Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166238139_166238148delCA1304949960SCN1A-AS1,SCN9Ac.3748_3757del (p.Tyr1250IlefsTer12)
c.3715_3724del (p.Tyr1239IlefsTer12)
n.612-10056_612-10047del
c.3361_3370del (p.Tyr1121IlefsTer12)
c.3004_3013del (p.Tyr1002IlefsTer12)
 dbSNP
2g.166238148A>CCA429900716SCN1A-AS1,SCN9Ac.3747T>G (p.Gly1249=)
c.3714T>G (p.Gly1238=)
n.612-10047A>C
c.3360T>G (p.Gly1120=)
c.3003T>G (p.Gly1001=)
2g.166238148A>GCA429900717SCN1A-AS1,SCN9Ac.3747T>C (p.Gly1249=)
c.3714T>C (p.Gly1238=)
n.612-10047A>G
c.3360T>C (p.Gly1120=)
c.3003T>C (p.Gly1001=)
2g.166238148A>TCA429900718SCN1A-AS1,SCN9Ac.3747T>A (p.Gly1249=)
c.3714T>A (p.Gly1238=)
n.612-10047A>T
c.3360T>A (p.Gly1120=)
c.3003T>A (p.Gly1001=)
2g.166238149C>ACA349068573SCN1A-AS1,SCN9Ac.3746G>T (p.Gly1249Val)
c.3713G>T (p.Gly1238Val)
n.612-10046C>A
c.3359G>T (p.Gly1120Val)
c.3002G>T (p.Gly1001Val)
2g.166238149C>GCA349068574SCN1A-AS1,SCN9Ac.3746G>C (p.Gly1249Ala)
c.3713G>C (p.Gly1238Ala)
n.612-10046C>G
c.3359G>C (p.Gly1120Ala)
c.3002G>C (p.Gly1001Ala)
2g.166238149C>TCA349068576SCN1A-AS1,SCN9Ac.3746G>A (p.Gly1249Asp)
c.3713G>A (p.Gly1238Asp)
n.612-10046C>T
c.3359G>A (p.Gly1120Asp)
c.3002G>A (p.Gly1001Asp)
2g.166238153_166238163delCA2586970374SCN1A-AS1,SCN9Ac.3736_3746del (p.Ile1246LeufsTer2)
c.3703_3713del (p.Ile1235LeufsTer2)
n.612-10042_612-10032del
c.3349_3359del (p.Ile1117LeufsTer2)
c.2992_3002del (p.Ile998LeufsTer2)
 gnomAD v4
2g.166238150C>ACA349068577SCN1A-AS1,SCN9Ac.3745G>T (p.Gly1249Cys)
c.3712G>T (p.Gly1238Cys)
n.612-10045C>A
c.3358G>T (p.Gly1120Cys)
c.3001G>T (p.Gly1001Cys)
 gnomAD v4
2g.166238150C>GCA349068580SCN1A-AS1,SCN9Ac.3745G>C (p.Gly1249Arg)
c.3712G>C (p.Gly1238Arg)
n.612-10045C>G
c.3358G>C (p.Gly1120Arg)
c.3001G>C (p.Gly1001Arg)
2g.166238150C>TCA349068578SCN1A-AS1,SCN9Ac.3745G>A (p.Gly1249Ser)
c.3712G>A (p.Gly1238Ser)
n.612-10045C>T
c.3358G>A (p.Gly1120Ser)
c.3001G>A (p.Gly1001Ser)
2g.166238151A>CCA349068582SCN1A-AS1,SCN9Ac.3744T>G (p.Tyr1248Ter)
c.3711T>G (p.Tyr1237Ter)
n.612-10044A>C
c.3357T>G (p.Tyr1119Ter)
c.3000T>G (p.Tyr1000Ter)
2g.166238151A>GCA429900719SCN1A-AS1,SCN9Ac.3744T>C (p.Tyr1248=)
c.3711T>C (p.Tyr1237=)
n.612-10044A>G
c.3357T>C (p.Tyr1119=)
c.3000T>C (p.Tyr1000=)
 ClinVar COSMIC
2g.166238151A>TCA349068584SCN1A-AS1,SCN9Ac.3744T>A (p.Tyr1248Ter)
c.3711T>A (p.Tyr1237Ter)
n.612-10044A>T
c.3357T>A (p.Tyr1119Ter)
c.3000T>A (p.Tyr1000Ter)
2g.166238152T>ACA349068585SCN1A-AS1,SCN9Ac.3743A>T (p.Tyr1248Phe)
c.3710A>T (p.Tyr1237Phe)
n.612-10043T>A
c.3356A>T (p.Tyr1119Phe)
c.2999A>T (p.Tyr1000Phe)
2g.166238152T>CCA349068588SCN1A-AS1,SCN9Ac.3743A>G (p.Tyr1248Cys)
c.3710A>G (p.Tyr1237Cys)
n.612-10043T>C
c.3356A>G (p.Tyr1119Cys)
c.2999A>G (p.Tyr1000Cys)
 gnomAD v4
2g.166238152T>GCA349068589SCN1A-AS1,SCN9Ac.3743A>C (p.Tyr1248Ser)
c.3710A>C (p.Tyr1237Ser)
n.612-10043T>G
c.3356A>C (p.Tyr1119Ser)
c.2999A>C (p.Tyr1000Ser)
2g.166238153A=CA1304949967SCN1A-AS1,SCN9Ac.3742T= (p.Tyr1248=)
c.3709T= (p.Tyr1237=)
n.612-10042A=
c.3355T= (p.Tyr1119=)
c.2998T= (p.Tyr1000=)
2g.166238153A>CCA349068591SCN1A-AS1,SCN9Ac.3742T>G (p.Tyr1248Asp)
c.3709T>G (p.Tyr1237Asp)
n.612-10042A>C
c.3355T>G (p.Tyr1119Asp)
c.2998T>G (p.Tyr1000Asp)
2g.166238153A>GCA349068593SCN1A-AS1,SCN9Ac.3742T>C (p.Tyr1248His)
c.3709T>C (p.Tyr1237His)
n.612-10042A>G
c.3355T>C (p.Tyr1119His)
c.2998T>C (p.Tyr1000His)
 dbSNP
2g.166238153A>TCA349068595SCN1A-AS1,SCN9Ac.3742T>A (p.Tyr1248Asn)
c.3709T>A (p.Tyr1237Asn)
n.612-10042A>T
c.3355T>A (p.Tyr1119Asn)
c.2998T>A (p.Tyr1000Asn)
2g.166238154T>ACA429900720SCN1A-AS1,SCN9Ac.3741A>T (p.Ala1247=)
c.3708A>T (p.Ala1236=)
n.612-10041T>A
c.3354A>T (p.Ala1118=)
c.2997A>T (p.Ala999=)
 ClinVar dbSNP
2g.166238154T>CCA429900721SCN1A-AS1,SCN9Ac.3741A>G (p.Ala1247=)
c.3708A>G (p.Ala1236=)
n.612-10041T>C
c.3354A>G (p.Ala1118=)
c.2997A>G (p.Ala999=)
2g.166238154T>GCA429900722SCN1A-AS1,SCN9Ac.3741A>C (p.Ala1247=)
c.3708A>C (p.Ala1236=)
n.612-10041T>G
c.3354A>C (p.Ala1118=)
c.2997A>C (p.Ala999=)
2g.166238155G>ACA349068596SCN1A-AS1,SCN9Ac.3740C>T (p.Ala1247Val)
c.3707C>T (p.Ala1236Val)
n.612-10040G>A
c.3353C>T (p.Ala1118Val)
c.2996C>T (p.Ala999Val)
2g.166238155G>CCA349068598SCN1A-AS1,SCN9Ac.3740C>G (p.Ala1247Gly)
c.3707C>G (p.Ala1236Gly)
n.612-10040G>C
c.3353C>G (p.Ala1118Gly)
c.2996C>G (p.Ala999Gly)
2g.166238155G=CA1304949968SCN1A-AS1,SCN9Ac.3740C= (p.Ala1247=)
c.3707C= (p.Ala1236=)
n.612-10040G=
c.3353C= (p.Ala1118=)
c.2996C= (p.Ala999=)
2g.166238155G>TCA349068600SCN1A-AS1,SCN9Ac.3740C>A (p.Ala1247Glu)
c.3707C>A (p.Ala1236Glu)
n.612-10040G>T
c.3353C>A (p.Ala1118Glu)
c.2996C>A (p.Ala999Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.166238156C>ACA349068603SCN1A-AS1,SCN9Ac.3739G>T (p.Ala1247Ser)
c.3706G>T (p.Ala1236Ser)
n.612-10039C>A
c.3352G>T (p.Ala1118Ser)
c.2995G>T (p.Ala999Ser)
 COSMIC COSMIC
2g.166238156C>GCA349068604SCN1A-AS1,SCN9Ac.3739G>C (p.Ala1247Pro)
c.3706G>C (p.Ala1236Pro)
n.612-10039C>G
c.3352G>C (p.Ala1118Pro)
c.2995G>C (p.Ala999Pro)
2g.166238156C>TCA349068602SCN1A-AS1,SCN9Ac.3739G>A (p.Ala1247Thr)
c.3706G>A (p.Ala1236Thr)
n.612-10039C>T
c.3352G>A (p.Ala1118Thr)
c.2995G>A (p.Ala999Thr)
2g.166238157_166238160dupCA2740095795SCN1A-AS1,SCN9Ac.3736_3739dup (p.Ala1247AspfsTer6)
c.3703_3706dup (p.Ala1236AspfsTer6)
n.612-10038_612-10035dup
c.3349_3352dup (p.Ala1118AspfsTer6)
c.2992_2995dup (p.Ala999AspfsTer6)
 ClinVar
2g.166238157T>ACA429900723SCN1A-AS1,SCN9Ac.3738A>T (p.Ile1246=)
c.3705A>T (p.Ile1235=)
n.612-10038T>A
c.3351A>T (p.Ile1117=)
c.2994A>T (p.Ile998=)
2g.166238157T>CCA349068607SCN1A-AS1,SCN9Ac.3738A>G (p.Ile1246Met)
c.3705A>G (p.Ile1235Met)
n.612-10038T>C
c.3351A>G (p.Ile1117Met)
c.2994A>G (p.Ile998Met)
2g.166238157T>GCA429900724SCN1A-AS1,SCN9Ac.3738A>C (p.Ile1246=)
c.3705A>C (p.Ile1235=)
n.612-10038T>G
c.3351A>C (p.Ile1117=)
c.2994A>C (p.Ile998=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166238157T=CA1304949969SCN1A-AS1,SCN9Ac.3738A= (p.Ile1246=)
c.3705A= (p.Ile1235=)
n.612-10038T=
c.3351A= (p.Ile1117=)
c.2994A= (p.Ile998=)
2g.166238158A=CA1304949970SCN1A-AS1,SCN9Ac.3737T= (p.Ile1246=)
c.3704T= (p.Ile1235=)
n.612-10037A=
c.3350T= (p.Ile1117=)
c.2993T= (p.Ile998=)
2g.166238158A>CCA349068608SCN1A-AS1,SCN9Ac.3737T>G (p.Ile1246Arg)
c.3704T>G (p.Ile1235Arg)
n.612-10037A>C
c.3350T>G (p.Ile1117Arg)
c.2993T>G (p.Ile998Arg)
 ClinVar dbSNP
2g.166238158A>GCA349068610SCN1A-AS1,SCN9Ac.3737T>C (p.Ile1246Thr)
c.3704T>C (p.Ile1235Thr)
n.612-10037A>G
c.3350T>C (p.Ile1117Thr)
c.2993T>C (p.Ile998Thr)
 gnomAD v4
2g.166238158A>TCA349068609SCN1A-AS1,SCN9Ac.3737T>A (p.Ile1246Lys)
c.3704T>A (p.Ile1235Lys)
n.612-10037A>T
c.3350T>A (p.Ile1117Lys)
c.2993T>A (p.Ile998Lys)
 dbSNP COSMIC COSMIC
2g.166238159T>ACA349068612SCN1A-AS1,SCN9Ac.3736A>T (p.Ile1246Leu)
c.3703A>T (p.Ile1235Leu)
n.612-10036T>A
c.3349A>T (p.Ile1117Leu)
c.2992A>T (p.Ile998Leu)
2g.166238159T>CCA349068615SCN1A-AS1,SCN9Ac.3736A>G (p.Ile1246Val)
c.3703A>G (p.Ile1235Val)
n.612-10036T>C
c.3349A>G (p.Ile1117Val)
c.2992A>G (p.Ile998Val)
2g.166238159T>GCA349068614SCN1A-AS1,SCN9Ac.3736A>C (p.Ile1246Leu)
c.3703A>C (p.Ile1235Leu)
n.612-10036T>G
c.3349A>C (p.Ile1117Leu)
c.2992A>C (p.Ile998Leu)
2g.166238160C>ACA349068616SCN1A-AS1,SCN9Ac.3735G>T (p.Trp1245Cys)
c.3702G>T (p.Trp1234Cys)
n.612-10035C>A
c.3348G>T (p.Trp1116Cys)
c.2991G>T (p.Trp997Cys)
2g.166238160C=CA1304949971SCN1A-AS1,SCN9Ac.3735G= (p.Trp1245=)
c.3702G= (p.Trp1234=)
n.612-10035C=
c.3348G= (p.Trp1116=)
c.2991G= (p.Trp997=)
2g.166238160C>GCA349068618SCN1A-AS1,SCN9Ac.3735G>C (p.Trp1245Cys)
c.3702G>C (p.Trp1234Cys)
n.612-10035C>G
c.3348G>C (p.Trp1116Cys)
c.2991G>C (p.Trp997Cys)
2g.166238160C>TCA349068619SCN1A-AS1,SCN9Ac.3735G>A (p.Trp1245Ter)
c.3702G>A (p.Trp1234Ter)
n.612-10035C>T
c.3348G>A (p.Trp1116Ter)
c.2991G>A (p.Trp997Ter)
 dbSNP COSMIC COSMIC
2g.166238161C>ACA349068622SCN1A-AS1,SCN9Ac.3734G>T (p.Trp1245Leu)
c.3701G>T (p.Trp1234Leu)
n.612-10034C>A
c.3347G>T (p.Trp1116Leu)
c.2990G>T (p.Trp997Leu)
2g.166238161C>GCA349068623SCN1A-AS1,SCN9Ac.3734G>C (p.Trp1245Ser)
c.3701G>C (p.Trp1234Ser)
n.612-10034C>G
c.3347G>C (p.Trp1116Ser)
c.2990G>C (p.Trp997Ser)
2g.166238161C>TCA349068624SCN1A-AS1,SCN9Ac.3734G>A (p.Trp1245Ter)
c.3701G>A (p.Trp1234Ter)
n.612-10034C>T
c.3347G>A (p.Trp1116Ter)
c.2990G>A (p.Trp997Ter)
 gnomAD v4 COSMIC COSMIC

Number of alleles fetched