Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
12 | g.51762589T>C | CA479788251 | SCN8A | c.2457T>C (p.Ile819=) c.304T>C c.461T>C n.2585T>C c.2490T>C (p.Ile830=) | |
12 | g.51762589T>G | CA384884014 | SCN8A | c.2457T>G (p.Ile819Met) c.304T>G c.461T>G n.2585T>G c.2490T>G (p.Ile830Met) | |
12 | g.51762590T>A | CA384884027 | SCN8A | c.2458T>A (p.Phe820Ile) c.305T>A c.462T>A n.2586T>A c.2491T>A (p.Phe831Ile) | |
12 | g.51762590T>C | CA384884036 | SCN8A | c.2458T>C (p.Phe820Leu) c.305T>C c.462T>C n.2586T>C c.2491T>C (p.Phe831Leu) | |
12 | g.51762590T>G | CA384884030 | SCN8A | c.2458T>G (p.Phe820Val) c.305T>G c.462T>G n.2586T>G c.2491T>G (p.Phe831Val) | |
12 | g.51762591T>A | CA384884042 | SCN8A | c.2459T>A (p.Phe820Tyr) c.306T>A c.463T>A n.2587T>A c.2492T>A (p.Phe831Tyr) | |
12 | g.51762591T>C | CA384884044 | SCN8A | c.2459T>C (p.Phe820Ser) c.306T>C c.463T>C n.2587T>C c.2492T>C (p.Phe831Ser) | |
12 | g.51762591T>G | CA384884047 | SCN8A | c.2459T>G (p.Phe820Cys) c.306T>G c.463T>G n.2587T>G c.2492T>G (p.Phe831Cys) | |
12 | g.51762592T>A | CA384884049 | SCN8A | c.2460T>A (p.Phe820Leu) c.307T>A c.464T>A n.2588T>A c.2493T>A (p.Phe831Leu) | |
12 | g.51762592T>C | CA479788252 | SCN8A | c.2460T>C (p.Phe820=) c.307T>C c.464T>C n.2588T>C c.2493T>C (p.Phe831=) | |
12 | g.51762592T>G | CA384884053 | SCN8A | c.2460T>G (p.Phe820Leu) c.307T>G c.464T>G n.2588T>G c.2493T>G (p.Phe831Leu) | |
12 | g.51762593G>A | CA384884059 | SCN8A | c.2461G>A (p.Asp821Asn) c.308G>A c.465G>A n.2589G>A c.2494G>A (p.Asp832Asn) | |
12 | g.51762593G>C | CA384884070 | SCN8A | c.2461G>C (p.Asp821His) c.308G>C c.465G>C n.2589G>C c.2494G>C (p.Asp832His) |