Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38603790del | CA2499216744 | SCN5A | c.1816del (p.Ala606GlnfsTer17) c.1687del (p.Ala563GlnfsTer17) | ClinVar dbSNP gnomAD v4 |
3 | g.38603787C>A | CA433332853 | SCN5A | c.1815G>T (p.Gly605=) c.1686G>T (p.Gly562=) | gnomAD v4 |
3 | g.38603787C>G | CA433332855 | SCN5A | c.1815G>C (p.Gly605=) c.1686G>C (p.Gly562=) | |
3 | g.38603787C>T | CA433332857 | SCN5A | c.1815G>A (p.Gly605=) c.1686G>A (p.Gly562=) | gnomAD v4 |
3 | g.38603788C>A | CA352146047 | SCN5A | c.1814G>T (p.Gly605Val) c.1685G>T (p.Gly562Val) | |
3 | g.38603788C= | CA1358584844 | SCN5A | c.1814G= (p.Gly605=) c.1685G= (p.Gly562=) | |
3 | g.38603788C>G | CA352146049 | SCN5A | c.1814G>C (p.Gly605Ala) c.1685G>C (p.Gly562Ala) | ClinVar dbSNP |
3 | g.38603788C>T | CA352146052 | SCN5A | c.1814G>A (p.Gly605Glu) c.1685G>A (p.Gly562Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603789C>A | CA352146054 | SCN5A | c.1813G>T (p.Gly605Trp) c.1684G>T (p.Gly562Trp) | |
3 | g.38603789C= | CA1358584848 | SCN5A | c.1813G= (p.Gly605=) c.1684G= (p.Gly562=) | |
3 | g.38603789C>G | CA352146057 | SCN5A | c.1813G>C (p.Gly605Arg) c.1684G>C (p.Gly562Arg) | |
3 | g.38603789C>T | CA352146060 | SCN5A | c.1813G>A (p.Gly605Arg) c.1684G>A (p.Gly562Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.38603790C>A | CA433332860 | SCN5A | c.1812G>T (p.Leu604=) c.1683G>T (p.Leu561=) | ClinVar dbSNP gnomAD v4 |
3 | g.38603790C= | CA1358584856 | SCN5A | c.1812G= (p.Leu604=) c.1683G= (p.Leu561=) | |
3 | g.38603790C>G | CA433332862 | SCN5A | c.1812G>C (p.Leu604=) c.1683G>C (p.Leu561=) | |
3 | g.38603790C>T | CA433332864 | SCN5A | c.1812G>A (p.Leu604=) c.1683G>A (p.Leu561=) | ClinVar |
3 | g.38603791A>C | CA352146061 | SCN5A | c.1811T>G (p.Leu604Arg) c.1682T>G (p.Leu561Arg) | gnomAD v4 |
3 | g.38603791A>G | CA352146062 | SCN5A | c.1811T>C (p.Leu604Pro) c.1682T>C (p.Leu561Pro) | |
3 | g.38603791A>T | CA352146063 | SCN5A | c.1811T>A (p.Leu604Gln) c.1682T>A (p.Leu561Gln) | |
3 | g.38603792G>A | CA433332865 | SCN5A | c.1810C>T (p.Leu604=) c.1681C>T (p.Leu561=) | |
3 | g.38603792G>C | CA352146064 | SCN5A | c.1810C>G (p.Leu604Val) c.1681C>G (p.Leu561Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603792G= | CA1358584859 | SCN5A | c.1810C= (p.Leu604=) c.1681C= (p.Leu561=) | |
3 | g.38603792G>T | CA352146065 | SCN5A | c.1810C>A (p.Leu604Met) c.1681C>A (p.Leu561Met) | ClinVar |
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) |