Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38603908C>A | CA352146671 | SCN5A | c.1694G>T (p.Trp565Leu) c.1565G>T (p.Trp522Leu) | |
3 | g.38603908C>G | CA352146673 | SCN5A | c.1694G>C (p.Trp565Ser) c.1565G>C (p.Trp522Ser) | |
3 | g.38603908C>T | CA352146675 | SCN5A | c.1694G>A (p.Trp565Ter) c.1565G>A (p.Trp522Ter) | |
3 | g.38603909A= | CA1358584962 | SCN5A | c.1693T= (p.Trp565=) c.1564T= (p.Trp522=) | |
3 | g.38603909A>C | CA352146682 | SCN5A | c.1693T>G (p.Trp565Gly) c.1564T>G (p.Trp522Gly) | |
3 | g.38603909A>G | CA352146678 | SCN5A | c.1693T>C (p.Trp565Arg) c.1564T>C (p.Trp522Arg) | dbSNP |
3 | g.38603909A>T | CA352146680 | SCN5A | c.1693T>A (p.Trp565Arg) c.1564T>A (p.Trp522Arg) | |
3 | g.38603910G>A | CA433332962 | SCN5A | c.1692C>T (p.Pro564=) c.1563C>T (p.Pro521=) | |
3 | g.38603910G>C | CA433332964 | SCN5A | c.1692C>G (p.Pro564=) c.1563C>G (p.Pro521=) | |
3 | g.38603910G>T | CA433332967 | SCN5A | c.1692C>A (p.Pro564=) c.1563C>A (p.Pro521=) | |
3 | g.38603911G>A | CA352146684 | SCN5A | c.1691C>T (p.Pro564Leu) c.1562C>T (p.Pro521Leu) | |
3 | g.38603911G>C | CA352146686 | SCN5A | c.1691C>G (p.Pro564Arg) c.1562C>G (p.Pro521Arg) | |
3 | g.38603911G>T | CA352146689 | SCN5A | c.1691C>A (p.Pro564His) c.1562C>A (p.Pro521His) | |
3 | g.38603912G>A | CA352146692 | SCN5A | c.1690C>T (p.Pro564Ser) c.1561C>T (p.Pro521Ser) | ClinVar dbSNP |
3 | g.38603912G>C | CA352146703 | SCN5A | c.1690C>G (p.Pro564Ala) c.1561C>G (p.Pro521Ala) | |
3 | g.38603912G= | CA1358584963 | SCN5A | c.1690C= (p.Pro564=) c.1561C= (p.Pro521=) | |
3 | g.38603912G>T | CA352146706 | SCN5A | c.1690C>A (p.Pro564Thr) c.1561C>A (p.Pro521Thr) | |
3 | g.38603913C>A | CA433332971 | SCN5A | c.1689G>T (p.Val563=) c.1560G>T (p.Val520=) | |
3 | g.38603913C>G | CA433332972 | SCN5A | c.1689G>C (p.Val563=) c.1560G>C (p.Val520=) | |
3 | g.38603913C>T | CA433332973 | SCN5A | c.1689G>A (p.Val563=) c.1560G>A (p.Val520=) | gnomAD v4 |
3 | g.38603914A= | CA1358584964 | SCN5A | c.1688T= (p.Val563=) c.1559T= (p.Val520=) | |
3 | g.38603914A>C | CA352146709 | SCN5A | c.1688T>G (p.Val563Gly) c.1559T>G (p.Val520Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603914A>G | CA352146712 | SCN5A | c.1688T>C (p.Val563Ala) c.1559T>C (p.Val520Ala) | |
3 | g.38603914A>T | CA352146714 | SCN5A | c.1688T>A (p.Val563Glu) c.1559T>A (p.Val520Glu) | |
3 | g.38603915C>A | CA352146717 | SCN5A | c.1687G>T (p.Val563Leu) c.1558G>T (p.Val520Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.38603915C>G | CA352146720 | SCN5A | c.1687G>C (p.Val563Leu) c.1558G>C (p.Val520Leu) | gnomAD v4 |
3 | g.38603915C>T | CA352146722 | SCN5A | c.1687G>A (p.Val563Met) c.1558G>A (p.Val520Met) | |
3 | g.38603916C>A | CA433332986 | SCN5A | c.1686G>T (p.Leu562=) c.1557G>T (p.Leu519=) | |
3 | g.38603916C>G | CA433332988 | SCN5A | c.1686G>C (p.Leu562=) c.1557G>C (p.Leu519=) | |
3 | g.38603916C>T | CA433332992 | SCN5A | c.1686G>A (p.Leu562=) c.1557G>A (p.Leu519=) | |
3 | g.38603917A>C | CA352146727 | SCN5A | c.1685T>G (p.Leu562Arg) c.1556T>G (p.Leu519Arg) | |
3 | g.38603917A>G | CA352146731 | SCN5A | c.1685T>C (p.Leu562Pro) c.1556T>C (p.Leu519Pro) | gnomAD v4 |
3 | g.38603917A>T | CA352146729 | SCN5A | c.1685T>A (p.Leu562Gln) c.1556T>A (p.Leu519Gln) | |
3 | g.38603918G>A | CA433333007 | SCN5A | c.1684C>T (p.Leu562=) c.1555C>T (p.Leu519=) | dbSNP gnomAD v2 |
3 | g.38603918G>C | CA352146734 | SCN5A | c.1684C>G (p.Leu562Val) c.1555C>G (p.Leu519Val) | |
3 | g.38603918G= | CA1358584965 | SCN5A | c.1684C= (p.Leu562=) c.1555C= (p.Leu519=) | |
3 | g.38603918G>T | CA352146737 | SCN5A | c.1684C>A (p.Leu562Met) c.1555C>A (p.Leu519Met) | |
3 | g.38603919C>A | CA433333010 | SCN5A | c.1683G>T (p.Leu561=) c.1554G>T (p.Leu518=) | |
3 | g.38603919C= | CA1358584966 | SCN5A | c.1683G= (p.Leu561=) c.1554G= (p.Leu518=) | |
3 | g.38603919C>G | CA433333013 | SCN5A | c.1683G>C (p.Leu561=) c.1554G>C (p.Leu518=) | |
3 | g.38603919C>T | CA433333012 | SCN5A | c.1683G>A (p.Leu561=) c.1554G>A (p.Leu518=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603920A>C | CA352146740 | SCN5A | c.1682T>G (p.Leu561Arg) c.1553T>G (p.Leu518Arg) | |
3 | g.38603920A>G | CA352146742 | SCN5A | c.1682T>C (p.Leu561Pro) c.1553T>C (p.Leu518Pro) | |
3 | g.38603920A>T | CA352146745 | SCN5A | c.1682T>A (p.Leu561Gln) c.1553T>A (p.Leu518Gln) | |
3 | g.38603921G>A | CA015163 | SCN5A | c.1681C>T (p.Leu561=) c.1552C>T (p.Leu518=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603921G>C | CA352146750 | SCN5A | c.1681C>G (p.Leu561Val) c.1552C>G (p.Leu518Val) | |
3 | g.38603921G= | CA1358584967 | SCN5A | c.1681C= (p.Leu561=) c.1552C= (p.Leu518=) | |
3 | g.38603921G>T | CA352146752 | SCN5A | c.1681C>A (p.Leu561Met) c.1552C>A (p.Leu518Met) | |
3 | g.38603922T>A | CA433333024 | SCN5A | c.1680A>T (p.Ser560=) c.1551A>T (p.Ser517=) | |
3 | g.38603922T>C | CA433333021 | SCN5A | c.1680A>G (p.Ser560=) c.1551A>G (p.Ser517=) |