Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.166238070_166238099delinsTAAAATGTACTCAAAAGTACCTACATCAACCA1304949932SCN1A-AS1,SCN9Ac.3796_3801+24delinsGTTGATGTAGGTACTTTTGAGTACATTTTA
c.3763_3768+24delinsGTTGATGTAGGTACTTTTGAGTACATTTTA
n.612-10125_612-10096delinsTAAAATGTACTCAAAAGTACCTACATCAAC
c.3409_3414+24delinsGTTGATGTAGGTACTTTTGAGTACATTTTA
c.3052_3057+24delinsGTTGATGTAGGTACTTTTGAGTACATTTTA
2g.166238073_166238101delCA760189611SCN1A-AS1,SCN9Ac.3796_3801+23del
c.3763_3768+23del
n.612-10122_612-10094del
c.3409_3414+23del
c.3052_3057+23del
 ClinVar dbSNP gnomAD v4
2g.166238092A>CCA349068355SCN1A-AS1,SCN9Ac.3801+2T>G (n.3801+2T>G)
c.3768+2T>G (n.3768+2T>G)
n.612-10103A>C
c.3414+2T>G (n.3414+2T>G)
c.3057+2T>G (n.3057+2T>G)
2g.166238092A>GCA349068357SCN1A-AS1,SCN9Ac.3801+2T>C (n.3801+2T>C)
c.3768+2T>C (n.3768+2T>C)
n.612-10103A>G
c.3414+2T>C (n.3414+2T>C)
c.3057+2T>C (n.3057+2T>C)
 gnomAD v4
2g.166238092A>TCA349068353SCN1A-AS1,SCN9Ac.3801+2T>A (n.3801+2T>A)
c.3768+2T>A (n.3768+2T>A)
n.612-10103A>T
c.3414+2T>A (n.3414+2T>A)
c.3057+2T>A (n.3057+2T>A)
2g.166238093C>ACA349068359SCN1A-AS1,SCN9Ac.3801+1G>T (n.3801+1G>T)
c.3768+1G>T (n.3768+1G>T)
n.612-10102C>A
c.3414+1G>T (n.3414+1G>T)
c.3057+1G>T (n.3057+1G>T)
2g.166238093C>GCA349068360SCN1A-AS1,SCN9Ac.3801+1G>C (n.3801+1G>C)
c.3768+1G>C (n.3768+1G>C)
n.612-10102C>G
c.3414+1G>C (n.3414+1G>C)
c.3057+1G>C (n.3057+1G>C)
2g.166238093C>TCA349068362SCN1A-AS1,SCN9Ac.3801+1G>A (n.3801+1G>A)
c.3768+1G>A (n.3768+1G>A)
n.612-10102C>T
c.3414+1G>A (n.3414+1G>A)
c.3057+1G>A (n.3057+1G>A)
 ClinVar dbSNP
2g.166238094A=CA1304949941SCN1A-AS1,SCN9Ac.3801T= (p.Asp1267=)
c.3768T= (p.Asp1256=)
n.612-10101A=
c.3414T= (p.Asp1138=)
c.3057T= (p.Asp1019=)
2g.166238094A>CCA349068364SCN1A-AS1,SCN9Ac.3801T>G (p.Asp1267Glu)
c.3768T>G (p.Asp1256Glu)
n.612-10101A>C
c.3414T>G (p.Asp1138Glu)
c.3057T>G (p.Asp1019Glu)
2g.166238094A>GCA1944009SCN1A-AS1,SCN9Ac.3801T>C (p.Asp1267=)
c.3768T>C (p.Asp1256=)
n.612-10101A>G
c.3414T>C (p.Asp1138=)
c.3057T>C (p.Asp1019=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166238094A>TCA349068366SCN1A-AS1,SCN9Ac.3801T>A (p.Asp1267Glu)
c.3768T>A (p.Asp1256Glu)
n.612-10101A>T
c.3414T>A (p.Asp1138Glu)
c.3057T>A (p.Asp1019Glu)
2g.166238095T>ACA349068367SCN1A-AS1,SCN9Ac.3800A>T (p.Asp1267Val)
c.3767A>T (p.Asp1256Val)
n.612-10100T>A
c.3413A>T (p.Asp1138Val)
c.3056A>T (p.Asp1019Val)
2g.166238095T>CCA349068369SCN1A-AS1,SCN9Ac.3800A>G (p.Asp1267Gly)
c.3767A>G (p.Asp1256Gly)
n.612-10100T>C
c.3413A>G (p.Asp1138Gly)
c.3056A>G (p.Asp1019Gly)
2g.166238095T>GCA59813646SCN1A-AS1,SCN9Ac.3800A>C (p.Asp1267Ala)
c.3767A>C (p.Asp1256Ala)
n.612-10100T>G
c.3413A>C (p.Asp1138Ala)
c.3056A>C (p.Asp1019Ala)
 ClinVar dbSNP gnomAD v4
2g.166238095T=CA1304949942SCN1A-AS1,SCN9Ac.3800A= (p.Asp1267=)
c.3767A= (p.Asp1256=)
n.612-10100T=
c.3413A= (p.Asp1138=)
c.3056A= (p.Asp1019=)
2g.166238096C>ACA349068371SCN1A-AS1,SCN9Ac.3799G>T (p.Asp1267Tyr)
c.3766G>T (p.Asp1256Tyr)
n.612-10099C>A
c.3412G>T (p.Asp1138Tyr)
c.3055G>T (p.Asp1019Tyr)
 gnomAD v4
2g.166238096C=CA1304949943SCN1A-AS1,SCN9Ac.3799G= (p.Asp1267=)
c.3766G= (p.Asp1256=)
n.612-10099C=
c.3412G= (p.Asp1138=)
c.3055G= (p.Asp1019=)
2g.166238096C>GCA349068373SCN1A-AS1,SCN9Ac.3799G>C (p.Asp1267His)
c.3766G>C (p.Asp1256His)
n.612-10099C>G
c.3412G>C (p.Asp1138His)
c.3055G>C (p.Asp1019His)
 dbSNP gnomAD v2 gnomAD v4
2g.166238096C>TCA349068374SCN1A-AS1,SCN9Ac.3799G>A (p.Asp1267Asn)
c.3766G>A (p.Asp1256Asn)
n.612-10099C>T
c.3412G>A (p.Asp1138Asn)
c.3055G>A (p.Asp1019Asn)
 gnomAD v4
2g.166238097A>CCA429900689SCN1A-AS1,SCN9Ac.3798T>G (p.Val1266=)
c.3765T>G (p.Val1255=)
n.612-10098A>C
c.3411T>G (p.Val1137=)
c.3054T>G (p.Val1018=)
 gnomAD v4
2g.166238097A>GCA429900688SCN1A-AS1,SCN9Ac.3798T>C (p.Val1266=)
c.3765T>C (p.Val1255=)
n.612-10098A>G
c.3411T>C (p.Val1137=)
c.3054T>C (p.Val1018=)
2g.166238097A>TCA429900687SCN1A-AS1,SCN9Ac.3798T>A (p.Val1266=)
c.3765T>A (p.Val1255=)
n.612-10098A>T
c.3411T>A (p.Val1137=)
c.3054T>A (p.Val1018=)
2g.166238098A>CCA349068376SCN1A-AS1,SCN9Ac.3797T>G (p.Val1266Gly)
c.3764T>G (p.Val1255Gly)
n.612-10097A>C
c.3410T>G (p.Val1137Gly)
c.3053T>G (p.Val1018Gly)
2g.166238098A>GCA349068377SCN1A-AS1,SCN9Ac.3797T>C (p.Val1266Ala)
c.3764T>C (p.Val1255Ala)
n.612-10097A>G
c.3410T>C (p.Val1137Ala)
c.3053T>C (p.Val1018Ala)
 gnomAD v4
2g.166238098A>TCA349068375SCN1A-AS1,SCN9Ac.3797T>A (p.Val1266Asp)
c.3764T>A (p.Val1255Asp)
n.612-10097A>T
c.3410T>A (p.Val1137Asp)
c.3053T>A (p.Val1018Asp)
2g.166238099C>ACA349068379SCN1A-AS1,SCN9Ac.3796G>T (p.Val1266Phe)
c.3763G>T (p.Val1255Phe)
n.612-10096C>A
c.3409G>T (p.Val1137Phe)
c.3052G>T (p.Val1018Phe)
 gnomAD v4
2g.166238099C>GCA349068381SCN1A-AS1,SCN9Ac.3796G>C (p.Val1266Leu)
c.3763G>C (p.Val1255Leu)
n.612-10096C>G
c.3409G>C (p.Val1137Leu)
c.3052G>C (p.Val1018Leu)
2g.166238099C>TCA349068382SCN1A-AS1,SCN9Ac.3796G>A (p.Val1266Ile)
c.3763G>A (p.Val1255Ile)
n.612-10096C>T
c.3409G>A (p.Val1137Ile)
c.3052G>A (p.Val1018Ile)
 ClinVar
2g.166238100A=CA1304949944SCN1A-AS1,SCN9Ac.3795T= (p.Ile1265=)
c.3762T= (p.Ile1254=)
n.612-10095A=
c.3408T= (p.Ile1136=)
c.3051T= (p.Ile1017=)
2g.166238100A>CCA349068383SCN1A-AS1,SCN9Ac.3795T>G (p.Ile1265Met)
c.3762T>G (p.Ile1254Met)
n.612-10095A>C
c.3408T>G (p.Ile1136Met)
c.3051T>G (p.Ile1017Met)
2g.166238100A>GCA429900690SCN1A-AS1,SCN9Ac.3795T>C (p.Ile1265=)
c.3762T>C (p.Ile1254=)
n.612-10095A>G
c.3408T>C (p.Ile1136=)
c.3051T>C (p.Ile1017=)
2g.166238100A>TCA1944010SCN1A-AS1,SCN9Ac.3795T>A (p.Ile1265=)
c.3762T>A (p.Ile1254=)
n.612-10095A>T
c.3408T>A (p.Ile1136=)
c.3051T>A (p.Ile1017=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166238101A>CCA349068390SCN1A-AS1,SCN9Ac.3794T>G (p.Ile1265Ser)
c.3761T>G (p.Ile1254Ser)
n.612-10094A>C
c.3407T>G (p.Ile1136Ser)
c.3050T>G (p.Ile1017Ser)
2g.166238101A>GCA349068387SCN1A-AS1,SCN9Ac.3794T>C (p.Ile1265Thr)
c.3761T>C (p.Ile1254Thr)
n.612-10094A>G
c.3407T>C (p.Ile1136Thr)
c.3050T>C (p.Ile1017Thr)
2g.166238101A>TCA349068388SCN1A-AS1,SCN9Ac.3794T>A (p.Ile1265Asn)
c.3761T>A (p.Ile1254Asn)
n.612-10094A>T
c.3407T>A (p.Ile1136Asn)
c.3050T>A (p.Ile1017Asn)
2g.166238102T>ACA349068392SCN1A-AS1,SCN9Ac.3793A>T (p.Ile1265Phe)
c.3760A>T (p.Ile1254Phe)
n.612-10093T>A
c.3406A>T (p.Ile1136Phe)
c.3049A>T (p.Ile1017Phe)
2g.166238102T>CCA349068393SCN1A-AS1,SCN9Ac.3793A>G (p.Ile1265Val)
c.3760A>G (p.Ile1254Val)
n.612-10093T>C
c.3406A>G (p.Ile1136Val)
c.3049A>G (p.Ile1017Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166238102T>GCA349068394SCN1A-AS1,SCN9Ac.3793A>C (p.Ile1265Leu)
c.3760A>C (p.Ile1254Leu)
n.612-10093T>G
c.3406A>C (p.Ile1136Leu)
c.3049A>C (p.Ile1017Leu)
2g.166238102T=CA1304949945SCN1A-AS1,SCN9Ac.3793A= (p.Ile1265=)
c.3760A= (p.Ile1254=)
n.612-10093T=
c.3406A= (p.Ile1136=)
c.3049A= (p.Ile1017=)
2g.166238103T>ACA429900692SCN1A-AS1,SCN9Ac.3792A>T (p.Leu1264=)
c.3759A>T (p.Leu1253=)
n.612-10092T>A
c.3405A>T (p.Leu1135=)
c.3048A>T (p.Leu1016=)
2g.166238103T>CCA429900694SCN1A-AS1,SCN9Ac.3792A>G (p.Leu1264=)
c.3759A>G (p.Leu1253=)
n.612-10092T>C
c.3405A>G (p.Leu1135=)
c.3048A>G (p.Leu1016=)
2g.166238103T>GCA429900693SCN1A-AS1,SCN9Ac.3792A>C (p.Leu1264=)
c.3759A>C (p.Leu1253=)
n.612-10092T>G
c.3405A>C (p.Leu1135=)
c.3048A>C (p.Leu1016=)
2g.166238104A>CCA349068395SCN1A-AS1,SCN9Ac.3791T>G (p.Leu1264Arg)
c.3758T>G (p.Leu1253Arg)
n.612-10091A>C
c.3404T>G (p.Leu1135Arg)
c.3047T>G (p.Leu1016Arg)
2g.166238104A>GCA349068397SCN1A-AS1,SCN9Ac.3791T>C (p.Leu1264Pro)
c.3758T>C (p.Leu1253Pro)
n.612-10091A>G
c.3404T>C (p.Leu1135Pro)
c.3047T>C (p.Leu1016Pro)
 gnomAD v4
2g.166238104A>TCA349068399SCN1A-AS1,SCN9Ac.3791T>A (p.Leu1264Gln)
c.3758T>A (p.Leu1253Gln)
n.612-10091A>T
c.3404T>A (p.Leu1135Gln)
c.3047T>A (p.Leu1016Gln)
2g.166238105G>ACA429900695SCN1A-AS1,SCN9Ac.3790C>T (p.Leu1264=)
c.3757C>T (p.Leu1253=)
n.612-10090G>A
c.3403C>T (p.Leu1135=)
c.3046C>T (p.Leu1016=)
2g.166238105G>CCA349068401SCN1A-AS1,SCN9Ac.3790C>G (p.Leu1264Val)
c.3757C>G (p.Leu1253Val)
n.612-10090G>C
c.3403C>G (p.Leu1135Val)
c.3046C>G (p.Leu1016Val)
2g.166238105G>TCA349068400SCN1A-AS1,SCN9Ac.3790C>A (p.Leu1264Ile)
c.3757C>A (p.Leu1253Ile)
n.612-10090G>T
c.3403C>A (p.Leu1135Ile)
c.3046C>A (p.Leu1016Ile)
2g.166238106G>ACA429900696SCN1A-AS1,SCN9Ac.3789C>T (p.Phe1263=)
c.3756C>T (p.Phe1252=)
n.612-10089G>A
c.3402C>T (p.Phe1134=)
c.3045C>T (p.Phe1015=)
2g.166238106G>CCA349068403SCN1A-AS1,SCN9Ac.3789C>G (p.Phe1263Leu)
c.3756C>G (p.Phe1252Leu)
n.612-10089G>C
c.3402C>G (p.Phe1134Leu)
c.3045C>G (p.Phe1015Leu)
2g.166238106G>TCA349068405SCN1A-AS1,SCN9Ac.3789C>A (p.Phe1263Leu)
c.3756C>A (p.Phe1252Leu)
n.612-10089G>T
c.3402C>A (p.Phe1134Leu)
c.3045C>A (p.Phe1015Leu)
2g.166238107A>CCA349068407SCN1A-AS1,SCN9Ac.3788T>G (p.Phe1263Cys)
c.3755T>G (p.Phe1252Cys)
n.612-10088A>C
c.3401T>G (p.Phe1134Cys)
c.3044T>G (p.Phe1015Cys)
2g.166238107A>GCA349068408SCN1A-AS1,SCN9Ac.3788T>C (p.Phe1263Ser)
c.3755T>C (p.Phe1252Ser)
n.612-10088A>G
c.3401T>C (p.Phe1134Ser)
c.3044T>C (p.Phe1015Ser)
2g.166238107A>TCA349068410SCN1A-AS1,SCN9Ac.3788T>A (p.Phe1263Tyr)
c.3755T>A (p.Phe1252Tyr)
n.612-10088A>T
c.3401T>A (p.Phe1134Tyr)
c.3044T>A (p.Phe1015Tyr)
2g.166238108A>CCA349068412SCN1A-AS1,SCN9Ac.3787T>G (p.Phe1263Val)
c.3754T>G (p.Phe1252Val)
n.612-10087A>C
c.3400T>G (p.Phe1134Val)
c.3043T>G (p.Phe1015Val)
2g.166238108A>GCA349068414SCN1A-AS1,SCN9Ac.3787T>C (p.Phe1263Leu)
c.3754T>C (p.Phe1252Leu)
n.612-10087A>G
c.3400T>C (p.Phe1134Leu)
c.3043T>C (p.Phe1015Leu)
2g.166238108A>TCA349068415SCN1A-AS1,SCN9Ac.3787T>A (p.Phe1263Ile)
c.3754T>A (p.Phe1252Ile)
n.612-10087A>T
c.3400T>A (p.Phe1134Ile)
c.3043T>A (p.Phe1015Ile)
2g.166238109A>CCA349068417SCN1A-AS1,SCN9Ac.3786T>G (p.Asp1262Glu)
c.3753T>G (p.Asp1251Glu)
n.612-10086A>C
c.3399T>G (p.Asp1133Glu)
c.3042T>G (p.Asp1014Glu)
2g.166238109A>GCA429900697SCN1A-AS1,SCN9Ac.3786T>C (p.Asp1262=)
c.3753T>C (p.Asp1251=)
n.612-10086A>G
c.3399T>C (p.Asp1133=)
c.3042T>C (p.Asp1014=)
2g.166238109A>TCA349068419SCN1A-AS1,SCN9Ac.3786T>A (p.Asp1262Glu)
c.3753T>A (p.Asp1251Glu)
n.612-10086A>T
c.3399T>A (p.Asp1133Glu)
c.3042T>A (p.Asp1014Glu)
2g.166238110T>ACA349068421SCN1A-AS1,SCN9Ac.3785A>T (p.Asp1262Val)
c.3752A>T (p.Asp1251Val)
n.612-10085T>A
c.3398A>T (p.Asp1133Val)
c.3041A>T (p.Asp1014Val)
2g.166238110T>CCA349068422SCN1A-AS1,SCN9Ac.3785A>G (p.Asp1262Gly)
c.3752A>G (p.Asp1251Gly)
n.612-10085T>C
c.3398A>G (p.Asp1133Gly)
c.3041A>G (p.Asp1014Gly)
2g.166238110T>GCA349068424SCN1A-AS1,SCN9Ac.3785A>C (p.Asp1262Ala)
c.3752A>C (p.Asp1251Ala)
n.612-10085T>G
c.3398A>C (p.Asp1133Ala)
c.3041A>C (p.Asp1014Ala)
2g.166238111C>ACA349068428SCN1A-AS1,SCN9Ac.3784G>T (p.Asp1262Tyr)
c.3751G>T (p.Asp1251Tyr)
n.612-10084C>A
c.3397G>T (p.Asp1133Tyr)
c.3040G>T (p.Asp1014Tyr)
2g.166238111C>GCA349068427SCN1A-AS1,SCN9Ac.3784G>C (p.Asp1262His)
c.3751G>C (p.Asp1251His)
n.612-10084C>G
c.3397G>C (p.Asp1133His)
c.3040G>C (p.Asp1014His)
2g.166238111C>TCA349068425SCN1A-AS1,SCN9Ac.3784G>A (p.Asp1262Asn)
c.3751G>A (p.Asp1251Asn)
n.612-10084C>T
c.3397G>A (p.Asp1133Asn)
c.3040G>A (p.Asp1014Asn)
2g.166238112C>ACA429900699SCN1A-AS1,SCN9Ac.3783G>T (p.Leu1261=)
c.3750G>T (p.Leu1250=)
n.612-10083C>A
c.3396G>T (p.Leu1132=)
c.3039G>T (p.Leu1013=)
2g.166238112C>GCA429900700SCN1A-AS1,SCN9Ac.3783G>C (p.Leu1261=)
c.3750G>C (p.Leu1250=)
n.612-10083C>G
c.3396G>C (p.Leu1132=)
c.3039G>C (p.Leu1013=)
2g.166238112C>TCA429900701SCN1A-AS1,SCN9Ac.3783G>A (p.Leu1261=)
c.3750G>A (p.Leu1250=)
n.612-10083C>T
c.3396G>A (p.Leu1132=)
c.3039G>A (p.Leu1013=)
2g.166238113A>CCA349068431SCN1A-AS1,SCN9Ac.3782T>G (p.Leu1261Arg)
c.3749T>G (p.Leu1250Arg)
n.612-10082A>C
c.3395T>G (p.Leu1132Arg)
c.3038T>G (p.Leu1013Arg)
2g.166238113A>GCA349068433SCN1A-AS1,SCN9Ac.3782T>C (p.Leu1261Pro)
c.3749T>C (p.Leu1250Pro)
n.612-10082A>G
c.3395T>C (p.Leu1132Pro)
c.3038T>C (p.Leu1013Pro)
 gnomAD v4
2g.166238113A>TCA349068434SCN1A-AS1,SCN9Ac.3782T>A (p.Leu1261Gln)
c.3749T>A (p.Leu1250Gln)
n.612-10082A>T
c.3395T>A (p.Leu1132Gln)
c.3038T>A (p.Leu1013Gln)
2g.166238114G>ACA429900702SCN1A-AS1,SCN9Ac.3781C>T (p.Leu1261=)
c.3748C>T (p.Leu1250=)
n.612-10081G>A
c.3394C>T (p.Leu1132=)
c.3037C>T (p.Leu1013=)
 ClinVar dbSNP gnomAD v4
2g.166238114G>CCA349068436SCN1A-AS1,SCN9Ac.3781C>G (p.Leu1261Val)
c.3748C>G (p.Leu1250Val)
n.612-10081G>C
c.3394C>G (p.Leu1132Val)
c.3037C>G (p.Leu1013Val)
2g.166238114G=CA1304949946SCN1A-AS1,SCN9Ac.3781C= (p.Leu1261=)
c.3748C= (p.Leu1250=)
n.612-10081G=
c.3394C= (p.Leu1132=)
c.3037C= (p.Leu1013=)
2g.166238114G>TCA349068438SCN1A-AS1,SCN9Ac.3781C>A (p.Leu1261Met)
c.3748C>A (p.Leu1250Met)
n.612-10081G>T
c.3394C>A (p.Leu1132Met)
c.3037C>A (p.Leu1013Met)
2g.166238115C>ACA349068440SCN1A-AS1,SCN9Ac.3780G>T (p.Trp1260Cys)
c.3747G>T (p.Trp1249Cys)
n.612-10080C>A
c.3393G>T (p.Trp1131Cys)
c.3036G>T (p.Trp1012Cys)
2g.166238115C=CA1304949947SCN1A-AS1,SCN9Ac.3780G= (p.Trp1260=)
c.3747G= (p.Trp1249=)
n.612-10080C=
c.3393G= (p.Trp1131=)
c.3036G= (p.Trp1012=)
2g.166238115C>GCA349068441SCN1A-AS1,SCN9Ac.3780G>C (p.Trp1260Cys)
c.3747G>C (p.Trp1249Cys)
n.612-10080C>G
c.3393G>C (p.Trp1131Cys)
c.3036G>C (p.Trp1012Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.166238115C>TCA349068443SCN1A-AS1,SCN9Ac.3780G>A (p.Trp1260Ter)
c.3747G>A (p.Trp1249Ter)
n.612-10080C>T
c.3393G>A (p.Trp1131Ter)
c.3036G>A (p.Trp1012Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166238116C>ACA349068444SCN1A-AS1,SCN9Ac.3779G>T (p.Trp1260Leu)
c.3746G>T (p.Trp1249Leu)
n.612-10079C>A
c.3392G>T (p.Trp1131Leu)
c.3035G>T (p.Trp1012Leu)
2g.166238116C>GCA349068445SCN1A-AS1,SCN9Ac.3779G>C (p.Trp1260Ser)
c.3746G>C (p.Trp1249Ser)
n.612-10079C>G
c.3392G>C (p.Trp1131Ser)
c.3035G>C (p.Trp1012Ser)
2g.166238116C>TCA349068447SCN1A-AS1,SCN9Ac.3779G>A (p.Trp1260Ter)
c.3746G>A (p.Trp1249Ter)
n.612-10079C>T
c.3392G>A (p.Trp1131Ter)
c.3035G>A (p.Trp1012Ter)
2g.166238117A>CCA349068449SCN1A-AS1,SCN9Ac.3778T>G (p.Trp1260Gly)
c.3745T>G (p.Trp1249Gly)
n.612-10078A>C
c.3391T>G (p.Trp1131Gly)
c.3034T>G (p.Trp1012Gly)
2g.166238117A>GCA349068450SCN1A-AS1,SCN9Ac.3778T>C (p.Trp1260Arg)
c.3745T>C (p.Trp1249Arg)
n.612-10078A>G
c.3391T>C (p.Trp1131Arg)
c.3034T>C (p.Trp1012Arg)
2g.166238117A>TCA349068452SCN1A-AS1,SCN9Ac.3778T>A (p.Trp1260Arg)
c.3745T>A (p.Trp1249Arg)
n.612-10078A>T
c.3391T>A (p.Trp1131Arg)
c.3034T>A (p.Trp1012Arg)
2g.166238118A=CA1304949948SCN1A-AS1,SCN9Ac.3777T= (p.Cys1259=)
c.3744T= (p.Cys1248=)
n.612-10077A=
c.3390T= (p.Cys1130=)
c.3033T= (p.Cys1011=)
2g.166238118A>CCA349068456SCN1A-AS1,SCN9Ac.3777T>G (p.Cys1259Trp)
c.3744T>G (p.Cys1248Trp)
n.612-10077A>C
c.3390T>G (p.Cys1130Trp)
c.3033T>G (p.Cys1011Trp)
2g.166238118A>GCA1944011SCN1A-AS1,SCN9Ac.3777T>C (p.Cys1259=)
c.3744T>C (p.Cys1248=)
n.612-10077A>G
c.3390T>C (p.Cys1130=)
c.3033T>C (p.Cys1011=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.166238118A>TCA349068454SCN1A-AS1,SCN9Ac.3777T>A (p.Cys1259Ter)
c.3744T>A (p.Cys1248Ter)
n.612-10077A>T
c.3390T>A (p.Cys1130Ter)
c.3033T>A (p.Cys1011Ter)
 dbSNP gnomAD v4
2g.166238119C>ACA349068458SCN1A-AS1,SCN9Ac.3776G>T (p.Cys1259Phe)
c.3743G>T (p.Cys1248Phe)
n.612-10076C>A
c.3389G>T (p.Cys1130Phe)
c.3032G>T (p.Cys1011Phe)
 ClinVar dbSNP
2g.166238119C=CA1304949949SCN1A-AS1,SCN9Ac.3776G= (p.Cys1259=)
c.3743G= (p.Cys1248=)
n.612-10076C=
c.3389G= (p.Cys1130=)
c.3032G= (p.Cys1011=)
2g.166238119C>GCA349068459SCN1A-AS1,SCN9Ac.3776G>C (p.Cys1259Ser)
c.3743G>C (p.Cys1248Ser)
n.612-10076C>G
c.3389G>C (p.Cys1130Ser)
c.3032G>C (p.Cys1011Ser)
2g.166238119C>TCA349068461SCN1A-AS1,SCN9Ac.3776G>A (p.Cys1259Tyr)
c.3743G>A (p.Cys1248Tyr)
n.612-10076C>T
c.3389G>A (p.Cys1130Tyr)
c.3032G>A (p.Cys1011Tyr)
2g.166238120A>CCA349068463SCN1A-AS1,SCN9Ac.3775T>G (p.Cys1259Gly)
c.3742T>G (p.Cys1248Gly)
n.612-10075A>C
c.3388T>G (p.Cys1130Gly)
c.3031T>G (p.Cys1011Gly)
2g.166238120A>GCA349068465SCN1A-AS1,SCN9Ac.3775T>C (p.Cys1259Arg)
c.3742T>C (p.Cys1248Arg)
n.612-10075A>G
c.3388T>C (p.Cys1130Arg)
c.3031T>C (p.Cys1011Arg)
2g.166238120A>TCA349068467SCN1A-AS1,SCN9Ac.3775T>A (p.Cys1259Ser)
c.3742T>A (p.Cys1248Ser)
n.612-10075A>T
c.3388T>A (p.Cys1130Ser)
c.3031T>A (p.Cys1011Ser)
2g.166238120_166238123dupCA2577144886SCN1A-AS1,SCN9Ac.3772_3775dup (p.Cys1259LeufsTer10)
c.3739_3742dup (p.Cys1248LeufsTer10)
n.612-10075_612-10072dup
c.3385_3388dup (p.Cys1130LeufsTer10)
c.3028_3031dup (p.Cys1011LeufsTer10)
2g.166238121C>ACA349068470SCN1A-AS1,SCN9Ac.3774G>T (p.Trp1258Cys)
c.3741G>T (p.Trp1247Cys)
n.612-10074C>A
c.3387G>T (p.Trp1129Cys)
c.3030G>T (p.Trp1010Cys)
2g.166238121C=CA1304949950SCN1A-AS1,SCN9Ac.3774G= (p.Trp1258=)
c.3741G= (p.Trp1247=)
n.612-10074C=
c.3387G= (p.Trp1129=)
c.3030G= (p.Trp1010=)
2g.166238121C>GCA349068469SCN1A-AS1,SCN9Ac.3774G>C (p.Trp1258Cys)
c.3741G>C (p.Trp1247Cys)
n.612-10074C>G
c.3387G>C (p.Trp1129Cys)
c.3030G>C (p.Trp1010Cys)
2g.166238121C>TCA1944012SCN1A-AS1,SCN9Ac.3774G>A (p.Trp1258Ter)
c.3741G>A (p.Trp1247Ter)
n.612-10074C>T
c.3387G>A (p.Trp1129Ter)
c.3030G>A (p.Trp1010Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166238122C>ACA349068473SCN1A-AS1,SCN9Ac.3773G>T (p.Trp1258Leu)
c.3740G>T (p.Trp1247Leu)
n.612-10073C>A
c.3386G>T (p.Trp1129Leu)
c.3029G>T (p.Trp1010Leu)
 dbSNP
2g.166238122C=CA1304949951SCN1A-AS1,SCN9Ac.3773G= (p.Trp1258=)
c.3740G= (p.Trp1247=)
n.612-10073C=
c.3386G= (p.Trp1129=)
c.3029G= (p.Trp1010=)
2g.166238122C>GCA349068474SCN1A-AS1,SCN9Ac.3773G>C (p.Trp1258Ser)
c.3740G>C (p.Trp1247Ser)
n.612-10073C>G
c.3386G>C (p.Trp1129Ser)
c.3029G>C (p.Trp1010Ser)
2g.166238122C>TCA349068475SCN1A-AS1,SCN9Ac.3773G>A (p.Trp1258Ter)
c.3740G>A (p.Trp1247Ter)
n.612-10073C>T
c.3386G>A (p.Trp1129Ter)
c.3029G>A (p.Trp1010Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.166238123A>CCA349068478SCN1A-AS1,SCN9Ac.3772T>G (p.Trp1258Gly)
c.3739T>G (p.Trp1247Gly)
n.612-10072A>C
c.3385T>G (p.Trp1129Gly)
c.3028T>G (p.Trp1010Gly)
2g.166238123A>GCA349068479SCN1A-AS1,SCN9Ac.3772T>C (p.Trp1258Arg)
c.3739T>C (p.Trp1247Arg)
n.612-10072A>G
c.3385T>C (p.Trp1129Arg)
c.3028T>C (p.Trp1010Arg)
2g.166238123A>TCA349068480SCN1A-AS1,SCN9Ac.3772T>A (p.Trp1258Arg)
c.3739T>A (p.Trp1247Arg)
n.612-10072A>T
c.3385T>A (p.Trp1129Arg)
c.3028T>A (p.Trp1010Arg)
2g.166238124G>ACA429900703SCN1A-AS1,SCN9Ac.3771C>T (p.Ala1257=)
c.3738C>T (p.Ala1246=)
n.612-10071G>A
c.3384C>T (p.Ala1128=)
c.3027C>T (p.Ala1009=)
2g.166238124G>CCA429900704SCN1A-AS1,SCN9Ac.3771C>G (p.Ala1257=)
c.3738C>G (p.Ala1246=)
n.612-10071G>C
c.3384C>G (p.Ala1128=)
c.3027C>G (p.Ala1009=)
 COSMIC COSMIC
2g.166238124G>TCA429900705SCN1A-AS1,SCN9Ac.3771C>A (p.Ala1257=)
c.3738C>A (p.Ala1246=)
n.612-10071G>T
c.3384C>A (p.Ala1128=)
c.3027C>A (p.Ala1009=)
2g.166238125G>ACA349068483SCN1A-AS1,SCN9Ac.3770C>T (p.Ala1257Val)
c.3737C>T (p.Ala1246Val)
n.612-10070G>A
c.3383C>T (p.Ala1128Val)
c.3026C>T (p.Ala1009Val)
 gnomAD v4
2g.166238125G>CCA349068486SCN1A-AS1,SCN9Ac.3770C>G (p.Ala1257Gly)
c.3737C>G (p.Ala1246Gly)
n.612-10070G>C
c.3383C>G (p.Ala1128Gly)
c.3026C>G (p.Ala1009Gly)
2g.166238125G>TCA349068484SCN1A-AS1,SCN9Ac.3770C>A (p.Ala1257Asp)
c.3737C>A (p.Ala1246Asp)
n.612-10070G>T
c.3383C>A (p.Ala1128Asp)
c.3026C>A (p.Ala1009Asp)
2g.166238126C>ACA349068488SCN1A-AS1,SCN9Ac.3769G>T (p.Ala1257Ser)
c.3736G>T (p.Ala1246Ser)
n.612-10069C>A
c.3382G>T (p.Ala1128Ser)
c.3025G>T (p.Ala1009Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.166238126C=CA1304949952SCN1A-AS1,SCN9Ac.3769G= (p.Ala1257=)
c.3736G= (p.Ala1246=)
n.612-10069C=
c.3382G= (p.Ala1128=)
c.3025G= (p.Ala1009=)
2g.166238126C>GCA349068490SCN1A-AS1,SCN9Ac.3769G>C (p.Ala1257Pro)
c.3736G>C (p.Ala1246Pro)
n.612-10069C>G
c.3382G>C (p.Ala1128Pro)
c.3025G>C (p.Ala1009Pro)
2g.166238126C>TCA349068491SCN1A-AS1,SCN9Ac.3769G>A (p.Ala1257Thr)
c.3736G>A (p.Ala1246Thr)
n.612-10069C>T
c.3382G>A (p.Ala1128Thr)
c.3025G>A (p.Ala1009Thr)
2g.166238127A=CA1304949953SCN1A-AS1,SCN9Ac.3768T= (p.Asn1256=)
c.3735T= (p.Asn1245=)
n.612-10068A=
c.3381T= (p.Asn1127=)
c.3024T= (p.Asn1008=)
2g.166238127A>CCA349068492SCN1A-AS1,SCN9Ac.3768T>G (p.Asn1256Lys)
c.3735T>G (p.Asn1245Lys)
n.612-10068A>C
c.3381T>G (p.Asn1127Lys)
c.3024T>G (p.Asn1008Lys)
2g.166238127A>GCA429900706SCN1A-AS1,SCN9Ac.3768T>C (p.Asn1256=)
c.3735T>C (p.Asn1245=)
n.612-10068A>G
c.3381T>C (p.Asn1127=)
c.3024T>C (p.Asn1008=)
 dbSNP
2g.166238127A>TCA349068494SCN1A-AS1,SCN9Ac.3768T>A (p.Asn1256Lys)
c.3735T>A (p.Asn1245Lys)
n.612-10068A>T
c.3381T>A (p.Asn1127Lys)
c.3024T>A (p.Asn1008Lys)
2g.166238128T>ACA349068496SCN1A-AS1,SCN9Ac.3767A>T (p.Asn1256Ile)
c.3734A>T (p.Asn1245Ile)
n.612-10067T>A
c.3380A>T (p.Asn1127Ile)
c.3023A>T (p.Asn1008Ile)
2g.166238128T>CCA201784SCN1A-AS1,SCN9Ac.3767A>G (p.Asn1256Ser)
c.3734A>G (p.Asn1245Ser)
n.612-10067T>C
c.3380A>G (p.Asn1127Ser)
c.3023A>G (p.Asn1008Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166238128T>GCA349068499SCN1A-AS1,SCN9Ac.3767A>C (p.Asn1256Thr)
c.3734A>C (p.Asn1245Thr)
n.612-10067T>G
c.3380A>C (p.Asn1127Thr)
c.3023A>C (p.Asn1008Thr)
2g.166238128T=CA1304949954SCN1A-AS1,SCN9Ac.3767A= (p.Asn1256=)
c.3734A= (p.Asn1245=)
n.612-10067T=
c.3380A= (p.Asn1127=)
c.3023A= (p.Asn1008=)
2g.166238129T>ACA349068501SCN1A-AS1,SCN9Ac.3766A>T (p.Asn1256Tyr)
c.3733A>T (p.Asn1245Tyr)
n.612-10066T>A
c.3379A>T (p.Asn1127Tyr)
c.3022A>T (p.Asn1008Tyr)
2g.166238129T>CCA349068502SCN1A-AS1,SCN9Ac.3766A>G (p.Asn1256Asp)
c.3733A>G (p.Asn1245Asp)
n.612-10066T>C
c.3379A>G (p.Asn1127Asp)
c.3022A>G (p.Asn1008Asp)
2g.166238129T>GCA349068504SCN1A-AS1,SCN9Ac.3766A>C (p.Asn1256His)
c.3733A>C (p.Asn1245His)
n.612-10066T>G
c.3379A>C (p.Asn1127His)
c.3022A>C (p.Asn1008His)
2g.166238129_166238130delinsTGCA1304949955SCN1A-AS1,SCN9Ac.3765_3766delinsCA (p.Thr1255=)
c.3732_3733delinsCA (p.Thr1244=)
n.612-10066_612-10065delinsTG
c.3378_3379delinsCA (p.Thr1126=)
c.3021_3022delinsCA (p.Thr1007=)
2g.166238130G>ACA429900707SCN1A-AS1,SCN9Ac.3765C>T (p.Thr1255=)
c.3732C>T (p.Thr1244=)
n.612-10065G>A
c.3378C>T (p.Thr1126=)
c.3021C>T (p.Thr1007=)
2g.166238130G>CCA429900708SCN1A-AS1,SCN9Ac.3765C>G (p.Thr1255=)
c.3732C>G (p.Thr1244=)
n.612-10065G>C
c.3378C>G (p.Thr1126=)
c.3021C>G (p.Thr1007=)
2g.166238130G>TCA429900709SCN1A-AS1,SCN9Ac.3765C>A (p.Thr1255=)
c.3732C>A (p.Thr1244=)
n.612-10065G>T
c.3378C>A (p.Thr1126=)
c.3021C>A (p.Thr1007=)
 gnomAD v4
2g.166238131delCA59813651SCN1A-AS1,SCN9Ac.3765del (p.Asn1256MetfsTer9)
c.3732del (p.Asn1245MetfsTer9)
n.612-10064del
c.3378del (p.Asn1127MetfsTer9)
c.3021del (p.Asn1008MetfsTer9)
 dbSNP
2g.166238131G>ACA349068505SCN1A-AS1,SCN9Ac.3764C>T (p.Thr1255Ile)
c.3731C>T (p.Thr1244Ile)
n.612-10064G>A
c.3377C>T (p.Thr1126Ile)
c.3020C>T (p.Thr1007Ile)
2g.166238131G>CCA349068508SCN1A-AS1,SCN9Ac.3764C>G (p.Thr1255Ser)
c.3731C>G (p.Thr1244Ser)
n.612-10064G>C
c.3377C>G (p.Thr1126Ser)
c.3020C>G (p.Thr1007Ser)
2g.166238131G>TCA349068506SCN1A-AS1,SCN9Ac.3764C>A (p.Thr1255Asn)
c.3731C>A (p.Thr1244Asn)
n.612-10064G>T
c.3377C>A (p.Thr1126Asn)
c.3020C>A (p.Thr1007Asn)
2g.166238132T>ACA349068510SCN1A-AS1,SCN9Ac.3763A>T (p.Thr1255Ser)
c.3730A>T (p.Thr1244Ser)
n.612-10063T>A
c.3376A>T (p.Thr1126Ser)
c.3019A>T (p.Thr1007Ser)
2g.166238132T>CCA349068513SCN1A-AS1,SCN9Ac.3763A>G (p.Thr1255Ala)
c.3730A>G (p.Thr1244Ala)
n.612-10063T>C
c.3376A>G (p.Thr1126Ala)
c.3019A>G (p.Thr1007Ala)
 gnomAD v4
2g.166238132T>GCA349068512SCN1A-AS1,SCN9Ac.3763A>C (p.Thr1255Pro)
c.3730A>C (p.Thr1244Pro)
n.612-10063T>G
c.3376A>C (p.Thr1126Pro)
c.3019A>C (p.Thr1007Pro)
2g.166238133G>ACA429900710SCN1A-AS1,SCN9Ac.3762C>T (p.Phe1254=)
c.3729C>T (p.Phe1243=)
n.612-10062G>A
c.3375C>T (p.Phe1125=)
c.3018C>T (p.Phe1006=)
2g.166238133G>CCA349068514SCN1A-AS1,SCN9Ac.3762C>G (p.Phe1254Leu)
c.3729C>G (p.Phe1243Leu)
n.612-10062G>C
c.3375C>G (p.Phe1125Leu)
c.3018C>G (p.Phe1006Leu)
2g.166238133G>TCA349068515SCN1A-AS1,SCN9Ac.3762C>A (p.Phe1254Leu)
c.3729C>A (p.Phe1243Leu)
n.612-10062G>T
c.3375C>A (p.Phe1125Leu)
c.3018C>A (p.Phe1006Leu)
2g.166238133_166238135delinsGAACA1304949956SCN1A-AS1,SCN9Ac.3760_3762delinsTTC (p.Phe1254=)
c.3727_3729delinsTTC (p.Phe1243=)
n.612-10062_612-10060delinsGAA
c.3373_3375delinsTTC (p.Phe1125=)
c.3016_3018delinsTTC (p.Phe1006=)
2g.166238134A>CCA349068518SCN1A-AS1,SCN9Ac.3761T>G (p.Phe1254Cys)
c.3728T>G (p.Phe1243Cys)
n.612-10061A>C
c.3374T>G (p.Phe1125Cys)
c.3017T>G (p.Phe1006Cys)
2g.166238134A>GCA349068519SCN1A-AS1,SCN9Ac.3761T>C (p.Phe1254Ser)
c.3728T>C (p.Phe1243Ser)
n.612-10061A>G
c.3374T>C (p.Phe1125Ser)
c.3017T>C (p.Phe1006Ser)
2g.166238134A>TCA349068521SCN1A-AS1,SCN9Ac.3761T>A (p.Phe1254Tyr)
c.3728T>A (p.Phe1243Tyr)
n.612-10061A>T
c.3374T>A (p.Phe1125Tyr)
c.3017T>A (p.Phe1006Tyr)
2g.166238135_166238136delCA1304949957SCN1A-AS1,SCN9Ac.3760_3761del (p.Phe1254HisfsTer13)
c.3727_3728del (p.Phe1243HisfsTer13)
n.612-10060_612-10059del
c.3373_3374del (p.Phe1125HisfsTer13)
c.3016_3017del (p.Phe1006HisfsTer13)
 dbSNP gnomAD v4
2g.166238135A>CCA349068522SCN1A-AS1,SCN9Ac.3760T>G (p.Phe1254Val)
c.3727T>G (p.Phe1243Val)
n.612-10060A>C
c.3373T>G (p.Phe1125Val)
c.3016T>G (p.Phe1006Val)
2g.166238135A>GCA349068524SCN1A-AS1,SCN9Ac.3760T>C (p.Phe1254Leu)
c.3727T>C (p.Phe1243Leu)
n.612-10060A>G
c.3373T>C (p.Phe1125Leu)
c.3016T>C (p.Phe1006Leu)
2g.166238135A>TCA349068525SCN1A-AS1,SCN9Ac.3760T>A (p.Phe1254Ile)
c.3727T>A (p.Phe1243Ile)
n.612-10060A>T
c.3373T>A (p.Phe1125Ile)
c.3016T>A (p.Phe1006Ile)
2g.166238136A=CA1304949958SCN1A-AS1,SCN9Ac.3759T= (p.Tyr1253=)
c.3726T= (p.Tyr1242=)
n.612-10059A=
c.3372T= (p.Tyr1124=)
c.3015T= (p.Tyr1005=)
2g.166238136A>CCA349068527SCN1A-AS1,SCN9Ac.3759T>G (p.Tyr1253Ter)
c.3726T>G (p.Tyr1242Ter)
n.612-10059A>C
c.3372T>G (p.Tyr1124Ter)
c.3015T>G (p.Tyr1005Ter)
2g.166238136A>GCA1944013SCN1A-AS1,SCN9Ac.3759T>C (p.Tyr1253=)
c.3726T>C (p.Tyr1242=)
n.612-10059A>G
c.3372T>C (p.Tyr1124=)
c.3015T>C (p.Tyr1005=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166238136A>TCA349068529SCN1A-AS1,SCN9Ac.3759T>A (p.Tyr1253Ter)
c.3726T>A (p.Tyr1242Ter)
n.612-10059A>T
c.3372T>A (p.Tyr1124Ter)
c.3015T>A (p.Tyr1005Ter)
2g.166238137T>ACA349068535SCN1A-AS1,SCN9Ac.3758A>T (p.Tyr1253Phe)
c.3725A>T (p.Tyr1242Phe)
n.612-10058T>A
c.3371A>T (p.Tyr1124Phe)
c.3014A>T (p.Tyr1005Phe)
2g.166238137T>CCA349068533SCN1A-AS1,SCN9Ac.3758A>G (p.Tyr1253Cys)
c.3725A>G (p.Tyr1242Cys)
n.612-10058T>C
c.3371A>G (p.Tyr1124Cys)
c.3014A>G (p.Tyr1005Cys)
2g.166238137T>GCA349068531SCN1A-AS1,SCN9Ac.3758A>C (p.Tyr1253Ser)
c.3725A>C (p.Tyr1242Ser)
n.612-10058T>G
c.3371A>C (p.Tyr1124Ser)
c.3014A>C (p.Tyr1005Ser)
2g.166238137_166238147delinsTATGTTTTATACA1304949959SCN1A-AS1,SCN9Ac.3748_3758delinsTATAAAACATA (p.Tyr1250=)
c.3715_3725delinsTATAAAACATA (p.Tyr1239=)
n.612-10058_612-10048delinsTATGTTTTATA
c.3361_3371delinsTATAAAACATA (p.Tyr1121=)
c.3004_3014delinsTATAAAACATA (p.Tyr1002=)
2g.166238138A>CCA349068536SCN1A-AS1,SCN9Ac.3757T>G (p.Tyr1253Asp)
c.3724T>G (p.Tyr1242Asp)
n.612-10057A>C
c.3370T>G (p.Tyr1124Asp)
c.3013T>G (p.Tyr1005Asp)
2g.166238138A>GCA349068538SCN1A-AS1,SCN9Ac.3757T>C (p.Tyr1253His)
c.3724T>C (p.Tyr1242His)
n.612-10057A>G
c.3370T>C (p.Tyr1124His)
c.3013T>C (p.Tyr1005His)
2g.166238138A>TCA349068540SCN1A-AS1,SCN9Ac.3757T>A (p.Tyr1253Asn)
c.3724T>A (p.Tyr1242Asn)
n.612-10057A>T
c.3370T>A (p.Tyr1124Asn)
c.3013T>A (p.Tyr1005Asn)
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.166238139T>ACA429900713SCN1A-AS1,SCN9Ac.3756A>T (p.Thr1252=)
c.3723A>T (p.Thr1241=)
n.612-10056T>A
c.3369A>T (p.Thr1123=)
c.3012A>T (p.Thr1004=)
2g.166238139T>CCA429900712SCN1A-AS1,SCN9Ac.3756A>G (p.Thr1252=)
c.3723A>G (p.Thr1241=)
n.612-10056T>C
c.3369A>G (p.Thr1123=)
c.3012A>G (p.Thr1004=)
2g.166238139T>GCA429900711SCN1A-AS1,SCN9Ac.3756A>C (p.Thr1252=)
c.3723A>C (p.Thr1241=)
n.612-10056T>G
c.3369A>C (p.Thr1123=)
c.3012A>C (p.Thr1004=)
2g.166238140G>ACA349068542SCN1A-AS1,SCN9Ac.3755C>T (p.Thr1252Ile)
c.3722C>T (p.Thr1241Ile)
n.612-10055G>A
c.3368C>T (p.Thr1123Ile)
c.3011C>T (p.Thr1004Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166238140G>CCA349068544SCN1A-AS1,SCN9Ac.3755C>G (p.Thr1252Arg)
c.3722C>G (p.Thr1241Arg)
n.612-10055G>C
c.3368C>G (p.Thr1123Arg)
c.3011C>G (p.Thr1004Arg)
2g.166238140G=CA1304949961SCN1A-AS1,SCN9Ac.3755C= (p.Thr1252=)
c.3722C= (p.Thr1241=)
n.612-10055G=
c.3368C= (p.Thr1123=)
c.3011C= (p.Thr1004=)
2g.166238140G>TCA349068545SCN1A-AS1,SCN9Ac.3755C>A (p.Thr1252Lys)
c.3722C>A (p.Thr1241Lys)
n.612-10055G>T
c.3368C>A (p.Thr1123Lys)
c.3011C>A (p.Thr1004Lys)
2g.166238141T>ACA349068546SCN1A-AS1,SCN9Ac.3754A>T (p.Thr1252Ser)
c.3721A>T (p.Thr1241Ser)
n.612-10054T>A
c.3367A>T (p.Thr1123Ser)
c.3010A>T (p.Thr1004Ser)
2g.166238141T>CCA10612526SCN1A-AS1,SCN9Ac.3754A>G (p.Thr1252Ala)
c.3721A>G (p.Thr1241Ala)
n.612-10054T>C
c.3367A>G (p.Thr1123Ala)
c.3010A>G (p.Thr1004Ala)
 ClinVar dbSNP
2g.166238141T>GCA349068547SCN1A-AS1,SCN9Ac.3754A>C (p.Thr1252Pro)
c.3721A>C (p.Thr1241Pro)
n.612-10054T>G
c.3367A>C (p.Thr1123Pro)
c.3010A>C (p.Thr1004Pro)
2g.166238141T=CA1304949962SCN1A-AS1,SCN9Ac.3754A= (p.Thr1252=)
c.3721A= (p.Thr1241=)
n.612-10054T=
c.3367A= (p.Thr1123=)
c.3010A= (p.Thr1004=)
2g.166238142T>ACA349068549SCN1A-AS1,SCN9Ac.3753A>T (p.Lys1251Asn)
c.3720A>T (p.Lys1240Asn)
n.612-10053T>A
c.3366A>T (p.Lys1122Asn)
c.3009A>T (p.Lys1003Asn)
2g.166238142T>CCA429900714SCN1A-AS1,SCN9Ac.3753A>G (p.Lys1251=)
c.3720A>G (p.Lys1240=)
n.612-10053T>C
c.3366A>G (p.Lys1122=)
c.3009A>G (p.Lys1003=)
 gnomAD v4
2g.166238142T>GCA349068550SCN1A-AS1,SCN9Ac.3753A>C (p.Lys1251Asn)
c.3720A>C (p.Lys1240Asn)
n.612-10053T>G
c.3366A>C (p.Lys1122Asn)
c.3009A>C (p.Lys1003Asn)
2g.166238143T>ACA349068553SCN1A-AS1,SCN9Ac.3752A>T (p.Lys1251Ile)
c.3719A>T (p.Lys1240Ile)
n.612-10052T>A
c.3365A>T (p.Lys1122Ile)
c.3008A>T (p.Lys1003Ile)
2g.166238143T>CCA349068552SCN1A-AS1,SCN9Ac.3752A>G (p.Lys1251Arg)
c.3719A>G (p.Lys1240Arg)
n.612-10052T>C
c.3365A>G (p.Lys1122Arg)
c.3008A>G (p.Lys1003Arg)
 ClinVar dbSNP
2g.166238143T>GCA349068551SCN1A-AS1,SCN9Ac.3752A>C (p.Lys1251Thr)
c.3719A>C (p.Lys1240Thr)
n.612-10052T>G
c.3365A>C (p.Lys1122Thr)
c.3008A>C (p.Lys1003Thr)
2g.166238143T=CA1304949963SCN1A-AS1,SCN9Ac.3752A= (p.Lys1251=)
c.3719A= (p.Lys1240=)
n.612-10052T=
c.3365A= (p.Lys1122=)
c.3008A= (p.Lys1003=)
2g.166238144T>ACA349068554SCN1A-AS1,SCN9Ac.3751A>T (p.Lys1251Ter)
c.3718A>T (p.Lys1240Ter)
n.612-10051T>A
c.3364A>T (p.Lys1122Ter)
c.3007A>T (p.Lys1003Ter)
 dbSNP
2g.166238144T>CCA349068555SCN1A-AS1,SCN9Ac.3751A>G (p.Lys1251Glu)
c.3718A>G (p.Lys1240Glu)
n.612-10051T>C
c.3364A>G (p.Lys1122Glu)
c.3007A>G (p.Lys1003Glu)
2g.166238144T>GCA349068557SCN1A-AS1,SCN9Ac.3751A>C (p.Lys1251Gln)
c.3718A>C (p.Lys1240Gln)
n.612-10051T>G
c.3364A>C (p.Lys1122Gln)
c.3007A>C (p.Lys1003Gln)
2g.166238144T=CA1304949964SCN1A-AS1,SCN9Ac.3751A= (p.Lys1251=)
c.3718A= (p.Lys1240=)
n.612-10051T=
c.3364A= (p.Lys1122=)
c.3007A= (p.Lys1003=)
2g.166238145A=CA1304949965SCN1A-AS1,SCN9Ac.3750T= (p.Tyr1250=)
c.3717T= (p.Tyr1239=)
n.612-10050A=
c.3363T= (p.Tyr1121=)
c.3006T= (p.Tyr1002=)
2g.166238145A>CCA349068559SCN1A-AS1,SCN9Ac.3750T>G (p.Tyr1250Ter)
c.3717T>G (p.Tyr1239Ter)
n.612-10050A>C
c.3363T>G (p.Tyr1121Ter)
c.3006T>G (p.Tyr1002Ter)
2g.166238145A>GCA429900715SCN1A-AS1,SCN9Ac.3750T>C (p.Tyr1250=)
c.3717T>C (p.Tyr1239=)
n.612-10050A>G
c.3363T>C (p.Tyr1121=)
c.3006T>C (p.Tyr1002=)
 dbSNP
2g.166238145A>TCA349068561SCN1A-AS1,SCN9Ac.3750T>A (p.Tyr1250Ter)
c.3717T>A (p.Tyr1239Ter)
n.612-10050A>T
c.3363T>A (p.Tyr1121Ter)
c.3006T>A (p.Tyr1002Ter)
2g.166238146T>ACA349068566SCN1A-AS1,SCN9Ac.3749A>T (p.Tyr1250Phe)
c.3716A>T (p.Tyr1239Phe)
n.612-10049T>A
c.3362A>T (p.Tyr1121Phe)
c.3005A>T (p.Tyr1002Phe)
2g.166238146T>CCA349068564SCN1A-AS1,SCN9Ac.3749A>G (p.Tyr1250Cys)
c.3716A>G (p.Tyr1239Cys)
n.612-10049T>C
c.3362A>G (p.Tyr1121Cys)
c.3005A>G (p.Tyr1002Cys)
 dbSNP
2g.166238146T>GCA349068562SCN1A-AS1,SCN9Ac.3749A>C (p.Tyr1250Ser)
c.3716A>C (p.Tyr1239Ser)
n.612-10049T>G
c.3362A>C (p.Tyr1121Ser)
c.3005A>C (p.Tyr1002Ser)
2g.166238146T=CA1304949966SCN1A-AS1,SCN9Ac.3749A= (p.Tyr1250=)
c.3716A= (p.Tyr1239=)
n.612-10049T=
c.3362A= (p.Tyr1121=)
c.3005A= (p.Tyr1002=)
2g.166238147A>CCA349068568SCN1A-AS1,SCN9Ac.3748T>G (p.Tyr1250Asp)
c.3715T>G (p.Tyr1239Asp)
n.612-10048A>C
c.3361T>G (p.Tyr1121Asp)
c.3004T>G (p.Tyr1002Asp)
2g.166238147A>GCA349068569SCN1A-AS1,SCN9Ac.3748T>C (p.Tyr1250His)
c.3715T>C (p.Tyr1239His)
n.612-10048A>G
c.3361T>C (p.Tyr1121His)
c.3004T>C (p.Tyr1002His)
2g.166238147A>TCA349068570SCN1A-AS1,SCN9Ac.3748T>A (p.Tyr1250Asn)
c.3715T>A (p.Tyr1239Asn)
n.612-10048A>T
c.3361T>A (p.Tyr1121Asn)
c.3004T>A (p.Tyr1002Asn)
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
2g.166238162A>CCA349068630SCN1A-AS1,SCN9Ac.3733T>G (p.Trp1245Gly)
c.3700T>G (p.Trp1234Gly)
n.612-10033A>C
c.3346T>G (p.Trp1116Gly)
c.2989T>G (p.Trp997Gly)
2g.166238162A>GCA349068627SCN1A-AS1,SCN9Ac.3733T>C (p.Trp1245Arg)
c.3700T>C (p.Trp1234Arg)
n.612-10033A>G
c.3346T>C (p.Trp1116Arg)
c.2989T>C (p.Trp997Arg)
2g.166238162A>TCA349068628SCN1A-AS1,SCN9Ac.3733T>A (p.Trp1245Arg)
c.3700T>A (p.Trp1234Arg)
n.612-10033A>T
c.3346T>A (p.Trp1116Arg)
c.2989T>A (p.Trp997Arg)
2g.166238163T>ACA349068632SCN1A-AS1,SCN9Ac.3732A>T (p.Lys1244Asn)
c.3699A>T (p.Lys1233Asn)
n.612-10032T>A
c.3345A>T (p.Lys1115Asn)
c.2988A>T (p.Lys996Asn)
2g.166238163T>CCA429900725SCN1A-AS1,SCN9Ac.3732A>G (p.Lys1244=)
c.3699A>G (p.Lys1233=)
n.612-10032T>C
c.3345A>G (p.Lys1115=)
c.2988A>G (p.Lys996=)
2g.166238163T>GCA349068633SCN1A-AS1,SCN9Ac.3732A>C (p.Lys1244Asn)
c.3699A>C (p.Lys1233Asn)
n.612-10032T>G
c.3345A>C (p.Lys1115Asn)
c.2988A>C (p.Lys996Asn)
2g.166238164T>ACA349068635SCN1A-AS1,SCN9Ac.3731A>T (p.Lys1244Ile)
c.3698A>T (p.Lys1233Ile)
n.612-10031T>A
c.3344A>T (p.Lys1115Ile)
c.2987A>T (p.Lys996Ile)
2g.166238164T>CCA349068637SCN1A-AS1,SCN9Ac.3731A>G (p.Lys1244Arg)
c.3698A>G (p.Lys1233Arg)
n.612-10031T>C
c.3344A>G (p.Lys1115Arg)
c.2987A>G (p.Lys996Arg)
2g.166238164T>GCA349068638SCN1A-AS1,SCN9Ac.3731A>C (p.Lys1244Thr)
c.3698A>C (p.Lys1233Thr)
n.612-10031T>G
c.3344A>C (p.Lys1115Thr)
c.2987A>C (p.Lys996Thr)
2g.166238165T>ACA349068641SCN1A-AS1,SCN9Ac.3730A>T (p.Lys1244Ter)
c.3697A>T (p.Lys1233Ter)
n.612-10030T>A
c.3343A>T (p.Lys1115Ter)
c.2986A>T (p.Lys996Ter)
 dbSNP
2g.166238165T>CCA349068643SCN1A-AS1,SCN9Ac.3730A>G (p.Lys1244Glu)
c.3697A>G (p.Lys1233Glu)
n.612-10030T>C
c.3343A>G (p.Lys1115Glu)
c.2986A>G (p.Lys996Glu)
2g.166238165T>GCA349068642SCN1A-AS1,SCN9Ac.3730A>C (p.Lys1244Gln)
c.3697A>C (p.Lys1233Gln)
n.612-10030T>G
c.3343A>C (p.Lys1115Gln)
c.2986A>C (p.Lys996Gln)
2g.166238165T=CA1304949972SCN1A-AS1,SCN9Ac.3730A= (p.Lys1244=)
c.3697A= (p.Lys1233=)
n.612-10030T=
c.3343A= (p.Lys1115=)
c.2986A= (p.Lys996=)
2g.166238166T>ACA429900727SCN1A-AS1,SCN9Ac.3729A>T (p.Leu1243=)
c.3696A>T (p.Leu1232=)
n.612-10029T>A
c.3342A>T (p.Leu1114=)
c.2985A>T (p.Leu995=)
2g.166238166T>CCA429900728SCN1A-AS1,SCN9Ac.3729A>G (p.Leu1243=)
c.3696A>G (p.Leu1232=)
n.612-10029T>C
c.3342A>G (p.Leu1114=)
c.2985A>G (p.Leu995=)
2g.166238166T>GCA429900726SCN1A-AS1,SCN9Ac.3729A>C (p.Leu1243=)
c.3696A>C (p.Leu1232=)
n.612-10029T>G
c.3342A>C (p.Leu1114=)
c.2985A>C (p.Leu995=)
2g.166238167A>CCA349068644SCN1A-AS1,SCN9Ac.3728T>G (p.Leu1243Arg)
c.3695T>G (p.Leu1232Arg)
n.612-10028A>C
c.3341T>G (p.Leu1114Arg)
c.2984T>G (p.Leu995Arg)
2g.166238167A>GCA349068645SCN1A-AS1,SCN9Ac.3728T>C (p.Leu1243Pro)
c.3695T>C (p.Leu1232Pro)
n.612-10028A>G
c.3341T>C (p.Leu1114Pro)
c.2984T>C (p.Leu995Pro)
2g.166238167A>TCA349068646SCN1A-AS1,SCN9Ac.3728T>A (p.Leu1243Gln)
c.3695T>A (p.Leu1232Gln)
n.612-10028A>T
c.3341T>A (p.Leu1114Gln)
c.2984T>A (p.Leu995Gln)
 COSMIC COSMIC
2g.166238168G>ACA429900729SCN1A-AS1,SCN9Ac.3727C>T (p.Leu1243=)
c.3694C>T (p.Leu1232=)
n.612-10027G>A
c.3340C>T (p.Leu1114=)
c.2983C>T (p.Leu995=)
2g.166238168G>CCA349068647SCN1A-AS1,SCN9Ac.3727C>G (p.Leu1243Val)
c.3694C>G (p.Leu1232Val)
n.612-10027G>C
c.3340C>G (p.Leu1114Val)
c.2983C>G (p.Leu995Val)
2g.166238168G>TCA349068649SCN1A-AS1,SCN9Ac.3727C>A (p.Leu1243Ile)
c.3694C>A (p.Leu1232Ile)
n.612-10027G>T
c.3340C>A (p.Leu1114Ile)
c.2983C>A (p.Leu995Ile)
2g.166238168_166238169delinsGACA1304949973SCN1A-AS1,SCN9Ac.3726_3727delinsTC (p.Leu1242=)
c.3693_3694delinsTC (p.Leu1231=)
n.612-10027_612-10026delinsGA
c.3339_3340delinsTC (p.Leu1113=)
c.2982_2983delinsTC (p.Leu994=)
2g.166238169A>CCA429900732SCN1A-AS1,SCN9Ac.3726T>G (p.Leu1242=)
c.3693T>G (p.Leu1231=)
n.612-10026A>C
c.3339T>G (p.Leu1113=)
c.2982T>G (p.Leu994=)
2g.166238169A>GCA429900731SCN1A-AS1,SCN9Ac.3726T>C (p.Leu1242=)
c.3693T>C (p.Leu1231=)
n.612-10026A>G
c.3339T>C (p.Leu1113=)
c.2982T>C (p.Leu994=)
2g.166238169A>TCA429900730SCN1A-AS1,SCN9Ac.3726T>A (p.Leu1242=)
c.3693T>A (p.Leu1231=)
n.612-10026A>T
c.3339T>A (p.Leu1113=)
c.2982T>A (p.Leu994=)
2g.166238170delCA760189787SCN1A-AS1,SCN9Ac.3726del (p.Leu1243Ter)
c.3693del (p.Leu1232Ter)
n.612-10025del
c.3339del (p.Leu1114Ter)
c.2982del (p.Leu995Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.166238170A=CA1304949974SCN1A-AS1,SCN9Ac.3725T= (p.Leu1242=)
c.3692T= (p.Leu1231=)
n.612-10025A=
c.3338T= (p.Leu1113=)
c.2981T= (p.Leu994=)
2g.166238170A>CCA349068651SCN1A-AS1,SCN9Ac.3725T>G (p.Leu1242Arg)
c.3692T>G (p.Leu1231Arg)
n.612-10025A>C
c.3338T>G (p.Leu1113Arg)
c.2981T>G (p.Leu994Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.166238170A>GCA349068652SCN1A-AS1,SCN9Ac.3725T>C (p.Leu1242Pro)
c.3692T>C (p.Leu1231Pro)
n.612-10025A>G
c.3338T>C (p.Leu1113Pro)
c.2981T>C (p.Leu994Pro)
2g.166238170A>TCA349068654SCN1A-AS1,SCN9Ac.3725T>A (p.Leu1242His)
c.3692T>A (p.Leu1231His)
n.612-10025A>T
c.3338T>A (p.Leu1113His)
c.2981T>A (p.Leu994His)
2g.166238171G>ACA349068656SCN1A-AS1,SCN9Ac.3724C>T (p.Leu1242Phe)
c.3691C>T (p.Leu1231Phe)
n.612-10024G>A
c.3337C>T (p.Leu1113Phe)
c.2980C>T (p.Leu994Phe)
2g.166238171G>CCA349068658SCN1A-AS1,SCN9Ac.3724C>G (p.Leu1242Val)
c.3691C>G (p.Leu1231Val)
n.612-10024G>C
c.3337C>G (p.Leu1113Val)
c.2980C>G (p.Leu994Val)
 ClinVar
2g.166238171G>TCA349068659SCN1A-AS1,SCN9Ac.3724C>A (p.Leu1242Ile)
c.3691C>A (p.Leu1231Ile)
n.612-10024G>T
c.3337C>A (p.Leu1113Ile)
c.2980C>A (p.Leu994Ile)
2g.166238172C>ACA349068661SCN1A-AS1,SCN9Ac.3723G>T (p.Met1241Ile)
c.3690G>T (p.Met1230Ile)
n.612-10023C>A
c.3336G>T (p.Met1112Ile)
c.2979G>T (p.Met993Ile)
2g.166238172C>GCA349068664SCN1A-AS1,SCN9Ac.3723G>C (p.Met1241Ile)
c.3690G>C (p.Met1230Ile)
n.612-10023C>G
c.3336G>C (p.Met1112Ile)
c.2979G>C (p.Met993Ile)
2g.166238172C>TCA349068662SCN1A-AS1,SCN9Ac.3723G>A (p.Met1241Ile)
c.3690G>A (p.Met1230Ile)
n.612-10023C>T
c.3336G>A (p.Met1112Ile)
c.2979G>A (p.Met993Ile)
2g.166238173A=CA1304949975SCN1A-AS1,SCN9Ac.3722T= (p.Met1241=)
c.3689T= (p.Met1230=)
n.612-10022A=
c.3335T= (p.Met1112=)
c.2978T= (p.Met993=)
2g.166238173A>CCA349068666SCN1A-AS1,SCN9Ac.3722T>G (p.Met1241Arg)
c.3689T>G (p.Met1230Arg)
n.612-10022A>C
c.3335T>G (p.Met1112Arg)
c.2978T>G (p.Met993Arg)
2g.166238173A>GCA59813655SCN1A-AS1,SCN9Ac.3722T>C (p.Met1241Thr)
c.3689T>C (p.Met1230Thr)
n.612-10022A>G
c.3335T>C (p.Met1112Thr)
c.2978T>C (p.Met993Thr)
 ClinVar dbSNP gnomAD v4
2g.166238173A>TCA349068668SCN1A-AS1,SCN9Ac.3722T>A (p.Met1241Lys)
c.3689T>A (p.Met1230Lys)
n.612-10022A>T
c.3335T>A (p.Met1112Lys)
c.2978T>A (p.Met993Lys)
2g.166238173_166238174delinsATCA1304949976SCN1A-AS1,SCN9Ac.3721_3722delinsAT (p.Met1241=)
c.3688_3689delinsAT (p.Met1230=)
n.612-10022_612-10021delinsAT
c.3334_3335delinsAT (p.Met1112=)
c.2977_2978delinsAT (p.Met993=)
2g.166238174T>ACA349068670SCN1A-AS1,SCN9Ac.3721A>T (p.Met1241Leu)
c.3688A>T (p.Met1230Leu)
n.612-10021T>A
c.3334A>T (p.Met1112Leu)
c.2977A>T (p.Met993Leu)
2g.166238174T>CCA349068672SCN1A-AS1,SCN9Ac.3721A>G (p.Met1241Val)
c.3688A>G (p.Met1230Val)
n.612-10021T>C
c.3334A>G (p.Met1112Val)
c.2977A>G (p.Met993Val)
2g.166238174T>GCA349068673SCN1A-AS1,SCN9Ac.3721A>C (p.Met1241Leu)
c.3688A>C (p.Met1230Leu)
n.612-10021T>G
c.3334A>C (p.Met1112Leu)
c.2977A>C (p.Met993Leu)
2g.166238176delCA537513852SCN1A-AS1,SCN9Ac.3721del (p.Met1241CysfsTer3)
c.3688del (p.Met1230CysfsTer3)
n.612-10019del
c.3334del (p.Met1112CysfsTer3)
c.2977del (p.Met993CysfsTer3)
 dbSNP gnomAD v2 gnomAD v4
2g.166238175T>ACA349068675SCN1A-AS1,SCN9Ac.3720A>T (p.Glu1240Asp)
c.3687A>T (p.Glu1229Asp)
n.612-10020T>A
c.3333A>T (p.Glu1111Asp)
c.2976A>T (p.Glu992Asp)
2g.166238175T>CCA429900733SCN1A-AS1,SCN9Ac.3720A>G (p.Glu1240=)
c.3687A>G (p.Glu1229=)
n.612-10020T>C
c.3333A>G (p.Glu1111=)
c.2976A>G (p.Glu992=)
2g.166238175T>GCA349068676SCN1A-AS1,SCN9Ac.3720A>C (p.Glu1240Asp)
c.3687A>C (p.Glu1229Asp)
n.612-10020T>G
c.3333A>C (p.Glu1111Asp)
c.2976A>C (p.Glu992Asp)
2g.166238176T>ACA349068677SCN1A-AS1,SCN9Ac.3719A>T (p.Glu1240Val)
c.3686A>T (p.Glu1229Val)
n.612-10019T>A
c.3332A>T (p.Glu1111Val)
c.2975A>T (p.Glu992Val)
2g.166238176T>CCA349068679SCN1A-AS1,SCN9Ac.3719A>G (p.Glu1240Gly)
c.3686A>G (p.Glu1229Gly)
n.612-10019T>C
c.3332A>G (p.Glu1111Gly)
c.2975A>G (p.Glu992Gly)
2g.166238176T>GCA349068680SCN1A-AS1,SCN9Ac.3719A>C (p.Glu1240Ala)
c.3686A>C (p.Glu1229Ala)
n.612-10019T>G
c.3332A>C (p.Glu1111Ala)
c.2975A>C (p.Glu992Ala)
2g.166238177C>ACA349068685SCN1A-AS1,SCN9Ac.3718G>T (p.Glu1240Ter)
c.3685G>T (p.Glu1229Ter)
n.612-10018C>A
c.3331G>T (p.Glu1111Ter)
c.2974G>T (p.Glu992Ter)
 dbSNP gnomAD v4
2g.166238177C=CA1304949977SCN1A-AS1,SCN9Ac.3718G= (p.Glu1240=)
c.3685G= (p.Glu1229=)
n.612-10018C=
c.3331G= (p.Glu1111=)
c.2974G= (p.Glu992=)
2g.166238177C>GCA349068684SCN1A-AS1,SCN9Ac.3718G>C (p.Glu1240Gln)
c.3685G>C (p.Glu1229Gln)
n.612-10018C>G
c.3331G>C (p.Glu1111Gln)
c.2974G>C (p.Glu992Gln)
2g.166238177C>TCA349068682SCN1A-AS1,SCN9Ac.3718G>A (p.Glu1240Lys)
c.3685G>A (p.Glu1229Lys)
n.612-10018C>T
c.3331G>A (p.Glu1111Lys)
c.2974G>A (p.Glu992Lys)
 gnomAD v4
2g.166238178C>ACA429900734SCN1A-AS1,SCN9Ac.3717G>T (p.Leu1239=)
c.3684G>T (p.Leu1228=)
n.612-10017C>A
c.3330G>T (p.Leu1110=)
c.2973G>T (p.Leu991=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166238178C=CA1304949978SCN1A-AS1,SCN9Ac.3717G= (p.Leu1239=)
c.3684G= (p.Leu1228=)
n.612-10017C=
c.3330G= (p.Leu1110=)
c.2973G= (p.Leu991=)
2g.166238178C>GCA429900735SCN1A-AS1,SCN9Ac.3717G>C (p.Leu1239=)
c.3684G>C (p.Leu1228=)
n.612-10017C>G
c.3330G>C (p.Leu1110=)
c.2973G>C (p.Leu991=)
2g.166238178C>TCA429900736SCN1A-AS1,SCN9Ac.3717G>A (p.Leu1239=)
c.3684G>A (p.Leu1228=)
n.612-10017C>T
c.3330G>A (p.Leu1110=)
c.2973G>A (p.Leu991=)
 dbSNP
2g.166238179A>CCA349068687SCN1A-AS1,SCN9Ac.3716T>G (p.Leu1239Arg)
c.3683T>G (p.Leu1228Arg)
n.612-10016A>C
c.3329T>G (p.Leu1110Arg)
c.2972T>G (p.Leu991Arg)
2g.166238179A>GCA349068689SCN1A-AS1,SCN9Ac.3716T>C (p.Leu1239Pro)
c.3683T>C (p.Leu1228Pro)
n.612-10016A>G
c.3329T>C (p.Leu1110Pro)
c.2972T>C (p.Leu991Pro)
2g.166238179A>TCA349068691SCN1A-AS1,SCN9Ac.3716T>A (p.Leu1239Gln)
c.3683T>A (p.Leu1228Gln)
n.612-10016A>T
c.3329T>A (p.Leu1110Gln)
c.2972T>A (p.Leu991Gln)
2g.166238180G>ACA429900737SCN1A-AS1,SCN9Ac.3715C>T (p.Leu1239=)
c.3682C>T (p.Leu1228=)
n.612-10015G>A
c.3328C>T (p.Leu1110=)
c.2971C>T (p.Leu991=)
2g.166238180G>CCA349068692SCN1A-AS1,SCN9Ac.3715C>G (p.Leu1239Val)
c.3682C>G (p.Leu1228Val)
n.612-10015G>C
c.3328C>G (p.Leu1110Val)
c.2971C>G (p.Leu991Val)
2g.166238180G=CA1304949979SCN1A-AS1,SCN9Ac.3715C= (p.Leu1239=)
c.3682C= (p.Leu1228=)
n.612-10015G=
c.3328C= (p.Leu1110=)
c.2971C= (p.Leu991=)
2g.166238180G>TCA1944014SCN1A-AS1,SCN9Ac.3715C>A (p.Leu1239Met)
c.3682C>A (p.Leu1228Met)
n.612-10015G>T
c.3328C>A (p.Leu1110Met)
c.2971C>A (p.Leu991Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.166238181A>CCA349068695SCN1A-AS1,SCN9Ac.3714T>G (p.Ile1238Met)
c.3681T>G (p.Ile1227Met)
n.612-10014A>C
c.3327T>G (p.Ile1109Met)
c.2970T>G (p.Ile990Met)
2g.166238181A>GCA429900738SCN1A-AS1,SCN9Ac.3714T>C (p.Ile1238=)
c.3681T>C (p.Ile1227=)
n.612-10014A>G
c.3327T>C (p.Ile1109=)
c.2970T>C (p.Ile990=)
2g.166238181A>TCA429900739SCN1A-AS1,SCN9Ac.3714T>A (p.Ile1238=)
c.3681T>A (p.Ile1227=)
n.612-10014A>T
c.3327T>A (p.Ile1109=)
c.2970T>A (p.Ile990=)
 gnomAD v4
2g.166238182A>CCA349068697SCN1A-AS1,SCN9Ac.3713T>G (p.Ile1238Ser)
c.3680T>G (p.Ile1227Ser)
n.612-10013A>C
c.3326T>G (p.Ile1109Ser)
c.2969T>G (p.Ile990Ser)
2g.166238182A>GCA349068698SCN1A-AS1,SCN9Ac.3713T>C (p.Ile1238Thr)
c.3680T>C (p.Ile1227Thr)
n.612-10013A>G
c.3326T>C (p.Ile1109Thr)
c.2969T>C (p.Ile990Thr)
2g.166238182A>TCA349068700SCN1A-AS1,SCN9Ac.3713T>A (p.Ile1238Asn)
c.3680T>A (p.Ile1227Asn)
n.612-10013A>T
c.3326T>A (p.Ile1109Asn)
c.2969T>A (p.Ile990Asn)
2g.166238183T>ACA349068703SCN1A-AS1,SCN9Ac.3712A>T (p.Ile1238Phe)
c.3679A>T (p.Ile1227Phe)
n.612-10012T>A
c.3325A>T (p.Ile1109Phe)
c.2968A>T (p.Ile990Phe)
2g.166238183T>CCA349068704SCN1A-AS1,SCN9Ac.3712A>G (p.Ile1238Val)
c.3679A>G (p.Ile1227Val)
n.612-10012T>C
c.3325A>G (p.Ile1109Val)
c.2968A>G (p.Ile990Val)
 ClinVar dbSNP gnomAD v4
2g.166238183T>GCA349068706SCN1A-AS1,SCN9Ac.3712A>C (p.Ile1238Leu)
c.3679A>C (p.Ile1227Leu)
n.612-10012T>G
c.3325A>C (p.Ile1109Leu)
c.2968A>C (p.Ile990Leu)
2g.166238183T=CA1304949980SCN1A-AS1,SCN9Ac.3712A= (p.Ile1238=)
c.3679A= (p.Ile1227=)
n.612-10012T=
c.3325A= (p.Ile1109=)
c.2968A= (p.Ile990=)
2g.166238184G>ACA429900740SCN1A-AS1,SCN9Ac.3711C>T (p.Phe1237=)
c.3678C>T (p.Phe1226=)
n.612-10011G>A
c.3324C>T (p.Phe1108=)
c.2967C>T (p.Phe989=)
2g.166238184G>CCA349068707SCN1A-AS1,SCN9Ac.3711C>G (p.Phe1237Leu)
c.3678C>G (p.Phe1226Leu)
n.612-10011G>C
c.3324C>G (p.Phe1108Leu)
c.2967C>G (p.Phe989Leu)
2g.166238184G=CA1304949981SCN1A-AS1,SCN9Ac.3711C= (p.Phe1237=)
c.3678C= (p.Phe1226=)
n.612-10011G=
c.3324C= (p.Phe1108=)
c.2967C= (p.Phe989=)
2g.166238184G>TCA349068708SCN1A-AS1,SCN9Ac.3711C>A (p.Phe1237Leu)
c.3678C>A (p.Phe1226Leu)
n.612-10011G>T
c.3324C>A (p.Phe1108Leu)
c.2967C>A (p.Phe989Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166238185A>CCA349068710SCN1A-AS1,SCN9Ac.3710T>G (p.Phe1237Cys)
c.3677T>G (p.Phe1226Cys)
n.612-10010A>C
c.3323T>G (p.Phe1108Cys)
c.2966T>G (p.Phe989Cys)
2g.166238185A>GCA349068713SCN1A-AS1,SCN9Ac.3710T>C (p.Phe1237Ser)
c.3677T>C (p.Phe1226Ser)
n.612-10010A>G
c.3323T>C (p.Phe1108Ser)
c.2966T>C (p.Phe989Ser)
2g.166238185A>TCA349068711SCN1A-AS1,SCN9Ac.3710T>A (p.Phe1237Tyr)
c.3677T>A (p.Phe1226Tyr)
n.612-10010A>T
c.3323T>A (p.Phe1108Tyr)
c.2966T>A (p.Phe989Tyr)
2g.166238186A>CCA349068716SCN1A-AS1,SCN9Ac.3709T>G (p.Phe1237Val)
c.3676T>G (p.Phe1226Val)
n.612-10009A>C
c.3322T>G (p.Phe1108Val)
c.2965T>G (p.Phe989Val)
2g.166238186A>GCA349068717SCN1A-AS1,SCN9Ac.3709T>C (p.Phe1237Leu)
c.3676T>C (p.Phe1226Leu)
n.612-10009A>G
c.3322T>C (p.Phe1108Leu)
c.2965T>C (p.Phe989Leu)
2g.166238186A>TCA349068719SCN1A-AS1,SCN9Ac.3709T>A (p.Phe1237Ile)
c.3676T>A (p.Phe1226Ile)
n.612-10009A>T
c.3322T>A (p.Phe1108Ile)
c.2965T>A (p.Phe989Ile)
2g.166238187G>ACA429900742SCN1A-AS1,SCN9Ac.3708C>T (p.Ile1236=)
c.3675C>T (p.Ile1225=)
n.612-10008G>A
c.3321C>T (p.Ile1107=)
c.2964C>T (p.Ile988=)
 dbSNP gnomAD v2 gnomAD v4
2g.166238187G>CCA349068721SCN1A-AS1,SCN9Ac.3708C>G (p.Ile1236Met)
c.3675C>G (p.Ile1225Met)
n.612-10008G>C
c.3321C>G (p.Ile1107Met)
c.2964C>G (p.Ile988Met)
2g.166238187G=CA1304949982SCN1A-AS1,SCN9Ac.3708C= (p.Ile1236=)
c.3675C= (p.Ile1225=)
n.612-10008G=
c.3321C= (p.Ile1107=)
c.2964C= (p.Ile988=)
2g.166238187G>TCA429900743SCN1A-AS1,SCN9Ac.3708C>A (p.Ile1236=)
c.3675C>A (p.Ile1225=)
n.612-10008G>T
c.3321C>A (p.Ile1107=)
c.2964C>A (p.Ile988=)
 gnomAD v4
2g.166238188A>CCA349068723SCN1A-AS1,SCN9Ac.3707T>G (p.Ile1236Ser)
c.3674T>G (p.Ile1225Ser)
n.612-10007A>C
c.3320T>G (p.Ile1107Ser)
c.2963T>G (p.Ile988Ser)
2g.166238188A>GCA349068725SCN1A-AS1,SCN9Ac.3707T>C (p.Ile1236Thr)
c.3674T>C (p.Ile1225Thr)
n.612-10007A>G
c.3320T>C (p.Ile1107Thr)
c.2963T>C (p.Ile988Thr)
2g.166238188A>TCA349068727SCN1A-AS1,SCN9Ac.3707T>A (p.Ile1236Asn)
c.3674T>A (p.Ile1225Asn)
n.612-10007A>T
c.3320T>A (p.Ile1107Asn)
c.2963T>A (p.Ile988Asn)
2g.166238189T>ACA349068729SCN1A-AS1,SCN9Ac.3706A>T (p.Ile1236Phe)
c.3673A>T (p.Ile1225Phe)
n.612-10006T>A
c.3319A>T (p.Ile1107Phe)
c.2962A>T (p.Ile988Phe)
2g.166238189T>CCA349068730SCN1A-AS1,SCN9Ac.3706A>G (p.Ile1236Val)
c.3673A>G (p.Ile1225Val)
n.612-10006T>C
c.3319A>G (p.Ile1107Val)
c.2962A>G (p.Ile988Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.166238189T>GCA349068732SCN1A-AS1,SCN9Ac.3706A>C (p.Ile1236Leu)
c.3673A>C (p.Ile1225Leu)
n.612-10006T>G
c.3319A>C (p.Ile1107Leu)
c.2962A>C (p.Ile988Leu)
 gnomAD v4
2g.166238189T=CA1304949983SCN1A-AS1,SCN9Ac.3706A= (p.Ile1236=)
c.3673A= (p.Ile1225=)
n.612-10006T=
c.3319A= (p.Ile1107=)
c.2962A= (p.Ile988=)
2g.166238190G>ACA59813658SCN1A-AS1,SCN9Ac.3705C>T (p.Tyr1235=)
c.3672C>T (p.Tyr1224=)
n.612-10005G>A
c.3318C>T (p.Tyr1106=)
c.2961C>T (p.Tyr987=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.166238190G>CCA349068733SCN1A-AS1,SCN9Ac.3705C>G (p.Tyr1235Ter)
c.3672C>G (p.Tyr1224Ter)
n.612-10005G>C
c.3318C>G (p.Tyr1106Ter)
c.2961C>G (p.Tyr987Ter)
2g.166238190G=CA1304949984SCN1A-AS1,SCN9Ac.3705C= (p.Tyr1235=)
c.3672C= (p.Tyr1224=)
n.612-10005G=
c.3318C= (p.Tyr1106=)
c.2961C= (p.Tyr987=)
2g.166238190G>TCA349068735SCN1A-AS1,SCN9Ac.3705C>A (p.Tyr1235Ter)
c.3672C>A (p.Tyr1224Ter)
n.612-10005G>T
c.3318C>A (p.Tyr1106Ter)
c.2961C>A (p.Tyr987Ter)
2g.166238191T>ACA349068737SCN1A-AS1,SCN9Ac.3704A>T (p.Tyr1235Phe)
c.3671A>T (p.Tyr1224Phe)
n.612-10004T>A
c.3317A>T (p.Tyr1106Phe)
c.2960A>T (p.Tyr987Phe)
2g.166238191T>CCA349068740SCN1A-AS1,SCN9Ac.3704A>G (p.Tyr1235Cys)
c.3671A>G (p.Tyr1224Cys)
n.612-10004T>C
c.3317A>G (p.Tyr1106Cys)
c.2960A>G (p.Tyr987Cys)
2g.166238191T>GCA349068739SCN1A-AS1,SCN9Ac.3704A>C (p.Tyr1235Ser)
c.3671A>C (p.Tyr1224Ser)
n.612-10004T>G
c.3317A>C (p.Tyr1106Ser)
c.2960A>C (p.Tyr987Ser)
2g.166238192A>CCA349068742SCN1A-AS1,SCN9Ac.3703T>G (p.Tyr1235Asp)
c.3670T>G (p.Tyr1224Asp)
n.612-10003A>C
c.3316T>G (p.Tyr1106Asp)
c.2959T>G (p.Tyr987Asp)
2g.166238192A>GCA349068744SCN1A-AS1,SCN9Ac.3703T>C (p.Tyr1235His)
c.3670T>C (p.Tyr1224His)
n.612-10003A>G
c.3316T>C (p.Tyr1106His)
c.2959T>C (p.Tyr987His)
2g.166238192A>TCA349068745SCN1A-AS1,SCN9Ac.3703T>A (p.Tyr1235Asn)
c.3670T>A (p.Tyr1224Asn)
n.612-10003A>T
c.3316T>A (p.Tyr1106Asn)
c.2959T>A (p.Tyr987Asn)

Number of alleles fetched