p.Leu483Phe) | |
2 | g.189562027G>C | CA349986725 | SLC40A1 | c.1567C>G (p.Leu523Val) c.1447C>G (p.Leu483Val) | dbSNP gnomAD v2 |
2 | g.189562027G= | CA1315652812 | SLC40A1 | c.1567C= (p.Leu523=) c.1447C= (p.Leu483=) | |
2 | g.189562027G>T | CA349986726 | SLC40A1 | c.1567C>A (p.Leu523Ile) c.1447C>A (p.Leu483Ile) | |
2 | g.189562028C>A | CA349986727 | SLC40A1 | c.1566G>T (p.Leu522Phe) c.1446G>T (p.Leu482Phe) | |
2 | g.189562028C= | CA1315652814 | SLC40A1 | c.1566G= (p.Leu522=) c.1446G= (p.Leu482=) | |
2 | g.189562028C>G | CA349986728 | SLC40A1 | c.1566G>C (p.Leu522Phe) c.1446G>C (p.Leu482Phe) | |
2 | g.189562028C>T | CA430502474 | SLC40A1 | c.1566G>A (p.Leu522=) c.1446G>A (p.Leu482=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189562029A>C | CA349986729 | SLC40A1 | c.1565T>G (p.Leu522Trp) c.1445T>G (p.Leu482Trp) | |
2 | g.189562029A>G | CA349986731 | SLC40A1 | c.1565T>C (p.Leu522Ser) c.1445T>C (p.Leu482Ser) | |
2 | g.189562029A>T | CA349986730 | SLC40A1 | c.1565T>A (p.Leu522Ter) c.1445T>A (p.Leu482Ter) | |
2 | g.189562030A>C | CA349986732 | SLC40A1 | c.1564T>G (p.Leu522Val) c.1444T>G (p.Leu482Val) | |
2 | g.189562030A>G | CA430502478 | SLC40A1 | c.1564T>C (p.Leu522=) c.1444T>C (p.Leu482=) | gnomAD v4 |
2 | g.189562030A>T | CA349986733 | SLC40A1 | c.1564T>A (p.Leu522Met) c.1444T>A (p.Leu482Met) | |
2 | g.189562031del | CA430502480 | SLC40A1 | c.1563del (p.Leu522CysfsTer4) c.1443del (p.Leu482CysfsTer4) | COSMIC |
2 | g.189562031G>A | CA430502482 | SLC40A1 | c.1563C>T (p.Gly521=) c.1443C>T (p.Gly481=) | |
2 | g.189562031G>C | CA430502481 | SLC40A1 | c.1563C>G (p.Gly521=) c.1443C>G (p.Gly481=) | |
2 | g.189562031G>T | CA430502479 | SLC40A1 | c.1563C>A (p.Gly521=) c.1443C>A (p.Gly481=) | |
2 | g.189562032C>A | CA349986734 | SLC40A1 | c.1562G>T (p.Gly521Val) c.1442G>T (p.Gly481Val) | |
2 | g.189562032C>G | CA349986735 | SLC40A1 | c.1562G>C (p.Gly521Ala) c.1442G>C (p.Gly481Ala) | |
2 | g.189562032C>T | CA349986736 | SLC40A1 | c.1562G>A (p.Gly521Asp) c.1442G>A (p.Gly481Asp) | |
2 | g.189562033C>A | CA349986737 | SLC40A1 | c.1561G>T (p.Gly521Cys) c.1441G>T (p.Gly481Cys) | |
2 | g.189562033C>G | CA349986738 | SLC40A1 | c.1561G>C (p.Gly521Arg) c.1441G>C (p.Gly481Arg) | |
2 | g.189562033C>T | CA349986739 | SLC40A1 | c.1561G>A (p.Gly521Ser) c.1441G>A (p.Gly481Ser) | |
2 | g.189562034A>C | CA349986740 | SLC40A1 | c.1560T>G (p.Phe520Leu) c.1440T>G (p.Phe480Leu) | |
2 | g.189562034A>G | CA430502483 | SLC40A1 | c.1560T>C (p.Phe520=) c.1440T>C (p.Phe480=) | |
2 | g.189562034A>T | CA349986741 | SLC40A1 | c.1560T>A (p.Phe520Leu) c.1440T>A (p.Phe480Leu) | |
2 | g.189562035A>C | CA349986742 | SLC40A1 | c.1559T>G (p.Phe520Cys) c.1439T>G (p.Phe480Cys) | |
2 | g.189562035A>G | CA349986743 | SLC40A1 | c.1559T>C (p.Phe520Ser) c.1439T>C (p.Phe480Ser) | |
2 | g.189562035A>T | CA349986744 | SLC40A1 | c.1559T>A (p.Phe520Tyr) c.1439T>A (p.Phe480Tyr) | |
2 | g.189562036A>C | CA349986745 | SLC40A1 | c.1558T>G (p.Phe520Val) c.1438T>G (p.Phe480Val) | |
2 | g.189562036A>G | CA349986747 | SLC40A1 | c.1558T>C (p.Phe520Leu) c.1438T>C (p.Phe480Leu) | |
2 | g.189562036A>T | CA349986746 | SLC40A1 | c.1558T>A (p.Phe520Ile) c.1438T>A (p.Phe480Ile) | |
2 | g.189562037A>C | CA430502484 | SLC40A1 | c.1557T>G (p.Ala519=) c.1437T>G (p.Ala479=) | |
2 | g.189562037A>G | CA430502485 | SLC40A1 | c.1557T>C (p.Ala519=) c.1437T>C (p.Ala479=) | |
2 | g.189562037A>T | CA430502488 | SLC40A1 | c.1557T>A (p.Ala519=) c.1437T>A (p.Ala479=) | |
2 | g.189562038G>A | CA349986748 | SLC40A1 | c.1556C>T (p.Ala519Val) c.1436C>T (p.Ala479Val) | |
2 | g.189562038G>C | CA349986749 | SLC40A1 | c.1556C>G (p.Ala519Gly) c.1436C>G (p.Ala479Gly) | |
2 | g.189562038G>T | CA349986750 | SLC40A1 | c.1556C>A (p.Ala519Asp) c.1436C>A (p.Ala479Asp) | |
2 | g.189562039C>A | CA349986751 | SLC40A1 | c.1555G>T (p.Ala519Ser) c.1435G>T (p.Ala479Ser) | |
2 | g.189562039C>G | CA349986752 | SLC40A1 | c.1555G>C (p.Ala519Pro) c.1435G>C (p.Ala479Pro) | |
2 | g.189562039C>T | CA349986753 | SLC40A1 | c.1555G>A (p.Ala519Thr) c.1435G>A (p.Ala479Thr) | |
2 | g.189562040T>A | CA349986755 | SLC40A1 | c.1554A>T (p.Glu518Asp) c.1434A>T (p.Glu478Asp) | gnomAD v4 |