Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38603897G>A | CA015203 | SCN5A | c.1705C>T (p.Arg569Trp) c.1576C>T (p.Arg526Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603897G>C | CA015193 | SCN5A | c.1705C>G (p.Arg569Gly) c.1576C>G (p.Arg526Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603897G= | CA1358584954 | SCN5A | c.1705C= (p.Arg569=) c.1576C= (p.Arg526=) | |
3 | g.38603897G>T | CA433333121 | SCN5A | c.1705C>A (p.Arg569=) c.1576C>A (p.Arg526=) | |
3 | g.38603898dup | CA2586971910 | SCN5A | c.1705dup (p.Arg569ProfsTer?) c.1576dup (p.Arg526ProfsTer?) | |
3 | g.38603898G>A | CA058553 | SCN5A | c.1704C>T (p.Arg568=) c.1575C>T (p.Arg525=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603898G>C | CA433333122 | SCN5A | c.1704C>G (p.Arg568=) c.1575C>G (p.Arg525=) | |
3 | g.38603898G= | CA1358584955 | SCN5A | c.1704C= (p.Arg568=) c.1575C= (p.Arg525=) | |
3 | g.38603898G>T | CA433333123 | SCN5A | c.1704C>A (p.Arg568=) c.1575C>A (p.Arg525=) | |
3 | g.38603899C>A | CA352146612 | SCN5A | c.1703G>T (p.Arg568Leu) c.1574G>T (p.Arg525Leu) | gnomAD v4 |
3 | g.38603899C= | CA1358584956 | SCN5A | c.1703G= (p.Arg568=) c.1574G= (p.Arg525=) | |
3 | g.38603899C>G | CA352146614 | SCN5A | c.1703G>C (p.Arg568Pro) c.1574G>C (p.Arg525Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603899C>T | CA015185 | SCN5A | c.1703G>A (p.Arg568His) c.1574G>A (p.Arg525His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603899dup | CA2665114731 | SCN5A | c.1703dup (p.Arg569ProfsTer?) c.1574dup (p.Arg526ProfsTer?) | gnomAD v4 |
3 | g.38603900G>A | CA058533 | SCN5A | c.1702C>T (p.Arg568Cys) c.1573C>T (p.Arg525Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603900G>C | CA352146622 | SCN5A | c.1702C>G (p.Arg568Gly) c.1573C>G (p.Arg525Gly) | |
3 | g.38603900G= | CA1358584957 | SCN5A | c.1702C= (p.Arg568=) c.1573C= (p.Arg525=) | |
3 | g.38603900G>T | CA352146619 | SCN5A | c.1702C>A (p.Arg568Ser) c.1573C>A (p.Arg525Ser) | |
3 | g.38603901C>A | CA433333126 | SCN5A | c.1701G>T (p.Leu567=) c.1572G>T (p.Leu524=) | |
3 | g.38603901C>G | CA433333127 | SCN5A | c.1701G>C (p.Leu567=) c.1572G>C (p.Leu524=) | |
3 | g.38603901C>T | CA433333128 | SCN5A | c.1701G>A (p.Leu567=) c.1572G>A (p.Leu524=) | gnomAD v4 |
3 | g.38603902A= | CA1358584958 | SCN5A | c.1700T= (p.Leu567=) c.1571T= (p.Leu524=) | |
3 | g.38603902A>C | CA352146628 | SCN5A | c.1700T>G (p.Leu567Arg) c.1571T>G (p.Leu524Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603902A>G | CA352146631 | SCN5A | c.1700T>C (p.Leu567Pro) c.1571T>C (p.Leu524Pro) | |
3 | g.38603902A>T | CA015173 | SCN5A | c.1700T>A (p.Leu567Gln) c.1571T>A (p.Leu524Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603903G>A | CA433333130 | SCN5A | c.1699C>T (p.Leu567=) c.1570C>T (p.Leu524=) | gnomAD v4 |
3 | g.38603903G>C | CA352146633 | SCN5A | c.1699C>G (p.Leu567Val) c.1570C>G (p.Leu524Val) | |
3 | g.38603903G>T | CA352146636 | SCN5A | c.1699C>A (p.Leu567Met) c.1570C>A (p.Leu524Met) | gnomAD v4 |
3 | g.38603904G>A | CA058521 | SCN5A | c.1698C>T (p.Pro566=) c.1569C>T (p.Pro523=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603904G>C | CA433333132 | SCN5A | c.1698C>G (p.Pro566=) c.1569C>G (p.Pro523=) | |
3 | g.38603904G= | CA1358584959 | SCN5A | c.1698C= (p.Pro566=) c.1569C= (p.Pro523=) | |
3 | g.38603904G>T | CA433333134 | SCN5A | c.1698C>A (p.Pro566=) c.1569C>A (p.Pro523=) | |
3 | g.38603905G>A | CA352146640 | SCN5A | c.1697C>T (p.Pro566Leu) c.1568C>T (p.Pro523Leu) | gnomAD v4 |
3 | g.38603905G>C | CA352146643 | SCN5A | c.1697C>G (p.Pro566Arg) c.1568C>G (p.Pro523Arg) | |
3 | g.38603905G>T | CA352146645 | SCN5A | c.1697C>A (p.Pro566His) c.1568C>A (p.Pro523His) | |
3 | g.38603906G>A | CA352146649 | SCN5A | c.1696C>T (p.Pro566Ser) c.1567C>T (p.Pro523Ser) | ClinVar dbSNP |
3 | g.38603906G>C | CA352146655 | SCN5A | c.1696C>G (p.Pro566Ala) c.1567C>G (p.Pro523Ala) | |
3 | g.38603906G= | CA1358584960 | SCN5A | c.1696C= (p.Pro566=) c.1567C= (p.Pro523=) | |
3 | g.38603906G>T | CA352146659 | SCN5A | c.1696C>A (p.Pro566Thr) c.1567C>A (p.Pro523Thr) | |
3 | g.38603907C>A | CA352146662 | SCN5A | c.1695G>T (p.Trp565Cys) c.1566G>T (p.Trp522Cys) | |
3 | g.38603907C= | CA1358584961 | SCN5A | c.1695G= (p.Trp565=) c.1566G= (p.Trp522=) | |
3 | g.38603907C>G | CA352146667 | SCN5A | c.1695G>C (p.Trp565Cys) c.1566G>C (p.Trp522Cys) | |
3 | g.38603907C>T | CA352146669 | SCN5A | c.1695G>A (p.Trp565Ter) c.1566G>A (p.Trp522Ter) | dbSNP |
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) |