Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38603793T>A | CA352146066 | SCN5A | c.1809A>T (p.Leu603Phe) c.1680A>T (p.Leu560Phe) | |
3 | g.38603793T>C | CA433332867 | SCN5A | c.1809A>G (p.Leu603=) c.1680A>G (p.Leu560=) | gnomAD v4 |
3 | g.38603793T>G | CA352146067 | SCN5A | c.1809A>C (p.Leu603Phe) c.1680A>C (p.Leu560Phe) | |
3 | g.38603794A>C | CA352146070 | SCN5A | c.1808T>G (p.Leu603Ter) c.1679T>G (p.Leu560Ter) | |
3 | g.38603794A>G | CA352146072 | SCN5A | c.1808T>C (p.Leu603Ser) c.1679T>C (p.Leu560Ser) | |
3 | g.38603794A>T | CA352146069 | SCN5A | c.1808T>A (p.Leu603Ter) c.1679T>A (p.Leu560Ter) | |
3 | g.38603795A>C | CA352146076 | SCN5A | c.1807T>G (p.Leu603Val) c.1678T>G (p.Leu560Val) | |
3 | g.38603795A>G | CA433332869 | SCN5A | c.1807T>C (p.Leu603=) c.1678T>C (p.Leu560=) | |
3 | g.38603795A>T | CA352146074 | SCN5A | c.1807T>A (p.Leu603Ile) c.1678T>A (p.Leu560Ile) | |
3 | g.38603796T>A | CA433332872 | SCN5A | c.1806A>T (p.Ser602=) c.1677A>T (p.Ser559=) | |
3 | g.38603796T>C | CA058837 | SCN5A | c.1806A>G (p.Ser602=) c.1677A>G (p.Ser559=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603796T>G | CA433332871 | SCN5A | c.1806A>C (p.Ser602=) c.1677A>C (p.Ser559=) | ClinVar gnomAD v4 |
3 | g.38603796T= | CA1358584863 | SCN5A | c.1806A= (p.Ser602=) c.1677A= (p.Ser559=) | |
3 | g.38603797G>A | CA352146077 | SCN5A | c.1805C>T (p.Ser602Leu) c.1676C>T (p.Ser559Leu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603797G>C | CA352146081 | SCN5A | c.1805C>G (p.Ser602Ter) c.1676C>G (p.Ser559Ter) | |
3 | g.38603797G= | CA1358584868 | SCN5A | c.1805C= (p.Ser602=) c.1676C= (p.Ser559=) | |
3 | g.38603797G>T | CA352146079 | SCN5A | c.1805C>A (p.Ser602Ter) c.1676C>A (p.Ser559Ter) | COSMIC COSMIC COSMIC |
3 | g.38603798A>C | CA352146083 | SCN5A | c.1804T>G (p.Ser602Ala) c.1675T>G (p.Ser559Ala) | |
3 | g.38603798A>G | CA352146086 | SCN5A | c.1804T>C (p.Ser602Pro) c.1675T>C (p.Ser559Pro) | |
3 | g.38603798A>T | CA352146084 | SCN5A | c.1804T>A (p.Ser602Thr) c.1675T>A (p.Ser559Thr) | |
3 | g.38603799G>A | CA433332877 | SCN5A | c.1803C>T (p.Val601=) c.1674C>T (p.Val558=) | COSMIC COSMIC COSMIC |
3 | g.38603799G>C | CA433332879 | SCN5A | c.1803C>G (p.Val601=) c.1674C>G (p.Val558=) | |
3 | g.38603799G>T | CA433332878 | SCN5A | c.1803C>A (p.Val601=) c.1674C>A (p.Val558=) | |
3 | g.38603800A= | CA1358584871 | SCN5A | c.1802T= (p.Val601=) c.1673T= (p.Val558=) | |
3 | g.38603800A>C | CA352146090 | SCN5A | c.1802T>G (p.Val601Gly) c.1673T>G (p.Val558Gly) | |
3 | g.38603800A>G | CA015370 | SCN5A | c.1802T>C (p.Val601Ala) c.1673T>C (p.Val558Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.38603800A>T | CA352146094 | SCN5A | c.1802T>A (p.Val601Asp) c.1673T>A (p.Val558Asp) | |
3 | g.38603801C>A | CA352146101 | SCN5A | c.1801G>T (p.Val601Phe) c.1672G>T (p.Val558Phe) | |
3 | g.38603801C>G | CA352146102 | SCN5A | c.1801G>C (p.Val601Leu) c.1672G>C (p.Val558Leu) | ClinVar dbSNP |
3 | g.38603801C>T | CA352146103 | SCN5A | c.1801G>A (p.Val601Ile) c.1672G>A (p.Val558Ile) | |
3 | g.38603802C>A | CA433332884 | SCN5A | c.1800G>T (p.Val600=) c.1671G>T (p.Val557=) | gnomAD v4 |
3 | g.38603802C= | CA1358584876 | SCN5A | c.1800G= (p.Val600=) c.1671G= (p.Val557=) | |
3 | g.38603802C>G | CA433332885 | SCN5A | c.1800G>C (p.Val600=) c.1671G>C (p.Val557=) | |
3 | g.38603802C>T | CA058828 | SCN5A | c.1800G>A (p.Val600=) c.1671G>A (p.Val557=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603803A= | CA1358584877 | SCN5A | c.1799T= (p.Val600=) c.1670T= (p.Val557=) | |
3 | g.38603803A>C | CA352146105 | SCN5A | c.1799T>G (p.Val600Gly) c.1670T>G (p.Val557Gly) | |
3 | g.38603803A>G | CA352146106 | SCN5A | c.1799T>C (p.Val600Ala) c.1670T>C (p.Val557Ala) | dbSNP gnomAD v4 |
3 | g.38603803A>T | CA352146108 | SCN5A | c.1799T>A (p.Val600Glu) c.1670T>A (p.Val557Glu) | |
3 | g.38603804C>A | CA352146113 | SCN5A | c.1798G>T (p.Val600Leu) c.1669G>T (p.Val557Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603804C= | CA1358584878 | SCN5A | c.1798G= (p.Val600=) c.1669G= (p.Val557=) | |
3 | g.38603804C>G | CA352146112 | SCN5A | c.1798G>C (p.Val600Leu) c.1669G>C (p.Val557Leu) | ClinVar dbSNP |
3 | g.38603804C>T | CA352146110 | SCN5A | c.1798G>A (p.Val600Met) c.1669G>A (p.Val557Met) | |
3 | g.38603807del | CA2665114730 | SCN5A | c.1798del (p.Val600TrpfsTer23) c.1669del (p.Val557TrpfsTer23) | gnomAD v4 |
3 | g.38603805C>A | CA433332889 | SCN5A | c.1797G>T (p.Gly599=) c.1668G>T (p.Gly556=) | |
3 | g.38603805C>G | CA433332890 | SCN5A | c.1797G>C (p.Gly599=) c.1668G>C (p.Gly556=) | |
3 | g.38603805C>T | CA433332891 | SCN5A | c.1797G>A (p.Gly599=) c.1668G>A (p.Gly556=) | COSMIC COSMIC COSMIC |
3 | g.38603806C>A | CA352146115 | SCN5A | c.1796G>T (p.Gly599Val) c.1667G>T (p.Gly556Val) | |
3 | g.38603806C>G | CA352146118 | SCN5A | c.1796G>C (p.Gly599Ala) c.1667G>C (p.Gly556Ala) | |
3 | g.38603806C>T | CA352146120 | SCN5A | c.1796G>A (p.Gly599Glu) c.1667G>A (p.Gly556Glu) | |
3 | g.38603807C>A | CA352146122 | SCN5A | c.1795G>T (p.Gly599Trp) c.1666G>T (p.Gly556Trp) | ClinVar gnomAD v4 |