Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.166277200T>A | CA349077868 | SCN1A-AS1,SCN9A | c.2657A>T (p.Gln886Leu) c.2624A>T (p.Gln875Leu) c.314A>T (p.Gln105Leu) c.1659A>T n.982T>A c.2270A>T (p.Gln757Leu) c.1913A>T (p.Gln638Leu) n.2971A>T | |
2 | g.166277200T>C | CA349077867 | SCN1A-AS1,SCN9A | c.2657A>G (p.Gln886Arg) c.2624A>G (p.Gln875Arg) c.314A>G (p.Gln105Arg) c.1659A>G n.982T>C c.2270A>G (p.Gln757Arg) c.1913A>G (p.Gln638Arg) n.2971A>G | |
2 | g.166277200T>G | CA349077866 | SCN1A-AS1,SCN9A | c.2657A>C (p.Gln886Pro) c.2624A>C (p.Gln875Pro) c.314A>C (p.Gln105Pro) c.1659A>C n.982T>G c.2270A>C (p.Gln757Pro) c.1913A>C (p.Gln638Pro) n.2971A>C | |
2 | g.166277201G>A | CA349077869 | SCN1A-AS1,SCN9A | c.2656C>T (p.Gln886Ter) c.2623C>T (p.Gln875Ter) c.313C>T (p.Gln105Ter) c.1658C>T n.983G>A c.2269C>T (p.Gln757Ter) c.1912C>T (p.Gln638Ter) n.2970C>T | |
2 | g.166277201G>C | CA349077870 | SCN1A-AS1,SCN9A | c.2656C>G (p.Gln886Glu) c.2623C>G (p.Gln875Glu) c.313C>G (p.Gln105Glu) c.1658C>G n.983G>C c.2269C>G (p.Gln757Glu) c.1912C>G (p.Gln638Glu) n.2970C>G | ClinVar |
2 | g.166277201G>T | CA349077871 | SCN1A-AS1,SCN9A | c.2656C>A (p.Gln886Lys) c.2623C>A (p.Gln875Lys) c.313C>A (p.Gln105Lys) c.1658C>A n.983G>T c.2269C>A (p.Gln757Lys) c.1912C>A (p.Gln638Lys) n.2970C>A | gnomAD v4 |
2 | g.166277202C>A | CA349077872 | SCN1A-AS1,SCN9A | c.2655G>T (p.Met885Ile) c.2622G>T (p.Met874Ile) c.312G>T (p.Met104Ile) c.1657G>T n.984C>A c.2268G>T (p.Met756Ile) c.1911G>T (p.Met637Ile) n.2969G>T | |
2 | g.166277202C= | CA1304965138 | SCN1A-AS1,SCN9A | c.2655G= (p.Met885=) c.2622G= (p.Met874=) c.312G= (p.Met104=) c.1657G= n.984C= c.2268G= (p.Met756=) c.1911G= (p.Met637=) n.2969G= | |
2 | g.166277202C>G | CA349077873 | SCN1A-AS1,SCN9A | c.2655G>C (p.Met885Ile) c.2622G>C (p.Met874Ile) c.312G>C (p.Met104Ile) c.1657G>C n.984C>G c.2268G>C (p.Met756Ile) c.1911G>C (p.Met637Ile) n.2969G>C | |
2 | g.166277202C>T | CA349077874 | SCN1A-AS1,SCN9A | c.2655G>A (p.Met885Ile) c.2622G>A (p.Met874Ile) c.312G>A (p.Met104Ile) c.1657G>A n.984C>T c.2268G>A (p.Met756Ile) c.1911G>A (p.Met637Ile) n.2969G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277203A= | CA1304965149 | SCN1A-AS1,SCN9A | c.2654T= (p.Met885=) c.2621T= (p.Met874=) c.311T= (p.Met104=) c.1656T= n.985A= c.2267T= (p.Met756=) c.1910T= (p.Met637=) n.2968T= | |
2 | g.166277203A>C | CA349077875 | SCN1A-AS1,SCN9A | c.2654T>G (p.Met885Arg) c.2621T>G (p.Met874Arg) c.311T>G (p.Met104Arg) c.1656T>G n.985A>C c.2267T>G (p.Met756Arg) c.1910T>G (p.Met637Arg) n.2968T>G | |
2 | g.166277203A>G | CA349077876 | SCN1A-AS1,SCN9A | c.2654T>C (p.Met885Thr) c.2621T>C (p.Met874Thr) c.311T>C (p.Met104Thr) c.1656T>C n.985A>G c.2267T>C (p.Met756Thr) c.1910T>C (p.Met637Thr) n.2968T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277203A>T | CA349077877 | SCN1A-AS1,SCN9A | c.2654T>A (p.Met885Lys) c.2621T>A (p.Met874Lys) c.311T>A (p.Met104Lys) c.1656T>A n.985A>T c.2267T>A (p.Met756Lys) c.1910T>A (p.Met637Lys) n.2968T>A | |
2 | g.166277204T>A | CA349077878 | SCN1A-AS1,SCN9A | c.2653A>T (p.Met885Leu) c.2620A>T (p.Met874Leu) c.310A>T (p.Met104Leu) c.1655A>T n.986T>A c.2266A>T (p.Met756Leu) c.1909A>T (p.Met637Leu) n.2967A>T | |
2 | g.166277204T>C | CA349077879 | SCN1A-AS1,SCN9A | c.2653A>G (p.Met885Val) c.2620A>G (p.Met874Val) c.310A>G (p.Met104Val) c.1655A>G n.986T>C c.2266A>G (p.Met756Val) c.1909A>G (p.Met637Val) n.2967A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277204T>G | CA349077880 | SCN1A-AS1,SCN9A | c.2653A>C (p.Met885Leu) c.2620A>C (p.Met874Leu) c.310A>C (p.Met104Leu) c.1655A>C n.986T>G c.2266A>C (p.Met756Leu) c.1909A>C (p.Met637Leu) n.2967A>C | |
2 | g.166277204T= | CA1304965153 | SCN1A-AS1,SCN9A | c.2653A= (p.Met885=) c.2620A= (p.Met874=) c.310A= (p.Met104=) c.1655A= n.986T= c.2266A= (p.Met756=) c.1909A= (p.Met637=) n.2967A= | |
2 | g.166277205G>A | CA1944222 | SCN1A-AS1,SCN9A | c.2652C>T (p.Gly884=) c.2619C>T (p.Gly873=) c.309C>T (p.Gly103=) c.1654C>T n.987G>A c.2265C>T (p.Gly755=) c.1908C>T (p.Gly636=) n.2966C>T | ClinVar dbSNP ExAC gnomAD v2 |
2 | g.166277205G>C | CA429978368 | SCN1A-AS1,SCN9A | c.2652C>G (p.Gly884=) c.2619C>G (p.Gly873=) c.309C>G (p.Gly103=) c.1654C>G n.987G>C c.2265C>G (p.Gly755=) c.1908C>G (p.Gly636=) n.2966C>G | |
2 | g.166277205G= | CA1304965159 | SCN1A-AS1,SCN9A | c.2652C= (p.Gly884=) c.2619C= (p.Gly873=) c.309C= (p.Gly103=) c.1654C= n.987G= c.2265C= (p.Gly755=) c.1908C= (p.Gly636=) n.2966C= | |
2 | g.166277205G>T | CA429978366 | SCN1A-AS1,SCN9A | c.2652C>A (p.Gly884=) c.2619C>A (p.Gly873=) c.309C>A (p.Gly103=) c.1654C>A n.987G>T c.2265C>A (p.Gly755=) c.1908C>A (p.Gly636=) n.2966C>A | |
2 | g.166277206C>A | CA349077882 | SCN1A-AS1,SCN9A | c.2651G>T (p.Gly884Val) c.2618G>T (p.Gly873Val) c.308G>T (p.Gly103Val) c.1653G>T n.988C>A c.2264G>T (p.Gly755Val) c.1907G>T (p.Gly636Val) n.2965G>T | |
2 | g.166277206C>G | CA349077883 | SCN1A-AS1,SCN9A | c.2651G>C (p.Gly884Ala) c.2618G>C (p.Gly873Ala) c.308G>C (p.Gly103Ala) c.1653G>C n.988C>G c.2264G>C (p.Gly755Ala) c.1907G>C (p.Gly636Ala) n.2965G>C | |
2 | g.166277206C>T | CA349077881 | SCN1A-AS1,SCN9A | c.2651G>A (p.Gly884Asp) c.2618G>A (p.Gly873Asp) c.308G>A (p.Gly103Asp) c.1653G>A n.988C>T c.2264G>A (p.Gly755Asp) c.1907G>A (p.Gly636Asp) n.2965G>A | COSMIC COSMIC |
2 | g.166277207C>A | CA349077885 | SCN1A-AS1,SCN9A | c.2650G>T (p.Gly884Cys) c.2617G>T (p.Gly873Cys) c.307G>T (p.Gly103Cys) c.1652G>T n.989C>A c.2263G>T (p.Gly755Cys) c.1906G>T (p.Gly636Cys) n.2964G>T | |
2 | g.166277207C= | CA1304965171 | SCN1A-AS1,SCN9A | c.2650G= (p.Gly884=) c.2617G= (p.Gly873=) c.307G= (p.Gly103=) c.1652G= n.989C= c.2263G= (p.Gly755=) c.1906G= (p.Gly636=) n.2964G= | |
2 | g.166277207C>G | CA349077884 | SCN1A-AS1,SCN9A | c.2650G>C (p.Gly884Arg) c.2617G>C (p.Gly873Arg) c.307G>C (p.Gly103Arg) c.1652G>C n.989C>G c.2263G>C (p.Gly755Arg) c.1906G>C (p.Gly636Arg) n.2964G>C | |
2 | g.166277207C>T | CA1944223 | SCN1A-AS1,SCN9A | c.2650G>A (p.Gly884Ser) c.2617G>A (p.Gly873Ser) c.307G>A (p.Gly103Ser) c.1652G>A n.989C>T c.2263G>A (p.Gly755Ser) c.1906G>A (p.Gly636Ser) n.2964G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.166277208G>A | CA1944225 | SCN1A-AS1,SCN9A | c.2649C>T (p.Val883=) c.2616C>T (p.Val872=) c.306C>T (p.Val102=) c.1651C>T n.990G>A c.2262C>T (p.Val754=) c.1905C>T (p.Val635=) n.2963C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166277208G>C | CA1944224 | SCN1A-AS1,SCN9A | c.2649C>G (p.Val883=) c.2616C>G (p.Val872=) c.306C>G (p.Val102=) c.1651C>G n.990G>C c.2262C>G (p.Val754=) c.1905C>G (p.Val635=) n.2963C>G | dbSNP ExAC gnomAD v2 |
2 | g.166277208G= | CA1304965186 | SCN1A-AS1,SCN9A | c.2649C= (p.Val883=) c.2616C= (p.Val872=) c.306C= (p.Val102=) c.1651C= n.990G= c.2262C= (p.Val754=) c.1905C= (p.Val635=) n.2963C= | |
2 | g.166277208G>T | CA429978371 | SCN1A-AS1,SCN9A | c.2649C>A (p.Val883=) c.2616C>A (p.Val872=) c.306C>A (p.Val102=) c.1651C>A n.990G>T c.2262C>A (p.Val754=) c.1905C>A (p.Val635=) n.2963C>A | |
2 | g.166277209A= | CA1304965208 | SCN1A-AS1,SCN9A | c.2648T= (p.Val883=) c.2615T= (p.Val872=) c.305T= (p.Val102=) c.1650T= n.991A= c.2261T= (p.Val754=) c.1904T= (p.Val635=) n.2962T= | |
2 | g.166277209A>C | CA349077886 | SCN1A-AS1,SCN9A | c.2648T>G (p.Val883Gly) c.2615T>G (p.Val872Gly) c.305T>G (p.Val102Gly) c.1650T>G n.991A>C c.2261T>G (p.Val754Gly) c.1904T>G (p.Val635Gly) n.2962T>G | |
2 | g.166277209A>G | CA349077887 | SCN1A-AS1,SCN9A | c.2648T>C (p.Val883Ala) c.2615T>C (p.Val872Ala) c.305T>C (p.Val102Ala) c.1650T>C n.991A>G c.2261T>C (p.Val754Ala) c.1904T>C (p.Val635Ala) n.2962T>C | |
2 | g.166277209A>T | CA349077888 | SCN1A-AS1,SCN9A | c.2648T>A (p.Val883Asp) c.2615T>A (p.Val872Asp) c.305T>A (p.Val102Asp) c.1650T>A n.991A>T c.2261T>A (p.Val754Asp) c.1904T>A (p.Val635Asp) n.2962T>A | dbSNP gnomAD v4 |
2 | g.166277210C>A | CA1944226 | SCN1A-AS1,SCN9A | c.2647G>T (p.Val883Phe) c.2614G>T (p.Val872Phe) c.304G>T (p.Val102Phe) c.1649G>T n.992C>A c.2260G>T (p.Val754Phe) c.1903G>T (p.Val635Phe) n.2961G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277210C= | CA1304965212 | SCN1A-AS1,SCN9A | c.2647G= (p.Val883=) c.2614G= (p.Val872=) c.304G= (p.Val102=) c.1649G= n.992C= c.2260G= (p.Val754=) c.1903G= (p.Val635=) n.2961G= | |
2 | g.166277210C>G | CA349077889 | SCN1A-AS1,SCN9A | c.2647G>C (p.Val883Leu) c.2614G>C (p.Val872Leu) c.304G>C (p.Val102Leu) c.1649G>C n.992C>G c.2260G>C (p.Val754Leu) c.1903G>C (p.Val635Leu) n.2961G>C | gnomAD v4 |
2 | g.166277210C>T | CA349077890 | SCN1A-AS1,SCN9A | c.2647G>A (p.Val883Ile) c.2614G>A (p.Val872Ile) c.304G>A (p.Val102Ile) c.1649G>A n.992C>T c.2260G>A (p.Val754Ile) c.1903G>A (p.Val635Ile) n.2961G>A | ClinVar dbSNP gnomAD v4 |
2 | g.166277211C>A | CA429978376 | SCN1A-AS1,SCN9A | c.2646G>T (p.Val882=) c.2613G>T (p.Val871=) c.303G>T (p.Val101=) c.1648G>T n.993C>A c.2259G>T (p.Val753=) c.1902G>T (p.Val634=) n.2960G>T | |
2 | g.166277211C>G | CA429978378 | SCN1A-AS1,SCN9A | c.2646G>C (p.Val882=) c.2613G>C (p.Val871=) c.303G>C (p.Val101=) c.1648G>C n.993C>G c.2259G>C (p.Val753=) c.1902G>C (p.Val634=) n.2960G>C | |
2 | g.166277211C>T | CA429978377 | SCN1A-AS1,SCN9A | c.2646G>A (p.Val882=) c.2613G>A (p.Val871=) c.303G>A (p.Val101=) c.1648G>A n.993C>T c.2259G>A (p.Val753=) c.1902G>A (p.Val634=) n.2960G>A | |
2 | g.166277212A>C | CA349077891 | SCN1A-AS1,SCN9A | c.2645T>G (p.Val882Gly) c.2612T>G (p.Val871Gly) c.302T>G (p.Val101Gly) c.1647T>G n.994A>C c.2258T>G (p.Val753Gly) c.1901T>G (p.Val634Gly) n.2959T>G | |
2 | g.166277212A>G | CA349077892 | SCN1A-AS1,SCN9A | c.2645T>C (p.Val882Ala) c.2612T>C (p.Val871Ala) c.302T>C (p.Val101Ala) c.1647T>C n.994A>G c.2258T>C (p.Val753Ala) c.1901T>C (p.Val634Ala) n.2959T>C | dbSNP |
2 | g.166277212A>T | CA349077893 | SCN1A-AS1,SCN9A | c.2645T>A (p.Val882Glu) c.2612T>A (p.Val871Glu) c.302T>A (p.Val101Glu) c.1647T>A n.994A>T c.2258T>A (p.Val753Glu) c.1901T>A (p.Val634Glu) n.2959T>A | |
2 | g.166277213C>A | CA349077895 | SCN1A-AS1,SCN9A | c.2644G>T (p.Val882Leu) c.2611G>T (p.Val871Leu) c.301G>T (p.Val101Leu) c.1646G>T n.995C>A c.2257G>T (p.Val753Leu) c.1900G>T (p.Val634Leu) n.2958G>T | |
2 | g.166277213C= | CA1304965217 | SCN1A-AS1,SCN9A | c.2644G= (p.Val882=) c.2611G= (p.Val871=) c.301G= (p.Val101=) c.1646G= n.995C= c.2257G= (p.Val753=) c.1900G= (p.Val634=) n.2958G= | |
2 | g.166277213C>G | CA349077896 | SCN1A-AS1,SCN9A | c.2644G>C (p.Val882Leu) c.2611G>C (p.Val871Leu) c.301G>C (p.Val101Leu) c.1646G>C n.995C>G c.2257G>C (p.Val753Leu) c.1900G>C (p.Val634Leu) n.2958G>C | ClinVar dbSNP |
2 | g.166277213C>T | CA349077894 | SCN1A-AS1,SCN9A | c.2644G>A (p.Val882Met) c.2611G>A (p.Val871Met) c.301G>A (p.Val101Met) c.1646G>A n.995C>T c.2257G>A (p.Val753Met) c.1900G>A (p.Val634Met) n.2958G>A | gnomAD v4 |
2 | g.166277214A>C | CA429978379 | SCN1A-AS1,SCN9A | c.2643T>G (p.Ala881=) c.2610T>G (p.Ala870=) c.300T>G (p.Ala100=) c.1645T>G n.996A>C c.2256T>G (p.Ala752=) c.1899T>G (p.Ala633=) n.2957T>G | |
2 | g.166277214A>G | CA429978380 | SCN1A-AS1,SCN9A | c.2643T>C (p.Ala881=) c.2610T>C (p.Ala870=) c.300T>C (p.Ala100=) c.1645T>C n.996A>G c.2256T>C (p.Ala752=) c.1899T>C (p.Ala633=) n.2957T>C | gnomAD v4 |
2 | g.166277214A>T | CA429978381 | SCN1A-AS1,SCN9A | c.2643T>A (p.Ala881=) c.2610T>A (p.Ala870=) c.300T>A (p.Ala100=) c.1645T>A n.996A>T c.2256T>A (p.Ala752=) c.1899T>A (p.Ala633=) n.2957T>A | |
2 | g.166277215G>A | CA59794736 | SCN1A-AS1,SCN9A | c.2642C>T (p.Ala881Val) c.2609C>T (p.Ala870Val) c.299C>T (p.Ala100Val) c.1644C>T n.997G>A c.2255C>T (p.Ala752Val) c.1898C>T (p.Ala633Val) n.2956C>T | dbSNP |
2 | g.166277215G>C | CA349077897 | SCN1A-AS1,SCN9A | c.2642C>G (p.Ala881Gly) c.2609C>G (p.Ala870Gly) c.299C>G (p.Ala100Gly) c.1644C>G n.997G>C c.2255C>G (p.Ala752Gly) c.1898C>G (p.Ala633Gly) n.2956C>G | |
2 | g.166277215G= | CA1304965224 | SCN1A-AS1,SCN9A | c.2642C= (p.Ala881=) c.2609C= (p.Ala870=) c.299C= (p.Ala100=) c.1644C= n.997G= c.2255C= (p.Ala752=) c.1898C= (p.Ala633=) n.2956C= | |
2 | g.166277215G>T | CA349077898 | SCN1A-AS1,SCN9A | c.2642C>A (p.Ala881Asp) c.2609C>A (p.Ala870Asp) c.299C>A (p.Ala100Asp) c.1644C>A n.997G>T c.2255C>A (p.Ala752Asp) c.1898C>A (p.Ala633Asp) n.2956C>A | |
2 | g.166277216C>A | CA349077899 | SCN1A-AS1,SCN9A | c.2641G>T (p.Ala881Ser) c.2608G>T (p.Ala870Ser) c.298G>T (p.Ala100Ser) c.1643G>T n.998C>A c.2254G>T (p.Ala752Ser) c.1897G>T (p.Ala633Ser) n.2955G>T | |
2 | g.166277216C>G | CA349077900 | SCN1A-AS1,SCN9A | c.2641G>C (p.Ala881Pro) c.2608G>C (p.Ala870Pro) c.298G>C (p.Ala100Pro) c.1643G>C n.998C>G c.2254G>C (p.Ala752Pro) c.1897G>C (p.Ala633Pro) n.2955G>C | |
2 | g.166277216C>T | CA349077901 | SCN1A-AS1,SCN9A | c.2641G>A (p.Ala881Thr) c.2608G>A (p.Ala870Thr) c.298G>A (p.Ala100Thr) c.1643G>A n.998C>T c.2254G>A (p.Ala752Thr) c.1897G>A (p.Ala633Thr) n.2955G>A | |
2 | g.166277217A>C | CA349077902 | SCN1A-AS1,SCN9A | c.2640T>G (p.Phe880Leu) c.2607T>G (p.Phe869Leu) c.297T>G (p.Phe99Leu) c.1642T>G n.999A>C c.2253T>G (p.Phe751Leu) c.1896T>G (p.Phe632Leu) n.2954T>G | |
2 | g.166277217A>G | CA429978383 | SCN1A-AS1,SCN9A | c.2640T>C (p.Phe880=) c.2607T>C (p.Phe869=) c.297T>C (p.Phe99=) c.1642T>C n.999A>G c.2253T>C (p.Phe751=) c.1896T>C (p.Phe632=) n.2954T>C | |
2 | g.166277217A>T | CA349077903 | SCN1A-AS1,SCN9A | c.2640T>A (p.Phe880Leu) c.2607T>A (p.Phe869Leu) c.297T>A (p.Phe99Leu) c.1642T>A n.999A>T c.2253T>A (p.Phe751Leu) c.1896T>A (p.Phe632Leu) n.2954T>A | |
2 | g.166277221del | CA645519734 | SCN1A-AS1,SCN9A | c.2640del (p.Phe880LeufsTer?) c.2607del (p.Phe869LeufsTer?) c.297del (p.Phe99LeufsTer?) c.1642del n.1003del c.2253del (p.Phe751LeufsTer?) c.1896del (p.Phe632LeufsTer?) n.2954del | COSMIC COSMIC |
2 | g.166277218A>C | CA349077904 | SCN1A-AS1,SCN9A | c.2639T>G (p.Phe880Cys) c.2606T>G (p.Phe869Cys) c.296T>G (p.Phe99Cys) c.1641T>G n.1000A>C c.2252T>G (p.Phe751Cys) c.1895T>G (p.Phe632Cys) n.2953T>G | |
2 | g.166277218A>G | CA349077905 | SCN1A-AS1,SCN9A | c.2639T>C (p.Phe880Ser) c.2606T>C (p.Phe869Ser) c.296T>C (p.Phe99Ser) c.1641T>C n.1000A>G c.2252T>C (p.Phe751Ser) c.1895T>C (p.Phe632Ser) n.2953T>C | |
2 | g.166277218A>T | CA349077906 | SCN1A-AS1,SCN9A | c.2639T>A (p.Phe880Tyr) c.2606T>A (p.Phe869Tyr) c.296T>A (p.Phe99Tyr) c.1641T>A n.1000A>T c.2252T>A (p.Phe751Tyr) c.1895T>A (p.Phe632Tyr) n.2953T>A | |
2 | g.166277219A>C | CA349077907 | SCN1A-AS1,SCN9A | c.2638T>G (p.Phe880Val) c.2605T>G (p.Phe869Val) c.295T>G (p.Phe99Val) c.1640T>G n.1001A>C c.2251T>G (p.Phe751Val) c.1894T>G (p.Phe632Val) n.2952T>G | gnomAD v4 |
2 | g.166277219A>G | CA349077908 | SCN1A-AS1,SCN9A | c.2638T>C (p.Phe880Leu) c.2605T>C (p.Phe869Leu) c.295T>C (p.Phe99Leu) c.1640T>C n.1001A>G c.2251T>C (p.Phe751Leu) c.1894T>C (p.Phe632Leu) n.2952T>C | |
2 | g.166277219A>T | CA349077909 | SCN1A-AS1,SCN9A | c.2638T>A (p.Phe880Ile) c.2605T>A (p.Phe869Ile) c.295T>A (p.Phe99Ile) c.1640T>A n.1001A>T c.2251T>A (p.Phe751Ile) c.1894T>A (p.Phe632Ile) n.2952T>A | |
2 | g.166277220A>C | CA349077910 | SCN1A-AS1,SCN9A | c.2637T>G (p.Ile879Met) c.2604T>G (p.Ile868Met) c.294T>G (p.Ile98Met) c.1639T>G n.1002A>C c.2250T>G (p.Ile750Met) c.1893T>G (p.Ile631Met) n.2951T>G | |
2 | g.166277220A>G | CA429978385 | SCN1A-AS1,SCN9A | c.2637T>C (p.Ile879=) c.2604T>C (p.Ile868=) c.294T>C (p.Ile98=) c.1639T>C n.1002A>G c.2250T>C (p.Ile750=) c.1893T>C (p.Ile631=) n.2951T>C | |
2 | g.166277220A>T | CA429978387 | SCN1A-AS1,SCN9A | c.2637T>A (p.Ile879=) c.2604T>A (p.Ile868=) c.294T>A (p.Ile98=) c.1639T>A n.1002A>T c.2250T>A (p.Ile750=) c.1893T>A (p.Ile631=) n.2951T>A | |
2 | g.166277221A= | CA1304965233 | SCN1A-AS1,SCN9A | c.2636T= (p.Ile879=) c.2603T= (p.Ile868=) c.293T= (p.Ile98=) c.1638T= n.1003A= c.2249T= (p.Ile750=) c.1892T= (p.Ile631=) n.2950T= | |
2 | g.166277221A>C | CA349077911 | SCN1A-AS1,SCN9A | c.2636T>G (p.Ile879Ser) c.2603T>G (p.Ile868Ser) c.293T>G (p.Ile98Ser) c.1638T>G n.1003A>C c.2249T>G (p.Ile750Ser) c.1892T>G (p.Ile631Ser) n.2950T>G | |
2 | g.166277221A>G | CA1944227 | SCN1A-AS1,SCN9A | c.2636T>C (p.Ile879Thr) c.2603T>C (p.Ile868Thr) c.293T>C (p.Ile98Thr) c.1638T>C n.1003A>G c.2249T>C (p.Ile750Thr) c.1892T>C (p.Ile631Thr) n.2950T>C | dbSNP ExAC gnomAD v4 |
2 | g.166277221A>T | CA349077912 | SCN1A-AS1,SCN9A | c.2636T>A (p.Ile879Asn) c.2603T>A (p.Ile868Asn) c.293T>A (p.Ile98Asn) c.1638T>A n.1003A>T c.2249T>A (p.Ile750Asn) c.1892T>A (p.Ile631Asn) n.2950T>A | |
2 | g.166277222T>A | CA349077913 | SCN1A-AS1,SCN9A | c.2635A>T (p.Ile879Phe) c.2602A>T (p.Ile868Phe) c.292A>T (p.Ile98Phe) c.1637A>T n.1004T>A c.2248A>T (p.Ile750Phe) c.1891A>T (p.Ile631Phe) n.2949A>T | |
2 | g.166277222T>C | CA349077914 | SCN1A-AS1,SCN9A | c.2635A>G (p.Ile879Val) c.2602A>G (p.Ile868Val) c.292A>G (p.Ile98Val) c.1637A>G n.1004T>C c.2248A>G (p.Ile750Val) c.1891A>G (p.Ile631Val) n.2949A>G | |
2 | g.166277222T>G | CA349077915 | SCN1A-AS1,SCN9A | c.2635A>C (p.Ile879Leu) c.2602A>C (p.Ile868Leu) c.292A>C (p.Ile98Leu) c.1637A>C n.1004T>G c.2248A>C (p.Ile750Leu) c.1891A>C (p.Ile631Leu) n.2949A>C | |
2 | g.166277223G>A | CA1944228 | SCN1A-AS1,SCN9A | c.2634C>T (p.Phe878=) c.2601C>T (p.Phe867=) c.291C>T (p.Phe97=) c.1636C>T n.1005G>A c.2247C>T (p.Phe749=) c.1890C>T (p.Phe630=) n.2948C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277223G>C | CA349077916 | SCN1A-AS1,SCN9A | c.2634C>G (p.Phe878Leu) c.2601C>G (p.Phe867Leu) c.291C>G (p.Phe97Leu) c.1636C>G n.1005G>C c.2247C>G (p.Phe749Leu) c.1890C>G (p.Phe630Leu) n.2948C>G | |
2 | g.166277223G= | CA1304965241 | SCN1A-AS1,SCN9A | c.2634C= (p.Phe878=) c.2601C= (p.Phe867=) c.291C= (p.Phe97=) c.1636C= n.1005G= c.2247C= (p.Phe749=) c.1890C= (p.Phe630=) n.2948C= | |
2 | g.166277223G>T | CA349077917 | SCN1A-AS1,SCN9A | c.2634C>A (p.Phe878Leu) c.2601C>A (p.Phe867Leu) c.291C>A (p.Phe97Leu) c.1636C>A n.1005G>T c.2247C>A (p.Phe749Leu) c.1890C>A (p.Phe630Leu) n.2948C>A | |
2 | g.166277224A= | CA1304965249 | SCN1A-AS1,SCN9A | c.2633T= (p.Phe878=) c.2600T= (p.Phe867=) c.290T= (p.Phe97=) c.1635T= n.1006A= c.2246T= (p.Phe749=) c.1889T= (p.Phe630=) n.2947T= | |
2 | g.166277224A>C | CA349077918 | SCN1A-AS1,SCN9A | c.2633T>G (p.Phe878Cys) c.2600T>G (p.Phe867Cys) c.290T>G (p.Phe97Cys) c.1635T>G n.1006A>C c.2246T>G (p.Phe749Cys) c.1889T>G (p.Phe630Cys) n.2947T>G | |
2 | g.166277224A>G | CA349077919 | SCN1A-AS1,SCN9A | c.2633T>C (p.Phe878Ser) c.2600T>C (p.Phe867Ser) c.290T>C (p.Phe97Ser) c.1635T>C n.1006A>G c.2246T>C (p.Phe749Ser) c.1889T>C (p.Phe630Ser) n.2947T>C | ClinVar dbSNP gnomAD v4 |
2 | g.166277224A>T | CA349077920 | SCN1A-AS1,SCN9A | c.2633T>A (p.Phe878Tyr) c.2600T>A (p.Phe867Tyr) c.290T>A (p.Phe97Tyr) c.1635T>A n.1006A>T c.2246T>A (p.Phe749Tyr) c.1889T>A (p.Phe630Tyr) n.2947T>A | |
2 | g.166277225A>C | CA349077921 | SCN1A-AS1,SCN9A | c.2632T>G (p.Phe878Val) c.2599T>G (p.Phe867Val) c.289T>G (p.Phe97Val) c.1634T>G n.1007A>C c.2245T>G (p.Phe749Val) c.1888T>G (p.Phe630Val) n.2946T>G | |
2 | g.166277225A>G | CA349077922 | SCN1A-AS1,SCN9A | c.2632T>C (p.Phe878Leu) c.2599T>C (p.Phe867Leu) c.289T>C (p.Phe97Leu) c.1634T>C n.1007A>G c.2245T>C (p.Phe749Leu) c.1888T>C (p.Phe630Leu) n.2946T>C | COSMIC COSMIC |
2 | g.166277225A>T | CA349077923 | SCN1A-AS1,SCN9A | c.2632T>A (p.Phe878Ile) c.2599T>A (p.Phe867Ile) c.289T>A (p.Phe97Ile) c.1634T>A n.1007A>T c.2245T>A (p.Phe749Ile) c.1888T>A (p.Phe630Ile) n.2946T>A | |
2 | g.166277226G>A | CA429978393 | SCN1A-AS1,SCN9A | c.2631C>T (p.Val877=) c.2598C>T (p.Val866=) c.288C>T (p.Val96=) c.1633C>T n.1008G>A c.2244C>T (p.Val748=) c.1887C>T (p.Val629=) n.2945C>T | ClinVar |
2 | g.166277226G>C | CA429978394 | SCN1A-AS1,SCN9A | c.2631C>G (p.Val877=) c.2598C>G (p.Val866=) c.288C>G (p.Val96=) c.1633C>G n.1008G>C c.2244C>G (p.Val748=) c.1887C>G (p.Val629=) n.2945C>G | |
2 | g.166277226G>T | CA429978392 | SCN1A-AS1,SCN9A | c.2631C>A (p.Val877=) c.2598C>A (p.Val866=) c.288C>A (p.Val96=) c.1633C>A n.1008G>T c.2244C>A (p.Val748=) c.1887C>A (p.Val629=) n.2945C>A | |
2 | g.166277227A= | CA1304965259 | SCN1A-AS1,SCN9A | c.2630T= (p.Val877=) c.2597T= (p.Val866=) c.287T= (p.Val96=) c.1632T= n.1009A= c.2243T= (p.Val748=) c.1886T= (p.Val629=) n.2944T= | |
2 | g.166277227A>C | CA349077926 | SCN1A-AS1,SCN9A | c.2630T>G (p.Val877Gly) c.2597T>G (p.Val866Gly) c.287T>G (p.Val96Gly) c.1632T>G n.1009A>C c.2243T>G (p.Val748Gly) c.1886T>G (p.Val629Gly) n.2944T>G | ClinVar dbSNP |
2 | g.166277227A>G | CA349077925 | SCN1A-AS1,SCN9A | c.2630T>C (p.Val877Ala) c.2597T>C (p.Val866Ala) c.287T>C (p.Val96Ala) c.1632T>C n.1009A>G c.2243T>C (p.Val748Ala) c.1886T>C (p.Val629Ala) n.2944T>C | |
2 | g.166277227A>T | CA349077924 | SCN1A-AS1,SCN9A | c.2630T>A (p.Val877Asp) c.2597T>A (p.Val866Asp) c.287T>A (p.Val96Asp) c.1632T>A n.1009A>T c.2243T>A (p.Val748Asp) c.1886T>A (p.Val629Asp) n.2944T>A | |
2 | g.166277228C>A | CA1944230 | SCN1A-AS1,SCN9A | c.2629G>T (p.Val877Phe) c.2596G>T (p.Val866Phe) c.286G>T (p.Val96Phe) c.1631G>T n.1010C>A c.2242G>T (p.Val748Phe) c.1885G>T (p.Val629Phe) n.2943G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277228C= | CA1304965272 | SCN1A-AS1,SCN9A | c.2629G= (p.Val877=) c.2596G= (p.Val866=) c.286G= (p.Val96=) c.1631G= n.1010C= c.2242G= (p.Val748=) c.1885G= (p.Val629=) n.2943G= | |
2 | g.166277228C>G | CA349077927 | SCN1A-AS1,SCN9A | c.2629G>C (p.Val877Leu) c.2596G>C (p.Val866Leu) c.286G>C (p.Val96Leu) c.1631G>C n.1010C>G c.2242G>C (p.Val748Leu) c.1885G>C (p.Val629Leu) n.2943G>C | gnomAD v4 |
2 | g.166277228C>T | CA1944229 | SCN1A-AS1,SCN9A | c.2629G>A (p.Val877Ile) c.2596G>A (p.Val866Ile) c.286G>A (p.Val96Ile) c.1631G>A n.1010C>T c.2242G>A (p.Val748Ile) c.1885G>A (p.Val629Ile) n.2943G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166277229G>A | CA1944231 | SCN1A-AS1,SCN9A | c.2628C>T (p.Ile876=) c.2595C>T (p.Ile865=) c.285C>T (p.Ile95=) c.1630C>T n.1011G>A c.2241C>T (p.Ile747=) c.1884C>T (p.Ile628=) n.2942C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.166277229G>C | CA349077928 | SCN1A-AS1,SCN9A | c.2628C>G (p.Ile876Met) c.2595C>G (p.Ile865Met) c.285C>G (p.Ile95Met) c.1630C>G n.1011G>C c.2241C>G (p.Ile747Met) c.1884C>G (p.Ile628Met) n.2942C>G | |
2 | g.166277229G= | CA1304965284 | SCN1A-AS1,SCN9A | c.2628C= (p.Ile876=) c.2595C= (p.Ile865=) c.285C= (p.Ile95=) c.1630C= n.1011G= c.2241C= (p.Ile747=) c.1884C= (p.Ile628=) n.2942C= | |
2 | g.166277229G>T | CA429978397 | SCN1A-AS1,SCN9A | c.2628C>A (p.Ile876=) c.2595C>A (p.Ile865=) c.285C>A (p.Ile95=) c.1630C>A n.1011G>T c.2241C>A (p.Ile747=) c.1884C>A (p.Ile628=) n.2942C>A | |
2 | g.166277230A>C | CA349077929 | SCN1A-AS1,SCN9A | c.2627T>G (p.Ile876Ser) c.2594T>G (p.Ile865Ser) c.284T>G (p.Ile95Ser) c.1629T>G n.1012A>C c.2240T>G (p.Ile747Ser) c.1883T>G (p.Ile628Ser) n.2941T>G | |
2 | g.166277230A>G | CA349077930 | SCN1A-AS1,SCN9A | c.2627T>C (p.Ile876Thr) c.2594T>C (p.Ile865Thr) c.284T>C (p.Ile95Thr) c.1629T>C n.1012A>G c.2240T>C (p.Ile747Thr) c.1883T>C (p.Ile628Thr) n.2941T>C | |
2 | g.166277230A>T | CA349077931 | SCN1A-AS1,SCN9A | c.2627T>A (p.Ile876Asn) c.2594T>A (p.Ile865Asn) c.284T>A (p.Ile95Asn) c.1629T>A n.1012A>T c.2240T>A (p.Ile747Asn) c.1883T>A (p.Ile628Asn) n.2941T>A | |
2 | g.166277231T>A | CA349077932 | SCN1A-AS1,SCN9A | c.2626A>T (p.Ile876Phe) c.2593A>T (p.Ile865Phe) c.283A>T (p.Ile95Phe) c.1628A>T n.1013T>A c.2239A>T (p.Ile747Phe) c.1882A>T (p.Ile628Phe) n.2940A>T | |
2 | g.166277231T>C | CA349077933 | SCN1A-AS1,SCN9A | c.2626A>G (p.Ile876Val) c.2593A>G (p.Ile865Val) c.283A>G (p.Ile95Val) c.1628A>G n.1013T>C c.2239A>G (p.Ile747Val) c.1882A>G (p.Ile628Val) n.2940A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277231T>G | CA349077934 | SCN1A-AS1,SCN9A | c.2626A>C (p.Ile876Leu) c.2593A>C (p.Ile865Leu) c.283A>C (p.Ile95Leu) c.1628A>C n.1013T>G c.2239A>C (p.Ile747Leu) c.1882A>C (p.Ile628Leu) n.2940A>C | |
2 | g.166277231T= | CA1304965288 | SCN1A-AS1,SCN9A | c.2626A= (p.Ile876=) c.2593A= (p.Ile865=) c.283A= (p.Ile95=) c.1628A= n.1013T= c.2239A= (p.Ile747=) c.1882A= (p.Ile628=) n.2940A= | |
2 | g.166277232G>A | CA429978400 | SCN1A-AS1,SCN9A | c.2625C>T (p.Ile875=) c.2592C>T (p.Ile864=) c.282C>T (p.Ile94=) c.1627C>T n.1014G>A c.2238C>T (p.Ile746=) c.1881C>T (p.Ile627=) n.2939C>T | COSMIC COSMIC |
2 | g.166277232G>C | CA349077935 | SCN1A-AS1,SCN9A | c.2625C>G (p.Ile875Met) c.2592C>G (p.Ile864Met) c.282C>G (p.Ile94Met) c.1627C>G n.1014G>C c.2238C>G (p.Ile746Met) c.1881C>G (p.Ile627Met) n.2939C>G | |
2 | g.166277232G>T | CA429978399 | SCN1A-AS1,SCN9A | c.2625C>A (p.Ile875=) c.2592C>A (p.Ile864=) c.282C>A (p.Ile94=) c.1627C>A n.1014G>T c.2238C>A (p.Ile746=) c.1881C>A (p.Ile627=) n.2939C>A | |
2 | g.166277233A>C | CA349077936 | SCN1A-AS1,SCN9A | c.2624T>G (p.Ile875Ser) c.2591T>G (p.Ile864Ser) c.281T>G (p.Ile94Ser) c.1626T>G n.1015A>C c.2237T>G (p.Ile746Ser) c.1880T>G (p.Ile627Ser) n.2938T>G | |
2 | g.166277233A>G | CA349077938 | SCN1A-AS1,SCN9A | c.2624T>C (p.Ile875Thr) c.2591T>C (p.Ile864Thr) c.281T>C (p.Ile94Thr) c.1626T>C n.1015A>G c.2237T>C (p.Ile746Thr) c.1880T>C (p.Ile627Thr) n.2938T>C | COSMIC |
2 | g.166277233A>T | CA349077937 | SCN1A-AS1,SCN9A | c.2624T>A (p.Ile875Asn) c.2591T>A (p.Ile864Asn) c.281T>A (p.Ile94Asn) c.1626T>A n.1015A>T c.2237T>A (p.Ile746Asn) c.1880T>A (p.Ile627Asn) n.2938T>A | |
2 | g.166277234T>A | CA349077939 | SCN1A-AS1,SCN9A | c.2623A>T (p.Ile875Phe) c.2590A>T (p.Ile864Phe) c.280A>T (p.Ile94Phe) c.1625A>T n.1016T>A c.2236A>T (p.Ile746Phe) c.1879A>T (p.Ile627Phe) n.2937A>T | gnomAD v4 |
2 | g.166277234T>C | CA349077941 | SCN1A-AS1,SCN9A | c.2623A>G (p.Ile875Val) c.2590A>G (p.Ile864Val) c.280A>G (p.Ile94Val) c.1625A>G n.1016T>C c.2236A>G (p.Ile746Val) c.1879A>G (p.Ile627Val) n.2937A>G | gnomAD v4 |
2 | g.166277234T>G | CA349077940 | SCN1A-AS1,SCN9A | c.2623A>C (p.Ile875Leu) c.2590A>C (p.Ile864Leu) c.280A>C (p.Ile94Leu) c.1625A>C n.1016T>G c.2236A>C (p.Ile746Leu) c.1879A>C (p.Ile627Leu) n.2937A>C | |
2 | g.166277235G>A | CA1944232 | SCN1A-AS1,SCN9A | c.2622C>T (p.Ala874=) c.2589C>T (p.Ala863=) c.279C>T (p.Ala93=) c.1624C>T n.1017G>A c.2235C>T (p.Ala745=) c.1878C>T (p.Ala626=) n.2936C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277235G>C | CA429978403 | SCN1A-AS1,SCN9A | c.2622C>G (p.Ala874=) c.2589C>G (p.Ala863=) c.279C>G (p.Ala93=) c.1624C>G n.1017G>C c.2235C>G (p.Ala745=) c.1878C>G (p.Ala626=) n.2936C>G | |
2 | g.166277235G= | CA1304965295 | SCN1A-AS1,SCN9A | c.2622C= (p.Ala874=) c.2589C= (p.Ala863=) c.279C= (p.Ala93=) c.1624C= n.1017G= c.2235C= (p.Ala745=) c.1878C= (p.Ala626=) n.2936C= | |
2 | g.166277235G>T | CA429978404 | SCN1A-AS1,SCN9A | c.2622C>A (p.Ala874=) c.2589C>A (p.Ala863=) c.279C>A (p.Ala93=) c.1624C>A n.1017G>T c.2235C>A (p.Ala745=) c.1878C>A (p.Ala626=) n.2936C>A | |
2 | g.166277236G>A | CA59794752 | SCN1A-AS1,SCN9A | c.2621C>T (p.Ala874Val) c.2588C>T (p.Ala863Val) c.278C>T (p.Ala93Val) c.1623C>T n.1018G>A c.2234C>T (p.Ala745Val) c.1877C>T (p.Ala626Val) n.2935C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.166277236G>C | CA349077942 | SCN1A-AS1,SCN9A | c.2621C>G (p.Ala874Gly) c.2588C>G (p.Ala863Gly) c.278C>G (p.Ala93Gly) c.1623C>G n.1018G>C c.2234C>G (p.Ala745Gly) c.1877C>G (p.Ala626Gly) n.2935C>G | |
2 | g.166277236G= | CA1304965300 | SCN1A-AS1,SCN9A | c.2621C= (p.Ala874=) c.2588C= (p.Ala863=) c.278C= (p.Ala93=) c.1623C= n.1018G= c.2234C= (p.Ala745=) c.1877C= (p.Ala626=) n.2935C= | |
2 | g.166277236G>T | CA349077943 | SCN1A-AS1,SCN9A | c.2621C>A (p.Ala874Asp) c.2588C>A (p.Ala863Asp) c.278C>A (p.Ala93Asp) c.1623C>A n.1018G>T c.2234C>A (p.Ala745Asp) c.1877C>A (p.Ala626Asp) n.2935C>A | |
2 | g.166277237C>A | CA1944233 | SCN1A-AS1,SCN9A | c.2620G>T (p.Ala874Ser) c.2587G>T (p.Ala863Ser) c.277G>T (p.Ala93Ser) c.1622G>T n.1019C>A c.2233G>T (p.Ala745Ser) c.1876G>T (p.Ala626Ser) n.2934G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.166277237C= | CA1304965311 | SCN1A-AS1,SCN9A | c.2620G= (p.Ala874=) c.2587G= (p.Ala863=) c.277G= (p.Ala93=) c.1622G= n.1019C= c.2233G= (p.Ala745=) c.1876G= (p.Ala626=) n.2934G= | |
2 | g.166277237C>G | CA341936 | SCN1A-AS1,SCN9A | c.2620G>C (p.Ala874Pro) c.2587G>C (p.Ala863Pro) c.277G>C (p.Ala93Pro) c.1622G>C n.1019C>G c.2233G>C (p.Ala745Pro) c.1876G>C (p.Ala626Pro) n.2934G>C | ClinVar dbSNP |
2 | g.166277237C>T | CA349077944 | SCN1A-AS1,SCN9A | c.2620G>A (p.Ala874Thr) c.2587G>A (p.Ala863Thr) c.277G>A (p.Ala93Thr) c.1622G>A n.1019C>T c.2233G>A (p.Ala745Thr) c.1876G>A (p.Ala626Thr) n.2934G>A | dbSNP |
2 | g.166277238C>A | CA349077945 | SCN1A-AS1,SCN9A | c.2619G>T (p.Leu873Phe) c.2586G>T (p.Leu862Phe) c.276G>T (p.Leu92Phe) c.1621G>T n.1020C>A c.2232G>T (p.Leu744Phe) c.1875G>T (p.Leu625Phe) n.2933G>T | |
2 | g.166277238C>G | CA349077946 | SCN1A-AS1,SCN9A | c.2619G>C (p.Leu873Phe) c.2586G>C (p.Leu862Phe) c.276G>C (p.Leu92Phe) c.1621G>C n.1020C>G c.2232G>C (p.Leu744Phe) c.1875G>C (p.Leu625Phe) n.2933G>C | |
2 | g.166277238C>T | CA429978408 | SCN1A-AS1,SCN9A | c.2619G>A (p.Leu873=) c.2586G>A (p.Leu862=) c.276G>A (p.Leu92=) c.1621G>A n.1020C>T c.2232G>A (p.Leu744=) c.1875G>A (p.Leu625=) n.2933G>A | ClinVar dbSNP |
2 | g.166277239A= | CA1304965321 | SCN1A-AS1,SCN9A | c.2618T= (p.Leu873=) c.2585T= (p.Leu862=) c.275T= (p.Leu92=) c.1620T= n.1021A= c.2231T= (p.Leu744=) c.1874T= (p.Leu625=) n.2932T= | |
2 | g.166277239A>C | CA349077947 | SCN1A-AS1,SCN9A | c.2618T>G (p.Leu873Trp) c.2585T>G (p.Leu862Trp) c.275T>G (p.Leu92Trp) c.1620T>G n.1021A>C c.2231T>G (p.Leu744Trp) c.1874T>G (p.Leu625Trp) n.2932T>G | |
2 | g.166277239A>G | CA349077948 | SCN1A-AS1,SCN9A | c.2618T>C (p.Leu873Ser) c.2585T>C (p.Leu862Ser) c.275T>C (p.Leu92Ser) c.1620T>C n.1021A>G c.2231T>C (p.Leu744Ser) c.1874T>C (p.Leu625Ser) n.2932T>C | |
2 | g.166277239A>T | CA349077949 | SCN1A-AS1,SCN9A | c.2618T>A (p.Leu873Ter) c.2585T>A (p.Leu862Ter) c.275T>A (p.Leu92Ter) c.1620T>A n.1021A>T c.2231T>A (p.Leu744Ter) c.1874T>A (p.Leu625Ter) n.2932T>A | dbSNP |
2 | g.166277240A>C | CA349077951 | SCN1A-AS1,SCN9A | c.2617T>G (p.Leu873Val) c.2584T>G (p.Leu862Val) c.274T>G (p.Leu92Val) c.1619T>G n.1022A>C c.2230T>G (p.Leu744Val) c.1873T>G (p.Leu625Val) n.2931T>G | |
2 | g.166277240A>G | CA429978413 | SCN1A-AS1,SCN9A | c.2617T>C (p.Leu873=) c.2584T>C (p.Leu862=) c.274T>C (p.Leu92=) c.1619T>C n.1022A>G c.2230T>C (p.Leu744=) c.1873T>C (p.Leu625=) n.2931T>C | gnomAD v4 COSMIC COSMIC |
2 | g.166277240A>T | CA349077950 | SCN1A-AS1,SCN9A | c.2617T>A (p.Leu873Met) c.2584T>A (p.Leu862Met) c.274T>A (p.Leu92Met) c.1619T>A n.1022A>T c.2230T>A (p.Leu744Met) c.1873T>A (p.Leu625Met) n.2931T>A | |
2 | g.166277241C>A | CA429978414 | SCN1A-AS1,SCN9A | c.2616G>T (p.Val872=) c.2583G>T (p.Val861=) c.273G>T (p.Val91=) c.1618G>T n.1023C>A c.2229G>T (p.Val743=) c.1872G>T (p.Val624=) n.2930G>T | |
2 | g.166277241C= | CA1304965326 | SCN1A-AS1,SCN9A | c.2616G= (p.Val872=) c.2583G= (p.Val861=) c.273G= (p.Val91=) c.1618G= n.1023C= c.2229G= (p.Val743=) c.1872G= (p.Val624=) n.2930G= | |
2 | g.166277241C>G | CA429978415 | SCN1A-AS1,SCN9A | c.2616G>C (p.Val872=) c.2583G>C (p.Val861=) c.273G>C (p.Val91=) c.1618G>C n.1023C>G c.2229G>C (p.Val743=) c.1872G>C (p.Val624=) n.2930G>C | |
2 | g.166277241C>T | CA429978416 | SCN1A-AS1,SCN9A | c.2616G>A (p.Val872=) c.2583G>A (p.Val861=) c.273G>A (p.Val91=) c.1618G>A n.1023C>T c.2229G>A (p.Val743=) c.1872G>A (p.Val624=) n.2930G>A | ClinVar dbSNP gnomAD v4 |
2 | g.166277242A>C | CA349077952 | SCN1A-AS1,SCN9A | c.2615T>G (p.Val872Gly) c.2582T>G (p.Val861Gly) c.272T>G (p.Val91Gly) c.1617T>G n.1024A>C c.2228T>G (p.Val743Gly) c.1871T>G (p.Val624Gly) n.2929T>G | |
2 | g.166277242A>G | CA349077953 | SCN1A-AS1,SCN9A | c.2615T>C (p.Val872Ala) c.2582T>C (p.Val861Ala) c.272T>C (p.Val91Ala) c.1617T>C n.1024A>G c.2228T>C (p.Val743Ala) c.1871T>C (p.Val624Ala) n.2929T>C | |
2 | g.166277242A>T | CA349077954 | SCN1A-AS1,SCN9A | c.2615T>A (p.Val872Glu) c.2582T>A (p.Val861Glu) c.272T>A (p.Val91Glu) c.1617T>A n.1024A>T c.2228T>A (p.Val743Glu) c.1871T>A (p.Val624Glu) n.2929T>A | |
2 | g.166277243C>A | CA349077955 | SCN1A-AS1,SCN9A | c.2614G>T (p.Val872Leu) c.2581G>T (p.Val861Leu) c.271G>T (p.Val91Leu) c.1616G>T n.1025C>A c.2227G>T (p.Val743Leu) c.1870G>T (p.Val624Leu) n.2928G>T | gnomAD v4 |
2 | g.166277243C>G | CA349077956 | SCN1A-AS1,SCN9A | c.2614G>C (p.Val872Leu) c.2581G>C (p.Val861Leu) c.271G>C (p.Val91Leu) c.1616G>C n.1025C>G c.2227G>C (p.Val743Leu) c.1870G>C (p.Val624Leu) n.2928G>C | |
2 | g.166277243C>T | CA349077957 | SCN1A-AS1,SCN9A | c.2614G>A (p.Val872Met) c.2581G>A (p.Val861Met) c.271G>A (p.Val91Met) c.1616G>A n.1025C>T c.2227G>A (p.Val743Met) c.1870G>A (p.Val624Met) n.2928G>A | |
2 | g.166277244T>A | CA349077958 | SCN1A-AS1,SCN9A | c.2613A>T (p.Leu871Phe) c.2580A>T (p.Leu860Phe) c.270A>T (p.Leu90Phe) c.1615A>T n.1026T>A c.2226A>T (p.Leu742Phe) c.1869A>T (p.Leu623Phe) n.2927A>T | |
2 | g.166277244T>C | CA1944234 | SCN1A-AS1,SCN9A | c.2613A>G (p.Leu871=) c.2580A>G (p.Leu860=) c.270A>G (p.Leu90=) c.1615A>G n.1026T>C c.2226A>G (p.Leu742=) c.1869A>G (p.Leu623=) n.2927A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277244T>G | CA349077959 | SCN1A-AS1,SCN9A | c.2613A>C (p.Leu871Phe) c.2580A>C (p.Leu860Phe) c.270A>C (p.Leu90Phe) c.1615A>C n.1026T>G c.2226A>C (p.Leu742Phe) c.1869A>C (p.Leu623Phe) n.2927A>C | |
2 | g.166277244T= | CA1304965344 | SCN1A-AS1,SCN9A | c.2613A= (p.Leu871=) c.2580A= (p.Leu860=) c.270A= (p.Leu90=) c.1615A= n.1026T= c.2226A= (p.Leu742=) c.1869A= (p.Leu623=) n.2927A= | |
2 | g.166277245A>C | CA349077960 | SCN1A-AS1,SCN9A | c.2612T>G (p.Leu871Ter) c.2579T>G (p.Leu860Ter) c.269T>G (p.Leu90Ter) c.1614T>G n.1027A>C c.2225T>G (p.Leu742Ter) c.1868T>G (p.Leu623Ter) n.2926T>G | |
2 | g.166277245A>G | CA349077961 | SCN1A-AS1,SCN9A | c.2612T>C (p.Leu871Ser) c.2579T>C (p.Leu860Ser) c.269T>C (p.Leu90Ser) c.1614T>C n.1027A>G c.2225T>C (p.Leu742Ser) c.1868T>C (p.Leu623Ser) n.2926T>C | |
2 | g.166277245A>T | CA349077962 | SCN1A-AS1,SCN9A | c.2612T>A (p.Leu871Ter) c.2579T>A (p.Leu860Ter) c.269T>A (p.Leu90Ter) c.1614T>A n.1027A>T c.2225T>A (p.Leu742Ter) c.1868T>A (p.Leu623Ter) n.2926T>A | |
2 | g.166277246A>C | CA349077964 | SCN1A-AS1,SCN9A | c.2611T>G (p.Leu871Val) c.2578T>G (p.Leu860Val) c.268T>G (p.Leu90Val) c.1613T>G n.1028A>C c.2224T>G (p.Leu742Val) c.1867T>G (p.Leu623Val) n.2925T>G | |
2 | g.166277246A>G | CA429978422 | SCN1A-AS1,SCN9A | c.2611T>C (p.Leu871=) c.2578T>C (p.Leu860=) c.268T>C (p.Leu90=) c.1613T>C n.1028A>G c.2224T>C (p.Leu742=) c.1867T>C (p.Leu623=) n.2925T>C | |
2 | g.166277246A>T | CA349077963 | SCN1A-AS1,SCN9A | c.2611T>A (p.Leu871Ile) c.2578T>A (p.Leu860Ile) c.268T>A (p.Leu90Ile) c.1613T>A n.1028A>T c.2224T>A (p.Leu742Ile) c.1867T>A (p.Leu623Ile) n.2925T>A | |
2 | g.166277247G>A | CA429978424 | SCN1A-AS1,SCN9A | c.2610C>T (p.Thr870=) c.2577C>T (p.Thr859=) c.267C>T (p.Thr89=) c.1612C>T n.1029G>A c.2223C>T (p.Thr741=) c.1866C>T (p.Thr622=) n.2924C>T | |
2 | g.166277247G>C | CA429978425 | SCN1A-AS1,SCN9A | c.2610C>G (p.Thr870=) c.2577C>G (p.Thr859=) c.267C>G (p.Thr89=) c.1612C>G n.1029G>C c.2223C>G (p.Thr741=) c.1866C>G (p.Thr622=) n.2924C>G | |
2 | g.166277247G>T | CA429978426 | SCN1A-AS1,SCN9A | c.2610C>A (p.Thr870=) c.2577C>A (p.Thr859=) c.267C>A (p.Thr89=) c.1612C>A n.1029G>T c.2223C>A (p.Thr741=) c.1866C>A (p.Thr622=) n.2924C>A | |
2 | g.166277248G>A | CA349077965 | SCN1A-AS1,SCN9A | c.2609C>T (p.Thr870Ile) c.2576C>T (p.Thr859Ile) c.266C>T (p.Thr89Ile) c.1611C>T n.1029+1G>A c.2222C>T (p.Thr741Ile) c.1865C>T (p.Thr622Ile) n.2923C>T | ClinVar gnomAD v4 |
2 | g.166277248G>C | CA349077967 | SCN1A-AS1,SCN9A | c.2609C>G (p.Thr870Ser) c.2576C>G (p.Thr859Ser) c.266C>G (p.Thr89Ser) c.1611C>G n.1029+1G>C c.2222C>G (p.Thr741Ser) c.1865C>G (p.Thr622Ser) n.2923C>G | |
2 | g.166277248G>T | CA349077966 | SCN1A-AS1,SCN9A | c.2609C>A (p.Thr870Asn) c.2576C>A (p.Thr859Asn) c.266C>A (p.Thr89Asn) c.1611C>A n.1029+1G>T c.2222C>A (p.Thr741Asn) c.1865C>A (p.Thr622Asn) n.2923C>A | |
2 | g.166277249T>A | CA349077968 | SCN1A-AS1,SCN9A | c.2608A>T (p.Thr870Ser) c.2575A>T (p.Thr859Ser) c.265A>T (p.Thr89Ser) c.1610A>T n.1029+2T>A c.2221A>T (p.Thr741Ser) c.1864A>T (p.Thr622Ser) n.2922A>T | |
2 | g.166277249T>C | CA349077969 | SCN1A-AS1,SCN9A | c.2608A>G (p.Thr870Ala) c.2575A>G (p.Thr859Ala) c.265A>G (p.Thr89Ala) c.1610A>G n.1029+2T>C c.2221A>G (p.Thr741Ala) c.1864A>G (p.Thr622Ala) n.2922A>G | |
2 | g.166277249T>G | CA349077970 | SCN1A-AS1,SCN9A | c.2608A>C (p.Thr870Pro) c.2575A>C (p.Thr859Pro) c.265A>C (p.Thr89Pro) c.1610A>C n.1029+2T>G c.2221A>C (p.Thr741Pro) c.1864A>C (p.Thr622Pro) n.2922A>C | |
2 | g.166277250G>A | CA429978430 | SCN1A-AS1,SCN9A | c.2607C>T (p.Leu869=) c.2574C>T (p.Leu858=) c.264C>T (p.Leu88=) c.1609C>T n.1029+3G>A c.2220C>T (p.Leu740=) c.1863C>T (p.Leu621=) n.2921C>T | |
2 | g.166277250G>C | CA429978431 | SCN1A-AS1,SCN9A | c.2607C>G (p.Leu869=) c.2574C>G (p.Leu858=) c.264C>G (p.Leu88=) c.1609C>G n.1029+3G>C c.2220C>G (p.Leu740=) c.1863C>G (p.Leu621=) n.2921C>G | gnomAD v4 |
2 | g.166277250G>T | CA429978432 | SCN1A-AS1,SCN9A | c.2607C>A (p.Leu869=) c.2574C>A (p.Leu858=) c.264C>A (p.Leu88=) c.1609C>A n.1029+3G>T c.2220C>A (p.Leu740=) c.1863C>A (p.Leu621=) n.2921C>A | |
2 | g.166277251A= | CA1304965354 | SCN1A-AS1,SCN9A | c.2606T= (p.Leu869=) c.2573T= (p.Leu858=) c.263T= (p.Leu88=) c.1608T= n.1029+4A= c.2219T= (p.Leu740=) c.1862T= (p.Leu621=) n.2920T= | |
2 | g.166277251A>C | CA349077971 | SCN1A-AS1,SCN9A | c.2606T>G (p.Leu869Arg) c.2573T>G (p.Leu858Arg) c.263T>G (p.Leu88Arg) c.1608T>G n.1029+4A>C c.2219T>G (p.Leu740Arg) c.1862T>G (p.Leu621Arg) n.2920T>G | |
2 | g.166277251A>G | CA349077972 | SCN1A-AS1,SCN9A | c.2606T>C (p.Leu869Pro) c.2573T>C (p.Leu858Pro) c.263T>C (p.Leu88Pro) c.1608T>C n.1029+4A>G c.2219T>C (p.Leu740Pro) c.1862T>C (p.Leu621Pro) n.2920T>C | |
2 | g.166277251A>T | CA340542 | SCN1A-AS1,SCN9A | c.2606T>A (p.Leu869His) c.2573T>A (p.Leu858His) c.263T>A (p.Leu88His) c.1608T>A n.1029+4A>T c.2219T>A (p.Leu740His) c.1862T>A (p.Leu621His) n.2920T>A | ClinVar dbSNP |
2 | g.166277252G>A | CA340554 | SCN1A-AS1,SCN9A | c.2605C>T (p.Leu869Phe) c.2572C>T (p.Leu858Phe) c.262C>T (p.Leu88Phe) c.1607C>T n.1029+5G>A c.2218C>T (p.Leu740Phe) c.1861C>T (p.Leu621Phe) n.2919C>T | ClinVar dbSNP |
2 | g.166277252G>C | CA349077973 | SCN1A-AS1,SCN9A | c.2605C>G (p.Leu869Val) c.2572C>G (p.Leu858Val) c.262C>G (p.Leu88Val) c.1607C>G n.1029+5G>C c.2218C>G (p.Leu740Val) c.1861C>G (p.Leu621Val) n.2919C>G | |
2 | g.166277252G= | CA1304965368 | SCN1A-AS1,SCN9A | c.2605C= (p.Leu869=) c.2572C= (p.Leu858=) c.262C= (p.Leu88=) c.1607C= n.1029+5G= c.2218C= (p.Leu740=) c.1861C= (p.Leu621=) n.2919C= | |
2 | g.166277252G>T | CA349077974 | SCN1A-AS1,SCN9A | c.2605C>A (p.Leu869Ile) c.2572C>A (p.Leu858Ile) c.262C>A (p.Leu88Ile) c.1607C>A n.1029+5G>T c.2218C>A (p.Leu740Ile) c.1861C>A (p.Leu621Ile) n.2919C>A | |
2 | g.166277253G>A | CA429978198 | SCN1A-AS1,SCN9A | c.2604C>T (p.Asn868=) c.2571C>T (p.Asn857=) c.261C>T (p.Asn87=) c.1606C>T n.1029+6G>A c.2217C>T (p.Asn739=) c.1860C>T (p.Asn620=) n.2918C>T | |
2 | g.166277253G>C | CA349077975 | SCN1A-AS1,SCN9A | c.2604C>G (p.Asn868Lys) c.2571C>G (p.Asn857Lys) c.261C>G (p.Asn87Lys) c.1606C>G n.1029+6G>C c.2217C>G (p.Asn739Lys) c.1860C>G (p.Asn620Lys) n.2918C>G | |
2 | g.166277253G>T | CA349077976 | SCN1A-AS1,SCN9A | c.2604C>A (p.Asn868Lys) c.2571C>A (p.Asn857Lys) c.261C>A (p.Asn87Lys) c.1606C>A n.1029+6G>T c.2217C>A (p.Asn739Lys) c.1860C>A (p.Asn620Lys) n.2918C>A | |
2 | g.166277254T>A | CA349077979 | SCN1A-AS1,SCN9A | c.2603A>T (p.Asn868Ile) c.2570A>T (p.Asn857Ile) c.260A>T (p.Asn87Ile) c.1605A>T n.1029+7T>A c.2216A>T (p.Asn739Ile) c.1859A>T (p.Asn620Ile) n.2917A>T | |
2 | g.166277254T>C | CA349077978 | SCN1A-AS1,SCN9A | c.2603A>G (p.Asn868Ser) c.2570A>G (p.Asn857Ser) c.260A>G (p.Asn87Ser) c.1605A>G n.1029+7T>C c.2216A>G (p.Asn739Ser) c.1859A>G (p.Asn620Ser) n.2917A>G | dbSNP |
2 | g.166277254T>G | CA349077977 | SCN1A-AS1,SCN9A | c.2603A>C (p.Asn868Thr) c.2570A>C (p.Asn857Thr) c.260A>C (p.Asn87Thr) c.1605A>C n.1029+7T>G c.2216A>C (p.Asn739Thr) c.1859A>C (p.Asn620Thr) n.2917A>C | |
2 | g.166277254T= | CA1304965375 | SCN1A-AS1,SCN9A | c.2603A= (p.Asn868=) c.2570A= (p.Asn857=) c.260A= (p.Asn87=) c.1605A= n.1029+7T= c.2216A= (p.Asn739=) c.1859A= (p.Asn620=) n.2917A= | |
2 | g.166277255T>A | CA349077980 | SCN1A-AS1,SCN9A | c.2602A>T (p.Asn868Tyr) c.2569A>T (p.Asn857Tyr) c.259A>T (p.Asn87Tyr) c.1604A>T n.1029+8T>A c.2215A>T (p.Asn739Tyr) c.1858A>T (p.Asn620Tyr) n.2916A>T | |
2 | g.166277255T>C | CA349077981 | SCN1A-AS1,SCN9A | c.2602A>G (p.Asn868Asp) c.2569A>G (p.Asn857Asp) c.259A>G (p.Asn87Asp) c.1604A>G n.1029+8T>C c.2215A>G (p.Asn739Asp) c.1858A>G (p.Asn620Asp) n.2916A>G | |
2 | g.166277255T>G | CA349077982 | SCN1A-AS1,SCN9A | c.2602A>C (p.Asn868His) c.2569A>C (p.Asn857His) c.259A>C (p.Asn87His) c.1604A>C n.1029+8T>G c.2215A>C (p.Asn739His) c.1858A>C (p.Asn620His) n.2916A>C | |
2 | g.166277256A= | CA1304965383 | SCN1A-AS1,SCN9A | c.2601T= (p.Gly867=) c.2568T= (p.Gly856=) c.258T= (p.Gly86=) c.1603T= n.1029+9A= c.2214T= (p.Gly738=) c.1857T= (p.Gly619=) n.2915T= | |
2 | g.166277256A>C | CA429978199 | SCN1A-AS1,SCN9A | c.2601T>G (p.Gly867=) c.2568T>G (p.Gly856=) c.258T>G (p.Gly86=) c.1603T>G n.1029+9A>C c.2214T>G (p.Gly738=) c.1857T>G (p.Gly619=) n.2915T>G | |
2 | g.166277256A>G | CA429978200 | SCN1A-AS1,SCN9A | c.2601T>C (p.Gly867=) c.2568T>C (p.Gly856=) c.258T>C (p.Gly86=) c.1603T>C n.1029+9A>G c.2214T>C (p.Gly738=) c.1857T>C (p.Gly619=) n.2915T>C | |
2 | g.166277256A>T | CA1944235 | SCN1A-AS1,SCN9A | c.2601T>A (p.Gly867=) c.2568T>A (p.Gly856=) c.258T>A (p.Gly86=) c.1603T>A n.1029+9A>T c.2214T>A (p.Gly738=) c.1857T>A (p.Gly619=) n.2915T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277257C>A | CA349077983 | SCN1A-AS1,SCN9A | c.2600G>T (p.Gly867Val) c.2567G>T (p.Gly856Val) c.257G>T (p.Gly86Val) c.1602G>T n.1029+10C>A c.2213G>T (p.Gly738Val) c.1856G>T (p.Gly619Val) n.2914G>T | |
2 | g.166277257C= | CA1304965397 | SCN1A-AS1,SCN9A | c.2600G= (p.Gly867=) c.2567G= (p.Gly856=) c.257G= (p.Gly86=) c.1602G= n.1029+10C= c.2213G= (p.Gly738=) c.1856G= (p.Gly619=) n.2914G= | |
2 | g.166277257C>G | CA349077984 | SCN1A-AS1,SCN9A | c.2600G>C (p.Gly867Ala) c.2567G>C (p.Gly856Ala) c.257G>C (p.Gly86Ala) c.1602G>C n.1029+10C>G c.2213G>C (p.Gly738Ala) c.1856G>C (p.Gly619Ala) n.2914G>C | |
2 | g.166277257C>T | CA10584165 | SCN1A-AS1,SCN9A | c.2600G>A (p.Gly867Asp) c.2567G>A (p.Gly856Asp) c.257G>A (p.Gly86Asp) c.1602G>A n.1029+10C>T c.2213G>A (p.Gly738Asp) c.1856G>A (p.Gly619Asp) n.2914G>A | ClinVar dbSNP |
2 | g.166277258C>A | CA349077985 | SCN1A-AS1,SCN9A | c.2599G>T (p.Gly867Cys) c.2566G>T (p.Gly856Cys) c.256G>T (p.Gly86Cys) c.1601G>T n.1029+11C>A c.2212G>T (p.Gly738Cys) c.1855G>T (p.Gly619Cys) n.2913G>T | |
2 | g.166277258C= | CA1304965407 | SCN1A-AS1,SCN9A | c.2599G= (p.Gly867=) c.2566G= (p.Gly856=) c.256G= (p.Gly86=) c.1601G= n.1029+11C= c.2212G= (p.Gly738=) c.1855G= (p.Gly619=) n.2913G= | |
2 | g.166277258C>G | CA349077986 | SCN1A-AS1,SCN9A | c.2599G>C (p.Gly867Arg) c.2566G>C (p.Gly856Arg) c.256G>C (p.Gly86Arg) c.1601G>C n.1029+11C>G c.2212G>C (p.Gly738Arg) c.1855G>C (p.Gly619Arg) n.2913G>C | ClinVar dbSNP |
2 | g.166277258C>T | CA349077987 | SCN1A-AS1,SCN9A | c.2599G>A (p.Gly867Ser) c.2566G>A (p.Gly856Ser) c.256G>A (p.Gly86Ser) c.1601G>A n.1029+11C>T c.2212G>A (p.Gly738Ser) c.1855G>A (p.Gly619Ser) n.2913G>A | |
2 | g.166277259T>A | CA429978201 | SCN1A-AS1,SCN9A | c.2598A>T (p.Leu866=) c.2565A>T (p.Leu855=) c.255A>T (p.Leu85=) c.1600A>T n.1029+12T>A c.2211A>T (p.Leu737=) c.1854A>T (p.Leu618=) n.2912A>T | |
2 | g.166277259T>C | CA429978203 | SCN1A-AS1,SCN9A | c.2598A>G (p.Leu866=) c.2565A>G (p.Leu855=) c.255A>G (p.Leu85=) c.1600A>G n.1029+12T>C c.2211A>G (p.Leu737=) c.1854A>G (p.Leu618=) n.2912A>G | |
2 | g.166277259T>G | CA429978202 | SCN1A-AS1,SCN9A | c.2598A>C (p.Leu866=) c.2565A>C (p.Leu855=) c.255A>C (p.Leu85=) c.1600A>C n.1029+12T>G c.2211A>C (p.Leu737=) c.1854A>C (p.Leu618=) n.2912A>C | |
2 | g.166277260A>C | CA349077988 | SCN1A-AS1,SCN9A | c.2597T>G (p.Leu866Arg) c.2564T>G (p.Leu855Arg) c.254T>G (p.Leu85Arg) c.1599T>G n.1029+13A>C c.2210T>G (p.Leu737Arg) c.1853T>G (p.Leu618Arg) n.2911T>G | |
2 | g.166277260A>G | CA349077989 | SCN1A-AS1,SCN9A | c.2597T>C (p.Leu866Pro) c.2564T>C (p.Leu855Pro) c.254T>C (p.Leu85Pro) c.1599T>C n.1029+13A>G c.2210T>C (p.Leu737Pro) c.1853T>C (p.Leu618Pro) n.2911T>C | |
2 | g.166277260A>T | CA349077990 | SCN1A-AS1,SCN9A | c.2597T>A (p.Leu866Gln) c.2564T>A (p.Leu855Gln) c.254T>A (p.Leu85Gln) c.1599T>A n.1029+13A>T c.2210T>A (p.Leu737Gln) c.1853T>A (p.Leu618Gln) n.2911T>A | |
2 | g.166277261G>A | CA429978204 | SCN1A-AS1,SCN9A | c.2596C>T (p.Leu866=) c.2563C>T (p.Leu855=) c.253C>T (p.Leu85=) c.1598C>T n.1029+14G>A c.2209C>T (p.Leu737=) c.1852C>T (p.Leu618=) n.2910C>T | |
2 | g.166277261G>C | CA349077991 | SCN1A-AS1,SCN9A | c.2596C>G (p.Leu866Val) c.2563C>G (p.Leu855Val) c.253C>G (p.Leu85Val) c.1598C>G n.1029+14G>C c.2209C>G (p.Leu737Val) c.1852C>G (p.Leu618Val) n.2910C>G | ClinVar dbSNP |
2 | g.166277261G= | CA1304965412 | SCN1A-AS1,SCN9A | c.2596C= (p.Leu866=) c.2563C= (p.Leu855=) c.253C= (p.Leu85=) c.1598C= n.1029+14G= c.2209C= (p.Leu737=) c.1852C= (p.Leu618=) n.2910C= | |
2 | g.166277261G>T | CA349077992 | SCN1A-AS1,SCN9A | c.2596C>A (p.Leu866Ile) c.2563C>A (p.Leu855Ile) c.253C>A (p.Leu85Ile) c.1598C>A n.1029+14G>T c.2209C>A (p.Leu737Ile) c.1852C>A (p.Leu618Ile) n.2910C>A | |
2 | g.166277262A= | CA1304965423 | SCN1A-AS1,SCN9A | c.2595T= (p.Ala865=) c.2562T= (p.Ala854=) c.252T= (p.Ala84=) c.1597T= n.1029+15A= c.2208T= (p.Ala736=) c.1851T= (p.Ala617=) n.2909T= | |
2 | g.166277262A>C | CA429978205 | SCN1A-AS1,SCN9A | c.2595T>G (p.Ala865=) c.2562T>G (p.Ala854=) c.252T>G (p.Ala84=) c.1597T>G n.1029+15A>C c.2208T>G (p.Ala736=) c.1851T>G (p.Ala617=) n.2909T>G | |
2 | g.166277262A>G | CA429978206 | SCN1A-AS1,SCN9A | c.2595T>C (p.Ala865=) c.2562T>C (p.Ala854=) c.252T>C (p.Ala84=) c.1597T>C n.1029+15A>G c.2208T>C (p.Ala736=) c.1851T>C (p.Ala617=) n.2909T>C | dbSNP gnomAD v4 |
2 | g.166277262A>T | CA429978207 | SCN1A-AS1,SCN9A | c.2595T>A (p.Ala865=) c.2562T>A (p.Ala854=) c.252T>A (p.Ala84=) c.1597T>A n.1029+15A>T c.2208T>A (p.Ala736=) c.1851T>A (p.Ala617=) n.2909T>A | ClinVar dbSNP gnomAD v4 |
2 | g.166277263G>A | CA349077993 | SCN1A-AS1,SCN9A | c.2594C>T (p.Ala865Val) c.2561C>T (p.Ala854Val) c.251C>T (p.Ala84Val) c.1596C>T n.1029+16G>A c.2207C>T (p.Ala736Val) c.1850C>T (p.Ala617Val) n.2908C>T | |
2 | g.166277263G>C | CA349077995 | SCN1A-AS1,SCN9A | c.2594C>G (p.Ala865Gly) c.2561C>G (p.Ala854Gly) c.251C>G (p.Ala84Gly) c.1596C>G n.1029+16G>C c.2207C>G (p.Ala736Gly) c.1850C>G (p.Ala617Gly) n.2908C>G | |
2 | g.166277263G>T | CA349077994 | SCN1A-AS1,SCN9A | c.2594C>A (p.Ala865Asp) c.2561C>A (p.Ala854Asp) c.251C>A (p.Ala84Asp) c.1596C>A n.1029+16G>T c.2207C>A (p.Ala736Asp) c.1850C>A (p.Ala617Asp) n.2908C>A | |
2 | g.166277264C>A | CA349077996 | SCN1A-AS1,SCN9A | c.2593G>T (p.Ala865Ser) c.2560G>T (p.Ala854Ser) c.250G>T (p.Ala84Ser) c.1595G>T n.1029+17C>A c.2206G>T (p.Ala736Ser) c.1849G>T (p.Ala617Ser) n.2907G>T | gnomAD v4 |
2 | g.166277264C>G | CA349077998 | SCN1A-AS1,SCN9A | c.2593G>C (p.Ala865Pro) c.2560G>C (p.Ala854Pro) c.250G>C (p.Ala84Pro) c.1595G>C n.1029+17C>G c.2206G>C (p.Ala736Pro) c.1849G>C (p.Ala617Pro) n.2907G>C | ClinVar gnomAD v4 |
2 | g.166277264C>T | CA349077997 | SCN1A-AS1,SCN9A | c.2593G>A (p.Ala865Thr) c.2560G>A (p.Ala854Thr) c.250G>A (p.Ala84Thr) c.1595G>A n.1029+17C>T c.2206G>A (p.Ala736Thr) c.1849G>A (p.Ala617Thr) n.2907G>A | |
2 | g.166277265C>A | CA429978208 | SCN1A-AS1,SCN9A | c.2592G>T (p.Gly864=) c.2559G>T (p.Gly853=) c.249G>T (p.Gly83=) c.1594G>T n.1029+18C>A c.2205G>T (p.Gly735=) c.1848G>T (p.Gly616=) n.2906G>T | dbSNP gnomAD v4 |
2 | g.166277265C= | CA1304965435 | SCN1A-AS1,SCN9A | c.2592G= (p.Gly864=) c.2559G= (p.Gly853=) c.249G= (p.Gly83=) c.1594G= n.1029+18C= c.2205G= (p.Gly735=) c.1848G= (p.Gly616=) n.2906G= | |
2 | g.166277265C>G | CA429978209 | SCN1A-AS1,SCN9A | c.2592G>C (p.Gly864=) c.2559G>C (p.Gly853=) c.249G>C (p.Gly83=) c.1594G>C n.1029+18C>G c.2205G>C (p.Gly735=) c.1848G>C (p.Gly616=) n.2906G>C | |
2 | g.166277265C>T | CA59794770 | SCN1A-AS1,SCN9A | c.2592G>A (p.Gly864=) c.2559G>A (p.Gly853=) c.249G>A (p.Gly83=) c.1594G>A n.1029+18C>T c.2205G>A (p.Gly735=) c.1848G>A (p.Gly616=) n.2906G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277266C>A | CA349078000 | SCN1A-AS1,SCN9A | c.2591G>T (p.Gly864Val) c.2558G>T (p.Gly853Val) c.248G>T (p.Gly83Val) c.1593G>T n.1029+19C>A c.2204G>T (p.Gly735Val) c.1847G>T (p.Gly616Val) n.2905G>T | |
2 | g.166277266C>G | CA349077999 | SCN1A-AS1,SCN9A | c.2591G>C (p.Gly864Ala) c.2558G>C (p.Gly853Ala) c.248G>C (p.Gly83Ala) c.1593G>C n.1029+19C>G c.2204G>C (p.Gly735Ala) c.1847G>C (p.Gly616Ala) n.2905G>C | |
2 | g.166277266C>T | CA349078001 | SCN1A-AS1,SCN9A | c.2591G>A (p.Gly864Glu) c.2558G>A (p.Gly853Glu) c.248G>A (p.Gly83Glu) c.1593G>A n.1029+19C>T c.2204G>A (p.Gly735Glu) c.1847G>A (p.Gly616Glu) n.2905G>A | gnomAD v4 |
2 | g.166277267C>A | CA349078002 | SCN1A-AS1,SCN9A | c.2590G>T (p.Gly864Trp) c.2557G>T (p.Gly853Trp) c.247G>T (p.Gly83Trp) c.1592G>T n.1029+20C>A c.2203G>T (p.Gly735Trp) c.1846G>T (p.Gly616Trp) n.2904G>T | gnomAD v4 |
2 | g.166277267C>G | CA349078004 | SCN1A-AS1,SCN9A | c.2590G>C (p.Gly864Arg) c.2557G>C (p.Gly853Arg) c.247G>C (p.Gly83Arg) c.1592G>C n.1029+20C>G c.2203G>C (p.Gly735Arg) c.1846G>C (p.Gly616Arg) n.2904G>C | |
2 | g.166277267C>T | CA349078003 | SCN1A-AS1,SCN9A | c.2590G>A (p.Gly864Arg) c.2557G>A (p.Gly853Arg) c.247G>A (p.Gly83Arg) c.1592G>A n.1029+20C>T c.2203G>A (p.Gly735Arg) c.1846G>A (p.Gly616Arg) n.2904G>A | |
2 | g.166277268T>A | CA429978210 | SCN1A-AS1,SCN9A | c.2589A>T (p.Val863=) c.2556A>T (p.Val852=) c.246A>T (p.Val82=) c.1591A>T n.1029+21T>A c.2202A>T (p.Val734=) c.1845A>T (p.Val615=) n.2903A>T | |
2 | g.166277268T>C | CA429978211 | SCN1A-AS1,SCN9A | c.2589A>G (p.Val863=) c.2556A>G (p.Val852=) c.246A>G (p.Val82=) c.1591A>G n.1029+21T>C c.2202A>G (p.Val734=) c.1845A>G (p.Val615=) n.2903A>G | COSMIC COSMIC |
2 | g.166277268T>G | CA429978212 | SCN1A-AS1,SCN9A | c.2589A>C (p.Val863=) c.2556A>C (p.Val852=) c.246A>C (p.Val82=) c.1591A>C n.1029+21T>G c.2202A>C (p.Val734=) c.1845A>C (p.Val615=) n.2903A>C | |
2 | g.166277269A>C | CA349078005 | SCN1A-AS1,SCN9A | c.2588T>G (p.Val863Gly) c.2555T>G (p.Val852Gly) c.245T>G (p.Val82Gly) c.1590T>G n.1029+22A>C c.2201T>G (p.Val734Gly) c.1844T>G (p.Val615Gly) n.2902T>G | |
2 | g.166277269A>G | CA349078006 | SCN1A-AS1,SCN9A | c.2588T>C (p.Val863Ala) c.2555T>C (p.Val852Ala) c.245T>C (p.Val82Ala) c.1590T>C n.1029+22A>G c.2201T>C (p.Val734Ala) c.1844T>C (p.Val615Ala) n.2902T>C | |
2 | g.166277269A>T | CA349078007 | SCN1A-AS1,SCN9A | c.2588T>A (p.Val863Glu) c.2555T>A (p.Val852Glu) c.245T>A (p.Val82Glu) c.1590T>A n.1029+22A>T c.2201T>A (p.Val734Glu) c.1844T>A (p.Val615Glu) n.2902T>A | |
2 | g.166277270C>A | CA349078008 | SCN1A-AS1,SCN9A | c.2587G>T (p.Val863Leu) c.2554G>T (p.Val852Leu) c.244G>T (p.Val82Leu) c.1589G>T n.1029+23C>A c.2200G>T (p.Val734Leu) c.1843G>T (p.Val615Leu) n.2901G>T | |
2 | g.166277270C= | CA1304965440 | SCN1A-AS1,SCN9A | c.2587G= (p.Val863=) c.2554G= (p.Val852=) c.244G= (p.Val82=) c.1589G= n.1029+23C= c.2200G= (p.Val734=) c.1843G= (p.Val615=) n.2901G= | |
2 | g.166277270C>G | CA59794775 | SCN1A-AS1,SCN9A | c.2587G>C (p.Val863Leu) c.2554G>C (p.Val852Leu) c.244G>C (p.Val82Leu) c.1589G>C n.1029+23C>G c.2200G>C (p.Val734Leu) c.1843G>C (p.Val615Leu) n.2901G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277270C>T | CA349078009 | SCN1A-AS1,SCN9A | c.2587G>A (p.Val863Ile) c.2554G>A (p.Val852Ile) c.244G>A (p.Val82Ile) c.1589G>A n.1029+23C>T c.2200G>A (p.Val734Ile) c.1843G>A (p.Val615Ile) n.2901G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.166277271T>A | CA429978213 | SCN1A-AS1,SCN9A | c.2586A>T (p.Ser862=) c.2553A>T (p.Ser851=) c.243A>T (p.Ser81=) c.1588A>T n.1029+24T>A c.2199A>T (p.Ser733=) c.1842A>T (p.Ser614=) n.2900A>T | COSMIC COSMIC |
2 | g.166277271T>C | CA429978215 | SCN1A-AS1,SCN9A | c.2586A>G (p.Ser862=) c.2553A>G (p.Ser851=) c.243A>G (p.Ser81=) c.1588A>G n.1029+24T>C c.2199A>G (p.Ser733=) c.1842A>G (p.Ser614=) n.2900A>G | |
2 | g.166277271T>G | CA429978214 | SCN1A-AS1,SCN9A | c.2586A>C (p.Ser862=) c.2553A>C (p.Ser851=) c.243A>C (p.Ser81=) c.1588A>C n.1029+24T>G c.2199A>C (p.Ser733=) c.1842A>C (p.Ser614=) n.2900A>C | |
2 | g.166277272G>A | CA349078010 | SCN1A-AS1,SCN9A | c.2585C>T (p.Ser862Leu) c.2552C>T (p.Ser851Leu) c.242C>T (p.Ser81Leu) c.1587C>T n.1029+25G>A c.2198C>T (p.Ser733Leu) c.1841C>T (p.Ser614Leu) n.2899C>T | |
2 | g.166277272G>C | CA349078011 | SCN1A-AS1,SCN9A | c.2585C>G (p.Ser862Ter) c.2552C>G (p.Ser851Ter) c.242C>G (p.Ser81Ter) c.1587C>G n.1029+25G>C c.2198C>G (p.Ser733Ter) c.1841C>G (p.Ser614Ter) n.2899C>G | |
2 | g.166277272G>T | CA349078012 | SCN1A-AS1,SCN9A | c.2585C>A (p.Ser862Ter) c.2552C>A (p.Ser851Ter) c.242C>A (p.Ser81Ter) c.1587C>A n.1029+25G>T c.2198C>A (p.Ser733Ter) c.1841C>A (p.Ser614Ter) n.2899C>A | gnomAD v4 |
2 | g.166277273A>C | CA349078013 | SCN1A-AS1,SCN9A | c.2584T>G (p.Ser862Ala) c.2551T>G (p.Ser851Ala) c.241T>G (p.Ser81Ala) c.1586T>G n.1029+26A>C c.2197T>G (p.Ser733Ala) c.1840T>G (p.Ser614Ala) n.2898T>G | |
2 | g.166277273A>G | CA349078014 | SCN1A-AS1,SCN9A | c.2584T>C (p.Ser862Pro) c.2551T>C (p.Ser851Pro) c.241T>C (p.Ser81Pro) c.1586T>C n.1029+26A>G c.2197T>C (p.Ser733Pro) c.1840T>C (p.Ser614Pro) n.2898T>C | |
2 | g.166277273A>T | CA349078015 | SCN1A-AS1,SCN9A | c.2584T>A (p.Ser862Thr) c.2551T>A (p.Ser851Thr) c.241T>A (p.Ser81Thr) c.1586T>A n.1029+26A>T c.2197T>A (p.Ser733Thr) c.1840T>A (p.Ser614Thr) n.2898T>A | |
2 | g.166277274G>A | CA59794790 | SCN1A-AS1,SCN9A | c.2583C>T (p.Asn861=) c.2550C>T (p.Asn850=) c.240C>T (p.Asn80=) c.1585C>T n.1029+27G>A c.2196C>T (p.Asn732=) c.1839C>T (p.Asn613=) n.2897C>T | dbSNP |
2 | g.166277274G>C | CA349078017 | SCN1A-AS1,SCN9A | c.2583C>G (p.Asn861Lys) c.2550C>G (p.Asn850Lys) c.240C>G (p.Asn80Lys) c.1585C>G n.1029+27G>C c.2196C>G (p.Asn732Lys) c.1839C>G (p.Asn613Lys) n.2897C>G | |
2 | g.166277274G= | CA1304965448 | SCN1A-AS1,SCN9A | c.2583C= (p.Asn861=) c.2550C= (p.Asn850=) c.240C= (p.Asn80=) c.1585C= n.1029+27G= c.2196C= (p.Asn732=) c.1839C= (p.Asn613=) n.2897C= | |
2 | g.166277274G>T | CA349078016 | SCN1A-AS1,SCN9A | c.2583C>A (p.Asn861Lys) c.2550C>A (p.Asn850Lys) c.240C>A (p.Asn80Lys) c.1585C>A n.1029+27G>T c.2196C>A (p.Asn732Lys) c.1839C>A (p.Asn613Lys) n.2897C>A | |
2 | g.166277275T>A | CA349078018 | SCN1A-AS1,SCN9A | c.2582A>T (p.Asn861Ile) c.2549A>T (p.Asn850Ile) c.239A>T (p.Asn80Ile) c.1584A>T n.1029+28T>A c.2195A>T (p.Asn732Ile) c.1838A>T (p.Asn613Ile) n.2896A>T | |
2 | g.166277275T>C | CA349078019 | SCN1A-AS1,SCN9A | c.2582A>G (p.Asn861Ser) c.2549A>G (p.Asn850Ser) c.239A>G (p.Asn80Ser) c.1584A>G n.1029+28T>C c.2195A>G (p.Asn732Ser) c.1838A>G (p.Asn613Ser) n.2896A>G | |
2 | g.166277275T>G | CA349078020 | SCN1A-AS1,SCN9A | c.2582A>C (p.Asn861Thr) c.2549A>C (p.Asn850Thr) c.239A>C (p.Asn80Thr) c.1584A>C n.1029+28T>G c.2195A>C (p.Asn732Thr) c.1838A>C (p.Asn613Thr) n.2896A>C | |
2 | g.166277275_166277276insG | CA2502498712 | SCN1A-AS1,SCN9A | c.2581_2582insC (p.Asn861ThrfsTer8) c.2548_2549insC (p.Asn850ThrfsTer8) c.238_239insC (p.Asn80ThrfsTer8) c.1583_1584insC n.1029+28_1029+29insG c.2194_2195insC (p.Asn732ThrfsTer8) c.1837_1838insC (p.Asn613ThrfsTer8) n.2895_2896insC | |
2 | g.166277276T>A | CA349078021 | SCN1A-AS1,SCN9A | c.2581A>T (p.Asn861Tyr) c.2548A>T (p.Asn850Tyr) c.238A>T (p.Asn80Tyr) c.1583A>T n.1029+29T>A c.2194A>T (p.Asn732Tyr) c.1837A>T (p.Asn613Tyr) n.2895A>T | |
2 | g.166277276T>C | CA349078022 | SCN1A-AS1,SCN9A | c.2581A>G (p.Asn861Asp) c.2548A>G (p.Asn850Asp) c.238A>G (p.Asn80Asp) c.1583A>G n.1029+29T>C c.2194A>G (p.Asn732Asp) c.1837A>G (p.Asn613Asp) n.2895A>G | |
2 | g.166277276T>G | CA349078023 | SCN1A-AS1,SCN9A | c.2581A>C (p.Asn861His) c.2548A>C (p.Asn850His) c.238A>C (p.Asn80His) c.1583A>C n.1029+29T>G c.2194A>C (p.Asn732His) c.1837A>C (p.Asn613His) n.2895A>C | |
2 | g.166277277A>C | CA429978216 | SCN1A-AS1,SCN9A | c.2580T>G (p.Gly860=) c.2547T>G (p.Gly849=) c.237T>G (p.Gly79=) c.1582T>G n.1029+30A>C c.2193T>G (p.Gly731=) c.1836T>G (p.Gly612=) n.2894T>G | |
2 | g.166277277A>G | CA429978217 | SCN1A-AS1,SCN9A | c.2580T>C (p.Gly860=) c.2547T>C (p.Gly849=) c.237T>C (p.Gly79=) c.1582T>C n.1029+30A>G c.2193T>C (p.Gly731=) c.1836T>C (p.Gly612=) n.2894T>C | |
2 | g.166277277A>T | CA429978218 | SCN1A-AS1,SCN9A | c.2580T>A (p.Gly860=) c.2547T>A (p.Gly849=) c.237T>A (p.Gly79=) c.1582T>A n.1029+30A>T c.2193T>A (p.Gly731=) c.1836T>A (p.Gly612=) n.2894T>A | |
2 | g.166277278C>A | CA349078024 | SCN1A-AS1,SCN9A | c.2579G>T (p.Gly860Val) c.2546G>T (p.Gly849Val) c.236G>T (p.Gly79Val) c.1581G>T n.1029+31C>A c.2192G>T (p.Gly731Val) c.1835G>T (p.Gly612Val) n.2893G>T | |
2 | g.166277278C>G | CA349078025 | SCN1A-AS1,SCN9A | c.2579G>C (p.Gly860Ala) c.2546G>C (p.Gly849Ala) c.236G>C (p.Gly79Ala) c.1581G>C n.1029+31C>G c.2192G>C (p.Gly731Ala) c.1835G>C (p.Gly612Ala) n.2893G>C | |
2 | g.166277278C>T | CA349078026 | SCN1A-AS1,SCN9A | c.2579G>A (p.Gly860Asp) c.2546G>A (p.Gly849Asp) c.236G>A (p.Gly79Asp) c.1581G>A n.1029+31C>T c.2192G>A (p.Gly731Asp) c.1835G>A (p.Gly612Asp) n.2893G>A | |
2 | g.166277279del | CA2577144991 | SCN1A-AS1,SCN9A | c.2579del (p.Gly860ValfsTer4) c.2546del (p.Gly849ValfsTer4) c.236del (p.Gly79ValfsTer4) c.1581del n.1029+32del c.2192del (p.Gly731ValfsTer4) c.1835del (p.Gly612ValfsTer4) n.2893del | gnomAD v4 |
2 | g.166277279C>A | CA349078029 | SCN1A-AS1,SCN9A | c.2578G>T (p.Gly860Cys) c.2545G>T (p.Gly849Cys) c.235G>T (p.Gly79Cys) c.1580G>T n.1029+32C>A c.2191G>T (p.Gly731Cys) c.1834G>T (p.Gly612Cys) n.2892G>T | |
2 | g.166277279C>G | CA349078028 | SCN1A-AS1,SCN9A | c.2578G>C (p.Gly860Arg) c.2545G>C (p.Gly849Arg) c.235G>C (p.Gly79Arg) c.1580G>C n.1029+32C>G c.2191G>C (p.Gly731Arg) c.1834G>C (p.Gly612Arg) n.2892G>C | |
2 | g.166277279C>T | CA349078027 | SCN1A-AS1,SCN9A | c.2578G>A (p.Gly860Ser) c.2545G>A (p.Gly849Ser) c.235G>A (p.Gly79Ser) c.1580G>A n.1029+32C>T c.2191G>A (p.Gly731Ser) c.1834G>A (p.Gly612Ser) n.2892G>A | |
2 | g.166277279_166277280delinsCA | CA1304965452 | SCN1A-AS1,SCN9A | c.2577_2578delinsTG (p.Ile859=) c.2544_2545delinsTG (p.Ile848=) c.234_235delinsTG (p.Ile78=) c.1579_1580delinsTG n.1029+32_1029+33delinsCA c.2190_2191delinsTG (p.Ile730=) c.1833_1834delinsTG (p.Ile611=) n.2891_2892delinsTG | |
2 | g.166277280A>C | CA349078030 | SCN1A-AS1,SCN9A | c.2577T>G (p.Ile859Met) c.2544T>G (p.Ile848Met) c.234T>G (p.Ile78Met) c.1579T>G n.1029+33A>C c.2190T>G (p.Ile730Met) c.1833T>G (p.Ile611Met) n.2891T>G | |
2 | g.166277280A>G | CA429978220 | SCN1A-AS1,SCN9A | c.2577T>C (p.Ile859=) c.2544T>C (p.Ile848=) c.234T>C (p.Ile78=) c.1579T>C n.1029+33A>G c.2190T>C (p.Ile730=) c.1833T>C (p.Ile611=) n.2891T>C | |
2 | g.166277280A>T | CA429978219 | SCN1A-AS1,SCN9A | c.2577T>A (p.Ile859=) c.2544T>A (p.Ile848=) c.234T>A (p.Ile78=) c.1579T>A n.1029+33A>T c.2190T>A (p.Ile730=) c.1833T>A (p.Ile611=) n.2891T>A | gnomAD v4 |
2 | g.166277281del | CA1944236 | SCN1A-AS1,SCN9A | c.2577del (p.Ile859MetfsTer5) c.2544del (p.Ile848MetfsTer5) c.234del (p.Ile78MetfsTer5) c.1579del n.1029+34del c.2190del (p.Ile730MetfsTer5) c.1833del (p.Ile611MetfsTer5) n.2891del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277281A= | CA1304965477 | SCN1A-AS1,SCN9A | c.2576T= (p.Ile859=) c.2543T= (p.Ile848=) c.233T= (p.Ile78=) c.1578T= n.1029+34A= c.2189T= (p.Ile730=) c.1832T= (p.Ile611=) n.2890T= | |
2 | g.166277281A>C | CA349078031 | SCN1A-AS1,SCN9A | c.2576T>G (p.Ile859Ser) c.2543T>G (p.Ile848Ser) c.233T>G (p.Ile78Ser) c.1578T>G n.1029+34A>C c.2189T>G (p.Ile730Ser) c.1832T>G (p.Ile611Ser) n.2890T>G | |
2 | g.166277281A>G | CA340545 | SCN1A-AS1,SCN9A | c.2576T>C (p.Ile859Thr) c.2543T>C (p.Ile848Thr) c.233T>C (p.Ile78Thr) c.1578T>C n.1029+34A>G c.2189T>C (p.Ile730Thr) c.1832T>C (p.Ile611Thr) n.2890T>C | ClinVar dbSNP COSMIC COSMIC |
2 | g.166277281A>T | CA349078032 | SCN1A-AS1,SCN9A | c.2576T>A (p.Ile859Asn) c.2543T>A (p.Ile848Asn) c.233T>A (p.Ile78Asn) c.1578T>A n.1029+34A>T c.2189T>A (p.Ile730Asn) c.1832T>A (p.Ile611Asn) n.2890T>A | |
2 | g.166277282T>A | CA349078033 | SCN1A-AS1,SCN9A | c.2575A>T (p.Ile859Phe) c.2542A>T (p.Ile848Phe) c.232A>T (p.Ile78Phe) c.1577A>T n.1029+35T>A c.2188A>T (p.Ile730Phe) c.1831A>T (p.Ile611Phe) n.2889A>T | |
2 | g.166277282T>C | CA349078034 | SCN1A-AS1,SCN9A | c.2575A>G (p.Ile859Val) c.2542A>G (p.Ile848Val) c.232A>G (p.Ile78Val) c.1577A>G n.1029+35T>C c.2188A>G (p.Ile730Val) c.1831A>G (p.Ile611Val) n.2889A>G | |
2 | g.166277282T>G | CA349078035 | SCN1A-AS1,SCN9A | c.2575A>C (p.Ile859Leu) c.2542A>C (p.Ile848Leu) c.232A>C (p.Ile78Leu) c.1577A>C n.1029+35T>G c.2188A>C (p.Ile730Leu) c.1831A>C (p.Ile611Leu) n.2889A>C | |
2 | g.166277283G>A | CA429978221 | SCN1A-AS1,SCN9A | c.2574C>T (p.Ile858=) c.2541C>T (p.Ile847=) c.231C>T (p.Ile77=) c.1576C>T n.1029+36G>A c.2187C>T (p.Ile729=) c.1830C>T (p.Ile610=) n.2888C>T | |
2 | g.166277283G>C | CA349078036 | SCN1A-AS1,SCN9A | c.2574C>G (p.Ile858Met) c.2541C>G (p.Ile847Met) c.231C>G (p.Ile77Met) c.1576C>G n.1029+36G>C c.2187C>G (p.Ile729Met) c.1830C>G (p.Ile610Met) n.2888C>G | |
2 | g.166277283G= | CA1304965486 | SCN1A-AS1,SCN9A | c.2574C= (p.Ile858=) c.2541C= (p.Ile847=) c.231C= (p.Ile77=) c.1576C= n.1029+36G= c.2187C= (p.Ile729=) c.1830C= (p.Ile610=) n.2888C= | |
2 | g.166277283G>T | CA429978222 | SCN1A-AS1,SCN9A | c.2574C>A (p.Ile858=) c.2541C>A (p.Ile847=) c.231C>A (p.Ile77=) c.1576C>A n.1029+36G>T c.2187C>A (p.Ile729=) c.1830C>A (p.Ile610=) n.2888C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277284A>C | CA349078037 | SCN1A-AS1,SCN9A | c.2573T>G (p.Ile858Ser) c.2540T>G (p.Ile847Ser) c.230T>G (p.Ile77Ser) c.1575T>G n.1029+37A>C c.2186T>G (p.Ile729Ser) c.1829T>G (p.Ile610Ser) n.2887T>G | |
2 | g.166277284A>G | CA349078038 | SCN1A-AS1,SCN9A | c.2573T>C (p.Ile858Thr) c.2540T>C (p.Ile847Thr) c.230T>C (p.Ile77Thr) c.1575T>C n.1029+37A>G c.2186T>C (p.Ile729Thr) c.1829T>C (p.Ile610Thr) n.2887T>C | |
2 | g.166277284A>T | CA349078039 | SCN1A-AS1,SCN9A | c.2573T>A (p.Ile858Asn) c.2540T>A (p.Ile847Asn) c.230T>A (p.Ile77Asn) c.1575T>A n.1029+37A>T c.2186T>A (p.Ile729Asn) c.1829T>A (p.Ile610Asn) n.2887T>A | |
2 | g.166277285T>A | CA349078041 | SCN1A-AS1,SCN9A | c.2572A>T (p.Ile858Phe) c.2539A>T (p.Ile847Phe) c.229A>T (p.Ile77Phe) c.1574A>T n.1029+38T>A c.2185A>T (p.Ile729Phe) c.1828A>T (p.Ile610Phe) n.2886A>T | |
2 | g.166277285T>C | CA59794805 | SCN1A-AS1,SCN9A | c.2572A>G (p.Ile858Val) c.2539A>G (p.Ile847Val) c.229A>G (p.Ile77Val) c.1574A>G n.1029+38T>C c.2185A>G (p.Ile729Val) c.1828A>G (p.Ile610Val) n.2886A>G | dbSNP |
2 | g.166277285T>G | CA349078040 | SCN1A-AS1,SCN9A | c.2572A>C (p.Ile858Leu) c.2539A>C (p.Ile847Leu) c.229A>C (p.Ile77Leu) c.1574A>C n.1029+38T>G c.2185A>C (p.Ile729Leu) c.1828A>C (p.Ile610Leu) n.2886A>C | |
2 | g.166277285T= | CA1304965498 | SCN1A-AS1,SCN9A | c.2572A= (p.Ile858=) c.2539A= (p.Ile847=) c.229A= (p.Ile77=) c.1574A= n.1029+38T= c.2185A= (p.Ile729=) c.1828A= (p.Ile610=) n.2886A= | |
2 | g.166277286C>A | CA349078042 | SCN1A-AS1,SCN9A | c.2571G>T (p.Lys857Asn) c.2538G>T (p.Lys846Asn) c.228G>T (p.Lys76Asn) c.1573G>T n.1029+39C>A c.2184G>T (p.Lys728Asn) c.1827G>T (p.Lys609Asn) n.2885G>T | |
2 | g.166277286C>G | CA349078043 | SCN1A-AS1,SCN9A | c.2571G>C (p.Lys857Asn) c.2538G>C (p.Lys846Asn) c.228G>C (p.Lys76Asn) c.1573G>C n.1029+39C>G c.2184G>C (p.Lys728Asn) c.1827G>C (p.Lys609Asn) n.2885G>C | |
2 | g.166277286C>T | CA429978223 | SCN1A-AS1,SCN9A | c.2571G>A (p.Lys857=) c.2538G>A (p.Lys846=) c.228G>A (p.Lys76=) c.1573G>A n.1029+39C>T c.2184G>A (p.Lys728=) c.1827G>A (p.Lys609=) n.2885G>A | |
2 | g.166277287T>A | CA349078044 | SCN1A-AS1,SCN9A | c.2570A>T (p.Lys857Met) c.2537A>T (p.Lys846Met) c.227A>T (p.Lys76Met) c.1572A>T n.1029+40T>A c.2183A>T (p.Lys728Met) c.1826A>T (p.Lys609Met) n.2884A>T | |
2 | g.166277287T>C | CA349078045 | SCN1A-AS1,SCN9A | c.2570A>G (p.Lys857Arg) c.2537A>G (p.Lys846Arg) c.227A>G (p.Lys76Arg) c.1572A>G n.1029+40T>C c.2183A>G (p.Lys728Arg) c.1826A>G (p.Lys609Arg) n.2884A>G | |
2 | g.166277287T>G | CA349078046 | SCN1A-AS1,SCN9A | c.2570A>C (p.Lys857Thr) c.2537A>C (p.Lys846Thr) c.227A>C (p.Lys76Thr) c.1572A>C n.1029+40T>G c.2183A>C (p.Lys728Thr) c.1826A>C (p.Lys609Thr) n.2884A>C | |
2 | g.166277288T>A | CA349078047 | SCN1A-AS1,SCN9A | c.2569A>T (p.Lys857Ter) c.2536A>T (p.Lys846Ter) c.226A>T (p.Lys76Ter) c.1571A>T n.1029+41T>A c.2182A>T (p.Lys728Ter) c.1825A>T (p.Lys609Ter) n.2883A>T | dbSNP |
2 | g.166277288T>C | CA349078048 | SCN1A-AS1,SCN9A | c.2569A>G (p.Lys857Glu) c.2536A>G (p.Lys846Glu) c.226A>G (p.Lys76Glu) c.1571A>G n.1029+41T>C c.2182A>G (p.Lys728Glu) c.1825A>G (p.Lys609Glu) n.2883A>G | |
2 | g.166277288T>G | CA349078049 | SCN1A-AS1,SCN9A | c.2569A>C (p.Lys857Gln) c.2536A>C (p.Lys846Gln) c.226A>C (p.Lys76Gln) c.1571A>C n.1029+41T>G c.2182A>C (p.Lys728Gln) c.1825A>C (p.Lys609Gln) n.2883A>C | |
2 | g.166277288T= | CA1304965506 | SCN1A-AS1,SCN9A | c.2569A= (p.Lys857=) c.2536A= (p.Lys846=) c.226A= (p.Lys76=) c.1571A= n.1029+41T= c.2182A= (p.Lys728=) c.1825A= (p.Lys609=) n.2883A= | |
2 | g.166277289A= | CA1304965512 | SCN1A-AS1,SCN9A | c.2568T= (p.Ile856=) c.2535T= (p.Ile845=) c.225T= (p.Ile75=) c.1570T= n.1029+42A= c.2181T= (p.Ile727=) c.1824T= (p.Ile608=) n.2882T= | |
2 | g.166277289A>C | CA349078050 | SCN1A-AS1,SCN9A | c.2568T>G (p.Ile856Met) c.2535T>G (p.Ile845Met) c.225T>G (p.Ile75Met) c.1570T>G n.1029+42A>C c.2181T>G (p.Ile727Met) c.1824T>G (p.Ile608Met) n.2882T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277289A>G | CA429978224 | SCN1A-AS1,SCN9A | c.2568T>C (p.Ile856=) c.2535T>C (p.Ile845=) c.225T>C (p.Ile75=) c.1570T>C n.1029+42A>G c.2181T>C (p.Ile727=) c.1824T>C (p.Ile608=) n.2882T>C | |
2 | g.166277289A>T | CA429978225 | SCN1A-AS1,SCN9A | c.2568T>A (p.Ile856=) c.2535T>A (p.Ile845=) c.225T>A (p.Ile75=) c.1570T>A n.1029+42A>T c.2181T>A (p.Ile727=) c.1824T>A (p.Ile608=) n.2882T>A | |
2 | g.166277290A= | CA1304965518 | SCN1A-AS1,SCN9A | c.2567T= (p.Ile856=) c.2534T= (p.Ile845=) c.224T= (p.Ile75=) c.1569T= n.1029+43A= c.2180T= (p.Ile727=) c.1823T= (p.Ile608=) n.2881T= | |
2 | g.166277290A>C | CA349078051 | SCN1A-AS1,SCN9A | c.2567T>G (p.Ile856Ser) c.2534T>G (p.Ile845Ser) c.224T>G (p.Ile75Ser) c.1569T>G n.1029+43A>C c.2180T>G (p.Ile727Ser) c.1823T>G (p.Ile608Ser) n.2881T>G | |
2 | g.166277290A>G | CA59794809 | SCN1A-AS1,SCN9A | c.2567T>C (p.Ile856Thr) c.2534T>C (p.Ile845Thr) c.224T>C (p.Ile75Thr) c.1569T>C n.1029+43A>G c.2180T>C (p.Ile727Thr) c.1823T>C (p.Ile608Thr) n.2881T>C | dbSNP gnomAD v4 |
2 | g.166277290A>T | CA349078052 | SCN1A-AS1,SCN9A | c.2567T>A (p.Ile856Asn) c.2534T>A (p.Ile845Asn) c.224T>A (p.Ile75Asn) c.1569T>A n.1029+43A>T c.2180T>A (p.Ile727Asn) c.1823T>A (p.Ile608Asn) n.2881T>A | |
2 | g.166277291T>A | CA349078054 | SCN1A-AS1,SCN9A | c.2566A>T (p.Ile856Phe) c.2533A>T (p.Ile845Phe) c.223A>T (p.Ile75Phe) c.1568A>T n.1029+44T>A c.2179A>T (p.Ile727Phe) c.1822A>T (p.Ile608Phe) n.2880A>T | |
2 | g.166277291T>C | CA349078055 | SCN1A-AS1,SCN9A | c.2566A>G (p.Ile856Val) c.2533A>G (p.Ile845Val) c.223A>G (p.Ile75Val) c.1568A>G n.1029+44T>C c.2179A>G (p.Ile727Val) c.1822A>G (p.Ile608Val) n.2880A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.166277291T>G | CA349078053 | SCN1A-AS1,SCN9A | c.2566A>C (p.Ile856Leu) c.2533A>C (p.Ile845Leu) c.223A>C (p.Ile75Leu) c.1568A>C n.1029+44T>G c.2179A>C (p.Ile727Leu) c.1822A>C (p.Ile608Leu) n.2880A>C | |
2 | g.166277291T= | CA1304965527 | SCN1A-AS1,SCN9A | c.2566A= (p.Ile856=) c.2533A= (p.Ile845=) c.223A= (p.Ile75=) c.1568A= n.1029+44T= c.2179A= (p.Ile727=) c.1822A= (p.Ile608=) n.2880A= | |
2 | g.166277292C>A | CA429978226 | SCN1A-AS1,SCN9A | c.2565G>T (p.Leu855=) c.2532G>T (p.Leu844=) c.222G>T (p.Leu74=) c.1567G>T n.1029+45C>A c.2178G>T (p.Leu726=) c.1821G>T (p.Leu607=) n.2879G>T | |
2 | g.166277292C= | CA1304965535 | SCN1A-AS1,SCN9A | c.2565G= (p.Leu855=) c.2532G= (p.Leu844=) c.222G= (p.Leu74=) c.1567G= n.1029+45C= c.2178G= (p.Leu726=) c.1821G= (p.Leu607=) n.2879G= | |
2 | g.166277292C>G | CA429978227 | SCN1A-AS1,SCN9A | c.2565G>C (p.Leu855=) c.2532G>C (p.Leu844=) c.222G>C (p.Leu74=) c.1567G>C n.1029+45C>G c.2178G>C (p.Leu726=) c.1821G>C (p.Leu607=) n.2879G>C | gnomAD v4 |
2 | g.166277292C>T | CA429978228 | SCN1A-AS1,SCN9A | c.2565G>A (p.Leu855=) c.2532G>A (p.Leu844=) c.222G>A (p.Leu74=) c.1567G>A n.1029+45C>T c.2178G>A (p.Leu726=) c.1821G>A (p.Leu607=) n.2879G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.166277293A>C | CA349078058 | SCN1A-AS1,SCN9A | c.2564T>G (p.Leu855Arg) c.2531T>G (p.Leu844Arg) c.221T>G (p.Leu74Arg) c.1566T>G n.1029+46A>C c.2177T>G (p.Leu726Arg) c.1820T>G (p.Leu607Arg) n.2878T>G | |
2 | g.166277293A>G | CA349078056 | SCN1A-AS1,SCN9A | c.2564T>C (p.Leu855Pro) c.2531T>C (p.Leu844Pro) c.221T>C (p.Leu74Pro) c.1566T>C n.1029+46A>G c.2177T>C (p.Leu726Pro) c.1820T>C (p.Leu607Pro) n.2878T>C | |
2 | g.166277293A>T | CA349078057 | SCN1A-AS1,SCN9A | c.2564T>A (p.Leu855Gln) c.2531T>A (p.Leu844Gln) c.221T>A (p.Leu74Gln) c.1566T>A n.1029+46A>T c.2177T>A (p.Leu726Gln) c.1820T>A (p.Leu607Gln) n.2878T>A | |
2 | g.166277294G>A | CA429978229 | SCN1A-AS1,SCN9A | c.2563C>T (p.Leu855=) c.2530C>T (p.Leu844=) c.220C>T (p.Leu74=) c.1565C>T n.1029+47G>A c.2176C>T (p.Leu726=) c.1819C>T (p.Leu607=) n.2877C>T | gnomAD v4 |
2 | g.166277294G>C | CA349078059 | SCN1A-AS1,SCN9A | c.2563C>G (p.Leu855Val) c.2530C>G (p.Leu844Val) c.220C>G (p.Leu74Val) c.1565C>G n.1029+47G>C c.2176C>G (p.Leu726Val) c.1819C>G (p.Leu607Val) n.2877C>G | |
2 | g.166277294G>T | CA349078060 | SCN1A-AS1,SCN9A | c.2563C>A (p.Leu855Met) c.2530C>A (p.Leu844Met) c.220C>A (p.Leu74Met) c.1565C>A n.1029+47G>T c.2176C>A (p.Leu726Met) c.1819C>A (p.Leu607Met) n.2877C>A | |
2 | g.166277295C>A | CA349078061 | SCN1A-AS1,SCN9A | c.2562G>T (p.Met854Ile) c.2529G>T (p.Met843Ile) c.219G>T (p.Met73Ile) c.1564G>T n.1029+48C>A c.2175G>T (p.Met725Ile) c.1818G>T (p.Met606Ile) n.2876G>T | |
2 | g.166277295C= | CA1304965541 | SCN1A-AS1,SCN9A | c.2562G= (p.Met854=) c.2529G= (p.Met843=) c.219G= (p.Met73=) c.1564G= n.1029+48C= c.2175G= (p.Met725=) c.1818G= (p.Met606=) n.2876G= | |
2 | g.166277295C>G | CA349078062 | SCN1A-AS1,SCN9A | c.2562G>C (p.Met854Ile) c.2529G>C (p.Met843Ile) c.219G>C (p.Met73Ile) c.1564G>C n.1029+48C>G c.2175G>C (p.Met725Ile) c.1818G>C (p.Met606Ile) n.2876G>C | |
2 | g.166277295C>T | CA349078063 | SCN1A-AS1,SCN9A | c.2562G>A (p.Met854Ile) c.2529G>A (p.Met843Ile) c.219G>A (p.Met73Ile) c.1564G>A n.1029+48C>T c.2175G>A (p.Met725Ile) c.1818G>A (p.Met606Ile) n.2876G>A | dbSNP gnomAD v4 |
2 | g.166277296A= | CA1304965543 | SCN1A-AS1,SCN9A | c.2561T= (p.Met854=) c.2528T= (p.Met843=) c.218T= (p.Met73=) c.1563T= n.1029+49A= c.2174T= (p.Met725=) c.1817T= (p.Met606=) n.2875T= | |
2 | g.166277296A>C | CA349078064 | SCN1A-AS1,SCN9A | c.2561T>G (p.Met854Arg) c.2528T>G (p.Met843Arg) c.218T>G (p.Met73Arg) c.1563T>G n.1029+49A>C c.2174T>G (p.Met725Arg) c.1817T>G (p.Met606Arg) n.2875T>G | |
2 | g.166277296A>G | CA59794827 | SCN1A-AS1,SCN9A | c.2561T>C (p.Met854Thr) c.2528T>C (p.Met843Thr) c.218T>C (p.Met73Thr) c.1563T>C n.1029+49A>G c.2174T>C (p.Met725Thr) c.1817T>C (p.Met606Thr) n.2875T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.166277296A>T | CA349078065 | SCN1A-AS1,SCN9A | c.2561T>A (p.Met854Lys) c.2528T>A (p.Met843Lys) c.218T>A (p.Met73Lys) c.1563T>A n.1029+49A>T c.2174T>A (p.Met725Lys) c.1817T>A (p.Met606Lys) n.2875T>A | |
2 | g.166277297T>A | CA349078066 | SCN1A-AS1,SCN9A | c.2560A>T (p.Met854Leu) c.2527A>T (p.Met843Leu) c.217A>T (p.Met73Leu) c.1562A>T n.1029+50T>A c.2173A>T (p.Met725Leu) c.1816A>T (p.Met606Leu) n.2874A>T | |
2 | g.166277297T>C | CA349078067 | SCN1A-AS1,SCN9A | c.2560A>G (p.Met854Val) c.2527A>G (p.Met843Val) c.217A>G (p.Met73Val) c.1562A>G n.1029+50T>C c.2173A>G (p.Met725Val) c.1816A>G (p.Met606Val) n.2874A>G | |
2 | g.166277297T>G | CA349078068 | SCN1A-AS1,SCN9A | c.2560A>C (p.Met854Leu) c.2527A>C (p.Met843Leu) c.217A>C (p.Met73Leu) c.1562A>C n.1029+50T>G c.2173A>C (p.Met725Leu) c.1816A>C (p.Met606Leu) n.2874A>C | |
2 | g.166277298G>A | CA1944237 | SCN1A-AS1,SCN9A | c.2559C>T (p.Asn853=) c.2526C>T (p.Asn842=) c.216C>T (p.Asn72=) c.1561C>T n.1029+51G>A c.2172C>T (p.Asn724=) c.1815C>T (p.Asn605=) n.2873C>T | ClinVar dbSNP ExAC gnomAD v4 |
2 | g.166277298G>C | CA349078069 | SCN1A-AS1,SCN9A | c.2559C>G (p.Asn853Lys) c.2526C>G (p.Asn842Lys) c.216C>G (p.Asn72Lys) c.1561C>G n.1029+51G>C c.2172C>G (p.Asn724Lys) c.1815C>G (p.Asn605Lys) n.2873C>G | |
2 | g.166277298G= | CA1304965548 | SCN1A-AS1,SCN9A | c.2559C= (p.Asn853=) c.2526C= (p.Asn842=) c.216C= (p.Asn72=) c.1561C= n.1029+51G= c.2172C= (p.Asn724=) c.1815C= (p.Asn605=) n.2873C= | |
2 | g.166277298G>T | CA349078070 | SCN1A-AS1,SCN9A | c.2559C>A (p.Asn853Lys) c.2526C>A (p.Asn842Lys) c.216C>A (p.Asn72Lys) c.1561C>A n.1029+51G>T c.2172C>A (p.Asn724Lys) c.1815C>A (p.Asn605Lys) n.2873C>A | |
2 | g.166277299T>A | CA349078071 | SCN1A-AS1,SCN9A | c.2558A>T (p.Asn853Ile) c.2525A>T (p.Asn842Ile) c.215A>T (p.Asn72Ile) c.1560A>T n.1029+52T>A c.2171A>T (p.Asn724Ile) c.1814A>T (p.Asn605Ile) n.2872A>T | gnomAD v4 |
2 | g.166277299T>C | CA349078072 | SCN1A-AS1,SCN9A | c.2558A>G (p.Asn853Ser) c.2525A>G (p.Asn842Ser) c.215A>G (p.Asn72Ser) c.1560A>G n.1029+52T>C c.2171A>G (p.Asn724Ser) c.1814A>G (p.Asn605Ser) n.2872A>G | |
2 | g.166277299T>G | CA349078073 | SCN1A-AS1,SCN9A | c.2558A>C (p.Asn853Thr) c.2525A>C (p.Asn842Thr) c.215A>C (p.Asn72Thr) c.1560A>C n.1029+52T>G c.2171A>C (p.Asn724Thr) c.1814A>C (p.Asn605Thr) n.2872A>C | |
2 | g.166277300T>A | CA349078074 | SCN1A-AS1,SCN9A | c.2557A>T (p.Asn853Tyr) c.2524A>T (p.Asn842Tyr) c.214A>T (p.Asn72Tyr) c.1559A>T n.1029+53T>A c.2170A>T (p.Asn724Tyr) c.1813A>T (p.Asn605Tyr) n.2871A>T | |
2 | g.166277300T>C | CA349078075 | SCN1A-AS1,SCN9A | c.2557A>G (p.Asn853Asp) c.2524A>G (p.Asn842Asp) c.214A>G (p.Asn72Asp) c.1559A>G n.1029+53T>C c.2170A>G (p.Asn724Asp) c.1813A>G (p.Asn605Asp) n.2871A>G | |
2 | g.166277300T>G | CA349078076 | SCN1A-AS1,SCN9A | c.2557A>C (p.Asn853His) c.2524A>C (p.Asn842His) c.214A>C (p.Asn72His) c.1559A>C n.1029+53T>G c.2170A>C (p.Asn724His) c.1813A>C (p.Asn605His) n.2871A>C |