Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166228869A>CCA349064160SCN1A-AS1,SCN9Ac.4028T>G (p.Phe1343Cys)
c.3872T>G (p.Phe1291Cys)
c.3995T>G (p.Phe1332Cys)
n.612-19326A>C
c.3641T>G (p.Phe1214Cys)
c.3284T>G (p.Phe1095Cys)
2g.166228869A>GCA349064161SCN1A-AS1,SCN9Ac.4028T>C (p.Phe1343Ser)
c.3872T>C (p.Phe1291Ser)
c.3995T>C (p.Phe1332Ser)
n.612-19326A>G
c.3641T>C (p.Phe1214Ser)
c.3284T>C (p.Phe1095Ser)
2g.166228869A>TCA349064162SCN1A-AS1,SCN9Ac.4028T>A (p.Phe1343Tyr)
c.3872T>A (p.Phe1291Tyr)
c.3995T>A (p.Phe1332Tyr)
n.612-19326A>T
c.3641T>A (p.Phe1214Tyr)
c.3284T>A (p.Phe1095Tyr)
2g.166228870A>CCA349064163SCN1A-AS1,SCN9Ac.4027T>G (p.Phe1343Val)
c.3871T>G (p.Phe1291Val)
c.3994T>G (p.Phe1332Val)
n.612-19325A>C
c.3640T>G (p.Phe1214Val)
c.3283T>G (p.Phe1095Val)
2g.166228870A>GCA349064164SCN1A-AS1,SCN9Ac.4027T>C (p.Phe1343Leu)
c.3871T>C (p.Phe1291Leu)
c.3994T>C (p.Phe1332Leu)
n.612-19325A>G
c.3640T>C (p.Phe1214Leu)
c.3283T>C (p.Phe1095Leu)
2g.166228870A>TCA349064166SCN1A-AS1,SCN9Ac.4027T>A (p.Phe1343Ile)
c.3871T>A (p.Phe1291Ile)
c.3994T>A (p.Phe1332Ile)
n.612-19325A>T
c.3640T>A (p.Phe1214Ile)
c.3283T>A (p.Phe1095Ile)
2g.166228870_166228871delinsACCA1304943687SCN1A-AS1,SCN9Ac.4026_4027delinsGT (p.Leu1342=)
c.3870_3871delinsGT (p.Leu1290=)
c.3993_3994delinsGT (p.Leu1331=)
n.612-19325_612-19324delinsAC
c.3639_3640delinsGT (p.Leu1213=)
c.3282_3283delinsGT (p.Leu1094=)
2g.166228871C>ACA59810326SCN1A-AS1,SCN9Ac.4026G>T (p.Leu1342Phe)
c.3870G>T (p.Leu1290Phe)
c.3993G>T (p.Leu1331Phe)
n.612-19324C>A
c.3639G>T (p.Leu1213Phe)
c.3282G>T (p.Leu1094Phe)
 dbSNP
2g.166228871C=CA1304943688SCN1A-AS1,SCN9Ac.4026G= (p.Leu1342=)
c.3870G= (p.Leu1290=)
c.3993G= (p.Leu1331=)
n.612-19324C=
c.3639G= (p.Leu1213=)
c.3282G= (p.Leu1094=)
2g.166228871C>GCA59810323SCN1A-AS1,SCN9Ac.4026G>C (p.Leu1342Phe)
c.3870G>C (p.Leu1290Phe)
c.3993G>C (p.Leu1331Phe)
n.612-19324C>G
c.3639G>C (p.Leu1213Phe)
c.3282G>C (p.Leu1094Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.166228871C>TCA429899336SCN1A-AS1,SCN9Ac.4026G>A (p.Leu1342=)
c.3870G>A (p.Leu1290=)
c.3993G>A (p.Leu1331=)
n.612-19324C>T
c.3639G>A (p.Leu1213=)
c.3282G>A (p.Leu1094=)
2g.166228871delinsAACA171010SCN1A-AS1,SCN9Ac.4026delinsTT (p.Leu1342PhefsTer8)
c.3870delinsTT (p.Leu1290PhefsTer8)
c.3993delinsTT (p.Leu1331PhefsTer8)
n.612-19324delinsAA
c.3639delinsTT (p.Leu1213PhefsTer8)
c.3282delinsTT (p.Leu1094PhefsTer8)
 ClinVar dbSNP
2g.166228872A=CA1304943689SCN1A-AS1,SCN9Ac.4025T= (p.Leu1342=)
c.3869T= (p.Leu1290=)
c.3992T= (p.Leu1331=)
n.612-19323A=
c.3638T= (p.Leu1213=)
c.3281T= (p.Leu1094=)
2g.166228872A>CCA349064195SCN1A-AS1,SCN9Ac.4025T>G (p.Leu1342Trp)
c.3869T>G (p.Leu1290Trp)
c.3992T>G (p.Leu1331Trp)
n.612-19323A>C
c.3638T>G (p.Leu1213Trp)
c.3281T>G (p.Leu1094Trp)
2g.166228872A>GCA349064198SCN1A-AS1,SCN9Ac.4025T>C (p.Leu1342Ser)
c.3869T>C (p.Leu1290Ser)
c.3992T>C (p.Leu1331Ser)
n.612-19323A>G
c.3638T>C (p.Leu1213Ser)
c.3281T>C (p.Leu1094Ser)
 ClinVar dbSNP
2g.166228872A>TCA349064201SCN1A-AS1,SCN9Ac.4025T>A (p.Leu1342Ter)
c.3869T>A (p.Leu1290Ter)
c.3992T>A (p.Leu1331Ter)
n.612-19323A>T
c.3638T>A (p.Leu1213Ter)
c.3281T>A (p.Leu1094Ter)
 dbSNP
2g.166228873A=CA1304943690SCN1A-AS1,SCN9Ac.4024T= (p.Leu1342=)
c.3868T= (p.Leu1290=)
c.3991T= (p.Leu1331=)
n.612-19322A=
c.3637T= (p.Leu1213=)
c.3280T= (p.Leu1094=)
2g.166228873A>CCA349064206SCN1A-AS1,SCN9Ac.4024T>G (p.Leu1342Val)
c.3868T>G (p.Leu1290Val)
c.3991T>G (p.Leu1331Val)
n.612-19322A>C
c.3637T>G (p.Leu1213Val)
c.3280T>G (p.Leu1094Val)
 ClinVar dbSNP COSMIC COSMIC
2g.166228873A>GCA429899344SCN1A-AS1,SCN9Ac.4024T>C (p.Leu1342=)
c.3868T>C (p.Leu1290=)
c.3991T>C (p.Leu1331=)
n.612-19322A>G
c.3637T>C (p.Leu1213=)
c.3280T>C (p.Leu1094=)
 gnomAD v4
2g.166228873A>TCA349064208SCN1A-AS1,SCN9Ac.4024T>A (p.Leu1342Met)
c.3868T>A (p.Leu1290Met)
c.3991T>A (p.Leu1331Met)
n.612-19322A>T
c.3637T>A (p.Leu1213Met)
c.3280T>A (p.Leu1094Met)
2g.166228874A>CCA349064212SCN1A-AS1,SCN9Ac.4023T>G (p.Asn1341Lys)
c.3867T>G (p.Asn1289Lys)
c.3990T>G (p.Asn1330Lys)
n.612-19321A>C
c.3636T>G (p.Asn1212Lys)
c.3279T>G (p.Asn1093Lys)
 COSMIC COSMIC
2g.166228874A>GCA429899346SCN1A-AS1,SCN9Ac.4023T>C (p.Asn1341=)
c.3867T>C (p.Asn1289=)
c.3990T>C (p.Asn1330=)
n.612-19321A>G
c.3636T>C (p.Asn1212=)
c.3279T>C (p.Asn1093=)
2g.166228874A>TCA349064215SCN1A-AS1,SCN9Ac.4023T>A (p.Asn1341Lys)
c.3867T>A (p.Asn1289Lys)
c.3990T>A (p.Asn1330Lys)
n.612-19321A>T
c.3636T>A (p.Asn1212Lys)
c.3279T>A (p.Asn1093Lys)
2g.166228875T>ACA349064221SCN1A-AS1,SCN9Ac.4022A>T (p.Asn1341Ile)
c.3866A>T (p.Asn1289Ile)
c.3989A>T (p.Asn1330Ile)
n.612-19320T>A
c.3635A>T (p.Asn1212Ile)
c.3278A>T (p.Asn1093Ile)
2g.166228875T>CCA349064226SCN1A-AS1,SCN9Ac.4022A>G (p.Asn1341Ser)
c.3866A>G (p.Asn1289Ser)
c.3989A>G (p.Asn1330Ser)
n.612-19320T>C
c.3635A>G (p.Asn1212Ser)
c.3278A>G (p.Asn1093Ser)
2g.166228875T>GCA349064228SCN1A-AS1,SCN9Ac.4022A>C (p.Asn1341Thr)
c.3866A>C (p.Asn1289Thr)
c.3989A>C (p.Asn1330Thr)
n.612-19320T>G
c.3635A>C (p.Asn1212Thr)
c.3278A>C (p.Asn1093Thr)
2g.166228876T>ACA349064231SCN1A-AS1,SCN9Ac.4021A>T (p.Asn1341Tyr)
c.3865A>T (p.Asn1289Tyr)
c.3988A>T (p.Asn1330Tyr)
n.612-19319T>A
c.3634A>T (p.Asn1212Tyr)
c.3277A>T (p.Asn1093Tyr)
2g.166228876T>CCA349064235SCN1A-AS1,SCN9Ac.4021A>G (p.Asn1341Asp)
c.3865A>G (p.Asn1289Asp)
c.3988A>G (p.Asn1330Asp)
n.612-19319T>C
c.3634A>G (p.Asn1212Asp)
c.3277A>G (p.Asn1093Asp)
2g.166228876T>GCA1943962SCN1A-AS1,SCN9Ac.4021A>C (p.Asn1341His)
c.3865A>C (p.Asn1289His)
c.3988A>C (p.Asn1330His)
n.612-19319T>G
c.3634A>C (p.Asn1212His)
c.3277A>C (p.Asn1093His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.166228876T=CA1304943691SCN1A-AS1,SCN9Ac.4021A= (p.Asn1341=)
c.3865A= (p.Asn1289=)
c.3988A= (p.Asn1330=)
n.612-19319T=
c.3634A= (p.Asn1212=)
c.3277A= (p.Asn1093=)
2g.166228877T>ACA429899347SCN1A-AS1,SCN9Ac.4020A>T (p.Val1340=)
c.3864A>T (p.Val1288=)
c.3987A>T (p.Val1329=)
n.612-19318T>A
c.3633A>T (p.Val1211=)
c.3276A>T (p.Val1092=)
2g.166228877T>CCA429899348SCN1A-AS1,SCN9Ac.4020A>G (p.Val1340=)
c.3864A>G (p.Val1288=)
c.3987A>G (p.Val1329=)
n.612-19318T>C
c.3633A>G (p.Val1211=)
c.3276A>G (p.Val1092=)
2g.166228877T>GCA429899349SCN1A-AS1,SCN9Ac.4020A>C (p.Val1340=)
c.3864A>C (p.Val1288=)
c.3987A>C (p.Val1329=)
n.612-19318T>G
c.3633A>C (p.Val1211=)
c.3276A>C (p.Val1092=)
2g.166228878A>CCA349064240SCN1A-AS1,SCN9Ac.4019T>G (p.Val1340Gly)
c.3863T>G (p.Val1288Gly)
c.3986T>G (p.Val1329Gly)
n.612-19317A>C
c.3632T>G (p.Val1211Gly)
c.3275T>G (p.Val1092Gly)
2g.166228878A>GCA349064241SCN1A-AS1,SCN9Ac.4019T>C (p.Val1340Ala)
c.3863T>C (p.Val1288Ala)
c.3986T>C (p.Val1329Ala)
n.612-19317A>G
c.3632T>C (p.Val1211Ala)
c.3275T>C (p.Val1092Ala)
2g.166228878A>TCA349064242SCN1A-AS1,SCN9Ac.4019T>A (p.Val1340Glu)
c.3863T>A (p.Val1288Glu)
c.3986T>A (p.Val1329Glu)
n.612-19317A>T
c.3632T>A (p.Val1211Glu)
c.3275T>A (p.Val1092Glu)
2g.166228879C>ACA349064247SCN1A-AS1,SCN9Ac.4018G>T (p.Val1340Leu)
c.3862G>T (p.Val1288Leu)
c.3985G>T (p.Val1329Leu)
n.612-19316C>A
c.3631G>T (p.Val1211Leu)
c.3274G>T (p.Val1092Leu)
2g.166228879C>GCA349064245SCN1A-AS1,SCN9Ac.4018G>C (p.Val1340Leu)
c.3862G>C (p.Val1288Leu)
c.3985G>C (p.Val1329Leu)
n.612-19316C>G
c.3631G>C (p.Val1211Leu)
c.3274G>C (p.Val1092Leu)
2g.166228879C>TCA349064243SCN1A-AS1,SCN9Ac.4018G>A (p.Val1340Ile)
c.3862G>A (p.Val1288Ile)
c.3985G>A (p.Val1329Ile)
n.612-19316C>T
c.3631G>A (p.Val1211Ile)
c.3274G>A (p.Val1092Ile)
 gnomAD v4
2g.166228880T>ACA429899351SCN1A-AS1,SCN9Ac.4017A>T (p.Gly1339=)
c.3861A>T (p.Gly1287=)
c.3984A>T (p.Gly1328=)
n.612-19315T>A
c.3630A>T (p.Gly1210=)
c.3273A>T (p.Gly1091=)
2g.166228880T>CCA429899352SCN1A-AS1,SCN9Ac.4017A>G (p.Gly1339=)
c.3861A>G (p.Gly1287=)
c.3984A>G (p.Gly1328=)
n.612-19315T>C
c.3630A>G (p.Gly1210=)
c.3273A>G (p.Gly1091=)
2g.166228880T>GCA429899353SCN1A-AS1,SCN9Ac.4017A>C (p.Gly1339=)
c.3861A>C (p.Gly1287=)
c.3984A>C (p.Gly1328=)
n.612-19315T>G
c.3630A>C (p.Gly1210=)
c.3273A>C (p.Gly1091=)
2g.166228881C>ACA349064250SCN1A-AS1,SCN9Ac.4016G>T (p.Gly1339Val)
c.3860G>T (p.Gly1287Val)
c.3983G>T (p.Gly1328Val)
n.612-19314C>A
c.3629G>T (p.Gly1210Val)
c.3272G>T (p.Gly1091Val)
2g.166228881C=CA1304943692SCN1A-AS1,SCN9Ac.4016G= (p.Gly1339=)
c.3860G= (p.Gly1287=)
c.3983G= (p.Gly1328=)
n.612-19314C=
c.3629G= (p.Gly1210=)
c.3272G= (p.Gly1091=)
2g.166228881C>GCA349064251SCN1A-AS1,SCN9Ac.4016G>C (p.Gly1339Ala)
c.3860G>C (p.Gly1287Ala)
c.3983G>C (p.Gly1328Ala)
n.612-19314C>G
c.3629G>C (p.Gly1210Ala)
c.3272G>C (p.Gly1091Ala)
2g.166228881C>TCA59810333SCN1A-AS1,SCN9Ac.4016G>A (p.Gly1339Glu)
c.3860G>A (p.Gly1287Glu)
c.3983G>A (p.Gly1328Glu)
n.612-19314C>T
c.3629G>A (p.Gly1210Glu)
c.3272G>A (p.Gly1091Glu)
 dbSNP gnomAD v4 COSMIC COSMIC
2g.166228882C>ACA349064252SCN1A-AS1,SCN9Ac.4015G>T (p.Gly1339Ter)
c.3859G>T (p.Gly1287Ter)
c.3982G>T (p.Gly1328Ter)
n.612-19313C>A
c.3628G>T (p.Gly1210Ter)
c.3271G>T (p.Gly1091Ter)
 dbSNP
2g.166228882C=CA1304943693SCN1A-AS1,SCN9Ac.4015G= (p.Gly1339=)
c.3859G= (p.Gly1287=)
c.3982G= (p.Gly1328=)
n.612-19313C=
c.3628G= (p.Gly1210=)
c.3271G= (p.Gly1091=)
2g.166228882C>GCA349064253SCN1A-AS1,SCN9Ac.4015G>C (p.Gly1339Arg)
c.3859G>C (p.Gly1287Arg)
c.3982G>C (p.Gly1328Arg)
n.612-19313C>G
c.3628G>C (p.Gly1210Arg)
c.3271G>C (p.Gly1091Arg)
2g.166228882C>TCA349064254SCN1A-AS1,SCN9Ac.4015G>A (p.Gly1339Arg)
c.3859G>A (p.Gly1287Arg)
c.3982G>A (p.Gly1328Arg)
n.612-19313C>T
c.3628G>A (p.Gly1210Arg)
c.3271G>A (p.Gly1091Arg)

Number of alleles fetched