Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166272747A=CA1304962850SCN1A-AS1,SCN9Ac.3003T= (p.Tyr1001=)
c.3T= (p.Tyr1=)
c.2970T= (p.Tyr990=)
c.1877-249T=
n.870-4341A=
c.2616T= (p.Tyr872=)
c.2259T= (p.Tyr753=)
2g.166272747A>CCA349074510SCN1A-AS1,SCN9Ac.3003T>G (p.Tyr1001Ter)
c.3T>G (p.Tyr1Ter)
c.2970T>G (p.Tyr990Ter)
c.1877-249T>G
n.870-4341A>C
c.2616T>G (p.Tyr872Ter)
c.2259T>G (p.Tyr753Ter)
2g.166272747A>GCA10586790SCN1A-AS1,SCN9Ac.3003T>C (p.Tyr1001=)
c.3T>C (p.Tyr1=)
c.2970T>C (p.Tyr990=)
c.1877-249T>C
n.870-4341A>G
c.2616T>C (p.Tyr872=)
c.2259T>C (p.Tyr753=)
 ClinVar dbSNP
2g.166272747A>TCA349074512SCN1A-AS1,SCN9Ac.3003T>A (p.Tyr1001Ter)
c.3T>A (p.Tyr1Ter)
c.2970T>A (p.Tyr990Ter)
c.1877-249T>A
n.870-4341A>T
c.2616T>A (p.Tyr872Ter)
c.2259T>A (p.Tyr753Ter)
2g.166272748T>ACA349074515SCN1A-AS1,SCN9Ac.3002A>T (p.Tyr1001Phe)
c.2A>T (p.Tyr1Phe)
c.2969A>T (p.Tyr990Phe)
c.1877-250A>T
n.870-4340T>A
c.2615A>T (p.Tyr872Phe)
c.2258A>T (p.Tyr753Phe)
 COSMIC COSMIC
2g.166272748T>CCA231497SCN1A-AS1,SCN9Ac.3002A>G (p.Tyr1001Cys)
c.2A>G (p.Tyr1Cys)
c.2969A>G (p.Tyr990Cys)
c.1877-250A>G
n.870-4340T>C
c.2615A>G (p.Tyr872Cys)
c.2258A>G (p.Tyr753Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272748T>GCA349074517SCN1A-AS1,SCN9Ac.3002A>C (p.Tyr1001Ser)
c.2A>C (p.Tyr1Ser)
c.2969A>C (p.Tyr990Ser)
c.1877-250A>C
n.870-4340T>G
c.2615A>C (p.Tyr872Ser)
c.2258A>C (p.Tyr753Ser)
2g.166272748T=CA1304962851SCN1A-AS1,SCN9Ac.3002A= (p.Tyr1001=)
c.2A= (p.Tyr1=)
c.2969A= (p.Tyr990=)
c.1877-250A=
n.870-4340T=
c.2615A= (p.Tyr872=)
c.2258A= (p.Tyr753=)
2g.166272749A>CCA349074518SCN1A-AS1,SCN9Ac.3001T>G (p.Tyr1001Asp)
c.1T>G (p.Tyr1Asp)
c.2968T>G (p.Tyr990Asp)
c.1877-251T>G
n.870-4339A>C
c.2614T>G (p.Tyr872Asp)
c.2257T>G (p.Tyr753Asp)
2g.166272749A>GCA349074519SCN1A-AS1,SCN9Ac.3001T>C (p.Tyr1001His)
c.1T>C (p.Tyr1His)
c.2968T>C (p.Tyr990His)
c.1877-251T>C
n.870-4339A>G
c.2614T>C (p.Tyr872His)
c.2257T>C (p.Tyr753His)
2g.166272749A>TCA349074520SCN1A-AS1,SCN9Ac.3001T>A (p.Tyr1001Asn)
c.1T>A (p.Tyr1Asn)
c.2968T>A (p.Tyr990Asn)
c.1877-251T>A
n.870-4339A>T
c.2614T>A (p.Tyr872Asn)
c.2257T>A (p.Tyr753Asn)
2g.166272750A>CCA349074521SCN1A-AS1,SCN9Ac.3000T>G (p.Asn1000Lys)
c.2967T>G (p.Asn989Lys)
c.1877-252T>G
n.870-4338A>C
c.2613T>G (p.Asn871Lys)
c.2256T>G (p.Asn752Lys)
2g.166272750A>GCA429978037SCN1A-AS1,SCN9Ac.3000T>C (p.Asn1000=)
c.2967T>C (p.Asn989=)
c.1877-252T>C
n.870-4338A>G
c.2613T>C (p.Asn871=)
c.2256T>C (p.Asn752=)
2g.166272750A>TCA349074522SCN1A-AS1,SCN9Ac.3000T>A (p.Asn1000Lys)
c.2967T>A (p.Asn989Lys)
c.1877-252T>A
n.870-4338A>T
c.2613T>A (p.Asn871Lys)
c.2256T>A (p.Asn752Lys)
2g.166272751T>ACA349074523SCN1A-AS1,SCN9Ac.2999A>T (p.Asn1000Ile)
c.2966A>T (p.Asn989Ile)
c.1877-253A>T
n.870-4337T>A
c.2612A>T (p.Asn871Ile)
c.2255A>T (p.Asn752Ile)
2g.166272751T>CCA59791793SCN1A-AS1,SCN9Ac.2999A>G (p.Asn1000Ser)
c.2966A>G (p.Asn989Ser)
c.1877-253A>G
n.870-4337T>C
c.2612A>G (p.Asn871Ser)
c.2255A>G (p.Asn752Ser)
 dbSNP
2g.166272751T>GCA349074524SCN1A-AS1,SCN9Ac.2999A>C (p.Asn1000Thr)
c.2966A>C (p.Asn989Thr)
c.1877-253A>C
n.870-4337T>G
c.2612A>C (p.Asn871Thr)
c.2255A>C (p.Asn752Thr)
2g.166272751T=CA1304962852SCN1A-AS1,SCN9Ac.2999A= (p.Asn1000=)
c.2966A= (p.Asn989=)
c.1877-253A=
n.870-4337T=
c.2612A= (p.Asn871=)
c.2255A= (p.Asn752=)
2g.166272752T>ACA349074529SCN1A-AS1,SCN9Ac.2998A>T (p.Asn1000Tyr)
c.2965A>T (p.Asn989Tyr)
c.1877-254A>T
n.870-4336T>A
c.2611A>T (p.Asn871Tyr)
c.2254A>T (p.Asn752Tyr)
2g.166272752T>CCA349074526SCN1A-AS1,SCN9Ac.2998A>G (p.Asn1000Asp)
c.2965A>G (p.Asn989Asp)
c.1877-254A>G
n.870-4336T>C
c.2611A>G (p.Asn871Asp)
c.2254A>G (p.Asn752Asp)
2g.166272752T>GCA59791794SCN1A-AS1,SCN9Ac.2998A>C (p.Asn1000His)
c.2965A>C (p.Asn989His)
c.1877-254A>C
n.870-4336T>G
c.2611A>C (p.Asn871His)
c.2254A>C (p.Asn752His)
 dbSNP
2g.166272752T=CA1304962853SCN1A-AS1,SCN9Ac.2998A= (p.Asn1000=)
c.2965A= (p.Asn989=)
c.1877-254A=
n.870-4336T=
c.2611A= (p.Asn871=)
c.2254A= (p.Asn752=)
2g.166272753T>ACA429978039SCN1A-AS1,SCN9Ac.2997A>T (p.Ile999=)
c.2964A>T (p.Ile988=)
c.1877-255A>T
n.870-4335T>A
c.2610A>T (p.Ile870=)
c.2253A>T (p.Ile751=)
2g.166272753T>CCA349074531SCN1A-AS1,SCN9Ac.2997A>G (p.Ile999Met)
c.2964A>G (p.Ile988Met)
c.1877-255A>G
n.870-4335T>C
c.2610A>G (p.Ile870Met)
c.2253A>G (p.Ile751Met)
2g.166272753T>GCA429978040SCN1A-AS1,SCN9Ac.2997A>C (p.Ile999=)
c.2964A>C (p.Ile988=)
c.1877-255A>C
n.870-4335T>G
c.2610A>C (p.Ile870=)
c.2253A>C (p.Ile751=)
2g.166272754A>CCA349074534SCN1A-AS1,SCN9Ac.2996T>G (p.Ile999Arg)
c.2963T>G (p.Ile988Arg)
c.1877-256T>G
n.870-4334A>C
c.2609T>G (p.Ile870Arg)
c.2252T>G (p.Ile751Arg)
2g.166272754A>GCA349074536SCN1A-AS1,SCN9Ac.2996T>C (p.Ile999Thr)
c.2963T>C (p.Ile988Thr)
c.1877-256T>C
n.870-4334A>G
c.2609T>C (p.Ile870Thr)
c.2252T>C (p.Ile751Thr)
 ClinVar dbSNP
2g.166272754A>TCA349074537SCN1A-AS1,SCN9Ac.2996T>A (p.Ile999Lys)
c.2963T>A (p.Ile988Lys)
c.1877-256T>A
n.870-4334A>T
c.2609T>A (p.Ile870Lys)
c.2252T>A (p.Ile751Lys)
2g.166272755T>ACA349074540SCN1A-AS1,SCN9Ac.2995A>T (p.Ile999Leu)
c.2962A>T (p.Ile988Leu)
c.1877-257A>T
n.870-4333T>A
c.2608A>T (p.Ile870Leu)
c.2251A>T (p.Ile751Leu)
2g.166272755T>CCA349074542SCN1A-AS1,SCN9Ac.2995A>G (p.Ile999Val)
c.2962A>G (p.Ile988Val)
c.1877-257A>G
n.870-4333T>C
c.2608A>G (p.Ile870Val)
c.2251A>G (p.Ile751Val)
 ClinVar dbSNP
2g.166272755T>GCA349074543SCN1A-AS1,SCN9Ac.2995A>C (p.Ile999Leu)
c.2962A>C (p.Ile988Leu)
c.1877-257A>C
n.870-4333T>G
c.2608A>C (p.Ile870Leu)
c.2251A>C (p.Ile751Leu)
2g.166272756T>ACA429978043SCN1A-AS1,SCN9Ac.2994A>T (p.Gly998=)
c.2961A>T (p.Gly987=)
c.1877-258A>T
n.870-4332T>A
c.2607A>T (p.Gly869=)
c.2250A>T (p.Gly750=)
2g.166272756T>CCA429978044SCN1A-AS1,SCN9Ac.2994A>G (p.Gly998=)
c.2961A>G (p.Gly987=)
c.1877-258A>G
n.870-4332T>C
c.2607A>G (p.Gly869=)
c.2250A>G (p.Gly750=)
2g.166272756T>GCA429978046SCN1A-AS1,SCN9Ac.2994A>C (p.Gly998=)
c.2961A>C (p.Gly987=)
c.1877-258A>C
n.870-4332T>G
c.2607A>C (p.Gly869=)
c.2250A>C (p.Gly750=)
 ClinVar dbSNP
2g.166272756T=CA1304962854SCN1A-AS1,SCN9Ac.2994A= (p.Gly998=)
c.2961A= (p.Gly987=)
c.1877-258A=
n.870-4332T=
c.2607A= (p.Gly869=)
c.2250A= (p.Gly750=)
2g.166272756_166272757delinsTCCA1304962855SCN1A-AS1,SCN9Ac.2993_2994delinsGA (p.Gly998=)
c.2960_2961delinsGA (p.Gly987=)
c.1877-259_1877-258delinsGA
n.870-4332_870-4331delinsTC
c.2606_2607delinsGA (p.Gly869=)
c.2249_2250delinsGA (p.Gly750=)
2g.166272757C>ACA349074546SCN1A-AS1,SCN9Ac.2993G>T (p.Gly998Val)
c.2960G>T (p.Gly987Val)
c.1877-259G>T
n.870-4331C>A
c.2606G>T (p.Gly869Val)
c.2249G>T (p.Gly750Val)
2g.166272757C>GCA349074548SCN1A-AS1,SCN9Ac.2993G>C (p.Gly998Ala)
c.2960G>C (p.Gly987Ala)
c.1877-259G>C
n.870-4331C>G
c.2606G>C (p.Gly869Ala)
c.2249G>C (p.Gly750Ala)
2g.166272757C>TCA349074549SCN1A-AS1,SCN9Ac.2993G>A (p.Gly998Glu)
c.2960G>A (p.Gly987Glu)
c.1877-259G>A
n.870-4331C>T
c.2606G>A (p.Gly869Glu)
c.2249G>A (p.Gly750Glu)
 COSMIC COSMIC
2g.166272759delCA1304962856SCN1A-AS1,SCN9Ac.2993del (p.Gly998GlufsTer2)
c.2960del (p.Gly987GlufsTer2)
c.1877-259del
n.870-4329del
c.2606del (p.Gly869GlufsTer2)
c.2249del (p.Gly750GlufsTer2)
 dbSNP gnomAD v4
2g.166272758C>ACA349074553SCN1A-AS1,SCN9Ac.2992G>T (p.Gly998Ter)
c.2959G>T (p.Gly987Ter)
c.1877-260G>T
n.870-4330C>A
c.2605G>T (p.Gly869Ter)
c.2248G>T (p.Gly750Ter)
 dbSNP gnomAD v4
2g.166272758C=CA1304962857SCN1A-AS1,SCN9Ac.2992G= (p.Gly998=)
c.2959G= (p.Gly987=)
c.1877-260G=
n.870-4330C=
c.2605G= (p.Gly869=)
c.2248G= (p.Gly750=)
2g.166272758C>GCA349074554SCN1A-AS1,SCN9Ac.2992G>C (p.Gly998Arg)
c.2959G>C (p.Gly987Arg)
c.1877-260G>C
n.870-4330C>G
c.2605G>C (p.Gly869Arg)
c.2248G>C (p.Gly750Arg)
2g.166272758C>TCA349074551SCN1A-AS1,SCN9Ac.2992G>A (p.Gly998Arg)
c.2959G>A (p.Gly987Arg)
c.1877-260G>A
n.870-4330C>T
c.2605G>A (p.Gly869Arg)
c.2248G>A (p.Gly750Arg)
 gnomAD v4 COSMIC COSMIC
2g.166272759C>ACA1944158SCN1A-AS1,SCN9Ac.2991G>T (p.Lys997Asn)
c.2958G>T (p.Lys986Asn)
c.1877-261G>T
n.870-4329C>A
c.2604G>T (p.Lys868Asn)
c.2247G>T (p.Lys749Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272759C=CA1304962858SCN1A-AS1,SCN9Ac.2991G= (p.Lys997=)
c.2958G= (p.Lys986=)
c.1877-261G=
n.870-4329C=
c.2604G= (p.Lys868=)
c.2247G= (p.Lys749=)
2g.166272759C>GCA349074557SCN1A-AS1,SCN9Ac.2991G>C (p.Lys997Asn)
c.2958G>C (p.Lys986Asn)
c.1877-261G>C
n.870-4329C>G
c.2604G>C (p.Lys868Asn)
c.2247G>C (p.Lys749Asn)
 ClinVar
2g.166272759C>TCA429978049SCN1A-AS1,SCN9Ac.2991G>A (p.Lys997=)
c.2958G>A (p.Lys986=)
c.1877-261G>A
n.870-4329C>T
c.2604G>A (p.Lys868=)
c.2247G>A (p.Lys749=)
 gnomAD v4
2g.166272760T>ACA349074559SCN1A-AS1,SCN9Ac.2990A>T (p.Lys997Met)
c.2957A>T (p.Lys986Met)
c.1877-262A>T
n.870-4328T>A
c.2603A>T (p.Lys868Met)
c.2246A>T (p.Lys749Met)
2g.166272760T>CCA349074560SCN1A-AS1,SCN9Ac.2990A>G (p.Lys997Arg)
c.2957A>G (p.Lys986Arg)
c.1877-262A>G
n.870-4328T>C
c.2603A>G (p.Lys868Arg)
c.2246A>G (p.Lys749Arg)
2g.166272760T>GCA349074561SCN1A-AS1,SCN9Ac.2990A>C (p.Lys997Thr)
c.2957A>C (p.Lys986Thr)
c.1877-262A>C
n.870-4328T>G
c.2603A>C (p.Lys868Thr)
c.2246A>C (p.Lys749Thr)
2g.166272764delCA2661766691SCN1A-AS1,SCN9Ac.2990del (p.Lys997ArgfsTer3)
c.2957del (p.Lys986ArgfsTer3)
c.1877-262del
n.870-4324del
c.2603del (p.Lys868ArgfsTer3)
c.2246del (p.Lys749ArgfsTer3)
 gnomAD v4
2g.166272761T>ACA349074563SCN1A-AS1,SCN9Ac.2989A>T (p.Lys997Ter)
c.2956A>T (p.Lys986Ter)
c.1877-263A>T
n.870-4327T>A
c.2602A>T (p.Lys868Ter)
c.2245A>T (p.Lys749Ter)
 dbSNP
2g.166272761T>CCA349074564SCN1A-AS1,SCN9Ac.2989A>G (p.Lys997Glu)
c.2956A>G (p.Lys986Glu)
c.1877-263A>G
n.870-4327T>C
c.2602A>G (p.Lys868Glu)
c.2245A>G (p.Lys749Glu)
2g.166272761T>GCA349074566SCN1A-AS1,SCN9Ac.2989A>C (p.Lys997Gln)
c.2956A>C (p.Lys986Gln)
c.1877-263A>C
n.870-4327T>G
c.2602A>C (p.Lys868Gln)
c.2245A>C (p.Lys749Gln)
2g.166272761T=CA1304962859SCN1A-AS1,SCN9Ac.2989A= (p.Lys997=)
c.2956A= (p.Lys986=)
c.1877-263A=
n.870-4327T=
c.2602A= (p.Lys868=)
c.2245A= (p.Lys749=)
2g.166272762T>ACA349074570SCN1A-AS1,SCN9Ac.2988A>T (p.Lys996Asn)
c.2955A>T (p.Lys985Asn)
c.1877-264A>T
n.870-4326T>A
c.2601A>T (p.Lys867Asn)
c.2244A>T (p.Lys748Asn)
2g.166272762T>CCA429978050SCN1A-AS1,SCN9Ac.2988A>G (p.Lys996=)
c.2955A>G (p.Lys985=)
c.1877-264A>G
n.870-4326T>C
c.2601A>G (p.Lys867=)
c.2244A>G (p.Lys748=)
2g.166272762T>GCA349074572SCN1A-AS1,SCN9Ac.2988A>C (p.Lys996Asn)
c.2955A>C (p.Lys985Asn)
c.1877-264A>C
n.870-4326T>G
c.2601A>C (p.Lys867Asn)
c.2244A>C (p.Lys748Asn)
2g.166272763T>ACA349074574SCN1A-AS1,SCN9Ac.2987A>T (p.Lys996Ile)
c.2954A>T (p.Lys985Ile)
c.1877-265A>T
n.870-4325T>A
c.2600A>T (p.Lys867Ile)
c.2243A>T (p.Lys748Ile)
2g.166272763T>CCA349074576SCN1A-AS1,SCN9Ac.2987A>G (p.Lys996Arg)
c.2954A>G (p.Lys985Arg)
c.1877-265A>G
n.870-4325T>C
c.2600A>G (p.Lys867Arg)
c.2243A>G (p.Lys748Arg)
2g.166272763T>GCA349074578SCN1A-AS1,SCN9Ac.2987A>C (p.Lys996Thr)
c.2954A>C (p.Lys985Thr)
c.1877-265A>C
n.870-4325T>G
c.2600A>C (p.Lys867Thr)
c.2243A>C (p.Lys748Thr)
2g.166272763T=CA1304962860SCN1A-AS1,SCN9Ac.2987A= (p.Lys996=)
c.2954A= (p.Lys985=)
c.1877-265A=
n.870-4325T=
c.2600A= (p.Lys867=)
c.2243A= (p.Lys748=)
2g.166272763_166272764insCCA59791796SCN1A-AS1,SCN9Ac.2986_2987insG (p.Lys996ArgfsTer13)
c.2953_2954insG (p.Lys985ArgfsTer13)
c.1877-266_1877-265insG
n.870-4325_870-4324insC
c.2599_2600insG (p.Lys867ArgfsTer13)
c.2242_2243insG (p.Lys748ArgfsTer13)
 dbSNP
2g.166272764T>ACA349074582SCN1A-AS1,SCN9Ac.2986A>T (p.Lys996Ter)
c.2953A>T (p.Lys985Ter)
c.1877-266A>T
n.870-4324T>A
c.2599A>T (p.Lys867Ter)
c.2242A>T (p.Lys748Ter)
 dbSNP
2g.166272764T>CCA349074584SCN1A-AS1,SCN9Ac.2986A>G (p.Lys996Glu)
c.2953A>G (p.Lys985Glu)
c.1877-266A>G
n.870-4324T>C
c.2599A>G (p.Lys867Glu)
c.2242A>G (p.Lys748Glu)
2g.166272764T>GCA349074581SCN1A-AS1,SCN9Ac.2986A>C (p.Lys996Gln)
c.2953A>C (p.Lys985Gln)
c.1877-266A>C
n.870-4324T>G
c.2599A>C (p.Lys867Gln)
c.2242A>C (p.Lys748Gln)
2g.166272764T=CA1304962861SCN1A-AS1,SCN9Ac.2986A= (p.Lys996=)
c.2953A= (p.Lys985=)
c.1877-266A=
n.870-4324T=
c.2599A= (p.Lys867=)
c.2242A= (p.Lys748=)
2g.166272765A>CCA349074588SCN1A-AS1,SCN9Ac.2985T>G (p.Ile995Met)
c.2952T>G (p.Ile984Met)
c.1877-267T>G
n.870-4323A>C
c.2598T>G (p.Ile866Met)
c.2241T>G (p.Ile747Met)
2g.166272765A>GCA429978052SCN1A-AS1,SCN9Ac.2985T>C (p.Ile995=)
c.2952T>C (p.Ile984=)
c.1877-267T>C
n.870-4323A>G
c.2598T>C (p.Ile866=)
c.2241T>C (p.Ile747=)
2g.166272765A>TCA429978053SCN1A-AS1,SCN9Ac.2985T>A (p.Ile995=)
c.2952T>A (p.Ile984=)
c.1877-267T>A
n.870-4323A>T
c.2598T>A (p.Ile866=)
c.2241T>A (p.Ile747=)
2g.166272765_166272766delinsAACA1304962862SCN1A-AS1,SCN9Ac.2984_2985delinsTT (p.Ile995=)
c.2951_2952delinsTT (p.Ile984=)
c.1877-268_1877-267delinsTT
n.870-4323_870-4322delinsAA
c.2597_2598delinsTT (p.Ile866=)
c.2240_2241delinsTT (p.Ile747=)
2g.166272765_166272766insGCA2499215220SCN1A-AS1,SCN9Ac.2984_2985insC (p.Lys996Ter)
c.2951_2952insC (p.Lys985Ter)
c.1877-268_1877-267insC
n.870-4323_870-4322insG
c.2597_2598insC (p.Lys867Ter)
c.2240_2241insC (p.Lys748Ter)
 ClinVar dbSNP
2g.166272766A>CCA349074590SCN1A-AS1,SCN9Ac.2984T>G (p.Ile995Ser)
c.2951T>G (p.Ile984Ser)
c.1877-268T>G
n.870-4322A>C
c.2597T>G (p.Ile866Ser)
c.2240T>G (p.Ile747Ser)
2g.166272766A>GCA349074592SCN1A-AS1,SCN9Ac.2984T>C (p.Ile995Thr)
c.2951T>C (p.Ile984Thr)
c.1877-268T>C
n.870-4322A>G
c.2597T>C (p.Ile866Thr)
c.2240T>C (p.Ile747Thr)
2g.166272766A>TCA349074594SCN1A-AS1,SCN9Ac.2984T>A (p.Ile995Asn)
c.2951T>A (p.Ile984Asn)
c.1877-268T>A
n.870-4322A>T
c.2597T>A (p.Ile866Asn)
c.2240T>A (p.Ile747Asn)
2g.166272766delinsGGCA915942953SCN1A-AS1,SCN9Ac.2984delinsCC (p.Ile995ThrfsTer2)
c.2951delinsCC (p.Ile984ThrfsTer2)
c.1877-268delinsCC
n.870-4322delinsGG
c.2597delinsCC (p.Ile866ThrfsTer2)
c.2240delinsCC (p.Ile747ThrfsTer2)
 ClinVar dbSNP
2g.166272767T>ACA349074597SCN1A-AS1,SCN9Ac.2983A>T (p.Ile995Phe)
c.2950A>T (p.Ile984Phe)
c.1877-269A>T
n.870-4321T>A
c.2596A>T (p.Ile866Phe)
c.2239A>T (p.Ile747Phe)
2g.166272767T>CCA349074598SCN1A-AS1,SCN9Ac.2983A>G (p.Ile995Val)
c.2950A>G (p.Ile984Val)
c.1877-269A>G
n.870-4321T>C
c.2596A>G (p.Ile866Val)
c.2239A>G (p.Ile747Val)
2g.166272767T>GCA349074600SCN1A-AS1,SCN9Ac.2983A>C (p.Ile995Leu)
c.2950A>C (p.Ile984Leu)
c.1877-269A>C
n.870-4321T>G
c.2596A>C (p.Ile866Leu)
c.2239A>C (p.Ile747Leu)
2g.166272768T>ACA349074602SCN1A-AS1,SCN9Ac.2982A>T (p.Arg994Ser)
c.2949A>T (p.Arg983Ser)
c.1877-270A>T
n.870-4320T>A
c.2595A>T (p.Arg865Ser)
c.2238A>T (p.Arg746Ser)
2g.166272768T>CCA429978054SCN1A-AS1,SCN9Ac.2982A>G (p.Arg994=)
c.2949A>G (p.Arg983=)
c.1877-270A>G
n.870-4320T>C
c.2595A>G (p.Arg865=)
c.2238A>G (p.Arg746=)
 COSMIC COSMIC
2g.166272768T>GCA349074604SCN1A-AS1,SCN9Ac.2982A>C (p.Arg994Ser)
c.2949A>C (p.Arg983Ser)
c.1877-270A>C
n.870-4320T>G
c.2595A>C (p.Arg865Ser)
c.2238A>C (p.Arg746Ser)
2g.166272769C>ACA349074607SCN1A-AS1,SCN9Ac.2981G>T (p.Arg994Ile)
c.2948G>T (p.Arg983Ile)
c.1877-271G>T
n.870-4319C>A
c.2594G>T (p.Arg865Ile)
c.2237G>T (p.Arg746Ile)
 gnomAD v4
2g.166272769C>GCA349074609SCN1A-AS1,SCN9Ac.2981G>C (p.Arg994Thr)
c.2948G>C (p.Arg983Thr)
c.1877-271G>C
n.870-4319C>G
c.2594G>C (p.Arg865Thr)
c.2237G>C (p.Arg746Thr)
 gnomAD v4
2g.166272769C>TCA349074610SCN1A-AS1,SCN9Ac.2981G>A (p.Arg994Lys)
c.2948G>A (p.Arg983Lys)
c.1877-271G>A
n.870-4319C>T
c.2594G>A (p.Arg865Lys)
c.2237G>A (p.Arg746Lys)
 gnomAD v4
2g.166272770T>ACA349074615SCN1A-AS1,SCN9Ac.2980A>T (p.Arg994Ter)
c.2947A>T (p.Arg983Ter)
c.1877-272A>T
n.870-4318T>A
c.2593A>T (p.Arg865Ter)
c.2236A>T (p.Arg746Ter)
 dbSNP
2g.166272770T>CCA349074613SCN1A-AS1,SCN9Ac.2980A>G (p.Arg994Gly)
c.2947A>G (p.Arg983Gly)
c.1877-272A>G
n.870-4318T>C
c.2593A>G (p.Arg865Gly)
c.2236A>G (p.Arg746Gly)
 COSMIC COSMIC
2g.166272770T>GCA429978055SCN1A-AS1,SCN9Ac.2980A>C (p.Arg994=)
c.2947A>C (p.Arg983=)
c.1877-272A>C
n.870-4318T>G
c.2593A>C (p.Arg865=)
c.2236A>C (p.Arg746=)
2g.166272770T=CA1304962863SCN1A-AS1,SCN9Ac.2980A= (p.Arg994=)
c.2947A= (p.Arg983=)
c.1877-272A=
n.870-4318T=
c.2593A= (p.Arg865=)
c.2236A= (p.Arg746=)
2g.166272771A>CCA429978060SCN1A-AS1,SCN9Ac.2979T>G (p.Thr993=)
c.2946T>G (p.Thr982=)
c.1877-273T>G
n.870-4317A>C
c.2592T>G (p.Thr864=)
c.2235T>G (p.Thr745=)
2g.166272771A>GCA429978062SCN1A-AS1,SCN9Ac.2979T>C (p.Thr993=)
c.2946T>C (p.Thr982=)
c.1877-273T>C
n.870-4317A>G
c.2592T>C (p.Thr864=)
c.2235T>C (p.Thr745=)
2g.166272771A>TCA429978064SCN1A-AS1,SCN9Ac.2979T>A (p.Thr993=)
c.2946T>A (p.Thr982=)
c.1877-273T>A
n.870-4317A>T
c.2592T>A (p.Thr864=)
c.2235T>A (p.Thr745=)
2g.166272772G>ACA349074618SCN1A-AS1,SCN9Ac.2978C>T (p.Thr993Ile)
c.2945C>T (p.Thr982Ile)
c.1877-274C>T
n.870-4316G>A
c.2591C>T (p.Thr864Ile)
c.2234C>T (p.Thr745Ile)
2g.166272772G>CCA349074619SCN1A-AS1,SCN9Ac.2978C>G (p.Thr993Ser)
c.2945C>G (p.Thr982Ser)
c.1877-274C>G
n.870-4316G>C
c.2591C>G (p.Thr864Ser)
c.2234C>G (p.Thr745Ser)
2g.166272772G>TCA349074621SCN1A-AS1,SCN9Ac.2978C>A (p.Thr993Asn)
c.2945C>A (p.Thr982Asn)
c.1877-274C>A
n.870-4316G>T
c.2591C>A (p.Thr864Asn)
c.2234C>A (p.Thr745Asn)
2g.166272773T>ACA349074623SCN1A-AS1,SCN9Ac.2977A>T (p.Thr993Ser)
c.2944A>T (p.Thr982Ser)
c.1877-275A>T
n.870-4315T>A
c.2590A>T (p.Thr864Ser)
c.2233A>T (p.Thr745Ser)
2g.166272773T>CCA349074625SCN1A-AS1,SCN9Ac.2977A>G (p.Thr993Ala)
c.2944A>G (p.Thr982Ala)
c.1877-275A>G
n.870-4315T>C
c.2590A>G (p.Thr864Ala)
c.2233A>G (p.Thr745Ala)
2g.166272773T>GCA349074627SCN1A-AS1,SCN9Ac.2977A>C (p.Thr993Pro)
c.2944A>C (p.Thr982Pro)
c.1877-275A>C
n.870-4315T>G
c.2590A>C (p.Thr864Pro)
c.2233A>C (p.Thr745Pro)
 gnomAD v4
2g.166272774C>ACA429978066SCN1A-AS1,SCN9Ac.2976G>T (p.Val992=)
c.2943G>T (p.Val981=)
c.1877-276G>T
n.870-4314C>A
c.2589G>T (p.Val863=)
c.2232G>T (p.Val744=)
2g.166272774C=CA1304962864SCN1A-AS1,SCN9Ac.2976G= (p.Val992=)
c.2943G= (p.Val981=)
c.1877-276G=
n.870-4314C=
c.2589G= (p.Val863=)
c.2232G= (p.Val744=)
2g.166272774C>GCA429978068SCN1A-AS1,SCN9Ac.2976G>C (p.Val992=)
c.2943G>C (p.Val981=)
c.1877-276G>C
n.870-4314C>G
c.2589G>C (p.Val863=)
c.2232G>C (p.Val744=)
2g.166272774C>TCA429978071SCN1A-AS1,SCN9Ac.2976G>A (p.Val992=)
c.2943G>A (p.Val981=)
c.1877-276G>A
n.870-4314C>T
c.2589G>A (p.Val863=)
c.2232G>A (p.Val744=)
 dbSNP
2g.166272775A=CA1304962865SCN1A-AS1,SCN9Ac.2975T= (p.Val992=)
c.2942T= (p.Val981=)
c.1877-277T=
n.870-4313A=
c.2588T= (p.Val863=)
c.2231T= (p.Val744=)
2g.166272775A>CCA349074632SCN1A-AS1,SCN9Ac.2975T>G (p.Val992Gly)
c.2942T>G (p.Val981Gly)
c.1877-277T>G
n.870-4313A>C
c.2588T>G (p.Val863Gly)
c.2231T>G (p.Val744Gly)
 ClinVar dbSNP gnomAD v4
2g.166272775A>GCA16603954SCN1A-AS1,SCN9Ac.2975T>C (p.Val992Ala)
c.2942T>C (p.Val981Ala)
c.1877-277T>C
n.870-4313A>G
c.2588T>C (p.Val863Ala)
c.2231T>C (p.Val744Ala)
 ClinVar dbSNP
2g.166272775A>TCA349074629SCN1A-AS1,SCN9Ac.2975T>A (p.Val992Glu)
c.2942T>A (p.Val981Glu)
c.1877-277T>A
n.870-4313A>T
c.2588T>A (p.Val863Glu)
c.2231T>A (p.Val744Glu)
 gnomAD v4
2g.166272776C>ACA349074633SCN1A-AS1,SCN9Ac.2974G>T (p.Val992Leu)
c.2941G>T (p.Val981Leu)
c.1877-278G>T
n.870-4312C>A
c.2587G>T (p.Val863Leu)
c.2230G>T (p.Val744Leu)
 gnomAD v4
2g.166272776C>GCA349074635SCN1A-AS1,SCN9Ac.2974G>C (p.Val992Leu)
c.2941G>C (p.Val981Leu)
c.1877-278G>C
n.870-4312C>G
c.2587G>C (p.Val863Leu)
c.2230G>C (p.Val744Leu)
2g.166272776C>TCA349074636SCN1A-AS1,SCN9Ac.2974G>A (p.Val992Met)
c.2941G>A (p.Val981Met)
c.1877-278G>A
n.870-4312C>T
c.2587G>A (p.Val863Met)
c.2230G>A (p.Val744Met)
 gnomAD v4
2g.166272777T>ACA429978075SCN1A-AS1,SCN9Ac.2973A>T (p.Ala991=)
c.2940A>T (p.Ala980=)
c.1877-279A>T
n.870-4311T>A
c.2586A>T (p.Ala862=)
c.2229A>T (p.Ala743=)
2g.166272777T>CCA429978076SCN1A-AS1,SCN9Ac.2973A>G (p.Ala991=)
c.2940A>G (p.Ala980=)
c.1877-279A>G
n.870-4311T>C
c.2586A>G (p.Ala862=)
c.2229A>G (p.Ala743=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272777T>GCA429978077SCN1A-AS1,SCN9Ac.2973A>C (p.Ala991=)
c.2940A>C (p.Ala980=)
c.1877-279A>C
n.870-4311T>G
c.2586A>C (p.Ala862=)
c.2229A>C (p.Ala743=)
2g.166272777T=CA1304962866SCN1A-AS1,SCN9Ac.2973A= (p.Ala991=)
c.2940A= (p.Ala980=)
c.1877-279A=
n.870-4311T=
c.2586A= (p.Ala862=)
c.2229A= (p.Ala743=)
2g.166272778G>ACA349074637SCN1A-AS1,SCN9Ac.2972C>T (p.Ala991Val)
c.2939C>T (p.Ala980Val)
c.1877-280C>T
n.870-4310G>A
c.2585C>T (p.Ala862Val)
c.2228C>T (p.Ala743Val)
 dbSNP gnomAD v2 gnomAD v4
2g.166272778G>CCA349074638SCN1A-AS1,SCN9Ac.2972C>G (p.Ala991Gly)
c.2939C>G (p.Ala980Gly)
c.1877-280C>G
n.870-4310G>C
c.2585C>G (p.Ala862Gly)
c.2228C>G (p.Ala743Gly)
2g.166272778G=CA1304962867SCN1A-AS1,SCN9Ac.2972C= (p.Ala991=)
c.2939C= (p.Ala980=)
c.1877-280C=
n.870-4310G=
c.2585C= (p.Ala862=)
c.2228C= (p.Ala743=)
2g.166272778G>TCA349074640SCN1A-AS1,SCN9Ac.2972C>A (p.Ala991Glu)
c.2939C>A (p.Ala980Glu)
c.1877-280C>A
n.870-4310G>T
c.2585C>A (p.Ala862Glu)
c.2228C>A (p.Ala743Glu)
2g.166272779C>ACA349074642SCN1A-AS1,SCN9Ac.2971G>T (p.Ala991Ser)
c.2938G>T (p.Ala980Ser)
c.1877-281G>T
n.870-4309C>A
c.2584G>T (p.Ala862Ser)
c.2227G>T (p.Ala743Ser)
 gnomAD v4
2g.166272779C>GCA349074646SCN1A-AS1,SCN9Ac.2971G>C (p.Ala991Pro)
c.2938G>C (p.Ala980Pro)
c.1877-281G>C
n.870-4309C>G
c.2584G>C (p.Ala862Pro)
c.2227G>C (p.Ala743Pro)
2g.166272779C>TCA349074644SCN1A-AS1,SCN9Ac.2971G>A (p.Ala991Thr)
c.2938G>A (p.Ala980Thr)
c.1877-281G>A
n.870-4309C>T
c.2584G>A (p.Ala862Thr)
c.2227G>A (p.Ala743Thr)
2g.166272780A>CCA349074648SCN1A-AS1,SCN9Ac.2970T>G (p.Ile990Met)
c.2937T>G (p.Ile979Met)
c.1877-282T>G
n.870-4308A>C
c.2583T>G (p.Ile861Met)
c.2226T>G (p.Ile742Met)
2g.166272780A>GCA429978082SCN1A-AS1,SCN9Ac.2970T>C (p.Ile990=)
c.2937T>C (p.Ile979=)
c.1877-282T>C
n.870-4308A>G
c.2583T>C (p.Ile861=)
c.2226T>C (p.Ile742=)
 gnomAD v4
2g.166272780A>TCA429978083SCN1A-AS1,SCN9Ac.2970T>A (p.Ile990=)
c.2937T>A (p.Ile979=)
c.1877-282T>A
n.870-4308A>T
c.2583T>A (p.Ile861=)
c.2226T>A (p.Ile742=)
 gnomAD v4
2g.166272781delCA2586970692SCN1A-AS1,SCN9Ac.2970del (p.Ile990MetfsTer3)
c.2937del (p.Ile979MetfsTer3)
c.1877-282del
n.870-4307del
c.2583del (p.Ile861MetfsTer3)
c.2226del (p.Ile742MetfsTer3)
 gnomAD v4
2g.166272781A>CCA349074650SCN1A-AS1,SCN9Ac.2969T>G (p.Ile990Ser)
c.2936T>G (p.Ile979Ser)
c.1877-283T>G
n.870-4307A>C
c.2582T>G (p.Ile861Ser)
c.2225T>G (p.Ile742Ser)
2g.166272781A>GCA349074652SCN1A-AS1,SCN9Ac.2969T>C (p.Ile990Thr)
c.2936T>C (p.Ile979Thr)
c.1877-283T>C
n.870-4307A>G
c.2582T>C (p.Ile861Thr)
c.2225T>C (p.Ile742Thr)
 ClinVar dbSNP gnomAD v4
2g.166272781A>TCA349074653SCN1A-AS1,SCN9Ac.2969T>A (p.Ile990Asn)
c.2936T>A (p.Ile979Asn)
c.1877-283T>A
n.870-4307A>T
c.2582T>A (p.Ile861Asn)
c.2225T>A (p.Ile742Asn)
 ClinVar
2g.166272782T>ACA349074655SCN1A-AS1,SCN9Ac.2968A>T (p.Ile990Phe)
c.2935A>T (p.Ile979Phe)
c.1877-284A>T
n.870-4306T>A
c.2581A>T (p.Ile861Phe)
c.2224A>T (p.Ile742Phe)
2g.166272782T>CCA349074657SCN1A-AS1,SCN9Ac.2968A>G (p.Ile990Val)
c.2935A>G (p.Ile979Val)
c.1877-284A>G
n.870-4306T>C
c.2581A>G (p.Ile861Val)
c.2224A>G (p.Ile742Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166272782T>GCA349074658SCN1A-AS1,SCN9Ac.2968A>C (p.Ile990Leu)
c.2935A>C (p.Ile979Leu)
c.1877-284A>C
n.870-4306T>G
c.2581A>C (p.Ile861Leu)
c.2224A>C (p.Ile742Leu)
2g.166272782T=CA1304962868SCN1A-AS1,SCN9Ac.2968A= (p.Ile990=)
c.2935A= (p.Ile979=)
c.1877-284A=
n.870-4306T=
c.2581A= (p.Ile861=)
c.2224A= (p.Ile742=)
2g.166272783C>ACA349074661SCN1A-AS1,SCN9Ac.2967G>T (p.Gln989His)
c.2934G>T (p.Gln978His)
c.1877-285G>T
n.870-4305C>A
c.2580G>T (p.Gln860His)
c.2223G>T (p.Gln741His)
 gnomAD v4
2g.166272783C>GCA349074662SCN1A-AS1,SCN9Ac.2967G>C (p.Gln989His)
c.2934G>C (p.Gln978His)
c.1877-285G>C
n.870-4305C>G
c.2580G>C (p.Gln860His)
c.2223G>C (p.Gln741His)
2g.166272783C>TCA429978086SCN1A-AS1,SCN9Ac.2967G>A (p.Gln989=)
c.2934G>A (p.Gln978=)
c.1877-285G>A
n.870-4305C>T
c.2580G>A (p.Gln860=)
c.2223G>A (p.Gln741=)
2g.166272784T>ACA349074664SCN1A-AS1,SCN9Ac.2966A>T (p.Gln989Leu)
c.2933A>T (p.Gln978Leu)
c.1877-286A>T
n.870-4304T>A
c.2579A>T (p.Gln860Leu)
c.2222A>T (p.Gln741Leu)
2g.166272784T>CCA349074667SCN1A-AS1,SCN9Ac.2966A>G (p.Gln989Arg)
c.2933A>G (p.Gln978Arg)
c.1877-286A>G
n.870-4304T>C
c.2579A>G (p.Gln860Arg)
c.2222A>G (p.Gln741Arg)
 ClinVar dbSNP
2g.166272784T>GCA349074669SCN1A-AS1,SCN9Ac.2966A>C (p.Gln989Pro)
c.2933A>C (p.Gln978Pro)
c.1877-286A>C
n.870-4304T>G
c.2579A>C (p.Gln860Pro)
c.2222A>C (p.Gln741Pro)
2g.166272784T=CA1304962869SCN1A-AS1,SCN9Ac.2966A= (p.Gln989=)
c.2933A= (p.Gln978=)
c.1877-286A=
n.870-4304T=
c.2579A= (p.Gln860=)
c.2222A= (p.Gln741=)
2g.166272785G>ACA349074675SCN1A-AS1,SCN9Ac.2965C>T (p.Gln989Ter)
c.2932C>T (p.Gln978Ter)
c.1877-287C>T
n.870-4303G>A
c.2578C>T (p.Gln860Ter)
c.2221C>T (p.Gln741Ter)
 gnomAD v4
2g.166272785G>CCA349074671SCN1A-AS1,SCN9Ac.2965C>G (p.Gln989Glu)
c.2932C>G (p.Gln978Glu)
c.1877-287C>G
n.870-4303G>C
c.2578C>G (p.Gln860Glu)
c.2221C>G (p.Gln741Glu)
2g.166272785G>TCA349074673SCN1A-AS1,SCN9Ac.2965C>A (p.Gln989Lys)
c.2932C>A (p.Gln978Lys)
c.1877-287C>A
n.870-4303G>T
c.2578C>A (p.Gln860Lys)
c.2221C>A (p.Gln741Lys)
2g.166272786G>ACA1944159SCN1A-AS1,SCN9Ac.2964C>T (p.Leu988=)
c.2931C>T (p.Leu977=)
c.1877-288C>T
n.870-4302G>A
c.2577C>T (p.Leu859=)
c.2220C>T (p.Leu740=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272786G>CCA429978092SCN1A-AS1,SCN9Ac.2964C>G (p.Leu988=)
c.2931C>G (p.Leu977=)
c.1877-288C>G
n.870-4302G>C
c.2577C>G (p.Leu859=)
c.2220C>G (p.Leu740=)
2g.166272786G=CA1304962870SCN1A-AS1,SCN9Ac.2964C= (p.Leu988=)
c.2931C= (p.Leu977=)
c.1877-288C=
n.870-4302G=
c.2577C= (p.Leu859=)
c.2220C= (p.Leu740=)
2g.166272786G>TCA429978094SCN1A-AS1,SCN9Ac.2964C>A (p.Leu988=)
c.2931C>A (p.Leu977=)
c.1877-288C>A
n.870-4302G>T
c.2577C>A (p.Leu859=)
c.2220C>A (p.Leu740=)
2g.166272787A>CCA349074679SCN1A-AS1,SCN9Ac.2963T>G (p.Leu988Arg)
c.2930T>G (p.Leu977Arg)
c.1877-289T>G
n.870-4301A>C
c.2576T>G (p.Leu859Arg)
c.2219T>G (p.Leu740Arg)
2g.166272787A>GCA349074680SCN1A-AS1,SCN9Ac.2963T>C (p.Leu988Pro)
c.2930T>C (p.Leu977Pro)
c.1877-289T>C
n.870-4301A>G
c.2576T>C (p.Leu859Pro)
c.2219T>C (p.Leu740Pro)
2g.166272787A>TCA349074682SCN1A-AS1,SCN9Ac.2963T>A (p.Leu988His)
c.2930T>A (p.Leu977His)
c.1877-289T>A
n.870-4301A>T
c.2576T>A (p.Leu859His)
c.2219T>A (p.Leu740His)
2g.166272787_166272788delinsAGCA1304962871SCN1A-AS1,SCN9Ac.2962_2963delinsCT (p.Leu988=)
c.2929_2930delinsCT (p.Leu977=)
c.1877-290_1877-289delinsCT
n.870-4301_870-4300delinsAG
c.2575_2576delinsCT (p.Leu859=)
c.2218_2219delinsCT (p.Leu740=)
2g.166272788G>ACA1944160SCN1A-AS1,SCN9Ac.2962C>T (p.Leu988Phe)
c.2929C>T (p.Leu977Phe)
c.1877-290C>T
n.870-4300G>A
c.2575C>T (p.Leu859Phe)
c.2218C>T (p.Leu740Phe)
 dbSNP ExAC gnomAD v4
2g.166272788G>CCA349074685SCN1A-AS1,SCN9Ac.2962C>G (p.Leu988Val)
c.2929C>G (p.Leu977Val)
c.1877-290C>G
n.870-4300G>C
c.2575C>G (p.Leu859Val)
c.2218C>G (p.Leu740Val)
2g.166272788G=CA1304962873SCN1A-AS1,SCN9Ac.2962C= (p.Leu988=)
c.2929C= (p.Leu977=)
c.1877-290C=
n.870-4300G=
c.2575C= (p.Leu859=)
c.2218C= (p.Leu740=)
2g.166272788G>TCA349074687SCN1A-AS1,SCN9Ac.2962C>A (p.Leu988Ile)
c.2929C>A (p.Leu977Ile)
c.1877-290C>A
n.870-4300G>T
c.2575C>A (p.Leu859Ile)
c.2218C>A (p.Leu740Ile)
 gnomAD v4
2g.166272789delCA1304962872SCN1A-AS1,SCN9Ac.2962del (p.Leu988SerfsTer5)
c.2929del (p.Leu977SerfsTer5)
c.1877-290del
n.870-4299del
c.2575del (p.Leu859SerfsTer5)
c.2218del (p.Leu740SerfsTer5)
 dbSNP
2g.166272789G>ACA429978099SCN1A-AS1,SCN9Ac.2961C>T (p.Asn987=)
c.2928C>T (p.Asn976=)
c.1877-291C>T
n.870-4299G>A
c.2574C>T (p.Asn858=)
c.2217C>T (p.Asn739=)
 ClinVar
2g.166272789G>CCA349074692SCN1A-AS1,SCN9Ac.2961C>G (p.Asn987Lys)
c.2928C>G (p.Asn976Lys)
c.1877-291C>G
n.870-4299G>C
c.2574C>G (p.Asn858Lys)
c.2217C>G (p.Asn739Lys)
2g.166272789G>TCA349074694SCN1A-AS1,SCN9Ac.2961C>A (p.Asn987Lys)
c.2928C>A (p.Asn976Lys)
c.1877-291C>A
n.870-4299G>T
c.2574C>A (p.Asn858Lys)
c.2217C>A (p.Asn739Lys)
2g.166272790T>ACA349074697SCN1A-AS1,SCN9Ac.2960A>T (p.Asn987Ile)
c.2927A>T (p.Asn976Ile)
c.1877-292A>T
n.870-4298T>A
c.2573A>T (p.Asn858Ile)
c.2216A>T (p.Asn739Ile)
2g.166272790T>CCA349074698SCN1A-AS1,SCN9Ac.2960A>G (p.Asn987Ser)
c.2927A>G (p.Asn976Ser)
c.1877-292A>G
n.870-4298T>C
c.2573A>G (p.Asn858Ser)
c.2216A>G (p.Asn739Ser)
 ClinVar dbSNP
2g.166272790T>GCA349074700SCN1A-AS1,SCN9Ac.2960A>C (p.Asn987Thr)
c.2927A>C (p.Asn976Thr)
c.1877-292A>C
n.870-4298T>G
c.2573A>C (p.Asn858Thr)
c.2216A>C (p.Asn739Thr)
2g.166272791T>ACA349074703SCN1A-AS1,SCN9Ac.2959A>T (p.Asn987Tyr)
c.2926A>T (p.Asn976Tyr)
c.1877-293A>T
n.870-4297T>A
c.2572A>T (p.Asn858Tyr)
c.2215A>T (p.Asn739Tyr)
2g.166272791T>CCA349074704SCN1A-AS1,SCN9Ac.2959A>G (p.Asn987Asp)
c.2926A>G (p.Asn976Asp)
c.1877-293A>G
n.870-4297T>C
c.2572A>G (p.Asn858Asp)
c.2215A>G (p.Asn739Asp)
2g.166272791T>GCA349074705SCN1A-AS1,SCN9Ac.2959A>C (p.Asn987His)
c.2926A>C (p.Asn976His)
c.1877-293A>C
n.870-4297T>G
c.2572A>C (p.Asn858His)
c.2215A>C (p.Asn739His)
2g.166272792G>ACA429978101SCN1A-AS1,SCN9Ac.2958C>T (p.Asn986=)
c.2925C>T (p.Asn975=)
c.1877-294C>T
n.870-4296G>A
c.2571C>T (p.Asn857=)
c.2214C>T (p.Asn738=)
2g.166272792G>CCA349074707SCN1A-AS1,SCN9Ac.2958C>G (p.Asn986Lys)
c.2925C>G (p.Asn975Lys)
c.1877-294C>G
n.870-4296G>C
c.2571C>G (p.Asn857Lys)
c.2214C>G (p.Asn738Lys)
2g.166272792G>TCA349074709SCN1A-AS1,SCN9Ac.2958C>A (p.Asn986Lys)
c.2925C>A (p.Asn975Lys)
c.1877-294C>A
n.870-4296G>T
c.2571C>A (p.Asn857Lys)
c.2214C>A (p.Asn738Lys)
 gnomAD v4 COSMIC COSMIC
2g.166272793T>ACA349074712SCN1A-AS1,SCN9Ac.2957A>T (p.Asn986Ile)
c.2924A>T (p.Asn975Ile)
c.1877-295A>T
n.870-4295T>A
c.2570A>T (p.Asn857Ile)
c.2213A>T (p.Asn738Ile)
2g.166272793T>CCA349074714SCN1A-AS1,SCN9Ac.2957A>G (p.Asn986Ser)
c.2924A>G (p.Asn975Ser)
c.1877-295A>G
n.870-4295T>C
c.2570A>G (p.Asn857Ser)
c.2213A>G (p.Asn738Ser)
2g.166272793T>GCA349074716SCN1A-AS1,SCN9Ac.2957A>C (p.Asn986Thr)
c.2924A>C (p.Asn975Thr)
c.1877-295A>C
n.870-4295T>G
c.2570A>C (p.Asn857Thr)
c.2213A>C (p.Asn738Thr)
2g.166272794T>ACA349074719SCN1A-AS1,SCN9Ac.2956A>T (p.Asn986Tyr)
c.2923A>T (p.Asn975Tyr)
c.1877-296A>T
n.870-4294T>A
c.2569A>T (p.Asn857Tyr)
c.2212A>T (p.Asn738Tyr)
2g.166272794T>CCA349074720SCN1A-AS1,SCN9Ac.2956A>G (p.Asn986Asp)
c.2923A>G (p.Asn975Asp)
c.1877-296A>G
n.870-4294T>C
c.2569A>G (p.Asn857Asp)
c.2212A>G (p.Asn738Asp)
2g.166272794T>GCA349074722SCN1A-AS1,SCN9Ac.2956A>C (p.Asn986His)
c.2923A>C (p.Asn975His)
c.1877-296A>C
n.870-4294T>G
c.2569A>C (p.Asn857His)
c.2212A>C (p.Asn738His)
2g.166272795T>ACA429978105SCN1A-AS1,SCN9Ac.2955A>T (p.Ala985=)
c.2922A>T (p.Ala974=)
c.1877-297A>T
n.870-4293T>A
c.2568A>T (p.Ala856=)
c.2211A>T (p.Ala737=)
2g.166272795T>CCA429978107SCN1A-AS1,SCN9Ac.2955A>G (p.Ala985=)
c.2922A>G (p.Ala974=)
c.1877-297A>G
n.870-4293T>C
c.2568A>G (p.Ala856=)
c.2211A>G (p.Ala737=)
2g.166272795T>GCA429978106SCN1A-AS1,SCN9Ac.2955A>C (p.Ala985=)
c.2922A>C (p.Ala974=)
c.1877-297A>C
n.870-4293T>G
c.2568A>C (p.Ala856=)
c.2211A>C (p.Ala737=)
2g.166272796G>ACA349074725SCN1A-AS1,SCN9Ac.2954C>T (p.Ala985Val)
c.2921C>T (p.Ala974Val)
c.1877-298C>T
n.870-4292G>A
c.2567C>T (p.Ala856Val)
c.2210C>T (p.Ala737Val)
2g.166272796G>CCA349074726SCN1A-AS1,SCN9Ac.2954C>G (p.Ala985Gly)
c.2921C>G (p.Ala974Gly)
c.1877-298C>G
n.870-4292G>C
c.2567C>G (p.Ala856Gly)
c.2210C>G (p.Ala737Gly)
2g.166272796G>TCA349074728SCN1A-AS1,SCN9Ac.2954C>A (p.Ala985Glu)
c.2921C>A (p.Ala974Glu)
c.1877-298C>A
n.870-4292G>T
c.2567C>A (p.Ala856Glu)
c.2210C>A (p.Ala737Glu)
 gnomAD v4
2g.166272797C>ACA349074731SCN1A-AS1,SCN9Ac.2953G>T (p.Ala985Ser)
c.2920G>T (p.Ala974Ser)
c.1877-299G>T
n.870-4291C>A
c.2566G>T (p.Ala856Ser)
c.2209G>T (p.Ala737Ser)
 gnomAD v4
2g.166272797C>GCA349074732SCN1A-AS1,SCN9Ac.2953G>C (p.Ala985Pro)
c.2920G>C (p.Ala974Pro)
c.1877-299G>C
n.870-4291C>G
c.2566G>C (p.Ala856Pro)
c.2209G>C (p.Ala737Pro)
2g.166272797C>TCA349074734SCN1A-AS1,SCN9Ac.2953G>A (p.Ala985Thr)
c.2920G>A (p.Ala974Thr)
c.1877-299G>A
n.870-4291C>T
c.2566G>A (p.Ala856Thr)
c.2209G>A (p.Ala737Thr)
 ClinVar
2g.166272798A=CA1304962874SCN1A-AS1,SCN9Ac.2952T= (p.Asp984=)
c.2919T= (p.Asp973=)
c.1877-300T=
n.870-4290A=
c.2565T= (p.Asp855=)
c.2208T= (p.Asp736=)
2g.166272798A>CCA349074737SCN1A-AS1,SCN9Ac.2952T>G (p.Asp984Glu)
c.2919T>G (p.Asp973Glu)
c.1877-300T>G
n.870-4290A>C
c.2565T>G (p.Asp855Glu)
c.2208T>G (p.Asp736Glu)
 dbSNP
2g.166272798A>GCA1944161SCN1A-AS1,SCN9Ac.2952T>C (p.Asp984=)
c.2919T>C (p.Asp973=)
c.1877-300T>C
n.870-4290A>G
c.2565T>C (p.Asp855=)
c.2208T>C (p.Asp736=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272798A>TCA349074739SCN1A-AS1,SCN9Ac.2952T>A (p.Asp984Glu)
c.2919T>A (p.Asp973Glu)
c.1877-300T>A
n.870-4290A>T
c.2565T>A (p.Asp855Glu)
c.2208T>A (p.Asp736Glu)
2g.166272799T>ACA349074743SCN1A-AS1,SCN9Ac.2951A>T (p.Asp984Val)
c.2918A>T (p.Asp973Val)
c.1877-301A>T
n.870-4289T>A
c.2564A>T (p.Asp855Val)
c.2207A>T (p.Asp736Val)
n.3419A>T
2g.166272799T>CCA349074745SCN1A-AS1,SCN9Ac.2951A>G (p.Asp984Gly)
c.2918A>G (p.Asp973Gly)
c.1877-301A>G
n.870-4289T>C
c.2564A>G (p.Asp855Gly)
c.2207A>G (p.Asp736Gly)
n.3419A>G
2g.166272799T>GCA349074746SCN1A-AS1,SCN9Ac.2951A>C (p.Asp984Ala)
c.2918A>C (p.Asp973Ala)
c.1877-301A>C
n.870-4289T>G
c.2564A>C (p.Asp855Ala)
c.2207A>C (p.Asp736Ala)
n.3419A>C
2g.166272800C>ACA349074749SCN1A-AS1,SCN9Ac.2950G>T (p.Asp984Tyr)
c.2917G>T (p.Asp973Tyr)
c.1877-302G>T
n.870-4288C>A
c.2563G>T (p.Asp855Tyr)
c.2206G>T (p.Asp736Tyr)
n.3418G>T
 gnomAD v4
2g.166272800C>GCA349074751SCN1A-AS1,SCN9Ac.2950G>C (p.Asp984His)
c.2917G>C (p.Asp973His)
c.1877-302G>C
n.870-4288C>G
c.2563G>C (p.Asp855His)
c.2206G>C (p.Asp736His)
n.3418G>C
2g.166272800C>TCA349074752SCN1A-AS1,SCN9Ac.2950G>A (p.Asp984Asn)
c.2917G>A (p.Asp973Asn)
c.1877-302G>A
n.870-4288C>T
c.2563G>A (p.Asp855Asn)
c.2206G>A (p.Asp736Asn)
n.3418G>A
2g.166272801A>CCA429978118SCN1A-AS1,SCN9Ac.2949T>G (p.Pro983=)
c.2916T>G (p.Pro972=)
c.1877-303T>G
n.870-4287A>C
c.2562T>G (p.Pro854=)
c.2205T>G (p.Pro735=)
n.3417T>G
 gnomAD v4
2g.166272801A>GCA429978119SCN1A-AS1,SCN9Ac.2949T>C (p.Pro983=)
c.2916T>C (p.Pro972=)
c.1877-303T>C
n.870-4287A>G
c.2562T>C (p.Pro854=)
c.2205T>C (p.Pro735=)
n.3417T>C
2g.166272801A>TCA429978120SCN1A-AS1,SCN9Ac.2949T>A (p.Pro983=)
c.2916T>A (p.Pro972=)
c.1877-303T>A
n.870-4287A>T
c.2562T>A (p.Pro854=)
c.2205T>A (p.Pro735=)
n.3417T>A
2g.166272802G>ACA349074759SCN1A-AS1,SCN9Ac.2948C>T (p.Pro983Leu)
c.2915C>T (p.Pro972Leu)
c.1877-304C>T
n.870-4286G>A
c.2561C>T (p.Pro854Leu)
c.2204C>T (p.Pro735Leu)
n.3416C>T
 dbSNP
2g.166272802G>CCA349074755SCN1A-AS1,SCN9Ac.2948C>G (p.Pro983Arg)
c.2915C>G (p.Pro972Arg)
c.1877-304C>G
n.870-4286G>C
c.2561C>G (p.Pro854Arg)
c.2204C>G (p.Pro735Arg)
n.3416C>G
2g.166272802G=CA1304962875SCN1A-AS1,SCN9Ac.2948C= (p.Pro983=)
c.2915C= (p.Pro972=)
c.1877-304C=
n.870-4286G=
c.2561C= (p.Pro854=)
c.2204C= (p.Pro735=)
n.3416C=
2g.166272802G>TCA349074757SCN1A-AS1,SCN9Ac.2948C>A (p.Pro983His)
c.2915C>A (p.Pro972His)
c.1877-304C>A
n.870-4286G>T
c.2561C>A (p.Pro854His)
c.2204C>A (p.Pro735His)
n.3416C>A
2g.166272803G>ACA349074761SCN1A-AS1,SCN9Ac.2947C>T (p.Pro983Ser)
c.2914C>T (p.Pro972Ser)
c.1877-305C>T
n.870-4285G>A
c.2560C>T (p.Pro854Ser)
c.2203C>T (p.Pro735Ser)
n.3415C>T
 gnomAD v4 COSMIC COSMIC
2g.166272803G>CCA349074763SCN1A-AS1,SCN9Ac.2947C>G (p.Pro983Ala)
c.2914C>G (p.Pro972Ala)
c.1877-305C>G
n.870-4285G>C
c.2560C>G (p.Pro854Ala)
c.2203C>G (p.Pro735Ala)
n.3415C>G
 dbSNP
2g.166272803G=CA1304962876SCN1A-AS1,SCN9Ac.2947C= (p.Pro983=)
c.2914C= (p.Pro972=)
c.1877-305C=
n.870-4285G=
c.2560C= (p.Pro854=)
c.2203C= (p.Pro735=)
n.3415C=
2g.166272803G>TCA349074765SCN1A-AS1,SCN9Ac.2947C>A (p.Pro983Thr)
c.2914C>A (p.Pro972Thr)
c.1877-305C>A
n.870-4285G>T
c.2560C>A (p.Pro854Thr)
c.2203C>A (p.Pro735Thr)
n.3415C>A
2g.166272804G>ACA429978125SCN1A-AS1,SCN9Ac.2946C>T (p.Asp982=)
c.2913C>T (p.Asp971=)
c.1877-306C>T
n.870-4284G>A
c.2559C>T (p.Asp853=)
c.2202C>T (p.Asp734=)
n.3414C>T
 dbSNP
2g.166272804G>CCA349074767SCN1A-AS1,SCN9Ac.2946C>G (p.Asp982Glu)
c.2913C>G (p.Asp971Glu)
c.1877-306C>G
n.870-4284G>C
c.2559C>G (p.Asp853Glu)
c.2202C>G (p.Asp734Glu)
n.3414C>G
2g.166272804G=CA1304962877SCN1A-AS1,SCN9Ac.2946C= (p.Asp982=)
c.2913C= (p.Asp971=)
c.1877-306C=
n.870-4284G=
c.2559C= (p.Asp853=)
c.2202C= (p.Asp734=)
n.3414C=
2g.166272804G>TCA349074769SCN1A-AS1,SCN9Ac.2946C>A (p.Asp982Glu)
c.2913C>A (p.Asp971Glu)
c.1877-306C>A
n.870-4284G>T
c.2559C>A (p.Asp853Glu)
c.2202C>A (p.Asp734Glu)
n.3414C>A
 ClinVar
2g.166272805T>ACA349074774SCN1A-AS1,SCN9Ac.2945A>T (p.Asp982Val)
c.2912A>T (p.Asp971Val)
c.1877-307A>T
n.870-4283T>A
c.2558A>T (p.Asp853Val)
c.2201A>T (p.Asp734Val)
n.3413A>T
2g.166272805T>CCA59791822SCN1A-AS1,SCN9Ac.2945A>G (p.Asp982Gly)
c.2912A>G (p.Asp971Gly)
c.1877-307A>G
n.870-4283T>C
c.2558A>G (p.Asp853Gly)
c.2201A>G (p.Asp734Gly)
n.3413A>G
 dbSNP
2g.166272805T>GCA349074773SCN1A-AS1,SCN9Ac.2945A>C (p.Asp982Ala)
c.2912A>C (p.Asp971Ala)
c.1877-307A>C
n.870-4283T>G
c.2558A>C (p.Asp853Ala)
c.2201A>C (p.Asp734Ala)
n.3413A>C
2g.166272805T=CA1304962878SCN1A-AS1,SCN9Ac.2945A= (p.Asp982=)
c.2912A= (p.Asp971=)
c.1877-307A=
n.870-4283T=
c.2558A= (p.Asp853=)
c.2201A= (p.Asp734=)
n.3413A=
2g.166272810_166272812delCA429978126SCN1A-AS1,SCN9Ac.2943_2945del (p.Glu981del)
c.2910_2912del (p.Glu970del)
c.1877-309_1877-307del
n.870-4278_870-4276del
c.2556_2558del (p.Glu852del)
c.2199_2201del (p.Glu733del)
n.3411_3413del
 gnomAD v4
2g.166272806C>ACA349074776SCN1A-AS1,SCN9Ac.2944G>T (p.Asp982Tyr)
c.2911G>T (p.Asp971Tyr)
c.1877-308G>T
n.870-4282C>A
c.2557G>T (p.Asp853Tyr)
c.2200G>T (p.Asp734Tyr)
n.3412G>T
2g.166272806C>GCA349074778SCN1A-AS1,SCN9Ac.2944G>C (p.Asp982His)
c.2911G>C (p.Asp971His)
c.1877-308G>C
n.870-4282C>G
c.2557G>C (p.Asp853His)
c.2200G>C (p.Asp734His)
n.3412G>C
2g.166272806C>TCA349074779SCN1A-AS1,SCN9Ac.2944G>A (p.Asp982Asn)
c.2911G>A (p.Asp971Asn)
c.1877-308G>A
n.870-4282C>T
c.2557G>A (p.Asp853Asn)
c.2200G>A (p.Asp734Asn)
n.3412G>A
2g.166272807T>ACA349074782SCN1A-AS1,SCN9Ac.2943A>T (p.Glu981Asp)
c.2910A>T (p.Glu970Asp)
c.1877-309A>T
n.870-4281T>A
c.2556A>T (p.Glu852Asp)
c.2199A>T (p.Glu733Asp)
n.3411A>T
2g.166272807T>CCA429978132SCN1A-AS1,SCN9Ac.2943A>G (p.Glu981=)
c.2910A>G (p.Glu970=)
c.1877-309A>G
n.870-4281T>C
c.2556A>G (p.Glu852=)
c.2199A>G (p.Glu733=)
n.3411A>G
 gnomAD v4
2g.166272807T>GCA349074783SCN1A-AS1,SCN9Ac.2943A>C (p.Glu981Asp)
c.2910A>C (p.Glu970Asp)
c.1877-309A>C
n.870-4281T>G
c.2556A>C (p.Glu852Asp)
c.2199A>C (p.Glu733Asp)
n.3411A>C
2g.166272808T>ACA349074785SCN1A-AS1,SCN9Ac.2942A>T (p.Glu981Val)
c.2909A>T (p.Glu970Val)
c.1877-310A>T
n.870-4280T>A
c.2555A>T (p.Glu852Val)
c.2198A>T (p.Glu733Val)
n.3410A>T
2g.166272808T>CCA349074787SCN1A-AS1,SCN9Ac.2942A>G (p.Glu981Gly)
c.2909A>G (p.Glu970Gly)
c.1877-310A>G
n.870-4280T>C
c.2555A>G (p.Glu852Gly)
c.2198A>G (p.Glu733Gly)
n.3410A>G
2g.166272808T>GCA349074789SCN1A-AS1,SCN9Ac.2942A>C (p.Glu981Ala)
c.2909A>C (p.Glu970Ala)
c.1877-310A>C
n.870-4280T>G
c.2555A>C (p.Glu852Ala)
c.2198A>C (p.Glu733Ala)
n.3410A>C
2g.166272809C>ACA349074791SCN1A-AS1,SCN9Ac.2941G>T (p.Glu981Ter)
c.2908G>T (p.Glu970Ter)
c.1877-311G>T
n.870-4279C>A
c.2554G>T (p.Glu852Ter)
c.2197G>T (p.Glu733Ter)
n.3409G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166272809C=CA1304962879SCN1A-AS1,SCN9Ac.2941G= (p.Glu981=)
c.2908G= (p.Glu970=)
c.1877-311G=
n.870-4279C=
c.2554G= (p.Glu852=)
c.2197G= (p.Glu733=)
n.3409G=
2g.166272809C>GCA349074793SCN1A-AS1,SCN9Ac.2941G>C (p.Glu981Gln)
c.2908G>C (p.Glu970Gln)
c.1877-311G>C
n.870-4279C>G
c.2554G>C (p.Glu852Gln)
c.2197G>C (p.Glu733Gln)
n.3409G>C
2g.166272809C>TCA349074795SCN1A-AS1,SCN9Ac.2941G>A (p.Glu981Lys)
c.2908G>A (p.Glu970Lys)
c.1877-311G>A
n.870-4279C>T
c.2554G>A (p.Glu852Lys)
c.2197G>A (p.Glu733Lys)
n.3409G>A
 COSMIC COSMIC
2g.166272810T>ACA349074796SCN1A-AS1,SCN9Ac.2940A>T (p.Glu980Asp)
c.2907A>T (p.Glu969Asp)
c.1877-312A>T
n.870-4278T>A
c.2553A>T (p.Glu851Asp)
c.2196A>T (p.Glu732Asp)
n.3408A>T
2g.166272810T>CCA429978136SCN1A-AS1,SCN9Ac.2940A>G (p.Glu980=)
c.2907A>G (p.Glu969=)
c.1877-312A>G
n.870-4278T>C
c.2553A>G (p.Glu851=)
c.2196A>G (p.Glu732=)
n.3408A>G
2g.166272810T>GCA349074798SCN1A-AS1,SCN9Ac.2940A>C (p.Glu980Asp)
c.2907A>C (p.Glu969Asp)
c.1877-312A>C
n.870-4278T>G
c.2553A>C (p.Glu851Asp)
c.2196A>C (p.Glu732Asp)
n.3408A>C
2g.166272811T>ACA349074801SCN1A-AS1,SCN9Ac.2939A>T (p.Glu980Val)
c.2906A>T (p.Glu969Val)
c.1877-313A>T
n.870-4277T>A
c.2552A>T (p.Glu851Val)
c.2195A>T (p.Glu732Val)
n.3407A>T
2g.166272811T>CCA349074804SCN1A-AS1,SCN9Ac.2939A>G (p.Glu980Gly)
c.2906A>G (p.Glu969Gly)
c.1877-313A>G
n.870-4277T>C
c.2552A>G (p.Glu851Gly)
c.2195A>G (p.Glu732Gly)
n.3407A>G
 gnomAD v4
2g.166272811T>GCA349074802SCN1A-AS1,SCN9Ac.2939A>C (p.Glu980Ala)
c.2906A>C (p.Glu969Ala)
c.1877-313A>C
n.870-4277T>G
c.2552A>C (p.Glu851Ala)
c.2195A>C (p.Glu732Ala)
n.3407A>C
2g.166272812C>ACA349074807SCN1A-AS1,SCN9Ac.2938G>T (p.Glu980Ter)
c.2905G>T (p.Glu969Ter)
c.1877-314G>T
n.870-4276C>A
c.2551G>T (p.Glu851Ter)
c.2194G>T (p.Glu732Ter)
n.3406G>T
2g.166272812C>GCA349074808SCN1A-AS1,SCN9Ac.2938G>C (p.Glu980Gln)
c.2905G>C (p.Glu969Gln)
c.1877-314G>C
n.870-4276C>G
c.2551G>C (p.Glu851Gln)
c.2194G>C (p.Glu732Gln)
n.3406G>C
2g.166272812C>TCA349074810SCN1A-AS1,SCN9Ac.2938G>A (p.Glu980Lys)
c.2905G>A (p.Glu969Lys)
c.1877-314G>A
n.870-4276C>T
c.2551G>A (p.Glu851Lys)
c.2194G>A (p.Glu732Lys)
n.3406G>A
2g.166272813A>CCA349074812SCN1A-AS1,SCN9Ac.2937T>G (p.Ile979Met)
c.2904T>G (p.Ile968Met)
c.1877-315T>G
n.870-4275A>C
c.2550T>G (p.Ile850Met)
c.2193T>G (p.Ile731Met)
n.3405T>G
2g.166272813A>GCA429978139SCN1A-AS1,SCN9Ac.2937T>C (p.Ile979=)
c.2904T>C (p.Ile968=)
c.1877-315T>C
n.870-4275A>G
c.2550T>C (p.Ile850=)
c.2193T>C (p.Ile731=)
n.3405T>C
2g.166272813A>TCA429978142SCN1A-AS1,SCN9Ac.2937T>A (p.Ile979=)
c.2904T>A (p.Ile968=)
c.1877-315T>A
n.870-4275A>T
c.2550T>A (p.Ile850=)
c.2193T>A (p.Ile731=)
n.3405T>A
2g.166272814A>CCA349074815SCN1A-AS1,SCN9Ac.2936T>G (p.Ile979Ser)
c.2903T>G (p.Ile968Ser)
c.1877-316T>G
n.870-4274A>C
c.2549T>G (p.Ile850Ser)
c.2192T>G (p.Ile731Ser)
n.3404T>G
2g.166272814A>GCA349074817SCN1A-AS1,SCN9Ac.2936T>C (p.Ile979Thr)
c.2903T>C (p.Ile968Thr)
c.1877-316T>C
n.870-4274A>G
c.2549T>C (p.Ile850Thr)
c.2192T>C (p.Ile731Thr)
n.3404T>C
2g.166272814A>TCA349074819SCN1A-AS1,SCN9Ac.2936T>A (p.Ile979Asn)
c.2903T>A (p.Ile968Asn)
c.1877-316T>A
n.870-4274A>T
c.2549T>A (p.Ile850Asn)
c.2192T>A (p.Ile731Asn)
n.3404T>A
2g.166272815T>ACA349074821SCN1A-AS1,SCN9Ac.2935A>T (p.Ile979Phe)
c.2902A>T (p.Ile968Phe)
c.1877-317A>T
n.870-4273T>A
c.2548A>T (p.Ile850Phe)
c.2191A>T (p.Ile731Phe)
n.3403A>T
2g.166272815T>CCA349074822SCN1A-AS1,SCN9Ac.2935A>G (p.Ile979Val)
c.2902A>G (p.Ile968Val)
c.1877-317A>G
n.870-4273T>C
c.2548A>G (p.Ile850Val)
c.2191A>G (p.Ile731Val)
n.3403A>G
2g.166272815T>GCA349074823SCN1A-AS1,SCN9Ac.2935A>C (p.Ile979Leu)
c.2902A>C (p.Ile968Leu)
c.1877-317A>C
n.870-4273T>G
c.2548A>C (p.Ile850Leu)
c.2191A>C (p.Ile731Leu)
n.3403A>C
2g.166272816T>ACA429978150SCN1A-AS1,SCN9Ac.2934A>T (p.Ala978=)
c.2901A>T (p.Ala967=)
c.1877-318A>T
n.870-4272T>A
c.2547A>T (p.Ala849=)
c.2190A>T (p.Ala730=)
n.3402A>T
2g.166272816T>CCA429978146SCN1A-AS1,SCN9Ac.2934A>G (p.Ala978=)
c.2901A>G (p.Ala967=)
c.1877-318A>G
n.870-4272T>C
c.2547A>G (p.Ala849=)
c.2190A>G (p.Ala730=)
n.3402A>G
2g.166272816T>GCA429978147SCN1A-AS1,SCN9Ac.2934A>C (p.Ala978=)
c.2901A>C (p.Ala967=)
c.1877-318A>C
n.870-4272T>G
c.2547A>C (p.Ala849=)
c.2190A>C (p.Ala730=)
n.3402A>C
2g.166272817G>ACA349074825SCN1A-AS1,SCN9Ac.2933C>T (p.Ala978Val)
c.2900C>T (p.Ala967Val)
c.1877-319C>T
n.870-4271G>A
c.2546C>T (p.Ala849Val)
c.2189C>T (p.Ala730Val)
n.3401C>T
2g.166272817G>CCA349074827SCN1A-AS1,SCN9Ac.2933C>G (p.Ala978Gly)
c.2900C>G (p.Ala967Gly)
c.1877-319C>G
n.870-4271G>C
c.2546C>G (p.Ala849Gly)
c.2189C>G (p.Ala730Gly)
n.3401C>G
2g.166272817G>TCA349074829SCN1A-AS1,SCN9Ac.2933C>A (p.Ala978Glu)
c.2900C>A (p.Ala967Glu)
c.1877-319C>A
n.870-4271G>T
c.2546C>A (p.Ala849Glu)
c.2189C>A (p.Ala730Glu)
n.3401C>A
2g.166272818C>ACA349074831SCN1A-AS1,SCN9Ac.2932G>T (p.Ala978Ser)
c.2899G>T (p.Ala967Ser)
c.1877-320G>T
n.870-4270C>A
c.2545G>T (p.Ala849Ser)
c.2188G>T (p.Ala730Ser)
n.3400G>T
2g.166272818C=CA1304962880SCN1A-AS1,SCN9Ac.2932G= (p.Ala978=)
c.2899G= (p.Ala967=)
c.1877-320G=
n.870-4270C=
c.2545G= (p.Ala849=)
c.2188G= (p.Ala730=)
n.3400G=
2g.166272818C>GCA349074835SCN1A-AS1,SCN9Ac.2932G>C (p.Ala978Pro)
c.2899G>C (p.Ala967Pro)
c.1877-320G>C
n.870-4270C>G
c.2545G>C (p.Ala849Pro)
c.2188G>C (p.Ala730Pro)
n.3400G>C
2g.166272818C>TCA349074833SCN1A-AS1,SCN9Ac.2932G>A (p.Ala978Thr)
c.2899G>A (p.Ala967Thr)
c.1877-320G>A
n.870-4270C>T
c.2545G>A (p.Ala849Thr)
c.2188G>A (p.Ala730Thr)
n.3400G>A
 dbSNP gnomAD v2
2g.166272819T>ACA429978153SCN1A-AS1,SCN9Ac.2931A>T (p.Thr977=)
c.2898A>T (p.Thr966=)
c.1877-321A>T
n.870-4269T>A
c.2544A>T (p.Thr848=)
c.2187A>T (p.Thr729=)
n.3399A>T
2g.166272819T>CCA429978154SCN1A-AS1,SCN9Ac.2931A>G (p.Thr977=)
c.2898A>G (p.Thr966=)
c.1877-321A>G
n.870-4269T>C
c.2544A>G (p.Thr848=)
c.2187A>G (p.Thr729=)
n.3399A>G
 ClinVar dbSNP
2g.166272819T>GCA1944162SCN1A-AS1,SCN9Ac.2931A>C (p.Thr977=)
c.2898A>C (p.Thr966=)
c.1877-321A>C
n.870-4269T>G
c.2544A>C (p.Thr848=)
c.2187A>C (p.Thr729=)
n.3399A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272819T=CA1304962881SCN1A-AS1,SCN9Ac.2931A= (p.Thr977=)
c.2898A= (p.Thr966=)
c.1877-321A=
n.870-4269T=
c.2544A= (p.Thr848=)
c.2187A= (p.Thr729=)
n.3399A=
2g.166272820G>ACA349074839SCN1A-AS1,SCN9Ac.2930C>T (p.Thr977Ile)
c.2897C>T (p.Thr966Ile)
c.1877-322C>T
n.870-4268G>A
c.2543C>T (p.Thr848Ile)
c.2186C>T (p.Thr729Ile)
n.3398C>T
2g.166272820G>CCA349074841SCN1A-AS1,SCN9Ac.2930C>G (p.Thr977Arg)
c.2897C>G (p.Thr966Arg)
c.1877-322C>G
n.870-4268G>C
c.2543C>G (p.Thr848Arg)
c.2186C>G (p.Thr729Arg)
n.3398C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166272820G=CA1304962882SCN1A-AS1,SCN9Ac.2930C= (p.Thr977=)
c.2897C= (p.Thr966=)
c.1877-322C=
n.870-4268G=
c.2543C= (p.Thr848=)
c.2186C= (p.Thr729=)
n.3398C=
2g.166272820G>TCA349074843SCN1A-AS1,SCN9Ac.2930C>A (p.Thr977Lys)
c.2897C>A (p.Thr966Lys)
c.1877-322C>A
n.870-4268G>T
c.2543C>A (p.Thr848Lys)
c.2186C>A (p.Thr729Lys)
n.3398C>A
 dbSNP gnomAD v3 gnomAD v4
2g.166272821T>ACA349074845SCN1A-AS1,SCN9Ac.2929A>T (p.Thr977Ser)
c.2896A>T (p.Thr966Ser)
c.1877-323A>T
n.870-4267T>A
c.2542A>T (p.Thr848Ser)
c.2185A>T (p.Thr729Ser)
n.3397A>T
2g.166272821T>CCA349074847SCN1A-AS1,SCN9Ac.2929A>G (p.Thr977Ala)
c.2896A>G (p.Thr966Ala)
c.1877-323A>G
n.870-4267T>C
c.2542A>G (p.Thr848Ala)
c.2185A>G (p.Thr729Ala)
n.3397A>G
2g.166272821T>GCA349074849SCN1A-AS1,SCN9Ac.2929A>C (p.Thr977Pro)
c.2896A>C (p.Thr966Pro)
c.1877-323A>C
n.870-4267T>G
c.2542A>C (p.Thr848Pro)
c.2185A>C (p.Thr729Pro)
n.3397A>C
2g.166272822A=CA1304962883SCN1A-AS1,SCN9Ac.2928T= (p.Leu976=)
c.2895T= (p.Leu965=)
c.1877-324T=
n.870-4266A=
c.2541T= (p.Leu847=)
c.2184T= (p.Leu728=)
n.3396T=
2g.166272822A>CCA429978157SCN1A-AS1,SCN9Ac.2928T>G (p.Leu976=)
c.2895T>G (p.Leu965=)
c.1877-324T>G
n.870-4266A>C
c.2541T>G (p.Leu847=)
c.2184T>G (p.Leu728=)
n.3396T>G
2g.166272822A>GCA1944163SCN1A-AS1,SCN9Ac.2928T>C (p.Leu976=)
c.2895T>C (p.Leu965=)
c.1877-324T>C
n.870-4266A>G
c.2541T>C (p.Leu847=)
c.2184T>C (p.Leu728=)
n.3396T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272822A>TCA429978156SCN1A-AS1,SCN9Ac.2928T>A (p.Leu976=)
c.2895T>A (p.Leu965=)
c.1877-324T>A
n.870-4266A>T
c.2541T>A (p.Leu847=)
c.2184T>A (p.Leu728=)
n.3396T>A
2g.166272823A>CCA349074851SCN1A-AS1,SCN9Ac.2927T>G (p.Leu976Arg)
c.2894T>G (p.Leu965Arg)
c.1877-325T>G
n.870-4265A>C
c.2540T>G (p.Leu847Arg)
c.2183T>G (p.Leu728Arg)
n.3395T>G
2g.166272823A>GCA349074853SCN1A-AS1,SCN9Ac.2927T>C (p.Leu976Pro)
c.2894T>C (p.Leu965Pro)
c.1877-325T>C
n.870-4265A>G
c.2540T>C (p.Leu847Pro)
c.2183T>C (p.Leu728Pro)
n.3395T>C
2g.166272823A>TCA349074855SCN1A-AS1,SCN9Ac.2927T>A (p.Leu976His)
c.2894T>A (p.Leu965His)
c.1877-325T>A
n.870-4265A>T
c.2540T>A (p.Leu847His)
c.2183T>A (p.Leu728His)
n.3395T>A
2g.166272824G>ACA349074860SCN1A-AS1,SCN9Ac.2926C>T (p.Leu976Phe)
c.2893C>T (p.Leu965Phe)
c.1877-326C>T
n.870-4264G>A
c.2539C>T (p.Leu847Phe)
c.2182C>T (p.Leu728Phe)
n.3394C>T
2g.166272824G>CCA349074862SCN1A-AS1,SCN9Ac.2926C>G (p.Leu976Val)
c.2893C>G (p.Leu965Val)
c.1877-326C>G
n.870-4264G>C
c.2539C>G (p.Leu847Val)
c.2182C>G (p.Leu728Val)
n.3394C>G
2g.166272824G>TCA349074857SCN1A-AS1,SCN9Ac.2926C>A (p.Leu976Ile)
c.2893C>A (p.Leu965Ile)
c.1877-326C>A
n.870-4264G>T
c.2539C>A (p.Leu847Ile)
c.2182C>A (p.Leu728Ile)
n.3394C>A
2g.166272825A>CCA349074866SCN1A-AS1,SCN9Ac.2925T>G (p.Asn975Lys)
c.2892T>G (p.Asn964Lys)
c.1877-327T>G
n.870-4263A>C
c.2538T>G (p.Asn846Lys)
c.2181T>G (p.Asn727Lys)
n.3393T>G
2g.166272825A>GCA429978160SCN1A-AS1,SCN9Ac.2925T>C (p.Asn975=)
c.2892T>C (p.Asn964=)
c.1877-327T>C
n.870-4263A>G
c.2538T>C (p.Asn846=)
c.2181T>C (p.Asn727=)
n.3393T>C
 gnomAD v4
2g.166272825A>TCA349074864SCN1A-AS1,SCN9Ac.2925T>A (p.Asn975Lys)
c.2892T>A (p.Asn964Lys)
c.1877-327T>A
n.870-4263A>T
c.2538T>A (p.Asn846Lys)
c.2181T>A (p.Asn727Lys)
n.3393T>A
2g.166272826T>ACA349074869SCN1A-AS1,SCN9Ac.2924A>T (p.Asn975Ile)
c.2891A>T (p.Asn964Ile)
c.1877-328A>T
n.870-4262T>A
c.2537A>T (p.Asn846Ile)
c.2180A>T (p.Asn727Ile)
n.3392A>T
2g.166272826T>CCA1944164SCN1A-AS1,SCN9Ac.2924A>G (p.Asn975Ser)
c.2891A>G (p.Asn964Ser)
c.1877-328A>G
n.870-4262T>C
c.2537A>G (p.Asn846Ser)
c.2180A>G (p.Asn727Ser)
n.3392A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166272826T>GCA349074871SCN1A-AS1,SCN9Ac.2924A>C (p.Asn975Thr)
c.2891A>C (p.Asn964Thr)
c.1877-328A>C
n.870-4262T>G
c.2537A>C (p.Asn846Thr)
c.2180A>C (p.Asn727Thr)
n.3392A>C
 dbSNP
2g.166272826T=CA1304962884SCN1A-AS1,SCN9Ac.2924A= (p.Asn975=)
c.2891A= (p.Asn964=)
c.1877-328A=
n.870-4262T=
c.2537A= (p.Asn846=)
c.2180A= (p.Asn727=)
n.3392A=
2g.166272827T>ACA349074873SCN1A-AS1,SCN9Ac.2923A>T (p.Asn975Tyr)
c.2890A>T (p.Asn964Tyr)
c.1877-329A>T
n.870-4261T>A
c.2536A>T (p.Asn846Tyr)
c.2179A>T (p.Asn727Tyr)
n.3391A>T
 ClinVar dbSNP gnomAD v4
2g.166272827T>CCA349074877SCN1A-AS1,SCN9Ac.2923A>G (p.Asn975Asp)
c.2890A>G (p.Asn964Asp)
c.1877-329A>G
n.870-4261T>C
c.2536A>G (p.Asn846Asp)
c.2179A>G (p.Asn727Asp)
n.3391A>G
2g.166272827T>GCA349074875SCN1A-AS1,SCN9Ac.2923A>C (p.Asn975His)
c.2890A>C (p.Asn964His)
c.1877-329A>C
n.870-4261T>G
c.2536A>C (p.Asn846His)
c.2179A>C (p.Asn727His)
n.3391A>C
2g.166272827_166272828delinsTGCA1304962885SCN1A-AS1,SCN9Ac.2922_2923delinsCA (p.Asp974=)
c.2889_2890delinsCA (p.Asp963=)
c.1877-330_1877-329delinsCA
n.870-4261_870-4260delinsTG
c.2535_2536delinsCA (p.Asp845=)
c.2178_2179delinsCA (p.Asp726=)
n.3390_3391delinsCA
2g.166272828delCA1304962886SCN1A-AS1,SCN9Ac.2922del (p.Asp974GlufsTer19)
c.2889del (p.Asp963GlufsTer19)
c.1877-330del
n.870-4260del
c.2535del (p.Asp845GlufsTer19)
c.2178del (p.Asp726GlufsTer19)
n.3390del
 dbSNP
2g.166272828G>ACA429978162SCN1A-AS1,SCN9Ac.2922C>T (p.Asp974=)
c.2889C>T (p.Asp963=)
c.1877-330C>T
n.870-4260G>A
c.2535C>T (p.Asp845=)
c.2178C>T (p.Asp726=)
n.3390C>T
2g.166272828G>CCA1944165SCN1A-AS1,SCN9Ac.2922C>G (p.Asp974Glu)
c.2889C>G (p.Asp963Glu)
c.1877-330C>G
n.870-4260G>C
c.2535C>G (p.Asp845Glu)
c.2178C>G (p.Asp726Glu)
n.3390C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272828G=CA1304962887SCN1A-AS1,SCN9Ac.2922C= (p.Asp974=)
c.2889C= (p.Asp963=)
c.1877-330C=
n.870-4260G=
c.2535C= (p.Asp845=)
c.2178C= (p.Asp726=)
n.3390C=
2g.166272828G>TCA59791845SCN1A-AS1,SCN9Ac.2922C>A (p.Asp974Glu)
c.2889C>A (p.Asp963Glu)
c.1877-330C>A
n.870-4260G>T
c.2535C>A (p.Asp845Glu)
c.2178C>A (p.Asp726Glu)
n.3390C>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166272829T>ACA349074882SCN1A-AS1,SCN9Ac.2921A>T (p.Asp974Val)
c.2888A>T (p.Asp963Val)
c.1877-331A>T
n.870-4259T>A
c.2534A>T (p.Asp845Val)
c.2177A>T (p.Asp726Val)
n.3389A>T
2g.166272829T>CCA349074884SCN1A-AS1,SCN9Ac.2921A>G (p.Asp974Gly)
c.2888A>G (p.Asp963Gly)
c.1877-331A>G
n.870-4259T>C
c.2534A>G (p.Asp845Gly)
c.2177A>G (p.Asp726Gly)
n.3389A>G
 gnomAD v4
2g.166272829T>GCA349074886SCN1A-AS1,SCN9Ac.2921A>C (p.Asp974Ala)
c.2888A>C (p.Asp963Ala)
c.1877-331A>C
n.870-4259T>G
c.2534A>C (p.Asp845Ala)
c.2177A>C (p.Asp726Ala)
n.3389A>C
2g.166272830C>ACA349074888SCN1A-AS1,SCN9Ac.2920G>T (p.Asp974Tyr)
c.2887G>T (p.Asp963Tyr)
c.1877-332G>T
n.870-4258C>A
c.2533G>T (p.Asp845Tyr)
c.2176G>T (p.Asp726Tyr)
n.3388G>T
2g.166272830C>GCA349074890SCN1A-AS1,SCN9Ac.2920G>C (p.Asp974His)
c.2887G>C (p.Asp963His)
c.1877-332G>C
n.870-4258C>G
c.2533G>C (p.Asp845His)
c.2176G>C (p.Asp726His)
n.3388G>C
2g.166272830C>TCA349074892SCN1A-AS1,SCN9Ac.2920G>A (p.Asp974Asn)
c.2887G>A (p.Asp963Asn)
c.1877-332G>A
n.870-4258C>T
c.2533G>A (p.Asp845Asn)
c.2176G>A (p.Asp726Asn)
n.3388G>A
2g.166272831T>ACA429978163SCN1A-AS1,SCN9Ac.2919A>T (p.Ser973=)
c.2886A>T (p.Ser962=)
c.1877-333A>T
n.870-4257T>A
c.2532A>T (p.Ser844=)
c.2175A>T (p.Ser725=)
n.3387A>T
2g.166272831T>CCA429978164SCN1A-AS1,SCN9Ac.2919A>G (p.Ser973=)
c.2886A>G (p.Ser962=)
c.1877-333A>G
n.870-4257T>C
c.2532A>G (p.Ser844=)
c.2175A>G (p.Ser725=)
n.3387A>G
2g.166272831T>GCA429978165SCN1A-AS1,SCN9Ac.2919A>C (p.Ser973=)
c.2886A>C (p.Ser962=)
c.1877-333A>C
n.870-4257T>G
c.2532A>C (p.Ser844=)
c.2175A>C (p.Ser725=)
n.3387A>C
2g.166272832G>ACA349074894SCN1A-AS1,SCN9Ac.2918C>T (p.Ser973Leu)
c.2885C>T (p.Ser962Leu)
c.1877-334C>T
n.870-4256G>A
c.2531C>T (p.Ser844Leu)
c.2174C>T (p.Ser725Leu)
n.3386C>T
2g.166272832G>CCA349074895SCN1A-AS1,SCN9Ac.2918C>G (p.Ser973Ter)
c.2885C>G (p.Ser962Ter)
c.1877-334C>G
n.870-4256G>C
c.2531C>G (p.Ser844Ter)
c.2174C>G (p.Ser725Ter)
n.3386C>G
2g.166272832G>TCA349074897SCN1A-AS1,SCN9Ac.2918C>A (p.Ser973Ter)
c.2885C>A (p.Ser962Ter)
c.1877-334C>A
n.870-4256G>T
c.2531C>A (p.Ser844Ter)
c.2174C>A (p.Ser725Ter)
n.3386C>A
 gnomAD v4
2g.166272833A>CCA349074900SCN1A-AS1,SCN9Ac.2917T>G (p.Ser973Ala)
c.2884T>G (p.Ser962Ala)
c.1877-335T>G
n.870-4255A>C
c.2530T>G (p.Ser844Ala)
c.2173T>G (p.Ser725Ala)
n.3385T>G
2g.166272833A>GCA349074901SCN1A-AS1,SCN9Ac.2917T>C (p.Ser973Pro)
c.2884T>C (p.Ser962Pro)
c.1877-335T>C
n.870-4255A>G
c.2530T>C (p.Ser844Pro)
c.2173T>C (p.Ser725Pro)
n.3385T>C
2g.166272833A>TCA349074903SCN1A-AS1,SCN9Ac.2917T>A (p.Ser973Thr)
c.2884T>A (p.Ser962Thr)
c.1877-335T>A
n.870-4255A>T
c.2530T>A (p.Ser844Thr)
c.2173T>A (p.Ser725Thr)
n.3385T>A
2g.166272834A=CA1304962888SCN1A-AS1,SCN9Ac.2916T= (p.Ser972=)
c.2883T= (p.Ser961=)
c.1877-336T=
n.870-4254A=
c.2529T= (p.Ser843=)
c.2172T= (p.Ser724=)
n.3384T=
2g.166272834A>CCA349074908SCN1A-AS1,SCN9Ac.2916T>G (p.Ser972Arg)
c.2883T>G (p.Ser961Arg)
c.1877-336T>G
n.870-4254A>C
c.2529T>G (p.Ser843Arg)
c.2172T>G (p.Ser724Arg)
n.3384T>G
2g.166272834A>GCA10611656SCN1A-AS1,SCN9Ac.2916T>C (p.Ser972=)
c.2883T>C (p.Ser961=)
c.1877-336T>C
n.870-4254A>G
c.2529T>C (p.Ser843=)
c.2172T>C (p.Ser724=)
n.3384T>C
 ClinVar dbSNP
2g.166272834A>TCA349074906SCN1A-AS1,SCN9Ac.2916T>A (p.Ser972Arg)
c.2883T>A (p.Ser961Arg)
c.1877-336T>A
n.870-4254A>T
c.2529T>A (p.Ser843Arg)
c.2172T>A (p.Ser724Arg)
n.3384T>A
2g.166272835C>ACA349074911SCN1A-AS1,SCN9Ac.2915G>T (p.Ser972Ile)
c.2882G>T (p.Ser961Ile)
c.1877-337G>T
n.870-4253C>A
c.2528G>T (p.Ser843Ile)
c.2171G>T (p.Ser724Ile)
n.3383G>T
2g.166272835C>GCA349074912SCN1A-AS1,SCN9Ac.2915G>C (p.Ser972Thr)
c.2882G>C (p.Ser961Thr)
c.1877-337G>C
n.870-4253C>G
c.2528G>C (p.Ser843Thr)
c.2171G>C (p.Ser724Thr)
n.3383G>C
2g.166272835C>TCA349074913SCN1A-AS1,SCN9Ac.2915G>A (p.Ser972Asn)
c.2882G>A (p.Ser961Asn)
c.1877-337G>A
n.870-4253C>T
c.2528G>A (p.Ser843Asn)
c.2171G>A (p.Ser724Asn)
n.3383G>A
 ClinVar dbSNP gnomAD v4
2g.166272836delCA2577144948SCN1A-AS1,SCN9Ac.2914del (p.Ser972ValfsTer21)
c.2881del (p.Ser961ValfsTer21)
c.1877-338del
n.870-4252del
c.2527del (p.Ser843ValfsTer21)
c.2170del (p.Ser724ValfsTer21)
n.3382del
2g.166272836T>ACA349074914SCN1A-AS1,SCN9Ac.2914A>T (p.Ser972Cys)
c.2881A>T (p.Ser961Cys)
c.1877-338A>T
n.870-4252T>A
c.2527A>T (p.Ser843Cys)
c.2170A>T (p.Ser724Cys)
n.3382A>T
2g.166272836T>CCA349074916SCN1A-AS1,SCN9Ac.2914A>G (p.Ser972Gly)
c.2881A>G (p.Ser961Gly)
c.1877-338A>G
n.870-4252T>C
c.2527A>G (p.Ser843Gly)
c.2170A>G (p.Ser724Gly)
n.3382A>G
2g.166272836T>GCA349074918SCN1A-AS1,SCN9Ac.2914A>C (p.Ser972Arg)
c.2881A>C (p.Ser961Arg)
c.1877-338A>C
n.870-4252T>G
c.2527A>C (p.Ser843Arg)
c.2170A>C (p.Ser724Arg)
n.3382A>C
2g.166272837A>CCA349074920SCN1A-AS1,SCN9Ac.2913T>G (p.Phe971Leu)
c.2880T>G (p.Phe960Leu)
c.1877-339T>G
n.870-4251A>C
c.2526T>G (p.Phe842Leu)
c.2169T>G (p.Phe723Leu)
n.3381T>G
2g.166272837A>GCA429978168SCN1A-AS1,SCN9Ac.2913T>C (p.Phe971=)
c.2880T>C (p.Phe960=)
c.1877-339T>C
n.870-4251A>G
c.2526T>C (p.Phe842=)
c.2169T>C (p.Phe723=)
n.3381T>C
2g.166272837A>TCA349074921SCN1A-AS1,SCN9Ac.2913T>A (p.Phe971Leu)
c.2880T>A (p.Phe960Leu)
c.1877-339T>A
n.870-4251A>T
c.2526T>A (p.Phe842Leu)
c.2169T>A (p.Phe723Leu)
n.3381T>A
2g.166272839delCA2661766692SCN1A-AS1,SCN9Ac.2913del (p.Phe971LeufsTer22)
c.2880del (p.Phe960LeufsTer22)
c.1877-339del
n.870-4249del
c.2526del (p.Phe842LeufsTer22)
c.2169del (p.Phe723LeufsTer22)
n.3381del
 gnomAD v4
2g.166272838A>CCA349074923SCN1A-AS1,SCN9Ac.2912T>G (p.Phe971Cys)
c.2879T>G (p.Phe960Cys)
c.1877-340T>G
n.870-4250A>C
c.2525T>G (p.Phe842Cys)
c.2168T>G (p.Phe723Cys)
n.3380T>G
2g.166272838A>GCA349074925SCN1A-AS1,SCN9Ac.2912T>C (p.Phe971Ser)
c.2879T>C (p.Phe960Ser)
c.1877-340T>C
n.870-4250A>G
c.2525T>C (p.Phe842Ser)
c.2168T>C (p.Phe723Ser)
n.3380T>C
2g.166272838A>TCA349074927SCN1A-AS1,SCN9Ac.2912T>A (p.Phe971Tyr)
c.2879T>A (p.Phe960Tyr)
c.1877-340T>A
n.870-4250A>T
c.2525T>A (p.Phe842Tyr)
c.2168T>A (p.Phe723Tyr)
n.3380T>A
2g.166272839A>CCA349074932SCN1A-AS1,SCN9Ac.2911T>G (p.Phe971Val)
c.2878T>G (p.Phe960Val)
c.1877-341T>G
n.870-4249A>C
c.2524T>G (p.Phe842Val)
c.2167T>G (p.Phe723Val)
n.3379T>G
2g.166272839A>GCA349074931SCN1A-AS1,SCN9Ac.2911T>C (p.Phe971Leu)
c.2878T>C (p.Phe960Leu)
c.1877-341T>C
n.870-4249A>G
c.2524T>C (p.Phe842Leu)
c.2167T>C (p.Phe723Leu)
n.3379T>C
2g.166272839A>TCA349074929SCN1A-AS1,SCN9Ac.2911T>A (p.Phe971Ile)
c.2878T>A (p.Phe960Ile)
c.1877-341T>A
n.870-4249A>T
c.2524T>A (p.Phe842Ile)
c.2167T>A (p.Phe723Ile)
n.3379T>A
2g.166272840T>ACA429978170SCN1A-AS1,SCN9Ac.2910A>T (p.Ser970=)
c.2877A>T (p.Ser959=)
c.1877-342A>T
n.870-4248T>A
c.2523A>T (p.Ser841=)
c.2166A>T (p.Ser722=)
n.3378A>T
2g.166272840T>CCA429978171SCN1A-AS1,SCN9Ac.2910A>G (p.Ser970=)
c.2877A>G (p.Ser959=)
c.1877-342A>G
n.870-4248T>C
c.2523A>G (p.Ser841=)
c.2166A>G (p.Ser722=)
n.3378A>G
 gnomAD v4
2g.166272840T>GCA429978172SCN1A-AS1,SCN9Ac.2910A>C (p.Ser970=)
c.2877A>C (p.Ser959=)
c.1877-342A>C
n.870-4248T>G
c.2523A>C (p.Ser841=)
c.2166A>C (p.Ser722=)
n.3378A>C
 gnomAD v4
2g.166272841G>ACA349074934SCN1A-AS1,SCN9Ac.2909C>T (p.Ser970Leu)
c.2876C>T (p.Ser959Leu)
c.1877-343C>T
n.870-4247G>A
c.2522C>T (p.Ser841Leu)
c.2165C>T (p.Ser722Leu)
n.3377C>T
 ClinVar dbSNP
2g.166272841G>CCA349074936SCN1A-AS1,SCN9Ac.2909C>G (p.Ser970Ter)
c.2876C>G (p.Ser959Ter)
c.1877-343C>G
n.870-4247G>C
c.2522C>G (p.Ser841Ter)
c.2165C>G (p.Ser722Ter)
n.3377C>G
2g.166272841G>TCA349074938SCN1A-AS1,SCN9Ac.2909C>A (p.Ser970Ter)
c.2876C>A (p.Ser959Ter)
c.1877-343C>A
n.870-4247G>T
c.2522C>A (p.Ser841Ter)
c.2165C>A (p.Ser722Ter)
n.3377C>A
2g.166272842A>CCA349074940SCN1A-AS1,SCN9Ac.2908T>G (p.Ser970Ala)
c.2875T>G (p.Ser959Ala)
c.1877-344T>G
n.870-4246A>C
c.2521T>G (p.Ser841Ala)
c.2164T>G (p.Ser722Ala)
n.3376T>G
2g.166272842A>GCA349074942SCN1A-AS1,SCN9Ac.2908T>C (p.Ser970Pro)
c.2875T>C (p.Ser959Pro)
c.1877-344T>C
n.870-4246A>G
c.2521T>C (p.Ser841Pro)
c.2164T>C (p.Ser722Pro)
n.3376T>C
2g.166272842A>TCA349074943SCN1A-AS1,SCN9Ac.2908T>A (p.Ser970Thr)
c.2875T>A (p.Ser959Thr)
c.1877-344T>A
n.870-4246A>T
c.2521T>A (p.Ser841Thr)
c.2164T>A (p.Ser722Thr)
n.3376T>A
2g.166272843G>ACA429978173SCN1A-AS1,SCN9Ac.2907C>T (p.Ser969=)
c.2874C>T (p.Ser958=)
c.1877-345C>T
n.870-4245G>A
c.2520C>T (p.Ser840=)
c.2163C>T (p.Ser721=)
n.3375C>T
2g.166272843G>CCA349074946SCN1A-AS1,SCN9Ac.2907C>G (p.Ser969Arg)
c.2874C>G (p.Ser958Arg)
c.1877-345C>G
n.870-4245G>C
c.2520C>G (p.Ser840Arg)
c.2163C>G (p.Ser721Arg)
n.3375C>G
 gnomAD v4
2g.166272843G>TCA349074948SCN1A-AS1,SCN9Ac.2907C>A (p.Ser969Arg)
c.2874C>A (p.Ser958Arg)
c.1877-345C>A
n.870-4245G>T
c.2520C>A (p.Ser840Arg)
c.2163C>A (p.Ser721Arg)
n.3375C>A
2g.166272844C>ACA349074949SCN1A-AS1,SCN9Ac.2906G>T (p.Ser969Ile)
c.2873G>T (p.Ser958Ile)
c.1877-346G>T
n.870-4244C>A
c.2519G>T (p.Ser840Ile)
c.2162G>T (p.Ser721Ile)
n.3374G>T
2g.166272844C=CA1304962889SCN1A-AS1,SCN9Ac.2906G= (p.Ser969=)
c.2873G= (p.Ser958=)
c.1877-346G=
n.870-4244C=
c.2519G= (p.Ser840=)
c.2162G= (p.Ser721=)
n.3374G=
2g.166272844C>GCA349074950SCN1A-AS1,SCN9Ac.2906G>C (p.Ser969Thr)
c.2873G>C (p.Ser958Thr)
c.1877-346G>C
n.870-4244C>G
c.2519G>C (p.Ser840Thr)
c.2162G>C (p.Ser721Thr)
n.3374G>C
 ClinVar dbSNP gnomAD v4
2g.166272844C>TCA349074953SCN1A-AS1,SCN9Ac.2906G>A (p.Ser969Asn)
c.2873G>A (p.Ser958Asn)
c.1877-346G>A
n.870-4244C>T
c.2519G>A (p.Ser840Asn)
c.2162G>A (p.Ser721Asn)
n.3374G>A
2g.166272845T>ACA349074955SCN1A-AS1,SCN9Ac.2905A>T (p.Ser969Cys)
c.2872A>T (p.Ser958Cys)
c.1877-347A>T
n.870-4243T>A
c.2518A>T (p.Ser840Cys)
c.2161A>T (p.Ser721Cys)
n.3373A>T
2g.166272845T>CCA349074957SCN1A-AS1,SCN9Ac.2905A>G (p.Ser969Gly)
c.2872A>G (p.Ser958Gly)
c.1877-347A>G
n.870-4243T>C
c.2518A>G (p.Ser840Gly)
c.2161A>G (p.Ser721Gly)
n.3373A>G
2g.166272845T>GCA349074959SCN1A-AS1,SCN9Ac.2905A>C (p.Ser969Arg)
c.2872A>C (p.Ser958Arg)
c.1877-347A>C
n.870-4243T>G
c.2518A>C (p.Ser840Arg)
c.2161A>C (p.Ser721Arg)
n.3373A>C
2g.166272846C>ACA1944166SCN1A-AS1,SCN9Ac.2904G>T (p.Leu968Phe)
c.2871G>T (p.Leu957Phe)
c.1877-348G>T
n.870-4242C>A
c.2517G>T (p.Leu839Phe)
c.2160G>T (p.Leu720Phe)
n.3372G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.166272846C=CA1304962890SCN1A-AS1,SCN9Ac.2904G= (p.Leu968=)
c.2871G= (p.Leu957=)
c.1877-348G=
n.870-4242C=
c.2517G= (p.Leu839=)
c.2160G= (p.Leu720=)
n.3372G=
2g.166272846C>GCA349074961SCN1A-AS1,SCN9Ac.2904G>C (p.Leu968Phe)
c.2871G>C (p.Leu957Phe)
c.1877-348G>C
n.870-4242C>G
c.2517G>C (p.Leu839Phe)
c.2160G>C (p.Leu720Phe)
n.3372G>C
2g.166272846C>TCA429978174SCN1A-AS1,SCN9Ac.2904G>A (p.Leu968=)
c.2871G>A (p.Leu957=)
c.1877-348G>A
n.870-4242C>T
c.2517G>A (p.Leu839=)
c.2160G>A (p.Leu720=)
n.3372G>A
2g.166272847A=CA1304962891SCN1A-AS1,SCN9Ac.2903T= (p.Leu968=)
c.2870T= (p.Leu957=)
c.1877-349T=
n.870-4241A=
c.2516T= (p.Leu839=)
c.2159T= (p.Leu720=)
n.3371T=
2g.166272847A>CCA349074963SCN1A-AS1,SCN9Ac.2903T>G (p.Leu968Trp)
c.2870T>G (p.Leu957Trp)
c.1877-349T>G
n.870-4241A>C
c.2516T>G (p.Leu839Trp)
c.2159T>G (p.Leu720Trp)
n.3371T>G
2g.166272847A>GCA349074965SCN1A-AS1,SCN9Ac.2903T>C (p.Leu968Ser)
c.2870T>C (p.Leu957Ser)
c.1877-349T>C
n.870-4241A>G
c.2516T>C (p.Leu839Ser)
c.2159T>C (p.Leu720Ser)
n.3371T>C
 ClinVar dbSNP
2g.166272847A>TCA349074967SCN1A-AS1,SCN9Ac.2903T>A (p.Leu968Ter)
c.2870T>A (p.Leu957Ter)
c.1877-349T>A
n.870-4241A>T
c.2516T>A (p.Leu839Ter)
c.2159T>A (p.Leu720Ter)
n.3371T>A
 dbSNP
2g.166272852_166272854delCA2586970693SCN1A-AS1,SCN9Ac.2901_2903del (p.Leu968del)
c.2868_2870del (p.Leu957del)
c.1877-351_1877-349del
n.870-4236_870-4234del
c.2514_2516del (p.Leu839del)
c.2157_2159del (p.Leu720del)
n.3369_3371del

Number of alleles fetched