Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166272533C>ACA349073112SCN1A-AS1,SCN9Ac.3217G>T (p.Asp1073Tyr)
c.217G>T (p.Asp73Tyr)
c.3184G>T (p.Asp1062Tyr)
c.1877-35G>T
n.870-4555C>A
c.2830G>T (p.Asp944Tyr)
c.2473G>T (p.Asp825Tyr)
2g.166272533C=CA1304962730SCN1A-AS1,SCN9Ac.3217G= (p.Asp1073=)
c.217G= (p.Asp73=)
c.3184G= (p.Asp1062=)
c.1877-35G=
n.870-4555C=
c.2830G= (p.Asp944=)
c.2473G= (p.Asp825=)
2g.166272533C>GCA59791182SCN1A-AS1,SCN9Ac.3217G>C (p.Asp1073His)
c.217G>C (p.Asp73His)
c.3184G>C (p.Asp1062His)
c.1877-35G>C
n.870-4555C>G
c.2830G>C (p.Asp944His)
c.2473G>C (p.Asp825His)
 dbSNP gnomAD v4
2g.166272533C>TCA1944120SCN1A-AS1,SCN9Ac.3217G>A (p.Asp1073Asn)
c.217G>A (p.Asp73Asn)
c.3184G>A (p.Asp1062Asn)
c.1877-35G>A
n.870-4555C>T
c.2830G>A (p.Asp944Asn)
c.2473G>A (p.Asp825Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272534T>ACA349073118SCN1A-AS1,SCN9Ac.3216A>T (p.Glu1072Asp)
c.216A>T (p.Glu72Asp)
c.3183A>T (p.Glu1061Asp)
c.1877-36A>T
n.870-4554T>A
c.2829A>T (p.Glu943Asp)
c.2472A>T (p.Glu824Asp)
2g.166272534T>CCA429977979SCN1A-AS1,SCN9Ac.3216A>G (p.Glu1072=)
c.216A>G (p.Glu72=)
c.3183A>G (p.Glu1061=)
c.1877-36A>G
n.870-4554T>C
c.2829A>G (p.Glu943=)
c.2472A>G (p.Glu824=)
2g.166272534T>GCA349073119SCN1A-AS1,SCN9Ac.3216A>C (p.Glu1072Asp)
c.216A>C (p.Glu72Asp)
c.3183A>C (p.Glu1061Asp)
c.1877-36A>C
n.870-4554T>G
c.2829A>C (p.Glu943Asp)
c.2472A>C (p.Glu824Asp)
 ClinVar dbSNP
2g.166272534T=CA1304962731SCN1A-AS1,SCN9Ac.3216A= (p.Glu1072=)
c.216A= (p.Glu72=)
c.3183A= (p.Glu1061=)
c.1877-36A=
n.870-4554T=
c.2829A= (p.Glu943=)
c.2472A= (p.Glu824=)
2g.166272535T>ACA349073120SCN1A-AS1,SCN9Ac.3215A>T (p.Glu1072Val)
c.215A>T (p.Glu72Val)
c.3182A>T (p.Glu1061Val)
c.1877-37A>T
n.870-4553T>A
c.2828A>T (p.Glu943Val)
c.2471A>T (p.Glu824Val)
2g.166272535T>CCA1944121SCN1A-AS1,SCN9Ac.3215A>G (p.Glu1072Gly)
c.215A>G (p.Glu72Gly)
c.3182A>G (p.Glu1061Gly)
c.1877-37A>G
n.870-4553T>C
c.2828A>G (p.Glu943Gly)
c.2471A>G (p.Glu824Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272535T>GCA349073122SCN1A-AS1,SCN9Ac.3215A>C (p.Glu1072Ala)
c.215A>C (p.Glu72Ala)
c.3182A>C (p.Glu1061Ala)
c.1877-37A>C
n.870-4553T>G
c.2828A>C (p.Glu943Ala)
c.2471A>C (p.Glu824Ala)
2g.166272535T=CA1304962732SCN1A-AS1,SCN9Ac.3215A= (p.Glu1072=)
c.215A= (p.Glu72=)
c.3182A= (p.Glu1061=)
c.1877-37A=
n.870-4553T=
c.2828A= (p.Glu943=)
c.2471A= (p.Glu824=)
2g.166272536C>ACA349073124SCN1A-AS1,SCN9Ac.3214G>T (p.Glu1072Ter)
c.214G>T (p.Glu72Ter)
c.3181G>T (p.Glu1061Ter)
c.1877-38G>T
n.870-4552C>A
c.2827G>T (p.Glu943Ter)
c.2470G>T (p.Glu824Ter)
 dbSNP
2g.166272536C=CA1304962733SCN1A-AS1,SCN9Ac.3214G= (p.Glu1072=)
c.214G= (p.Glu72=)
c.3181G= (p.Glu1061=)
c.1877-38G=
n.870-4552C=
c.2827G= (p.Glu943=)
c.2470G= (p.Glu824=)
2g.166272536C>GCA349073126SCN1A-AS1,SCN9Ac.3214G>C (p.Glu1072Gln)
c.214G>C (p.Glu72Gln)
c.3181G>C (p.Glu1061Gln)
c.1877-38G>C
n.870-4552C>G
c.2827G>C (p.Glu943Gln)
c.2470G>C (p.Glu824Gln)
2g.166272536C>TCA349073128SCN1A-AS1,SCN9Ac.3214G>A (p.Glu1072Lys)
c.214G>A (p.Glu72Lys)
c.3181G>A (p.Glu1061Lys)
c.1877-38G>A
n.870-4552C>T
c.2827G>A (p.Glu943Lys)
c.2470G>A (p.Glu824Lys)
 COSMIC COSMIC
2g.166272537C>ACA349073135SCN1A-AS1,SCN9Ac.3213G>T (p.Met1071Ile)
c.213G>T (p.Met71Ile)
c.3180G>T (p.Met1060Ile)
c.1877-39G>T
n.870-4551C>A
c.2826G>T (p.Met942Ile)
c.2469G>T (p.Met823Ile)
 dbSNP
2g.166272537C>GCA349073134SCN1A-AS1,SCN9Ac.3213G>C (p.Met1071Ile)
c.213G>C (p.Met71Ile)
c.3180G>C (p.Met1060Ile)
c.1877-39G>C
n.870-4551C>G
c.2826G>C (p.Met942Ile)
c.2469G>C (p.Met823Ile)
2g.166272537C>TCA349073131SCN1A-AS1,SCN9Ac.3213G>A (p.Met1071Ile)
c.213G>A (p.Met71Ile)
c.3180G>A (p.Met1060Ile)
c.1877-39G>A
n.870-4551C>T
c.2826G>A (p.Met942Ile)
c.2469G>A (p.Met823Ile)
2g.166272538A=CA1304962734SCN1A-AS1,SCN9Ac.3212T= (p.Met1071=)
c.212T= (p.Met71=)
c.3179T= (p.Met1060=)
c.1877-40T=
n.870-4550A=
c.2825T= (p.Met942=)
c.2468T= (p.Met823=)
2g.166272538A>CCA349073136SCN1A-AS1,SCN9Ac.3212T>G (p.Met1071Arg)
c.212T>G (p.Met71Arg)
c.3179T>G (p.Met1060Arg)
c.1877-40T>G
n.870-4550A>C
c.2825T>G (p.Met942Arg)
c.2468T>G (p.Met823Arg)
 ClinVar dbSNP
2g.166272538A>GCA1944122SCN1A-AS1,SCN9Ac.3212T>C (p.Met1071Thr)
c.212T>C (p.Met71Thr)
c.3179T>C (p.Met1060Thr)
c.1877-40T>C
n.870-4550A>G
c.2825T>C (p.Met942Thr)
c.2468T>C (p.Met823Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272538A>TCA349073141SCN1A-AS1,SCN9Ac.3212T>A (p.Met1071Lys)
c.212T>A (p.Met71Lys)
c.3179T>A (p.Met1060Lys)
c.1877-40T>A
n.870-4550A>T
c.2825T>A (p.Met942Lys)
c.2468T>A (p.Met823Lys)
 ClinVar dbSNP
2g.166272538_166272540delinsATCCA1304962735SCN1A-AS1,SCN9Ac.3210_3212delinsGAT (p.Leu1070=)
c.210_212delinsGAT (p.Leu70=)
c.3177_3179delinsGAT (p.Leu1059=)
c.1877-42_1877-40delinsGAT
n.870-4550_870-4548delinsATC
c.2823_2825delinsGAT (p.Leu941=)
c.2466_2468delinsGAT (p.Leu822=)
2g.166272539T>ACA349073145SCN1A-AS1,SCN9Ac.3211A>T (p.Met1071Leu)
c.211A>T (p.Met71Leu)
c.3178A>T (p.Met1060Leu)
c.1877-41A>T
n.870-4549T>A
c.2824A>T (p.Met942Leu)
c.2467A>T (p.Met823Leu)
2g.166272539T>CCA349073148SCN1A-AS1,SCN9Ac.3211A>G (p.Met1071Val)
c.211A>G (p.Met71Val)
c.3178A>G (p.Met1060Val)
c.1877-41A>G
n.870-4549T>C
c.2824A>G (p.Met942Val)
c.2467A>G (p.Met823Val)
2g.166272539T>GCA349073151SCN1A-AS1,SCN9Ac.3211A>C (p.Met1071Leu)
c.211A>C (p.Met71Leu)
c.3178A>C (p.Met1060Leu)
c.1877-41A>C
n.870-4549T>G
c.2824A>C (p.Met942Leu)
c.2467A>C (p.Met823Leu)
2g.166272539_166272540delCA537649350SCN1A-AS1,SCN9Ac.3210_3211del (p.Leu1070PhefsTer5)
c.210_211del (p.Leu70PhefsTer5)
c.3177_3178del (p.Leu1059PhefsTer5)
c.1877-42_1877-41del
n.870-4549_870-4548del
c.2823_2824del (p.Leu941PhefsTer5)
c.2466_2467del (p.Leu822PhefsTer5)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272539_166272541delinsAAGCA2740095849SCN1A-AS1,SCN9Ac.3209_3211delinsCTT (p.Leu1070_Met1071delinsSerLeu)
c.209_211delinsCTT (p.Leu70_Met71delinsSerLeu)
c.3176_3178delinsCTT (p.Leu1059_Met1060delinsSerLeu)
c.1877-43_1877-41delinsCTT
n.870-4549_870-4547delinsAAG
c.2822_2824delinsCTT (p.Leu941_Met942delinsSerLeu)
c.2465_2467delinsCTT (p.Leu822_Met823delinsSerLeu)
 ClinVar
2g.166272540C>ACA349073153SCN1A-AS1,SCN9Ac.3210G>T (p.Leu1070Phe)
c.210G>T (p.Leu70Phe)
c.3177G>T (p.Leu1059Phe)
c.1877-42G>T
n.870-4548C>A
c.2823G>T (p.Leu941Phe)
c.2466G>T (p.Leu822Phe)
2g.166272540C=CA1304962736SCN1A-AS1,SCN9Ac.3210G= (p.Leu1070=)
c.210G= (p.Leu70=)
c.3177G= (p.Leu1059=)
c.1877-42G=
n.870-4548C=
c.2823G= (p.Leu941=)
c.2466G= (p.Leu822=)
2g.166272540C>GCA349073154SCN1A-AS1,SCN9Ac.3210G>C (p.Leu1070Phe)
c.210G>C (p.Leu70Phe)
c.3177G>C (p.Leu1059Phe)
c.1877-42G>C
n.870-4548C>G
c.2823G>C (p.Leu941Phe)
c.2466G>C (p.Leu822Phe)
 dbSNP gnomAD v4
2g.166272540C>TCA1944123SCN1A-AS1,SCN9Ac.3210G>A (p.Leu1070=)
c.210G>A (p.Leu70=)
c.3177G>A (p.Leu1059=)
c.1877-42G>A
n.870-4548C>T
c.2823G>A (p.Leu941=)
c.2466G>A (p.Leu822=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272541A=CA1304962737SCN1A-AS1,SCN9Ac.3209T= (p.Leu1070=)
c.209T= (p.Leu70=)
c.3176T= (p.Leu1059=)
c.1877-43T=
n.870-4547A=
c.2822T= (p.Leu941=)
c.2465T= (p.Leu822=)
2g.166272541A>CCA349073155SCN1A-AS1,SCN9Ac.3209T>G (p.Leu1070Trp)
c.209T>G (p.Leu70Trp)
c.3176T>G (p.Leu1059Trp)
c.1877-43T>G
n.870-4547A>C
c.2822T>G (p.Leu941Trp)
c.2465T>G (p.Leu822Trp)
2g.166272541A>GCA1944124SCN1A-AS1,SCN9Ac.3209T>C (p.Leu1070Ser)
c.209T>C (p.Leu70Ser)
c.3176T>C (p.Leu1059Ser)
c.1877-43T>C
n.870-4547A>G
c.2822T>C (p.Leu941Ser)
c.2465T>C (p.Leu822Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272541A>TCA349073157SCN1A-AS1,SCN9Ac.3209T>A (p.Leu1070Ter)
c.209T>A (p.Leu70Ter)
c.3176T>A (p.Leu1059Ter)
c.1877-43T>A
n.870-4547A>T
c.2822T>A (p.Leu941Ter)
c.2465T>A (p.Leu822Ter)
 dbSNP
2g.166272542A=CA1304962738SCN1A-AS1,SCN9Ac.3208T= (p.Leu1070=)
c.208T= (p.Leu70=)
c.3175T= (p.Leu1059=)
c.1877-44T=
n.870-4546A=
c.2821T= (p.Leu941=)
c.2464T= (p.Leu822=)
2g.166272542A>CCA349073159SCN1A-AS1,SCN9Ac.3208T>G (p.Leu1070Val)
c.208T>G (p.Leu70Val)
c.3175T>G (p.Leu1059Val)
c.1877-44T>G
n.870-4546A>C
c.2821T>G (p.Leu941Val)
c.2464T>G (p.Leu822Val)
2g.166272542A>GCA429977991SCN1A-AS1,SCN9Ac.3208T>C (p.Leu1070=)
c.208T>C (p.Leu70=)
c.3175T>C (p.Leu1059=)
c.1877-44T>C
n.870-4546A>G
c.2821T>C (p.Leu941=)
c.2464T>C (p.Leu822=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272542A>TCA349073162SCN1A-AS1,SCN9Ac.3208T>A (p.Leu1070Met)
c.208T>A (p.Leu70Met)
c.3175T>A (p.Leu1059Met)
c.1877-44T>A
n.870-4546A>T
c.2821T>A (p.Leu941Met)
c.2464T>A (p.Leu822Met)
2g.166272542_166272543dupCA537649353SCN1A-AS1,SCN9Ac.3207_3208dup (p.Leu1070SerfsTer2)
c.207_208dup (p.Leu70SerfsTer2)
c.3174_3175dup (p.Leu1059SerfsTer2)
c.1877-45_1877-44dup
n.870-4546_870-4545dup
c.2820_2821dup (p.Leu941SerfsTer2)
c.2463_2464dup (p.Leu822SerfsTer2)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272543G>ACA1944125SCN1A-AS1,SCN9Ac.3207C>T (p.His1069=)
c.207C>T (p.His69=)
c.3174C>T (p.His1058=)
c.1877-45C>T
n.870-4545G>A
c.2820C>T (p.His940=)
c.2463C>T (p.His821=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272543G>CCA349073170SCN1A-AS1,SCN9Ac.3207C>G (p.His1069Gln)
c.207C>G (p.His69Gln)
c.3174C>G (p.His1058Gln)
c.1877-45C>G
n.870-4545G>C
c.2820C>G (p.His940Gln)
c.2463C>G (p.His821Gln)
2g.166272543G=CA1304962739SCN1A-AS1,SCN9Ac.3207C= (p.His1069=)
c.207C= (p.His69=)
c.3174C= (p.His1058=)
c.1877-45C=
n.870-4545G=
c.2820C= (p.His940=)
c.2463C= (p.His821=)
2g.166272543G>TCA349073168SCN1A-AS1,SCN9Ac.3207C>A (p.His1069Gln)
c.207C>A (p.His69Gln)
c.3174C>A (p.His1058Gln)
c.1877-45C>A
n.870-4545G>T
c.2820C>A (p.His940Gln)
c.2463C>A (p.His821Gln)
2g.166272544T>ACA349073174SCN1A-AS1,SCN9Ac.3206A>T (p.His1069Leu)
c.206A>T (p.His69Leu)
c.3173A>T (p.His1058Leu)
c.1877-46A>T
n.870-4544T>A
c.2819A>T (p.His940Leu)
c.2462A>T (p.His821Leu)
2g.166272544T>CCA349073176SCN1A-AS1,SCN9Ac.3206A>G (p.His1069Arg)
c.206A>G (p.His69Arg)
c.3173A>G (p.His1058Arg)
c.1877-46A>G
n.870-4544T>C
c.2819A>G (p.His940Arg)
c.2462A>G (p.His821Arg)
 ClinVar dbSNP
2g.166272544T>GCA349073178SCN1A-AS1,SCN9Ac.3206A>C (p.His1069Pro)
c.206A>C (p.His69Pro)
c.3173A>C (p.His1058Pro)
c.1877-46A>C
n.870-4544T>G
c.2819A>C (p.His940Pro)
c.2462A>C (p.His821Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272544T=CA1304962740SCN1A-AS1,SCN9Ac.3206A= (p.His1069=)
c.206A= (p.His69=)
c.3173A= (p.His1058=)
c.1877-46A=
n.870-4544T=
c.2819A= (p.His940=)
c.2462A= (p.His821=)
2g.166272545G>ACA349073181SCN1A-AS1,SCN9Ac.3205C>T (p.His1069Tyr)
c.205C>T (p.His69Tyr)
c.3172C>T (p.His1058Tyr)
c.1877-47C>T
n.870-4543G>A
c.2818C>T (p.His940Tyr)
c.2461C>T (p.His821Tyr)
2g.166272545G>CCA349073184SCN1A-AS1,SCN9Ac.3205C>G (p.His1069Asp)
c.205C>G (p.His69Asp)
c.3172C>G (p.His1058Asp)
c.1877-47C>G
n.870-4543G>C
c.2818C>G (p.His940Asp)
c.2461C>G (p.His821Asp)
2g.166272545G>TCA349073186SCN1A-AS1,SCN9Ac.3205C>A (p.His1069Asn)
c.205C>A (p.His69Asn)
c.3172C>A (p.His1058Asn)
c.1877-47C>A
n.870-4543G>T
c.2818C>A (p.His940Asn)
c.2461C>A (p.His821Asn)
2g.166272545dupCA59791245SCN1A-AS1,SCN9Ac.3205dup (p.His1069ProfsTer7)
c.205dup (p.His69ProfsTer7)
c.3172dup (p.His1058ProfsTer7)
c.1877-47dup
n.870-4543dup
c.2818dup (p.His940ProfsTer7)
c.2461dup (p.His821ProfsTer7)
 dbSNP
2g.166272545_166272546delinsGTCA1304962741SCN1A-AS1,SCN9Ac.3204_3205delinsAC (p.Lys1068=)
c.204_205delinsAC (p.Lys68=)
c.3171_3172delinsAC (p.Lys1057=)
c.1877-48_1877-47delinsAC
n.870-4543_870-4542delinsGT
c.2817_2818delinsAC (p.Lys939=)
c.2460_2461delinsAC (p.Lys820=)
2g.166272546T>ACA349073188SCN1A-AS1,SCN9Ac.3204A>T (p.Lys1068Asn)
c.204A>T (p.Lys68Asn)
c.3171A>T (p.Lys1057Asn)
c.1877-48A>T
n.870-4542T>A
c.2817A>T (p.Lys939Asn)
c.2460A>T (p.Lys820Asn)
2g.166272546T>CCA429977999SCN1A-AS1,SCN9Ac.3204A>G (p.Lys1068=)
c.204A>G (p.Lys68=)
c.3171A>G (p.Lys1057=)
c.1877-48A>G
n.870-4542T>C
c.2817A>G (p.Lys939=)
c.2460A>G (p.Lys820=)
2g.166272546T>GCA349073190SCN1A-AS1,SCN9Ac.3204A>C (p.Lys1068Asn)
c.204A>C (p.Lys68Asn)
c.3171A>C (p.Lys1057Asn)
c.1877-48A>C
n.870-4542T>G
c.2817A>C (p.Lys939Asn)
c.2460A>C (p.Lys820Asn)
2g.166272548delCA915942952SCN1A-AS1,SCN9Ac.3204del (p.Lys1068AsnfsTer3)
c.204del (p.Lys68AsnfsTer3)
c.3171del (p.Lys1057AsnfsTer3)
c.1877-48del
n.870-4540del
c.2817del (p.Lys939AsnfsTer3)
c.2460del (p.Lys820AsnfsTer3)
 ClinVar dbSNP
2g.166272547T>ACA349073194SCN1A-AS1,SCN9Ac.3203A>T (p.Lys1068Ile)
c.203A>T (p.Lys68Ile)
c.3170A>T (p.Lys1057Ile)
c.1877-49A>T
n.870-4541T>A
c.2816A>T (p.Lys939Ile)
c.2459A>T (p.Lys820Ile)
2g.166272547T>CCA349073195SCN1A-AS1,SCN9Ac.3203A>G (p.Lys1068Arg)
c.203A>G (p.Lys68Arg)
c.3170A>G (p.Lys1057Arg)
c.1877-49A>G
n.870-4541T>C
c.2816A>G (p.Lys939Arg)
c.2459A>G (p.Lys820Arg)
2g.166272547T>GCA349073197SCN1A-AS1,SCN9Ac.3203A>C (p.Lys1068Thr)
c.203A>C (p.Lys68Thr)
c.3170A>C (p.Lys1057Thr)
c.1877-49A>C
n.870-4541T>G
c.2816A>C (p.Lys939Thr)
c.2459A>C (p.Lys820Thr)
2g.166272548T>ACA349073205SCN1A-AS1,SCN9Ac.3202A>T (p.Lys1068Ter)
c.202A>T (p.Lys68Ter)
c.3169A>T (p.Lys1057Ter)
c.1877-50A>T
n.870-4540T>A
c.2815A>T (p.Lys939Ter)
c.2458A>T (p.Lys820Ter)
2g.166272548T>CCA349073200SCN1A-AS1,SCN9Ac.3202A>G (p.Lys1068Glu)
c.202A>G (p.Lys68Glu)
c.3169A>G (p.Lys1057Glu)
c.1877-50A>G
n.870-4540T>C
c.2815A>G (p.Lys939Glu)
c.2458A>G (p.Lys820Glu)
 gnomAD v4
2g.166272548T>GCA349073202SCN1A-AS1,SCN9Ac.3202A>C (p.Lys1068Gln)
c.202A>C (p.Lys68Gln)
c.3169A>C (p.Lys1057Gln)
c.1877-50A>C
n.870-4540T>G
c.2815A>C (p.Lys939Gln)
c.2458A>C (p.Lys820Gln)
2g.166272549G>ACA429978001SCN1A-AS1,SCN9Ac.3201C>T (p.Asp1067=)
c.201C>T (p.Asp67=)
c.3168C>T (p.Asp1056=)
c.1877-51C>T
n.870-4539G>A
c.2814C>T (p.Asp938=)
c.2457C>T (p.Asp819=)
2g.166272549G>CCA349073207SCN1A-AS1,SCN9Ac.3201C>G (p.Asp1067Glu)
c.201C>G (p.Asp67Glu)
c.3168C>G (p.Asp1056Glu)
c.1877-51C>G
n.870-4539G>C
c.2814C>G (p.Asp938Glu)
c.2457C>G (p.Asp819Glu)
2g.166272549G>TCA349073210SCN1A-AS1,SCN9Ac.3201C>A (p.Asp1067Glu)
c.201C>A (p.Asp67Glu)
c.3168C>A (p.Asp1056Glu)
c.1877-51C>A
n.870-4539G>T
c.2814C>A (p.Asp938Glu)
c.2457C>A (p.Asp819Glu)
2g.166272550T>ACA349073214SCN1A-AS1,SCN9Ac.3200A>T (p.Asp1067Val)
c.200A>T (p.Asp67Val)
c.3167A>T (p.Asp1056Val)
c.1877-52A>T
n.870-4538T>A
c.2813A>T (p.Asp938Val)
c.2456A>T (p.Asp819Val)
2g.166272550T>CCA349073218SCN1A-AS1,SCN9Ac.3200A>G (p.Asp1067Gly)
c.200A>G (p.Asp67Gly)
c.3167A>G (p.Asp1056Gly)
c.1877-52A>G
n.870-4538T>C
c.2813A>G (p.Asp938Gly)
c.2456A>G (p.Asp819Gly)
2g.166272550T>GCA349073220SCN1A-AS1,SCN9Ac.3200A>C (p.Asp1067Ala)
c.200A>C (p.Asp67Ala)
c.3167A>C (p.Asp1056Ala)
c.1877-52A>C
n.870-4538T>G
c.2813A>C (p.Asp938Ala)
c.2456A>C (p.Asp819Ala)
2g.166272550_166272567delinsTCCACGCTGCTTCCAAAACA1304962742SCN1A-AS1,SCN9Ac.3183_3200delinsTTTTGGAAGCAGCGTGGA (p.Gly1061=)
c.183_200delinsTTTTGGAAGCAGCGTGGA (p.Gly61=)
c.3150_3167delinsTTTTGGAAGCAGCGTGGA (p.Gly1050=)
c.1877-69_1877-52delinsTTTTGGAAGCAGCGTGGA
n.870-4538_870-4521delinsTCCACGCTGCTTCCAAAA
c.2796_2813delinsTTTTGGAAGCAGCGTGGA (p.Gly932=)
c.2439_2456delinsTTTTGGAAGCAGCGTGGA (p.Gly813=)
2g.166272551C>ACA349073224SCN1A-AS1,SCN9Ac.3199G>T (p.Asp1067Tyr)
c.199G>T (p.Asp67Tyr)
c.3166G>T (p.Asp1056Tyr)
c.1877-53G>T
n.870-4537C>A
c.2812G>T (p.Asp938Tyr)
c.2455G>T (p.Asp819Tyr)
2g.166272551C>GCA349073227SCN1A-AS1,SCN9Ac.3199G>C (p.Asp1067His)
c.199G>C (p.Asp67His)
c.3166G>C (p.Asp1056His)
c.1877-53G>C
n.870-4537C>G
c.2812G>C (p.Asp938His)
c.2455G>C (p.Asp819His)
2g.166272551C>TCA349073230SCN1A-AS1,SCN9Ac.3199G>A (p.Asp1067Asn)
c.199G>A (p.Asp67Asn)
c.3166G>A (p.Asp1056Asn)
c.1877-53G>A
n.870-4537C>T
c.2812G>A (p.Asp938Asn)
c.2455G>A (p.Asp819Asn)
 gnomAD v4
2g.166272555_166272571delCA760206609SCN1A-AS1,SCN9Ac.3183_3199del (p.Phe1062GlnfsTer8)
c.183_199del (p.Phe62GlnfsTer8)
c.3150_3166del (p.Phe1051GlnfsTer8)
c.1877-69_1877-53del
n.870-4533_870-4517del
c.2796_2812del (p.Phe933GlnfsTer8)
c.2439_2455del (p.Phe814GlnfsTer8)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166272552C>ACA429978012SCN1A-AS1,SCN9Ac.3198G>T (p.Val1066=)
c.198G>T (p.Val66=)
c.3165G>T (p.Val1055=)
c.1877-54G>T
n.870-4536C>A
c.2811G>T (p.Val937=)
c.2454G>T (p.Val818=)
2g.166272552C=CA1304962743SCN1A-AS1,SCN9Ac.3198G= (p.Val1066=)
c.198G= (p.Val66=)
c.3165G= (p.Val1055=)
c.1877-54G=
n.870-4536C=
c.2811G= (p.Val937=)
c.2454G= (p.Val818=)
2g.166272552C>GCA429978013SCN1A-AS1,SCN9Ac.3198G>C (p.Val1066=)
c.198G>C (p.Val66=)
c.3165G>C (p.Val1055=)
c.1877-54G>C
n.870-4536C>G
c.2811G>C (p.Val937=)
c.2454G>C (p.Val818=)
2g.166272552C>TCA429978014SCN1A-AS1,SCN9Ac.3198G>A (p.Val1066=)
c.198G>A (p.Val66=)
c.3165G>A (p.Val1055=)
c.1877-54G>A
n.870-4536C>T
c.2811G>A (p.Val937=)
c.2454G>A (p.Val818=)
 dbSNP gnomAD v3 gnomAD v4
2g.166272553A>CCA349073233SCN1A-AS1,SCN9Ac.3197T>G (p.Val1066Gly)
c.197T>G (p.Val66Gly)
c.3164T>G (p.Val1055Gly)
c.1877-55T>G
n.870-4535A>C
c.2810T>G (p.Val937Gly)
c.2453T>G (p.Val818Gly)
2g.166272553A>GCA349073236SCN1A-AS1,SCN9Ac.3197T>C (p.Val1066Ala)
c.197T>C (p.Val66Ala)
c.3164T>C (p.Val1055Ala)
c.1877-55T>C
n.870-4535A>G
c.2810T>C (p.Val937Ala)
c.2453T>C (p.Val818Ala)
 gnomAD v4
2g.166272553A>TCA349073239SCN1A-AS1,SCN9Ac.3197T>A (p.Val1066Glu)
c.197T>A (p.Val66Glu)
c.3164T>A (p.Val1055Glu)
c.1877-55T>A
n.870-4535A>T
c.2810T>A (p.Val937Glu)
c.2453T>A (p.Val818Glu)
2g.166272554C>ACA349073243SCN1A-AS1,SCN9Ac.3196G>T (p.Val1066Leu)
c.196G>T (p.Val66Leu)
c.3163G>T (p.Val1055Leu)
c.1877-56G>T
n.870-4534C>A
c.2809G>T (p.Val937Leu)
c.2452G>T (p.Val818Leu)
2g.166272554C=CA1304962744SCN1A-AS1,SCN9Ac.3196G= (p.Val1066=)
c.196G= (p.Val66=)
c.3163G= (p.Val1055=)
c.1877-56G=
n.870-4534C=
c.2809G= (p.Val937=)
c.2452G= (p.Val818=)
2g.166272554C>GCA349073246SCN1A-AS1,SCN9Ac.3196G>C (p.Val1066Leu)
c.196G>C (p.Val66Leu)
c.3163G>C (p.Val1055Leu)
c.1877-56G>C
n.870-4534C>G
c.2809G>C (p.Val937Leu)
c.2452G>C (p.Val818Leu)
2g.166272554C>TCA349073240SCN1A-AS1,SCN9Ac.3196G>A (p.Val1066Met)
c.196G>A (p.Val66Met)
c.3163G>A (p.Val1055Met)
c.1877-56G>A
n.870-4534C>T
c.2809G>A (p.Val937Met)
c.2452G>A (p.Val818Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272555G>ACA155122SCN1A-AS1,SCN9Ac.3195C>T (p.Ser1065=)
c.195C>T (p.Ser65=)
c.3162C>T (p.Ser1054=)
c.1877-57C>T
n.870-4533G>A
c.2808C>T (p.Ser936=)
c.2451C>T (p.Ser817=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272555G>CCA349073252SCN1A-AS1,SCN9Ac.3195C>G (p.Ser1065Arg)
c.195C>G (p.Ser65Arg)
c.3162C>G (p.Ser1054Arg)
c.1877-57C>G
n.870-4533G>C
c.2808C>G (p.Ser936Arg)
c.2451C>G (p.Ser817Arg)
2g.166272555G=CA1304962745SCN1A-AS1,SCN9Ac.3195C= (p.Ser1065=)
c.195C= (p.Ser65=)
c.3162C= (p.Ser1054=)
c.1877-57C=
n.870-4533G=
c.2808C= (p.Ser936=)
c.2451C= (p.Ser817=)
2g.166272555G>TCA349073255SCN1A-AS1,SCN9Ac.3195C>A (p.Ser1065Arg)
c.195C>A (p.Ser65Arg)
c.3162C>A (p.Ser1054Arg)
c.1877-57C>A
n.870-4533G>T
c.2808C>A (p.Ser936Arg)
c.2451C>A (p.Ser817Arg)
2g.166272556C>ACA349073257SCN1A-AS1,SCN9Ac.3194G>T (p.Ser1065Ile)
c.194G>T (p.Ser65Ile)
c.3161G>T (p.Ser1054Ile)
c.1877-58G>T
n.870-4532C>A
c.2807G>T (p.Ser936Ile)
c.2450G>T (p.Ser817Ile)
2g.166272556C=CA1304962746SCN1A-AS1,SCN9Ac.3194G= (p.Ser1065=)
c.194G= (p.Ser65=)
c.3161G= (p.Ser1054=)
c.1877-58G=
n.870-4532C=
c.2807G= (p.Ser936=)
c.2450G= (p.Ser817=)
2g.166272556C>GCA349073260SCN1A-AS1,SCN9Ac.3194G>C (p.Ser1065Thr)
c.194G>C (p.Ser65Thr)
c.3161G>C (p.Ser1054Thr)
c.1877-58G>C
n.870-4532C>G
c.2807G>C (p.Ser936Thr)
c.2450G>C (p.Ser817Thr)
2g.166272556C>TCA349073262SCN1A-AS1,SCN9Ac.3194G>A (p.Ser1065Asn)
c.194G>A (p.Ser65Asn)
c.3161G>A (p.Ser1054Asn)
c.1877-58G>A
n.870-4532C>T
c.2807G>A (p.Ser936Asn)
c.2450G>A (p.Ser817Asn)
 ClinVar dbSNP COSMIC COSMIC
2g.166272557T>ACA349073272SCN1A-AS1,SCN9Ac.3193A>T (p.Ser1065Cys)
c.193A>T (p.Ser65Cys)
c.3160A>T (p.Ser1054Cys)
c.1877-59A>T
n.870-4531T>A
c.2806A>T (p.Ser936Cys)
c.2449A>T (p.Ser817Cys)
2g.166272557T>CCA349073266SCN1A-AS1,SCN9Ac.3193A>G (p.Ser1065Gly)
c.193A>G (p.Ser65Gly)
c.3160A>G (p.Ser1054Gly)
c.1877-59A>G
n.870-4531T>C
c.2806A>G (p.Ser936Gly)
c.2449A>G (p.Ser817Gly)
2g.166272557T>GCA349073268SCN1A-AS1,SCN9Ac.3193A>C (p.Ser1065Arg)
c.193A>C (p.Ser65Arg)
c.3160A>C (p.Ser1054Arg)
c.1877-59A>C
n.870-4531T>G
c.2806A>C (p.Ser936Arg)
c.2449A>C (p.Ser817Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166272557T=CA1304962747SCN1A-AS1,SCN9Ac.3193A= (p.Ser1065=)
c.193A= (p.Ser65=)
c.3160A= (p.Ser1054=)
c.1877-59A=
n.870-4531T=
c.2806A= (p.Ser936=)
c.2449A= (p.Ser817=)
2g.166272558G>ACA429978023SCN1A-AS1,SCN9Ac.3192C>T (p.Ser1064=)
c.192C>T (p.Ser64=)
c.3159C>T (p.Ser1053=)
c.1877-60C>T
n.870-4530G>A
c.2805C>T (p.Ser935=)
c.2448C>T (p.Ser816=)
2g.166272558G>CCA349073275SCN1A-AS1,SCN9Ac.3192C>G (p.Ser1064Arg)
c.192C>G (p.Ser64Arg)
c.3159C>G (p.Ser1053Arg)
c.1877-60C>G
n.870-4530G>C
c.2805C>G (p.Ser935Arg)
c.2448C>G (p.Ser816Arg)
 dbSNP
2g.166272558G=CA1304962748SCN1A-AS1,SCN9Ac.3192C= (p.Ser1064=)
c.192C= (p.Ser64=)
c.3159C= (p.Ser1053=)
c.1877-60C=
n.870-4530G=
c.2805C= (p.Ser935=)
c.2448C= (p.Ser816=)
2g.166272558G>TCA349073277SCN1A-AS1,SCN9Ac.3192C>A (p.Ser1064Arg)
c.192C>A (p.Ser64Arg)
c.3159C>A (p.Ser1053Arg)
c.1877-60C>A
n.870-4530G>T
c.2805C>A (p.Ser935Arg)
c.2448C>A (p.Ser816Arg)
 dbSNP
2g.166272559C>ACA349073280SCN1A-AS1,SCN9Ac.3191G>T (p.Ser1064Ile)
c.191G>T (p.Ser64Ile)
c.3158G>T (p.Ser1053Ile)
c.1877-61G>T
n.870-4529C>A
c.2804G>T (p.Ser935Ile)
c.2447G>T (p.Ser816Ile)
2g.166272559C=CA1304962749SCN1A-AS1,SCN9Ac.3191G= (p.Ser1064=)
c.191G= (p.Ser64=)
c.3158G= (p.Ser1053=)
c.1877-61G=
n.870-4529C=
c.2804G= (p.Ser935=)
c.2447G= (p.Ser816=)
2g.166272559C>GCA1944126SCN1A-AS1,SCN9Ac.3191G>C (p.Ser1064Thr)
c.191G>C (p.Ser64Thr)
c.3158G>C (p.Ser1053Thr)
c.1877-61G>C
n.870-4529C>G
c.2804G>C (p.Ser935Thr)
c.2447G>C (p.Ser816Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272559C>TCA349073285SCN1A-AS1,SCN9Ac.3191G>A (p.Ser1064Asn)
c.191G>A (p.Ser64Asn)
c.3158G>A (p.Ser1053Asn)
c.1877-61G>A
n.870-4529C>T
c.2804G>A (p.Ser935Asn)
c.2447G>A (p.Ser816Asn)
2g.166272560T>ACA349073289SCN1A-AS1,SCN9Ac.3190A>T (p.Ser1064Cys)
c.190A>T (p.Ser64Cys)
c.3157A>T (p.Ser1053Cys)
c.1877-62A>T
n.870-4528T>A
c.2803A>T (p.Ser935Cys)
c.2446A>T (p.Ser816Cys)
2g.166272560T>CCA349073292SCN1A-AS1,SCN9Ac.3190A>G (p.Ser1064Gly)
c.190A>G (p.Ser64Gly)
c.3157A>G (p.Ser1053Gly)
c.1877-62A>G
n.870-4528T>C
c.2803A>G (p.Ser935Gly)
c.2446A>G (p.Ser816Gly)
2g.166272560T>GCA349073290SCN1A-AS1,SCN9Ac.3190A>C (p.Ser1064Arg)
c.190A>C (p.Ser64Arg)
c.3157A>C (p.Ser1053Arg)
c.1877-62A>C
n.870-4528T>G
c.2803A>C (p.Ser935Arg)
c.2446A>C (p.Ser816Arg)
 gnomAD v4
2g.166272561T>ACA429978028SCN1A-AS1,SCN9Ac.3189A>T (p.Gly1063=)
c.189A>T (p.Gly63=)
c.3156A>T (p.Gly1052=)
c.1877-63A>T
n.870-4527T>A
c.2802A>T (p.Gly934=)
c.2445A>T (p.Gly815=)
2g.166272561T>CCA429978029SCN1A-AS1,SCN9Ac.3189A>G (p.Gly1063=)
c.189A>G (p.Gly63=)
c.3156A>G (p.Gly1052=)
c.1877-63A>G
n.870-4527T>C
c.2802A>G (p.Gly934=)
c.2445A>G (p.Gly815=)
2g.166272561T>GCA429978030SCN1A-AS1,SCN9Ac.3189A>C (p.Gly1063=)
c.189A>C (p.Gly63=)
c.3156A>C (p.Gly1052=)
c.1877-63A>C
n.870-4527T>G
c.2802A>C (p.Gly934=)
c.2445A>C (p.Gly815=)
2g.166272562C>ACA349073295SCN1A-AS1,SCN9Ac.3188G>T (p.Gly1063Val)
c.188G>T (p.Gly63Val)
c.3155G>T (p.Gly1052Val)
c.1877-64G>T
n.870-4526C>A
c.2801G>T (p.Gly934Val)
c.2444G>T (p.Gly815Val)
2g.166272562C=CA1304962750SCN1A-AS1,SCN9Ac.3188G= (p.Gly1063=)
c.188G= (p.Gly63=)
c.3155G= (p.Gly1052=)
c.1877-64G=
n.870-4526C=
c.2801G= (p.Gly934=)
c.2444G= (p.Gly815=)
2g.166272562C>GCA349073296SCN1A-AS1,SCN9Ac.3188G>C (p.Gly1063Ala)
c.188G>C (p.Gly63Ala)
c.3155G>C (p.Gly1052Ala)
c.1877-64G>C
n.870-4526C>G
c.2801G>C (p.Gly934Ala)
c.2444G>C (p.Gly815Ala)
2g.166272562C>TCA59791271SCN1A-AS1,SCN9Ac.3188G>A (p.Gly1063Glu)
c.188G>A (p.Gly63Glu)
c.3155G>A (p.Gly1052Glu)
c.1877-64G>A
n.870-4526C>T
c.2801G>A (p.Gly934Glu)
c.2444G>A (p.Gly815Glu)
 dbSNP
2g.166272563_166272571delCA2753031797SCN1A-AS1,SCN9Ac.3180_3188del (p.Ser1060_Gly1063delinsArg)
c.180_188del (p.Ser60_Gly63delinsArg)
c.3147_3155del (p.Ser1049_Gly1052delinsArg)
c.1877-72_1877-64del
n.870-4525_870-4517del
c.2793_2801del (p.Ser931_Gly934delinsArg)
c.2436_2444del (p.Ser812_Gly815delinsArg)
2g.166272562_166272573delinsCCAAAACCACTGCA1304962751SCN1A-AS1,SCN9Ac.3177_3188delinsCAGTGGTTTTGG (p.Ile1059=)
c.177_188delinsCAGTGGTTTTGG (p.Ile59=)
c.3144_3155delinsCAGTGGTTTTGG (p.Ile1048=)
c.1877-75_1877-64delinsCAGTGGTTTTGG
n.870-4526_870-4515delinsCCAAAACCACTG
c.2790_2801delinsCAGTGGTTTTGG (p.Ile930=)
c.2433_2444delinsCAGTGGTTTTGG (p.Ile811=)
2g.166272563C>ACA349073302SCN1A-AS1,SCN9Ac.3187G>T (p.Gly1063Ter)
c.187G>T (p.Gly63Ter)
c.3154G>T (p.Gly1052Ter)
c.1877-65G>T
n.870-4525C>A
c.2800G>T (p.Gly934Ter)
c.2443G>T (p.Gly815Ter)
 ClinVar dbSNP
2g.166272563C=CA1304962753SCN1A-AS1,SCN9Ac.3187G= (p.Gly1063=)
c.187G= (p.Gly63=)
c.3154G= (p.Gly1052=)
c.1877-65G=
n.870-4525C=
c.2800G= (p.Gly934=)
c.2443G= (p.Gly815=)
2g.166272563C>GCA349073303SCN1A-AS1,SCN9Ac.3187G>C (p.Gly1063Arg)
c.187G>C (p.Gly63Arg)
c.3154G>C (p.Gly1052Arg)
c.1877-65G>C
n.870-4525C>G
c.2800G>C (p.Gly934Arg)
c.2443G>C (p.Gly815Arg)
2g.166272563C>TCA349073306SCN1A-AS1,SCN9Ac.3187G>A (p.Gly1063Arg)
c.187G>A (p.Gly63Arg)
c.3154G>A (p.Gly1052Arg)
c.1877-65G>A
n.870-4525C>T
c.2800G>A (p.Gly934Arg)
c.2443G>A (p.Gly815Arg)
2g.166272563_166272573delCA1304962752SCN1A-AS1,SCN9Ac.3177_3187del (p.Ile1059MetfsTer13)
c.177_187del (p.Ile59MetfsTer13)
c.3144_3154del (p.Ile1048MetfsTer13)
c.1877-75_1877-65del
n.870-4525_870-4515del
c.2790_2800del (p.Ile930MetfsTer13)
c.2433_2443del (p.Ile811MetfsTer13)
 dbSNP
2g.166272564A>CCA349073309SCN1A-AS1,SCN9Ac.3186T>G (p.Phe1062Leu)
c.186T>G (p.Phe62Leu)
c.3153T>G (p.Phe1051Leu)
c.1877-66T>G
n.870-4524A>C
c.2799T>G (p.Phe933Leu)
c.2442T>G (p.Phe814Leu)
2g.166272564A>GCA429978032SCN1A-AS1,SCN9Ac.3186T>C (p.Phe1062=)
c.186T>C (p.Phe62=)
c.3153T>C (p.Phe1051=)
c.1877-66T>C
n.870-4524A>G
c.2799T>C (p.Phe933=)
c.2442T>C (p.Phe814=)
2g.166272564A>TCA349073312SCN1A-AS1,SCN9Ac.3186T>A (p.Phe1062Leu)
c.186T>A (p.Phe62Leu)
c.3153T>A (p.Phe1051Leu)
c.1877-66T>A
n.870-4524A>T
c.2799T>A (p.Phe933Leu)
c.2442T>A (p.Phe814Leu)
2g.166272565A>CCA349073315SCN1A-AS1,SCN9Ac.3185T>G (p.Phe1062Cys)
c.185T>G (p.Phe62Cys)
c.3152T>G (p.Phe1051Cys)
c.1877-67T>G
n.870-4523A>C
c.2798T>G (p.Phe933Cys)
c.2441T>G (p.Phe814Cys)
2g.166272565A>GCA349073318SCN1A-AS1,SCN9Ac.3185T>C (p.Phe1062Ser)
c.185T>C (p.Phe62Ser)
c.3152T>C (p.Phe1051Ser)
c.1877-67T>C
n.870-4523A>G
c.2798T>C (p.Phe933Ser)
c.2441T>C (p.Phe814Ser)
2g.166272565A>TCA349073321SCN1A-AS1,SCN9Ac.3185T>A (p.Phe1062Tyr)
c.185T>A (p.Phe62Tyr)
c.3152T>A (p.Phe1051Tyr)
c.1877-67T>A
n.870-4523A>T
c.2798T>A (p.Phe933Tyr)
c.2441T>A (p.Phe814Tyr)
2g.166272566A>CCA349073325SCN1A-AS1,SCN9Ac.3184T>G (p.Phe1062Val)
c.184T>G (p.Phe62Val)
c.3151T>G (p.Phe1051Val)
c.1877-68T>G
n.870-4522A>C
c.2797T>G (p.Phe933Val)
c.2440T>G (p.Phe814Val)
2g.166272566A>GCA349073324SCN1A-AS1,SCN9Ac.3184T>C (p.Phe1062Leu)
c.184T>C (p.Phe62Leu)
c.3151T>C (p.Phe1051Leu)
c.1877-68T>C
n.870-4522A>G
c.2797T>C (p.Phe933Leu)
c.2440T>C (p.Phe814Leu)
2g.166272566A>TCA349073323SCN1A-AS1,SCN9Ac.3184T>A (p.Phe1062Ile)
c.184T>A (p.Phe62Ile)
c.3151T>A (p.Phe1051Ile)
c.1877-68T>A
n.870-4522A>T
c.2797T>A (p.Phe933Ile)
c.2440T>A (p.Phe814Ile)
2g.166272567A>CCA429978034SCN1A-AS1,SCN9Ac.3183T>G (p.Gly1061=)
c.183T>G (p.Gly61=)
c.3150T>G (p.Gly1050=)
c.1877-69T>G
n.870-4521A>C
c.2796T>G (p.Gly932=)
c.2439T>G (p.Gly813=)
2g.166272567A>GCA429978035SCN1A-AS1,SCN9Ac.3183T>C (p.Gly1061=)
c.183T>C (p.Gly61=)
c.3150T>C (p.Gly1050=)
c.1877-69T>C
n.870-4521A>G
c.2796T>C (p.Gly932=)
c.2439T>C (p.Gly813=)
2g.166272567A>TCA429978036SCN1A-AS1,SCN9Ac.3183T>A (p.Gly1061=)
c.183T>A (p.Gly61=)
c.3150T>A (p.Gly1050=)
c.1877-69T>A
n.870-4521A>T
c.2796T>A (p.Gly932=)
c.2439T>A (p.Gly813=)
2g.166272568C>ACA349073327SCN1A-AS1,SCN9Ac.3182G>T (p.Gly1061Val)
c.182G>T (p.Gly61Val)
c.3149G>T (p.Gly1050Val)
c.1877-70G>T
n.870-4520C>A
c.2795G>T (p.Gly932Val)
c.2438G>T (p.Gly813Val)
2g.166272568C>GCA349073340SCN1A-AS1,SCN9Ac.3182G>C (p.Gly1061Ala)
c.182G>C (p.Gly61Ala)
c.3149G>C (p.Gly1050Ala)
c.1877-70G>C
n.870-4520C>G
c.2795G>C (p.Gly932Ala)
c.2438G>C (p.Gly813Ala)
2g.166272568C>TCA349073337SCN1A-AS1,SCN9Ac.3182G>A (p.Gly1061Asp)
c.182G>A (p.Gly61Asp)
c.3149G>A (p.Gly1050Asp)
c.1877-70G>A
n.870-4520C>T
c.2795G>A (p.Gly932Asp)
c.2438G>A (p.Gly813Asp)
 ClinVar
2g.166272569C>ACA349073343SCN1A-AS1,SCN9Ac.3181G>T (p.Gly1061Cys)
c.181G>T (p.Gly61Cys)
c.3148G>T (p.Gly1050Cys)
c.1877-71G>T
n.870-4519C>A
c.2794G>T (p.Gly932Cys)
c.2437G>T (p.Gly813Cys)
2g.166272569C>GCA349073345SCN1A-AS1,SCN9Ac.3181G>C (p.Gly1061Arg)
c.181G>C (p.Gly61Arg)
c.3148G>C (p.Gly1050Arg)
c.1877-71G>C
n.870-4519C>G
c.2794G>C (p.Gly932Arg)
c.2437G>C (p.Gly813Arg)
2g.166272569C>TCA349073347SCN1A-AS1,SCN9Ac.3181G>A (p.Gly1061Ser)
c.181G>A (p.Gly61Ser)
c.3148G>A (p.Gly1050Ser)
c.1877-71G>A
n.870-4519C>T
c.2794G>A (p.Gly932Ser)
c.2437G>A (p.Gly813Ser)
2g.166272570A=CA1304962754SCN1A-AS1,SCN9Ac.3180T= (p.Ser1060=)
c.180T= (p.Ser60=)
c.3147T= (p.Ser1049=)
c.1877-72T=
n.870-4518A=
c.2793T= (p.Ser931=)
c.2436T= (p.Ser812=)
2g.166272570A>CCA59791272SCN1A-AS1,SCN9Ac.3180T>G (p.Ser1060Arg)
c.180T>G (p.Ser60Arg)
c.3147T>G (p.Ser1049Arg)
c.1877-72T>G
n.870-4518A>C
c.2793T>G (p.Ser931Arg)
c.2436T>G (p.Ser812Arg)
 ClinVar dbSNP gnomAD v4
2g.166272570A>GCA59791277SCN1A-AS1,SCN9Ac.3180T>C (p.Ser1060=)
c.180T>C (p.Ser60=)
c.3147T>C (p.Ser1049=)
c.1877-72T>C
n.870-4518A>G
c.2793T>C (p.Ser931=)
c.2436T>C (p.Ser812=)
 ClinVar dbSNP gnomAD v4
2g.166272570A>TCA349073354SCN1A-AS1,SCN9Ac.3180T>A (p.Ser1060Arg)
c.180T>A (p.Ser60Arg)
c.3147T>A (p.Ser1049Arg)
c.1877-72T>A
n.870-4518A>T
c.2793T>A (p.Ser931Arg)
c.2436T>A (p.Ser812Arg)
2g.166272571C>ACA349073357SCN1A-AS1,SCN9Ac.3179G>T (p.Ser1060Ile)
c.179G>T (p.Ser60Ile)
c.3146G>T (p.Ser1049Ile)
c.1877-73G>T
n.870-4517C>A
c.2792G>T (p.Ser931Ile)
c.2435G>T (p.Ser812Ile)
2g.166272571C>GCA349073360SCN1A-AS1,SCN9Ac.3179G>C (p.Ser1060Thr)
c.179G>C (p.Ser60Thr)
c.3146G>C (p.Ser1049Thr)
c.1877-73G>C
n.870-4517C>G
c.2792G>C (p.Ser931Thr)
c.2435G>C (p.Ser812Thr)
2g.166272571C>TCA349073363SCN1A-AS1,SCN9Ac.3179G>A (p.Ser1060Asn)
c.179G>A (p.Ser60Asn)
c.3146G>A (p.Ser1049Asn)
c.1877-73G>A
n.870-4517C>T
c.2792G>A (p.Ser931Asn)
c.2435G>A (p.Ser812Asn)
2g.166272572T>ACA349073366SCN1A-AS1,SCN9Ac.3178A>T (p.Ser1060Cys)
c.178A>T (p.Ser60Cys)
c.3145A>T (p.Ser1049Cys)
c.1877-74A>T
n.870-4516T>A
c.2791A>T (p.Ser931Cys)
c.2434A>T (p.Ser812Cys)
2g.166272572T>CCA349073371SCN1A-AS1,SCN9Ac.3178A>G (p.Ser1060Gly)
c.178A>G (p.Ser60Gly)
c.3145A>G (p.Ser1049Gly)
c.1877-74A>G
n.870-4516T>C
c.2791A>G (p.Ser931Gly)
c.2434A>G (p.Ser812Gly)
2g.166272572T>GCA349073373SCN1A-AS1,SCN9Ac.3178A>C (p.Ser1060Arg)
c.178A>C (p.Ser60Arg)
c.3145A>C (p.Ser1049Arg)
c.1877-74A>C
n.870-4516T>G
c.2791A>C (p.Ser931Arg)
c.2434A>C (p.Ser812Arg)
2g.166272573G>ACA429978042SCN1A-AS1,SCN9Ac.3177C>T (p.Ile1059=)
c.177C>T (p.Ile59=)
c.3144C>T (p.Ile1048=)
c.1877-75C>T
n.870-4515G>A
c.2790C>T (p.Ile930=)
c.2433C>T (p.Ile811=)
 dbSNP
2g.166272573G>CCA1944127SCN1A-AS1,SCN9Ac.3177C>G (p.Ile1059Met)
c.177C>G (p.Ile59Met)
c.3144C>G (p.Ile1048Met)
c.1877-75C>G
n.870-4515G>C
c.2790C>G (p.Ile930Met)
c.2433C>G (p.Ile811Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272573G=CA1304962755SCN1A-AS1,SCN9Ac.3177C= (p.Ile1059=)
c.177C= (p.Ile59=)
c.3144C= (p.Ile1048=)
c.1877-75C=
n.870-4515G=
c.2790C= (p.Ile930=)
c.2433C= (p.Ile811=)
2g.166272573G>TCA429978045SCN1A-AS1,SCN9Ac.3177C>A (p.Ile1059=)
c.177C>A (p.Ile59=)
c.3144C>A (p.Ile1048=)
c.1877-75C>A
n.870-4515G>T
c.2790C>A (p.Ile930=)
c.2433C>A (p.Ile811=)
2g.166272573_166272574delCA2753031798SCN1A-AS1,SCN9Ac.3176_3177del (p.Ile1059LysfsTer16)
c.176_177del (p.Ile59LysfsTer16)
c.3143_3144del (p.Ile1048LysfsTer16)
c.1877-76_1877-75del
n.870-4515_870-4514del
c.2789_2790del (p.Ile930LysfsTer16)
c.2432_2433del (p.Ile811LysfsTer16)
2g.166272574A=CA1304962756SCN1A-AS1,SCN9Ac.3176T= (p.Ile1059=)
c.176T= (p.Ile59=)
c.3143T= (p.Ile1048=)
c.1877-76T=
n.870-4514A=
c.2789T= (p.Ile930=)
c.2432T= (p.Ile811=)
2g.166272574A>CCA349073380SCN1A-AS1,SCN9Ac.3176T>G (p.Ile1059Ser)
c.176T>G (p.Ile59Ser)
c.3143T>G (p.Ile1048Ser)
c.1877-76T>G
n.870-4514A>C
c.2789T>G (p.Ile930Ser)
c.2432T>G (p.Ile811Ser)
2g.166272574A>GCA349073386SCN1A-AS1,SCN9Ac.3176T>C (p.Ile1059Thr)
c.176T>C (p.Ile59Thr)
c.3143T>C (p.Ile1048Thr)
c.1877-76T>C
n.870-4514A>G
c.2789T>C (p.Ile930Thr)
c.2432T>C (p.Ile811Thr)
2g.166272574A>TCA349073383SCN1A-AS1,SCN9Ac.3176T>A (p.Ile1059Asn)
c.176T>A (p.Ile59Asn)
c.3143T>A (p.Ile1048Asn)
c.1877-76T>A
n.870-4514A>T
c.2789T>A (p.Ile930Asn)
c.2432T>A (p.Ile811Asn)
 dbSNP
2g.166272575T>ACA349073388SCN1A-AS1,SCN9Ac.3175A>T (p.Ile1059Phe)
c.175A>T (p.Ile59Phe)
c.3142A>T (p.Ile1048Phe)
c.1877-77A>T
n.870-4513T>A
c.2788A>T (p.Ile930Phe)
c.2431A>T (p.Ile811Phe)
2g.166272575T>CCA59791289SCN1A-AS1,SCN9Ac.3175A>G (p.Ile1059Val)
c.175A>G (p.Ile59Val)
c.3142A>G (p.Ile1048Val)
c.1877-77A>G
n.870-4513T>C
c.2788A>G (p.Ile930Val)
c.2431A>G (p.Ile811Val)
 dbSNP gnomAD v3 gnomAD v4
2g.166272575T>GCA349073392SCN1A-AS1,SCN9Ac.3175A>C (p.Ile1059Leu)
c.175A>C (p.Ile59Leu)
c.3142A>C (p.Ile1048Leu)
c.1877-77A>C
n.870-4513T>G
c.2788A>C (p.Ile930Leu)
c.2431A>C (p.Ile811Leu)
2g.166272575T=CA1304962757SCN1A-AS1,SCN9Ac.3175A= (p.Ile1059=)
c.175A= (p.Ile59=)
c.3142A= (p.Ile1048=)
c.1877-77A=
n.870-4513T=
c.2788A= (p.Ile930=)
c.2431A= (p.Ile811=)
2g.166272576T>ACA349073397SCN1A-AS1,SCN9Ac.3174A>T (p.Lys1058Asn)
c.174A>T (p.Lys58Asn)
c.3141A>T (p.Lys1047Asn)
c.1877-78A>T
n.870-4512T>A
c.2787A>T (p.Lys929Asn)
c.2430A>T (p.Lys810Asn)
 ClinVar dbSNP COSMIC
2g.166272576T>CCA429978047SCN1A-AS1,SCN9Ac.3174A>G (p.Lys1058=)
c.174A>G (p.Lys58=)
c.3141A>G (p.Lys1047=)
c.1877-78A>G
n.870-4512T>C
c.2787A>G (p.Lys929=)
c.2430A>G (p.Lys810=)
2g.166272576T>GCA349073399SCN1A-AS1,SCN9Ac.3174A>C (p.Lys1058Asn)
c.174A>C (p.Lys58Asn)
c.3141A>C (p.Lys1047Asn)
c.1877-78A>C
n.870-4512T>G
c.2787A>C (p.Lys929Asn)
c.2430A>C (p.Lys810Asn)
 gnomAD v4
2g.166272577T>ACA349073402SCN1A-AS1,SCN9Ac.3173A>T (p.Lys1058Ile)
c.173A>T (p.Lys58Ile)
c.3140A>T (p.Lys1047Ile)
c.1877-79A>T
n.870-4511T>A
c.2786A>T (p.Lys929Ile)
c.2429A>T (p.Lys810Ile)
2g.166272577T>CCA349073405SCN1A-AS1,SCN9Ac.3173A>G (p.Lys1058Arg)
c.173A>G (p.Lys58Arg)
c.3140A>G (p.Lys1047Arg)
c.1877-79A>G
n.870-4511T>C
c.2786A>G (p.Lys929Arg)
c.2429A>G (p.Lys810Arg)
2g.166272577T>GCA349073408SCN1A-AS1,SCN9Ac.3173A>C (p.Lys1058Thr)
c.173A>C (p.Lys58Thr)
c.3140A>C (p.Lys1047Thr)
c.1877-79A>C
n.870-4511T>G
c.2786A>C (p.Lys929Thr)
c.2429A>C (p.Lys810Thr)
2g.166272578T>ACA349073411SCN1A-AS1,SCN9Ac.3172A>T (p.Lys1058Ter)
c.172A>T (p.Lys58Ter)
c.3139A>T (p.Lys1047Ter)
c.1877-80A>T
n.870-4510T>A
c.2785A>T (p.Lys929Ter)
c.2428A>T (p.Lys810Ter)
 dbSNP
2g.166272578T>CCA349073413SCN1A-AS1,SCN9Ac.3172A>G (p.Lys1058Glu)
c.172A>G (p.Lys58Glu)
c.3139A>G (p.Lys1047Glu)
c.1877-80A>G
n.870-4510T>C
c.2785A>G (p.Lys929Glu)
c.2428A>G (p.Lys810Glu)
2g.166272578T>GCA1944128SCN1A-AS1,SCN9Ac.3172A>C (p.Lys1058Gln)
c.172A>C (p.Lys58Gln)
c.3139A>C (p.Lys1047Gln)
c.1877-80A>C
n.870-4510T>G
c.2785A>C (p.Lys929Gln)
c.2428A>C (p.Lys810Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272578T=CA1304962758SCN1A-AS1,SCN9Ac.3172A= (p.Lys1058=)
c.172A= (p.Lys58=)
c.3139A= (p.Lys1047=)
c.1877-80A=
n.870-4510T=
c.2785A= (p.Lys929=)
c.2428A= (p.Lys810=)
2g.166272579A=CA1304962759SCN1A-AS1,SCN9Ac.3171T= (p.Asp1057=)
c.171T= (p.Asp57=)
c.3138T= (p.Asp1046=)
c.1877-81T=
n.870-4509A=
c.2784T= (p.Asp928=)
c.2427T= (p.Asp809=)
2g.166272579A>CCA349073421SCN1A-AS1,SCN9Ac.3171T>G (p.Asp1057Glu)
c.171T>G (p.Asp57Glu)
c.3138T>G (p.Asp1046Glu)
c.1877-81T>G
n.870-4509A>C
c.2784T>G (p.Asp928Glu)
c.2427T>G (p.Asp809Glu)
2g.166272579A>GCA59791359SCN1A-AS1,SCN9Ac.3171T>C (p.Asp1057=)
c.171T>C (p.Asp57=)
c.3138T>C (p.Asp1046=)
c.1877-81T>C
n.870-4509A>G
c.2784T>C (p.Asp928=)
c.2427T>C (p.Asp809=)
 dbSNP gnomAD v4
2g.166272579A>TCA349073417SCN1A-AS1,SCN9Ac.3171T>A (p.Asp1057Glu)
c.171T>A (p.Asp57Glu)
c.3138T>A (p.Asp1046Glu)
c.1877-81T>A
n.870-4509A>T
c.2784T>A (p.Asp928Glu)
c.2427T>A (p.Asp809Glu)
2g.166272580T>ACA349073425SCN1A-AS1,SCN9Ac.3170A>T (p.Asp1057Val)
c.170A>T (p.Asp57Val)
c.3137A>T (p.Asp1046Val)
c.1877-82A>T
n.870-4508T>A
c.2783A>T (p.Asp928Val)
c.2426A>T (p.Asp809Val)
2g.166272580T>CCA349073427SCN1A-AS1,SCN9Ac.3170A>G (p.Asp1057Gly)
c.170A>G (p.Asp57Gly)
c.3137A>G (p.Asp1046Gly)
c.1877-82A>G
n.870-4508T>C
c.2783A>G (p.Asp928Gly)
c.2426A>G (p.Asp809Gly)
2g.166272580T>GCA349073428SCN1A-AS1,SCN9Ac.3170A>C (p.Asp1057Ala)
c.170A>C (p.Asp57Ala)
c.3137A>C (p.Asp1046Ala)
c.1877-82A>C
n.870-4508T>G
c.2783A>C (p.Asp928Ala)
c.2426A>C (p.Asp809Ala)
2g.166272581C>ACA349073432SCN1A-AS1,SCN9Ac.3169G>T (p.Asp1057Tyr)
c.169G>T (p.Asp57Tyr)
c.3136G>T (p.Asp1046Tyr)
c.1877-83G>T
n.870-4507C>A
c.2782G>T (p.Asp928Tyr)
c.2425G>T (p.Asp809Tyr)
2g.166272581C=CA1304962760SCN1A-AS1,SCN9Ac.3169G= (p.Asp1057=)
c.169G= (p.Asp57=)
c.3136G= (p.Asp1046=)
c.1877-83G=
n.870-4507C=
c.2782G= (p.Asp928=)
c.2425G= (p.Asp809=)
2g.166272581C>GCA349073439SCN1A-AS1,SCN9Ac.3169G>C (p.Asp1057His)
c.169G>C (p.Asp57His)
c.3136G>C (p.Asp1046His)
c.1877-83G>C
n.870-4507C>G
c.2782G>C (p.Asp928His)
c.2425G>C (p.Asp809His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272581C>TCA59791366SCN1A-AS1,SCN9Ac.3169G>A (p.Asp1057Asn)
c.169G>A (p.Asp57Asn)
c.3136G>A (p.Asp1046Asn)
c.1877-83G>A
n.870-4507C>T
c.2782G>A (p.Asp928Asn)
c.2425G>A (p.Asp809Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166272582T>ACA59791368SCN1A-AS1,SCN9Ac.3168A>T (p.Lys1056Asn)
c.168A>T (p.Lys56Asn)
c.3135A>T (p.Lys1045Asn)
c.1877-84A>T
n.870-4506T>A
c.2781A>T (p.Lys927Asn)
c.2424A>T (p.Lys808Asn)
 dbSNP gnomAD v4
2g.166272582T>CCA1944129SCN1A-AS1,SCN9Ac.3168A>G (p.Lys1056=)
c.168A>G (p.Lys56=)
c.3135A>G (p.Lys1045=)
c.1877-84A>G
n.870-4506T>C
c.2781A>G (p.Lys927=)
c.2424A>G (p.Lys808=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272582T>GCA349073443SCN1A-AS1,SCN9Ac.3168A>C (p.Lys1056Asn)
c.168A>C (p.Lys56Asn)
c.3135A>C (p.Lys1045Asn)
c.1877-84A>C
n.870-4506T>G
c.2781A>C (p.Lys927Asn)
c.2424A>C (p.Lys808Asn)
2g.166272582T=CA1304962761SCN1A-AS1,SCN9Ac.3168A= (p.Lys1056=)
c.168A= (p.Lys56=)
c.3135A= (p.Lys1045=)
c.1877-84A=
n.870-4506T=
c.2781A= (p.Lys927=)
c.2424A= (p.Lys808=)
2g.166272586delCA645519732SCN1A-AS1,SCN9Ac.3168del (p.Asp1057IlefsTer14)
c.168del (p.Asp57IlefsTer14)
c.3135del (p.Asp1046IlefsTer14)
c.1877-84del
n.870-4502del
c.2781del (p.Asp928IlefsTer14)
c.2424del (p.Asp809IlefsTer14)
 COSMIC COSMIC
2g.166272583T>ACA349073449SCN1A-AS1,SCN9Ac.3167A>T (p.Lys1056Ile)
c.167A>T (p.Lys56Ile)
c.3134A>T (p.Lys1045Ile)
c.1877-85A>T
n.870-4505T>A
c.2780A>T (p.Lys927Ile)
c.2423A>T (p.Lys808Ile)
2g.166272583T>CCA1944130SCN1A-AS1,SCN9Ac.3167A>G (p.Lys1056Arg)
c.167A>G (p.Lys56Arg)
c.3134A>G (p.Lys1045Arg)
c.1877-85A>G
n.870-4505T>C
c.2780A>G (p.Lys927Arg)
c.2423A>G (p.Lys808Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272583T>GCA349073452SCN1A-AS1,SCN9Ac.3167A>C (p.Lys1056Thr)
c.167A>C (p.Lys56Thr)
c.3134A>C (p.Lys1045Thr)
c.1877-85A>C
n.870-4505T>G
c.2780A>C (p.Lys927Thr)
c.2423A>C (p.Lys808Thr)
2g.166272583T=CA1304962762SCN1A-AS1,SCN9Ac.3167A= (p.Lys1056=)
c.167A= (p.Lys56=)
c.3134A= (p.Lys1045=)
c.1877-85A=
n.870-4505T=
c.2780A= (p.Lys927=)
c.2423A= (p.Lys808=)
2g.166272584T>ACA349073457SCN1A-AS1,SCN9Ac.3166A>T (p.Lys1056Ter)
c.166A>T (p.Lys56Ter)
c.3133A>T (p.Lys1045Ter)
c.1877-86A>T
n.870-4504T>A
c.2779A>T (p.Lys927Ter)
c.2422A>T (p.Lys808Ter)
 dbSNP COSMIC COSMIC
2g.166272584T>CCA349073459SCN1A-AS1,SCN9Ac.3166A>G (p.Lys1056Glu)
c.166A>G (p.Lys56Glu)
c.3133A>G (p.Lys1045Glu)
c.1877-86A>G
n.870-4504T>C
c.2779A>G (p.Lys927Glu)
c.2422A>G (p.Lys808Glu)
2g.166272584T>GCA349073461SCN1A-AS1,SCN9Ac.3166A>C (p.Lys1056Gln)
c.166A>C (p.Lys56Gln)
c.3133A>C (p.Lys1045Gln)
c.1877-86A>C
n.870-4504T>G
c.2779A>C (p.Lys927Gln)
c.2422A>C (p.Lys808Gln)
2g.166272584T=CA1304962763SCN1A-AS1,SCN9Ac.3166A= (p.Lys1056=)
c.166A= (p.Lys56=)
c.3133A= (p.Lys1045=)
c.1877-86A=
n.870-4504T=
c.2779A= (p.Lys927=)
c.2422A= (p.Lys808=)
2g.166272585T>ACA349073463SCN1A-AS1,SCN9Ac.3165A>T (p.Glu1055Asp)
c.165A>T (p.Glu55Asp)
c.3132A>T (p.Glu1044Asp)
c.1877-87A>T
n.870-4503T>A
c.2778A>T (p.Glu926Asp)
c.2421A>T (p.Glu807Asp)
2g.166272585T>CCA59791372SCN1A-AS1,SCN9Ac.3165A>G (p.Glu1055=)
c.165A>G (p.Glu55=)
c.3132A>G (p.Glu1044=)
c.1877-87A>G
n.870-4503T>C
c.2778A>G (p.Glu926=)
c.2421A>G (p.Glu807=)
 dbSNP gnomAD v4
2g.166272585T>GCA349073466SCN1A-AS1,SCN9Ac.3165A>C (p.Glu1055Asp)
c.165A>C (p.Glu55Asp)
c.3132A>C (p.Glu1044Asp)
c.1877-87A>C
n.870-4503T>G
c.2778A>C (p.Glu926Asp)
c.2421A>C (p.Glu807Asp)
 ClinVar
2g.166272585T=CA1304962764SCN1A-AS1,SCN9Ac.3165A= (p.Glu1055=)
c.165A= (p.Glu55=)
c.3132A= (p.Glu1044=)
c.1877-87A=
n.870-4503T=
c.2778A= (p.Glu926=)
c.2421A= (p.Glu807=)
2g.166272586T>ACA349073467SCN1A-AS1,SCN9Ac.3164A>T (p.Glu1055Val)
c.164A>T (p.Glu55Val)
c.3131A>T (p.Glu1044Val)
c.1877-88A>T
n.870-4502T>A
c.2777A>T (p.Glu926Val)
c.2420A>T (p.Glu807Val)
2g.166272586T>CCA349073468SCN1A-AS1,SCN9Ac.3164A>G (p.Glu1055Gly)
c.164A>G (p.Glu55Gly)
c.3131A>G (p.Glu1044Gly)
c.1877-88A>G
n.870-4502T>C
c.2777A>G (p.Glu926Gly)
c.2420A>G (p.Glu807Gly)
 gnomAD v4
2g.166272586T>GCA349073470SCN1A-AS1,SCN9Ac.3164A>C (p.Glu1055Ala)
c.164A>C (p.Glu55Ala)
c.3131A>C (p.Glu1044Ala)
c.1877-88A>C
n.870-4502T>G
c.2777A>C (p.Glu926Ala)
c.2420A>C (p.Glu807Ala)
 gnomAD v4
2g.166272587C>ACA349073472SCN1A-AS1,SCN9Ac.3163G>T (p.Glu1055Ter)
c.163G>T (p.Glu55Ter)
c.3130G>T (p.Glu1044Ter)
c.1877-89G>T
n.870-4501C>A
c.2776G>T (p.Glu926Ter)
c.2419G>T (p.Glu807Ter)
 dbSNP
2g.166272587C=CA1304962765SCN1A-AS1,SCN9Ac.3163G= (p.Glu1055=)
c.163G= (p.Glu55=)
c.3130G= (p.Glu1044=)
c.1877-89G=
n.870-4501C=
c.2776G= (p.Glu926=)
c.2419G= (p.Glu807=)
2g.166272587C>GCA349073474SCN1A-AS1,SCN9Ac.3163G>C (p.Glu1055Gln)
c.163G>C (p.Glu55Gln)
c.3130G>C (p.Glu1044Gln)
c.1877-89G>C
n.870-4501C>G
c.2776G>C (p.Glu926Gln)
c.2419G>C (p.Glu807Gln)
2g.166272587C>TCA349073483SCN1A-AS1,SCN9Ac.3163G>A (p.Glu1055Lys)
c.163G>A (p.Glu55Lys)
c.3130G>A (p.Glu1044Lys)
c.1877-89G>A
n.870-4501C>T
c.2776G>A (p.Glu926Lys)
c.2419G>A (p.Glu807Lys)
 ClinVar dbSNP COSMIC COSMIC
2g.166272588C>ACA349073488SCN1A-AS1,SCN9Ac.3162G>T (p.Lys1054Asn)
c.162G>T (p.Lys54Asn)
c.3129G>T (p.Lys1043Asn)
c.1877-90G>T
n.870-4500C>A
c.2775G>T (p.Lys925Asn)
c.2418G>T (p.Lys806Asn)
2g.166272588C=CA1304962766SCN1A-AS1,SCN9Ac.3162G= (p.Lys1054=)
c.162G= (p.Lys54=)
c.3129G= (p.Lys1043=)
c.1877-90G=
n.870-4500C=
c.2775G= (p.Lys925=)
c.2418G= (p.Lys806=)
2g.166272588C>GCA59791394SCN1A-AS1,SCN9Ac.3162G>C (p.Lys1054Asn)
c.162G>C (p.Lys54Asn)
c.3129G>C (p.Lys1043Asn)
c.1877-90G>C
n.870-4500C>G
c.2775G>C (p.Lys925Asn)
c.2418G>C (p.Lys806Asn)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166272588C>TCA429978065SCN1A-AS1,SCN9Ac.3162G>A (p.Lys1054=)
c.162G>A (p.Lys54=)
c.3129G>A (p.Lys1043=)
c.1877-90G>A
n.870-4500C>T
c.2775G>A (p.Lys925=)
c.2418G>A (p.Lys806=)
 dbSNP COSMIC COSMIC
2g.166272589T>ACA349073493SCN1A-AS1,SCN9Ac.3161A>T (p.Lys1054Met)
c.161A>T (p.Lys54Met)
c.3128A>T (p.Lys1043Met)
c.1877-91A>T
n.870-4499T>A
c.2774A>T (p.Lys925Met)
c.2417A>T (p.Lys806Met)
2g.166272589T>CCA349073502SCN1A-AS1,SCN9Ac.3161A>G (p.Lys1054Arg)
c.161A>G (p.Lys54Arg)
c.3128A>G (p.Lys1043Arg)
c.1877-91A>G
n.870-4499T>C
c.2774A>G (p.Lys925Arg)
c.2417A>G (p.Lys806Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.166272589T>GCA349073503SCN1A-AS1,SCN9Ac.3161A>C (p.Lys1054Thr)
c.161A>C (p.Lys54Thr)
c.3128A>C (p.Lys1043Thr)
c.1877-91A>C
n.870-4499T>G
c.2774A>C (p.Lys925Thr)
c.2417A>C (p.Lys806Thr)
2g.166272589T=CA1304962767SCN1A-AS1,SCN9Ac.3161A= (p.Lys1054=)
c.161A= (p.Lys54=)
c.3128A= (p.Lys1043=)
c.1877-91A=
n.870-4499T=
c.2774A= (p.Lys925=)
c.2417A= (p.Lys806=)
2g.166272590T>ACA349073504SCN1A-AS1,SCN9Ac.3160A>T (p.Lys1054Ter)
c.160A>T (p.Lys54Ter)
c.3127A>T (p.Lys1043Ter)
c.1877-92A>T
n.870-4498T>A
c.2773A>T (p.Lys925Ter)
c.2416A>T (p.Lys806Ter)
 dbSNP
2g.166272590T>CCA349073507SCN1A-AS1,SCN9Ac.3160A>G (p.Lys1054Glu)
c.160A>G (p.Lys54Glu)
c.3127A>G (p.Lys1043Glu)
c.1877-92A>G
n.870-4498T>C
c.2773A>G (p.Lys925Glu)
c.2416A>G (p.Lys806Glu)
 dbSNP
2g.166272590T>GCA349073505SCN1A-AS1,SCN9Ac.3160A>C (p.Lys1054Gln)
c.160A>C (p.Lys54Gln)
c.3127A>C (p.Lys1043Gln)
c.1877-92A>C
n.870-4498T>G
c.2773A>C (p.Lys925Gln)
c.2416A>C (p.Lys806Gln)
 ClinVar dbSNP gnomAD v4
2g.166272590T=CA1304962768SCN1A-AS1,SCN9Ac.3160A= (p.Lys1054=)
c.160A= (p.Lys54=)
c.3127A= (p.Lys1043=)
c.1877-92A=
n.870-4498T=
c.2773A= (p.Lys925=)
c.2416A= (p.Lys806=)
2g.166272591G>ACA429978069SCN1A-AS1,SCN9Ac.3159C>T (p.Leu1053=)
c.159C>T (p.Leu53=)
c.3126C>T (p.Leu1042=)
c.1877-93C>T
n.870-4497G>A
c.2772C>T (p.Leu924=)
c.2415C>T (p.Leu805=)
2g.166272591G>CCA1944131SCN1A-AS1,SCN9Ac.3159C>G (p.Leu1053=)
c.159C>G (p.Leu53=)
c.3126C>G (p.Leu1042=)
c.1877-93C>G
n.870-4497G>C
c.2772C>G (p.Leu924=)
c.2415C>G (p.Leu805=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272591G=CA1304962769SCN1A-AS1,SCN9Ac.3159C= (p.Leu1053=)
c.159C= (p.Leu53=)
c.3126C= (p.Leu1042=)
c.1877-93C=
n.870-4497G=
c.2772C= (p.Leu924=)
c.2415C= (p.Leu805=)
2g.166272591G>TCA429978072SCN1A-AS1,SCN9Ac.3159C>A (p.Leu1053=)
c.159C>A (p.Leu53=)
c.3126C>A (p.Leu1042=)
c.1877-93C>A
n.870-4497G>T
c.2772C>A (p.Leu924=)
c.2415C>A (p.Leu805=)
2g.166272592A=CA1304962770SCN1A-AS1,SCN9Ac.3158T= (p.Leu1053=)
c.158T= (p.Leu53=)
c.3125T= (p.Leu1042=)
c.1877-94T=
n.870-4496A=
c.2771T= (p.Leu924=)
c.2414T= (p.Leu805=)
2g.166272592A>CCA349073521SCN1A-AS1,SCN9Ac.3158T>G (p.Leu1053Arg)
c.158T>G (p.Leu53Arg)
c.3125T>G (p.Leu1042Arg)
c.1877-94T>G
n.870-4496A>C
c.2771T>G (p.Leu924Arg)
c.2414T>G (p.Leu805Arg)
2g.166272592A>GCA349073513SCN1A-AS1,SCN9Ac.3158T>C (p.Leu1053Pro)
c.158T>C (p.Leu53Pro)
c.3125T>C (p.Leu1042Pro)
c.1877-94T>C
n.870-4496A>G
c.2771T>C (p.Leu924Pro)
c.2414T>C (p.Leu805Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272592A>TCA349073515SCN1A-AS1,SCN9Ac.3158T>A (p.Leu1053His)
c.158T>A (p.Leu53His)
c.3125T>A (p.Leu1042His)
c.1877-94T>A
n.870-4496A>T
c.2771T>A (p.Leu924His)
c.2414T>A (p.Leu805His)
2g.166272593G>ACA240874SCN1A-AS1,SCN9Ac.3157C>T (p.Leu1053Phe)
c.157C>T (p.Leu53Phe)
c.3124C>T (p.Leu1042Phe)
c.1877-95C>T
n.870-4495G>A
c.2770C>T (p.Leu924Phe)
c.2413C>T (p.Leu805Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272593G>CCA349073527SCN1A-AS1,SCN9Ac.3157C>G (p.Leu1053Val)
c.157C>G (p.Leu53Val)
c.3124C>G (p.Leu1042Val)
c.1877-95C>G
n.870-4495G>C
c.2770C>G (p.Leu924Val)
c.2413C>G (p.Leu805Val)
2g.166272593G=CA1304962771SCN1A-AS1,SCN9Ac.3157C= (p.Leu1053=)
c.157C= (p.Leu53=)
c.3124C= (p.Leu1042=)
c.1877-95C=
n.870-4495G=
c.2770C= (p.Leu924=)
c.2413C= (p.Leu805=)
2g.166272593G>TCA349073529SCN1A-AS1,SCN9Ac.3157C>A (p.Leu1053Ile)
c.157C>A (p.Leu53Ile)
c.3124C>A (p.Leu1042Ile)
c.1877-95C>A
n.870-4495G>T
c.2770C>A (p.Leu924Ile)
c.2413C>A (p.Leu805Ile)
2g.166272594G>ACA429978074SCN1A-AS1,SCN9Ac.3156C>T (p.Phe1052=)
c.156C>T (p.Phe52=)
c.3123C>T (p.Phe1041=)
c.1877-96C>T
n.870-4494G>A
c.2769C>T (p.Phe923=)
c.2412C>T (p.Phe804=)
 dbSNP COSMIC COSMIC
2g.166272594G>CCA349073532SCN1A-AS1,SCN9Ac.3156C>G (p.Phe1052Leu)
c.156C>G (p.Phe52Leu)
c.3123C>G (p.Phe1041Leu)
c.1877-96C>G
n.870-4494G>C
c.2769C>G (p.Phe923Leu)
c.2412C>G (p.Phe804Leu)
2g.166272594G=CA1304962772SCN1A-AS1,SCN9Ac.3156C= (p.Phe1052=)
c.156C= (p.Phe52=)
c.3123C= (p.Phe1041=)
c.1877-96C=
n.870-4494G=
c.2769C= (p.Phe923=)
c.2412C= (p.Phe804=)
2g.166272594G>TCA349073534SCN1A-AS1,SCN9Ac.3156C>A (p.Phe1052Leu)
c.156C>A (p.Phe52Leu)
c.3123C>A (p.Phe1041Leu)
c.1877-96C>A
n.870-4494G>T
c.2769C>A (p.Phe923Leu)
c.2412C>A (p.Phe804Leu)
2g.166272595A>CCA349073538SCN1A-AS1,SCN9Ac.3155T>G (p.Phe1052Cys)
c.155T>G (p.Phe52Cys)
c.3122T>G (p.Phe1041Cys)
c.1877-97T>G
n.870-4493A>C
c.2768T>G (p.Phe923Cys)
c.2411T>G (p.Phe804Cys)
2g.166272595A>GCA349073541SCN1A-AS1,SCN9Ac.3155T>C (p.Phe1052Ser)
c.155T>C (p.Phe52Ser)
c.3122T>C (p.Phe1041Ser)
c.1877-97T>C
n.870-4493A>G
c.2768T>C (p.Phe923Ser)
c.2411T>C (p.Phe804Ser)
2g.166272595A>TCA349073543SCN1A-AS1,SCN9Ac.3155T>A (p.Phe1052Tyr)
c.155T>A (p.Phe52Tyr)
c.3122T>A (p.Phe1041Tyr)
c.1877-97T>A
n.870-4493A>T
c.2768T>A (p.Phe923Tyr)
c.2411T>A (p.Phe804Tyr)
2g.166272596A=CA1304962773SCN1A-AS1,SCN9Ac.3154T= (p.Phe1052=)
c.154T= (p.Phe52=)
c.3121T= (p.Phe1041=)
c.1877-98T=
n.870-4492A=
c.2767T= (p.Phe923=)
c.2410T= (p.Phe804=)
2g.166272596A>CCA349073546SCN1A-AS1,SCN9Ac.3154T>G (p.Phe1052Val)
c.154T>G (p.Phe52Val)
c.3121T>G (p.Phe1041Val)
c.1877-98T>G
n.870-4492A>C
c.2767T>G (p.Phe923Val)
c.2410T>G (p.Phe804Val)
2g.166272596A>GCA349073549SCN1A-AS1,SCN9Ac.3154T>C (p.Phe1052Leu)
c.154T>C (p.Phe52Leu)
c.3121T>C (p.Phe1041Leu)
c.1877-98T>C
n.870-4492A>G
c.2767T>C (p.Phe923Leu)
c.2410T>C (p.Phe804Leu)
2g.166272596A>TCA59791429SCN1A-AS1,SCN9Ac.3154T>A (p.Phe1052Ile)
c.154T>A (p.Phe52Ile)
c.3121T>A (p.Phe1041Ile)
c.1877-98T>A
n.870-4492A>T
c.2767T>A (p.Phe923Ile)
c.2410T>A (p.Phe804Ile)
 dbSNP gnomAD v4
2g.166272597A>CCA349073553SCN1A-AS1,SCN9Ac.3153T>G (p.Asn1051Lys)
c.153T>G (p.Asn51Lys)
c.3120T>G (p.Asn1040Lys)
c.1877-99T>G
n.870-4491A>C
c.2766T>G (p.Asn922Lys)
c.2409T>G (p.Asn803Lys)
2g.166272597A>GCA429978081SCN1A-AS1,SCN9Ac.3153T>C (p.Asn1051=)
c.153T>C (p.Asn51=)
c.3120T>C (p.Asn1040=)
c.1877-99T>C
n.870-4491A>G
c.2766T>C (p.Asn922=)
c.2409T>C (p.Asn803=)
 ClinVar dbSNP gnomAD v4
2g.166272597A>TCA349073557SCN1A-AS1,SCN9Ac.3153T>A (p.Asn1051Lys)
c.153T>A (p.Asn51Lys)
c.3120T>A (p.Asn1040Lys)
c.1877-99T>A
n.870-4491A>T
c.2766T>A (p.Asn922Lys)
c.2409T>A (p.Asn803Lys)
2g.166272598T>ACA349073560SCN1A-AS1,SCN9Ac.3152A>T (p.Asn1051Ile)
c.152A>T (p.Asn51Ile)
c.3119A>T (p.Asn1040Ile)
c.1877-100A>T
n.870-4490T>A
c.2765A>T (p.Asn922Ile)
c.2408A>T (p.Asn803Ile)
2g.166272598T>CCA349073566SCN1A-AS1,SCN9Ac.3152A>G (p.Asn1051Ser)
c.152A>G (p.Asn51Ser)
c.3119A>G (p.Asn1040Ser)
c.1877-100A>G
n.870-4490T>C
c.2765A>G (p.Asn922Ser)
c.2408A>G (p.Asn803Ser)
2g.166272598T>GCA349073570SCN1A-AS1,SCN9Ac.3152A>C (p.Asn1051Thr)
c.152A>C (p.Asn51Thr)
c.3119A>C (p.Asn1040Thr)
c.1877-100A>C
n.870-4490T>G
c.2765A>C (p.Asn922Thr)
c.2408A>C (p.Asn803Thr)
2g.166272599T>ACA349073574SCN1A-AS1,SCN9Ac.3151A>T (p.Asn1051Tyr)
c.151A>T (p.Asn51Tyr)
c.3118A>T (p.Asn1040Tyr)
c.1877-101A>T
n.870-4489T>A
c.2764A>T (p.Asn922Tyr)
c.2407A>T (p.Asn803Tyr)
2g.166272599T>CCA349073576SCN1A-AS1,SCN9Ac.3151A>G (p.Asn1051Asp)
c.151A>G (p.Asn51Asp)
c.3118A>G (p.Asn1040Asp)
c.1877-101A>G
n.870-4489T>C
c.2764A>G (p.Asn922Asp)
c.2407A>G (p.Asn803Asp)
2g.166272599T>GCA349073578SCN1A-AS1,SCN9Ac.3151A>C (p.Asn1051His)
c.151A>C (p.Asn51His)
c.3118A>C (p.Asn1040His)
c.1877-101A>C
n.870-4489T>G
c.2764A>C (p.Asn922His)
c.2407A>C (p.Asn803His)
2g.166272600G>ACA429978085SCN1A-AS1,SCN9Ac.3150C>T (p.His1050=)
c.150C>T (p.His50=)
c.3117C>T (p.His1039=)
c.1877-102C>T
n.870-4488G>A
c.2763C>T (p.His921=)
c.2406C>T (p.His802=)
2g.166272600G>CCA349073580SCN1A-AS1,SCN9Ac.3150C>G (p.His1050Gln)
c.150C>G (p.His50Gln)
c.3117C>G (p.His1039Gln)
c.1877-102C>G
n.870-4488G>C
c.2763C>G (p.His921Gln)
c.2406C>G (p.His802Gln)
2g.166272600G>TCA349073581SCN1A-AS1,SCN9Ac.3150C>A (p.His1050Gln)
c.150C>A (p.His50Gln)
c.3117C>A (p.His1039Gln)
c.1877-102C>A
n.870-4488G>T
c.2763C>A (p.His921Gln)
c.2406C>A (p.His802Gln)
 dbSNP gnomAD v4
2g.166272601T>ACA349073585SCN1A-AS1,SCN9Ac.3149A>T (p.His1050Leu)
c.149A>T (p.His50Leu)
c.3116A>T (p.His1039Leu)
c.1877-103A>T
n.870-4487T>A
c.2762A>T (p.His921Leu)
c.2405A>T (p.His802Leu)
2g.166272601T>CCA349073587SCN1A-AS1,SCN9Ac.3149A>G (p.His1050Arg)
c.149A>G (p.His50Arg)
c.3116A>G (p.His1039Arg)
c.1877-103A>G
n.870-4487T>C
c.2762A>G (p.His921Arg)
c.2405A>G (p.His802Arg)
2g.166272601T>GCA349073590SCN1A-AS1,SCN9Ac.3149A>C (p.His1050Pro)
c.149A>C (p.His50Pro)
c.3116A>C (p.His1039Pro)
c.1877-103A>C
n.870-4487T>G
c.2762A>C (p.His921Pro)
c.2405A>C (p.His802Pro)
2g.166272602G>ACA59791439SCN1A-AS1,SCN9Ac.3148C>T (p.His1050Tyr)
c.148C>T (p.His50Tyr)
c.3115C>T (p.His1039Tyr)
c.1877-104C>T
n.870-4486G>A
c.2761C>T (p.His921Tyr)
c.2404C>T (p.His802Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166272602G>CCA349073600SCN1A-AS1,SCN9Ac.3148C>G (p.His1050Asp)
c.148C>G (p.His50Asp)
c.3115C>G (p.His1039Asp)
c.1877-104C>G
n.870-4486G>C
c.2761C>G (p.His921Asp)
c.2404C>G (p.His802Asp)
2g.166272602G=CA1304962774SCN1A-AS1,SCN9Ac.3148C= (p.His1050=)
c.148C= (p.His50=)
c.3115C= (p.His1039=)
c.1877-104C=
n.870-4486G=
c.2761C= (p.His921=)
c.2404C= (p.His802=)
2g.166272602G>TCA349073593SCN1A-AS1,SCN9Ac.3148C>A (p.His1050Asn)
c.148C>A (p.His50Asn)
c.3115C>A (p.His1039Asn)
c.1877-104C>A
n.870-4486G>T
c.2761C>A (p.His921Asn)
c.2404C>A (p.His802Asn)
2g.166272603A>CCA429978088SCN1A-AS1,SCN9Ac.3147T>G (p.Gly1049=)
c.147T>G (p.Gly49=)
c.3114T>G (p.Gly1038=)
c.1877-105T>G
n.870-4485A>C
c.2760T>G (p.Gly920=)
c.2403T>G (p.Gly801=)
2g.166272603A>GCA429978089SCN1A-AS1,SCN9Ac.3147T>C (p.Gly1049=)
c.147T>C (p.Gly49=)
c.3114T>C (p.Gly1038=)
c.1877-105T>C
n.870-4485A>G
c.2760T>C (p.Gly920=)
c.2403T>C (p.Gly801=)
2g.166272603A>TCA429978090SCN1A-AS1,SCN9Ac.3147T>A (p.Gly1049=)
c.147T>A (p.Gly49=)
c.3114T>A (p.Gly1038=)
c.1877-105T>A
n.870-4485A>T
c.2760T>A (p.Gly920=)
c.2403T>A (p.Gly801=)
2g.166272604C>ACA349073605SCN1A-AS1,SCN9Ac.3146G>T (p.Gly1049Val)
c.146G>T (p.Gly49Val)
c.3113G>T (p.Gly1038Val)
c.1877-106G>T
n.870-4484C>A
c.2759G>T (p.Gly920Val)
c.2402G>T (p.Gly801Val)
2g.166272604C=CA1304962775SCN1A-AS1,SCN9Ac.3146G= (p.Gly1049=)
c.146G= (p.Gly49=)
c.3113G= (p.Gly1038=)
c.1877-106G=
n.870-4484C=
c.2759G= (p.Gly920=)
c.2402G= (p.Gly801=)
2g.166272604C>GCA349073610SCN1A-AS1,SCN9Ac.3146G>C (p.Gly1049Ala)
c.146G>C (p.Gly49Ala)
c.3113G>C (p.Gly1038Ala)
c.1877-106G>C
n.870-4484C>G
c.2759G>C (p.Gly920Ala)
c.2402G>C (p.Gly801Ala)
2g.166272604C>TCA349073612SCN1A-AS1,SCN9Ac.3146G>A (p.Gly1049Asp)
c.146G>A (p.Gly49Asp)
c.3113G>A (p.Gly1038Asp)
c.1877-106G>A
n.870-4484C>T
c.2759G>A (p.Gly920Asp)
c.2402G>A (p.Gly801Asp)
 dbSNP
2g.166272605dupCA2661766687SCN1A-AS1,SCN9Ac.3146dup (p.His1050SerfsTer9)
c.146dup (p.His50SerfsTer9)
c.3113dup (p.His1039SerfsTer9)
c.1877-106dup
n.870-4483dup
c.2759dup (p.His921SerfsTer9)
c.2402dup (p.His802SerfsTer9)
 gnomAD v4
2g.166272605C>ACA349073615SCN1A-AS1,SCN9Ac.3145G>T (p.Gly1049Cys)
c.145G>T (p.Gly49Cys)
c.3112G>T (p.Gly1038Cys)
c.1877-107G>T
n.870-4483C>A
c.2758G>T (p.Gly920Cys)
c.2401G>T (p.Gly801Cys)
2g.166272605C=CA1304962776SCN1A-AS1,SCN9Ac.3145G= (p.Gly1049=)
c.145G= (p.Gly49=)
c.3112G= (p.Gly1038=)
c.1877-107G=
n.870-4483C=
c.2758G= (p.Gly920=)
c.2401G= (p.Gly801=)
2g.166272605C>GCA349073617SCN1A-AS1,SCN9Ac.3145G>C (p.Gly1049Arg)
c.145G>C (p.Gly49Arg)
c.3112G>C (p.Gly1038Arg)
c.1877-107G>C
n.870-4483C>G
c.2758G>C (p.Gly920Arg)
c.2401G>C (p.Gly801Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272605C>TCA1944132SCN1A-AS1,SCN9Ac.3145G>A (p.Gly1049Ser)
c.145G>A (p.Gly49Ser)
c.3112G>A (p.Gly1038Ser)
c.1877-107G>A
n.870-4483C>T
c.2758G>A (p.Gly920Ser)
c.2401G>A (p.Gly801Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272606T>ACA349073619SCN1A-AS1,SCN9Ac.3144A>T (p.Lys1048Asn)
c.144A>T (p.Lys48Asn)
c.3111A>T (p.Lys1037Asn)
c.1877-108A>T
n.870-4482T>A
c.2757A>T (p.Lys919Asn)
c.2400A>T (p.Lys800Asn)
2g.166272606T>CCA59791449SCN1A-AS1,SCN9Ac.3144A>G (p.Lys1048=)
c.144A>G (p.Lys48=)
c.3111A>G (p.Lys1037=)
c.1877-108A>G
n.870-4482T>C
c.2757A>G (p.Lys919=)
c.2400A>G (p.Lys800=)
 dbSNP gnomAD v4
2g.166272606T>GCA349073621SCN1A-AS1,SCN9Ac.3144A>C (p.Lys1048Asn)
c.144A>C (p.Lys48Asn)
c.3111A>C (p.Lys1037Asn)
c.1877-108A>C
n.870-4482T>G
c.2757A>C (p.Lys919Asn)
c.2400A>C (p.Lys800Asn)
2g.166272606T=CA1304962777SCN1A-AS1,SCN9Ac.3144A= (p.Lys1048=)
c.144A= (p.Lys48=)
c.3111A= (p.Lys1037=)
c.1877-108A=
n.870-4482T=
c.2757A= (p.Lys919=)
c.2400A= (p.Lys800=)
2g.166272607T>ACA349073623SCN1A-AS1,SCN9Ac.3143A>T (p.Lys1048Ile)
c.143A>T (p.Lys48Ile)
c.3110A>T (p.Lys1037Ile)
c.1877-109A>T
n.870-4481T>A
c.2756A>T (p.Lys919Ile)
c.2399A>T (p.Lys800Ile)
2g.166272607T>CCA349073624SCN1A-AS1,SCN9Ac.3143A>G (p.Lys1048Arg)
c.143A>G (p.Lys48Arg)
c.3110A>G (p.Lys1037Arg)
c.1877-109A>G
n.870-4481T>C
c.2756A>G (p.Lys919Arg)
c.2399A>G (p.Lys800Arg)
2g.166272607T>GCA349073626SCN1A-AS1,SCN9Ac.3143A>C (p.Lys1048Thr)
c.143A>C (p.Lys48Thr)
c.3110A>C (p.Lys1037Thr)
c.1877-109A>C
n.870-4481T>G
c.2756A>C (p.Lys919Thr)
c.2399A>C (p.Lys800Thr)
 ClinVar dbSNP gnomAD v4
2g.166272607T=CA1304962778SCN1A-AS1,SCN9Ac.3143A= (p.Lys1048=)
c.143A= (p.Lys48=)
c.3110A= (p.Lys1037=)
c.1877-109A=
n.870-4481T=
c.2756A= (p.Lys919=)
c.2399A= (p.Lys800=)
2g.166272608T>ACA349073627SCN1A-AS1,SCN9Ac.3142A>T (p.Lys1048Ter)
c.142A>T (p.Lys48Ter)
c.3109A>T (p.Lys1037Ter)
c.1877-110A>T
n.870-4480T>A
c.2755A>T (p.Lys919Ter)
c.2398A>T (p.Lys800Ter)
 dbSNP
2g.166272608T>CCA349073630SCN1A-AS1,SCN9Ac.3142A>G (p.Lys1048Glu)
c.142A>G (p.Lys48Glu)
c.3109A>G (p.Lys1037Glu)
c.1877-110A>G
n.870-4480T>C
c.2755A>G (p.Lys919Glu)
c.2398A>G (p.Lys800Glu)
2g.166272608T>GCA349073633SCN1A-AS1,SCN9Ac.3142A>C (p.Lys1048Gln)
c.142A>C (p.Lys48Gln)
c.3109A>C (p.Lys1037Gln)
c.1877-110A>C
n.870-4480T>G
c.2755A>C (p.Lys919Gln)
c.2398A>C (p.Lys800Gln)
2g.166272608T=CA1304962779SCN1A-AS1,SCN9Ac.3142A= (p.Lys1048=)
c.142A= (p.Lys48=)
c.3109A= (p.Lys1037=)
c.1877-110A=
n.870-4480T=
c.2755A= (p.Lys919=)
c.2398A= (p.Lys800=)
2g.166272609G>ACA59791461SCN1A-AS1,SCN9Ac.3141C>T (p.Ser1047=)
c.141C>T (p.Ser47=)
c.3108C>T (p.Ser1036=)
c.1877-111C>T
n.870-4479G>A
c.2754C>T (p.Ser918=)
c.2397C>T (p.Ser799=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272609G>CCA349073638SCN1A-AS1,SCN9Ac.3141C>G (p.Ser1047Arg)
c.141C>G (p.Ser47Arg)
c.3108C>G (p.Ser1036Arg)
c.1877-111C>G
n.870-4479G>C
c.2754C>G (p.Ser918Arg)
c.2397C>G (p.Ser799Arg)
2g.166272609G=CA1304962780SCN1A-AS1,SCN9Ac.3141C= (p.Ser1047=)
c.141C= (p.Ser47=)
c.3108C= (p.Ser1036=)
c.1877-111C=
n.870-4479G=
c.2754C= (p.Ser918=)
c.2397C= (p.Ser799=)
2g.166272609G>TCA349073641SCN1A-AS1,SCN9Ac.3141C>A (p.Ser1047Arg)
c.141C>A (p.Ser47Arg)
c.3108C>A (p.Ser1036Arg)
c.1877-111C>A
n.870-4479G>T
c.2754C>A (p.Ser918Arg)
c.2397C>A (p.Ser799Arg)
 gnomAD v4
2g.166272610C>ACA349073644SCN1A-AS1,SCN9Ac.3140G>T (p.Ser1047Ile)
c.140G>T (p.Ser47Ile)
c.3107G>T (p.Ser1036Ile)
c.1877-112G>T
n.870-4478C>A
c.2753G>T (p.Ser918Ile)
c.2396G>T (p.Ser799Ile)
2g.166272610C=CA1304962781SCN1A-AS1,SCN9Ac.3140G= (p.Ser1047=)
c.140G= (p.Ser47=)
c.3107G= (p.Ser1036=)
c.1877-112G=
n.870-4478C=
c.2753G= (p.Ser918=)
c.2396G= (p.Ser799=)
2g.166272610C>GCA349073647SCN1A-AS1,SCN9Ac.3140G>C (p.Ser1047Thr)
c.140G>C (p.Ser47Thr)
c.3107G>C (p.Ser1036Thr)
c.1877-112G>C
n.870-4478C>G
c.2753G>C (p.Ser918Thr)
c.2396G>C (p.Ser799Thr)
 gnomAD v4
2g.166272610C>TCA59791469SCN1A-AS1,SCN9Ac.3140G>A (p.Ser1047Asn)
c.140G>A (p.Ser47Asn)
c.3107G>A (p.Ser1036Asn)
c.1877-112G>A
n.870-4478C>T
c.2753G>A (p.Ser918Asn)
c.2396G>A (p.Ser799Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272611T>ACA349073652SCN1A-AS1,SCN9Ac.3139A>T (p.Ser1047Cys)
c.139A>T (p.Ser47Cys)
c.3106A>T (p.Ser1036Cys)
c.1877-113A>T
n.870-4477T>A
c.2752A>T (p.Ser918Cys)
c.2395A>T (p.Ser799Cys)
2g.166272611T>CCA349073654SCN1A-AS1,SCN9Ac.3139A>G (p.Ser1047Gly)
c.139A>G (p.Ser47Gly)
c.3106A>G (p.Ser1036Gly)
c.1877-113A>G
n.870-4477T>C
c.2752A>G (p.Ser918Gly)
c.2395A>G (p.Ser799Gly)
 dbSNP gnomAD v2
2g.166272611T>GCA349073657SCN1A-AS1,SCN9Ac.3139A>C (p.Ser1047Arg)
c.139A>C (p.Ser47Arg)
c.3106A>C (p.Ser1036Arg)
c.1877-113A>C
n.870-4477T>G
c.2752A>C (p.Ser918Arg)
c.2395A>C (p.Ser799Arg)
2g.166272611T=CA1304962782SCN1A-AS1,SCN9Ac.3139A= (p.Ser1047=)
c.139A= (p.Ser47=)
c.3106A= (p.Ser1036=)
c.1877-113A=
n.870-4477T=
c.2752A= (p.Ser918=)
c.2395A= (p.Ser799=)
2g.166272612C>ACA349073661SCN1A-AS1,SCN9Ac.3138G>T (p.Met1046Ile)
c.138G>T (p.Met46Ile)
c.3105G>T (p.Met1035Ile)
c.1877-114G>T
n.870-4476C>A
c.2751G>T (p.Met917Ile)
c.2394G>T (p.Met798Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166272612C=CA1304962783SCN1A-AS1,SCN9Ac.3138G= (p.Met1046=)
c.138G= (p.Met46=)
c.3105G= (p.Met1035=)
c.1877-114G=
n.870-4476C=
c.2751G= (p.Met917=)
c.2394G= (p.Met798=)
2g.166272612C>GCA349073663SCN1A-AS1,SCN9Ac.3138G>C (p.Met1046Ile)
c.138G>C (p.Met46Ile)
c.3105G>C (p.Met1035Ile)
c.1877-114G>C
n.870-4476C>G
c.2751G>C (p.Met917Ile)
c.2394G>C (p.Met798Ile)
2g.166272612C>TCA349073671SCN1A-AS1,SCN9Ac.3138G>A (p.Met1046Ile)
c.138G>A (p.Met46Ile)
c.3105G>A (p.Met1035Ile)
c.1877-114G>A
n.870-4476C>T
c.2751G>A (p.Met917Ile)
c.2394G>A (p.Met798Ile)
2g.166272613A>CCA349073674SCN1A-AS1,SCN9Ac.3137T>G (p.Met1046Arg)
c.137T>G (p.Met46Arg)
c.3104T>G (p.Met1035Arg)
c.1877-115T>G
n.870-4475A>C
c.2750T>G (p.Met917Arg)
c.2393T>G (p.Met798Arg)
2g.166272613A>GCA349073677SCN1A-AS1,SCN9Ac.3137T>C (p.Met1046Thr)
c.137T>C (p.Met46Thr)
c.3104T>C (p.Met1035Thr)
c.1877-115T>C
n.870-4475A>G
c.2750T>C (p.Met917Thr)
c.2393T>C (p.Met798Thr)
2g.166272613A>TCA349073679SCN1A-AS1,SCN9Ac.3137T>A (p.Met1046Lys)
c.137T>A (p.Met46Lys)
c.3104T>A (p.Met1035Lys)
c.1877-115T>A
n.870-4475A>T
c.2750T>A (p.Met917Lys)
c.2393T>A (p.Met798Lys)
2g.166272614T>ACA349073685SCN1A-AS1,SCN9Ac.3136A>T (p.Met1046Leu)
c.136A>T (p.Met46Leu)
c.3103A>T (p.Met1035Leu)
c.1877-116A>T
n.870-4474T>A
c.2749A>T (p.Met917Leu)
c.2392A>T (p.Met798Leu)
2g.166272614T>CCA349073688SCN1A-AS1,SCN9Ac.3136A>G (p.Met1046Val)
c.136A>G (p.Met46Val)
c.3103A>G (p.Met1035Val)
c.1877-116A>G
n.870-4474T>C
c.2749A>G (p.Met917Val)
c.2392A>G (p.Met798Val)
 ClinVar dbSNP gnomAD v4
2g.166272614T>GCA349073681SCN1A-AS1,SCN9Ac.3136A>C (p.Met1046Leu)
c.136A>C (p.Met46Leu)
c.3103A>C (p.Met1035Leu)
c.1877-116A>C
n.870-4474T>G
c.2749A>C (p.Met917Leu)
c.2392A>C (p.Met798Leu)
2g.166272614T=CA1304962784SCN1A-AS1,SCN9Ac.3136A= (p.Met1046=)
c.136A= (p.Met46=)
c.3103A= (p.Met1035=)
c.1877-116A=
n.870-4474T=
c.2749A= (p.Met917=)
c.2392A= (p.Met798=)
2g.166272615T>ACA349073695SCN1A-AS1,SCN9Ac.3135A>T (p.Glu1045Asp)
c.135A>T (p.Glu45Asp)
c.3102A>T (p.Glu1034Asp)
c.1877-117A>T
n.870-4473T>A
c.2748A>T (p.Glu916Asp)
c.2391A>T (p.Glu797Asp)
2g.166272615T>CCA429978110SCN1A-AS1,SCN9Ac.3135A>G (p.Glu1045=)
c.135A>G (p.Glu45=)
c.3102A>G (p.Glu1034=)
c.1877-117A>G
n.870-4473T>C
c.2748A>G (p.Glu916=)
c.2391A>G (p.Glu797=)
2g.166272615T>GCA349073692SCN1A-AS1,SCN9Ac.3135A>C (p.Glu1045Asp)
c.135A>C (p.Glu45Asp)
c.3102A>C (p.Glu1034Asp)
c.1877-117A>C
n.870-4473T>G
c.2748A>C (p.Glu916Asp)
c.2391A>C (p.Glu797Asp)
2g.166272616T>ACA349073698SCN1A-AS1,SCN9Ac.3134A>T (p.Glu1045Val)
c.134A>T (p.Glu45Val)
c.3101A>T (p.Glu1034Val)
c.1877-118A>T
n.870-4472T>A
c.2747A>T (p.Glu916Val)
c.2390A>T (p.Glu797Val)
2g.166272616T>CCA349073701SCN1A-AS1,SCN9Ac.3134A>G (p.Glu1045Gly)
c.134A>G (p.Glu45Gly)
c.3101A>G (p.Glu1034Gly)
c.1877-118A>G
n.870-4472T>C
c.2747A>G (p.Glu916Gly)
c.2390A>G (p.Glu797Gly)
2g.166272616T>GCA349073703SCN1A-AS1,SCN9Ac.3134A>C (p.Glu1045Ala)
c.134A>C (p.Glu45Ala)
c.3101A>C (p.Glu1034Ala)
c.1877-118A>C
n.870-4472T>G
c.2747A>C (p.Glu916Ala)
c.2390A>C (p.Glu797Ala)
2g.166272617C>ACA59791481SCN1A-AS1,SCN9Ac.3133G>T (p.Glu1045Ter)
c.133G>T (p.Glu45Ter)
c.3100G>T (p.Glu1034Ter)
c.1877-119G>T
n.870-4471C>A
c.2746G>T (p.Glu916Ter)
c.2389G>T (p.Glu797Ter)
 dbSNP
2g.166272617C=CA1304962785SCN1A-AS1,SCN9Ac.3133G= (p.Glu1045=)
c.133G= (p.Glu45=)
c.3100G= (p.Glu1034=)
c.1877-119G=
n.870-4471C=
c.2746G= (p.Glu916=)
c.2389G= (p.Glu797=)
2g.166272617C>GCA349073708SCN1A-AS1,SCN9Ac.3133G>C (p.Glu1045Gln)
c.133G>C (p.Glu45Gln)
c.3100G>C (p.Glu1034Gln)
c.1877-119G>C
n.870-4471C>G
c.2746G>C (p.Glu916Gln)
c.2389G>C (p.Glu797Gln)
2g.166272617C>TCA349073710SCN1A-AS1,SCN9Ac.3133G>A (p.Glu1045Lys)
c.133G>A (p.Glu45Lys)
c.3100G>A (p.Glu1034Lys)
c.1877-119G>A
n.870-4471C>T
c.2746G>A (p.Glu916Lys)
c.2389G>A (p.Glu797Lys)
2g.166272618A>CCA429978113SCN1A-AS1,SCN9Ac.3132T>G (p.Ala1044=)
c.132T>G (p.Ala44=)
c.3099T>G (p.Ala1033=)
c.1877-120T>G
n.870-4470A>C
c.2745T>G (p.Ala915=)
c.2388T>G (p.Ala796=)
2g.166272618A>GCA429978114SCN1A-AS1,SCN9Ac.3132T>C (p.Ala1044=)
c.132T>C (p.Ala44=)
c.3099T>C (p.Ala1033=)
c.1877-120T>C
n.870-4470A>G
c.2745T>C (p.Ala915=)
c.2388T>C (p.Ala796=)
2g.166272618A>TCA429978115SCN1A-AS1,SCN9Ac.3132T>A (p.Ala1044=)
c.132T>A (p.Ala44=)
c.3099T>A (p.Ala1033=)
c.1877-120T>A
n.870-4470A>T
c.2745T>A (p.Ala915=)
c.2388T>A (p.Ala796=)
2g.166272619G>ACA349073714SCN1A-AS1,SCN9Ac.3131C>T (p.Ala1044Val)
c.131C>T (p.Ala44Val)
c.3098C>T (p.Ala1033Val)
c.1877-121C>T
n.870-4469G>A
c.2744C>T (p.Ala915Val)
c.2387C>T (p.Ala796Val)
2g.166272619G>CCA349073721SCN1A-AS1,SCN9Ac.3131C>G (p.Ala1044Gly)
c.131C>G (p.Ala44Gly)
c.3098C>G (p.Ala1033Gly)
c.1877-121C>G
n.870-4469G>C
c.2744C>G (p.Ala915Gly)
c.2387C>G (p.Ala796Gly)
 ClinVar dbSNP
2g.166272619G=CA1304962786SCN1A-AS1,SCN9Ac.3131C= (p.Ala1044=)
c.131C= (p.Ala44=)
c.3098C= (p.Ala1033=)
c.1877-121C=
n.870-4469G=
c.2744C= (p.Ala915=)
c.2387C= (p.Ala796=)
2g.166272619G>TCA349073723SCN1A-AS1,SCN9Ac.3131C>A (p.Ala1044Asp)
c.131C>A (p.Ala44Asp)
c.3098C>A (p.Ala1033Asp)
c.1877-121C>A
n.870-4469G>T
c.2744C>A (p.Ala915Asp)
c.2387C>A (p.Ala796Asp)
 ClinVar
2g.166272620C>ACA349073725SCN1A-AS1,SCN9Ac.3130G>T (p.Ala1044Ser)
c.130G>T (p.Ala44Ser)
c.3097G>T (p.Ala1033Ser)
c.1877-122G>T
n.870-4468C>A
c.2743G>T (p.Ala915Ser)
c.2386G>T (p.Ala796Ser)
2g.166272620C=CA1304962787SCN1A-AS1,SCN9Ac.3130G= (p.Ala1044=)
c.130G= (p.Ala44=)
c.3097G= (p.Ala1033=)
c.1877-122G=
n.870-4468C=
c.2743G= (p.Ala915=)
c.2386G= (p.Ala796=)
2g.166272620C>GCA349073726SCN1A-AS1,SCN9Ac.3130G>C (p.Ala1044Pro)
c.130G>C (p.Ala44Pro)
c.3097G>C (p.Ala1033Pro)
c.1877-122G>C
n.870-4468C>G
c.2743G>C (p.Ala915Pro)
c.2386G>C (p.Ala796Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166272620C>TCA349073729SCN1A-AS1,SCN9Ac.3130G>A (p.Ala1044Thr)
c.130G>A (p.Ala44Thr)
c.3097G>A (p.Ala1033Thr)
c.1877-122G>A
n.870-4468C>T
c.2743G>A (p.Ala915Thr)
c.2386G>A (p.Ala796Thr)
2g.166272621A>CCA429978121SCN1A-AS1,SCN9Ac.3129T>G (p.Leu1043=)
c.129T>G (p.Leu43=)
c.3096T>G (p.Leu1032=)
c.1877-123T>G
n.870-4467A>C
c.2742T>G (p.Leu914=)
c.2385T>G (p.Leu795=)
 ClinVar
2g.166272621A>GCA429978123SCN1A-AS1,SCN9Ac.3129T>C (p.Leu1043=)
c.129T>C (p.Leu43=)
c.3096T>C (p.Leu1032=)
c.1877-123T>C
n.870-4467A>G
c.2742T>C (p.Leu914=)
c.2385T>C (p.Leu795=)
2g.166272621A>TCA429978124SCN1A-AS1,SCN9Ac.3129T>A (p.Leu1043=)
c.129T>A (p.Leu43=)
c.3096T>A (p.Leu1032=)
c.1877-123T>A
n.870-4467A>T
c.2742T>A (p.Leu914=)
c.2385T>A (p.Leu795=)
2g.166272622delCA2701016303SCN1A-AS1,SCN9Ac.3129del (p.Ala1044LeufsTer3)
c.129del (p.Ala44LeufsTer3)
c.3096del (p.Ala1033LeufsTer3)
c.1877-123del
n.870-4466del
c.2742del (p.Ala915LeufsTer3)
c.2385del (p.Ala796LeufsTer3)
 dbSNP
2g.166272622A>CCA349073744SCN1A-AS1,SCN9Ac.3128T>G (p.Leu1043Arg)
c.128T>G (p.Leu43Arg)
c.3095T>G (p.Leu1032Arg)
c.1877-124T>G
n.870-4466A>C
c.2741T>G (p.Leu914Arg)
c.2384T>G (p.Leu795Arg)
2g.166272622A>GCA349073736SCN1A-AS1,SCN9Ac.3128T>C (p.Leu1043Pro)
c.128T>C (p.Leu43Pro)
c.3095T>C (p.Leu1032Pro)
c.1877-124T>C
n.870-4466A>G
c.2741T>C (p.Leu914Pro)
c.2384T>C (p.Leu795Pro)
2g.166272622A>TCA349073732SCN1A-AS1,SCN9Ac.3128T>A (p.Leu1043His)
c.128T>A (p.Leu43His)
c.3095T>A (p.Leu1032His)
c.1877-124T>A
n.870-4466A>T
c.2741T>A (p.Leu914His)
c.2384T>A (p.Leu795His)
2g.166272623G>ACA349073746SCN1A-AS1,SCN9Ac.3127C>T (p.Leu1043Phe)
c.127C>T (p.Leu43Phe)
c.3094C>T (p.Leu1032Phe)
c.1877-125C>T
n.870-4465G>A
c.2740C>T (p.Leu914Phe)
c.2383C>T (p.Leu795Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272623G>CCA349073748SCN1A-AS1,SCN9Ac.3127C>G (p.Leu1043Val)
c.127C>G (p.Leu43Val)
c.3094C>G (p.Leu1032Val)
c.1877-125C>G
n.870-4465G>C
c.2740C>G (p.Leu914Val)
c.2383C>G (p.Leu795Val)
2g.166272623G=CA1304962788SCN1A-AS1,SCN9Ac.3127C= (p.Leu1043=)
c.127C= (p.Leu43=)
c.3094C= (p.Leu1032=)
c.1877-125C=
n.870-4465G=
c.2740C= (p.Leu914=)
c.2383C= (p.Leu795=)
2g.166272623G>TCA349073749SCN1A-AS1,SCN9Ac.3127C>A (p.Leu1043Ile)
c.127C>A (p.Leu43Ile)
c.3094C>A (p.Leu1032Ile)
c.1877-125C>A
n.870-4465G>T
c.2740C>A (p.Leu914Ile)
c.2383C>A (p.Leu795Ile)
2g.166272624T>ACA429978127SCN1A-AS1,SCN9Ac.3126A>T (p.Thr1042=)
c.126A>T (p.Thr42=)
c.3093A>T (p.Thr1031=)
c.1877-126A>T
n.870-4464T>A
c.2739A>T (p.Thr913=)
c.2382A>T (p.Thr794=)
2g.166272624T>CCA429978129SCN1A-AS1,SCN9Ac.3126A>G (p.Thr1042=)
c.126A>G (p.Thr42=)
c.3093A>G (p.Thr1031=)
c.1877-126A>G
n.870-4464T>C
c.2739A>G (p.Thr913=)
c.2382A>G (p.Thr794=)
2g.166272624T>GCA429978131SCN1A-AS1,SCN9Ac.3126A>C (p.Thr1042=)
c.126A>C (p.Thr42=)
c.3093A>C (p.Thr1031=)
c.1877-126A>C
n.870-4464T>G
c.2739A>C (p.Thr913=)
c.2382A>C (p.Thr794=)
2g.166272625G>ACA1944133SCN1A-AS1,SCN9Ac.3125C>T (p.Thr1042Ile)
c.125C>T (p.Thr42Ile)
c.3092C>T (p.Thr1031Ile)
c.1877-127C>T
n.870-4463G>A
c.2738C>T (p.Thr913Ile)
c.2381C>T (p.Thr794Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272625G>CCA349073754SCN1A-AS1,SCN9Ac.3125C>G (p.Thr1042Arg)
c.125C>G (p.Thr42Arg)
c.3092C>G (p.Thr1031Arg)
c.1877-127C>G
n.870-4463G>C
c.2738C>G (p.Thr913Arg)
c.2381C>G (p.Thr794Arg)
 dbSNP
2g.166272625G=CA1304962789SCN1A-AS1,SCN9Ac.3125C= (p.Thr1042=)
c.125C= (p.Thr42=)
c.3092C= (p.Thr1031=)
c.1877-127C=
n.870-4463G=
c.2738C= (p.Thr913=)
c.2381C= (p.Thr794=)
2g.166272625G>TCA349073757SCN1A-AS1,SCN9Ac.3125C>A (p.Thr1042Lys)
c.125C>A (p.Thr42Lys)
c.3092C>A (p.Thr1031Lys)
c.1877-127C>A
n.870-4463G>T
c.2738C>A (p.Thr913Lys)
c.2381C>A (p.Thr794Lys)
2g.166272626T>ACA349073762SCN1A-AS1,SCN9Ac.3124A>T (p.Thr1042Ser)
c.124A>T (p.Thr42Ser)
c.3091A>T (p.Thr1031Ser)
c.1877-128A>T
n.870-4462T>A
c.2737A>T (p.Thr913Ser)
c.2380A>T (p.Thr794Ser)
2g.166272626T>CCA349073763SCN1A-AS1,SCN9Ac.3124A>G (p.Thr1042Ala)
c.124A>G (p.Thr42Ala)
c.3091A>G (p.Thr1031Ala)
c.1877-128A>G
n.870-4462T>C
c.2737A>G (p.Thr913Ala)
c.2380A>G (p.Thr794Ala)
2g.166272626T>GCA349073766SCN1A-AS1,SCN9Ac.3124A>C (p.Thr1042Pro)
c.124A>C (p.Thr42Pro)
c.3091A>C (p.Thr1031Pro)
c.1877-128A>C
n.870-4462T>G
c.2737A>C (p.Thr913Pro)
c.2380A>C (p.Thr794Pro)
2g.166272627A=CA1304962790SCN1A-AS1,SCN9Ac.3123T= (p.His1041=)
c.123T= (p.His41=)
c.3090T= (p.His1030=)
c.1877-129T=
n.870-4461A=
c.2736T= (p.His912=)
c.2379T= (p.His793=)
2g.166272627A>CCA349073768SCN1A-AS1,SCN9Ac.3123T>G (p.His1041Gln)
c.123T>G (p.His41Gln)
c.3090T>G (p.His1030Gln)
c.1877-129T>G
n.870-4461A>C
c.2736T>G (p.His912Gln)
c.2379T>G (p.His793Gln)
2g.166272627A>GCA429978133SCN1A-AS1,SCN9Ac.3123T>C (p.His1041=)
c.123T>C (p.His41=)
c.3090T>C (p.His1030=)
c.1877-129T>C
n.870-4461A>G
c.2736T>C (p.His912=)
c.2379T>C (p.His793=)
 dbSNP
2g.166272627A>TCA349073771SCN1A-AS1,SCN9Ac.3123T>A (p.His1041Gln)
c.123T>A (p.His41Gln)
c.3090T>A (p.His1030Gln)
c.1877-129T>A
n.870-4461A>T
c.2736T>A (p.His912Gln)
c.2379T>A (p.His793Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272628T>ACA349073774SCN1A-AS1,SCN9Ac.3122A>T (p.His1041Leu)
c.122A>T (p.His41Leu)
c.3089A>T (p.His1030Leu)
c.1877-130A>T
n.870-4460T>A
c.2735A>T (p.His912Leu)
c.2378A>T (p.His793Leu)
 ClinVar
2g.166272628T>CCA349073775SCN1A-AS1,SCN9Ac.3122A>G (p.His1041Arg)
c.122A>G (p.His41Arg)
c.3089A>G (p.His1030Arg)
c.1877-130A>G
n.870-4460T>C
c.2735A>G (p.His912Arg)
c.2378A>G (p.His793Arg)
 gnomAD v4
2g.166272628T>GCA349073776SCN1A-AS1,SCN9Ac.3122A>C (p.His1041Pro)
c.122A>C (p.His41Pro)
c.3089A>C (p.His1030Pro)
c.1877-130A>C
n.870-4460T>G
c.2735A>C (p.His912Pro)
c.2378A>C (p.His793Pro)
2g.166272629G>ACA349073777SCN1A-AS1,SCN9Ac.3121C>T (p.His1041Tyr)
c.121C>T (p.His41Tyr)
c.3088C>T (p.His1030Tyr)
c.1877-131C>T
n.870-4459G>A
c.2734C>T (p.His912Tyr)
c.2377C>T (p.His793Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166272629G>CCA59791487SCN1A-AS1,SCN9Ac.3121C>G (p.His1041Asp)
c.121C>G (p.His41Asp)
c.3088C>G (p.His1030Asp)
c.1877-131C>G
n.870-4459G>C
c.2734C>G (p.His912Asp)
c.2377C>G (p.His793Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166272629G=CA1304962791SCN1A-AS1,SCN9Ac.3121C= (p.His1041=)
c.121C= (p.His41=)
c.3088C= (p.His1030=)
c.1877-131C=
n.870-4459G=
c.2734C= (p.His912=)
c.2377C= (p.His793=)
2g.166272629G>TCA59791493SCN1A-AS1,SCN9Ac.3121C>A (p.His1041Asn)
c.121C>A (p.His41Asn)
c.3088C>A (p.His1030Asn)
c.1877-131C>A
n.870-4459G>T
c.2734C>A (p.His912Asn)
c.2377C>A (p.His793Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166272630G>ACA429978137SCN1A-AS1,SCN9Ac.3120C>T (p.Asn1040=)
c.120C>T (p.Asn40=)
c.3087C>T (p.Asn1029=)
c.1877-132C>T
n.870-4458G>A
c.2733C>T (p.Asn911=)
c.2376C>T (p.Asn792=)
 gnomAD v4
2g.166272630G>CCA1944134SCN1A-AS1,SCN9Ac.3120C>G (p.Asn1040Lys)
c.120C>G (p.Asn40Lys)
c.3087C>G (p.Asn1029Lys)
c.1877-132C>G
n.870-4458G>C
c.2733C>G (p.Asn911Lys)
c.2376C>G (p.Asn792Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272630G=CA1304962792SCN1A-AS1,SCN9Ac.3120C= (p.Asn1040=)
c.120C= (p.Asn40=)
c.3087C= (p.Asn1029=)
c.1877-132C=
n.870-4458G=
c.2733C= (p.Asn911=)
c.2376C= (p.Asn792=)
2g.166272630G>TCA349073783SCN1A-AS1,SCN9Ac.3120C>A (p.Asn1040Lys)
c.120C>A (p.Asn40Lys)
c.3087C>A (p.Asn1029Lys)
c.1877-132C>A
n.870-4458G>T
c.2733C>A (p.Asn911Lys)
c.2376C>A (p.Asn792Lys)
2g.166272631T>ACA349073787SCN1A-AS1,SCN9Ac.3119A>T (p.Asn1040Ile)
c.119A>T (p.Asn40Ile)
c.3086A>T (p.Asn1029Ile)
c.1877-133A>T
n.870-4457T>A
c.2732A>T (p.Asn911Ile)
c.2375A>T (p.Asn792Ile)
2g.166272631T>CCA349073788SCN1A-AS1,SCN9Ac.3119A>G (p.Asn1040Ser)
c.119A>G (p.Asn40Ser)
c.3086A>G (p.Asn1029Ser)
c.1877-133A>G
n.870-4457T>C
c.2732A>G (p.Asn911Ser)
c.2375A>G (p.Asn792Ser)
2g.166272631T>GCA349073791SCN1A-AS1,SCN9Ac.3119A>C (p.Asn1040Thr)
c.119A>C (p.Asn40Thr)
c.3086A>C (p.Asn1029Thr)
c.1877-133A>C
n.870-4457T>G
c.2732A>C (p.Asn911Thr)
c.2375A>C (p.Asn792Thr)
2g.166272632T>ACA349073793SCN1A-AS1,SCN9Ac.3118A>T (p.Asn1040Tyr)
c.118A>T (p.Asn40Tyr)
c.3085A>T (p.Asn1029Tyr)
c.1877-134A>T
n.870-4456T>A
c.2731A>T (p.Asn911Tyr)
c.2374A>T (p.Asn792Tyr)
2g.166272632T>CCA349073795SCN1A-AS1,SCN9Ac.3118A>G (p.Asn1040Asp)
c.118A>G (p.Asn40Asp)
c.3085A>G (p.Asn1029Asp)
c.1877-134A>G
n.870-4456T>C
c.2731A>G (p.Asn911Asp)
c.2374A>G (p.Asn792Asp)
2g.166272632T>GCA349073797SCN1A-AS1,SCN9Ac.3118A>C (p.Asn1040His)
c.118A>C (p.Asn40His)
c.3085A>C (p.Asn1029His)
c.1877-134A>C
n.870-4456T>G
c.2731A>C (p.Asn911His)
c.2374A>C (p.Asn792His)
2g.166272633A>CCA429978138SCN1A-AS1,SCN9Ac.3117T>G (p.Ser1039=)
c.117T>G (p.Ser39=)
c.3084T>G (p.Ser1028=)
c.1877-135T>G
n.870-4455A>C
c.2730T>G (p.Ser910=)
c.2373T>G (p.Ser791=)
2g.166272633A>GCA429978141SCN1A-AS1,SCN9Ac.3117T>C (p.Ser1039=)
c.117T>C (p.Ser39=)
c.3084T>C (p.Ser1028=)
c.1877-135T>C
n.870-4455A>G
c.2730T>C (p.Ser910=)
c.2373T>C (p.Ser791=)
2g.166272633A>TCA429978144SCN1A-AS1,SCN9Ac.3117T>A (p.Ser1039=)
c.117T>A (p.Ser39=)
c.3084T>A (p.Ser1028=)
c.1877-135T>A
n.870-4455A>T
c.2730T>A (p.Ser910=)
c.2373T>A (p.Ser791=)

Number of alleles fetched