Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38581170C>A | CA016718 | SCN5A | c.2989G>T (p.Ala997Ser) c.2860G>T (p.Ala954Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581170C= | CA1358574442 | SCN5A | c.2989G= (p.Ala997=) c.2860G= (p.Ala954=) | |
3 | g.38581170C>G | CA352139953 | SCN5A | c.2989G>C (p.Ala997Pro) c.2860G>C (p.Ala954Pro) | |
3 | g.38581170C>T | CA016710 | SCN5A | c.2989G>A (p.Ala997Thr) c.2860G>A (p.Ala954Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581171G>A | CA061120 | SCN5A | c.2988C>T (p.Ala996=) c.2859C>T (p.Ala953=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581171G>C | CA433332522 | SCN5A | c.2988C>G (p.Ala996=) c.2859C>G (p.Ala953=) | |
3 | g.38581171G= | CA1358574443 | SCN5A | c.2988C= (p.Ala996=) c.2859C= (p.Ala953=) | |
3 | g.38581171G>T | CA433332523 | SCN5A | c.2988C>A (p.Ala996=) c.2859C>A (p.Ala953=) | |
3 | g.38581172G>A | CA352139957 | SCN5A | c.2987C>T (p.Ala996Val) c.2858C>T (p.Ala953Val) | gnomAD v4 |
3 | g.38581172G>C | CA352139958 | SCN5A | c.2987C>G (p.Ala996Gly) c.2858C>G (p.Ala953Gly) | |
3 | g.38581172G= | CA1358574446 | SCN5A | c.2987C= (p.Ala996=) c.2858C= (p.Ala953=) | |
3 | g.38581172G>T | CA352139961 | SCN5A | c.2987C>A (p.Ala996Asp) c.2858C>A (p.Ala953Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581173C>A | CA352139963 | SCN5A | c.2986G>T (p.Ala996Ser) c.2857G>T (p.Ala953Ser) | |
3 | g.38581173C= | CA1358574447 | SCN5A | c.2986G= (p.Ala996=) c.2857G= (p.Ala953=) | |
3 | g.38581173C>G | CA352139965 | SCN5A | c.2986G>C (p.Ala996Pro) c.2857G>C (p.Ala953Pro) | |
3 | g.38581173C>T | CA352139967 | SCN5A | c.2986G>A (p.Ala996Thr) c.2857G>A (p.Ala953Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581174A>C | CA433332524 | SCN5A | c.2985T>G (p.Leu995=) c.2856T>G (p.Leu952=) | |
3 | g.38581174A>G | CA433332525 | SCN5A | c.2985T>C (p.Leu995=) c.2856T>C (p.Leu952=) | |
3 | g.38581174A>T | CA433332526 | SCN5A | c.2985T>A (p.Leu995=) c.2856T>A (p.Leu952=) | |
3 | g.38581175A>C | CA352139971 | SCN5A | c.2984T>G (p.Leu995Arg) c.2855T>G (p.Leu952Arg) | |
3 | g.38581175A>G | CA352139974 | SCN5A | c.2984T>C (p.Leu995Pro) c.2855T>C (p.Leu952Pro) | |
3 | g.38581175A>T | CA352139970 | SCN5A | c.2984T>A (p.Leu995His) c.2855T>A (p.Leu952His) | |
3 | g.38581176G>A | CA061116 | SCN5A | c.2983C>T (p.Leu995Phe) c.2854C>T (p.Leu952Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38581176G>C | CA352139976 | SCN5A | c.2983C>G (p.Leu995Val) c.2854C>G (p.Leu952Val) | |
3 | g.38581176G= | CA1358574449 | SCN5A | c.2983C= (p.Leu995=) c.2854C= (p.Leu952=) | |
3 | g.38581176G>T | CA352139979 | SCN5A | c.2983C>A (p.Leu995Ile) c.2854C>A (p.Leu952Ile) | |
3 | g.38581177G>A | CA433332527 | SCN5A | c.2982C>T (p.Ala994=) c.2853C>T (p.Ala951=) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38581177G>C | CA433332528 | SCN5A | c.2982C>G (p.Ala994=) c.2853C>G (p.Ala951=) | |
3 | g.38581177G>T | CA433332529 | SCN5A | c.2982C>A (p.Ala994=) c.2853C>A (p.Ala951=) | gnomAD v4 |
3 | g.38581178G>A | CA352139981 | SCN5A | c.2981C>T (p.Ala994Val) c.2852C>T (p.Ala951Val) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581178G>C | CA352139983 | SCN5A | c.2981C>G (p.Ala994Gly) c.2852C>G (p.Ala951Gly) | |
3 | g.38581178G= | CA1358574451 | SCN5A | c.2981C= (p.Ala994=) c.2852C= (p.Ala951=) | |
3 | g.38581178G>T | CA352139985 | SCN5A | c.2981C>A (p.Ala994Asp) c.2852C>A (p.Ala951Asp) | |
3 | g.38581179C>A | CA352139988 | SCN5A | c.2980G>T (p.Ala994Ser) c.2851G>T (p.Ala951Ser) | |
3 | g.38581179C= | CA1358574452 | SCN5A | c.2980G= (p.Ala994=) c.2851G= (p.Ala951=) | |
3 | g.38581179C>G | CA352139990 | SCN5A | c.2980G>C (p.Ala994Pro) c.2851G>C (p.Ala951Pro) | |
3 | g.38581179C>T | CA352139991 | SCN5A | c.2980G>A (p.Ala994Thr) c.2851G>A (p.Ala951Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581180T>A | CA433332530 | SCN5A | c.2979A>T (p.Ala993=) c.2850A>T (p.Ala950=) | |
3 | g.38581180T>C | CA433332531 | SCN5A | c.2979A>G (p.Ala993=) c.2850A>G (p.Ala950=) | |
3 | g.38581180T>G | CA433332532 | SCN5A | c.2979A>C (p.Ala993=) c.2850A>C (p.Ala950=) | |
3 | g.38581181G>A | CA352139994 | SCN5A | c.2978C>T (p.Ala993Val) c.2849C>T (p.Ala950Val) | |
3 | g.38581181G>C | CA352139996 | SCN5A | c.2978C>G (p.Ala993Gly) c.2849C>G (p.Ala950Gly) | |
3 | g.38581181G>T | CA352139997 | SCN5A | c.2978C>A (p.Ala993Glu) c.2849C>A (p.Ala950Glu) | gnomAD v4 |
3 | g.38581182C>A | CA352139999 | SCN5A | c.2977G>T (p.Ala993Ser) c.2848G>T (p.Ala950Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581182C= | CA1358574453 | SCN5A | c.2977G= (p.Ala993=) c.2848G= (p.Ala950=) | |
3 | g.38581182C>G | CA352140001 | SCN5A | c.2977G>C (p.Ala993Pro) c.2848G>C (p.Ala950Pro) | |
3 | g.38581182C>T | CA061107 | SCN5A | c.2977G>A (p.Ala993Thr) c.2848G>A (p.Ala950Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581183G>A | CA016703 | SCN5A | c.2976C>T (p.Pro992=) c.2847C>T (p.Pro949=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581183G>C | CA433332534 | SCN5A | c.2976C>G (p.Pro992=) c.2847C>G (p.Pro949=) | |
3 | g.38581183G= | CA1358574456 | SCN5A | c.2976C= (p.Pro992=) c.2847C= (p.Pro949=) |