Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38597865C>A | CA015873 | SCN5A | c.2126G>T (p.Gly709Val) c.1997G>T (p.Gly666Val) | ClinVar dbSNP |
3 | g.38597865C= | CA1358584132 | SCN5A | c.2126G= (p.Gly709=) c.1997G= (p.Gly666=) | |
3 | g.38597865C>G | CA352144713 | SCN5A | c.2126G>C (p.Gly709Ala) c.1997G>C (p.Gly666Ala) | |
3 | g.38597865C>T | CA352144714 | SCN5A | c.2126G>A (p.Gly709Glu) c.1997G>A (p.Gly666Glu) | gnomAD v4 |
3 | g.38597866C>A | CA352144715 | SCN5A | c.2125G>T (p.Gly709Ter) c.1996G>T (p.Gly666Ter) | dbSNP |
3 | g.38597866C= | CA1358584135 | SCN5A | c.2125G= (p.Gly709=) c.1996G= (p.Gly666=) | |
3 | g.38597866C>G | CA352144716 | SCN5A | c.2125G>C (p.Gly709Arg) c.1996G>C (p.Gly666Arg) | |
3 | g.38597866C>T | CA352144717 | SCN5A | c.2125G>A (p.Gly709Arg) c.1996G>A (p.Gly666Arg) | |
3 | g.38597867C>A | CA352144718 | SCN5A | c.2124G>T (p.Gln708His) c.1995G>T (p.Gln665His) | |
3 | g.38597867C>G | CA352144719 | SCN5A | c.2124G>C (p.Gln708His) c.1995G>C (p.Gln665His) | |
3 | g.38597867C>T | CA433333116 | SCN5A | c.2124G>A (p.Gln708=) c.1995G>A (p.Gln665=) | |
3 | g.38597868T>A | CA352144722 | SCN5A | c.2123A>T (p.Gln708Leu) c.1994A>T (p.Gln665Leu) | |
3 | g.38597868T>C | CA352144720 | SCN5A | c.2123A>G (p.Gln708Arg) c.1994A>G (p.Gln665Arg) | |
3 | g.38597868T>G | CA352144721 | SCN5A | c.2123A>C (p.Gln708Pro) c.1994A>C (p.Gln665Pro) | |
3 | g.38597869G>A | CA352144723 | SCN5A | c.2122C>T (p.Gln708Ter) c.1993C>T (p.Gln665Ter) | gnomAD v4 |
3 | g.38597869G>C | CA352144724 | SCN5A | c.2122C>G (p.Gln708Glu) c.1993C>G (p.Gln665Glu) | |
3 | g.38597869G>T | CA352144725 | SCN5A | c.2122C>A (p.Gln708Lys) c.1993C>A (p.Gln665Lys) | |
3 | g.38597870C>A | CA352144726 | SCN5A | c.2121G>T (p.Lys707Asn) c.1992G>T (p.Lys664Asn) | |
3 | g.38597870C>G | CA352144727 | SCN5A | c.2121G>C (p.Lys707Asn) c.1992G>C (p.Lys664Asn) | |
3 | g.38597870C>T | CA433333124 | SCN5A | c.2121G>A (p.Lys707=) c.1992G>A (p.Lys664=) | |
3 | g.38597871T>A | CA352144728 | SCN5A | c.2120A>T (p.Lys707Met) c.1991A>T (p.Lys664Met) | |
3 | g.38597871T>C | CA352144729 | SCN5A | c.2120A>G (p.Lys707Arg) c.1991A>G (p.Lys664Arg) | |
3 | g.38597871T>G | CA352144730 | SCN5A | c.2120A>C (p.Lys707Thr) c.1991A>C (p.Lys664Thr) | |
3 | g.38597872T>A | CA352144731 | SCN5A | c.2119A>T (p.Lys707Ter) c.1990A>T (p.Lys664Ter) | dbSNP |
3 | g.38597872T>C | CA352144732 | SCN5A | c.2119A>G (p.Lys707Glu) c.1990A>G (p.Lys664Glu) | |
3 | g.38597872T>G | CA352144733 | SCN5A | c.2119A>C (p.Lys707Gln) c.1990A>C (p.Lys664Gln) | |
3 | g.38597872T= | CA1358584137 | SCN5A | c.2119A= (p.Lys707=) c.1990A= (p.Lys664=) | |
3 | g.38597873G>A | CA433333129 | SCN5A | c.2118C>T (p.Ile706=) c.1989C>T (p.Ile663=) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.38597873G>C | CA352144734 | SCN5A | c.2118C>G (p.Ile706Met) c.1989C>G (p.Ile663Met) | |
3 | g.38597873G>T | CA433333131 | SCN5A | c.2118C>A (p.Ile706=) c.1989C>A (p.Ile663=) | |
3 | g.38597874A>C | CA352144737 | SCN5A | c.2117T>G (p.Ile706Ser) c.1988T>G (p.Ile663Ser) | |
3 | g.38597874A>G | CA352144735 | SCN5A | c.2117T>C (p.Ile706Thr) c.1988T>C (p.Ile663Thr) | |
3 | g.38597874A>T | CA352144736 | SCN5A | c.2117T>A (p.Ile706Asn) c.1988T>A (p.Ile663Asn) | |
3 | g.38597875T>A | CA352144738 | SCN5A | c.2116A>T (p.Ile706Phe) c.1987A>T (p.Ile663Phe) | gnomAD v4 |
3 | g.38597875T>C | CA352144739 | SCN5A | c.2116A>G (p.Ile706Val) c.1987A>G (p.Ile663Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38597875T>G | CA352144740 | SCN5A | c.2116A>C (p.Ile706Leu) c.1987A>C (p.Ile663Leu) | |
3 | g.38597875T= | CA1358584140 | SCN5A | c.2116A= (p.Ile706=) c.1987A= (p.Ile663=) | |
3 | g.38597876G>A | CA433333135 | SCN5A | c.2115C>T (p.Ser705=) c.1986C>T (p.Ser662=) | |
3 | g.38597876G>C | CA433333136 | SCN5A | c.2115C>G (p.Ser705=) c.1986C>G (p.Ser662=) | |
3 | g.38597876G>T | CA433333137 | SCN5A | c.2115C>A (p.Ser705=) c.1986C>A (p.Ser662=) | |
3 | g.38597877G>A | CA015866 | SCN5A | c.2114C>T (p.Ser705Phe) c.1985C>T (p.Ser662Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38597877G>C | CA352144741 | SCN5A | c.2114C>G (p.Ser705Cys) c.1985C>G (p.Ser662Cys) | |
3 | g.38597877G= | CA1358584142 | SCN5A | c.2114C= (p.Ser705=) c.1985C= (p.Ser662=) | |
3 | g.38597877G>T | CA352144742 | SCN5A | c.2114C>A (p.Ser705Tyr) c.1985C>A (p.Ser662Tyr) | gnomAD v4 |
3 | g.38597878A= | CA1358584147 | SCN5A | c.2113T= (p.Ser705=) c.1984T= (p.Ser662=) | |
3 | g.38597878A>C | CA352144743 | SCN5A | c.2113T>G (p.Ser705Ala) c.1984T>G (p.Ser662Ala) | |
3 | g.38597878A>G | CA352144744 | SCN5A | c.2113T>C (p.Ser705Pro) c.1984T>C (p.Ser662Pro) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38597878A>T | CA352144745 | SCN5A | c.2113T>A (p.Ser705Thr) c.1984T>A (p.Ser662Thr) | |
3 | g.38597879C>A | CA352144748 | SCN5A | c.2112G>T (p.Met704Ile) c.1983G>T (p.Met661Ile) | |
3 | g.38597879C>G | CA352144747 | SCN5A | c.2112G>C (p.Met704Ile) c.1983G>C (p.Met661Ile) |