Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38597920C>A | CA059697 | SCN5A | c.2071G>T (p.Ala691Ser) c.1942G>T (p.Ala648Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38597920C= | CA1358584237 | SCN5A | c.2071G= (p.Ala691=) c.1942G= (p.Ala648=) | |
3 | g.38597920C>G | CA352144840 | SCN5A | c.2071G>C (p.Ala691Pro) c.1942G>C (p.Ala648Pro) | |
3 | g.38597920C>T | CA015822 | SCN5A | c.2071G>A (p.Ala691Thr) c.1942G>A (p.Ala648Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38597921G>A | CA059681 | SCN5A | c.2070C>T (p.Leu690=) c.1941C>T (p.Leu647=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38597921G>C | CA433333215 | SCN5A | c.2070C>G (p.Leu690=) c.1941C>G (p.Leu647=) | dbSNP gnomAD v4 |
3 | g.38597921G= | CA1358584240 | SCN5A | c.2070C= (p.Leu690=) c.1941C= (p.Leu647=) | |
3 | g.38597921G>T | CA433333216 | SCN5A | c.2070C>A (p.Leu690=) c.1941C>A (p.Leu647=) | |
3 | g.38597922A>C | CA352144841 | SCN5A | c.2069T>G (p.Leu690Arg) c.1940T>G (p.Leu647Arg) | |
3 | g.38597922A>G | CA352144842 | SCN5A | c.2069T>C (p.Leu690Pro) c.1940T>C (p.Leu647Pro) | |
3 | g.38597922A>T | CA352144843 | SCN5A | c.2069T>A (p.Leu690His) c.1940T>A (p.Leu647His) | |
3 | g.38597923G>A | CA352144844 | SCN5A | c.2068C>T (p.Leu690Phe) c.1939C>T (p.Leu647Phe) | |
3 | g.38597923G>C | CA352144846 | SCN5A | c.2068C>G (p.Leu690Val) c.1939C>G (p.Leu647Val) | |
3 | g.38597923G>T | CA352144845 | SCN5A | c.2068C>A (p.Leu690Ile) c.1939C>A (p.Leu647Ile) | |
3 | g.38597924A>C | CA433333220 | SCN5A | c.2067T>G (p.Arg689=) c.1938T>G (p.Arg646=) | |
3 | g.38597924A>G | CA433333222 | SCN5A | c.2067T>C (p.Arg689=) c.1938T>C (p.Arg646=) | |
3 | g.38597924A>T | CA433333221 | SCN5A | c.2067T>A (p.Arg689=) c.1938T>A (p.Arg646=) | |
3 | g.38597925C>A | CA352144847 | SCN5A | c.2066G>T (p.Arg689Leu) c.1937G>T (p.Arg646Leu) | |
3 | g.38597925C= | CA1358584241 | SCN5A | c.2066G= (p.Arg689=) c.1937G= (p.Arg646=) | |
3 | g.38597925C>G | CA352144848 | SCN5A | c.2066G>C (p.Arg689Pro) c.1937G>C (p.Arg646Pro) | ClinVar gnomAD v4 |
3 | g.38597925C>T | CA015813 | SCN5A | c.2066G>A (p.Arg689His) c.1937G>A (p.Arg646His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38597926G>A | CA015805 | SCN5A | c.2065C>T (p.Arg689Cys) c.1936C>T (p.Arg646Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38597926G>C | CA352144849 | SCN5A | c.2065C>G (p.Arg689Gly) c.1936C>G (p.Arg646Gly) | |
3 | g.38597926G= | CA1358584242 | SCN5A | c.2065C= (p.Arg689=) c.1936C= (p.Arg646=) | |
3 | g.38597926G>T | CA352144850 | SCN5A | c.2065C>A (p.Arg689Ser) c.1936C>A (p.Arg646Ser) | |
3 | g.38597927G>A | CA433333231 | SCN5A | c.2064C>T (p.Asn688=) c.1935C>T (p.Asn645=) | ClinVar |
3 | g.38597927G>C | CA352144852 | SCN5A | c.2064C>G (p.Asn688Lys) c.1935C>G (p.Asn645Lys) | |
3 | g.38597927G>T | CA352144851 | SCN5A | c.2064C>A (p.Asn688Lys) c.1935C>A (p.Asn645Lys) | |
3 | g.38597928T>A | CA352144853 | SCN5A | c.2063A>T (p.Asn688Ile) c.1934A>T (p.Asn645Ile) | |
3 | g.38597928T>C | CA352144854 | SCN5A | c.2063A>G (p.Asn688Ser) c.1934A>G (p.Asn645Ser) | |
3 | g.38597928T>G | CA352144855 | SCN5A | c.2063A>C (p.Asn688Thr) c.1934A>C (p.Asn645Thr) | |
3 | g.38597929T>A | CA352144856 | SCN5A | c.2062A>T (p.Asn688Tyr) c.1933A>T (p.Asn645Tyr) | |
3 | g.38597929T>C | CA352144857 | SCN5A | c.2062A>G (p.Asn688Asp) c.1933A>G (p.Asn645Asp) | |
3 | g.38597929T>G | CA352144858 | SCN5A | c.2062A>C (p.Asn688His) c.1933A>C (p.Asn645His) | |
3 | g.38597930C>A | CA352144859 | SCN5A | c.2061G>T (p.Trp687Cys) c.1932G>T (p.Trp644Cys) | |
3 | g.38597930C= | CA1358584245 | SCN5A | c.2061G= (p.Trp687=) c.1932G= (p.Trp644=) | |
3 | g.38597930C>G | CA352144861 | SCN5A | c.2061G>C (p.Trp687Cys) c.1932G>C (p.Trp644Cys) | |
3 | g.38597930C>T | CA352144860 | SCN5A | c.2061G>A (p.Trp687Ter) c.1932G>A (p.Trp644Ter) | dbSNP COSMIC COSMIC COSMIC |
3 | g.38597931C>A | CA352144862 | SCN5A | c.2060G>T (p.Trp687Leu) c.1931G>T (p.Trp644Leu) | |
3 | g.38597931C= | CA1358584246 | SCN5A | c.2060G= (p.Trp687=) c.1931G= (p.Trp644=) | |
3 | g.38597931C>G | CA352144863 | SCN5A | c.2060G>C (p.Trp687Ser) c.1931G>C (p.Trp644Ser) | |
3 | g.38597931C>T | CA352144864 | SCN5A | c.2060G>A (p.Trp687Ter) c.1931G>A (p.Trp644Ter) | |
3 | g.38597932A>C | CA352144865 | SCN5A | c.2059T>G (p.Trp687Gly) c.1930T>G (p.Trp644Gly) | |
3 | g.38597932A>G | CA352144866 | SCN5A | c.2059T>C (p.Trp687Arg) c.1930T>C (p.Trp644Arg) | |
3 | g.38597932A>T | CA352144867 | SCN5A | c.2059T>A (p.Trp687Arg) c.1930T>A (p.Trp644Arg) | |
3 | g.38597932dup | CA1047009403 | SCN5A | c.2059dup (p.Trp687LeufsTer?) c.1930dup (p.Trp644LeufsTer?) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38597933G>A | CA433333247 | SCN5A | c.2058C>T (p.Cys686=) c.1929C>T (p.Cys643=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38597933G>C | CA352144868 | SCN5A | c.2058C>G (p.Cys686Trp) c.1929C>G (p.Cys643Trp) | |
3 | g.38597933G= | CA1358584247 | SCN5A | c.2058C= (p.Cys686=) c.1929C= (p.Cys643=) | |
3 | g.38597933G>T | CA352144869 | SCN5A | c.2058C>A (p.Cys686Ter) c.1929C>A (p.Cys643Ter) | dbSNP |