Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38603760T>A | CA433332822 | SCN5A | c.1842A>T (p.Pro614=) c.1713A>T (p.Pro571=) | |
3 | g.38603760T>C | CA015419 | SCN5A | c.1842A>G (p.Pro614=) c.1713A>G (p.Pro571=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603760T>G | CA433332823 | SCN5A | c.1842A>C (p.Pro614=) c.1713A>C (p.Pro571=) | |
3 | g.38603760T= | CA1358584772 | SCN5A | c.1842A= (p.Pro614=) c.1713A= (p.Pro571=) | |
3 | g.38603761G>A | CA352145947 | SCN5A | c.1841C>T (p.Pro614Leu) c.1712C>T (p.Pro571Leu) | |
3 | g.38603761G>C | CA352145946 | SCN5A | c.1841C>G (p.Pro614Arg) c.1712C>G (p.Pro571Arg) | gnomAD v4 |
3 | g.38603761G>T | CA352145944 | SCN5A | c.1841C>A (p.Pro614Gln) c.1712C>A (p.Pro571Gln) | |
3 | g.38603764del | CA2665114728 | SCN5A | c.1841del (p.Pro614GlnfsTer9) c.1712del (p.Pro571GlnfsTer9) | gnomAD v4 |
3 | g.38603762G>A | CA015410 | SCN5A | c.1840C>T (p.Pro614Ser) c.1711C>T (p.Pro571Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603762G>C | CA352145950 | SCN5A | c.1840C>G (p.Pro614Ala) c.1711C>G (p.Pro571Ala) | |
3 | g.38603762G= | CA1358584778 | SCN5A | c.1840C= (p.Pro614=) c.1711C= (p.Pro571=) | |
3 | g.38603762G>T | CA352145952 | SCN5A | c.1840C>A (p.Pro614Thr) c.1711C>A (p.Pro571Thr) | |
3 | g.38603763G>A | CA433332824 | SCN5A | c.1839C>T (p.Ser613=) c.1710C>T (p.Ser570=) | gnomAD v4 |
3 | g.38603763G>C | CA433332825 | SCN5A | c.1839C>G (p.Ser613=) c.1710C>G (p.Ser570=) | |
3 | g.38603763G>T | CA433332826 | SCN5A | c.1839C>A (p.Ser613=) c.1710C>A (p.Ser570=) | |
3 | g.38603764G>A | CA352145954 | SCN5A | c.1838C>T (p.Ser613Phe) c.1709C>T (p.Ser570Phe) | |
3 | g.38603764G>C | CA352145956 | SCN5A | c.1838C>G (p.Ser613Cys) c.1709C>G (p.Ser570Cys) | |
3 | g.38603764G>T | CA352145957 | SCN5A | c.1838C>A (p.Ser613Tyr) c.1709C>A (p.Ser570Tyr) | |
3 | g.38603765A>C | CA352145962 | SCN5A | c.1837T>G (p.Ser613Ala) c.1708T>G (p.Ser570Ala) | |
3 | g.38603765A>G | CA352145960 | SCN5A | c.1837T>C (p.Ser613Pro) c.1708T>C (p.Ser570Pro) | |
3 | g.38603765A>T | CA352145958 | SCN5A | c.1837T>A (p.Ser613Thr) c.1708T>A (p.Ser570Thr) | |
3 | g.38603766T>A | CA433332829 | SCN5A | c.1836A>T (p.Thr612=) c.1707A>T (p.Thr569=) | |
3 | g.38603766T>C | CA433332827 | SCN5A | c.1836A>G (p.Thr612=) c.1707A>G (p.Thr569=) | |
3 | g.38603766T>G | CA433332828 | SCN5A | c.1836A>C (p.Thr612=) c.1707A>C (p.Thr569=) | |
3 | g.38603767G>A | CA352145964 | SCN5A | c.1835C>T (p.Thr612Ile) c.1706C>T (p.Thr569Ile) | ClinVar gnomAD v4 |
3 | g.38603767G>C | CA352145967 | SCN5A | c.1835C>G (p.Thr612Arg) c.1706C>G (p.Thr569Arg) | |
3 | g.38603767G>T | CA352145965 | SCN5A | c.1835C>A (p.Thr612Lys) c.1706C>A (p.Thr569Lys) | |
3 | g.38603768T>A | CA352145970 | SCN5A | c.1834A>T (p.Thr612Ser) c.1705A>T (p.Thr569Ser) | |
3 | g.38603768T>C | CA352145971 | SCN5A | c.1834A>G (p.Thr612Ala) c.1705A>G (p.Thr569Ala) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.38603768T>G | CA352145973 | SCN5A | c.1834A>C (p.Thr612Pro) c.1705A>C (p.Thr569Pro) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603768T= | CA1358584786 | SCN5A | c.1834A= (p.Thr612=) c.1705A= (p.Thr569=) | |
3 | g.38603769G>A | CA433332830 | SCN5A | c.1833C>T (p.Ala611=) c.1704C>T (p.Ala568=) | |
3 | g.38603769G>C | CA433332831 | SCN5A | c.1833C>G (p.Ala611=) c.1704C>G (p.Ala568=) | |
3 | g.38603769G>T | CA433332832 | SCN5A | c.1833C>A (p.Ala611=) c.1704C>A (p.Ala568=) | |
3 | g.38603770G>A | CA352145975 | SCN5A | c.1832C>T (p.Ala611Val) c.1703C>T (p.Ala568Val) | |
3 | g.38603770G>C | CA352145977 | SCN5A | c.1832C>G (p.Ala611Gly) c.1703C>G (p.Ala568Gly) | |
3 | g.38603770G>T | CA352145978 | SCN5A | c.1832C>A (p.Ala611Asp) c.1703C>A (p.Ala568Asp) | gnomAD v4 |
3 | g.38603771C>A | CA352145980 | SCN5A | c.1831G>T (p.Ala611Ser) c.1702G>T (p.Ala568Ser) | |
3 | g.38603771C>G | CA352145981 | SCN5A | c.1831G>C (p.Ala611Pro) c.1702G>C (p.Ala568Pro) | |
3 | g.38603771C>T | CA352145982 | SCN5A | c.1831G>A (p.Ala611Thr) c.1702G>A (p.Ala568Thr) | gnomAD v4 |
3 | g.38603772C>A | CA352145983 | SCN5A | c.1830G>T (p.Glu610Asp) c.1701G>T (p.Glu567Asp) | |
3 | g.38603772C= | CA1358584795 | SCN5A | c.1830G= (p.Glu610=) c.1701G= (p.Glu567=) | |
3 | g.38603772C>G | CA352145985 | SCN5A | c.1830G>C (p.Glu610Asp) c.1701G>C (p.Glu567Asp) | |
3 | g.38603772C>T | CA433332833 | SCN5A | c.1830G>A (p.Glu610=) c.1701G>A (p.Glu567=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603773T>A | CA352145990 | SCN5A | c.1829A>T (p.Glu610Val) c.1700A>T (p.Glu567Val) | |
3 | g.38603773T>C | CA352145987 | SCN5A | c.1829A>G (p.Glu610Gly) c.1700A>G (p.Glu567Gly) | |
3 | g.38603773T>G | CA352145989 | SCN5A | c.1829A>C (p.Glu610Ala) c.1700A>C (p.Glu567Ala) | |
3 | g.38603774C>A | CA352145992 | SCN5A | c.1828G>T (p.Glu610Ter) c.1699G>T (p.Glu567Ter) | dbSNP gnomAD v4 |
3 | g.38603774C= | CA1358584801 | SCN5A | c.1828G= (p.Glu610=) c.1699G= (p.Glu567=) | |
3 | g.38603774C>G | CA352145993 | SCN5A | c.1828G>C (p.Glu610Gln) c.1699G>C (p.Glu567Gln) |