Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
12 | g.51762582G>C | CA384883885 | SCN8A | c.2450G>C (p.Trp817Ser) c.297G>C c.454G>C n.2578G>C c.2483G>C (p.Trp828Ser) | |
12 | g.51762582G>T | CA384883889 | SCN8A | c.2450G>T (p.Trp817Leu) c.297G>T c.454G>T n.2578G>T c.2483G>T (p.Trp828Leu) | |
12 | g.51762583G>A | CA384883893 | SCN8A | c.2451G>A (p.Trp817Ter) c.298G>A c.455G>A n.2579G>A c.2484G>A (p.Trp828Ter) | |
12 | g.51762583G>C | CA384883897 | SCN8A | c.2451G>C (p.Trp817Cys) c.298G>C c.455G>C n.2579G>C c.2484G>C (p.Trp828Cys) | |
12 | g.51762583G>T | CA384883903 | SCN8A | c.2451G>T (p.Trp817Cys) c.298G>T c.455G>T n.2579G>T c.2484G>T (p.Trp828Cys) | |
12 | g.51762584A>C | CA384883927 | SCN8A | c.2452A>C (p.Asn818His) c.299A>C c.456A>C n.2580A>C c.2485A>C (p.Asn829His) | |
12 | g.51762584A>G | CA384883934 | SCN8A | c.2452A>G (p.Asn818Asp) c.299A>G c.456A>G n.2580A>G c.2485A>G (p.Asn829Asp) | |
12 | g.51762584A>T | CA384883936 | SCN8A | c.2452A>T (p.Asn818Tyr) c.299A>T c.456A>T n.2580A>T c.2485A>T (p.Asn829Tyr) | |
12 | g.51762585A>C | CA384883955 | SCN8A | c.2453A>C (p.Asn818Thr) c.300A>C c.457A>C n.2581A>C c.2486A>C (p.Asn829Thr) | |
12 | g.51762585A>G | CA384883957 | SCN8A | c.2453A>G (p.Asn818Ser) c.300A>G c.457A>G n.2581A>G c.2486A>G (p.Asn829Ser) | gnomAD v4 |
12 | g.51762585A>T | CA384883952 | SCN8A | c.2453A>T (p.Asn818Ile) c.300A>T c.457A>T n.2581A>T c.2486A>T (p.Asn829Ile) | |
12 | g.51762586C>A | CA384883964 | SCN8A | c.2454C>A (p.Asn818Lys) c.301C>A c.458C>A n.2582C>A c.2487C>A (p.Asn829Lys) | |
12 | g.51762586C>G | CA384883959 | SCN8A | c.2454C>G (p.Asn818Lys) c.301C>G c.458C>G n.2582C>G c.2487C>G (p.Asn829Lys) | |
12 | g.51762586C>T | CA479788249 | SCN8A | c.2454C>T (p.Asn818=) c.301C>T c.458C>T n.2582C>T c.2487C>T (p.Asn829=) | gnomAD v3 gnomAD v4 |
12 | g.51762587A= | CA2036180353 | SCN8A | c.2455A= (p.Ile819=) c.302A= c.459A= n.2583A= c.2488A= (p.Ile830=) | |
12 | g.51762587A>C | CA384883973 | SCN8A | c.2455A>C (p.Ile819Leu) c.302A>C c.459A>C n.2583A>C c.2488A>C (p.Ile830Leu) | |
12 | g.51762587A>G | CA384883974 | SCN8A | c.2455A>G (p.Ile819Val) c.302A>G c.459A>G n.2583A>G c.2488A>G (p.Ile830Val) | |
12 | g.51762587A>T | CA384883976 | SCN8A | c.2455A>T (p.Ile819Phe) c.302A>T c.459A>T n.2583A>T c.2488A>T (p.Ile830Phe) | |
12 | g.51762588T>A | CA384883983 | SCN8A | c.2456T>A (p.Ile819Asn) c.303T>A c.460T>A n.2584T>A c.2489T>A (p.Ile830Asn) | |
12 | g.51762588T>C | CA384883989 | SCN8A | c.2456T>C (p.Ile819Thr) c.303T>C c.460T>C n.2584T>C c.2489T>C (p.Ile830Thr) | |
12 | g.51762588T>G | CA384883992 | SCN8A | c.2456T>G (p.Ile819Ser) c.303T>G c.460T>G n.2584T>G c.2489T>G (p.Ile830Ser) | |
12 | g.51762592dup | CA891843491 | SCN8A | c.2460dup (p.Asp821Ter) c.307dup c.464dup n.2588dup c.2493dup (p.Asp832Ter) | ClinVar dbSNP |
12 | g.51762589T>A | CA479788250 | SCN8A | c.2457T>A (p.Ile819=) c.304T>A c.461T>A n.2585T>A c.2490T>A (p.Ile830=) |