Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166242475T>ACA1304945543SCN1A-AS1,SCN9Ac.3627+27A>T (n.3627+27A>T)
c.3594+27A>T (n.3594+27A>T)
n.612-5720T>A
c.3240+27A>T (n.3240+27A>T)
c.2883+27A>T (n.2883+27A>T)
 dbSNP
2g.166242475T>CCA2661765984SCN1A-AS1,SCN9Ac.3627+27A>G (n.3627+27A>G)
c.3594+27A>G (n.3594+27A>G)
n.612-5720T>C
c.3240+27A>G (n.3240+27A>G)
c.2883+27A>G (n.2883+27A>G)
 gnomAD v4
2g.166242475T=CA1304945542SCN1A-AS1,SCN9Ac.3627+27A= (n.3627+27A=)
c.3594+27A= (n.3594+27A=)
n.612-5720T=
c.3240+27A= (n.3240+27A=)
c.2883+27A= (n.2883+27A=)
2g.166242477T>CCA59814590SCN1A-AS1,SCN9Ac.3627+25A>G (n.3627+25A>G)
c.3594+25A>G (n.3594+25A>G)
n.612-5718T>C
c.3240+25A>G (n.3240+25A>G)
c.2883+25A>G (n.2883+25A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242477T=CA1304945545SCN1A-AS1,SCN9Ac.3627+25A= (n.3627+25A=)
c.3594+25A= (n.3594+25A=)
n.612-5718T=
c.3240+25A= (n.3240+25A=)
c.2883+25A= (n.2883+25A=)
2g.166242478T>CCA2661765985SCN1A-AS1,SCN9Ac.3627+24A>G (n.3627+24A>G)
c.3594+24A>G (n.3594+24A>G)
n.612-5717T>C
c.3240+24A>G (n.3240+24A>G)
c.2883+24A>G (n.2883+24A>G)
 gnomAD v4
2g.166242479G>ACA2661765986SCN1A-AS1,SCN9Ac.3627+23C>T (n.3627+23C>T)
c.3594+23C>T (n.3594+23C>T)
n.612-5716G>A
c.3240+23C>T (n.3240+23C>T)
c.2883+23C>T (n.2883+23C>T)
 gnomAD v4
2g.166242479G>TCA2661765987SCN1A-AS1,SCN9Ac.3627+23C>A (n.3627+23C>A)
c.3594+23C>A (n.3594+23C>A)
n.612-5716G>T
c.3240+23C>A (n.3240+23C>A)
c.2883+23C>A (n.2883+23C>A)
 gnomAD v4
2g.166242480A>GCA2661765988SCN1A-AS1,SCN9Ac.3627+22T>C (n.3627+22T>C)
c.3594+22T>C (n.3594+22T>C)
n.612-5715A>G
c.3240+22T>C (n.3240+22T>C)
c.2883+22T>C (n.2883+22T>C)
 gnomAD v4
2g.166242480A>TCA2661765989SCN1A-AS1,SCN9Ac.3627+22T>A (n.3627+22T>A)
c.3594+22T>A (n.3594+22T>A)
n.612-5715A>T
c.3240+22T>A (n.3240+22T>A)
c.2883+22T>A (n.2883+22T>A)
 gnomAD v4
2g.166242481C>ACA2661765990SCN1A-AS1,SCN9Ac.3627+21G>T (n.3627+21G>T)
c.3594+21G>T (n.3594+21G>T)
n.612-5714C>A
c.3240+21G>T (n.3240+21G>T)
c.2883+21G>T (n.2883+21G>T)
 gnomAD v4
2g.166242481C=CA1304945546SCN1A-AS1,SCN9Ac.3627+21G= (n.3627+21G=)
c.3594+21G= (n.3594+21G=)
n.612-5714C=
c.3240+21G= (n.3240+21G=)
c.2883+21G= (n.2883+21G=)
2g.166242481C>TCA59814592SCN1A-AS1,SCN9Ac.3627+21G>A (n.3627+21G>A)
c.3594+21G>A (n.3594+21G>A)
n.612-5714C>T
c.3240+21G>A (n.3240+21G>A)
c.2883+21G>A (n.2883+21G>A)
 dbSNP
2g.166242482T>ACA2661765991SCN1A-AS1,SCN9Ac.3627+20A>T (n.3627+20A>T)
c.3594+20A>T (n.3594+20A>T)
n.612-5713T>A
c.3240+20A>T (n.3240+20A>T)
c.2883+20A>T (n.2883+20A>T)
 gnomAD v4
2g.166242482T>CCA2661765992SCN1A-AS1,SCN9Ac.3627+20A>G (n.3627+20A>G)
c.3594+20A>G (n.3594+20A>G)
n.612-5713T>C
c.3240+20A>G (n.3240+20A>G)
c.2883+20A>G (n.2883+20A>G)
 gnomAD v4
2g.166242483T>CCA2661765993SCN1A-AS1,SCN9Ac.3627+19A>G (n.3627+19A>G)
c.3594+19A>G (n.3594+19A>G)
n.612-5712T>C
c.3240+19A>G (n.3240+19A>G)
c.2883+19A>G (n.2883+19A>G)
 gnomAD v4
2g.166242483T>GCA2661765994SCN1A-AS1,SCN9Ac.3627+19A>C (n.3627+19A>C)
c.3594+19A>C (n.3594+19A>C)
n.612-5712T>G
c.3240+19A>C (n.3240+19A>C)
c.2883+19A>C (n.2883+19A>C)
 gnomAD v4
2g.166242484A>GCA2661765995SCN1A-AS1,SCN9Ac.3627+18T>C (n.3627+18T>C)
c.3594+18T>C (n.3594+18T>C)
n.612-5711A>G
c.3240+18T>C (n.3240+18T>C)
c.2883+18T>C (n.2883+18T>C)
 gnomAD v4
2g.166242484A>TCA2661765996SCN1A-AS1,SCN9Ac.3627+18T>A (n.3627+18T>A)
c.3594+18T>A (n.3594+18T>A)
n.612-5711A>T
c.3240+18T>A (n.3240+18T>A)
c.2883+18T>A (n.2883+18T>A)
 gnomAD v4
2g.166242485G>ACA2753023256SCN1A-AS1,SCN9Ac.3627+17C>T (n.3627+17C>T)
c.3594+17C>T (n.3594+17C>T)
n.612-5710G>A
c.3240+17C>T (n.3240+17C>T)
c.2883+17C>T (n.2883+17C>T)
2g.166242485G=CA1304945548SCN1A-AS1,SCN9Ac.3627+17C= (n.3627+17C=)
c.3594+17C= (n.3594+17C=)
n.612-5710G=
c.3240+17C= (n.3240+17C=)
c.2883+17C= (n.2883+17C=)
2g.166242485G>TCA1944024SCN1A-AS1,SCN9Ac.3627+17C>A (n.3627+17C>A)
c.3594+17C>A (n.3594+17C>A)
n.612-5710G>T
c.3240+17C>A (n.3240+17C>A)
c.2883+17C>A (n.2883+17C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166242486G>ACA1304945550SCN1A-AS1,SCN9Ac.3627+16C>T (n.3627+16C>T)
c.3594+16C>T (n.3594+16C>T)
n.612-5709G>A
c.3240+16C>T (n.3240+16C>T)
c.2883+16C>T (n.2883+16C>T)
 dbSNP gnomAD v4
2g.166242486G=CA1304945549SCN1A-AS1,SCN9Ac.3627+16C= (n.3627+16C=)
c.3594+16C= (n.3594+16C=)
n.612-5709G=
c.3240+16C= (n.3240+16C=)
c.2883+16C= (n.2883+16C=)
2g.166242486G>TCA2661765997SCN1A-AS1,SCN9Ac.3627+16C>A (n.3627+16C>A)
c.3594+16C>A (n.3594+16C>A)
n.612-5709G>T
c.3240+16C>A (n.3240+16C>A)
c.2883+16C>A (n.2883+16C>A)
 gnomAD v4
2g.166242487T>CCA2577144903SCN1A-AS1,SCN9Ac.3627+15A>G (n.3627+15A>G)
c.3594+15A>G (n.3594+15A>G)
n.612-5708T>C
c.3240+15A>G (n.3240+15A>G)
c.2883+15A>G (n.2883+15A>G)
 gnomAD v4
2g.166242488G>TCA2661765998SCN1A-AS1,SCN9Ac.3627+14C>A (n.3627+14C>A)
c.3594+14C>A (n.3594+14C>A)
n.612-5707G>T
c.3240+14C>A (n.3240+14C>A)
c.2883+14C>A (n.2883+14C>A)
 gnomAD v4
2g.166242489T>CCA2661765999SCN1A-AS1,SCN9Ac.3627+13A>G (n.3627+13A>G)
c.3594+13A>G (n.3594+13A>G)
n.612-5706T>C
c.3240+13A>G (n.3240+13A>G)
c.2883+13A>G (n.2883+13A>G)
 gnomAD v4
2g.166242489T>GCA2661766000SCN1A-AS1,SCN9Ac.3627+13A>C (n.3627+13A>C)
c.3594+13A>C (n.3594+13A>C)
n.612-5706T>G
c.3240+13A>C (n.3240+13A>C)
c.2883+13A>C (n.2883+13A>C)
 gnomAD v4
2g.166242490C>ACA2661766001SCN1A-AS1,SCN9Ac.3627+12G>T (n.3627+12G>T)
c.3594+12G>T (n.3594+12G>T)
n.612-5705C>A
c.3240+12G>T (n.3240+12G>T)
c.2883+12G>T (n.2883+12G>T)
 gnomAD v4
2g.166242491A>TCA2661766002SCN1A-AS1,SCN9Ac.3627+11T>A (n.3627+11T>A)
c.3594+11T>A (n.3594+11T>A)
n.612-5704A>T
c.3240+11T>A (n.3240+11T>A)
c.2883+11T>A (n.2883+11T>A)
 gnomAD v4
2g.166242492G>ACA2661766004SCN1A-AS1,SCN9Ac.3627+10C>T (n.3627+10C>T)
c.3594+10C>T (n.3594+10C>T)
n.612-5703G>A
c.3240+10C>T (n.3240+10C>T)
c.2883+10C>T (n.2883+10C>T)
 gnomAD v4
2g.166242492G>CCA2580064322SCN1A-AS1,SCN9Ac.3627+10C>G (n.3627+10C>G)
c.3594+10C>G (n.3594+10C>G)
n.612-5703G>C
c.3240+10C>G (n.3240+10C>G)
c.2883+10C>G (n.2883+10C>G)
 ClinVar gnomAD v4
2g.166242493A=CA1304945552SCN1A-AS1,SCN9Ac.3627+9T= (n.3627+9T=)
c.3594+9T= (n.3594+9T=)
n.612-5702A=
c.3240+9T= (n.3240+9T=)
c.2883+9T= (n.2883+9T=)
2g.166242493A>GCA2661766009SCN1A-AS1,SCN9Ac.3627+9T>C (n.3627+9T>C)
c.3594+9T>C (n.3594+9T>C)
n.612-5702A>G
c.3240+9T>C (n.3240+9T>C)
c.2883+9T>C (n.2883+9T>C)
 gnomAD v4
2g.166242493A>TCA1038854992SCN1A-AS1,SCN9Ac.3627+9T>A (n.3627+9T>A)
c.3594+9T>A (n.3594+9T>A)
n.612-5702A>T
c.3240+9T>A (n.3240+9T>A)
c.2883+9T>A (n.2883+9T>A)
 dbSNP gnomAD v3 gnomAD v4
2g.166242494T>ACA658653753SCN1A-AS1,SCN9Ac.3627+8A>T (n.3627+8A>T)
c.3594+8A>T (n.3594+8A>T)
n.612-5701T>A
c.3240+8A>T (n.3240+8A>T)
c.2883+8A>T (n.2883+8A>T)
 ClinVar dbSNP gnomAD v4
2g.166242494T>CCA2573133526SCN1A-AS1,SCN9Ac.3627+8A>G (n.3627+8A>G)
c.3594+8A>G (n.3594+8A>G)
n.612-5701T>C
c.3240+8A>G (n.3240+8A>G)
c.2883+8A>G (n.2883+8A>G)
 ClinVar dbSNP
2g.166242494T=CA1304945557SCN1A-AS1,SCN9Ac.3627+8A= (n.3627+8A=)
c.3594+8A= (n.3594+8A=)
n.612-5701T=
c.3240+8A= (n.3240+8A=)
c.2883+8A= (n.2883+8A=)
2g.166242495C>ACA2661766022SCN1A-AS1,SCN9Ac.3627+7G>T (n.3627+7G>T)
c.3594+7G>T (n.3594+7G>T)
n.612-5700C>A
c.3240+7G>T (n.3240+7G>T)
c.2883+7G>T (n.2883+7G>T)
 gnomAD v4
2g.166242495C=CA1304945560SCN1A-AS1,SCN9Ac.3627+7G= (n.3627+7G=)
c.3594+7G= (n.3594+7G=)
n.612-5700C=
c.3240+7G= (n.3240+7G=)
c.2883+7G= (n.2883+7G=)
2g.166242495C>GCA537511933SCN1A-AS1,SCN9Ac.3627+7G>C (n.3627+7G>C)
c.3594+7G>C (n.3594+7G>C)
n.612-5700C>G
c.3240+7G>C (n.3240+7G>C)
c.2883+7G>C (n.2883+7G>C)
 dbSNP gnomAD v2 gnomAD v4
2g.166242496A>GCA2661766028SCN1A-AS1,SCN9Ac.3627+6T>C (n.3627+6T>C)
c.3594+6T>C (n.3594+6T>C)
n.612-5699A>G
c.3240+6T>C (n.3240+6T>C)
c.2883+6T>C (n.2883+6T>C)
 gnomAD v4
2g.166242496A>TCA2661766029SCN1A-AS1,SCN9Ac.3627+6T>A (n.3627+6T>A)
c.3594+6T>A (n.3594+6T>A)
n.612-5699A>T
c.3240+6T>A (n.3240+6T>A)
c.2883+6T>A (n.2883+6T>A)
 gnomAD v4
2g.166242499delCA2661766031SCN1A-AS1,SCN9Ac.3627+5del (n.3627+5del)
c.3594+5del (n.3594+5del)
n.612-5696del
c.3240+5del (n.3240+5del)
c.2883+5del (n.2883+5del)
 gnomAD v4
2g.166242498T>CCA2661766033SCN1A-AS1,SCN9Ac.3627+4A>G (n.3627+4A>G)
c.3594+4A>G (n.3594+4A>G)
n.612-5697T>C
c.3240+4A>G (n.3240+4A>G)
c.2883+4A>G (n.2883+4A>G)
 gnomAD v4
2g.166242499T>CCA2661766036SCN1A-AS1,SCN9Ac.3627+3A>G (n.3627+3A>G)
c.3594+3A>G (n.3594+3A>G)
n.612-5696T>C
c.3240+3A>G (n.3240+3A>G)
c.2883+3A>G (n.2883+3A>G)
 gnomAD v4
2g.166242499T>GCA537511934SCN1A-AS1,SCN9Ac.3627+3A>C (n.3627+3A>C)
c.3594+3A>C (n.3594+3A>C)
n.612-5696T>G
c.3240+3A>C (n.3240+3A>C)
c.2883+3A>C (n.2883+3A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242499T=CA1304945562SCN1A-AS1,SCN9Ac.3627+3A= (n.3627+3A=)
c.3594+3A= (n.3594+3A=)
n.612-5696T=
c.3240+3A= (n.3240+3A=)
c.2883+3A= (n.2883+3A=)
2g.166242500A>CCA349069986SCN1A-AS1,SCN9Ac.3627+2T>G (n.3627+2T>G)
c.3594+2T>G (n.3594+2T>G)
n.612-5695A>C
c.3240+2T>G (n.3240+2T>G)
c.2883+2T>G (n.2883+2T>G)
2g.166242500A>GCA349069988SCN1A-AS1,SCN9Ac.3627+2T>C (n.3627+2T>C)
c.3594+2T>C (n.3594+2T>C)
n.612-5695A>G
c.3240+2T>C (n.3240+2T>C)
c.2883+2T>C (n.2883+2T>C)
2g.166242500A>TCA349069991SCN1A-AS1,SCN9Ac.3627+2T>A (n.3627+2T>A)
c.3594+2T>A (n.3594+2T>A)
n.612-5695A>T
c.3240+2T>A (n.3240+2T>A)
c.2883+2T>A (n.2883+2T>A)
2g.166242501C>ACA349069995SCN1A-AS1,SCN9Ac.3627+1G>T (n.3627+1G>T)
c.3594+1G>T (n.3594+1G>T)
n.612-5694C>A
c.3240+1G>T (n.3240+1G>T)
c.2883+1G>T (n.2883+1G>T)
 gnomAD v4
2g.166242501C>GCA349070001SCN1A-AS1,SCN9Ac.3627+1G>C (n.3627+1G>C)
c.3594+1G>C (n.3594+1G>C)
n.612-5694C>G
c.3240+1G>C (n.3240+1G>C)
c.2883+1G>C (n.2883+1G>C)
2g.166242501C>TCA349069997SCN1A-AS1,SCN9Ac.3627+1G>A (n.3627+1G>A)
c.3594+1G>A (n.3594+1G>A)
n.612-5694C>T
c.3240+1G>A (n.3240+1G>A)
c.2883+1G>A (n.2883+1G>A)
 gnomAD v4
2g.166242502C>ACA429901238SCN1A-AS1,SCN9Ac.3627G>T (p.Leu1209=)
c.3594G>T (p.Leu1198=)
n.612-5693C>A
c.3240G>T (p.Leu1080=)
c.2883G>T (p.Leu961=)
 dbSNP gnomAD v3 gnomAD v4
2g.166242502C=CA1304945564SCN1A-AS1,SCN9Ac.3627G= (p.Leu1209=)
c.3594G= (p.Leu1198=)
n.612-5693C=
c.3240G= (p.Leu1080=)
c.2883G= (p.Leu961=)
2g.166242502C>GCA429901241SCN1A-AS1,SCN9Ac.3627G>C (p.Leu1209=)
c.3594G>C (p.Leu1198=)
n.612-5693C>G
c.3240G>C (p.Leu1080=)
c.2883G>C (p.Leu961=)
2g.166242502C>TCA429901239SCN1A-AS1,SCN9Ac.3627G>A (p.Leu1209=)
c.3594G>A (p.Leu1198=)
n.612-5693C>T
c.3240G>A (p.Leu1080=)
c.2883G>A (p.Leu961=)
 gnomAD v4
2g.166242503A>CCA349070005SCN1A-AS1,SCN9Ac.3626T>G (p.Leu1209Arg)
c.3593T>G (p.Leu1198Arg)
n.612-5692A>C
c.3239T>G (p.Leu1080Arg)
c.2882T>G (p.Leu961Arg)
2g.166242503A>GCA349070006SCN1A-AS1,SCN9Ac.3626T>C (p.Leu1209Pro)
c.3593T>C (p.Leu1198Pro)
n.612-5692A>G
c.3239T>C (p.Leu1080Pro)
c.2882T>C (p.Leu961Pro)
 gnomAD v4
2g.166242503A>TCA349070009SCN1A-AS1,SCN9Ac.3626T>A (p.Leu1209Gln)
c.3593T>A (p.Leu1198Gln)
n.612-5692A>T
c.3239T>A (p.Leu1080Gln)
c.2882T>A (p.Leu961Gln)
2g.166242504G>ACA429901243SCN1A-AS1,SCN9Ac.3625C>T (p.Leu1209=)
c.3592C>T (p.Leu1198=)
n.612-5691G>A
c.3238C>T (p.Leu1080=)
c.2881C>T (p.Leu961=)
 gnomAD v4
2g.166242504G>CCA349070016SCN1A-AS1,SCN9Ac.3625C>G (p.Leu1209Val)
c.3592C>G (p.Leu1198Val)
n.612-5691G>C
c.3238C>G (p.Leu1080Val)
c.2881C>G (p.Leu961Val)
2g.166242504G>TCA349070018SCN1A-AS1,SCN9Ac.3625C>A (p.Leu1209Met)
c.3592C>A (p.Leu1198Met)
n.612-5691G>T
c.3238C>A (p.Leu1080Met)
c.2881C>A (p.Leu961Met)
 gnomAD v4
2g.166242505G>ACA429901245SCN1A-AS1,SCN9Ac.3624C>T (p.Ala1208=)
c.3591C>T (p.Ala1197=)
n.612-5690G>A
c.3237C>T (p.Ala1079=)
c.2880C>T (p.Ala960=)
 gnomAD v4
2g.166242505G>CCA429901248SCN1A-AS1,SCN9Ac.3624C>G (p.Ala1208=)
c.3591C>G (p.Ala1197=)
n.612-5690G>C
c.3237C>G (p.Ala1079=)
c.2880C>G (p.Ala960=)
2g.166242505G>TCA429901249SCN1A-AS1,SCN9Ac.3624C>A (p.Ala1208=)
c.3591C>A (p.Ala1197=)
n.612-5690G>T
c.3237C>A (p.Ala1079=)
c.2880C>A (p.Ala960=)
 gnomAD v4
2g.166242506G>ACA349070020SCN1A-AS1,SCN9Ac.3623C>T (p.Ala1208Val)
c.3590C>T (p.Ala1197Val)
n.612-5689G>A
c.3236C>T (p.Ala1079Val)
c.2879C>T (p.Ala960Val)
 gnomAD v4
2g.166242506G>CCA349070021SCN1A-AS1,SCN9Ac.3623C>G (p.Ala1208Gly)
c.3590C>G (p.Ala1197Gly)
n.612-5689G>C
c.3236C>G (p.Ala1079Gly)
c.2879C>G (p.Ala960Gly)
2g.166242506G>TCA349070022SCN1A-AS1,SCN9Ac.3623C>A (p.Ala1208Asp)
c.3590C>A (p.Ala1197Asp)
n.612-5689G>T
c.3236C>A (p.Ala1079Asp)
c.2879C>A (p.Ala960Asp)
 gnomAD v4
2g.166242507C>ACA349070023SCN1A-AS1,SCN9Ac.3622G>T (p.Ala1208Ser)
c.3589G>T (p.Ala1197Ser)
n.612-5688C>A
c.3235G>T (p.Ala1079Ser)
c.2878G>T (p.Ala960Ser)
 gnomAD v4
2g.166242507C>GCA349070024SCN1A-AS1,SCN9Ac.3622G>C (p.Ala1208Pro)
c.3589G>C (p.Ala1197Pro)
n.612-5688C>G
c.3235G>C (p.Ala1079Pro)
c.2878G>C (p.Ala960Pro)
2g.166242507C>TCA349070025SCN1A-AS1,SCN9Ac.3622G>A (p.Ala1208Thr)
c.3589G>A (p.Ala1197Thr)
n.612-5688C>T
c.3235G>A (p.Ala1079Thr)
c.2878G>A (p.Ala960Thr)
 gnomAD v4
2g.166242508A=CA1304945566SCN1A-AS1,SCN9Ac.3621T= (p.Gly1207=)
c.3588T= (p.Gly1196=)
n.612-5687A=
c.3234T= (p.Gly1078=)
c.2877T= (p.Gly959=)
2g.166242508A>CCA429901252SCN1A-AS1,SCN9Ac.3621T>G (p.Gly1207=)
c.3588T>G (p.Gly1196=)
n.612-5687A>C
c.3234T>G (p.Gly1078=)
c.2877T>G (p.Gly959=)
2g.166242508A>GCA429901253SCN1A-AS1,SCN9Ac.3621T>C (p.Gly1207=)
c.3588T>C (p.Gly1196=)
n.612-5687A>G
c.3234T>C (p.Gly1078=)
c.2877T>C (p.Gly959=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166242508A>TCA429901254SCN1A-AS1,SCN9Ac.3621T>A (p.Gly1207=)
c.3588T>A (p.Gly1196=)
n.612-5687A>T
c.3234T>A (p.Gly1078=)
c.2877T>A (p.Gly959=)
 gnomAD v4
2g.166242509C>ACA349070028SCN1A-AS1,SCN9Ac.3620G>T (p.Gly1207Val)
c.3587G>T (p.Gly1196Val)
n.612-5686C>A
c.3233G>T (p.Gly1078Val)
c.2876G>T (p.Gly959Val)
2g.166242509C>GCA349070029SCN1A-AS1,SCN9Ac.3620G>C (p.Gly1207Ala)
c.3587G>C (p.Gly1196Ala)
n.612-5686C>G
c.3233G>C (p.Gly1078Ala)
c.2876G>C (p.Gly959Ala)
2g.166242509C>TCA349070027SCN1A-AS1,SCN9Ac.3620G>A (p.Gly1207Asp)
c.3587G>A (p.Gly1196Asp)
n.612-5686C>T
c.3233G>A (p.Gly1078Asp)
c.2876G>A (p.Gly959Asp)
 ClinVar gnomAD v4
2g.166242510C>ACA349070033SCN1A-AS1,SCN9Ac.3619G>T (p.Gly1207Cys)
c.3586G>T (p.Gly1196Cys)
n.612-5685C>A
c.3232G>T (p.Gly1078Cys)
c.2875G>T (p.Gly959Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242510C=CA1304945568SCN1A-AS1,SCN9Ac.3619G= (p.Gly1207=)
c.3586G= (p.Gly1196=)
n.612-5685C=
c.3232G= (p.Gly1078=)
c.2875G= (p.Gly959=)
2g.166242510C>GCA349070031SCN1A-AS1,SCN9Ac.3619G>C (p.Gly1207Arg)
c.3586G>C (p.Gly1196Arg)
n.612-5685C>G
c.3232G>C (p.Gly1078Arg)
c.2875G>C (p.Gly959Arg)
2g.166242510C>TCA1944025SCN1A-AS1,SCN9Ac.3619G>A (p.Gly1207Ser)
c.3586G>A (p.Gly1196Ser)
n.612-5685C>T
c.3232G>A (p.Gly1078Ser)
c.2875G>A (p.Gly959Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166242511A>CCA349070035SCN1A-AS1,SCN9Ac.3618T>G (p.Ser1206Arg)
c.3585T>G (p.Ser1195Arg)
n.612-5684A>C
c.3231T>G (p.Ser1077Arg)
c.2874T>G (p.Ser958Arg)
2g.166242511A>GCA429901261SCN1A-AS1,SCN9Ac.3618T>C (p.Ser1206=)
c.3585T>C (p.Ser1195=)
n.612-5684A>G
c.3231T>C (p.Ser1077=)
c.2874T>C (p.Ser958=)
2g.166242511A>TCA349070037SCN1A-AS1,SCN9Ac.3618T>A (p.Ser1206Arg)
c.3585T>A (p.Ser1195Arg)
n.612-5684A>T
c.3231T>A (p.Ser1077Arg)
c.2874T>A (p.Ser958Arg)
 gnomAD v4
2g.166242512C>ACA349070040SCN1A-AS1,SCN9Ac.3617G>T (p.Ser1206Ile)
c.3584G>T (p.Ser1195Ile)
n.612-5683C>A
c.3230G>T (p.Ser1077Ile)
c.2873G>T (p.Ser958Ile)
 gnomAD v4
2g.166242512C=CA1304945572SCN1A-AS1,SCN9Ac.3617G= (p.Ser1206=)
c.3584G= (p.Ser1195=)
n.612-5683C=
c.3230G= (p.Ser1077=)
c.2873G= (p.Ser958=)
2g.166242512C>GCA349070041SCN1A-AS1,SCN9Ac.3617G>C (p.Ser1206Thr)
c.3584G>C (p.Ser1195Thr)
n.612-5683C>G
c.3230G>C (p.Ser1077Thr)
c.2873G>C (p.Ser958Thr)
 dbSNP
2g.166242512C>TCA349070042SCN1A-AS1,SCN9Ac.3617G>A (p.Ser1206Asn)
c.3584G>A (p.Ser1195Asn)
n.612-5683C>T
c.3230G>A (p.Ser1077Asn)
c.2873G>A (p.Ser958Asn)
 ClinVar dbSNP gnomAD v4
2g.166242513T>ACA349070044SCN1A-AS1,SCN9Ac.3616A>T (p.Ser1206Cys)
c.3583A>T (p.Ser1195Cys)
n.612-5682T>A
c.3229A>T (p.Ser1077Cys)
c.2872A>T (p.Ser958Cys)
 gnomAD v4
2g.166242513T>CCA349070046SCN1A-AS1,SCN9Ac.3616A>G (p.Ser1206Gly)
c.3583A>G (p.Ser1195Gly)
n.612-5682T>C
c.3229A>G (p.Ser1077Gly)
c.2872A>G (p.Ser958Gly)
2g.166242513T>GCA349070047SCN1A-AS1,SCN9Ac.3616A>C (p.Ser1206Arg)
c.3583A>C (p.Ser1195Arg)
n.612-5682T>G
c.3229A>C (p.Ser1077Arg)
c.2872A>C (p.Ser958Arg)
2g.166242514G>ACA429901264SCN1A-AS1,SCN9Ac.3615C>T (p.Ser1205=)
c.3582C>T (p.Ser1194=)
n.612-5681G>A
c.3228C>T (p.Ser1076=)
c.2871C>T (p.Ser957=)
 gnomAD v4
2g.166242514G>CCA349070049SCN1A-AS1,SCN9Ac.3615C>G (p.Ser1205Arg)
c.3582C>G (p.Ser1194Arg)
n.612-5681G>C
c.3228C>G (p.Ser1076Arg)
c.2871C>G (p.Ser957Arg)
2g.166242514G>TCA349070052SCN1A-AS1,SCN9Ac.3615C>A (p.Ser1205Arg)
c.3582C>A (p.Ser1194Arg)
n.612-5681G>T
c.3228C>A (p.Ser1076Arg)
c.2871C>A (p.Ser957Arg)
 gnomAD v4
2g.166242515C>ACA349070053SCN1A-AS1,SCN9Ac.3614G>T (p.Ser1205Ile)
c.3581G>T (p.Ser1194Ile)
n.612-5680C>A
c.3227G>T (p.Ser1076Ile)
c.2870G>T (p.Ser957Ile)
 gnomAD v4
2g.166242515C>GCA349070054SCN1A-AS1,SCN9Ac.3614G>C (p.Ser1205Thr)
c.3581G>C (p.Ser1194Thr)
n.612-5680C>G
c.3227G>C (p.Ser1076Thr)
c.2870G>C (p.Ser957Thr)
2g.166242515C>TCA349070055SCN1A-AS1,SCN9Ac.3614G>A (p.Ser1205Asn)
c.3581G>A (p.Ser1194Asn)
n.612-5680C>T
c.3227G>A (p.Ser1076Asn)
c.2870G>A (p.Ser957Asn)
 gnomAD v4
2g.166242516T>ACA349070059SCN1A-AS1,SCN9Ac.3613A>T (p.Ser1205Cys)
c.3580A>T (p.Ser1194Cys)
n.612-5679T>A
c.3226A>T (p.Ser1076Cys)
c.2869A>T (p.Ser957Cys)
2g.166242516T>CCA349070058SCN1A-AS1,SCN9Ac.3613A>G (p.Ser1205Gly)
c.3580A>G (p.Ser1194Gly)
n.612-5679T>C
c.3226A>G (p.Ser1076Gly)
c.2869A>G (p.Ser957Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242516T>GCA349070056SCN1A-AS1,SCN9Ac.3613A>C (p.Ser1205Arg)
c.3580A>C (p.Ser1194Arg)
n.612-5679T>G
c.3226A>C (p.Ser1076Arg)
c.2869A>C (p.Ser957Arg)
2g.166242516T=CA1304945575SCN1A-AS1,SCN9Ac.3613A= (p.Ser1205=)
c.3580A= (p.Ser1194=)
n.612-5679T=
c.3226A= (p.Ser1076=)
c.2869A= (p.Ser957=)
2g.166242517G>ACA429901266SCN1A-AS1,SCN9Ac.3612C>T (p.Leu1204=)
c.3579C>T (p.Leu1193=)
n.612-5678G>A
c.3225C>T (p.Leu1075=)
c.2868C>T (p.Leu956=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242517G>CCA429901268SCN1A-AS1,SCN9Ac.3612C>G (p.Leu1204=)
c.3579C>G (p.Leu1193=)
n.612-5678G>C
c.3225C>G (p.Leu1075=)
c.2868C>G (p.Leu956=)
2g.166242517G=CA1304945580SCN1A-AS1,SCN9Ac.3612C= (p.Leu1204=)
c.3579C= (p.Leu1193=)
n.612-5678G=
c.3225C= (p.Leu1075=)
c.2868C= (p.Leu956=)
2g.166242517G>TCA429901267SCN1A-AS1,SCN9Ac.3612C>A (p.Leu1204=)
c.3579C>A (p.Leu1193=)
n.612-5678G>T
c.3225C>A (p.Leu1075=)
c.2868C>A (p.Leu956=)
 gnomAD v4
2g.166242518A>CCA349070061SCN1A-AS1,SCN9Ac.3611T>G (p.Leu1204Arg)
c.3578T>G (p.Leu1193Arg)
n.612-5677A>C
c.3224T>G (p.Leu1075Arg)
c.2867T>G (p.Leu956Arg)
 gnomAD v4
2g.166242518A>GCA349070063SCN1A-AS1,SCN9Ac.3611T>C (p.Leu1204Pro)
c.3578T>C (p.Leu1193Pro)
n.612-5677A>G
c.3224T>C (p.Leu1075Pro)
c.2867T>C (p.Leu956Pro)
2g.166242518A>TCA349070064SCN1A-AS1,SCN9Ac.3611T>A (p.Leu1204His)
c.3578T>A (p.Leu1193His)
n.612-5677A>T
c.3224T>A (p.Leu1075His)
c.2867T>A (p.Leu956His)
 gnomAD v4
2g.166242519G>ACA59814596SCN1A-AS1,SCN9Ac.3610C>T (p.Leu1204Phe)
c.3577C>T (p.Leu1193Phe)
n.612-5676G>A
c.3223C>T (p.Leu1075Phe)
c.2866C>T (p.Leu956Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166242519G>CCA349070066SCN1A-AS1,SCN9Ac.3610C>G (p.Leu1204Val)
c.3577C>G (p.Leu1193Val)
n.612-5676G>C
c.3223C>G (p.Leu1075Val)
c.2866C>G (p.Leu956Val)
2g.166242519G=CA1304945583SCN1A-AS1,SCN9Ac.3610C= (p.Leu1204=)
c.3577C= (p.Leu1193=)
n.612-5676G=
c.3223C= (p.Leu1075=)
c.2866C= (p.Leu956=)
2g.166242519G>TCA349070068SCN1A-AS1,SCN9Ac.3610C>A (p.Leu1204Ile)
c.3577C>A (p.Leu1193Ile)
n.612-5676G>T
c.3223C>A (p.Leu1075Ile)
c.2866C>A (p.Leu956Ile)
 gnomAD v4
2g.166242520C>ACA429901270SCN1A-AS1,SCN9Ac.3609G>T (p.Leu1203=)
c.3576G>T (p.Leu1192=)
n.612-5675C>A
c.3222G>T (p.Leu1074=)
c.2865G>T (p.Leu955=)
 gnomAD v4
2g.166242520C=CA1304945585SCN1A-AS1,SCN9Ac.3609G= (p.Leu1203=)
c.3576G= (p.Leu1192=)
n.612-5675C=
c.3222G= (p.Leu1074=)
c.2865G= (p.Leu955=)
2g.166242520C>GCA429901271SCN1A-AS1,SCN9Ac.3609G>C (p.Leu1203=)
c.3576G>C (p.Leu1192=)
n.612-5675C>G
c.3222G>C (p.Leu1074=)
c.2865G>C (p.Leu955=)
2g.166242520C>TCA429901273SCN1A-AS1,SCN9Ac.3609G>A (p.Leu1203=)
c.3576G>A (p.Leu1192=)
n.612-5675C>T
c.3222G>A (p.Leu1074=)
c.2865G>A (p.Leu955=)
 dbSNP gnomAD v4
2g.166242521A>CCA349070070SCN1A-AS1,SCN9Ac.3608T>G (p.Leu1203Arg)
c.3575T>G (p.Leu1192Arg)
n.612-5674A>C
c.3221T>G (p.Leu1074Arg)
c.2864T>G (p.Leu955Arg)
2g.166242521A>GCA349070074SCN1A-AS1,SCN9Ac.3608T>C (p.Leu1203Pro)
c.3575T>C (p.Leu1192Pro)
n.612-5674A>G
c.3221T>C (p.Leu1074Pro)
c.2864T>C (p.Leu955Pro)
 ClinVar gnomAD v4
2g.166242521A>TCA349070076SCN1A-AS1,SCN9Ac.3608T>A (p.Leu1203Gln)
c.3575T>A (p.Leu1192Gln)
n.612-5674A>T
c.3221T>A (p.Leu1074Gln)
c.2864T>A (p.Leu955Gln)
2g.166242522G>ACA429901274SCN1A-AS1,SCN9Ac.3607C>T (p.Leu1203=)
c.3574C>T (p.Leu1192=)
n.612-5673G>A
c.3220C>T (p.Leu1074=)
c.2863C>T (p.Leu955=)
 gnomAD v4
2g.166242522G>CCA349070077SCN1A-AS1,SCN9Ac.3607C>G (p.Leu1203Val)
c.3574C>G (p.Leu1192Val)
n.612-5673G>C
c.3220C>G (p.Leu1074Val)
c.2863C>G (p.Leu955Val)
2g.166242522G>TCA349070079SCN1A-AS1,SCN9Ac.3607C>A (p.Leu1203Met)
c.3574C>A (p.Leu1192Met)
n.612-5673G>T
c.3220C>A (p.Leu1074Met)
c.2863C>A (p.Leu955Met)
 gnomAD v4
2g.166242523G>ACA429901275SCN1A-AS1,SCN9Ac.3606C>T (p.Ile1202=)
c.3573C>T (p.Ile1191=)
n.612-5672G>A
c.3219C>T (p.Ile1073=)
c.2862C>T (p.Ile954=)
 dbSNP gnomAD v2 gnomAD v4
2g.166242523G>CCA349070087SCN1A-AS1,SCN9Ac.3606C>G (p.Ile1202Met)
c.3573C>G (p.Ile1191Met)
n.612-5672G>C
c.3219C>G (p.Ile1073Met)
c.2862C>G (p.Ile954Met)
 dbSNP gnomAD v3 gnomAD v4
2g.166242523G=CA1304945587SCN1A-AS1,SCN9Ac.3606C= (p.Ile1202=)
c.3573C= (p.Ile1191=)
n.612-5672G=
c.3219C= (p.Ile1073=)
c.2862C= (p.Ile954=)
2g.166242523G>TCA429901276SCN1A-AS1,SCN9Ac.3606C>A (p.Ile1202=)
c.3573C>A (p.Ile1191=)
n.612-5672G>T
c.3219C>A (p.Ile1073=)
c.2862C>A (p.Ile954=)
 gnomAD v4
2g.166242524A>CCA349070089SCN1A-AS1,SCN9Ac.3605T>G (p.Ile1202Ser)
c.3572T>G (p.Ile1191Ser)
n.612-5671A>C
c.3218T>G (p.Ile1073Ser)
c.2861T>G (p.Ile954Ser)
2g.166242524A>GCA349070092SCN1A-AS1,SCN9Ac.3605T>C (p.Ile1202Thr)
c.3572T>C (p.Ile1191Thr)
n.612-5671A>G
c.3218T>C (p.Ile1073Thr)
c.2861T>C (p.Ile954Thr)
2g.166242524A>TCA349070088SCN1A-AS1,SCN9Ac.3605T>A (p.Ile1202Asn)
c.3572T>A (p.Ile1191Asn)
n.612-5671A>T
c.3218T>A (p.Ile1073Asn)
c.2861T>A (p.Ile954Asn)
2g.166242525T>ACA349070093SCN1A-AS1,SCN9Ac.3604A>T (p.Ile1202Phe)
c.3571A>T (p.Ile1191Phe)
n.612-5670T>A
c.3217A>T (p.Ile1073Phe)
c.2860A>T (p.Ile954Phe)
2g.166242525T>CCA349070095SCN1A-AS1,SCN9Ac.3604A>G (p.Ile1202Val)
c.3571A>G (p.Ile1191Val)
n.612-5670T>C
c.3217A>G (p.Ile1073Val)
c.2860A>G (p.Ile954Val)
 gnomAD v4
2g.166242525T>GCA349070096SCN1A-AS1,SCN9Ac.3604A>C (p.Ile1202Leu)
c.3571A>C (p.Ile1191Leu)
n.612-5670T>G
c.3217A>C (p.Ile1073Leu)
c.2860A>C (p.Ile954Leu)
2g.166242526C>ACA349070099SCN1A-AS1,SCN9Ac.3603G>T (p.Met1201Ile)
c.3570G>T (p.Met1190Ile)
n.612-5669C>A
c.3216G>T (p.Met1072Ile)
c.2859G>T (p.Met953Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.166242526C=CA1304945589SCN1A-AS1,SCN9Ac.3603G= (p.Met1201=)
c.3570G= (p.Met1190=)
n.612-5669C=
c.3216G= (p.Met1072=)
c.2859G= (p.Met953=)
2g.166242526C>GCA349070100SCN1A-AS1,SCN9Ac.3603G>C (p.Met1201Ile)
c.3570G>C (p.Met1190Ile)
n.612-5669C>G
c.3216G>C (p.Met1072Ile)
c.2859G>C (p.Met953Ile)
 gnomAD v4
2g.166242526C>TCA349070101SCN1A-AS1,SCN9Ac.3603G>A (p.Met1201Ile)
c.3570G>A (p.Met1190Ile)
n.612-5669C>T
c.3216G>A (p.Met1072Ile)
c.2859G>A (p.Met953Ile)
 gnomAD v4
2g.166242527A=CA1304945591SCN1A-AS1,SCN9Ac.3602T= (p.Met1201=)
c.3569T= (p.Met1190=)
n.612-5668A=
c.3215T= (p.Met1072=)
c.2858T= (p.Met953=)
2g.166242527A>CCA349070103SCN1A-AS1,SCN9Ac.3602T>G (p.Met1201Arg)
c.3569T>G (p.Met1190Arg)
n.612-5668A>C
c.3215T>G (p.Met1072Arg)
c.2858T>G (p.Met953Arg)
2g.166242527A>GCA59814598SCN1A-AS1,SCN9Ac.3602T>C (p.Met1201Thr)
c.3569T>C (p.Met1190Thr)
n.612-5668A>G
c.3215T>C (p.Met1072Thr)
c.2858T>C (p.Met953Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166242527A>TCA349070106SCN1A-AS1,SCN9Ac.3602T>A (p.Met1201Lys)
c.3569T>A (p.Met1190Lys)
n.612-5668A>T
c.3215T>A (p.Met1072Lys)
c.2858T>A (p.Met953Lys)
2g.166242528T>ACA349070111SCN1A-AS1,SCN9Ac.3601A>T (p.Met1201Leu)
c.3568A>T (p.Met1190Leu)
n.612-5667T>A
c.3214A>T (p.Met1072Leu)
c.2857A>T (p.Met953Leu)
2g.166242528T>CCA349070112SCN1A-AS1,SCN9Ac.3601A>G (p.Met1201Val)
c.3568A>G (p.Met1190Val)
n.612-5667T>C
c.3214A>G (p.Met1072Val)
c.2857A>G (p.Met953Val)
 dbSNP gnomAD v2 gnomAD v4
2g.166242528T>GCA349070114SCN1A-AS1,SCN9Ac.3601A>C (p.Met1201Leu)
c.3568A>C (p.Met1190Leu)
n.612-5667T>G
c.3214A>C (p.Met1072Leu)
c.2857A>C (p.Met953Leu)
2g.166242528T=CA1304945593SCN1A-AS1,SCN9Ac.3601A= (p.Met1201=)
c.3568A= (p.Met1190=)
n.612-5667T=
c.3214A= (p.Met1072=)
c.2857A= (p.Met953=)
2g.166242529delCA2586970376SCN1A-AS1,SCN9Ac.3600del (p.Met1201Ter)
c.3567del (p.Met1190Ter)
n.612-5666del
c.3213del (p.Met1072Ter)
c.2856del (p.Met953Ter)
2g.166242529G>ACA429901278SCN1A-AS1,SCN9Ac.3600C>T (p.Leu1200=)
c.3567C>T (p.Leu1189=)
n.612-5666G>A
c.3213C>T (p.Leu1071=)
c.2856C>T (p.Leu952=)
2g.166242529G>CCA429901279SCN1A-AS1,SCN9Ac.3600C>G (p.Leu1200=)
c.3567C>G (p.Leu1189=)
n.612-5666G>C
c.3213C>G (p.Leu1071=)
c.2856C>G (p.Leu952=)
2g.166242529G>TCA429901280SCN1A-AS1,SCN9Ac.3600C>A (p.Leu1200=)
c.3567C>A (p.Leu1189=)
n.612-5666G>T
c.3213C>A (p.Leu1071=)
c.2856C>A (p.Leu952=)
2g.166242530A=CA1304945598SCN1A-AS1,SCN9Ac.3599T= (p.Leu1200=)
c.3566T= (p.Leu1189=)
n.612-5665A=
c.3212T= (p.Leu1071=)
c.2855T= (p.Leu952=)
2g.166242530A>CCA349070116SCN1A-AS1,SCN9Ac.3599T>G (p.Leu1200Arg)
c.3566T>G (p.Leu1189Arg)
n.612-5665A>C
c.3212T>G (p.Leu1071Arg)
c.2855T>G (p.Leu952Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.166242530A>GCA349070117SCN1A-AS1,SCN9Ac.3599T>C (p.Leu1200Pro)
c.3566T>C (p.Leu1189Pro)
n.612-5665A>G
c.3212T>C (p.Leu1071Pro)
c.2855T>C (p.Leu952Pro)
 gnomAD v4
2g.166242530A>TCA349070115SCN1A-AS1,SCN9Ac.3599T>A (p.Leu1200His)
c.3566T>A (p.Leu1189His)
n.612-5665A>T
c.3212T>A (p.Leu1071His)
c.2855T>A (p.Leu952His)
 ClinVar dbSNP gnomAD v4
2g.166242531G>ACA59814600SCN1A-AS1,SCN9Ac.3598C>T (p.Leu1200Phe)
c.3565C>T (p.Leu1189Phe)
n.612-5664G>A
c.3211C>T (p.Leu1071Phe)
c.2854C>T (p.Leu952Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242531G>CCA349070118SCN1A-AS1,SCN9Ac.3598C>G (p.Leu1200Val)
c.3565C>G (p.Leu1189Val)
n.612-5664G>C
c.3211C>G (p.Leu1071Val)
c.2854C>G (p.Leu952Val)
2g.166242531G=CA1304945603SCN1A-AS1,SCN9Ac.3598C= (p.Leu1200=)
c.3565C= (p.Leu1189=)
n.612-5664G=
c.3211C= (p.Leu1071=)
c.2854C= (p.Leu952=)
2g.166242531G>TCA349070119SCN1A-AS1,SCN9Ac.3598C>A (p.Leu1200Ile)
c.3565C>A (p.Leu1189Ile)
n.612-5664G>T
c.3211C>A (p.Leu1071Ile)
c.2854C>A (p.Leu952Ile)
 gnomAD v4
2g.166242532G>ACA429901281SCN1A-AS1,SCN9Ac.3597C>T (p.Val1199=)
c.3564C>T (p.Val1188=)
n.612-5663G>A
c.3210C>T (p.Val1070=)
c.2853C>T (p.Val951=)
 ClinVar dbSNP gnomAD v4
2g.166242532G>CCA429901282SCN1A-AS1,SCN9Ac.3597C>G (p.Val1199=)
c.3564C>G (p.Val1188=)
n.612-5663G>C
c.3210C>G (p.Val1070=)
c.2853C>G (p.Val951=)
2g.166242532G=CA1304945605SCN1A-AS1,SCN9Ac.3597C= (p.Val1199=)
c.3564C= (p.Val1188=)
n.612-5663G=
c.3210C= (p.Val1070=)
c.2853C= (p.Val951=)
2g.166242532G>TCA16610193SCN1A-AS1,SCN9Ac.3597C>A (p.Val1199=)
c.3564C>A (p.Val1188=)
n.612-5663G>T
c.3210C>A (p.Val1070=)
c.2853C>A (p.Val951=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242533A>CCA349070122SCN1A-AS1,SCN9Ac.3596T>G (p.Val1199Gly)
c.3563T>G (p.Val1188Gly)
n.612-5662A>C
c.3209T>G (p.Val1070Gly)
c.2852T>G (p.Val951Gly)
2g.166242533A>GCA349070121SCN1A-AS1,SCN9Ac.3596T>C (p.Val1199Ala)
c.3563T>C (p.Val1188Ala)
n.612-5662A>G
c.3209T>C (p.Val1070Ala)
c.2852T>C (p.Val951Ala)
2g.166242533A>TCA349070120SCN1A-AS1,SCN9Ac.3596T>A (p.Val1199Asp)
c.3563T>A (p.Val1188Asp)
n.612-5662A>T
c.3209T>A (p.Val1070Asp)
c.2852T>A (p.Val951Asp)
2g.166242534C>ACA349070124SCN1A-AS1,SCN9Ac.3595G>T (p.Val1199Phe)
c.3562G>T (p.Val1188Phe)
n.612-5661C>A
c.3208G>T (p.Val1070Phe)
c.2851G>T (p.Val951Phe)
 gnomAD v4
2g.166242534C>GCA349070125SCN1A-AS1,SCN9Ac.3595G>C (p.Val1199Leu)
c.3562G>C (p.Val1188Leu)
n.612-5661C>G
c.3208G>C (p.Val1070Leu)
c.2851G>C (p.Val951Leu)
 gnomAD v4
2g.166242534C>TCA349070126SCN1A-AS1,SCN9Ac.3595G>A (p.Val1199Ile)
c.3562G>A (p.Val1188Ile)
n.612-5661C>T
c.3208G>A (p.Val1070Ile)
c.2851G>A (p.Val951Ile)
 gnomAD v4
2g.166242535A>CCA349070128SCN1A-AS1,SCN9Ac.3594T>G (p.Ile1198Met)
c.3561T>G (p.Ile1187Met)
n.612-5660A>C
c.3207T>G (p.Ile1069Met)
c.2850T>G (p.Ile950Met)
2g.166242535A>GCA429901283SCN1A-AS1,SCN9Ac.3594T>C (p.Ile1198=)
c.3561T>C (p.Ile1187=)
n.612-5660A>G
c.3207T>C (p.Ile1069=)
c.2850T>C (p.Ile950=)
2g.166242535A>TCA429901284SCN1A-AS1,SCN9Ac.3594T>A (p.Ile1198=)
c.3561T>A (p.Ile1187=)
n.612-5660A>T
c.3207T>A (p.Ile1069=)
c.2850T>A (p.Ile950=)
2g.166242536A>CCA349070129SCN1A-AS1,SCN9Ac.3593T>G (p.Ile1198Ser)
c.3560T>G (p.Ile1187Ser)
n.612-5659A>C
c.3206T>G (p.Ile1069Ser)
c.2849T>G (p.Ile950Ser)
2g.166242536A>GCA349070131SCN1A-AS1,SCN9Ac.3593T>C (p.Ile1198Thr)
c.3560T>C (p.Ile1187Thr)
n.612-5659A>G
c.3206T>C (p.Ile1069Thr)
c.2849T>C (p.Ile950Thr)
 COSMIC COSMIC
2g.166242536A>TCA349070132SCN1A-AS1,SCN9Ac.3593T>A (p.Ile1198Asn)
c.3560T>A (p.Ile1187Asn)
n.612-5659A>T
c.3206T>A (p.Ile1069Asn)
c.2849T>A (p.Ile950Asn)
2g.166242537T>ACA349070135SCN1A-AS1,SCN9Ac.3592A>T (p.Ile1198Phe)
c.3559A>T (p.Ile1187Phe)
n.612-5658T>A
c.3205A>T (p.Ile1069Phe)
c.2848A>T (p.Ile950Phe)
2g.166242537T>CCA1944026SCN1A-AS1,SCN9Ac.3592A>G (p.Ile1198Val)
c.3559A>G (p.Ile1187Val)
n.612-5658T>C
c.3205A>G (p.Ile1069Val)
c.2848A>G (p.Ile950Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166242537T>GCA349070133SCN1A-AS1,SCN9Ac.3592A>C (p.Ile1198Leu)
c.3559A>C (p.Ile1187Leu)
n.612-5658T>G
c.3205A>C (p.Ile1069Leu)
c.2848A>C (p.Ile950Leu)
2g.166242537T=CA1304945607SCN1A-AS1,SCN9Ac.3592A= (p.Ile1198=)
c.3559A= (p.Ile1187=)
n.612-5658T=
c.3205A= (p.Ile1069=)
c.2848A= (p.Ile950=)
2g.166242538G>ACA429901289SCN1A-AS1,SCN9Ac.3591C>T (p.Phe1197=)
c.3558C>T (p.Phe1186=)
n.612-5657G>A
c.3204C>T (p.Phe1068=)
c.2847C>T (p.Phe949=)
 gnomAD v4
2g.166242538G>CCA349070138SCN1A-AS1,SCN9Ac.3591C>G (p.Phe1197Leu)
c.3558C>G (p.Phe1186Leu)
n.612-5657G>C
c.3204C>G (p.Phe1068Leu)
c.2847C>G (p.Phe949Leu)
2g.166242538G>TCA349070137SCN1A-AS1,SCN9Ac.3591C>A (p.Phe1197Leu)
c.3558C>A (p.Phe1186Leu)
n.612-5657G>T
c.3204C>A (p.Phe1068Leu)
c.2847C>A (p.Phe949Leu)
 gnomAD v4
2g.166242539A>CCA349070143SCN1A-AS1,SCN9Ac.3590T>G (p.Phe1197Cys)
c.3557T>G (p.Phe1186Cys)
n.612-5656A>C
c.3203T>G (p.Phe1068Cys)
c.2846T>G (p.Phe949Cys)
2g.166242539A>GCA349070140SCN1A-AS1,SCN9Ac.3590T>C (p.Phe1197Ser)
c.3557T>C (p.Phe1186Ser)
n.612-5656A>G
c.3203T>C (p.Phe1068Ser)
c.2846T>C (p.Phe949Ser)
 ClinVar
2g.166242539A>TCA349070142SCN1A-AS1,SCN9Ac.3590T>A (p.Phe1197Tyr)
c.3557T>A (p.Phe1186Tyr)
n.612-5656A>T
c.3203T>A (p.Phe1068Tyr)
c.2846T>A (p.Phe949Tyr)
2g.166242540A>CCA349070144SCN1A-AS1,SCN9Ac.3589T>G (p.Phe1197Val)
c.3556T>G (p.Phe1186Val)
n.612-5655A>C
c.3202T>G (p.Phe1068Val)
c.2845T>G (p.Phe949Val)
2g.166242540A>GCA349070145SCN1A-AS1,SCN9Ac.3589T>C (p.Phe1197Leu)
c.3556T>C (p.Phe1186Leu)
n.612-5655A>G
c.3202T>C (p.Phe1068Leu)
c.2845T>C (p.Phe949Leu)
 gnomAD v4
2g.166242540A>TCA349070146SCN1A-AS1,SCN9Ac.3589T>A (p.Phe1197Ile)
c.3556T>A (p.Phe1186Ile)
n.612-5655A>T
c.3202T>A (p.Phe1068Ile)
c.2845T>A (p.Phe949Ile)
2g.166242541G>ACA59814604SCN1A-AS1,SCN9Ac.3588C>T (p.Ser1196=)
c.3555C>T (p.Ser1185=)
n.612-5654G>A
c.3201C>T (p.Ser1067=)
c.2844C>T (p.Ser948=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166242541G>CCA349070147SCN1A-AS1,SCN9Ac.3588C>G (p.Ser1196Arg)
c.3555C>G (p.Ser1185Arg)
n.612-5654G>C
c.3201C>G (p.Ser1067Arg)
c.2844C>G (p.Ser948Arg)
2g.166242541G=CA1304945609SCN1A-AS1,SCN9Ac.3588C= (p.Ser1196=)
c.3555C= (p.Ser1185=)
n.612-5654G=
c.3201C= (p.Ser1067=)
c.2844C= (p.Ser948=)
2g.166242541G>TCA349070149SCN1A-AS1,SCN9Ac.3588C>A (p.Ser1196Arg)
c.3555C>A (p.Ser1185Arg)
n.612-5654G>T
c.3201C>A (p.Ser1067Arg)
c.2844C>A (p.Ser948Arg)
 gnomAD v4
2g.166242542delCA2580064324SCN1A-AS1,SCN9Ac.3587del (p.Ser1196ThrfsTer6)
c.3554del (p.Ser1185ThrfsTer6)
n.612-5653del
c.3200del (p.Ser1067ThrfsTer6)
c.2843del (p.Ser948ThrfsTer6)
 ClinVar gnomAD v4
2g.166242542C>ACA349070150SCN1A-AS1,SCN9Ac.3587G>T (p.Ser1196Ile)
c.3554G>T (p.Ser1185Ile)
n.612-5653C>A
c.3200G>T (p.Ser1067Ile)
c.2843G>T (p.Ser948Ile)
 gnomAD v4
2g.166242542C=CA1304945612SCN1A-AS1,SCN9Ac.3587G= (p.Ser1196=)
c.3554G= (p.Ser1185=)
n.612-5653C=
c.3200G= (p.Ser1067=)
c.2843G= (p.Ser948=)
2g.166242542C>GCA349070151SCN1A-AS1,SCN9Ac.3587G>C (p.Ser1196Thr)
c.3554G>C (p.Ser1185Thr)
n.612-5653C>G
c.3200G>C (p.Ser1067Thr)
c.2843G>C (p.Ser948Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242542C>TCA349070152SCN1A-AS1,SCN9Ac.3587G>A (p.Ser1196Asn)
c.3554G>A (p.Ser1185Asn)
n.612-5653C>T
c.3200G>A (p.Ser1067Asn)
c.2843G>A (p.Ser948Asn)
 ClinVar dbSNP gnomAD v4
2g.166242543T>ACA349070153SCN1A-AS1,SCN9Ac.3586A>T (p.Ser1196Cys)
c.3553A>T (p.Ser1185Cys)
n.612-5652T>A
c.3199A>T (p.Ser1067Cys)
c.2842A>T (p.Ser948Cys)
2g.166242543T>CCA349070155SCN1A-AS1,SCN9Ac.3586A>G (p.Ser1196Gly)
c.3553A>G (p.Ser1185Gly)
n.612-5652T>C
c.3199A>G (p.Ser1067Gly)
c.2842A>G (p.Ser948Gly)
2g.166242543T>GCA349070157SCN1A-AS1,SCN9Ac.3586A>C (p.Ser1196Arg)
c.3553A>C (p.Ser1185Arg)
n.612-5652T>G
c.3199A>C (p.Ser1067Arg)
c.2842A>C (p.Ser948Arg)
2g.166242544T>ACA349070159SCN1A-AS1,SCN9Ac.3585A>T (p.Glu1195Asp)
c.3552A>T (p.Glu1184Asp)
n.612-5651T>A
c.3198A>T (p.Glu1066Asp)
c.2841A>T (p.Glu947Asp)
2g.166242544T>CCA429901294SCN1A-AS1,SCN9Ac.3585A>G (p.Glu1195=)
c.3552A>G (p.Glu1184=)
n.612-5651T>C
c.3198A>G (p.Glu1066=)
c.2841A>G (p.Glu947=)
 gnomAD v4
2g.166242544T>GCA349070161SCN1A-AS1,SCN9Ac.3585A>C (p.Glu1195Asp)
c.3552A>C (p.Glu1184Asp)
n.612-5651T>G
c.3198A>C (p.Glu1066Asp)
c.2841A>C (p.Glu947Asp)
2g.166242545T>ACA349070163SCN1A-AS1,SCN9Ac.3584A>T (p.Glu1195Val)
c.3551A>T (p.Glu1184Val)
n.612-5650T>A
c.3197A>T (p.Glu1066Val)
c.2840A>T (p.Glu947Val)
2g.166242545T>CCA349070165SCN1A-AS1,SCN9Ac.3584A>G (p.Glu1195Gly)
c.3551A>G (p.Glu1184Gly)
n.612-5650T>C
c.3197A>G (p.Glu1066Gly)
c.2840A>G (p.Glu947Gly)
2g.166242545T>GCA349070167SCN1A-AS1,SCN9Ac.3584A>C (p.Glu1195Ala)
c.3551A>C (p.Glu1184Ala)
n.612-5650T>G
c.3197A>C (p.Glu1066Ala)
c.2840A>C (p.Glu947Ala)
2g.166242546C>ACA349070170SCN1A-AS1,SCN9Ac.3583G>T (p.Glu1195Ter)
c.3550G>T (p.Glu1184Ter)
n.612-5649C>A
c.3196G>T (p.Glu1066Ter)
c.2839G>T (p.Glu947Ter)
 dbSNP gnomAD v4
2g.166242546C=CA1304945614SCN1A-AS1,SCN9Ac.3583G= (p.Glu1195=)
c.3550G= (p.Glu1184=)
n.612-5649C=
c.3196G= (p.Glu1066=)
c.2839G= (p.Glu947=)
2g.166242546C>GCA349070172SCN1A-AS1,SCN9Ac.3583G>C (p.Glu1195Gln)
c.3550G>C (p.Glu1184Gln)
n.612-5649C>G
c.3196G>C (p.Glu1066Gln)
c.2839G>C (p.Glu947Gln)
2g.166242546C>TCA349070175SCN1A-AS1,SCN9Ac.3583G>A (p.Glu1195Lys)
c.3550G>A (p.Glu1184Lys)
n.612-5649C>T
c.3196G>A (p.Glu1066Lys)
c.2839G>A (p.Glu947Lys)
 gnomAD v4
2g.166242547A>CCA349070184SCN1A-AS1,SCN9Ac.3582T>G (p.Phe1194Leu)
c.3549T>G (p.Phe1183Leu)
n.612-5648A>C
c.3195T>G (p.Phe1065Leu)
c.2838T>G (p.Phe946Leu)
2g.166242547A>GCA429901296SCN1A-AS1,SCN9Ac.3582T>C (p.Phe1194=)
c.3549T>C (p.Phe1183=)
n.612-5648A>G
c.3195T>C (p.Phe1065=)
c.2838T>C (p.Phe946=)
2g.166242547A>TCA349070185SCN1A-AS1,SCN9Ac.3582T>A (p.Phe1194Leu)
c.3549T>A (p.Phe1183Leu)
n.612-5648A>T
c.3195T>A (p.Phe1065Leu)
c.2838T>A (p.Phe946Leu)
2g.166242548A>CCA349070189SCN1A-AS1,SCN9Ac.3581T>G (p.Phe1194Cys)
c.3548T>G (p.Phe1183Cys)
n.612-5647A>C
c.3194T>G (p.Phe1065Cys)
c.2837T>G (p.Phe946Cys)
2g.166242548A>GCA349070191SCN1A-AS1,SCN9Ac.3581T>C (p.Phe1194Ser)
c.3548T>C (p.Phe1183Ser)
n.612-5647A>G
c.3194T>C (p.Phe1065Ser)
c.2837T>C (p.Phe946Ser)
 ClinVar gnomAD v4
2g.166242548A>TCA349070193SCN1A-AS1,SCN9Ac.3581T>A (p.Phe1194Tyr)
c.3548T>A (p.Phe1183Tyr)
n.612-5647A>T
c.3194T>A (p.Phe1065Tyr)
c.2837T>A (p.Phe946Tyr)
 gnomAD v4
2g.166242549A>CCA349070199SCN1A-AS1,SCN9Ac.3580T>G (p.Phe1194Val)
c.3547T>G (p.Phe1183Val)
n.612-5646A>C
c.3193T>G (p.Phe1065Val)
c.2836T>G (p.Phe946Val)
2g.166242549A>GCA349070198SCN1A-AS1,SCN9Ac.3580T>C (p.Phe1194Leu)
c.3547T>C (p.Phe1183Leu)
n.612-5646A>G
c.3193T>C (p.Phe1065Leu)
c.2836T>C (p.Phe946Leu)
2g.166242549A>TCA349070195SCN1A-AS1,SCN9Ac.3580T>A (p.Phe1194Ile)
c.3547T>A (p.Phe1183Ile)
n.612-5646A>T
c.3193T>A (p.Phe1065Ile)
c.2836T>A (p.Phe946Ile)
2g.166242550C>ACA349070201SCN1A-AS1,SCN9Ac.3579G>T (p.Trp1193Cys)
c.3546G>T (p.Trp1182Cys)
n.612-5645C>A
c.3192G>T (p.Trp1064Cys)
c.2835G>T (p.Trp945Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242550C=CA1304945616SCN1A-AS1,SCN9Ac.3579G= (p.Trp1193=)
c.3546G= (p.Trp1182=)
n.612-5645C=
c.3192G= (p.Trp1064=)
c.2835G= (p.Trp945=)
2g.166242550C>GCA349070203SCN1A-AS1,SCN9Ac.3579G>C (p.Trp1193Cys)
c.3546G>C (p.Trp1182Cys)
n.612-5645C>G
c.3192G>C (p.Trp1064Cys)
c.2835G>C (p.Trp945Cys)
2g.166242550C>TCA349070207SCN1A-AS1,SCN9Ac.3579G>A (p.Trp1193Ter)
c.3546G>A (p.Trp1182Ter)
n.612-5645C>T
c.3192G>A (p.Trp1064Ter)
c.2835G>A (p.Trp945Ter)
 dbSNP
2g.166242551C>ACA349070210SCN1A-AS1,SCN9Ac.3578G>T (p.Trp1193Leu)
c.3545G>T (p.Trp1182Leu)
n.612-5644C>A
c.3191G>T (p.Trp1064Leu)
c.2834G>T (p.Trp945Leu)
 ClinVar gnomAD v4
2g.166242551C>GCA349070211SCN1A-AS1,SCN9Ac.3578G>C (p.Trp1193Ser)
c.3545G>C (p.Trp1182Ser)
n.612-5644C>G
c.3191G>C (p.Trp1064Ser)
c.2834G>C (p.Trp945Ser)
2g.166242551C>TCA349070214SCN1A-AS1,SCN9Ac.3578G>A (p.Trp1193Ter)
c.3545G>A (p.Trp1182Ter)
n.612-5644C>T
c.3191G>A (p.Trp1064Ter)
c.2834G>A (p.Trp945Ter)
2g.166242552A>CCA349070217SCN1A-AS1,SCN9Ac.3577T>G (p.Trp1193Gly)
c.3544T>G (p.Trp1182Gly)
n.612-5643A>C
c.3190T>G (p.Trp1064Gly)
c.2833T>G (p.Trp945Gly)
2g.166242552A>GCA349070222SCN1A-AS1,SCN9Ac.3577T>C (p.Trp1193Arg)
c.3544T>C (p.Trp1182Arg)
n.612-5643A>G
c.3190T>C (p.Trp1064Arg)
c.2833T>C (p.Trp945Arg)
2g.166242552A>TCA349070223SCN1A-AS1,SCN9Ac.3577T>A (p.Trp1193Arg)
c.3544T>A (p.Trp1182Arg)
n.612-5643A>T
c.3190T>A (p.Trp1064Arg)
c.2833T>A (p.Trp945Arg)
 gnomAD v4
2g.166242553A=CA1304945618SCN1A-AS1,SCN9Ac.3576T= (p.Ser1192=)
c.3543T= (p.Ser1181=)
n.612-5642A=
c.3189T= (p.Ser1063=)
c.2832T= (p.Ser944=)
2g.166242553A>CCA349070225SCN1A-AS1,SCN9Ac.3576T>G (p.Ser1192Arg)
c.3543T>G (p.Ser1181Arg)
n.612-5642A>C
c.3189T>G (p.Ser1063Arg)
c.2832T>G (p.Ser944Arg)
2g.166242553A>GCA1944027SCN1A-AS1,SCN9Ac.3576T>C (p.Ser1192=)
c.3543T>C (p.Ser1181=)
n.612-5642A>G
c.3189T>C (p.Ser1063=)
c.2832T>C (p.Ser944=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166242553A>TCA349070227SCN1A-AS1,SCN9Ac.3576T>A (p.Ser1192Arg)
c.3543T>A (p.Ser1181Arg)
n.612-5642A>T
c.3189T>A (p.Ser1063Arg)
c.2832T>A (p.Ser944Arg)
 gnomAD v4
2g.166242554C>ACA349070231SCN1A-AS1,SCN9Ac.3575G>T (p.Ser1192Ile)
c.3542G>T (p.Ser1181Ile)
n.612-5641C>A
c.3188G>T (p.Ser1063Ile)
c.2831G>T (p.Ser944Ile)
 gnomAD v4
2g.166242554C>GCA349070233SCN1A-AS1,SCN9Ac.3575G>C (p.Ser1192Thr)
c.3542G>C (p.Ser1181Thr)
n.612-5641C>G
c.3188G>C (p.Ser1063Thr)
c.2831G>C (p.Ser944Thr)
 COSMIC COSMIC
2g.166242554C>TCA349070230SCN1A-AS1,SCN9Ac.3575G>A (p.Ser1192Asn)
c.3542G>A (p.Ser1181Asn)
n.612-5641C>T
c.3188G>A (p.Ser1063Asn)
c.2831G>A (p.Ser944Asn)
 ClinVar dbSNP gnomAD v4
2g.166242555T>ACA349070237SCN1A-AS1,SCN9Ac.3574A>T (p.Ser1192Cys)
c.3541A>T (p.Ser1181Cys)
n.612-5640T>A
c.3187A>T (p.Ser1063Cys)
c.2830A>T (p.Ser944Cys)
2g.166242555T>CCA349070239SCN1A-AS1,SCN9Ac.3574A>G (p.Ser1192Gly)
c.3541A>G (p.Ser1181Gly)
n.612-5640T>C
c.3187A>G (p.Ser1063Gly)
c.2830A>G (p.Ser944Gly)
 gnomAD v4
2g.166242555T>GCA349070242SCN1A-AS1,SCN9Ac.3574A>C (p.Ser1192Arg)
c.3541A>C (p.Ser1181Arg)
n.612-5640T>G
c.3187A>C (p.Ser1063Arg)
c.2830A>C (p.Ser944Arg)
2g.166242556G>ACA1944028SCN1A-AS1,SCN9Ac.3573C>T (p.His1191=)
c.3540C>T (p.His1180=)
n.612-5639G>A
c.3186C>T (p.His1062=)
c.2829C>T (p.His943=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166242556G>CCA349070246SCN1A-AS1,SCN9Ac.3573C>G (p.His1191Gln)
c.3540C>G (p.His1180Gln)
n.612-5639G>C
c.3186C>G (p.His1062Gln)
c.2829C>G (p.His943Gln)
 gnomAD v4
2g.166242556G=CA1304945621SCN1A-AS1,SCN9Ac.3573C= (p.His1191=)
c.3540C= (p.His1180=)
n.612-5639G=
c.3186C= (p.His1062=)
c.2829C= (p.His943=)
2g.166242556G>TCA349070248SCN1A-AS1,SCN9Ac.3573C>A (p.His1191Gln)
c.3540C>A (p.His1180Gln)
n.612-5639G>T
c.3186C>A (p.His1062Gln)
c.2829C>A (p.His943Gln)
2g.166242557T>ACA349070251SCN1A-AS1,SCN9Ac.3572A>T (p.His1191Leu)
c.3539A>T (p.His1180Leu)
n.612-5638T>A
c.3185A>T (p.His1062Leu)
c.2828A>T (p.His943Leu)
2g.166242557T>CCA349070253SCN1A-AS1,SCN9Ac.3572A>G (p.His1191Arg)
c.3539A>G (p.His1180Arg)
n.612-5638T>C
c.3185A>G (p.His1062Arg)
c.2828A>G (p.His943Arg)
 gnomAD v4
2g.166242557T>GCA349070252SCN1A-AS1,SCN9Ac.3572A>C (p.His1191Pro)
c.3539A>C (p.His1180Pro)
n.612-5638T>G
c.3185A>C (p.His1062Pro)
c.2828A>C (p.His943Pro)
2g.166242558G>ACA349070254SCN1A-AS1,SCN9Ac.3571C>T (p.His1191Tyr)
c.3538C>T (p.His1180Tyr)
n.612-5637G>A
c.3184C>T (p.His1062Tyr)
c.2827C>T (p.His943Tyr)
 gnomAD v4
2g.166242558G>CCA349070255SCN1A-AS1,SCN9Ac.3571C>G (p.His1191Asp)
c.3538C>G (p.His1180Asp)
n.612-5637G>C
c.3184C>G (p.His1062Asp)
c.2827C>G (p.His943Asp)
2g.166242558G>TCA349070256SCN1A-AS1,SCN9Ac.3571C>A (p.His1191Asn)
c.3538C>A (p.His1180Asn)
n.612-5637G>T
c.3184C>A (p.His1062Asn)
c.2827C>A (p.His943Asn)
2g.166242559T>ACA349070257SCN1A-AS1,SCN9Ac.3570A>T (p.Glu1190Asp)
c.3537A>T (p.Glu1179Asp)
n.612-5636T>A
c.3183A>T (p.Glu1061Asp)
c.2826A>T (p.Glu942Asp)
2g.166242559T>CCA429901306SCN1A-AS1,SCN9Ac.3570A>G (p.Glu1190=)
c.3537A>G (p.Glu1179=)
n.612-5636T>C
c.3183A>G (p.Glu1061=)
c.2826A>G (p.Glu942=)
 gnomAD v4
2g.166242559T>GCA349070258SCN1A-AS1,SCN9Ac.3570A>C (p.Glu1190Asp)
c.3537A>C (p.Glu1179Asp)
n.612-5636T>G
c.3183A>C (p.Glu1061Asp)
c.2826A>C (p.Glu942Asp)
2g.166242560T>ACA349070267SCN1A-AS1,SCN9Ac.3569A>T (p.Glu1190Val)
c.3536A>T (p.Glu1179Val)
n.612-5635T>A
c.3182A>T (p.Glu1061Val)
c.2825A>T (p.Glu942Val)
 gnomAD v4
2g.166242560T>CCA349070270SCN1A-AS1,SCN9Ac.3569A>G (p.Glu1190Gly)
c.3536A>G (p.Glu1179Gly)
n.612-5635T>C
c.3182A>G (p.Glu1061Gly)
c.2825A>G (p.Glu942Gly)
2g.166242560T>GCA349070262SCN1A-AS1,SCN9Ac.3569A>C (p.Glu1190Ala)
c.3536A>C (p.Glu1179Ala)
n.612-5635T>G
c.3182A>C (p.Glu1061Ala)
c.2825A>C (p.Glu942Ala)
 gnomAD v4
2g.166242561C>ACA349070272SCN1A-AS1,SCN9Ac.3568G>T (p.Glu1190Ter)
c.3535G>T (p.Glu1179Ter)
n.612-5634C>A
c.3181G>T (p.Glu1061Ter)
c.2824G>T (p.Glu942Ter)
 dbSNP gnomAD v4
2g.166242561C=CA1304945622SCN1A-AS1,SCN9Ac.3568G= (p.Glu1190=)
c.3535G= (p.Glu1179=)
n.612-5634C=
c.3181G= (p.Glu1061=)
c.2824G= (p.Glu942=)
2g.166242561C>GCA349070276SCN1A-AS1,SCN9Ac.3568G>C (p.Glu1190Gln)
c.3535G>C (p.Glu1179Gln)
n.612-5634C>G
c.3181G>C (p.Glu1061Gln)
c.2824G>C (p.Glu942Gln)
2g.166242561C>TCA349070274SCN1A-AS1,SCN9Ac.3568G>A (p.Glu1190Lys)
c.3535G>A (p.Glu1179Lys)
n.612-5634C>T
c.3181G>A (p.Glu1061Lys)
c.2824G>A (p.Glu942Lys)
2g.166242562A>CCA429901312SCN1A-AS1,SCN9Ac.3567T>G (p.Val1189=)
c.3534T>G (p.Val1178=)
n.612-5633A>C
c.3180T>G (p.Val1060=)
c.2823T>G (p.Val941=)
2g.166242562A>GCA429901313SCN1A-AS1,SCN9Ac.3567T>C (p.Val1189=)
c.3534T>C (p.Val1178=)
n.612-5633A>G
c.3180T>C (p.Val1060=)
c.2823T>C (p.Val941=)
2g.166242562A>TCA429901315SCN1A-AS1,SCN9Ac.3567T>A (p.Val1189=)
c.3534T>A (p.Val1178=)
n.612-5633A>T
c.3180T>A (p.Val1060=)
c.2823T>A (p.Val941=)
2g.166242563A=CA1304945623SCN1A-AS1,SCN9Ac.3566T= (p.Val1189=)
c.3533T= (p.Val1178=)
n.612-5632A=
c.3179T= (p.Val1060=)
c.2822T= (p.Val941=)
2g.166242563A>CCA1944029SCN1A-AS1,SCN9Ac.3566T>G (p.Val1189Gly)
c.3533T>G (p.Val1178Gly)
n.612-5632A>C
c.3179T>G (p.Val1060Gly)
c.2822T>G (p.Val941Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166242563A>GCA349070277SCN1A-AS1,SCN9Ac.3566T>C (p.Val1189Ala)
c.3533T>C (p.Val1178Ala)
n.612-5632A>G
c.3179T>C (p.Val1060Ala)
c.2822T>C (p.Val941Ala)
 gnomAD v4
2g.166242563A>TCA349070278SCN1A-AS1,SCN9Ac.3566T>A (p.Val1189Asp)
c.3533T>A (p.Val1178Asp)
n.612-5632A>T
c.3179T>A (p.Val1060Asp)
c.2822T>A (p.Val941Asp)
2g.166242564C>ACA349070279SCN1A-AS1,SCN9Ac.3565G>T (p.Val1189Phe)
c.3532G>T (p.Val1178Phe)
n.612-5631C>A
c.3178G>T (p.Val1060Phe)
c.2821G>T (p.Val941Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.166242564C=CA1304945626SCN1A-AS1,SCN9Ac.3565G= (p.Val1189=)
c.3532G= (p.Val1178=)
n.612-5631C=
c.3178G= (p.Val1060=)
c.2821G= (p.Val941=)
2g.166242564C>GCA349070280SCN1A-AS1,SCN9Ac.3565G>C (p.Val1189Leu)
c.3532G>C (p.Val1178Leu)
n.612-5631C>G
c.3178G>C (p.Val1060Leu)
c.2821G>C (p.Val941Leu)
2g.166242564C>TCA349070282SCN1A-AS1,SCN9Ac.3565G>A (p.Val1189Ile)
c.3532G>A (p.Val1178Ile)
n.612-5631C>T
c.3178G>A (p.Val1060Ile)
c.2821G>A (p.Val941Ile)
 gnomAD v4
2g.166242565A>CCA349070284SCN1A-AS1,SCN9Ac.3564T>G (p.Ile1188Met)
c.3531T>G (p.Ile1177Met)
n.612-5630A>C
c.3177T>G (p.Ile1059Met)
c.2820T>G (p.Ile940Met)
2g.166242565A>GCA429901318SCN1A-AS1,SCN9Ac.3564T>C (p.Ile1188=)
c.3531T>C (p.Ile1177=)
n.612-5630A>G
c.3177T>C (p.Ile1059=)
c.2820T>C (p.Ile940=)
 gnomAD v4
2g.166242565A>TCA429901320SCN1A-AS1,SCN9Ac.3564T>A (p.Ile1188=)
c.3531T>A (p.Ile1177=)
n.612-5630A>T
c.3177T>A (p.Ile1059=)
c.2820T>A (p.Ile940=)
2g.166242566A=CA1304945627SCN1A-AS1,SCN9Ac.3563T= (p.Ile1188=)
c.3530T= (p.Ile1177=)
n.612-5629A=
c.3176T= (p.Ile1059=)
c.2819T= (p.Ile940=)
2g.166242566A>CCA349070287SCN1A-AS1,SCN9Ac.3563T>G (p.Ile1188Ser)
c.3530T>G (p.Ile1177Ser)
n.612-5629A>C
c.3176T>G (p.Ile1059Ser)
c.2819T>G (p.Ile940Ser)
2g.166242566A>GCA349070289SCN1A-AS1,SCN9Ac.3563T>C (p.Ile1188Thr)
c.3530T>C (p.Ile1177Thr)
n.612-5629A>G
c.3176T>C (p.Ile1059Thr)
c.2819T>C (p.Ile940Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242566A>TCA349070292SCN1A-AS1,SCN9Ac.3563T>A (p.Ile1188Asn)
c.3530T>A (p.Ile1177Asn)
n.612-5629A>T
c.3176T>A (p.Ile1059Asn)
c.2819T>A (p.Ile940Asn)
2g.166242567T>ACA349070294SCN1A-AS1,SCN9Ac.3562A>T (p.Ile1188Phe)
c.3529A>T (p.Ile1177Phe)
n.612-5628T>A
c.3175A>T (p.Ile1059Phe)
c.2818A>T (p.Ile940Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242567T>CCA349070295SCN1A-AS1,SCN9Ac.3562A>G (p.Ile1188Val)
c.3529A>G (p.Ile1177Val)
n.612-5628T>C
c.3175A>G (p.Ile1059Val)
c.2818A>G (p.Ile940Val)
2g.166242567T>GCA349070296SCN1A-AS1,SCN9Ac.3562A>C (p.Ile1188Leu)
c.3529A>C (p.Ile1177Leu)
n.612-5628T>G
c.3175A>C (p.Ile1059Leu)
c.2818A>C (p.Ile940Leu)
2g.166242567T=CA1304945628SCN1A-AS1,SCN9Ac.3562A= (p.Ile1188=)
c.3529A= (p.Ile1177=)
n.612-5628T=
c.3175A= (p.Ile1059=)
c.2818A= (p.Ile940=)
2g.166242568C>ACA349070298SCN1A-AS1,SCN9Ac.3561G>T (p.Lys1187Asn)
c.3528G>T (p.Lys1176Asn)
n.612-5627C>A
c.3174G>T (p.Lys1058Asn)
c.2817G>T (p.Lys939Asn)
 gnomAD v4
2g.166242568C=CA1304945630SCN1A-AS1,SCN9Ac.3561G= (p.Lys1187=)
c.3528G= (p.Lys1176=)
n.612-5627C=
c.3174G= (p.Lys1058=)
c.2817G= (p.Lys939=)
2g.166242568C>GCA1944030SCN1A-AS1,SCN9Ac.3561G>C (p.Lys1187Asn)
c.3528G>C (p.Lys1176Asn)
n.612-5627C>G
c.3174G>C (p.Lys1058Asn)
c.2817G>C (p.Lys939Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166242568C>TCA429901325SCN1A-AS1,SCN9Ac.3561G>A (p.Lys1187=)
c.3528G>A (p.Lys1176=)
n.612-5627C>T
c.3174G>A (p.Lys1058=)
c.2817G>A (p.Lys939=)
2g.166242569T>ACA349070303SCN1A-AS1,SCN9Ac.3560A>T (p.Lys1187Met)
c.3527A>T (p.Lys1176Met)
n.612-5626T>A
c.3173A>T (p.Lys1058Met)
c.2816A>T (p.Lys939Met)
2g.166242569T>CCA349070305SCN1A-AS1,SCN9Ac.3560A>G (p.Lys1187Arg)
c.3527A>G (p.Lys1176Arg)
n.612-5626T>C
c.3173A>G (p.Lys1058Arg)
c.2816A>G (p.Lys939Arg)
2g.166242569T>GCA349070306SCN1A-AS1,SCN9Ac.3560A>C (p.Lys1187Thr)
c.3527A>C (p.Lys1176Thr)
n.612-5626T>G
c.3173A>C (p.Lys1058Thr)
c.2816A>C (p.Lys939Thr)
2g.166242570T>ACA349070311SCN1A-AS1,SCN9Ac.3559A>T (p.Lys1187Ter)
c.3526A>T (p.Lys1176Ter)
n.612-5625T>A
c.3172A>T (p.Lys1058Ter)
c.2815A>T (p.Lys939Ter)
 dbSNP
2g.166242570T>CCA349070313SCN1A-AS1,SCN9Ac.3559A>G (p.Lys1187Glu)
c.3526A>G (p.Lys1176Glu)
n.612-5625T>C
c.3172A>G (p.Lys1058Glu)
c.2815A>G (p.Lys939Glu)
2g.166242570T>GCA349070315SCN1A-AS1,SCN9Ac.3559A>C (p.Lys1187Gln)
c.3526A>C (p.Lys1176Gln)
n.612-5625T>G
c.3172A>C (p.Lys1058Gln)
c.2815A>C (p.Lys939Gln)
2g.166242570T=CA1304945632SCN1A-AS1,SCN9Ac.3559A= (p.Lys1187=)
c.3526A= (p.Lys1176=)
n.612-5625T=
c.3172A= (p.Lys1058=)
c.2815A= (p.Lys939=)
2g.166242571G>ACA429901328SCN1A-AS1,SCN9Ac.3558C>T (p.Tyr1186=)
c.3525C>T (p.Tyr1175=)
n.612-5624G>A
c.3171C>T (p.Tyr1057=)
c.2814C>T (p.Tyr938=)
 gnomAD v4
2g.166242571G>CCA349070319SCN1A-AS1,SCN9Ac.3558C>G (p.Tyr1186Ter)
c.3525C>G (p.Tyr1175Ter)
n.612-5624G>C
c.3171C>G (p.Tyr1057Ter)
c.2814C>G (p.Tyr938Ter)
2g.166242571G>TCA349070322SCN1A-AS1,SCN9Ac.3558C>A (p.Tyr1186Ter)
c.3525C>A (p.Tyr1175Ter)
n.612-5624G>T
c.3171C>A (p.Tyr1057Ter)
c.2814C>A (p.Tyr938Ter)
 gnomAD v4
2g.166242572T>ACA349070324SCN1A-AS1,SCN9Ac.3557A>T (p.Tyr1186Phe)
c.3524A>T (p.Tyr1175Phe)
n.612-5623T>A
c.3170A>T (p.Tyr1057Phe)
c.2813A>T (p.Tyr938Phe)
2g.166242572T>CCA349070326SCN1A-AS1,SCN9Ac.3557A>G (p.Tyr1186Cys)
c.3524A>G (p.Tyr1175Cys)
n.612-5623T>C
c.3170A>G (p.Tyr1057Cys)
c.2813A>G (p.Tyr938Cys)
2g.166242572T>GCA349070328SCN1A-AS1,SCN9Ac.3557A>C (p.Tyr1186Ser)
c.3524A>C (p.Tyr1175Ser)
n.612-5623T>G
c.3170A>C (p.Tyr1057Ser)
c.2813A>C (p.Tyr938Ser)
2g.166242573A=CA1304945634SCN1A-AS1,SCN9Ac.3556T= (p.Tyr1186=)
c.3523T= (p.Tyr1175=)
n.612-5622A=
c.3169T= (p.Tyr1057=)
c.2812T= (p.Tyr938=)
2g.166242573A>CCA349070335SCN1A-AS1,SCN9Ac.3556T>G (p.Tyr1186Asp)
c.3523T>G (p.Tyr1175Asp)
n.612-5622A>C
c.3169T>G (p.Tyr1057Asp)
c.2812T>G (p.Tyr938Asp)
2g.166242573A>GCA349070334SCN1A-AS1,SCN9Ac.3556T>C (p.Tyr1186His)
c.3523T>C (p.Tyr1175His)
n.612-5622A>G
c.3169T>C (p.Tyr1057His)
c.2812T>C (p.Tyr938His)
 dbSNP
2g.166242573A>TCA349070332SCN1A-AS1,SCN9Ac.3556T>A (p.Tyr1186Asn)
c.3523T>A (p.Tyr1175Asn)
n.612-5622A>T
c.3169T>A (p.Tyr1057Asn)
c.2812T>A (p.Tyr938Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166242574G>ACA429901332SCN1A-AS1,SCN9Ac.3555C>T (p.Cys1185=)
c.3522C>T (p.Cys1174=)
n.612-5621G>A
c.3168C>T (p.Cys1056=)
c.2811C>T (p.Cys937=)
2g.166242574G>CCA349070340SCN1A-AS1,SCN9Ac.3555C>G (p.Cys1185Trp)
c.3522C>G (p.Cys1174Trp)
n.612-5621G>C
c.3168C>G (p.Cys1056Trp)
c.2811C>G (p.Cys937Trp)
2g.166242574G=CA1304945638SCN1A-AS1,SCN9Ac.3555C= (p.Cys1185=)
c.3522C= (p.Cys1174=)
n.612-5621G=
c.3168C= (p.Cys1056=)
c.2811C= (p.Cys937=)
2g.166242574G>TCA349070337SCN1A-AS1,SCN9Ac.3555C>A (p.Cys1185Ter)
c.3522C>A (p.Cys1174Ter)
n.612-5621G>T
c.3168C>A (p.Cys1056Ter)
c.2811C>A (p.Cys937Ter)
 dbSNP gnomAD v4
2g.166242575C>ACA349070342SCN1A-AS1,SCN9Ac.3554G>T (p.Cys1185Phe)
c.3521G>T (p.Cys1174Phe)
c.2255G>T
n.612-5620C>A
c.3167G>T (p.Cys1056Phe)
c.2810G>T (p.Cys937Phe)
 gnomAD v4
2g.166242575C>GCA349070344SCN1A-AS1,SCN9Ac.3554G>C (p.Cys1185Ser)
c.3521G>C (p.Cys1174Ser)
c.2255G>C
n.612-5620C>G
c.3167G>C (p.Cys1056Ser)
c.2810G>C (p.Cys937Ser)
2g.166242575C>TCA349070345SCN1A-AS1,SCN9Ac.3554G>A (p.Cys1185Tyr)
c.3521G>A (p.Cys1174Tyr)
c.2255G>A
n.612-5620C>T
c.3167G>A (p.Cys1056Tyr)
c.2810G>A (p.Cys937Tyr)

Number of alleles fetched