Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51762567A>C | CA384883652 | SCN8A | c.2435A>C (p.Tyr812Ser) c.282A>C c.439A>C n.2563A>C c.2468A>C (p.Tyr823Ser) | |
12 | g.51762567A>G | CA384883656 | SCN8A | c.2435A>G (p.Tyr812Cys) c.282A>G c.439A>G n.2563A>G c.2468A>G (p.Tyr823Cys) | |
12 | g.51762567A>T | CA384883647 | SCN8A | c.2435A>T (p.Tyr812Phe) c.282A>T c.439A>T n.2563A>T c.2468A>T (p.Tyr823Phe) | |
12 | g.51762568T>A | CA384883665 | SCN8A | c.2436T>A (p.Tyr812Ter) c.283T>A c.440T>A n.2564T>A c.2469T>A (p.Tyr823Ter) | |
12 | g.51762568T>C | CA479788243 | SCN8A | c.2436T>C (p.Tyr812=) c.283T>C c.440T>C n.2564T>C c.2469T>C (p.Tyr823=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51762568T>G | CA384883676 | SCN8A | c.2436T>G (p.Tyr812Ter) c.283T>G c.440T>G n.2564T>G c.2469T>G (p.Tyr823Ter) | |
12 | g.51762568T= | CA2036180331 | SCN8A | c.2436T= (p.Tyr812=) c.283T= c.440T= n.2564T= c.2469T= (p.Tyr823=) | |
12 | g.51762569T>A | CA384883682 | SCN8A | c.2437T>A (p.Phe813Ile) c.284T>A c.441T>A n.2565T>A c.2470T>A (p.Phe824Ile) | |
12 | g.51762569T>C | CA384883692 | SCN8A | c.2437T>C (p.Phe813Leu) c.284T>C c.441T>C n.2565T>C c.2470T>C (p.Phe824Leu) | gnomAD v4 |
12 | g.51762569T>G | CA384883696 | SCN8A | c.2437T>G (p.Phe813Val) c.284T>G c.441T>G n.2565T>G c.2470T>G (p.Phe824Val) | |
12 | g.51762570T>A | CA384883713 | SCN8A | c.2438T>A (p.Phe813Tyr) c.285T>A c.442T>A n.2566T>A c.2471T>A (p.Phe824Tyr) | |
12 | g.51762570T>C | CA384883709 | SCN8A | c.2438T>C (p.Phe813Ser) c.285T>C c.442T>C n.2566T>C c.2471T>C (p.Phe824Ser) | |
12 | g.51762570T>G | CA384883711 | SCN8A | c.2438T>G (p.Phe813Cys) c.285T>G c.442T>G n.2566T>G c.2471T>G (p.Phe824Cys) | |
12 | g.51762571C>A | CA384883718 | SCN8A | c.2439C>A (p.Phe813Leu) c.286C>A c.443C>A n.2567C>A c.2472C>A (p.Phe824Leu) | |
12 | g.51762571C>G | CA384883721 | SCN8A | c.2439C>G (p.Phe813Leu) c.286C>G c.443C>G n.2567C>G c.2472C>G (p.Phe824Leu) | |
12 | g.51762571C>T | CA479788244 | SCN8A | c.2439C>T (p.Phe813=) c.286C>T c.443C>T n.2567C>T c.2472C>T (p.Phe824=) | gnomAD v4 COSMIC COSMIC |
12 | g.51762572C>A | CA384883724 | SCN8A | c.2440C>A (p.Gln814Lys) c.287C>A c.444C>A n.2568C>A c.2473C>A (p.Gln825Lys) | |
12 | g.51762572C>G | CA384883728 | SCN8A | c.2440C>G (p.Gln814Glu) c.287C>G c.444C>G n.2568C>G c.2473C>G (p.Gln825Glu) | |
12 | g.51762572C>T | CA384883733 | SCN8A | c.2440C>T (p.Gln814Ter) c.287C>T c.444C>T n.2568C>T c.2473C>T (p.Gln825Ter) | COSMIC COSMIC |
12 | g.51762573A= | CA2036180333 | SCN8A | c.2441A= (p.Gln814=) c.288A= c.445A= n.2569A= c.2474A= (p.Gln825=) | |
12 | g.51762573A>C | CA384883736 | SCN8A | c.2441A>C (p.Gln814Pro) c.288A>C c.445A>C n.2569A>C c.2474A>C (p.Gln825Pro) | |
12 | g.51762573A>G | CA384883735 | SCN8A | c.2441A>G (p.Gln814Arg) c.288A>G c.445A>G n.2569A>G c.2474A>G (p.Gln825Arg) | ClinVar |
12 | g.51762573A>T | CA384883734 | SCN8A | c.2441A>T (p.Gln814Leu) c.288A>T c.445A>T n.2569A>T c.2474A>T (p.Gln825Leu) | dbSNP gnomAD v2 |
12 | g.51762574A>C | CA384883739 | SCN8A | c.2442A>C (p.Gln814His) c.289A>C c.446A>C n.2570A>C c.2475A>C (p.Gln825His) | |
12 | g.51762574A>G | CA479788245 | SCN8A | c.2442A>G (p.Gln814=) c.289A>G c.446A>G n.2570A>G c.2475A>G (p.Gln825=) | gnomAD v4 |
12 | g.51762574A>T | CA384883744 | SCN8A | c.2442A>T (p.Gln814His) c.289A>T c.446A>T n.2570A>T c.2475A>T (p.Gln825His) | |
12 | g.51762575G>A | CA384883750 | SCN8A | c.2443G>A (p.Glu815Lys) c.290G>A c.447G>A n.2571G>A c.2476G>A (p.Glu826Lys) | gnomAD v4 |
12 | g.51762575G>C | CA384883758 | SCN8A | c.2443G>C (p.Glu815Gln) c.290G>C c.447G>C n.2571G>C c.2476G>C (p.Glu826Gln) | |
12 | g.51762575G= | CA2036180338 | SCN8A | c.2443G= (p.Glu815=) c.290G= c.447G= n.2571G= c.2476G= (p.Glu826=) | |
12 | g.51762575G>T | CA384883776 | SCN8A | c.2443G>T (p.Glu815Ter) c.290G>T c.447G>T n.2571G>T c.2476G>T (p.Glu826Ter) | dbSNP |
12 | g.51762576A>C | CA384883782 | SCN8A | c.2444A>C (p.Glu815Ala) c.291A>C c.448A>C n.2572A>C c.2477A>C (p.Glu826Ala) | |
12 | g.51762576A>G | CA384883783 | SCN8A | c.2444A>G (p.Glu815Gly) c.291A>G c.448A>G n.2572A>G c.2477A>G (p.Glu826Gly) | |
12 | g.51762576A>T | CA384883784 | SCN8A | c.2444A>T (p.Glu815Val) c.291A>T c.448A>T n.2572A>T c.2477A>T (p.Glu826Val) | |
12 | g.51762577A>C | CA384883788 | SCN8A | c.2445A>C (p.Glu815Asp) c.292A>C c.449A>C n.2573A>C c.2478A>C (p.Glu826Asp) | |
12 | g.51762577A>G | CA479788246 | SCN8A | c.2445A>G (p.Glu815=) c.292A>G c.449A>G n.2573A>G c.2478A>G (p.Glu826=) | |
12 | g.51762577A>T | CA384883790 | SCN8A | c.2445A>T (p.Glu815Asp) c.292A>T c.449A>T n.2573A>T c.2478A>T (p.Glu826Asp) | |
12 | g.51762578G>A | CA384883792 | SCN8A | c.2446G>A (p.Gly816Ser) c.293G>A c.450G>A n.2574G>A c.2479G>A (p.Gly827Ser) | |
12 | g.51762578G>C | CA384883801 | SCN8A | c.2446G>C (p.Gly816Arg) c.293G>C c.450G>C n.2574G>C c.2479G>C (p.Gly827Arg) | |
12 | g.51762578G>T | CA384883803 | SCN8A | c.2446G>T (p.Gly816Cys) c.293G>T c.450G>T n.2574G>T c.2479G>T (p.Gly827Cys) | |
12 | g.51762579G>A | CA384883820 | SCN8A | c.2447G>A (p.Gly816Asp) c.294G>A c.451G>A n.2575G>A c.2480G>A (p.Gly827Asp) | ClinVar dbSNP |
12 | g.51762579G>C | CA384883810 | SCN8A | c.2447G>C (p.Gly816Ala) c.294G>C c.451G>C n.2575G>C c.2480G>C (p.Gly827Ala) | |
12 | g.51762579G>T | CA384883817 | SCN8A | c.2447G>T (p.Gly816Val) c.294G>T c.451G>T n.2575G>T c.2480G>T (p.Gly827Val) | |
12 | g.51762580T>A | CA479788247 | SCN8A | c.2448T>A (p.Gly816=) c.295T>A c.452T>A n.2576T>A c.2481T>A (p.Gly827=) | ClinVar dbSNP |
12 | g.51762580T>C | CA236315784 | SCN8A | c.2448T>C (p.Gly816=) c.295T>C c.452T>C n.2576T>C c.2481T>C (p.Gly827=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51762580T>G | CA479788248 | SCN8A | c.2448T>G (p.Gly816=) c.295T>G c.452T>G n.2576T>G c.2481T>G (p.Gly827=) | |
12 | g.51762580T= | CA2036180348 | SCN8A | c.2448T= (p.Gly816=) c.295T= c.452T= n.2576T= c.2481T= (p.Gly827=) | |
12 | g.51762581T>A | CA384883826 | SCN8A | c.2449T>A (p.Trp817Arg) c.296T>A c.453T>A n.2577T>A c.2482T>A (p.Trp828Arg) | |
12 | g.51762581T>C | CA384883830 | SCN8A | c.2449T>C (p.Trp817Arg) c.296T>C c.453T>C n.2577T>C c.2482T>C (p.Trp828Arg) | |
12 | g.51762581T>G | CA384883834 | SCN8A | c.2449T>G (p.Trp817Gly) c.296T>G c.453T>G n.2577T>G c.2482T>G (p.Trp828Gly) | |
12 | g.51762582G>A | CA384883848 | SCN8A | c.2450G>A (p.Trp817Ter) c.297G>A c.454G>A n.2578G>A c.2483G>A (p.Trp828Ter) |