Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38603890C>A | CA015234 | SCN5A | c.1712G>T (p.Ser571Ile) c.1583G>T (p.Ser528Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603890C= | CA1358584948 | SCN5A | c.1712G= (p.Ser571=) c.1583G= (p.Ser528=) | |
3 | g.38603890C>G | CA352146569 | SCN5A | c.1712G>C (p.Ser571Thr) c.1583G>C (p.Ser528Thr) | |
3 | g.38603890C>T | CA352146572 | SCN5A | c.1712G>A (p.Ser571Asn) c.1583G>A (p.Ser528Asn) | |
3 | g.38603890_38603891delinsCT | CA1358584949 | SCN5A | c.1711_1712delinsAG (p.Ser571=) c.1582_1583delinsAG (p.Ser528=) | |
3 | g.38603891del | CA015225 | SCN5A | c.1711del (p.Ser571ValfsTer?) c.1582del (p.Ser528ValfsTer?) | ClinVar dbSNP |
3 | g.38603891T>A | CA352146575 | SCN5A | c.1711A>T (p.Ser571Cys) c.1582A>T (p.Ser528Cys) | |
3 | g.38603891T>C | CA352146577 | SCN5A | c.1711A>G (p.Ser571Gly) c.1582A>G (p.Ser528Gly) | |
3 | g.38603891T>G | CA352146578 | SCN5A | c.1711A>C (p.Ser571Arg) c.1582A>C (p.Ser528Arg) | |
3 | g.38603892G>A | CA433333111 | SCN5A | c.1710C>T (p.Thr570=) c.1581C>T (p.Thr527=) | |
3 | g.38603892G>C | CA16611273 | SCN5A | c.1710C>G (p.Thr570=) c.1581C>G (p.Thr527=) | ClinVar dbSNP |
3 | g.38603892G= | CA1358584950 | SCN5A | c.1710C= (p.Thr570=) c.1581C= (p.Thr527=) | |
3 | g.38603892G>T | CA433333112 | SCN5A | c.1710C>A (p.Thr570=) c.1581C>A (p.Thr527=) | ClinVar dbSNP gnomAD v4 |
3 | g.38603893G>A | CA352146581 | SCN5A | c.1709C>T (p.Thr570Ile) c.1580C>T (p.Thr527Ile) | |
3 | g.38603893G>C | CA352146582 | SCN5A | c.1709C>G (p.Thr570Ser) c.1580C>G (p.Thr527Ser) | |
3 | g.38603893G= | CA1358584951 | SCN5A | c.1709C= (p.Thr570=) c.1580C= (p.Thr527=) | |
3 | g.38603893G>T | CA058593 | SCN5A | c.1709C>A (p.Thr570Asn) c.1580C>A (p.Thr527Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603894T>A | CA352146587 | SCN5A | c.1708A>T (p.Thr570Ser) c.1579A>T (p.Thr527Ser) | |
3 | g.38603894T>C | CA352146593 | SCN5A | c.1708A>G (p.Thr570Ala) c.1579A>G (p.Thr527Ala) | |
3 | g.38603894T>G | CA352146590 | SCN5A | c.1708A>C (p.Thr570Pro) c.1579A>C (p.Thr527Pro) | |
3 | g.38603895C>A | CA058580 | SCN5A | c.1707G>T (p.Arg569=) c.1578G>T (p.Arg526=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603895C= | CA1358584952 | SCN5A | c.1707G= (p.Arg569=) c.1578G= (p.Arg526=) | |
3 | g.38603895C>G | CA433333115 | SCN5A | c.1707G>C (p.Arg569=) c.1578G>C (p.Arg526=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603895C>T | CA433333117 | SCN5A | c.1707G>A (p.Arg569=) c.1578G>A (p.Arg526=) | gnomAD v4 |
3 | g.38603896C>A | CA352146597 | SCN5A | c.1706G>T (p.Arg569Leu) c.1577G>T (p.Arg526Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603896C= | CA1358584953 | SCN5A | c.1706G= (p.Arg569=) c.1577G= (p.Arg526=) | |
3 | g.38603896C>G | CA352146600 | SCN5A | c.1706G>C (p.Arg569Pro) c.1577G>C (p.Arg526Pro) | |
3 | g.38603896C>T | CA015215 | SCN5A | c.1706G>A (p.Arg569Gln) c.1577G>A (p.Arg526Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
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=) |