Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166277187C>ACA349077839SCN1A-AS1,SCN9Ac.2670G>T (p.Lys890Asn)
c.2637G>T (p.Lys879Asn)
c.327G>T (p.Lys109Asn)
c.1672G>T
n.969C>A
c.2283G>T (p.Lys761Asn)
c.1926G>T (p.Lys642Asn)
n.2984G>T
2g.166277187C>GCA349077838SCN1A-AS1,SCN9Ac.2670G>C (p.Lys890Asn)
c.2637G>C (p.Lys879Asn)
c.327G>C (p.Lys109Asn)
c.1672G>C
n.969C>G
c.2283G>C (p.Lys761Asn)
c.1926G>C (p.Lys642Asn)
n.2984G>C
2g.166277187C>TCA429978338SCN1A-AS1,SCN9Ac.2670G>A (p.Lys890=)
c.2637G>A (p.Lys879=)
c.327G>A (p.Lys109=)
c.1672G>A
n.969C>T
c.2283G>A (p.Lys761=)
c.1926G>A (p.Lys642=)
n.2984G>A
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.166277188T>ACA349077840SCN1A-AS1,SCN9Ac.2669A>T (p.Lys890Met)
c.2636A>T (p.Lys879Met)
c.326A>T (p.Lys109Met)
c.1671A>T
n.970T>A
c.2282A>T (p.Lys761Met)
c.1925A>T (p.Lys642Met)
n.2983A>T
2g.166277188T>CCA349077841SCN1A-AS1,SCN9Ac.2669A>G (p.Lys890Arg)
c.2636A>G (p.Lys879Arg)
c.326A>G (p.Lys109Arg)
c.1671A>G
n.970T>C
c.2282A>G (p.Lys761Arg)
c.1925A>G (p.Lys642Arg)
n.2983A>G
2g.166277188T>GCA349077842SCN1A-AS1,SCN9Ac.2669A>C (p.Lys890Thr)
c.2636A>C (p.Lys879Thr)
c.326A>C (p.Lys109Thr)
c.1671A>C
n.970T>G
c.2282A>C (p.Lys761Thr)
c.1925A>C (p.Lys642Thr)
n.2983A>C
2g.166277189T>ACA349077843SCN1A-AS1,SCN9Ac.2668A>T (p.Lys890Ter)
c.2635A>T (p.Lys879Ter)
c.325A>T (p.Lys109Ter)
c.1670A>T
n.971T>A
c.2281A>T (p.Lys761Ter)
c.1924A>T (p.Lys642Ter)
n.2982A>T
2g.166277189T>CCA349077844SCN1A-AS1,SCN9Ac.2668A>G (p.Lys890Glu)
c.2635A>G (p.Lys879Glu)
c.325A>G (p.Lys109Glu)
c.1670A>G
n.971T>C
c.2281A>G (p.Lys761Glu)
c.1924A>G (p.Lys642Glu)
n.2982A>G
2g.166277189T>GCA349077845SCN1A-AS1,SCN9Ac.2668A>C (p.Lys890Gln)
c.2635A>C (p.Lys879Gln)
c.325A>C (p.Lys109Gln)
c.1670A>C
n.971T>G
c.2281A>C (p.Lys761Gln)
c.1924A>C (p.Lys642Gln)
n.2982A>C
2g.166277190A>CCA429978340SCN1A-AS1,SCN9Ac.2667T>G (p.Gly889=)
c.2634T>G (p.Gly878=)
c.324T>G (p.Gly108=)
c.1669T>G
n.972A>C
c.2280T>G (p.Gly760=)
c.1923T>G (p.Gly641=)
n.2981T>G
2g.166277190A>GCA429978341SCN1A-AS1,SCN9Ac.2667T>C (p.Gly889=)
c.2634T>C (p.Gly878=)
c.324T>C (p.Gly108=)
c.1669T>C
n.972A>G
c.2280T>C (p.Gly760=)
c.1923T>C (p.Gly641=)
n.2981T>C
 gnomAD v4
2g.166277190A>TCA429978342SCN1A-AS1,SCN9Ac.2667T>A (p.Gly889=)
c.2634T>A (p.Gly878=)
c.324T>A (p.Gly108=)
c.1669T>A
n.972A>T
c.2280T>A (p.Gly760=)
c.1923T>A (p.Gly641=)
n.2981T>A
2g.166277190dupCA2499215221SCN1A-AS1,SCN9Ac.2667dup (p.Lys890Ter)
c.2634dup (p.Lys879Ter)
c.324dup (p.Lys109Ter)
c.1669dup
n.972dup
c.2280dup (p.Lys761Ter)
c.1923dup (p.Lys642Ter)
n.2981dup
 ClinVar dbSNP
2g.166277191_166277194delCA2753031906SCN1A-AS1,SCN9Ac.2664_2667del (p.Phe888LeufsTer22)
c.2631_2634del (p.Phe877LeufsTer22)
c.321_324del (p.Phe107LeufsTer22)
c.1666_1669del
n.973_976del
c.2277_2280del (p.Phe759LeufsTer22)
c.1920_1923del (p.Phe640LeufsTer22)
n.2978_2981del
2g.166277191C>ACA1944221SCN1A-AS1,SCN9Ac.2666G>T (p.Gly889Val)
c.2633G>T (p.Gly878Val)
c.323G>T (p.Gly108Val)
c.1668G>T
n.973C>A
c.2279G>T (p.Gly760Val)
c.1922G>T (p.Gly641Val)
n.2980G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166277191C=CA1304965114SCN1A-AS1,SCN9Ac.2666G= (p.Gly889=)
c.2633G= (p.Gly878=)
c.323G= (p.Gly108=)
c.1668G=
n.973C=
c.2279G= (p.Gly760=)
c.1922G= (p.Gly641=)
n.2980G=
2g.166277191C>GCA349077846SCN1A-AS1,SCN9Ac.2666G>C (p.Gly889Ala)
c.2633G>C (p.Gly878Ala)
c.323G>C (p.Gly108Ala)
c.1668G>C
n.973C>G
c.2279G>C (p.Gly760Ala)
c.1922G>C (p.Gly641Ala)
n.2980G>C
 gnomAD v4
2g.166277191C>TCA349077847SCN1A-AS1,SCN9Ac.2666G>A (p.Gly889Asp)
c.2633G>A (p.Gly878Asp)
c.323G>A (p.Gly108Asp)
c.1668G>A
n.973C>T
c.2279G>A (p.Gly760Asp)
c.1922G>A (p.Gly641Asp)
n.2980G>A
2g.166277192C>ACA349077848SCN1A-AS1,SCN9Ac.2665G>T (p.Gly889Cys)
c.2632G>T (p.Gly878Cys)
c.322G>T (p.Gly108Cys)
c.1667G>T
n.974C>A
c.2278G>T (p.Gly760Cys)
c.1921G>T (p.Gly641Cys)
n.2979G>T
2g.166277192C>GCA349077849SCN1A-AS1,SCN9Ac.2665G>C (p.Gly889Arg)
c.2632G>C (p.Gly878Arg)
c.322G>C (p.Gly108Arg)
c.1667G>C
n.974C>G
c.2278G>C (p.Gly760Arg)
c.1921G>C (p.Gly641Arg)
n.2979G>C
 gnomAD v4
2g.166277192C>TCA349077850SCN1A-AS1,SCN9Ac.2665G>A (p.Gly889Ser)
c.2632G>A (p.Gly878Ser)
c.322G>A (p.Gly108Ser)
c.1667G>A
n.974C>T
c.2278G>A (p.Gly760Ser)
c.1921G>A (p.Gly641Ser)
n.2979G>A
2g.166277193A=CA1304965122SCN1A-AS1,SCN9Ac.2664T= (p.Phe888=)
c.2631T= (p.Phe877=)
c.321T= (p.Phe107=)
c.1666T=
n.975A=
c.2277T= (p.Phe759=)
c.1920T= (p.Phe640=)
n.2978T=
2g.166277193A>CCA349077851SCN1A-AS1,SCN9Ac.2664T>G (p.Phe888Leu)
c.2631T>G (p.Phe877Leu)
c.321T>G (p.Phe107Leu)
c.1666T>G
n.975A>C
c.2277T>G (p.Phe759Leu)
c.1920T>G (p.Phe640Leu)
n.2978T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166277193A>GCA429978345SCN1A-AS1,SCN9Ac.2664T>C (p.Phe888=)
c.2631T>C (p.Phe877=)
c.321T>C (p.Phe107=)
c.1666T>C
n.975A>G
c.2277T>C (p.Phe759=)
c.1920T>C (p.Phe640=)
n.2978T>C
2g.166277193A>TCA349077852SCN1A-AS1,SCN9Ac.2664T>A (p.Phe888Leu)
c.2631T>A (p.Phe877Leu)
c.321T>A (p.Phe107Leu)
c.1666T>A
n.975A>T
c.2277T>A (p.Phe759Leu)
c.1920T>A (p.Phe640Leu)
n.2978T>A
2g.166277193_166277194insTGGTCA2753031907SCN1A-AS1,SCN9Ac.2663_2664insACCA (p.Phe888LeufsTer4)
c.2630_2631insACCA (p.Phe877LeufsTer4)
c.320_321insACCA (p.Phe107LeufsTer4)
c.1665_1666insACCA
n.975_976insTGGT
c.2276_2277insACCA (p.Phe759LeufsTer4)
c.1919_1920insACCA (p.Phe640LeufsTer4)
n.2977_2978insACCA
2g.166277194A>CCA349077853SCN1A-AS1,SCN9Ac.2663T>G (p.Phe888Cys)
c.2630T>G (p.Phe877Cys)
c.320T>G (p.Phe107Cys)
c.1665T>G
n.976A>C
c.2276T>G (p.Phe759Cys)
c.1919T>G (p.Phe640Cys)
n.2977T>G
2g.166277194A>GCA349077855SCN1A-AS1,SCN9Ac.2663T>C (p.Phe888Ser)
c.2630T>C (p.Phe877Ser)
c.320T>C (p.Phe107Ser)
c.1665T>C
n.976A>G
c.2276T>C (p.Phe759Ser)
c.1919T>C (p.Phe640Ser)
n.2977T>C
2g.166277194A>TCA349077854SCN1A-AS1,SCN9Ac.2663T>A (p.Phe888Tyr)
c.2630T>A (p.Phe877Tyr)
c.320T>A (p.Phe107Tyr)
c.1665T>A
n.976A>T
c.2276T>A (p.Phe759Tyr)
c.1919T>A (p.Phe640Tyr)
n.2977T>A
2g.166277195A>CCA349077856SCN1A-AS1,SCN9Ac.2662T>G (p.Phe888Val)
c.2629T>G (p.Phe877Val)
c.319T>G (p.Phe107Val)
c.1664T>G
n.977A>C
c.2275T>G (p.Phe759Val)
c.1918T>G (p.Phe640Val)
n.2976T>G
2g.166277195A>GCA349077857SCN1A-AS1,SCN9Ac.2662T>C (p.Phe888Leu)
c.2629T>C (p.Phe877Leu)
c.319T>C (p.Phe107Leu)
c.1664T>C
n.977A>G
c.2275T>C (p.Phe759Leu)
c.1918T>C (p.Phe640Leu)
n.2976T>C
2g.166277195A>TCA349077858SCN1A-AS1,SCN9Ac.2662T>A (p.Phe888Ile)
c.2629T>A (p.Phe877Ile)
c.319T>A (p.Phe107Ile)
c.1664T>A
n.977A>T
c.2275T>A (p.Phe759Ile)
c.1918T>A (p.Phe640Ile)
n.2976T>A
2g.166277196G>ACA429978350SCN1A-AS1,SCN9Ac.2661C>T (p.Leu887=)
c.2628C>T (p.Leu876=)
c.318C>T (p.Leu106=)
c.1663C>T
n.978G>A
c.2274C>T (p.Leu758=)
c.1917C>T (p.Leu639=)
n.2975C>T
2g.166277196G>CCA429978351SCN1A-AS1,SCN9Ac.2661C>G (p.Leu887=)
c.2628C>G (p.Leu876=)
c.318C>G (p.Leu106=)
c.1663C>G
n.978G>C
c.2274C>G (p.Leu758=)
c.1917C>G (p.Leu639=)
n.2975C>G
 ClinVar gnomAD v4
2g.166277196G>TCA429978352SCN1A-AS1,SCN9Ac.2661C>A (p.Leu887=)
c.2628C>A (p.Leu876=)
c.318C>A (p.Leu106=)
c.1663C>A
n.978G>T
c.2274C>A (p.Leu758=)
c.1917C>A (p.Leu639=)
n.2975C>A
2g.166277197A>CCA349077859SCN1A-AS1,SCN9Ac.2660T>G (p.Leu887Arg)
c.2627T>G (p.Leu876Arg)
c.317T>G (p.Leu106Arg)
c.1662T>G
n.979A>C
c.2273T>G (p.Leu758Arg)
c.1916T>G (p.Leu639Arg)
n.2974T>G
2g.166277197A>GCA349077860SCN1A-AS1,SCN9Ac.2660T>C (p.Leu887Pro)
c.2627T>C (p.Leu876Pro)
c.317T>C (p.Leu106Pro)
c.1662T>C
n.979A>G
c.2273T>C (p.Leu758Pro)
c.1916T>C (p.Leu639Pro)
n.2974T>C
2g.166277197A>TCA349077861SCN1A-AS1,SCN9Ac.2660T>A (p.Leu887His)
c.2627T>A (p.Leu876His)
c.317T>A (p.Leu106His)
c.1662T>A
n.979A>T
c.2273T>A (p.Leu758His)
c.1916T>A (p.Leu639His)
n.2974T>A
2g.166277198G>ACA59794669SCN1A-AS1,SCN9Ac.2659C>T (p.Leu887Phe)
c.2626C>T (p.Leu876Phe)
c.316C>T (p.Leu106Phe)
c.1661C>T
n.980G>A
c.2272C>T (p.Leu758Phe)
c.1915C>T (p.Leu639Phe)
n.2973C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166277198G>CCA349077862SCN1A-AS1,SCN9Ac.2659C>G (p.Leu887Val)
c.2626C>G (p.Leu876Val)
c.316C>G (p.Leu106Val)
c.1661C>G
n.980G>C
c.2272C>G (p.Leu758Val)
c.1915C>G (p.Leu639Val)
n.2973C>G
2g.166277198G=CA1304965129SCN1A-AS1,SCN9Ac.2659C= (p.Leu887=)
c.2626C= (p.Leu876=)
c.316C= (p.Leu106=)
c.1661C=
n.980G=
c.2272C= (p.Leu758=)
c.1915C= (p.Leu639=)
n.2973C=
2g.166277198G>TCA349077863SCN1A-AS1,SCN9Ac.2659C>A (p.Leu887Ile)
c.2626C>A (p.Leu876Ile)
c.316C>A (p.Leu106Ile)
c.1661C>A
n.980G>T
c.2272C>A (p.Leu758Ile)
c.1915C>A (p.Leu639Ile)
n.2973C>A
2g.166277199C>ACA349077864SCN1A-AS1,SCN9Ac.2658G>T (p.Gln886His)
c.2625G>T (p.Gln875His)
c.315G>T (p.Gln105His)
c.1660G>T
n.981C>A
c.2271G>T (p.Gln757His)
c.1914G>T (p.Gln638His)
n.2972G>T
2g.166277199C>GCA349077865SCN1A-AS1,SCN9Ac.2658G>C (p.Gln886His)
c.2625G>C (p.Gln875His)
c.315G>C (p.Gln105His)
c.1660G>C
n.981C>G
c.2271G>C (p.Gln757His)
c.1914G>C (p.Gln638His)
n.2972G>C
2g.166277199C>TCA429978358SCN1A-AS1,SCN9Ac.2658G>A (p.Gln886=)
c.2625G>A (p.Gln875=)
c.315G>A (p.Gln105=)
c.1660G>A
n.981C>T
c.2271G>A (p.Gln757=)
c.1914G>A (p.Gln638=)
n.2972G>A
 ClinVar dbSNP gnomAD v4
2g.166277200T>ACA349077868SCN1A-AS1,SCN9Ac.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
2g.166277200T>CCA349077867SCN1A-AS1,SCN9Ac.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
2g.166277200T>GCA349077866SCN1A-AS1,SCN9Ac.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
2g.166277201G>ACA349077869SCN1A-AS1,SCN9Ac.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
2g.166277201G>CCA349077870SCN1A-AS1,SCN9Ac.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

Number of alleles fetched