Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38586031A= | CA1358577541 | SCN5A | c.2447T= (p.Phe816=) c.2318T= (p.Phe773=) | |
3 | g.38586031A>C | CA352142751 | SCN5A | c.2447T>G (p.Phe816Cys) c.2318T>G (p.Phe773Cys) | |
3 | g.38586031A>G | CA352142753 | SCN5A | c.2447T>C (p.Phe816Ser) c.2318T>C (p.Phe773Ser) | |
3 | g.38586031A>T | CA016190 | SCN5A | c.2447T>A (p.Phe816Tyr) c.2318T>A (p.Phe773Tyr) | ClinVar dbSNP |
3 | g.38586032A>C | CA352142755 | SCN5A | c.2446T>G (p.Phe816Val) c.2317T>G (p.Phe773Val) | |
3 | g.38586032A>G | CA352142757 | SCN5A | c.2446T>C (p.Phe816Leu) c.2317T>C (p.Phe773Leu) | |
3 | g.38586032A>T | CA352142759 | SCN5A | c.2446T>A (p.Phe816Ile) c.2317T>A (p.Phe773Ile) | |
3 | g.38586033G>A | CA433332674 | SCN5A | c.2445C>T (p.Val815=) c.2316C>T (p.Val772=) | |
3 | g.38586033G>C | CA433332675 | SCN5A | c.2445C>G (p.Val815=) c.2316C>G (p.Val772=) | |
3 | g.38586033G>T | CA433332676 | SCN5A | c.2445C>A (p.Val815=) c.2316C>A (p.Val772=) | |
3 | g.38586034A>C | CA352142762 | SCN5A | c.2444T>G (p.Val815Gly) c.2315T>G (p.Val772Gly) | |
3 | g.38586034A>G | CA352142766 | SCN5A | c.2444T>C (p.Val815Ala) c.2315T>C (p.Val772Ala) | |
3 | g.38586034A>T | CA352142764 | SCN5A | c.2444T>A (p.Val815Asp) c.2315T>A (p.Val772Asp) | |
3 | g.38586035C>A | CA352142769 | SCN5A | c.2443G>T (p.Val815Phe) c.2314G>T (p.Val772Phe) | |
3 | g.38586035C>G | CA352142770 | SCN5A | c.2443G>C (p.Val815Leu) c.2314G>C (p.Val772Leu) | |
3 | g.38586035C>T | CA352142772 | SCN5A | c.2443G>A (p.Val815Ile) c.2314G>A (p.Val772Ile) | ClinVar gnomAD v4 |
3 | g.38586036C>A | CA433332679 | SCN5A | c.2442G>T (p.Arg814=) c.2313G>T (p.Arg771=) | gnomAD v4 |
3 | g.38586036C>G | CA433332680 | SCN5A | c.2442G>C (p.Arg814=) c.2313G>C (p.Arg771=) | |
3 | g.38586036C>T | CA433332681 | SCN5A | c.2442G>A (p.Arg814=) c.2313G>A (p.Arg771=) | |
3 | g.38586037C>A | CA352142774 | SCN5A | c.2441G>T (p.Arg814Leu) c.2312G>T (p.Arg771Leu) | gnomAD v4 |
3 | g.38586037C= | CA1358577542 | SCN5A | c.2441G= (p.Arg814=) c.2312G= (p.Arg771=) | |
3 | g.38586037C>G | CA352142775 | SCN5A | c.2441G>C (p.Arg814Pro) c.2312G>C (p.Arg771Pro) | |
3 | g.38586037C>T | CA016182 | SCN5A | c.2441G>A (p.Arg814Gln) c.2312G>A (p.Arg771Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38586038G>A | CA016173 | SCN5A | c.2440C>T (p.Arg814Trp) c.2311C>T (p.Arg771Trp) | ClinVar dbSNP gnomAD v4 |
3 | g.38586038G>C | CA352142779 | SCN5A | c.2440C>G (p.Arg814Gly) c.2311C>G (p.Arg771Gly) | |
3 | g.38586038G= | CA1358577543 | SCN5A | c.2440C= (p.Arg814=) c.2311C= (p.Arg771=) | |
3 | g.38586038G>T | CA433332682 | SCN5A | c.2440C>A (p.Arg814=) c.2311C>A (p.Arg771=) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.38586039C>A | CA433332683 | SCN5A | c.2439G>T (p.Leu813=) c.2310G>T (p.Leu770=) | |
3 | g.38586039C>G | CA433332684 | SCN5A | c.2439G>C (p.Leu813=) c.2310G>C (p.Leu770=) | |
3 | g.38586039C>T | CA433332685 | SCN5A | c.2439G>A (p.Leu813=) c.2310G>A (p.Leu770=) | |
3 | g.38586040A>C | CA352142781 | SCN5A | c.2438T>G (p.Leu813Arg) c.2309T>G (p.Leu770Arg) | |
3 | g.38586040A>G | CA352142783 | SCN5A | c.2438T>C (p.Leu813Pro) c.2309T>C (p.Leu770Pro) | |
3 | g.38586040A>T | CA352142784 | SCN5A | c.2438T>A (p.Leu813Gln) c.2309T>A (p.Leu770Gln) | |
3 | g.38586041G>A | CA433332687 | SCN5A | c.2437C>T (p.Leu813=) c.2308C>T (p.Leu770=) | |
3 | g.38586041G>C | CA352142788 | SCN5A | c.2437C>G (p.Leu813Val) c.2308C>G (p.Leu770Val) | |
3 | g.38586041G>T | CA352142786 | SCN5A | c.2437C>A (p.Leu813Met) c.2308C>A (p.Leu770Met) | |
3 | g.38586042C>A | CA352142790 | SCN5A | c.2437-1G>T (n.2437-1G>T) c.2308-1G>T (n.2308-1G>T) | |
3 | g.38586042C>G | CA352142794 | SCN5A | c.2437-1G>C (n.2437-1G>C) c.2308-1G>C (n.2308-1G>C) | ClinVar |
3 | g.38586042C>T | CA352142792 | SCN5A | c.2437-1G>A (n.2437-1G>A) c.2308-1G>A (n.2308-1G>A) | |
3 | g.38586043T>A | CA352142796 | SCN5A | c.2437-2A>T (n.2437-2A>T) c.2308-2A>T (n.2308-2A>T) | dbSNP |
3 | g.38586043T>C | CA352142798 | SCN5A | c.2437-2A>G (n.2437-2A>G) c.2308-2A>G (n.2308-2A>G) | |
3 | g.38586043T>G | CA352142800 | SCN5A | c.2437-2A>C (n.2437-2A>C) c.2308-2A>C (n.2308-2A>C) | |
3 | g.38586043T= | CA1358577544 | SCN5A | c.2437-2A= (n.2437-2A=) c.2308-2A= (n.2308-2A=) | |
3 | g.38586043_38586044delinsTG | CA1358577545 | SCN5A | c.2437-3_2437-2delinsCA (n.2437-3_2437-2delinsCA) c.2308-3_2308-2delinsCA (n.2308-3_2308-2delinsCA) | |
3 | g.38586044G>A | CA542615591 | SCN5A | c.2437-3C>T (n.2437-3C>T) c.2308-3C>T (n.2308-3C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38586044G= | CA1358577547 | SCN5A | c.2437-3C= (n.2437-3C=) c.2308-3C= (n.2308-3C=) | |
3 | g.38586047del | CA1358577546 | SCN5A | c.2437-3del (n.2437-3del) c.2308-3del (n.2308-3del) | dbSNP |
3 | g.38586045G>A | CA72928784 | SCN5A | c.2437-4C>T (n.2437-4C>T) c.2308-4C>T (n.2308-4C>T) | dbSNP |
3 | g.38586045G= | CA1358577548 | SCN5A | c.2437-4C= (n.2437-4C=) c.2308-4C= (n.2308-4C=) | |
3 | g.38586045_38586046insC | CA906859220 | SCN5A | c.2437-5_2437-4insG (n.2437-5_2437-4insG) c.2308-5_2308-4insG (n.2308-5_2308-4insG) | dbSNP |