Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.51751426T>A | CA384879845 | SCN8A | c.2203T>A (p.Cys735Ser) c.50T>A c.207T>A n.2331T>A c.2236T>A (p.Cys746Ser) | |
12 | g.51751426T>C | CA384879846 | SCN8A | c.2203T>C (p.Cys735Arg) c.50T>C c.207T>C n.2331T>C c.2236T>C (p.Cys746Arg) | COSMIC |
12 | g.51751426T>G | CA384879847 | SCN8A | c.2203T>G (p.Cys735Gly) c.50T>G c.207T>G n.2331T>G c.2236T>G (p.Cys746Gly) | |
12 | g.51751427G>A | CA384879850 | SCN8A | c.2204G>A (p.Cys735Tyr) c.51G>A c.208G>A n.2332G>A c.2237G>A (p.Cys746Tyr) | |
12 | g.51751427G>C | CA384879848 | SCN8A | c.2204G>C (p.Cys735Ser) c.51G>C c.208G>C n.2332G>C c.2237G>C (p.Cys746Ser) | |
12 | g.51751427G>T | CA384879849 | SCN8A | c.2204G>T (p.Cys735Phe) c.51G>T c.208G>T n.2332G>T c.2237G>T (p.Cys746Phe) | |
12 | g.51751428C>A | CA384879851 | SCN8A | c.2205C>A (p.Cys735Ter) c.52C>A c.209C>A n.2333C>A c.2238C>A (p.Cys746Ter) | dbSNP |
12 | g.51751428C= | CA2036196209 | SCN8A | c.2205C= (p.Cys735=) c.52C= c.209C= n.2333C= c.2238C= (p.Cys746=) | |
12 | g.51751428C>G | CA384879852 | SCN8A | c.2205C>G (p.Cys735Trp) c.52C>G c.209C>G n.2333C>G c.2238C>G (p.Cys746Trp) | |
12 | g.51751428C>T | CA480061047 | SCN8A | c.2205C>T (p.Cys735=) c.52C>T c.209C>T n.2333C>T c.2238C>T (p.Cys746=) | |
12 | g.51751429C>A | CA384879853 | SCN8A | c.2206C>A (p.His736Asn) c.53C>A c.210C>A n.2334C>A c.2239C>A (p.His747Asn) | |
12 | g.51751429C= | CA2036196212 | SCN8A | c.2206C= (p.His736=) c.53C= c.210C= n.2334C= c.2239C= (p.His747=) | |
12 | g.51751429C>G | CA384879854 | SCN8A | c.2206C>G (p.His736Asp) c.53C>G c.210C>G n.2334C>G c.2239C>G (p.His747Asp) | |
12 | g.51751429C>T | CA384879855 | SCN8A | c.2206C>T (p.His736Tyr) c.53C>T c.210C>T n.2334C>T c.2239C>T (p.His747Tyr) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
12 | g.51751430A>C | CA384879856 | SCN8A | c.2207A>C (p.His736Pro) c.54A>C c.211A>C n.2335A>C c.2240A>C (p.His747Pro) | |
12 | g.51751430A>G | CA384879857 | SCN8A | c.2207A>G (p.His736Arg) c.54A>G c.211A>G n.2335A>G c.2240A>G (p.His747Arg) | gnomAD v4 |
12 | g.51751430A>T | CA384879858 | SCN8A | c.2207A>T (p.His736Leu) c.54A>T c.211A>T n.2335A>T c.2240A>T (p.His747Leu) | gnomAD v4 |
12 | g.51751431C>A | CA384879859 | SCN8A | c.2208C>A (p.His736Gln) c.55C>A c.212C>A n.2336C>A c.2241C>A (p.His747Gln) | |
12 | g.51751431C>G | CA384879860 | SCN8A | c.2208C>G (p.His736Gln) c.55C>G c.212C>G n.2336C>G c.2241C>G (p.His747Gln) | gnomAD v4 |
12 | g.51751431C>T | CA480061052 | SCN8A | c.2208C>T (p.His736=) c.55C>T c.212C>T n.2336C>T c.2241C>T (p.His747=) | |
12 | g.51751432C>A | CA384879861 | SCN8A | c.2209C>A (p.Pro737Thr) c.56C>A c.213C>A n.2337C>A c.2242C>A (p.Pro748Thr) | gnomAD v4 |
12 | g.51751432C>G | CA384879862 | SCN8A | c.2209C>G (p.Pro737Ala) c.56C>G c.213C>G n.2337C>G c.2242C>G (p.Pro748Ala) | gnomAD v4 |
12 | g.51751432C>T | CA384879863 | SCN8A | c.2209C>T (p.Pro737Ser) c.56C>T c.213C>T n.2337C>T c.2242C>T (p.Pro748Ser) | |
12 | g.51751433C>A | CA384879865 | SCN8A | c.2210C>A (p.Pro737His) c.57C>A c.214C>A n.2338C>A c.2243C>A (p.Pro748His) | |
12 | g.51751433C>G | CA384879866 | SCN8A | c.2210C>G (p.Pro737Arg) c.57C>G c.214C>G n.2338C>G c.2243C>G (p.Pro748Arg) | |
12 | g.51751433C>T | CA384879864 | SCN8A | c.2210C>T (p.Pro737Leu) c.57C>T c.214C>T n.2338C>T c.2243C>T (p.Pro748Leu) | |
12 | g.51751434C>A | CA480061056 | SCN8A | c.2211C>A (p.Pro737=) c.58C>A c.215C>A n.2339C>A c.2244C>A (p.Pro748=) | |
12 | g.51751434C= | CA2036196214 | SCN8A | c.2211C= (p.Pro737=) c.58C= c.215C= n.2339C= c.2244C= (p.Pro748=) | |
12 | g.51751434C>G | CA480061057 | SCN8A | c.2211C>G (p.Pro737=) c.58C>G c.215C>G n.2339C>G c.2244C>G (p.Pro748=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51751434C>T | CA480061058 | SCN8A | c.2211C>T (p.Pro737=) c.58C>T c.215C>T n.2339C>T c.2244C>T (p.Pro748=) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.51751435T>A | CA384879867 | SCN8A | c.2212T>A (p.Tyr738Asn) c.59T>A c.216T>A n.2340T>A c.2245T>A (p.Tyr749Asn) | |
12 | g.51751435T>C | CA384879869 | SCN8A | c.2212T>C (p.Tyr738His) c.59T>C c.216T>C n.2340T>C c.2245T>C (p.Tyr749His) | |
12 | g.51751435T>G | CA384879868 | SCN8A | c.2212T>G (p.Tyr738Asp) c.59T>G c.216T>G n.2340T>G c.2245T>G (p.Tyr749Asp) | |
12 | g.51751436A>C | CA384879870 | SCN8A | c.2213A>C (p.Tyr738Ser) c.60A>C c.217A>C n.2341A>C c.2246A>C (p.Tyr749Ser) | |
12 | g.51751436A>G | CA384879871 | SCN8A | c.2213A>G (p.Tyr738Cys) c.60A>G c.217A>G n.2341A>G c.2246A>G (p.Tyr749Cys) | |
12 | g.51751436A>T | CA384879872 | SCN8A | c.2213A>T (p.Tyr738Phe) c.60A>T c.217A>T n.2341A>T c.2246A>T (p.Tyr749Phe) | |
12 | g.51751437C>A | CA384879873 | SCN8A | c.2214C>A (p.Tyr738Ter) c.61C>A c.218C>A n.2342C>A c.2247C>A (p.Tyr749Ter) | |
12 | g.51751437C>G | CA384879874 | SCN8A | c.2214C>G (p.Tyr738Ter) c.61C>G c.218C>G n.2342C>G c.2247C>G (p.Tyr749Ter) | |
12 | g.51751437C>T | CA480061061 | SCN8A | c.2214C>T (p.Tyr738=) c.61C>T c.218C>T n.2342C>T c.2247C>T (p.Tyr749=) | gnomAD v4 |
12 | g.51751438T>A | CA384879875 | SCN8A | c.2215T>A (p.Trp739Arg) c.62T>A c.219T>A n.2343T>A c.2248T>A (p.Trp750Arg) | |
12 | g.51751438T>C | CA384879876 | SCN8A | c.2215T>C (p.Trp739Arg) c.62T>C c.219T>C n.2343T>C c.2248T>C (p.Trp750Arg) | |
12 | g.51751438T>G | CA384879877 | SCN8A | c.2215T>G (p.Trp739Gly) c.62T>G c.219T>G n.2343T>G c.2248T>G (p.Trp750Gly) | |
12 | g.51751439G>A | CA384879878 | SCN8A | c.2216G>A (p.Trp739Ter) c.63G>A c.220G>A n.2344G>A c.2249G>A (p.Trp750Ter) | |
12 | g.51751439G>C | CA384879879 | SCN8A | c.2216G>C (p.Trp739Ser) c.63G>C c.220G>C n.2344G>C c.2249G>C (p.Trp750Ser) | |
12 | g.51751439G>T | CA384879880 | SCN8A | c.2216G>T (p.Trp739Leu) c.63G>T c.220G>T n.2344G>T c.2249G>T (p.Trp750Leu) | |
12 | g.51751440G>A | CA384879883 | SCN8A | c.2217G>A (p.Trp739Ter) c.64G>A c.221G>A n.2345G>A c.2250G>A (p.Trp750Ter) | dbSNP |
12 | g.51751440G>C | CA384879882 | SCN8A | c.2217G>C (p.Trp739Cys) c.64G>C c.221G>C n.2345G>C c.2250G>C (p.Trp750Cys) | |
12 | g.51751440G= | CA2036196216 | SCN8A | c.2217G= (p.Trp739=) c.64G= c.221G= n.2345G= c.2250G= (p.Trp750=) | |
12 | g.51751440G>T | CA384879881 | SCN8A | c.2217G>T (p.Trp739Cys) c.64G>T c.221G>T n.2345G>T c.2250G>T (p.Trp750Cys) | |
12 | g.51751441A>C | CA384879884 | SCN8A | c.2218A>C (p.Ile740Leu) c.65A>C c.222A>C n.2346A>C c.2251A>C (p.Ile751Leu) | |
12 | g.51751441A>G | CA384879885 | SCN8A | c.2218A>G (p.Ile740Val) c.65A>G c.222A>G n.2346A>G c.2251A>G (p.Ile751Val) | |
12 | g.51751441A>T | CA384879886 | SCN8A | c.2218A>T (p.Ile740Leu) c.65A>T c.222A>T n.2346A>T c.2251A>T (p.Ile751Leu) | |
12 | g.51751442T>A | CA384879887 | SCN8A | c.2219T>A (p.Ile740Lys) c.66T>A c.223T>A n.2347T>A c.2252T>A (p.Ile751Lys) | dbSNP |
12 | g.51751442T>C | CA384879888 | SCN8A | c.2219T>C (p.Ile740Thr) c.66T>C c.223T>C n.2347T>C c.2252T>C (p.Ile751Thr) | |
12 | g.51751442T>G | CA384879889 | SCN8A | c.2219T>G (p.Ile740Arg) c.66T>G c.223T>G n.2347T>G c.2252T>G (p.Ile751Arg) | |
12 | g.51751442T= | CA2036196219 | SCN8A | c.2219T= (p.Ile740=) c.66T= c.223T= n.2347T= c.2252T= (p.Ile751=) | |
12 | g.51751443A>C | CA480061065 | SCN8A | c.2220A>C (p.Ile740=) c.67A>C c.224A>C n.2348A>C c.2253A>C (p.Ile751=) | |
12 | g.51751443A>G | CA384879890 | SCN8A | c.2220A>G (p.Ile740Met) c.67A>G c.224A>G n.2348A>G c.2253A>G (p.Ile751Met) | |
12 | g.51751443A>T | CA480061066 | SCN8A | c.2220A>T (p.Ile740=) c.67A>T c.224A>T n.2348A>T c.2253A>T (p.Ile751=) | |
12 | g.51751444A= | CA2036196220 | SCN8A | c.2221A= (p.Lys741=) c.68A= c.225A= n.2349A= c.2254A= (p.Lys752=) | |
12 | g.51751444A>C | CA384879891 | SCN8A | c.2221A>C (p.Lys741Gln) c.68A>C c.225A>C n.2349A>C c.2254A>C (p.Lys752Gln) | |
12 | g.51751444A>G | CA384879892 | SCN8A | c.2221A>G (p.Lys741Glu) c.68A>G c.225A>G n.2349A>G c.2254A>G (p.Lys752Glu) | |
12 | g.51751444A>T | CA384879893 | SCN8A | c.2221A>T (p.Lys741Ter) c.68A>T c.225A>T n.2349A>T c.2254A>T (p.Lys752Ter) | dbSNP |
12 | g.51751445A>C | CA384879894 | SCN8A | c.2222A>C (p.Lys741Thr) c.69A>C c.226A>C n.2350A>C c.2255A>C (p.Lys752Thr) | |
12 | g.51751445A>G | CA384879895 | SCN8A | c.2222A>G (p.Lys741Arg) c.69A>G c.226A>G n.2350A>G c.2255A>G (p.Lys752Arg) | |
12 | g.51751445A>T | CA384879896 | SCN8A | c.2222A>T (p.Lys741Ile) c.69A>T c.226A>T n.2350A>T c.2255A>T (p.Lys752Ile) | |
12 | g.51751446A>C | CA384879897 | SCN8A | c.2223A>C (p.Lys741Asn) c.70A>C c.227A>C n.2351A>C c.2256A>C (p.Lys752Asn) | |
12 | g.51751446A>G | CA480061067 | SCN8A | c.2223A>G (p.Lys741=) c.70A>G c.227A>G n.2351A>G c.2256A>G (p.Lys752=) | |
12 | g.51751446A>T | CA384879898 | SCN8A | c.2223A>T (p.Lys741Asn) c.70A>T c.227A>T n.2351A>T c.2256A>T (p.Lys752Asn) | |
12 | g.51751447C>A | CA236311216 | SCN8A | c.2224C>A (p.Leu742Met) c.71C>A c.228C>A n.2352C>A c.2257C>A (p.Leu753Met) | dbSNP |
12 | g.51751447C= | CA2036196222 | SCN8A | c.2224C= (p.Leu742=) c.71C= c.228C= n.2352C= c.2257C= (p.Leu753=) | |
12 | g.51751447C>G | CA384879899 | SCN8A | c.2224C>G (p.Leu742Val) c.71C>G c.228C>G n.2352C>G c.2257C>G (p.Leu753Val) | |
12 | g.51751447C>T | CA480061070 | SCN8A | c.2224C>T (p.Leu742=) c.71C>T c.228C>T n.2352C>T c.2257C>T (p.Leu753=) | gnomAD v4 |
12 | g.51751448T>A | CA384879900 | SCN8A | c.2225T>A (p.Leu742Gln) c.72T>A c.229T>A n.2353T>A c.2258T>A (p.Leu753Gln) | |
12 | g.51751448T>C | CA384879901 | SCN8A | c.2225T>C (p.Leu742Pro) c.72T>C c.229T>C n.2353T>C c.2258T>C (p.Leu753Pro) | ClinVar |
12 | g.51751448T>G | CA384879902 | SCN8A | c.2225T>G (p.Leu742Arg) c.72T>G c.229T>G n.2353T>G c.2258T>G (p.Leu753Arg) | |
12 | g.51751449G>A | CA480061074 | SCN8A | c.2226G>A (p.Leu742=) c.73G>A c.230G>A n.2354G>A c.2259G>A (p.Leu753=) | dbSNP |
12 | g.51751449G>C | CA480061075 | SCN8A | c.2226G>C (p.Leu742=) c.73G>C c.230G>C n.2354G>C c.2259G>C (p.Leu753=) | |
12 | g.51751449G= | CA2036196224 | SCN8A | c.2226G= (p.Leu742=) c.73G= c.230G= n.2354G= c.2259G= (p.Leu753=) | |
12 | g.51751449G>T | CA480061076 | SCN8A | c.2226G>T (p.Leu742=) c.73G>T c.230G>T n.2354G>T c.2259G>T (p.Leu753=) | |
12 | g.51751450A= | CA2036196227 | SCN8A | c.2227A= (p.Lys743=) c.74A= c.231A= n.2355A= c.2260A= (p.Lys754=) | |
12 | g.51751450A>C | CA384879903 | SCN8A | c.2227A>C (p.Lys743Gln) c.74A>C c.231A>C n.2355A>C c.2260A>C (p.Lys754Gln) | |
12 | g.51751450A>G | CA384879904 | SCN8A | c.2227A>G (p.Lys743Glu) c.74A>G c.231A>G n.2355A>G c.2260A>G (p.Lys754Glu) | |
12 | g.51751450A>T | CA384879905 | SCN8A | c.2227A>T (p.Lys743Ter) c.74A>T c.231A>T n.2355A>T c.2260A>T (p.Lys754Ter) | dbSNP |
12 | g.51751451A>C | CA384879906 | SCN8A | c.2228A>C (p.Lys743Thr) c.75A>C c.232A>C n.2356A>C c.2261A>C (p.Lys754Thr) | |
12 | g.51751451A>G | CA384879907 | SCN8A | c.2228A>G (p.Lys743Arg) c.75A>G c.232A>G n.2356A>G c.2261A>G (p.Lys754Arg) | |
12 | g.51751451A>T | CA384879908 | SCN8A | c.2228A>T (p.Lys743Ile) c.75A>T c.232A>T n.2356A>T c.2261A>T (p.Lys754Ile) | |
12 | g.51751452A>C | CA384879909 | SCN8A | c.2229A>C (p.Lys743Asn) c.76A>C c.233A>C n.2357A>C c.2262A>C (p.Lys754Asn) | |
12 | g.51751452A>G | CA480061080 | SCN8A | c.2229A>G (p.Lys743=) c.76A>G c.233A>G n.2357A>G c.2262A>G (p.Lys754=) | |
12 | g.51751452A>T | CA384879910 | SCN8A | c.2229A>T (p.Lys743Asn) c.76A>T c.233A>T n.2357A>T c.2262A>T (p.Lys754Asn) | |
12 | g.51751453G>A | CA384879913 | SCN8A | c.2230G>A (p.Glu744Lys) c.77G>A c.234G>A n.2358G>A c.2263G>A (p.Glu755Lys) | |
12 | g.51751453G>C | CA384879911 | SCN8A | c.2230G>C (p.Glu744Gln) c.77G>C c.234G>C n.2358G>C c.2263G>C (p.Glu755Gln) | |
12 | g.51751453G= | CA2036196232 | SCN8A | c.2230G= (p.Glu744=) c.77G= c.234G= n.2358G= c.2263G= (p.Glu755=) | |
12 | g.51751453G>T | CA384879912 | SCN8A | c.2230G>T (p.Glu744Ter) c.77G>T c.234G>T n.2358G>T c.2263G>T (p.Glu755Ter) | dbSNP |
12 | g.51751454A>C | CA384879914 | SCN8A | c.2231A>C (p.Glu744Ala) c.78A>C c.235A>C n.2359A>C c.2264A>C (p.Glu755Ala) | gnomAD v4 |
12 | g.51751454A>G | CA384879915 | SCN8A | c.2231A>G (p.Glu744Gly) c.78A>G c.235A>G n.2359A>G c.2264A>G (p.Glu755Gly) | gnomAD v4 |
12 | g.51751454A>T | CA384879916 | SCN8A | c.2231A>T (p.Glu744Val) c.78A>T c.235A>T n.2359A>T c.2264A>T (p.Glu755Val) | |
12 | g.51751455G>A | CA480061081 | SCN8A | c.2232G>A (p.Glu744=) c.79G>A c.236G>A n.2360G>A c.2265G>A (p.Glu755=) | |
12 | g.51751455G>C | CA384879917 | SCN8A | c.2232G>C (p.Glu744Asp) c.79G>C c.236G>C n.2360G>C c.2265G>C (p.Glu755Asp) | |
12 | g.51751455G>T | CA384879918 | SCN8A | c.2232G>T (p.Glu744Asp) c.79G>T c.236G>T n.2360G>T c.2265G>T (p.Glu755Asp) | |
12 | g.51751456A>C | CA384879919 | SCN8A | c.2233A>C (p.Ile745Leu) c.80A>C c.237A>C n.2361A>C c.2266A>C (p.Ile756Leu) | |
12 | g.51751456A>G | CA384879920 | SCN8A | c.2233A>G (p.Ile745Val) c.80A>G c.237A>G n.2361A>G c.2266A>G (p.Ile756Val) | |
12 | g.51751456A>T | CA384879921 | SCN8A | c.2233A>T (p.Ile745Phe) c.80A>T c.237A>T n.2361A>T c.2266A>T (p.Ile756Phe) | |
12 | g.51751457T>A | CA384879922 | SCN8A | c.2234T>A (p.Ile745Asn) c.81T>A c.238T>A n.2362T>A c.2267T>A (p.Ile756Asn) | |
12 | g.51751457T>C | CA384879923 | SCN8A | c.2234T>C (p.Ile745Thr) c.81T>C c.238T>C n.2362T>C c.2267T>C (p.Ile756Thr) | ClinVar dbSNP |
12 | g.51751457T>G | CA384879924 | SCN8A | c.2234T>G (p.Ile745Ser) c.81T>G c.238T>G n.2362T>G c.2267T>G (p.Ile756Ser) | |
12 | g.51751457T= | CA2036196235 | SCN8A | c.2234T= (p.Ile745=) c.81T= c.238T= n.2362T= c.2267T= (p.Ile756=) | |
12 | g.51751458T>A | CA480061088 | SCN8A | c.2235T>A (p.Ile745=) c.82T>A c.239T>A n.2363T>A c.2268T>A (p.Ile756=) | |
12 | g.51751458T>C | CA480061089 | SCN8A | c.2235T>C (p.Ile745=) c.82T>C c.239T>C n.2363T>C c.2268T>C (p.Ile756=) | |
12 | g.51751458T>G | CA384879925 | SCN8A | c.2235T>G (p.Ile745Met) c.82T>G c.239T>G n.2363T>G c.2268T>G (p.Ile756Met) | dbSNP |
12 | g.51751458T= | CA2036196240 | SCN8A | c.2235T= (p.Ile745=) c.82T= c.239T= n.2363T= c.2268T= (p.Ile756=) | |
12 | g.51751459G>A | CA384879927 | SCN8A | c.2236G>A (p.Val746Met) c.83G>A c.240G>A n.2364G>A c.2269G>A (p.Val757Met) | |
12 | g.51751459G>C | CA384879928 | SCN8A | c.2236G>C (p.Val746Leu) c.83G>C c.240G>C n.2364G>C c.2269G>C (p.Val757Leu) | |
12 | g.51751459G>T | CA384879926 | SCN8A | c.2236G>T (p.Val746Leu) c.83G>T c.240G>T n.2364G>T c.2269G>T (p.Val757Leu) | |
12 | g.51751460T>A | CA384879929 | SCN8A | c.2237T>A (p.Val746Glu) c.84T>A c.241T>A n.2365T>A c.2270T>A (p.Val757Glu) | |
12 | g.51751460T>C | CA384879931 | SCN8A | c.2237T>C (p.Val746Ala) c.84T>C c.241T>C n.2365T>C c.2270T>C (p.Val757Ala) | |
12 | g.51751460T>G | CA384879930 | SCN8A | c.2237T>G (p.Val746Gly) c.84T>G c.241T>G n.2365T>G c.2270T>G (p.Val757Gly) | |
12 | g.51751461G>A | CA480061091 | SCN8A | c.2238G>A (p.Val746=) c.85G>A c.242G>A n.2366G>A c.2271G>A (p.Val757=) | |
12 | g.51751461G>C | CA480061092 | SCN8A | c.2238G>C (p.Val746=) c.85G>C c.242G>C n.2366G>C c.2271G>C (p.Val757=) | |
12 | g.51751461G>T | CA480061093 | SCN8A | c.2238G>T (p.Val746=) c.85G>T c.242G>T n.2366G>T c.2271G>T (p.Val757=) | |
12 | g.51751462A= | CA2036196244 | SCN8A | c.2239A= (p.Asn747=) c.86A= c.243A= n.2367A= c.2272A= (p.Asn758=) | |
12 | g.51751462A>C | CA384879932 | SCN8A | c.2239A>C (p.Asn747His) c.86A>C c.243A>C n.2367A>C c.2272A>C (p.Asn758His) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.51751462A>G | CA384879934 | SCN8A | c.2239A>G (p.Asn747Asp) c.86A>G c.243A>G n.2367A>G c.2272A>G (p.Asn758Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51751462A>T | CA384879933 | SCN8A | c.2239A>T (p.Asn747Tyr) c.86A>T c.243A>T n.2367A>T c.2272A>T (p.Asn758Tyr) | |
12 | g.51751463A>C | CA384879935 | SCN8A | c.2240A>C (p.Asn747Thr) c.87A>C c.244A>C n.2368A>C c.2273A>C (p.Asn758Thr) | |
12 | g.51751463A>G | CA384879937 | SCN8A | c.2240A>G (p.Asn747Ser) c.87A>G c.244A>G n.2368A>G c.2273A>G (p.Asn758Ser) | |
12 | g.51751463A>T | CA384879936 | SCN8A | c.2240A>T (p.Asn747Ile) c.87A>T c.244A>T n.2368A>T c.2273A>T (p.Asn758Ile) | |
12 | g.51751464C>A | CA384879938 | SCN8A | c.2241C>A (p.Asn747Lys) c.88C>A c.245C>A n.2369C>A c.2274C>A (p.Asn758Lys) | |
12 | g.51751464C>G | CA384879939 | SCN8A | c.2241C>G (p.Asn747Lys) c.88C>G c.245C>G n.2369C>G c.2274C>G (p.Asn758Lys) | |
12 | g.51751464C>T | CA480061095 | SCN8A | c.2241C>T (p.Asn747=) c.88C>T c.245C>T n.2369C>T c.2274C>T (p.Asn758=) | |
12 | g.51751465T>A | CA384879940 | SCN8A | c.2242T>A (p.Leu748Met) c.89T>A c.246T>A n.2370T>A c.2275T>A (p.Leu759Met) | |
12 | g.51751465T>C | CA480061098 | SCN8A | c.2242T>C (p.Leu748=) c.89T>C c.246T>C n.2370T>C c.2275T>C (p.Leu759=) | ClinVar dbSNP gnomAD v4 |
12 | g.51751465T>G | CA384879941 | SCN8A | c.2242T>G (p.Leu748Val) c.89T>G c.246T>G n.2370T>G c.2275T>G (p.Leu759Val) | |
12 | g.51751466T>A | CA384879942 | SCN8A | c.2243T>A (p.Leu748Ter) c.90T>A c.247T>A n.2371T>A c.2276T>A (p.Leu759Ter) | dbSNP |
12 | g.51751466T>C | CA384879943 | SCN8A | c.2243T>C (p.Leu748Ser) c.90T>C c.247T>C n.2371T>C c.2276T>C (p.Leu759Ser) | |
12 | g.51751466T>G | CA384879944 | SCN8A | c.2243T>G (p.Leu748Trp) c.90T>G c.247T>G n.2371T>G c.2276T>G (p.Leu759Trp) | |
12 | g.51751466T= | CA2036196246 | SCN8A | c.2243T= (p.Leu748=) c.90T= c.247T= n.2371T= c.2276T= (p.Leu759=) | |
12 | g.51751467G>A | CA480061100 | SCN8A | c.2244G>A (p.Leu748=) c.91G>A c.248G>A n.2372G>A c.2277G>A (p.Leu759=) | gnomAD v4 |
12 | g.51751467G>C | CA384879945 | SCN8A | c.2244G>C (p.Leu748Phe) c.91G>C c.248G>C n.2372G>C c.2277G>C (p.Leu759Phe) | |
12 | g.51751467G>T | CA384879946 | SCN8A | c.2244G>T (p.Leu748Phe) c.91G>T c.248G>T n.2372G>T c.2277G>T (p.Leu759Phe) | |
12 | g.51751468A= | CA2036196249 | SCN8A | c.2245A= (p.Ile749=) c.92A= c.249A= n.2373A= c.2278A= (p.Ile760=) | |
12 | g.51751468A>C | CA384879947 | SCN8A | c.2245A>C (p.Ile749Leu) c.92A>C c.249A>C n.2373A>C c.2278A>C (p.Ile760Leu) | |
12 | g.51751468A>G | CA384879948 | SCN8A | c.2245A>G (p.Ile749Val) c.92A>G c.249A>G n.2373A>G c.2278A>G (p.Ile760Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.51751468A>T | CA384879949 | SCN8A | c.2245A>T (p.Ile749Leu) c.92A>T c.249A>T n.2373A>T c.2278A>T (p.Ile760Leu) | |
12 | g.51751469T>A | CA384879950 | SCN8A | c.2246T>A (p.Ile749Lys) c.93T>A c.250T>A n.2374T>A c.2279T>A (p.Ile760Lys) | |
12 | g.51751469T>C | CA384879952 | SCN8A | c.2246T>C (p.Ile749Thr) c.93T>C c.250T>C n.2374T>C c.2279T>C (p.Ile760Thr) | gnomAD v4 |
12 | g.51751469T>G | CA384879951 | SCN8A | c.2246T>G (p.Ile749Arg) c.93T>G c.250T>G n.2374T>G c.2279T>G (p.Ile760Arg) | |
12 | g.51751470A>C | CA480061101 | SCN8A | c.2247A>C (p.Ile749=) c.94A>C c.251A>C n.2375A>C c.2280A>C (p.Ile760=) | |
12 | g.51751470A>G | CA384879953 | SCN8A | c.2247A>G (p.Ile749Met) c.94A>G c.251A>G n.2375A>G c.2280A>G (p.Ile760Met) | |
12 | g.51751470A>T | CA480061103 | SCN8A | c.2247A>T (p.Ile749=) c.94A>T c.251A>T n.2375A>T c.2280A>T (p.Ile760=) | |
12 | g.51751471G>A | CA384879954 | SCN8A | c.2248G>A (p.Val750Ile) c.95G>A c.252G>A n.2376G>A c.2281G>A (p.Val761Ile) | ClinVar dbSNP |
12 | g.51751471G>C | CA384879955 | SCN8A | c.2248G>C (p.Val750Leu) c.95G>C c.252G>C n.2376G>C c.2281G>C (p.Val761Leu) | |
12 | g.51751471G= | CA2036196253 | SCN8A | c.2248G= (p.Val750=) c.95G= c.252G= n.2376G= c.2281G= (p.Val761=) | |
12 | g.51751471G>T | CA384879956 | SCN8A | c.2248G>T (p.Val750Phe) c.95G>T c.252G>T n.2376G>T c.2281G>T (p.Val761Phe) | |
12 | g.51751472T>A | CA384879957 | SCN8A | c.2249T>A (p.Val750Asp) c.96T>A c.253T>A n.2377T>A c.2282T>A (p.Val761Asp) | |
12 | g.51751472T>C | CA384879958 | SCN8A | c.2249T>C (p.Val750Ala) c.96T>C c.253T>C n.2377T>C c.2282T>C (p.Val761Ala) | |
12 | g.51751472T>G | CA384879959 | SCN8A | c.2249T>G (p.Val750Gly) c.96T>G c.253T>G n.2377T>G c.2282T>G (p.Val761Gly) | |
12 | g.51751473T>A | CA480061107 | SCN8A | c.2250T>A (p.Val750=) c.97T>A c.254T>A n.2378T>A c.2283T>A (p.Val761=) | |
12 | g.51751473T>C | CA236311217 | SCN8A | c.2250T>C (p.Val750=) c.97T>C c.254T>C n.2378T>C c.2283T>C (p.Val761=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51751473T>G | CA480061106 | SCN8A | c.2250T>G (p.Val750=) c.97T>G c.254T>G n.2378T>G c.2283T>G (p.Val761=) | |
12 | g.51751473T= | CA2036196255 | SCN8A | c.2250T= (p.Val750=) c.97T= c.254T= n.2378T= c.2283T= (p.Val761=) | |
12 | g.51751474A= | CA2036196257 | SCN8A | c.2251A= (p.Met751=) c.98A= c.255A= n.2379A= c.2284A= (p.Met762=) | |
12 | g.51751474A>C | CA384879960 | SCN8A | c.2251A>C (p.Met751Leu) c.98A>C c.255A>C n.2379A>C c.2284A>C (p.Met762Leu) | |
12 | g.51751474A>G | CA384879961 | SCN8A | c.2251A>G (p.Met751Val) c.98A>G c.255A>G n.2379A>G c.2284A>G (p.Met762Val) | ClinVar dbSNP |
12 | g.51751474A>T | CA384879962 | SCN8A | c.2251A>T (p.Met751Leu) c.98A>T c.255A>T n.2379A>T c.2284A>T (p.Met762Leu) | |
12 | g.51751475T>A | CA384879965 | SCN8A | c.2252T>A (p.Met751Lys) c.99T>A c.256T>A n.2380T>A c.2285T>A (p.Met762Lys) | |
12 | g.51751475T>C | CA384879964 | SCN8A | c.2252T>C (p.Met751Thr) c.99T>C c.256T>C n.2380T>C c.2285T>C (p.Met762Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51751475T>G | CA384879963 | SCN8A | c.2252T>G (p.Met751Arg) c.99T>G c.256T>G n.2380T>G c.2285T>G (p.Met762Arg) | |
12 | g.51751475T= | CA2036196260 | SCN8A | c.2252T= (p.Met751=) c.99T= c.256T= n.2380T= c.2285T= (p.Met762=) | |
12 | g.51751476G>A | CA384879968 | SCN8A | c.2253G>A (p.Met751Ile) c.100G>A c.257G>A n.2381G>A c.2286G>A (p.Met762Ile) | |
12 | g.51751476G>C | CA384879966 | SCN8A | c.2253G>C (p.Met751Ile) c.100G>C c.257G>C n.2381G>C c.2286G>C (p.Met762Ile) | |
12 | g.51751476G>T | CA384879967 | SCN8A | c.2253G>T (p.Met751Ile) c.100G>T c.257G>T n.2381G>T c.2286G>T (p.Met762Ile) | |
12 | g.51751477G>A | CA384879969 | SCN8A | c.2254G>A (p.Asp752Asn) c.101G>A c.258G>A n.2382G>A c.2287G>A (p.Asp763Asn) | |
12 | g.51751477G>C | CA384879970 | SCN8A | c.2254G>C (p.Asp752His) c.101G>C c.258G>C n.2382G>C c.2287G>C (p.Asp763His) | |
12 | g.51751477G>T | CA384879971 | SCN8A | c.2254G>T (p.Asp752Tyr) c.101G>T c.258G>T n.2382G>T c.2287G>T (p.Asp763Tyr) | |
12 | g.51751478A>C | CA384879972 | SCN8A | c.2255A>C (p.Asp752Ala) c.102A>C c.259A>C n.2383A>C c.2288A>C (p.Asp763Ala) | |
12 | g.51751478A>G | CA384879973 | SCN8A | c.2255A>G (p.Asp752Gly) c.102A>G c.259A>G n.2383A>G c.2288A>G (p.Asp763Gly) | |
12 | g.51751478A>T | CA384879974 | SCN8A | c.2255A>T (p.Asp752Val) c.102A>T c.259A>T n.2383A>T c.2288A>T (p.Asp763Val) | |
12 | g.51751479C>A | CA384879975 | SCN8A | c.2256C>A (p.Asp752Glu) c.103C>A c.260C>A n.2384C>A c.2289C>A (p.Asp763Glu) | dbSNP gnomAD v4 |
12 | g.51751479C= | CA2036196262 | SCN8A | c.2256C= (p.Asp752=) c.103C= c.260C= n.2384C= c.2289C= (p.Asp763=) | |
12 | g.51751479C>G | CA384879976 | SCN8A | c.2256C>G (p.Asp752Glu) c.103C>G c.260C>G n.2384C>G c.2289C>G (p.Asp763Glu) | |
12 | g.51751479C>T | CA480061110 | SCN8A | c.2256C>T (p.Asp752=) c.103C>T c.260C>T n.2384C>T c.2289C>T (p.Asp763=) | |
12 | g.51751480C>A | CA384879977 | SCN8A | c.2257C>A (p.Pro753Thr) c.104C>A c.261C>A n.2385C>A c.2290C>A (p.Pro764Thr) | |
12 | g.51751480C>G | CA384879978 | SCN8A | c.2257C>G (p.Pro753Ala) c.104C>G c.261C>G n.2385C>G c.2290C>G (p.Pro764Ala) | gnomAD v4 |
12 | g.51751480C>T | CA384879979 | SCN8A | c.2257C>T (p.Pro753Ser) c.104C>T c.261C>T n.2385C>T c.2290C>T (p.Pro764Ser) | |
12 | g.51751481C>A | CA384879980 | SCN8A | c.2258C>A (p.Pro753His) c.105C>A c.262C>A n.2386C>A c.2291C>A (p.Pro764His) | |
12 | g.51751481C>G | CA384879982 | SCN8A | c.2258C>G (p.Pro753Arg) c.105C>G c.262C>G n.2386C>G c.2291C>G (p.Pro764Arg) | |
12 | g.51751481C>T | CA384879981 | SCN8A | c.2258C>T (p.Pro753Leu) c.105C>T c.262C>T n.2386C>T c.2291C>T (p.Pro764Leu) | |
12 | g.51751482T>A | CA480061111 | SCN8A | c.2259T>A (p.Pro753=) c.106T>A c.263T>A n.2387T>A c.2292T>A (p.Pro764=) | |
12 | g.51751482T>C | CA480061112 | SCN8A | c.2259T>C (p.Pro753=) c.106T>C c.263T>C n.2387T>C c.2292T>C (p.Pro764=) | |
12 | g.51751482T>G | CA480061113 | SCN8A | c.2259T>G (p.Pro753=) c.106T>G c.263T>G n.2387T>G c.2292T>G (p.Pro764=) | |
12 | g.51751483T>A | CA384879983 | SCN8A | c.2260T>A (p.Phe754Ile) c.107T>A c.264T>A n.2388T>A c.2293T>A (p.Phe765Ile) | |
12 | g.51751483T>C | CA384879984 | SCN8A | c.2260T>C (p.Phe754Leu) c.107T>C c.264T>C n.2388T>C c.2293T>C (p.Phe765Leu) | |
12 | g.51751483T>G | CA384879985 | SCN8A | c.2260T>G (p.Phe754Val) c.107T>G c.264T>G n.2388T>G c.2293T>G (p.Phe765Val) | |
12 | g.51751484T>A | CA384879986 | SCN8A | c.2261T>A (p.Phe754Tyr) c.108T>A c.265T>A n.2389T>A c.2294T>A (p.Phe765Tyr) | |
12 | g.51751484T>C | CA384879987 | SCN8A | c.2261T>C (p.Phe754Ser) c.108T>C c.265T>C n.2389T>C c.2294T>C (p.Phe765Ser) | |
12 | g.51751484T>G | CA384879988 | SCN8A | c.2261T>G (p.Phe754Cys) c.108T>G c.265T>G n.2389T>G c.2294T>G (p.Phe765Cys) | |
12 | g.51751485T>A | CA384879989 | SCN8A | c.2262T>A (p.Phe754Leu) c.109T>A c.266T>A n.2390T>A c.2295T>A (p.Phe765Leu) | |
12 | g.51751485T>C | CA480061114 | SCN8A | c.2262T>C (p.Phe754=) c.109T>C c.266T>C n.2390T>C c.2295T>C (p.Phe765=) | dbSNP |
12 | g.51751485T>G | CA384879990 | SCN8A | c.2262T>G (p.Phe754Leu) c.109T>G c.266T>G n.2390T>G c.2295T>G (p.Phe765Leu) | |
12 | g.51751485T= | CA2036196265 | SCN8A | c.2262T= (p.Phe754=) c.109T= c.266T= n.2390T= c.2295T= (p.Phe765=) | |
12 | g.51751486G>A | CA384879991 | SCN8A | c.2263G>A (p.Val755Met) c.110G>A c.267G>A n.2391G>A c.2296G>A (p.Val766Met) | |
12 | g.51751486G>C | CA384879992 | SCN8A | c.2263G>C (p.Val755Leu) c.110G>C c.267G>C n.2391G>C c.2296G>C (p.Val766Leu) | ClinVar dbSNP |
12 | g.51751486G>T | CA384879993 | SCN8A | c.2263G>T (p.Val755Leu) c.110G>T c.267G>T n.2391G>T c.2296G>T (p.Val766Leu) | |
12 | g.51751487T>A | CA384879995 | SCN8A | c.2264T>A (p.Val755Glu) c.111T>A c.268T>A n.2392T>A c.2297T>A (p.Val766Glu) | |
12 | g.51751487T>C | CA384879996 | SCN8A | c.2264T>C (p.Val755Ala) c.111T>C c.268T>C n.2392T>C c.2297T>C (p.Val766Ala) | |
12 | g.51751487T>G | CA384879994 | SCN8A | c.2264T>G (p.Val755Gly) c.111T>G c.268T>G n.2392T>G c.2297T>G (p.Val766Gly) | gnomAD v4 |
12 | g.51751488G>A | CA480061116 | SCN8A | c.2265G>A (p.Val755=) c.112G>A c.269G>A n.2393G>A c.2298G>A (p.Val766=) | |
12 | g.51751488G>C | CA480061117 | SCN8A | c.2265G>C (p.Val755=) c.112G>C c.269G>C n.2393G>C c.2298G>C (p.Val766=) | ClinVar dbSNP gnomAD v4 |
12 | g.51751488G= | CA2036196269 | SCN8A | c.2265G= (p.Val755=) c.112G= c.269G= n.2393G= c.2298G= (p.Val766=) | |
12 | g.51751488G>T | CA480061118 | SCN8A | c.2265G>T (p.Val755=) c.112G>T c.269G>T n.2393G>T c.2298G>T (p.Val766=) | |
12 | g.51751489G>A | CA384879997 | SCN8A | c.2266G>A (p.Asp756Asn) c.113G>A c.270G>A n.2394G>A c.2299G>A (p.Asp767Asn) | ClinVar |
12 | g.51751489G>C | CA384879998 | SCN8A | c.2266G>C (p.Asp756His) c.113G>C c.270G>C n.2394G>C c.2299G>C (p.Asp767His) | |
12 | g.51751489G>T | CA384879999 | SCN8A | c.2266G>T (p.Asp756Tyr) c.113G>T c.270G>T n.2394G>T c.2299G>T (p.Asp767Tyr) | |
12 | g.51751490A>C | CA384880000 | SCN8A | c.2267A>C (p.Asp756Ala) c.114A>C c.271A>C n.2395A>C c.2300A>C (p.Asp767Ala) | |
12 | g.51751490A>G | CA384880001 | SCN8A | c.2267A>G (p.Asp756Gly) c.114A>G c.271A>G n.2395A>G c.2300A>G (p.Asp767Gly) | |
12 | g.51751490A>T | CA384880002 | SCN8A | c.2267A>T (p.Asp756Val) c.114A>T c.271A>T n.2395A>T c.2300A>T (p.Asp767Val) | |
12 | g.51751491T>A | CA384880003 | SCN8A | c.2268T>A (p.Asp756Glu) c.115T>A c.272T>A n.2396T>A c.2301T>A (p.Asp767Glu) | |
12 | g.51751491T>C | CA480061122 | SCN8A | c.2268T>C (p.Asp756=) c.115T>C c.272T>C n.2396T>C c.2301T>C (p.Asp767=) | gnomAD v3 gnomAD v4 |
12 | g.51751491T>G | CA384880004 | SCN8A | c.2268T>G (p.Asp756Glu) c.115T>G c.272T>G n.2396T>G c.2301T>G (p.Asp767Glu) | |
12 | g.51751492T>A | CA384880005 | SCN8A | c.2269T>A (p.Leu757Ile) c.116T>A c.273T>A n.2397T>A c.2302T>A (p.Leu768Ile) | |
12 | g.51751492T>C | CA480061123 | SCN8A | c.2269T>C (p.Leu757=) c.116T>C c.273T>C n.2397T>C c.2302T>C (p.Leu768=) | |
12 | g.51751492T>G | CA384880006 | SCN8A | c.2269T>G (p.Leu757Val) c.116T>G c.273T>G n.2397T>G c.2302T>G (p.Leu768Val) | |
12 | g.51751493T>A | CA384880007 | SCN8A | c.2270T>A (p.Leu757Ter) c.117T>A c.274T>A n.2398T>A c.2303T>A (p.Leu768Ter) | |
12 | g.51751493T>C | CA384880008 | SCN8A | c.2270T>C (p.Leu757Ser) c.117T>C c.274T>C n.2398T>C c.2303T>C (p.Leu768Ser) | |
12 | g.51751493T>G | CA384880009 | SCN8A | c.2270T>G (p.Leu757Ter) c.117T>G c.274T>G n.2398T>G c.2303T>G (p.Leu768Ter) | |
12 | g.51751494A>C | CA384880011 | SCN8A | c.2271A>C (p.Leu757Phe) c.118A>C c.275A>C n.2399A>C c.2304A>C (p.Leu768Phe) | |
12 | g.51751494A>G | CA480061126 | SCN8A | c.2271A>G (p.Leu757=) c.118A>G c.275A>G n.2399A>G c.2304A>G (p.Leu768=) | gnomAD v3 gnomAD v4 |
12 | g.51751494A>T | CA384880010 | SCN8A | c.2271A>T (p.Leu757Phe) c.118A>T c.275A>T n.2399A>T c.2304A>T (p.Leu768Phe) | |
12 | g.51751495G>A | CA384880012 | SCN8A | c.2272G>A (p.Ala758Thr) c.119G>A c.276G>A n.2400G>A c.2305G>A (p.Ala769Thr) | |
12 | g.51751495G>C | CA384880013 | SCN8A | c.2272G>C (p.Ala758Pro) c.119G>C c.276G>C n.2400G>C c.2305G>C (p.Ala769Pro) | |
12 | g.51751495G>T | CA384880014 | SCN8A | c.2272G>T (p.Ala758Ser) c.119G>T c.276G>T n.2400G>T c.2305G>T (p.Ala769Ser) | gnomAD v4 |
12 | g.51751496C>A | CA384880015 | SCN8A | c.2273C>A (p.Ala758Asp) c.120C>A c.277C>A n.2401C>A c.2306C>A (p.Ala769Asp) | |
12 | g.51751496C>G | CA384880016 | SCN8A | c.2273C>G (p.Ala758Gly) c.120C>G c.277C>G n.2401C>G c.2306C>G (p.Ala769Gly) | |
12 | g.51751496C>T | CA384880017 | SCN8A | c.2273C>T (p.Ala758Val) c.120C>T c.277C>T n.2401C>T c.2306C>T (p.Ala769Val) | COSMIC COSMIC |
12 | g.51751497C>A | CA480061127 | SCN8A | c.2274C>A (p.Ala758=) c.121C>A c.278C>A n.2402C>A c.2307C>A (p.Ala769=) | |
12 | g.51751497C= | CA2036196271 | SCN8A | c.2274C= (p.Ala758=) c.121C= c.278C= n.2402C= c.2307C= (p.Ala769=) | |
12 | g.51751497C>G | CA480061128 | SCN8A | c.2274C>G (p.Ala758=) c.121C>G c.278C>G n.2402C>G c.2307C>G (p.Ala769=) | |
12 | g.51751497C>T | CA480061129 | SCN8A | c.2274C>T (p.Ala758=) c.121C>T c.278C>T n.2402C>T c.2307C>T (p.Ala769=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51751498A= | CA2036196273 | SCN8A | c.2275A= (p.Ile759=) c.122A= c.279A= n.2403A= c.2308A= (p.Ile770=) | |
12 | g.51751498A>C | CA384880018 | SCN8A | c.2275A>C (p.Ile759Leu) c.122A>C c.279A>C n.2403A>C c.2308A>C (p.Ile770Leu) | |
12 | g.51751498A>G | CA384880019 | SCN8A | c.2275A>G (p.Ile759Val) c.122A>G c.279A>G n.2403A>G c.2308A>G (p.Ile770Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51751498A>T | CA384880020 | SCN8A | c.2275A>T (p.Ile759Phe) c.122A>T c.279A>T n.2403A>T c.2308A>T (p.Ile770Phe) | |
12 | g.51751499T>A | CA384880021 | SCN8A | c.2276T>A (p.Ile759Asn) c.123T>A c.280T>A n.2404T>A c.2309T>A (p.Ile770Asn) | |
12 | g.51751499T>C | CA384880022 | SCN8A | c.2276T>C (p.Ile759Thr) c.123T>C c.280T>C n.2404T>C c.2309T>C (p.Ile770Thr) | |
12 | g.51751499T>G | CA384880023 | SCN8A | c.2276T>G (p.Ile759Ser) c.123T>G c.280T>G n.2404T>G c.2309T>G (p.Ile770Ser) | |
12 | g.51751500C>A | CA480061131 | SCN8A | c.2277C>A (p.Ile759=) c.124C>A c.281C>A n.2405C>A c.2310C>A (p.Ile770=) | |
12 | g.51751500C>G | CA384880024 | SCN8A | c.2277C>G (p.Ile759Met) c.124C>G c.281C>G n.2405C>G c.2310C>G (p.Ile770Met) | |
12 | g.51751500C>T | CA480061132 | SCN8A | c.2277C>T (p.Ile759=) c.124C>T c.281C>T n.2405C>T c.2310C>T (p.Ile770=) | |
12 | g.51751501A>C | CA384880025 | SCN8A | c.2278A>C (p.Thr760Pro) c.125A>C c.282A>C n.2406A>C c.2311A>C (p.Thr771Pro) | |
12 | g.51751501A>G | CA384880027 | SCN8A | c.2278A>G (p.Thr760Ala) c.125A>G c.282A>G n.2406A>G c.2311A>G (p.Thr771Ala) | |
12 | g.51751501A>T | CA384880026 | SCN8A | c.2278A>T (p.Thr760Ser) c.125A>T c.282A>T n.2406A>T c.2311A>T (p.Thr771Ser) | |
12 | g.51751502C>A | CA384880028 | SCN8A | c.2279C>A (p.Thr760Asn) c.126C>A c.283C>A n.2407C>A c.2312C>A (p.Thr771Asn) | |
12 | g.51751502C>G | CA384880029 | SCN8A | c.2279C>G (p.Thr760Ser) c.126C>G c.283C>G n.2407C>G c.2312C>G (p.Thr771Ser) | |
12 | g.51751502C>T | CA384880030 | SCN8A | c.2279C>T (p.Thr760Ile) c.126C>T c.283C>T n.2407C>T c.2312C>T (p.Thr771Ile) | |
12 | g.51751503C>A | CA480061135 | SCN8A | c.2280C>A (p.Thr760=) c.127C>A c.284C>A n.2408C>A c.2313C>A (p.Thr771=) | |
12 | g.51751503C= | CA2036196276 | SCN8A | c.2280C= (p.Thr760=) c.127C= c.284C= n.2408C= c.2313C= (p.Thr771=) | |
12 | g.51751503C>G | CA480061136 | SCN8A | c.2280C>G (p.Thr760=) c.127C>G c.284C>G n.2408C>G c.2313C>G (p.Thr771=) | |
12 | g.51751503C>T | CA6571453 | SCN8A | c.2280C>T (p.Thr760=) c.127C>T c.284C>T n.2408C>T c.2313C>T (p.Thr771=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51751504A= | CA2036196279 | SCN8A | c.2281A= (p.Ile761=) c.128A= c.285A= n.2409A= c.2314A= (p.Ile772=) | |
12 | g.51751504A>C | CA384880031 | SCN8A | c.2281A>C (p.Ile761Leu) c.128A>C c.285A>C n.2409A>C c.2314A>C (p.Ile772Leu) | |
12 | g.51751504A>G | CA6571454 | SCN8A | c.2281A>G (p.Ile761Val) c.128A>G c.285A>G n.2409A>G c.2314A>G (p.Ile772Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51751504A>T | CA384880032 | SCN8A | c.2281A>T (p.Ile761Phe) c.128A>T c.285A>T n.2409A>T c.2314A>T (p.Ile772Phe) | |
12 | g.51751505T>A | CA384880033 | SCN8A | c.2282T>A (p.Ile761Asn) c.129T>A c.286T>A n.2410T>A c.2315T>A (p.Ile772Asn) | |
12 | g.51751505T>C | CA384880034 | SCN8A | c.2282T>C (p.Ile761Thr) c.129T>C c.286T>C n.2410T>C c.2315T>C (p.Ile772Thr) | |
12 | g.51751505T>G | CA384880035 | SCN8A | c.2282T>G (p.Ile761Ser) c.129T>G c.286T>G n.2410T>G c.2315T>G (p.Ile772Ser) | |
12 | g.51751506C>A | CA480061137 | SCN8A | c.2283C>A (p.Ile761=) c.130C>A c.287C>A n.2411C>A c.2316C>A (p.Ile772=) | |
12 | g.51751506C>G | CA384880036 | SCN8A | c.2283C>G (p.Ile761Met) c.130C>G c.287C>G n.2411C>G c.2316C>G (p.Ile772Met) | |
12 | g.51751506C>T | CA480061138 | SCN8A | c.2283C>T (p.Ile761=) c.130C>T c.287C>T n.2411C>T c.2316C>T (p.Ile772=) | |
12 | g.51751507T>A | CA384880039 | SCN8A | c.2284T>A (p.Cys762Ser) c.131T>A c.288T>A n.2412T>A c.2317T>A (p.Cys773Ser) | |
12 | g.51751507T>C | CA384880038 | SCN8A | c.2284T>C (p.Cys762Arg) c.131T>C c.288T>C n.2412T>C c.2317T>C (p.Cys773Arg) | |
12 | g.51751507T>G | CA384880037 | SCN8A | c.2284T>G (p.Cys762Gly) c.131T>G c.288T>G n.2412T>G c.2317T>G (p.Cys773Gly) | |
12 | g.51751508G>A | CA384880040 | SCN8A | c.2285G>A (p.Cys762Tyr) c.132G>A c.289G>A n.2413G>A c.2318G>A (p.Cys773Tyr) | |
12 | g.51751508G>C | CA384880041 | SCN8A | c.2285G>C (p.Cys762Ser) c.132G>C c.289G>C n.2413G>C c.2318G>C (p.Cys773Ser) | |
12 | g.51751508G>T | CA384880042 | SCN8A | c.2285G>T (p.Cys762Phe) c.132G>T c.289G>T n.2413G>T c.2318G>T (p.Cys773Phe) | |
12 | g.51751509C>A | CA384880043 | SCN8A | c.2286C>A (p.Cys762Ter) c.133C>A c.290C>A n.2414C>A c.2319C>A (p.Cys773Ter) | dbSNP |
12 | g.51751509C= | CA2036196280 | SCN8A | c.2286C= (p.Cys762=) c.133C= c.290C= n.2414C= c.2319C= (p.Cys773=) | |
12 | g.51751509C>G | CA384880044 | SCN8A | c.2286C>G (p.Cys762Trp) c.133C>G c.290C>G n.2414C>G c.2319C>G (p.Cys773Trp) | |
12 | g.51751509C>T | CA480061141 | SCN8A | c.2286C>T (p.Cys762=) c.133C>T c.290C>T n.2414C>T c.2319C>T (p.Cys773=) | gnomAD v4 |
12 | g.51751510A= | CA2036196286 | SCN8A | c.2287A= (p.Ile763=) c.134A= c.291A= n.2415A= c.2320A= (p.Ile774=) | |
12 | g.51751510A>C | CA384880045 | SCN8A | c.2287A>C (p.Ile763Leu) c.134A>C c.291A>C n.2415A>C c.2320A>C (p.Ile774Leu) | |
12 | g.51751510A>G | CA240328 | SCN8A | c.2287A>G (p.Ile763Val) c.134A>G c.291A>G n.2415A>G c.2320A>G (p.Ile774Val) | ClinVar dbSNP |
12 | g.51751510A>T | CA384880046 | SCN8A | c.2287A>T (p.Ile763Phe) c.134A>T c.291A>T n.2415A>T c.2320A>T (p.Ile774Phe) | |
12 | g.51751511T>A | CA384880047 | SCN8A | c.2288T>A (p.Ile763Asn) c.135T>A c.292T>A n.2416T>A c.2321T>A (p.Ile774Asn) | |
12 | g.51751511T>C | CA384880048 | SCN8A | c.2288T>C (p.Ile763Thr) c.135T>C c.292T>C n.2416T>C c.2321T>C (p.Ile774Thr) | |
12 | g.51751511T>G | CA384880049 | SCN8A | c.2288T>G (p.Ile763Ser) c.135T>G c.292T>G n.2416T>G c.2321T>G (p.Ile774Ser) | |
12 | g.51751512C>A | CA480061145 | SCN8A | c.2289C>A (p.Ile763=) c.136C>A c.293C>A n.2417C>A c.2322C>A (p.Ile774=) | |
12 | g.51751512C= | CA2036196293 | SCN8A | c.2289C= (p.Ile763=) c.136C= c.293C= n.2417C= c.2322C= (p.Ile774=) | |
12 | g.51751512C>G | CA384880050 | SCN8A | c.2289C>G (p.Ile763Met) c.136C>G c.293C>G n.2417C>G c.2322C>G (p.Ile774Met) | COSMIC COSMIC |
12 | g.51751512C>T | CA480061146 | SCN8A | c.2289C>T (p.Ile763=) c.136C>T c.293C>T n.2417C>T c.2322C>T (p.Ile774=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.51751513G>A | CA384880052 | SCN8A | c.2290G>A (p.Val764Ile) c.137G>A c.294G>A n.2418G>A c.2323G>A (p.Val775Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
12 | g.51751513G>C | CA384880053 | SCN8A | c.2290G>C (p.Val764Leu) c.137G>C c.294G>C n.2418G>C c.2323G>C (p.Val775Leu) | |
12 | g.51751513G= | CA2036196297 | SCN8A | c.2290G= (p.Val764=) c.137G= c.294G= n.2418G= c.2323G= (p.Val775=) | |
12 | g.51751513G>T | CA384880051 | SCN8A | c.2290G>T (p.Val764Phe) c.137G>T c.294G>T n.2418G>T c.2323G>T (p.Val775Phe) | |
12 | g.51751514T>A | CA384880056 | SCN8A | c.2291T>A (p.Val764Asp) c.138T>A c.295T>A n.2419T>A c.2324T>A (p.Val775Asp) | |
12 | g.51751514T>C | CA384880054 | SCN8A | c.2291T>C (p.Val764Ala) c.138T>C c.295T>C n.2419T>C c.2324T>C (p.Val775Ala) | ClinVar |
12 | g.51751514T>G | CA384880055 | SCN8A | c.2291T>G (p.Val764Gly) c.138T>G c.295T>G n.2419T>G c.2324T>G (p.Val775Gly) | |
12 | g.51751515C>A | CA480061148 | SCN8A | c.2292C>A (p.Val764=) c.139C>A c.296C>A n.2420C>A c.2325C>A (p.Val775=) | |
12 | g.51751515C= | CA2036196302 | SCN8A | c.2292C= (p.Val764=) c.139C= c.296C= n.2420C= c.2325C= (p.Val775=) | |
12 | g.51751515C>G | CA480061149 | SCN8A | c.2292C>G (p.Val764=) c.139C>G c.296C>G n.2420C>G c.2325C>G (p.Val775=) | |
12 | g.51751515C>T | CA6571455 | SCN8A | c.2292C>T (p.Val764=) c.139C>T c.296C>T n.2420C>T c.2325C>T (p.Val775=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.51751516C>A | CA384880057 | SCN8A | c.2293C>A (p.Leu765Met) c.140C>A c.297C>A n.2421C>A c.2326C>A (p.Leu776Met) | |
12 | g.51751516C>G | CA384880058 | SCN8A | c.2293C>G (p.Leu765Val) c.140C>G c.297C>G n.2421C>G c.2326C>G (p.Leu776Val) | |
12 | g.51751516C>T | CA480061150 | SCN8A | c.2293C>T (p.Leu765=) c.140C>T c.297C>T n.2421C>T c.2326C>T (p.Leu776=) | |
12 | g.51751517T>A | CA384880059 | SCN8A | c.2294T>A (p.Leu765Gln) c.141T>A c.298T>A n.2422T>A c.2327T>A (p.Leu776Gln) | gnomAD v4 |
12 | g.51751517T>C | CA384880060 | SCN8A | c.2294T>C (p.Leu765Pro) c.141T>C c.298T>C n.2422T>C c.2327T>C (p.Leu776Pro) | |
12 | g.51751517T>G | CA384880061 | SCN8A | c.2294T>G (p.Leu765Arg) c.141T>G c.298T>G n.2422T>G c.2327T>G (p.Leu776Arg) | |
12 | g.51751518G>A | CA480061154 | SCN8A | c.2295G>A (p.Leu765=) c.142G>A c.299G>A n.2423G>A c.2328G>A (p.Leu776=) | |
12 | g.51751518G>C | CA480061155 | SCN8A | c.2295G>C (p.Leu765=) c.142G>C c.299G>C n.2423G>C c.2328G>C (p.Leu776=) | |
12 | g.51751518G>T | CA480061156 | SCN8A | c.2295G>T (p.Leu765=) c.142G>T c.299G>T n.2423G>T c.2328G>T (p.Leu776=) | |
12 | g.51751519A>C | CA384880062 | SCN8A | c.2296A>C (p.Asn766His) c.143A>C c.300A>C n.2424A>C c.2329A>C (p.Asn777His) | |
12 | g.51751519A>G | CA384880063 | SCN8A | c.2296A>G (p.Asn766Asp) c.143A>G c.300A>G n.2424A>G c.2329A>G (p.Asn777Asp) | |
12 | g.51751519A>T | CA384880064 | SCN8A | c.2296A>T (p.Asn766Tyr) c.143A>T c.300A>T n.2424A>T c.2329A>T (p.Asn777Tyr) | |
12 | g.51751520A>C | CA384880065 | SCN8A | c.2297A>C (p.Asn766Thr) c.144A>C c.301A>C n.2425A>C c.2330A>C (p.Asn777Thr) | |
12 | g.51751520A>G | CA384880066 | SCN8A | c.2297A>G (p.Asn766Ser) c.144A>G c.301A>G n.2425A>G c.2330A>G (p.Asn777Ser) | |
12 | g.51751520A>T | CA384880067 | SCN8A | c.2297A>T (p.Asn766Ile) c.144A>T c.301A>T n.2425A>T c.2330A>T (p.Asn777Ile) | |
12 | g.51751521T>A | CA384880069 | SCN8A | c.2298T>A (p.Asn766Lys) c.145T>A c.302T>A n.2426T>A c.2331T>A (p.Asn777Lys) | |
12 | g.51751521T>C | CA480061158 | SCN8A | c.2298T>C (p.Asn766=) c.145T>C c.302T>C n.2426T>C c.2331T>C (p.Asn777=) | |
12 | g.51751521T>G | CA384880068 | SCN8A | c.2298T>G (p.Asn766Lys) c.145T>G c.302T>G n.2426T>G c.2331T>G (p.Asn777Lys) | |
12 | g.51751522A>C | CA384880070 | SCN8A | c.2299A>C (p.Thr767Pro) c.146A>C c.303A>C n.2427A>C c.2332A>C (p.Thr778Pro) | |
12 | g.51751522A>G | CA384880071 | SCN8A | c.2299A>G (p.Thr767Ala) c.146A>G c.303A>G n.2427A>G c.2332A>G (p.Thr778Ala) | |
12 | g.51751522A>T | CA384880072 | SCN8A | c.2299A>T (p.Thr767Ser) c.146A>T c.303A>T n.2427A>T c.2332A>T (p.Thr778Ser) | |
12 | g.51751523C>A | CA384880073 | SCN8A | c.2300C>A (p.Thr767Lys) c.147C>A c.304C>A n.2428C>A c.2333C>A (p.Thr778Lys) | |
12 | g.51751523C= | CA2036196305 | SCN8A | c.2300C= (p.Thr767=) c.147C= c.304C= n.2428C= c.2333C= (p.Thr778=) | |
12 | g.51751523C>G | CA384880074 | SCN8A | c.2300C>G (p.Thr767Arg) c.147C>G c.304C>G n.2428C>G c.2333C>G (p.Thr778Arg) | |
12 | g.51751523C>T | CA204472 | SCN8A | c.2300C>T (p.Thr767Ile) c.147C>T c.304C>T n.2428C>T c.2333C>T (p.Thr778Ile) | ClinVar dbSNP |
12 | g.51751524A= | CA2036196311 | SCN8A | c.2301A= (p.Thr767=) c.148A= c.305A= n.2429A= c.2334A= (p.Thr778=) | |
12 | g.51751524A>C | CA480061160 | SCN8A | c.2301A>C (p.Thr767=) c.148A>C c.305A>C n.2429A>C c.2334A>C (p.Thr778=) | ClinVar dbSNP |
12 | g.51751524A>G | CA480061161 | SCN8A | c.2301A>G (p.Thr767=) c.148A>G c.305A>G n.2429A>G c.2334A>G (p.Thr778=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.51751524A>T | CA480061162 | SCN8A | c.2301A>T (p.Thr767=) c.148A>T c.305A>T n.2429A>T c.2334A>T (p.Thr778=) | |
12 | g.51751525C>A | CA384880076 | SCN8A | c.2302C>A (p.Leu768Met) c.149C>A c.306C>A n.2430C>A c.2335C>A (p.Leu779Met) | |
12 | g.51751525C= | CA2036196313 | SCN8A | c.2302C= (p.Leu768=) c.149C= c.306C= n.2430C= c.2335C= (p.Leu779=) | |
12 | g.51751525C>G | CA384880075 | SCN8A | c.2302C>G (p.Leu768Val) c.149C>G c.306C>G n.2430C>G c.2335C>G (p.Leu779Val) | |
12 | g.51751525C>T | CA480061163 | SCN8A | c.2302C>T (p.Leu768=) c.149C>T c.306C>T n.2430C>T c.2335C>T (p.Leu779=) | ClinVar dbSNP gnomAD v4 |
12 | g.51751526T>A | CA384880077 | SCN8A | c.2303T>A (p.Leu768Gln) c.150T>A c.307T>A n.2431T>A c.2336T>A (p.Leu779Gln) | |
12 | g.51751526T>C | CA384880078 | SCN8A | c.2303T>C (p.Leu768Pro) c.150T>C c.307T>C n.2431T>C c.2336T>C (p.Leu779Pro) | |
12 | g.51751526T>G | CA384880079 | SCN8A | c.2303T>G (p.Leu768Arg) c.150T>G c.307T>G n.2431T>G c.2336T>G (p.Leu779Arg) |