Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166277206C>ACA349077882SCN1A-AS1,SCN9Ac.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
2g.166277206C>GCA349077883SCN1A-AS1,SCN9Ac.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
2g.166277206C>TCA349077881SCN1A-AS1,SCN9Ac.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
2g.166277207C>ACA349077885SCN1A-AS1,SCN9Ac.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
2g.166277207C=CA1304965171SCN1A-AS1,SCN9Ac.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=
2g.166277207C>GCA349077884SCN1A-AS1,SCN9Ac.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
2g.166277207C>TCA1944223SCN1A-AS1,SCN9Ac.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
2g.166277208G>ACA1944225SCN1A-AS1,SCN9Ac.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
2g.166277208G>CCA1944224SCN1A-AS1,SCN9Ac.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
2g.166277208G=CA1304965186SCN1A-AS1,SCN9Ac.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=
2g.166277208G>TCA429978371SCN1A-AS1,SCN9Ac.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
2g.166277209A=CA1304965208SCN1A-AS1,SCN9Ac.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=
2g.166277209A>CCA349077886SCN1A-AS1,SCN9Ac.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
2g.166277209A>GCA349077887SCN1A-AS1,SCN9Ac.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
2g.166277209A>TCA349077888SCN1A-AS1,SCN9Ac.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
2g.166277210C>ACA1944226SCN1A-AS1,SCN9Ac.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
2g.166277210C=CA1304965212SCN1A-AS1,SCN9Ac.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=
2g.166277210C>GCA349077889SCN1A-AS1,SCN9Ac.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
2g.166277210C>TCA349077890SCN1A-AS1,SCN9Ac.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
2g.166277211C>ACA429978376SCN1A-AS1,SCN9Ac.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
2g.166277211C>GCA429978378SCN1A-AS1,SCN9Ac.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
2g.166277211C>TCA429978377SCN1A-AS1,SCN9Ac.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
2g.166277212A>CCA349077891SCN1A-AS1,SCN9Ac.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
2g.166277212A>GCA349077892SCN1A-AS1,SCN9Ac.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
2g.166277212A>TCA349077893SCN1A-AS1,SCN9Ac.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
2g.166277213C>ACA349077895SCN1A-AS1,SCN9Ac.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
2g.166277213C=CA1304965217SCN1A-AS1,SCN9Ac.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=
2g.166277213C>GCA349077896SCN1A-AS1,SCN9Ac.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
2g.166277213C>TCA349077894SCN1A-AS1,SCN9Ac.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
2g.166277214A>CCA429978379SCN1A-AS1,SCN9Ac.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
2g.166277214A>GCA429978380SCN1A-AS1,SCN9Ac.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
2g.166277214A>TCA429978381SCN1A-AS1,SCN9Ac.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
2g.166277215G>ACA59794736SCN1A-AS1,SCN9Ac.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
2g.166277215G>CCA349077897SCN1A-AS1,SCN9Ac.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
2g.166277215G=CA1304965224SCN1A-AS1,SCN9Ac.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=
2g.166277215G>TCA349077898SCN1A-AS1,SCN9Ac.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
2g.166277216C>ACA349077899SCN1A-AS1,SCN9Ac.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
2g.166277216C>GCA349077900SCN1A-AS1,SCN9Ac.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
2g.166277216C>TCA349077901SCN1A-AS1,SCN9Ac.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
2g.166277217A>CCA349077902SCN1A-AS1,SCN9Ac.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
2g.166277217A>GCA429978383SCN1A-AS1,SCN9Ac.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
2g.166277217A>TCA349077903SCN1A-AS1,SCN9Ac.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
2g.166277221delCA645519734SCN1A-AS1,SCN9Ac.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
2g.166277218A>CCA349077904SCN1A-AS1,SCN9Ac.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
2g.166277218A>GCA349077905SCN1A-AS1,SCN9Ac.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
2g.166277218A>TCA349077906SCN1A-AS1,SCN9Ac.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
2g.166277219A>CCA349077907SCN1A-AS1,SCN9Ac.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
2g.166277219A>GCA349077908SCN1A-AS1,SCN9Ac.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
2g.166277219A>TCA349077909SCN1A-AS1,SCN9Ac.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
2g.166277220A>CCA349077910SCN1A-AS1,SCN9Ac.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
2g.166277220A>GCA429978385SCN1A-AS1,SCN9Ac.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
2g.166277220A>TCA429978387SCN1A-AS1,SCN9Ac.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
2g.166277221A=CA1304965233SCN1A-AS1,SCN9Ac.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=
2g.166277221A>CCA349077911SCN1A-AS1,SCN9Ac.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
2g.166277221A>GCA1944227SCN1A-AS1,SCN9Ac.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
2g.166277221A>TCA349077912SCN1A-AS1,SCN9Ac.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
2g.166277222T>ACA349077913SCN1A-AS1,SCN9Ac.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
2g.166277222T>CCA349077914SCN1A-AS1,SCN9Ac.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
2g.166277222T>GCA349077915SCN1A-AS1,SCN9Ac.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
2g.166277223G>ACA1944228SCN1A-AS1,SCN9Ac.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
2g.166277223G>CCA349077916SCN1A-AS1,SCN9Ac.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
2g.166277223G=CA1304965241SCN1A-AS1,SCN9Ac.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=
2g.166277223G>TCA349077917SCN1A-AS1,SCN9Ac.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
2g.166277224A=CA1304965249SCN1A-AS1,SCN9Ac.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=
2g.166277224A>CCA349077918SCN1A-AS1,SCN9Ac.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
2g.166277224A>GCA349077919SCN1A-AS1,SCN9Ac.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
2g.166277224A>TCA349077920SCN1A-AS1,SCN9Ac.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
2g.166277225A>CCA349077921SCN1A-AS1,SCN9Ac.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
2g.166277225A>GCA349077922SCN1A-AS1,SCN9Ac.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
2g.166277225A>TCA349077923SCN1A-AS1,SCN9Ac.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
2g.166277226G>ACA429978393SCN1A-AS1,SCN9Ac.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
2g.166277226G>CCA429978394SCN1A-AS1,SCN9Ac.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
2g.166277226G>TCA429978392SCN1A-AS1,SCN9Ac.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
2g.166277227A=CA1304965259SCN1A-AS1,SCN9Ac.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=
2g.166277227A>CCA349077926SCN1A-AS1,SCN9Ac.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
2g.166277227A>GCA349077925SCN1A-AS1,SCN9Ac.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
2g.166277227A>TCA349077924SCN1A-AS1,SCN9Ac.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
2g.166277228C>ACA1944230SCN1A-AS1,SCN9Ac.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
2g.166277228C=CA1304965272SCN1A-AS1,SCN9Ac.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=
2g.166277228C>GCA349077927SCN1A-AS1,SCN9Ac.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
2g.166277228C>TCA1944229SCN1A-AS1,SCN9Ac.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
2g.166277229G>ACA1944231SCN1A-AS1,SCN9Ac.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
2g.166277229G>CCA349077928SCN1A-AS1,SCN9Ac.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
2g.166277229G=CA1304965284SCN1A-AS1,SCN9Ac.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=
2g.166277229G>TCA429978397SCN1A-AS1,SCN9Ac.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
2g.166277230A>CCA349077929SCN1A-AS1,SCN9Ac.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
2g.166277230A>GCA349077930SCN1A-AS1,SCN9Ac.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
2g.166277230A>TCA349077931SCN1A-AS1,SCN9Ac.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
2g.166277231T>ACA349077932SCN1A-AS1,SCN9Ac.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
2g.166277231T>CCA349077933SCN1A-AS1,SCN9Ac.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
2g.166277231T>GCA349077934SCN1A-AS1,SCN9Ac.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
2g.166277231T=CA1304965288SCN1A-AS1,SCN9Ac.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=
2g.166277232G>ACA429978400SCN1A-AS1,SCN9Ac.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
2g.166277232G>CCA349077935SCN1A-AS1,SCN9Ac.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
2g.166277232G>TCA429978399SCN1A-AS1,SCN9Ac.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
2g.166277233A>CCA349077936SCN1A-AS1,SCN9Ac.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
2g.166277233A>GCA349077938SCN1A-AS1,SCN9Ac.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
2g.166277233A>TCA349077937SCN1A-AS1,SCN9Ac.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
2g.166277234T>ACA349077939SCN1A-AS1,SCN9Ac.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
2g.166277234T>CCA349077941SCN1A-AS1,SCN9Ac.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
2g.166277234T>GCA349077940SCN1A-AS1,SCN9Ac.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
2g.166277235G>ACA1944232SCN1A-AS1,SCN9Ac.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
2g.166277235G>CCA429978403SCN1A-AS1,SCN9Ac.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
2g.166277235G=CA1304965295SCN1A-AS1,SCN9Ac.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=
2g.166277235G>TCA429978404SCN1A-AS1,SCN9Ac.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
2g.166277236G>ACA59794752SCN1A-AS1,SCN9Ac.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
2g.166277236G>CCA349077942SCN1A-AS1,SCN9Ac.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
2g.166277236G=CA1304965300SCN1A-AS1,SCN9Ac.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=
2g.166277236G>TCA349077943SCN1A-AS1,SCN9Ac.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
2g.166277237C>ACA1944233SCN1A-AS1,SCN9Ac.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
2g.166277237C=CA1304965311SCN1A-AS1,SCN9Ac.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=
2g.166277237C>GCA341936SCN1A-AS1,SCN9Ac.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
2g.166277237C>TCA349077944SCN1A-AS1,SCN9Ac.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
2g.166277238C>ACA349077945SCN1A-AS1,SCN9Ac.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
2g.166277238C>GCA349077946SCN1A-AS1,SCN9Ac.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
2g.166277238C>TCA429978408SCN1A-AS1,SCN9Ac.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
2g.166277239A=CA1304965321SCN1A-AS1,SCN9Ac.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=
2g.166277239A>CCA349077947SCN1A-AS1,SCN9Ac.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
2g.166277239A>GCA349077948SCN1A-AS1,SCN9Ac.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
2g.166277239A>TCA349077949SCN1A-AS1,SCN9Ac.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
2g.166277240A>CCA349077951SCN1A-AS1,SCN9Ac.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
2g.166277240A>GCA429978413SCN1A-AS1,SCN9Ac.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
2g.166277240A>TCA349077950SCN1A-AS1,SCN9Ac.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
2g.166277241C>ACA429978414SCN1A-AS1,SCN9Ac.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
2g.166277241C=CA1304965326SCN1A-AS1,SCN9Ac.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=
2g.166277241C>GCA429978415SCN1A-AS1,SCN9Ac.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
2g.166277241C>TCA429978416SCN1A-AS1,SCN9Ac.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
2g.166277242A>CCA349077952SCN1A-AS1,SCN9Ac.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
2g.166277242A>GCA349077953SCN1A-AS1,SCN9Ac.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
2g.166277242A>TCA349077954SCN1A-AS1,SCN9Ac.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
2g.166277243C>ACA349077955SCN1A-AS1,SCN9Ac.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
2g.166277243C>GCA349077956SCN1A-AS1,SCN9Ac.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
2g.166277243C>TCA349077957SCN1A-AS1,SCN9Ac.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
2g.166277244T>ACA349077958SCN1A-AS1,SCN9Ac.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
2g.166277244T>CCA1944234SCN1A-AS1,SCN9Ac.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
2g.166277244T>GCA349077959SCN1A-AS1,SCN9Ac.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
2g.166277244T=CA1304965344SCN1A-AS1,SCN9Ac.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=
2g.166277245A>CCA349077960SCN1A-AS1,SCN9Ac.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
2g.166277245A>GCA349077961SCN1A-AS1,SCN9Ac.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
2g.166277245A>TCA349077962SCN1A-AS1,SCN9Ac.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
2g.166277246A>CCA349077964SCN1A-AS1,SCN9Ac.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
2g.166277246A>GCA429978422SCN1A-AS1,SCN9Ac.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
2g.166277246A>TCA349077963SCN1A-AS1,SCN9Ac.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
2g.166277247G>ACA429978424SCN1A-AS1,SCN9Ac.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
2g.166277247G>CCA429978425SCN1A-AS1,SCN9Ac.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
2g.166277247G>TCA429978426SCN1A-AS1,SCN9Ac.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
2g.166277248G>ACA349077965SCN1A-AS1,SCN9Ac.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
2g.166277248G>CCA349077967SCN1A-AS1,SCN9Ac.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
2g.166277248G>TCA349077966SCN1A-AS1,SCN9Ac.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
2g.166277249T>ACA349077968SCN1A-AS1,SCN9Ac.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
2g.166277249T>CCA349077969SCN1A-AS1,SCN9Ac.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
2g.166277249T>GCA349077970SCN1A-AS1,SCN9Ac.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
2g.166277250G>ACA429978430SCN1A-AS1,SCN9Ac.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
2g.166277250G>CCA429978431SCN1A-AS1,SCN9Ac.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
2g.166277250G>TCA429978432SCN1A-AS1,SCN9Ac.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
2g.166277251A=CA1304965354SCN1A-AS1,SCN9Ac.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=
2g.166277251A>CCA349077971SCN1A-AS1,SCN9Ac.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
2g.166277251A>GCA349077972SCN1A-AS1,SCN9Ac.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
2g.166277251A>TCA340542SCN1A-AS1,SCN9Ac.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
2g.166277252G>ACA340554SCN1A-AS1,SCN9Ac.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
2g.166277252G>CCA349077973SCN1A-AS1,SCN9Ac.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
2g.166277252G=CA1304965368SCN1A-AS1,SCN9Ac.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=
2g.166277252G>TCA349077974SCN1A-AS1,SCN9Ac.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
2g.166277253G>ACA429978198SCN1A-AS1,SCN9Ac.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
2g.166277253G>CCA349077975SCN1A-AS1,SCN9Ac.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
2g.166277253G>TCA349077976SCN1A-AS1,SCN9Ac.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
2g.166277254T>ACA349077979SCN1A-AS1,SCN9Ac.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
2g.166277254T>CCA349077978SCN1A-AS1,SCN9Ac.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
2g.166277254T>GCA349077977SCN1A-AS1,SCN9Ac.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
2g.166277254T=CA1304965375SCN1A-AS1,SCN9Ac.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=
2g.166277255T>ACA349077980SCN1A-AS1,SCN9Ac.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
2g.166277255T>CCA349077981SCN1A-AS1,SCN9Ac.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
2g.166277255T>GCA349077982SCN1A-AS1,SCN9Ac.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
2g.166277256A=CA1304965383SCN1A-AS1,SCN9Ac.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=
2g.166277256A>CCA429978199SCN1A-AS1,SCN9Ac.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
2g.166277256A>GCA429978200SCN1A-AS1,SCN9Ac.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
2g.166277256A>TCA1944235SCN1A-AS1,SCN9Ac.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
2g.166277257C>ACA349077983SCN1A-AS1,SCN9Ac.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
2g.166277257C=CA1304965397SCN1A-AS1,SCN9Ac.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=
2g.166277257C>GCA349077984SCN1A-AS1,SCN9Ac.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
2g.166277257C>TCA10584165SCN1A-AS1,SCN9Ac.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
2g.166277258C>ACA349077985SCN1A-AS1,SCN9Ac.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
2g.166277258C=CA1304965407SCN1A-AS1,SCN9Ac.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=
2g.166277258C>GCA349077986SCN1A-AS1,SCN9Ac.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
2g.166277258C>TCA349077987SCN1A-AS1,SCN9Ac.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
2g.166277259T>ACA429978201SCN1A-AS1,SCN9Ac.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
2g.166277259T>CCA429978203SCN1A-AS1,SCN9Ac.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
2g.166277259T>GCA429978202SCN1A-AS1,SCN9Ac.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
2g.166277260A>CCA349077988SCN1A-AS1,SCN9Ac.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
2g.166277260A>GCA349077989SCN1A-AS1,SCN9Ac.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
2g.166277260A>TCA349077990SCN1A-AS1,SCN9Ac.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
2g.166277261G>ACA429978204SCN1A-AS1,SCN9Ac.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
2g.166277261G>CCA349077991SCN1A-AS1,SCN9Ac.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
2g.166277261G=CA1304965412SCN1A-AS1,SCN9Ac.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=
2g.166277261G>TCA349077992SCN1A-AS1,SCN9Ac.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
2g.166277262A=CA1304965423SCN1A-AS1,SCN9Ac.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=
2g.166277262A>CCA429978205SCN1A-AS1,SCN9Ac.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
2g.166277262A>GCA429978206SCN1A-AS1,SCN9Ac.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
2g.166277262A>TCA429978207SCN1A-AS1,SCN9Ac.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
2g.166277263G>ACA349077993SCN1A-AS1,SCN9Ac.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
2g.166277263G>CCA349077995SCN1A-AS1,SCN9Ac.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
2g.166277263G>TCA349077994SCN1A-AS1,SCN9Ac.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
2g.166277264C>ACA349077996SCN1A-AS1,SCN9Ac.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
2g.166277264C>GCA349077998SCN1A-AS1,SCN9Ac.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
2g.166277264C>TCA349077997SCN1A-AS1,SCN9Ac.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
2g.166277265C>ACA429978208SCN1A-AS1,SCN9Ac.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
2g.166277265C=CA1304965435SCN1A-AS1,SCN9Ac.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=
2g.166277265C>GCA429978209SCN1A-AS1,SCN9Ac.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
2g.166277265C>TCA59794770SCN1A-AS1,SCN9Ac.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
2g.166277266C>ACA349078000SCN1A-AS1,SCN9Ac.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
2g.166277266C>GCA349077999SCN1A-AS1,SCN9Ac.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
2g.166277266C>TCA349078001SCN1A-AS1,SCN9Ac.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
2g.166277267C>ACA349078002SCN1A-AS1,SCN9Ac.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
2g.166277267C>GCA349078004SCN1A-AS1,SCN9Ac.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
2g.166277267C>TCA349078003SCN1A-AS1,SCN9Ac.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
2g.166277268T>ACA429978210SCN1A-AS1,SCN9Ac.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
2g.166277268T>CCA429978211SCN1A-AS1,SCN9Ac.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
2g.166277268T>GCA429978212SCN1A-AS1,SCN9Ac.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
2g.166277269A>CCA349078005SCN1A-AS1,SCN9Ac.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
2g.166277269A>GCA349078006SCN1A-AS1,SCN9Ac.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
2g.166277269A>TCA349078007SCN1A-AS1,SCN9Ac.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
2g.166277270C>ACA349078008SCN1A-AS1,SCN9Ac.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
2g.166277270C=CA1304965440SCN1A-AS1,SCN9Ac.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=
2g.166277270C>GCA59794775SCN1A-AS1,SCN9Ac.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
2g.166277270C>TCA349078009SCN1A-AS1,SCN9Ac.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
2g.166277271T>ACA429978213SCN1A-AS1,SCN9Ac.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
2g.166277271T>CCA429978215SCN1A-AS1,SCN9Ac.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
2g.166277271T>GCA429978214SCN1A-AS1,SCN9Ac.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
2g.166277272G>ACA349078010SCN1A-AS1,SCN9Ac.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
2g.166277272G>CCA349078011SCN1A-AS1,SCN9Ac.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
2g.166277272G>TCA349078012SCN1A-AS1,SCN9Ac.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
2g.166277273A>CCA349078013SCN1A-AS1,SCN9Ac.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
2g.166277273A>GCA349078014SCN1A-AS1,SCN9Ac.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
2g.166277273A>TCA349078015SCN1A-AS1,SCN9Ac.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
2g.166277274G>ACA59794790SCN1A-AS1,SCN9Ac.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
2g.166277274G>CCA349078017SCN1A-AS1,SCN9Ac.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
2g.166277274G=CA1304965448SCN1A-AS1,SCN9Ac.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=
2g.166277274G>TCA349078016SCN1A-AS1,SCN9Ac.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
2g.166277275T>ACA349078018SCN1A-AS1,SCN9Ac.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
2g.166277275T>CCA349078019SCN1A-AS1,SCN9Ac.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
2g.166277275T>GCA349078020SCN1A-AS1,SCN9Ac.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
2g.166277275_166277276insGCA2502498712SCN1A-AS1,SCN9Ac.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
2g.166277276T>ACA349078021SCN1A-AS1,SCN9Ac.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
2g.166277276T>CCA349078022SCN1A-AS1,SCN9Ac.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
2g.166277276T>GCA349078023SCN1A-AS1,SCN9Ac.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
2g.166277277A>CCA429978216SCN1A-AS1,SCN9Ac.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
2g.166277277A>GCA429978217SCN1A-AS1,SCN9Ac.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
2g.166277277A>TCA429978218SCN1A-AS1,SCN9Ac.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
2g.166277278C>ACA349078024SCN1A-AS1,SCN9Ac.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
2g.166277278C>GCA349078025SCN1A-AS1,SCN9Ac.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
2g.166277278C>TCA349078026SCN1A-AS1,SCN9Ac.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
2g.166277279delCA2577144991SCN1A-AS1,SCN9Ac.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
2g.166277279C>ACA349078029SCN1A-AS1,SCN9Ac.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
2g.166277279C>GCA349078028SCN1A-AS1,SCN9Ac.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
2g.166277279C>TCA349078027SCN1A-AS1,SCN9Ac.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
2g.166277279_166277280delinsCACA1304965452SCN1A-AS1,SCN9Ac.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
2g.166277280A>CCA349078030SCN1A-AS1,SCN9Ac.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
2g.166277280A>GCA429978220SCN1A-AS1,SCN9Ac.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
2g.166277280A>TCA429978219SCN1A-AS1,SCN9Ac.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
2g.166277281delCA1944236SCN1A-AS1,SCN9Ac.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
2g.166277281A=CA1304965477SCN1A-AS1,SCN9Ac.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=
2g.166277281A>CCA349078031SCN1A-AS1,SCN9Ac.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
2g.166277281A>GCA340545SCN1A-AS1,SCN9Ac.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
2g.166277281A>TCA349078032SCN1A-AS1,SCN9Ac.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
2g.166277282T>ACA349078033SCN1A-AS1,SCN9Ac.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
2g.166277282T>CCA349078034SCN1A-AS1,SCN9Ac.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
2g.166277282T>GCA349078035SCN1A-AS1,SCN9Ac.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
2g.166277283G>ACA429978221SCN1A-AS1,SCN9Ac.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
2g.166277283G>CCA349078036SCN1A-AS1,SCN9Ac.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
2g.166277283G=CA1304965486SCN1A-AS1,SCN9Ac.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=
2g.166277283G>TCA429978222SCN1A-AS1,SCN9Ac.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
2g.166277284A>CCA349078037SCN1A-AS1,SCN9Ac.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
2g.166277284A>GCA349078038SCN1A-AS1,SCN9Ac.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
2g.166277284A>TCA349078039SCN1A-AS1,SCN9Ac.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
2g.166277285T>ACA349078041SCN1A-AS1,SCN9Ac.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
2g.166277285T>CCA59794805SCN1A-AS1,SCN9Ac.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
2g.166277285T>GCA349078040SCN1A-AS1,SCN9Ac.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
2g.166277285T=CA1304965498SCN1A-AS1,SCN9Ac.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=
2g.166277286C>ACA349078042SCN1A-AS1,SCN9Ac.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
2g.166277286C>GCA349078043SCN1A-AS1,SCN9Ac.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
2g.166277286C>TCA429978223SCN1A-AS1,SCN9Ac.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
2g.166277287T>ACA349078044SCN1A-AS1,SCN9Ac.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
2g.166277287T>CCA349078045SCN1A-AS1,SCN9Ac.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
2g.166277287T>GCA349078046SCN1A-AS1,SCN9Ac.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
2g.166277288T>ACA349078047SCN1A-AS1,SCN9Ac.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
2g.166277288T>CCA349078048SCN1A-AS1,SCN9Ac.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
2g.166277288T>GCA349078049SCN1A-AS1,SCN9Ac.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
2g.166277288T=CA1304965506SCN1A-AS1,SCN9Ac.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=
2g.166277289A=CA1304965512SCN1A-AS1,SCN9Ac.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=
2g.166277289A>CCA349078050SCN1A-AS1,SCN9Ac.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
2g.166277289A>GCA429978224SCN1A-AS1,SCN9Ac.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
2g.166277289A>TCA429978225SCN1A-AS1,SCN9Ac.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
2g.166277290A=CA1304965518SCN1A-AS1,SCN9Ac.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=
2g.166277290A>CCA349078051SCN1A-AS1,SCN9Ac.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
2g.166277290A>GCA59794809SCN1A-AS1,SCN9Ac.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
2g.166277290A>TCA349078052SCN1A-AS1,SCN9Ac.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
2g.166277291T>ACA349078054SCN1A-AS1,SCN9Ac.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
2g.166277291T>CCA349078055SCN1A-AS1,SCN9Ac.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
2g.166277291T>GCA349078053SCN1A-AS1,SCN9Ac.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
2g.166277291T=CA1304965527SCN1A-AS1,SCN9Ac.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=
2g.166277292C>ACA429978226SCN1A-AS1,SCN9Ac.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
2g.166277292C=CA1304965535SCN1A-AS1,SCN9Ac.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=
2g.166277292C>GCA429978227SCN1A-AS1,SCN9Ac.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
2g.166277292C>TCA429978228SCN1A-AS1,SCN9Ac.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
2g.166277293A>CCA349078058SCN1A-AS1,SCN9Ac.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
2g.166277293A>GCA349078056SCN1A-AS1,SCN9Ac.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
2g.166277293A>TCA349078057SCN1A-AS1,SCN9Ac.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
2g.166277294G>ACA429978229SCN1A-AS1,SCN9Ac.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
2g.166277294G>CCA349078059SCN1A-AS1,SCN9Ac.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
2g.166277294G>TCA349078060SCN1A-AS1,SCN9Ac.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
2g.166277295C>ACA349078061SCN1A-AS1,SCN9Ac.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
2g.166277295C=CA1304965541SCN1A-AS1,SCN9Ac.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=
2g.166277295C>GCA349078062SCN1A-AS1,SCN9Ac.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
2g.166277295C>TCA349078063SCN1A-AS1,SCN9Ac.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
2g.166277296A=CA1304965543SCN1A-AS1,SCN9Ac.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=
2g.166277296A>CCA349078064SCN1A-AS1,SCN9Ac.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
2g.166277296A>GCA59794827SCN1A-AS1,SCN9Ac.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
2g.166277296A>TCA349078065SCN1A-AS1,SCN9Ac.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
2g.166277297T>ACA349078066SCN1A-AS1,SCN9Ac.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
2g.166277297T>CCA349078067SCN1A-AS1,SCN9Ac.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
2g.166277297T>GCA349078068SCN1A-AS1,SCN9Ac.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
2g.166277298G>ACA1944237SCN1A-AS1,SCN9Ac.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
2g.166277298G>CCA349078069SCN1A-AS1,SCN9Ac.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
2g.166277298G=CA1304965548SCN1A-AS1,SCN9Ac.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=
2g.166277298G>TCA349078070SCN1A-AS1,SCN9Ac.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
2g.166277299T>ACA349078071SCN1A-AS1,SCN9Ac.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
2g.166277299T>CCA349078072SCN1A-AS1,SCN9Ac.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
2g.166277299T>GCA349078073SCN1A-AS1,SCN9Ac.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
2g.166277300T>ACA349078074SCN1A-AS1,SCN9Ac.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
2g.166277300T>CCA349078075SCN1A-AS1,SCN9Ac.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
2g.166277300T>GCA349078076SCN1A-AS1,SCN9Ac.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
2g.166277301C>ACA349078077SCN1A-AS1,SCN9Ac.2556G>T (p.Leu852Phe)
c.2523G>T (p.Leu841Phe)
c.213G>T (p.Leu71Phe)
c.1558G>T
n.1029+54C>A
c.2169G>T (p.Leu723Phe)
c.1812G>T (p.Leu604Phe)
n.2870G>T
2g.166277301C=CA1304965559SCN1A-AS1,SCN9Ac.2556G= (p.Leu852=)
c.2523G= (p.Leu841=)
c.213G= (p.Leu71=)
c.1558G=
n.1029+54C=
c.2169G= (p.Leu723=)
c.1812G= (p.Leu604=)
n.2870G=
2g.166277301C>GCA349078078SCN1A-AS1,SCN9Ac.2556G>C (p.Leu852Phe)
c.2523G>C (p.Leu841Phe)
c.213G>C (p.Leu71Phe)
c.1558G>C
n.1029+54C>G
c.2169G>C (p.Leu723Phe)
c.1812G>C (p.Leu604Phe)
n.2870G>C
2g.166277301C>TCA1944238SCN1A-AS1,SCN9Ac.2556G>A (p.Leu852=)
c.2523G>A (p.Leu841=)
c.213G>A (p.Leu71=)
c.1558G>A
n.1029+54C>T
c.2169G>A (p.Leu723=)
c.1812G>A (p.Leu604=)
n.2870G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277302A=CA1304965568SCN1A-AS1,SCN9Ac.2555T= (p.Leu852=)
c.2522T= (p.Leu841=)
c.212T= (p.Leu71=)
c.1557T=
n.1029+55A=
c.2168T= (p.Leu723=)
c.1811T= (p.Leu604=)
n.2869T=
2g.166277302A>CCA349078079SCN1A-AS1,SCN9Ac.2555T>G (p.Leu852Trp)
c.2522T>G (p.Leu841Trp)
c.212T>G (p.Leu71Trp)
c.1557T>G
n.1029+55A>C
c.2168T>G (p.Leu723Trp)
c.1811T>G (p.Leu604Trp)
n.2869T>G
2g.166277302A>GCA349078080SCN1A-AS1,SCN9Ac.2555T>C (p.Leu852Ser)
c.2522T>C (p.Leu841Ser)
c.212T>C (p.Leu71Ser)
c.1557T>C
n.1029+55A>G
c.2168T>C (p.Leu723Ser)
c.1811T>C (p.Leu604Ser)
n.2869T>C
2g.166277302A>TCA349078081SCN1A-AS1,SCN9Ac.2555T>A (p.Leu852Ter)
c.2522T>A (p.Leu841Ter)
c.212T>A (p.Leu71Ter)
c.1557T>A
n.1029+55A>T
c.2168T>A (p.Leu723Ter)
c.1811T>A (p.Leu604Ter)
n.2869T>A
 dbSNP
2g.166277303A=CA1304965581SCN1A-AS1,SCN9Ac.2554T= (p.Leu852=)
c.2521T= (p.Leu841=)
c.211T= (p.Leu71=)
c.1556T=
n.1029+56A=
c.2167T= (p.Leu723=)
c.1810T= (p.Leu604=)
n.2868T=
2g.166277303A>CCA349078083SCN1A-AS1,SCN9Ac.2554T>G (p.Leu852Val)
c.2521T>G (p.Leu841Val)
c.211T>G (p.Leu71Val)
c.1556T>G
n.1029+56A>C
c.2167T>G (p.Leu723Val)
c.1810T>G (p.Leu604Val)
n.2868T>G
2g.166277303A>GCA1944239SCN1A-AS1,SCN9Ac.2554T>C (p.Leu852=)
c.2521T>C (p.Leu841=)
c.211T>C (p.Leu71=)
c.1556T>C
n.1029+56A>G
c.2167T>C (p.Leu723=)
c.1810T>C (p.Leu604=)
n.2868T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277303A>TCA349078082SCN1A-AS1,SCN9Ac.2554T>A (p.Leu852Met)
c.2521T>A (p.Leu841Met)
c.211T>A (p.Leu71Met)
c.1556T>A
n.1029+56A>T
c.2167T>A (p.Leu723Met)
c.1810T>A (p.Leu604Met)
n.2868T>A
2g.166277303_166277304delinsATCA1304965579SCN1A-AS1,SCN9Ac.2553_2554delinsAT (p.Thr851=)
c.2520_2521delinsAT (p.Thr840=)
c.210_211delinsAT (p.Thr70=)
c.1555_1556delinsAT
n.1029+56_1029+57delinsAT
c.2166_2167delinsAT (p.Thr722=)
c.1809_1810delinsAT (p.Thr603=)
n.2867_2868delinsAT
2g.166277304delCA1944240SCN1A-AS1,SCN9Ac.2553del (p.Leu852Ter)
c.2520del (p.Leu841Ter)
c.210del (p.Leu71Ter)
c.1555del
n.1029+57del
c.2166del (p.Leu723Ter)
c.1809del (p.Leu604Ter)
n.2867del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166277304T>ACA429978230SCN1A-AS1,SCN9Ac.2553A>T (p.Thr851=)
c.2520A>T (p.Thr840=)
c.210A>T (p.Thr70=)
c.1555A>T
n.1029+57T>A
c.2166A>T (p.Thr722=)
c.1809A>T (p.Thr603=)
n.2867A>T
2g.166277304T>CCA1944241SCN1A-AS1,SCN9Ac.2553A>G (p.Thr851=)
c.2520A>G (p.Thr840=)
c.210A>G (p.Thr70=)
c.1555A>G
n.1029+57T>C
c.2166A>G (p.Thr722=)
c.1809A>G (p.Thr603=)
n.2867A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166277304T>GCA429978231SCN1A-AS1,SCN9Ac.2553A>C (p.Thr851=)
c.2520A>C (p.Thr840=)
c.210A>C (p.Thr70=)
c.1555A>C
n.1029+57T>G
c.2166A>C (p.Thr722=)
c.1809A>C (p.Thr603=)
n.2867A>C
2g.166277304T=CA1304965590SCN1A-AS1,SCN9Ac.2553A= (p.Thr851=)
c.2520A= (p.Thr840=)
c.210A= (p.Thr70=)
c.1555A=
n.1029+57T=
c.2166A= (p.Thr722=)
c.1809A= (p.Thr603=)
n.2867A=
2g.166277305G>ACA349078084SCN1A-AS1,SCN9Ac.2552C>T (p.Thr851Ile)
c.2519C>T (p.Thr840Ile)
c.209C>T (p.Thr70Ile)
c.1554C>T
n.1029+58G>A
c.2165C>T (p.Thr722Ile)
c.1808C>T (p.Thr603Ile)
n.2866C>T
 gnomAD v4
2g.166277305G>CCA349078085SCN1A-AS1,SCN9Ac.2552C>G (p.Thr851Arg)
c.2519C>G (p.Thr840Arg)
c.209C>G (p.Thr70Arg)
c.1554C>G
n.1029+58G>C
c.2165C>G (p.Thr722Arg)
c.1808C>G (p.Thr603Arg)
n.2866C>G
2g.166277305G=CA1304965594SCN1A-AS1,SCN9Ac.2552C= (p.Thr851=)
c.2519C= (p.Thr840=)
c.209C= (p.Thr70=)
c.1554C=
n.1029+58G=
c.2165C= (p.Thr722=)
c.1808C= (p.Thr603=)
n.2866C=
2g.166277305G>TCA349078086SCN1A-AS1,SCN9Ac.2552C>A (p.Thr851Lys)
c.2519C>A (p.Thr840Lys)
c.209C>A (p.Thr70Lys)
c.1554C>A
n.1029+58G>T
c.2165C>A (p.Thr722Lys)
c.1808C>A (p.Thr603Lys)
n.2866C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166277306T>ACA349078087SCN1A-AS1,SCN9Ac.2551A>T (p.Thr851Ser)
c.2518A>T (p.Thr840Ser)
c.208A>T (p.Thr70Ser)
c.1553A>T
n.1029+59T>A
c.2164A>T (p.Thr722Ser)
c.1807A>T (p.Thr603Ser)
n.2865A>T
2g.166277306T>CCA349078088SCN1A-AS1,SCN9Ac.2551A>G (p.Thr851Ala)
c.2518A>G (p.Thr840Ala)
c.208A>G (p.Thr70Ala)
c.1553A>G
n.1029+59T>C
c.2164A>G (p.Thr722Ala)
c.1807A>G (p.Thr603Ala)
n.2865A>G
 COSMIC COSMIC
2g.166277306T>GCA349078089SCN1A-AS1,SCN9Ac.2551A>C (p.Thr851Pro)
c.2518A>C (p.Thr840Pro)
c.208A>C (p.Thr70Pro)
c.1553A>C
n.1029+59T>G
c.2164A>C (p.Thr722Pro)
c.1807A>C (p.Thr603Pro)
n.2865A>C

Number of alleles fetched