Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38566439G>ACA017518SCN5Ac.3807C>T (p.Ala1269=)
c.3810C>T (p.Ala1270=)
c.3648C>T (p.Ala1216=)
c.3681C>T (p.Ala1227=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38566439G>CCA433136709SCN5Ac.3807C>G (p.Ala1269=)
c.3810C>G (p.Ala1270=)
c.3648C>G (p.Ala1216=)
c.3681C>G (p.Ala1227=)
 COSMIC COSMIC COSMIC
3g.38566439G=CA1358569496SCN5Ac.3807C= (p.Ala1269=)
c.3810C= (p.Ala1270=)
c.3648C= (p.Ala1216=)
c.3681C= (p.Ala1227=)
3g.38566439G>TCA433136710SCN5Ac.3807C>A (p.Ala1269=)
c.3810C>A (p.Ala1270=)
c.3648C>A (p.Ala1216=)
c.3681C>A (p.Ala1227=)
3g.38566440G>ACA352148964SCN5Ac.3806C>T (p.Ala1269Val)
c.3809C>T (p.Ala1270Val)
c.3647C>T (p.Ala1216Val)
c.3680C>T (p.Ala1227Val)
3g.38566440G>CCA352148966SCN5Ac.3806C>G (p.Ala1269Gly)
c.3809C>G (p.Ala1270Gly)
c.3647C>G (p.Ala1216Gly)
c.3680C>G (p.Ala1227Gly)
3g.38566440G>TCA352148968SCN5Ac.3806C>A (p.Ala1269Asp)
c.3809C>A (p.Ala1270Asp)
c.3647C>A (p.Ala1216Asp)
c.3680C>A (p.Ala1227Asp)
3g.38566441C>ACA352148969SCN5Ac.3805G>T (p.Ala1269Ser)
c.3808G>T (p.Ala1270Ser)
c.3646G>T (p.Ala1216Ser)
c.3679G>T (p.Ala1227Ser)
 gnomAD v4
3g.38566441C>GCA352148971SCN5Ac.3805G>C (p.Ala1269Pro)
c.3808G>C (p.Ala1270Pro)
c.3646G>C (p.Ala1216Pro)
c.3679G>C (p.Ala1227Pro)
3g.38566441C>TCA352148973SCN5Ac.3805G>A (p.Ala1269Thr)
c.3808G>A (p.Ala1270Thr)
c.3646G>A (p.Ala1216Thr)
c.3679G>A (p.Ala1227Thr)
3g.38566442A>CCA352148975SCN5Ac.3804T>G (p.Asn1268Lys)
c.3807T>G (p.Asn1269Lys)
c.3645T>G (p.Asn1215Lys)
c.3678T>G (p.Asn1226Lys)
3g.38566442A>GCA433136715SCN5Ac.3804T>C (p.Asn1268=)
c.3807T>C (p.Asn1269=)
c.3645T>C (p.Asn1215=)
c.3678T>C (p.Asn1226=)
 ClinVar gnomAD v4
3g.38566442A>TCA352148977SCN5Ac.3804T>A (p.Asn1268Lys)
c.3807T>A (p.Asn1269Lys)
c.3645T>A (p.Asn1215Lys)
c.3678T>A (p.Asn1226Lys)
 gnomAD v4
3g.38566443T>ACA352148980SCN5Ac.3803A>T (p.Asn1268Ile)
c.3806A>T (p.Asn1269Ile)
c.3644A>T (p.Asn1215Ile)
c.3677A>T (p.Asn1226Ile)
3g.38566443T>CCA062301SCN5Ac.3803A>G (p.Asn1268Ser)
c.3806A>G (p.Asn1269Ser)
c.3644A>G (p.Asn1215Ser)
c.3677A>G (p.Asn1226Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38566443T>GCA352148982SCN5Ac.3803A>C (p.Asn1268Thr)
c.3806A>C (p.Asn1269Thr)
c.3644A>C (p.Asn1215Thr)
c.3677A>C (p.Asn1226Thr)
3g.38566443T=CA1358569505SCN5Ac.3803A= (p.Asn1268=)
c.3806A= (p.Asn1269=)
c.3644A= (p.Asn1215=)
c.3677A= (p.Asn1226=)
3g.38566444T>ACA352148984SCN5Ac.3802A>T (p.Asn1268Tyr)
c.3805A>T (p.Asn1269Tyr)
c.3643A>T (p.Asn1215Tyr)
c.3676A>T (p.Asn1226Tyr)
3g.38566444T>CCA352148986SCN5Ac.3802A>G (p.Asn1268Asp)
c.3805A>G (p.Asn1269Asp)
c.3643A>G (p.Asn1215Asp)
c.3676A>G (p.Asn1226Asp)
3g.38566444T>GCA352148988SCN5Ac.3802A>C (p.Asn1268His)
c.3805A>C (p.Asn1269His)
c.3643A>C (p.Asn1215His)
c.3676A>C (p.Asn1226His)
3g.38566445G>ACA433136720SCN5Ac.3801C>T (p.Thr1267=)
c.3804C>T (p.Thr1268=)
c.3642C>T (p.Thr1214=)
c.3675C>T (p.Thr1225=)
3g.38566445G>CCA433136723SCN5Ac.3801C>G (p.Thr1267=)
c.3804C>G (p.Thr1268=)
c.3642C>G (p.Thr1214=)
c.3675C>G (p.Thr1225=)
 COSMIC
3g.38566445G>TCA433136724SCN5Ac.3801C>A (p.Thr1267=)
c.3804C>A (p.Thr1268=)
c.3642C>A (p.Thr1214=)
c.3675C>A (p.Thr1225=)
3g.38566446G>ACA352148990SCN5Ac.3800C>T (p.Thr1267Ile)
c.3803C>T (p.Thr1268Ile)
c.3641C>T (p.Thr1214Ile)
c.3674C>T (p.Thr1225Ile)
3g.38566446G>CCA352148992SCN5Ac.3800C>G (p.Thr1267Ser)
c.3803C>G (p.Thr1268Ser)
c.3641C>G (p.Thr1214Ser)
c.3674C>G (p.Thr1225Ser)
 gnomAD v4
3g.38566446G=CA1358569511SCN5Ac.3800C= (p.Thr1267=)
c.3803C= (p.Thr1268=)
c.3641C= (p.Thr1214=)
c.3674C= (p.Thr1225=)
3g.38566446G>TCA352148993SCN5Ac.3800C>A (p.Thr1267Asn)
c.3803C>A (p.Thr1268Asn)
c.3641C>A (p.Thr1214Asn)
c.3674C>A (p.Thr1225Asn)
 dbSNP gnomAD v2 gnomAD v4
3g.38566447T>ACA352148995SCN5Ac.3799A>T (p.Thr1267Ser)
c.3802A>T (p.Thr1268Ser)
c.3640A>T (p.Thr1214Ser)
c.3673A>T (p.Thr1225Ser)
 dbSNP gnomAD v2
3g.38566447T>CCA352148997SCN5Ac.3799A>G (p.Thr1267Ala)
c.3802A>G (p.Thr1268Ala)
c.3640A>G (p.Thr1214Ala)
c.3673A>G (p.Thr1225Ala)
3g.38566447T>GCA352148999SCN5Ac.3799A>C (p.Thr1267Pro)
c.3802A>C (p.Thr1268Pro)
c.3640A>C (p.Thr1214Pro)
c.3673A>C (p.Thr1225Pro)
3g.38566447T=CA1358569515SCN5Ac.3799A= (p.Thr1267=)
c.3802A= (p.Thr1268=)
c.3640A= (p.Thr1214=)
c.3673A= (p.Thr1225=)
3g.38566448G>ACA062297SCN5Ac.3798C>T (p.Phe1266=)
c.3801C>T (p.Phe1267=)
c.3639C>T (p.Phe1213=)
c.3672C>T (p.Phe1224=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38566448G>CCA352149002SCN5Ac.3798C>G (p.Phe1266Leu)
c.3801C>G (p.Phe1267Leu)
c.3639C>G (p.Phe1213Leu)
c.3672C>G (p.Phe1224Leu)
3g.38566448G=CA1358569517SCN5Ac.3798C= (p.Phe1266=)
c.3801C= (p.Phe1267=)
c.3639C= (p.Phe1213=)
c.3672C= (p.Phe1224=)
3g.38566448G>TCA352149003SCN5Ac.3798C>A (p.Phe1266Leu)
c.3801C>A (p.Phe1267Leu)
c.3639C>A (p.Phe1213Leu)
c.3672C>A (p.Phe1224Leu)
3g.38566449A>CCA352149007SCN5Ac.3797T>G (p.Phe1266Cys)
c.3800T>G (p.Phe1267Cys)
c.3638T>G (p.Phe1213Cys)
c.3671T>G (p.Phe1224Cys)
3g.38566449A>GCA352149005SCN5Ac.3797T>C (p.Phe1266Ser)
c.3800T>C (p.Phe1267Ser)
c.3638T>C (p.Phe1213Ser)
c.3671T>C (p.Phe1224Ser)
3g.38566449A>TCA352149006SCN5Ac.3797T>A (p.Phe1266Tyr)
c.3800T>A (p.Phe1267Tyr)
c.3638T>A (p.Phe1213Tyr)
c.3671T>A (p.Phe1224Tyr)
3g.38566450A>CCA352149008SCN5Ac.3796T>G (p.Phe1266Val)
c.3799T>G (p.Phe1267Val)
c.3637T>G (p.Phe1213Val)
c.3670T>G (p.Phe1224Val)
3g.38566450A>GCA352149010SCN5Ac.3796T>C (p.Phe1266Leu)
c.3799T>C (p.Phe1267Leu)
c.3637T>C (p.Phe1213Leu)
c.3670T>C (p.Phe1224Leu)
3g.38566450A>TCA352149012SCN5Ac.3796T>A (p.Phe1266Ile)
c.3799T>A (p.Phe1267Ile)
c.3637T>A (p.Phe1213Ile)
c.3670T>A (p.Phe1224Ile)
3g.38566451G>ACA062289SCN5Ac.3795C>T (p.Tyr1265=)
c.3798C>T (p.Tyr1266=)
c.3636C>T (p.Tyr1212=)
c.3669C>T (p.Tyr1223=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38566451G>CCA352149014SCN5Ac.3795C>G (p.Tyr1265Ter)
c.3798C>G (p.Tyr1266Ter)
c.3636C>G (p.Tyr1212Ter)
c.3669C>G (p.Tyr1223Ter)
3g.38566451G=CA1358569520SCN5Ac.3795C= (p.Tyr1265=)
c.3798C= (p.Tyr1266=)
c.3636C= (p.Tyr1212=)
c.3669C= (p.Tyr1223=)
3g.38566451G>TCA352149015SCN5Ac.3795C>A (p.Tyr1265Ter)
c.3798C>A (p.Tyr1266Ter)
c.3636C>A (p.Tyr1212Ter)
c.3669C>A (p.Tyr1223Ter)
3g.38566452T>ACA352149017SCN5Ac.3794A>T (p.Tyr1265Phe)
c.3797A>T (p.Tyr1266Phe)
c.3635A>T (p.Tyr1212Phe)
c.3668A>T (p.Tyr1223Phe)
3g.38566452T>CCA352149019SCN5Ac.3794A>G (p.Tyr1265Cys)
c.3797A>G (p.Tyr1266Cys)
c.3635A>G (p.Tyr1212Cys)
c.3668A>G (p.Tyr1223Cys)
3g.38566452T>GCA352149020SCN5Ac.3794A>C (p.Tyr1265Ser)
c.3797A>C (p.Tyr1266Ser)
c.3635A>C (p.Tyr1212Ser)
c.3668A>C (p.Tyr1223Ser)
3g.38566453A>CCA352149022SCN5Ac.3793T>G (p.Tyr1265Asp)
c.3796T>G (p.Tyr1266Asp)
c.3634T>G (p.Tyr1212Asp)
c.3667T>G (p.Tyr1223Asp)
3g.38566453A>GCA352149023SCN5Ac.3793T>C (p.Tyr1265His)
c.3796T>C (p.Tyr1266His)
c.3634T>C (p.Tyr1212His)
c.3667T>C (p.Tyr1223His)
3g.38566453A>TCA352149024SCN5Ac.3793T>A (p.Tyr1265Asn)
c.3796T>A (p.Tyr1266Asn)
c.3634T>A (p.Tyr1212Asn)
c.3667T>A (p.Tyr1223Asn)
3g.38566454C>ACA352149026SCN5Ac.3792G>T (p.Lys1264Asn)
c.3795G>T (p.Lys1265Asn)
c.3633G>T (p.Lys1211Asn)
c.3666G>T (p.Lys1222Asn)
 ClinVar dbSNP gnomAD v4
3g.38566454C=CA1358569532SCN5Ac.3792G= (p.Lys1264=)
c.3795G= (p.Lys1265=)
c.3633G= (p.Lys1211=)
c.3666G= (p.Lys1222=)
3g.38566454C>GCA352149027SCN5Ac.3792G>C (p.Lys1264Asn)
c.3795G>C (p.Lys1265Asn)
c.3633G>C (p.Lys1211Asn)
c.3666G>C (p.Lys1222Asn)
3g.38566454C>TCA433136735SCN5Ac.3792G>A (p.Lys1264=)
c.3795G>A (p.Lys1265=)
c.3633G>A (p.Lys1211=)
c.3666G>A (p.Lys1222=)
 ClinVar dbSNP gnomAD v4
3g.38566455T>ACA352149029SCN5Ac.3791A>T (p.Lys1264Met)
c.3794A>T (p.Lys1265Met)
c.3632A>T (p.Lys1211Met)
c.3665A>T (p.Lys1222Met)
3g.38566455T>CCA352149031SCN5Ac.3791A>G (p.Lys1264Arg)
c.3794A>G (p.Lys1265Arg)
c.3632A>G (p.Lys1211Arg)
c.3665A>G (p.Lys1222Arg)
3g.38566455T>GCA352149032SCN5Ac.3791A>C (p.Lys1264Thr)
c.3794A>C (p.Lys1265Thr)
c.3632A>C (p.Lys1211Thr)
c.3665A>C (p.Lys1222Thr)
3g.38566456T>ACA352149034SCN5Ac.3790A>T (p.Lys1264Ter)
c.3793A>T (p.Lys1265Ter)
c.3631A>T (p.Lys1211Ter)
c.3664A>T (p.Lys1222Ter)
 dbSNP
3g.38566456T>CCA352149035SCN5Ac.3790A>G (p.Lys1264Glu)
c.3793A>G (p.Lys1265Glu)
c.3631A>G (p.Lys1211Glu)
c.3664A>G (p.Lys1222Glu)
3g.38566456T>GCA352149036SCN5Ac.3790A>C (p.Lys1264Gln)
c.3793A>C (p.Lys1265Gln)
c.3631A>C (p.Lys1211Gln)
c.3664A>C (p.Lys1222Gln)
3g.38566456T=CA1358569538SCN5Ac.3790A= (p.Lys1264=)
c.3793A= (p.Lys1265=)
c.3631A= (p.Lys1211=)
c.3664A= (p.Lys1222=)
3g.38566457C>ACA352149037SCN5Ac.3789G>T (p.Lys1263Asn)
c.3792G>T (p.Lys1264Asn)
c.3630G>T (p.Lys1210Asn)
c.3663G>T (p.Lys1221Asn)
3g.38566457C=CA1358569541SCN5Ac.3789G= (p.Lys1263=)
c.3792G= (p.Lys1264=)
c.3630G= (p.Lys1210=)
c.3663G= (p.Lys1221=)
3g.38566457C>GCA062282SCN5Ac.3789G>C (p.Lys1263Asn)
c.3792G>C (p.Lys1264Asn)
c.3630G>C (p.Lys1210Asn)
c.3663G>C (p.Lys1221Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38566457C>TCA433136737SCN5Ac.3789G>A (p.Lys1263=)
c.3792G>A (p.Lys1264=)
c.3630G>A (p.Lys1210=)
c.3663G>A (p.Lys1221=)
 ClinVar gnomAD v4
3g.38566458T>ACA352149039SCN5Ac.3788A>T (p.Lys1263Met)
c.3791A>T (p.Lys1264Met)
c.3629A>T (p.Lys1210Met)
c.3662A>T (p.Lys1221Met)
3g.38566458T>CCA352149041SCN5Ac.3788A>G (p.Lys1263Arg)
c.3791A>G (p.Lys1264Arg)
c.3629A>G (p.Lys1210Arg)
c.3662A>G (p.Lys1221Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38566458T>GCA352149042SCN5Ac.3788A>C (p.Lys1263Thr)
c.3791A>C (p.Lys1264Thr)
c.3629A>C (p.Lys1210Thr)
c.3662A>C (p.Lys1221Thr)
3g.38566458T=CA1358569546SCN5Ac.3788A= (p.Lys1263=)
c.3791A= (p.Lys1264=)
c.3629A= (p.Lys1210=)
c.3662A= (p.Lys1221=)
3g.38566459T>ACA352149044SCN5Ac.3787A>T (p.Lys1263Ter)
c.3790A>T (p.Lys1264Ter)
c.3628A>T (p.Lys1210Ter)
c.3661A>T (p.Lys1221Ter)
 dbSNP
3g.38566459T>CCA352149045SCN5Ac.3787A>G (p.Lys1263Glu)
c.3790A>G (p.Lys1264Glu)
c.3628A>G (p.Lys1210Glu)
c.3661A>G (p.Lys1221Glu)
 gnomAD v4
3g.38566459T>GCA352149047SCN5Ac.3787A>C (p.Lys1263Gln)
c.3790A>C (p.Lys1264Gln)
c.3628A>C (p.Lys1210Gln)
c.3661A>C (p.Lys1221Gln)
3g.38566459T=CA1358569550SCN5Ac.3787A= (p.Lys1263=)
c.3790A= (p.Lys1264=)
c.3628A= (p.Lys1210=)
c.3661A= (p.Lys1221=)
3g.38566460G>ACA433136742SCN5Ac.3786C>T (p.Phe1262=)
c.3789C>T (p.Phe1263=)
c.3627C>T (p.Phe1209=)
c.3660C>T (p.Phe1220=)
3g.38566460G>CCA352149049SCN5Ac.3786C>G (p.Phe1262Leu)
c.3789C>G (p.Phe1263Leu)
c.3627C>G (p.Phe1209Leu)
c.3660C>G (p.Phe1220Leu)
3g.38566460G>TCA352149051SCN5Ac.3786C>A (p.Phe1262Leu)
c.3789C>A (p.Phe1263Leu)
c.3627C>A (p.Phe1209Leu)
c.3660C>A (p.Phe1220Leu)
3g.38566461A=CA1358569553SCN5Ac.3785T= (p.Phe1262=)
c.3788T= (p.Phe1263=)
c.3626T= (p.Phe1209=)
c.3659T= (p.Phe1220=)
3g.38566461A>CCA352149054SCN5Ac.3785T>G (p.Phe1262Cys)
c.3788T>G (p.Phe1263Cys)
c.3626T>G (p.Phe1209Cys)
c.3659T>G (p.Phe1220Cys)
3g.38566461A>GCA352149055SCN5Ac.3785T>C (p.Phe1262Ser)
c.3788T>C (p.Phe1263Ser)
c.3626T>C (p.Phe1209Ser)
c.3659T>C (p.Phe1220Ser)
 dbSNP
3g.38566461A>TCA352149057SCN5Ac.3785T>A (p.Phe1262Tyr)
c.3788T>A (p.Phe1263Tyr)
c.3626T>A (p.Phe1209Tyr)
c.3659T>A (p.Phe1220Tyr)
3g.38566462A>CCA352149058SCN5Ac.3784T>G (p.Phe1262Val)
c.3787T>G (p.Phe1263Val)
c.3625T>G (p.Phe1209Val)
c.3658T>G (p.Phe1220Val)
3g.38566462A>GCA352149059SCN5Ac.3784T>C (p.Phe1262Leu)
c.3787T>C (p.Phe1263Leu)
c.3625T>C (p.Phe1209Leu)
c.3658T>C (p.Phe1220Leu)
3g.38566462A>TCA352149061SCN5Ac.3784T>A (p.Phe1262Ile)
c.3787T>A (p.Phe1263Ile)
c.3625T>A (p.Phe1209Ile)
c.3658T>A (p.Phe1220Ile)
3g.38566463G>ACA433136744SCN5Ac.3783C>T (p.Gly1261=)
c.3786C>T (p.Gly1262=)
c.3624C>T (p.Gly1208=)
c.3657C>T (p.Gly1219=)
 COSMIC COSMIC COSMIC
3g.38566463G>CCA433136747SCN5Ac.3783C>G (p.Gly1261=)
c.3786C>G (p.Gly1262=)
c.3624C>G (p.Gly1208=)
c.3657C>G (p.Gly1219=)
3g.38566463G>TCA433136746SCN5Ac.3783C>A (p.Gly1261=)
c.3786C>A (p.Gly1262=)
c.3624C>A (p.Gly1208=)
c.3657C>A (p.Gly1219=)
3g.38566464C>ACA352149063SCN5Ac.3782G>T (p.Gly1261Val)
c.3785G>T (p.Gly1262Val)
c.3623G>T (p.Gly1208Val)
c.3656G>T (p.Gly1219Val)
3g.38566464C=CA1358569556SCN5Ac.3782G= (p.Gly1261=)
c.3785G= (p.Gly1262=)
c.3623G= (p.Gly1208=)
c.3656G= (p.Gly1219=)
3g.38566464C>GCA352149065SCN5Ac.3782G>C (p.Gly1261Ala)
c.3785G>C (p.Gly1262Ala)
c.3623G>C (p.Gly1208Ala)
c.3656G>C (p.Gly1219Ala)
3g.38566464C>TCA352149066SCN5Ac.3782G>A (p.Gly1261Asp)
c.3785G>A (p.Gly1262Asp)
c.3623G>A (p.Gly1208Asp)
c.3656G>A (p.Gly1219Asp)
 dbSNP
3g.38566465C>ACA352149068SCN5Ac.3781G>T (p.Gly1261Cys)
c.3784G>T (p.Gly1262Cys)
c.3622G>T (p.Gly1208Cys)
c.3655G>T (p.Gly1219Cys)
 ClinVar dbSNP
3g.38566465C=CA1358569561SCN5Ac.3781G= (p.Gly1261=)
c.3784G= (p.Gly1262=)
c.3622G= (p.Gly1208=)
c.3655G= (p.Gly1219=)
3g.38566465C>GCA352149069SCN5Ac.3781G>C (p.Gly1261Arg)
c.3784G>C (p.Gly1262Arg)
c.3622G>C (p.Gly1208Arg)
c.3655G>C (p.Gly1219Arg)
3g.38566465C>TCA017513SCN5Ac.3781G>A (p.Gly1261Ser)
c.3784G>A (p.Gly1262Ser)
c.3622G>A (p.Gly1208Ser)
c.3655G>A (p.Gly1219Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38566466G>ACA062271SCN5Ac.3780C>T (p.Tyr1260=)
c.3783C>T (p.Tyr1261=)
c.3621C>T (p.Tyr1207=)
c.3654C>T (p.Tyr1218=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38566466G>CCA352149074SCN5Ac.3780C>G (p.Tyr1260Ter)
c.3783C>G (p.Tyr1261Ter)
c.3621C>G (p.Tyr1207Ter)
c.3654C>G (p.Tyr1218Ter)
3g.38566466G=CA1358569564SCN5Ac.3780C= (p.Tyr1260=)
c.3783C= (p.Tyr1261=)
c.3621C= (p.Tyr1207=)
c.3654C= (p.Tyr1218=)
3g.38566466G>TCA352149072SCN5Ac.3780C>A (p.Tyr1260Ter)
c.3783C>A (p.Tyr1261Ter)
c.3621C>A (p.Tyr1207Ter)
c.3654C>A (p.Tyr1218Ter)
3g.38566467T>ACA352149076SCN5Ac.3779A>T (p.Tyr1260Phe)
c.3782A>T (p.Tyr1261Phe)
c.3620A>T (p.Tyr1207Phe)
c.3653A>T (p.Tyr1218Phe)
3g.38566467T>CCA352149079SCN5Ac.3779A>G (p.Tyr1260Cys)
c.3782A>G (p.Tyr1261Cys)
c.3620A>G (p.Tyr1207Cys)
c.3653A>G (p.Tyr1218Cys)
 gnomAD v4
3g.38566467T>GCA352149077SCN5Ac.3779A>C (p.Tyr1260Ser)
c.3782A>C (p.Tyr1261Ser)
c.3620A>C (p.Tyr1207Ser)
c.3653A>C (p.Tyr1218Ser)
3g.38566468A>CCA352149081SCN5Ac.3778T>G (p.Tyr1260Asp)
c.3781T>G (p.Tyr1261Asp)
c.3619T>G (p.Tyr1207Asp)
c.3652T>G (p.Tyr1218Asp)
 gnomAD v4
3g.38566468A>GCA352149084SCN5Ac.3778T>C (p.Tyr1260His)
c.3781T>C (p.Tyr1261His)
c.3619T>C (p.Tyr1207His)
c.3652T>C (p.Tyr1218His)
3g.38566468A>TCA352149083SCN5Ac.3778T>A (p.Tyr1260Asn)
c.3781T>A (p.Tyr1261Asn)
c.3619T>A (p.Tyr1207Asn)
c.3652T>A (p.Tyr1218Asn)
3g.38566469G>ACA433136756SCN5Ac.3777C>T (p.Ala1259=)
c.3780C>T (p.Ala1260=)
c.3618C>T (p.Ala1206=)
c.3651C>T (p.Ala1217=)
3g.38566469G>CCA433136758SCN5Ac.3777C>G (p.Ala1259=)
c.3780C>G (p.Ala1260=)
c.3618C>G (p.Ala1206=)
c.3651C>G (p.Ala1217=)
3g.38566469G>TCA433136760SCN5Ac.3777C>A (p.Ala1259=)
c.3780C>A (p.Ala1260=)
c.3618C>A (p.Ala1206=)
c.3651C>A (p.Ala1217=)
3g.38566470G>ACA352149087SCN5Ac.3776C>T (p.Ala1259Val)
c.3779C>T (p.Ala1260Val)
c.3617C>T (p.Ala1206Val)
c.3650C>T (p.Ala1217Val)
3g.38566470G>CCA352149088SCN5Ac.3776C>G (p.Ala1259Gly)
c.3779C>G (p.Ala1260Gly)
c.3617C>G (p.Ala1206Gly)
c.3650C>G (p.Ala1217Gly)
3g.38566470G=CA1358569570SCN5Ac.3776C= (p.Ala1259=)
c.3779C= (p.Ala1260=)
c.3617C= (p.Ala1206=)
c.3650C= (p.Ala1217=)
3g.38566470G>TCA72947520SCN5Ac.3776C>A (p.Ala1259Asp)
c.3779C>A (p.Ala1260Asp)
c.3617C>A (p.Ala1206Asp)
c.3650C>A (p.Ala1217Asp)
 dbSNP
3g.38566471C>ACA352149090SCN5Ac.3775G>T (p.Ala1259Ser)
c.3778G>T (p.Ala1260Ser)
c.3616G>T (p.Ala1206Ser)
c.3649G>T (p.Ala1217Ser)
 ClinVar dbSNP
3g.38566471C>GCA352149093SCN5Ac.3775G>C (p.Ala1259Pro)
c.3778G>C (p.Ala1260Pro)
c.3616G>C (p.Ala1206Pro)
c.3649G>C (p.Ala1217Pro)
3g.38566471C>TCA352149092SCN5Ac.3775G>A (p.Ala1259Thr)
c.3778G>A (p.Ala1260Thr)
c.3616G>A (p.Ala1206Thr)
c.3649G>A (p.Ala1217Thr)
3g.38566472C>ACA433136761SCN5Ac.3774G>T (p.Val1258=)
c.3777G>T (p.Val1259=)
c.3615G>T (p.Val1205=)
c.3648G>T (p.Val1216=)
3g.38566472C>GCA433136762SCN5Ac.3774G>C (p.Val1258=)
c.3777G>C (p.Val1259=)
c.3615G>C (p.Val1205=)
c.3648G>C (p.Val1216=)
3g.38566472C>TCA433136763SCN5Ac.3774G>A (p.Val1258=)
c.3777G>A (p.Val1259=)
c.3615G>A (p.Val1205=)
c.3648G>A (p.Val1216=)
3g.38566473A>CCA352149096SCN5Ac.3773T>G (p.Val1258Gly)
c.3776T>G (p.Val1259Gly)
c.3614T>G (p.Val1205Gly)
c.3647T>G (p.Val1216Gly)
3g.38566473A>GCA352149099SCN5Ac.3773T>C (p.Val1258Ala)
c.3776T>C (p.Val1259Ala)
c.3614T>C (p.Val1205Ala)
c.3647T>C (p.Val1216Ala)
3g.38566473A>TCA352149097SCN5Ac.3773T>A (p.Val1258Glu)
c.3776T>A (p.Val1259Glu)
c.3614T>A (p.Val1205Glu)
c.3647T>A (p.Val1216Glu)
3g.38566474C>ACA352149102SCN5Ac.3772G>T (p.Val1258Leu)
c.3775G>T (p.Val1259Leu)
c.3613G>T (p.Val1205Leu)
c.3646G>T (p.Val1216Leu)
3g.38566474C>GCA352149103SCN5Ac.3772G>C (p.Val1258Leu)
c.3775G>C (p.Val1259Leu)
c.3613G>C (p.Val1205Leu)
c.3646G>C (p.Val1216Leu)
3g.38566474C>TCA352149104SCN5Ac.3772G>A (p.Val1258Met)
c.3775G>A (p.Val1259Met)
c.3613G>A (p.Val1205Met)
c.3646G>A (p.Val1216Met)
3g.38566475C>ACA352149106SCN5Ac.3771G>T (p.Trp1257Cys)
c.3774G>T (p.Trp1258Cys)
c.3612G>T (p.Trp1204Cys)
c.3645G>T (p.Trp1215Cys)
 COSMIC COSMIC COSMIC
3g.38566475C=CA1358569574SCN5Ac.3771G= (p.Trp1257=)
c.3774G= (p.Trp1258=)
c.3612G= (p.Trp1204=)
c.3645G= (p.Trp1215=)
3g.38566475C>GCA352149108SCN5Ac.3771G>C (p.Trp1257Cys)
c.3774G>C (p.Trp1258Cys)
c.3612G>C (p.Trp1204Cys)
c.3645G>C (p.Trp1215Cys)
3g.38566475C>TCA352149110SCN5Ac.3771G>A (p.Trp1257Ter)
c.3774G>A (p.Trp1258Ter)
c.3612G>A (p.Trp1204Ter)
c.3645G>A (p.Trp1215Ter)
 dbSNP COSMIC COSMIC COSMIC
3g.38566476C>ACA352149115SCN5Ac.3770G>T (p.Trp1257Leu)
c.3773G>T (p.Trp1258Leu)
c.3611G>T (p.Trp1204Leu)
c.3644G>T (p.Trp1215Leu)
3g.38566476C>GCA352149113SCN5Ac.3770G>C (p.Trp1257Ser)
c.3773G>C (p.Trp1258Ser)
c.3611G>C (p.Trp1204Ser)
c.3644G>C (p.Trp1215Ser)
 gnomAD v4
3g.38566476C>TCA352149114SCN5Ac.3770G>A (p.Trp1257Ter)
c.3773G>A (p.Trp1258Ter)
c.3611G>A (p.Trp1204Ter)
c.3644G>A (p.Trp1215Ter)
3g.38566477A>CCA352149117SCN5Ac.3769T>G (p.Trp1257Gly)
c.3772T>G (p.Trp1258Gly)
c.3610T>G (p.Trp1204Gly)
c.3643T>G (p.Trp1215Gly)
3g.38566477A>GCA352149119SCN5Ac.3769T>C (p.Trp1257Arg)
c.3772T>C (p.Trp1258Arg)
c.3610T>C (p.Trp1204Arg)
c.3643T>C (p.Trp1215Arg)
3g.38566477A>TCA352149120SCN5Ac.3769T>A (p.Trp1257Arg)
c.3772T>A (p.Trp1258Arg)
c.3610T>A (p.Trp1204Arg)
c.3643T>A (p.Trp1215Arg)
 gnomAD v4
3g.38566478C>ACA352149123SCN5Ac.3768G>T (p.Lys1256Asn)
c.3771G>T (p.Lys1257Asn)
c.3609G>T (p.Lys1203Asn)
c.3642G>T (p.Lys1214Asn)
3g.38566478C>GCA352149125SCN5Ac.3768G>C (p.Lys1256Asn)
c.3771G>C (p.Lys1257Asn)
c.3609G>C (p.Lys1203Asn)
c.3642G>C (p.Lys1214Asn)
3g.38566478C>TCA433136767SCN5Ac.3768G>A (p.Lys1256=)
c.3771G>A (p.Lys1257=)
c.3609G>A (p.Lys1203=)
c.3642G>A (p.Lys1214=)
 gnomAD v4
3g.38566479T>ACA352149128SCN5Ac.3767A>T (p.Lys1256Met)
c.3770A>T (p.Lys1257Met)
c.3608A>T (p.Lys1203Met)
c.3641A>T (p.Lys1214Met)
3g.38566479T>CCA352149131SCN5Ac.3767A>G (p.Lys1256Arg)
c.3770A>G (p.Lys1257Arg)
c.3608A>G (p.Lys1203Arg)
c.3641A>G (p.Lys1214Arg)
3g.38566479T>GCA352149129SCN5Ac.3767A>C (p.Lys1256Thr)
c.3770A>C (p.Lys1257Thr)
c.3608A>C (p.Lys1203Thr)
c.3641A>C (p.Lys1214Thr)
3g.38566480T>ACA352149134SCN5Ac.3766A>T (p.Lys1256Ter)
c.3769A>T (p.Lys1257Ter)
c.3607A>T (p.Lys1203Ter)
c.3640A>T (p.Lys1214Ter)
 dbSNP
3g.38566480T>CCA352149135SCN5Ac.3766A>G (p.Lys1256Glu)
c.3769A>G (p.Lys1257Glu)
c.3607A>G (p.Lys1203Glu)
c.3640A>G (p.Lys1214Glu)
3g.38566480T>GCA352149137SCN5Ac.3766A>C (p.Lys1256Gln)
c.3769A>C (p.Lys1257Gln)
c.3607A>C (p.Lys1203Gln)
c.3640A>C (p.Lys1214Gln)
 gnomAD v4
3g.38566480T=CA1358569578SCN5Ac.3766A= (p.Lys1256=)
c.3769A= (p.Lys1257=)
c.3607A= (p.Lys1203=)
c.3640A= (p.Lys1214=)
3g.38566481G>ACA433136773SCN5Ac.3765C>T (p.Leu1255=)
c.3768C>T (p.Leu1256=)
c.3606C>T (p.Leu1202=)
c.3639C>T (p.Leu1213=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38566481G>CCA433136774SCN5Ac.3765C>G (p.Leu1255=)
c.3768C>G (p.Leu1256=)
c.3606C>G (p.Leu1202=)
c.3639C>G (p.Leu1213=)
3g.38566481G=CA1358569584SCN5Ac.3765C= (p.Leu1255=)
c.3768C= (p.Leu1256=)
c.3606C= (p.Leu1202=)
c.3639C= (p.Leu1213=)
3g.38566481G>TCA062265SCN5Ac.3765C>A (p.Leu1255=)
c.3768C>A (p.Leu1256=)
c.3606C>A (p.Leu1202=)
c.3639C>A (p.Leu1213=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38566482A>CCA352149140SCN5Ac.3764T>G (p.Leu1255Arg)
c.3767T>G (p.Leu1256Arg)
c.3605T>G (p.Leu1202Arg)
c.3638T>G (p.Leu1213Arg)
3g.38566482A>GCA352149142SCN5Ac.3764T>C (p.Leu1255Pro)
c.3767T>C (p.Leu1256Pro)
c.3605T>C (p.Leu1202Pro)
c.3638T>C (p.Leu1213Pro)
 gnomAD v4
3g.38566482A>TCA352149144SCN5Ac.3764T>A (p.Leu1255His)
c.3767T>A (p.Leu1256His)
c.3605T>A (p.Leu1202His)
c.3638T>A (p.Leu1213His)
3g.38566483G>ACA352149146SCN5Ac.3763C>T (p.Leu1255Phe)
c.3766C>T (p.Leu1256Phe)
c.3604C>T (p.Leu1202Phe)
c.3637C>T (p.Leu1213Phe)
 gnomAD v4
3g.38566483G>CCA352149148SCN5Ac.3763C>G (p.Leu1255Val)
c.3766C>G (p.Leu1256Val)
c.3604C>G (p.Leu1202Val)
c.3637C>G (p.Leu1213Val)
3g.38566483G>TCA352149150SCN5Ac.3763C>A (p.Leu1255Ile)
c.3766C>A (p.Leu1256Ile)
c.3604C>A (p.Leu1202Ile)
c.3637C>A (p.Leu1213Ile)
3g.38566484delCA2499216737SCN5Ac.3762del (p.Leu1255SerfsTer24)
c.3765del (p.Leu1256SerfsTer24)
c.3603del (p.Leu1202SerfsTer24)
c.3636del (p.Leu1213SerfsTer24)
 ClinVar dbSNP
3g.38566484C>ACA433136783SCN5Ac.3762G>T (p.Leu1254=)
c.3765G>T (p.Leu1255=)
c.3603G>T (p.Leu1201=)
c.3636G>T (p.Leu1212=)
3g.38566484C=CA1358569590SCN5Ac.3762G= (p.Leu1254=)
c.3765G= (p.Leu1255=)
c.3603G= (p.Leu1201=)
c.3636G= (p.Leu1212=)
3g.38566484C>GCA433136782SCN5Ac.3762G>C (p.Leu1254=)
c.3765G>C (p.Leu1255=)
c.3603G>C (p.Leu1201=)
c.3636G>C (p.Leu1212=)
3g.38566484C>TCA433136779SCN5Ac.3762G>A (p.Leu1254=)
c.3765G>A (p.Leu1255=)
c.3603G>A (p.Leu1201=)
c.3636G>A (p.Leu1212=)
 dbSNP
3g.38566485A>CCA352149153SCN5Ac.3761T>G (p.Leu1254Arg)
c.3764T>G (p.Leu1255Arg)
c.3602T>G (p.Leu1201Arg)
c.3635T>G (p.Leu1212Arg)
3g.38566485A>GCA352149156SCN5Ac.3761T>C (p.Leu1254Pro)
c.3764T>C (p.Leu1255Pro)
c.3602T>C (p.Leu1201Pro)
c.3635T>C (p.Leu1212Pro)
 gnomAD v4
3g.38566485A>TCA352149155SCN5Ac.3761T>A (p.Leu1254Gln)
c.3764T>A (p.Leu1255Gln)
c.3602T>A (p.Leu1201Gln)
c.3635T>A (p.Leu1212Gln)
3g.38566486G>ACA433136786SCN5Ac.3760C>T (p.Leu1254=)
c.3763C>T (p.Leu1255=)
c.3601C>T (p.Leu1201=)
c.3634C>T (p.Leu1212=)
3g.38566486G>CCA352149158SCN5Ac.3760C>G (p.Leu1254Val)
c.3763C>G (p.Leu1255Val)
c.3601C>G (p.Leu1201Val)
c.3634C>G (p.Leu1212Val)
3g.38566486G=CA1358569595SCN5Ac.3760C= (p.Leu1254=)
c.3763C= (p.Leu1255=)
c.3601C= (p.Leu1201=)
c.3634C= (p.Leu1212=)
3g.38566486G>TCA062259SCN5Ac.3760C>A (p.Leu1254Met)
c.3763C>A (p.Leu1255Met)
c.3601C>A (p.Leu1201Met)
c.3634C>A (p.Leu1212Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38566487C>ACA352149162SCN5Ac.3759G>T (p.Met1253Ile)
c.3762G>T (p.Met1254Ile)
c.3600G>T (p.Met1200Ile)
c.3633G>T (p.Met1211Ile)
3g.38566487C>GCA352149163SCN5Ac.3759G>C (p.Met1253Ile)
c.3762G>C (p.Met1254Ile)
c.3600G>C (p.Met1200Ile)
c.3633G>C (p.Met1211Ile)
3g.38566487C>TCA352149164SCN5Ac.3759G>A (p.Met1253Ile)
c.3762G>A (p.Met1254Ile)
c.3600G>A (p.Met1200Ile)
c.3633G>A (p.Met1211Ile)
3g.38566488delCA2499216738SCN5Ac.3758del (p.Met1253SerfsTer26)
c.3761del (p.Met1254SerfsTer26)
c.3599del (p.Met1200SerfsTer26)
c.3632del (p.Met1211SerfsTer26)
 ClinVar dbSNP
3g.38566488A=CA1358569599SCN5Ac.3758T= (p.Met1253=)
c.3761T= (p.Met1254=)
c.3599T= (p.Met1200=)
c.3632T= (p.Met1211=)
3g.38566488A>CCA352149165SCN5Ac.3758T>G (p.Met1253Arg)
c.3761T>G (p.Met1254Arg)
c.3599T>G (p.Met1200Arg)
c.3632T>G (p.Met1211Arg)
3g.38566488A>GCA352149166SCN5Ac.3758T>C (p.Met1253Thr)
c.3761T>C (p.Met1254Thr)
c.3599T>C (p.Met1200Thr)
c.3632T>C (p.Met1211Thr)
3g.38566488A>TCA352149167SCN5Ac.3758T>A (p.Met1253Lys)
c.3761T>A (p.Met1254Lys)
c.3599T>A (p.Met1200Lys)
c.3632T>A (p.Met1211Lys)
 ClinVar dbSNP
3g.38566489T>ACA352149168SCN5Ac.3757A>T (p.Met1253Leu)
c.3760A>T (p.Met1254Leu)
c.3598A>T (p.Met1200Leu)
c.3631A>T (p.Met1211Leu)
3g.38566489T>CCA352149169SCN5Ac.3757A>G (p.Met1253Val)
c.3760A>G (p.Met1254Val)
c.3598A>G (p.Met1200Val)
c.3631A>G (p.Met1211Val)
3g.38566489T>GCA352149170SCN5Ac.3757A>C (p.Met1253Leu)
c.3760A>C (p.Met1254Leu)
c.3598A>C (p.Met1200Leu)
c.3631A>C (p.Met1211Leu)
3g.38566490C>ACA352149172SCN5Ac.3756G>T (p.Glu1252Asp)
c.3759G>T (p.Glu1253Asp)
c.3597G>T (p.Glu1199Asp)
c.3630G>T (p.Glu1210Asp)
3g.38566490C>GCA352149171SCN5Ac.3756G>C (p.Glu1252Asp)
c.3759G>C (p.Glu1253Asp)
c.3597G>C (p.Glu1199Asp)
c.3630G>C (p.Glu1210Asp)
3g.38566490C>TCA433136794SCN5Ac.3756G>A (p.Glu1252=)
c.3759G>A (p.Glu1253=)
c.3597G>A (p.Glu1199=)
c.3630G>A (p.Glu1210=)
3g.38566491T>ACA352149173SCN5Ac.3755A>T (p.Glu1252Val)
c.3758A>T (p.Glu1253Val)
c.3596A>T (p.Glu1199Val)
c.3629A>T (p.Glu1210Val)
3g.38566491T>CCA017500SCN5Ac.3755A>G (p.Glu1252Gly)
c.3758A>G (p.Glu1253Gly)
c.3596A>G (p.Glu1199Gly)
c.3629A>G (p.Glu1210Gly)
 ClinVar dbSNP
3g.38566491T>GCA352149174SCN5Ac.3755A>C (p.Glu1252Ala)
c.3758A>C (p.Glu1253Ala)
c.3596A>C (p.Glu1199Ala)
c.3629A>C (p.Glu1210Ala)
3g.38566491T=CA1358569603SCN5Ac.3755A= (p.Glu1252=)
c.3758A= (p.Glu1253=)
c.3596A= (p.Glu1199=)
c.3629A= (p.Glu1210=)
3g.38566492C>ACA352149175SCN5Ac.3754G>T (p.Glu1252Ter)
c.3757G>T (p.Glu1253Ter)
c.3595G>T (p.Glu1199Ter)
c.3628G>T (p.Glu1210Ter)
 dbSNP
3g.38566492C=CA1358569606SCN5Ac.3754G= (p.Glu1252=)
c.3757G= (p.Glu1253=)
c.3595G= (p.Glu1199=)
c.3628G= (p.Glu1210=)
3g.38566492C>GCA352149176SCN5Ac.3754G>C (p.Glu1252Gln)
c.3757G>C (p.Glu1253Gln)
c.3595G>C (p.Glu1199Gln)
c.3628G>C (p.Glu1210Gln)
3g.38566492C>TCA352149177SCN5Ac.3754G>A (p.Glu1252Lys)
c.3757G>A (p.Glu1253Lys)
c.3595G>A (p.Glu1199Lys)
c.3628G>A (p.Glu1210Lys)
 COSMIC COSMIC COSMIC
3g.38566493C>ACA433136801SCN5Ac.3753G>T (p.Leu1251=)
c.3756G>T (p.Leu1252=)
c.3594G>T (p.Leu1198=)
c.3627G>T (p.Leu1209=)
3g.38566493C=CA1358569609SCN5Ac.3753G= (p.Leu1251=)
c.3756G= (p.Leu1252=)
c.3594G= (p.Leu1198=)
c.3627G= (p.Leu1209=)
3g.38566493C>GCA433136803SCN5Ac.3753G>C (p.Leu1251=)
c.3756G>C (p.Leu1252=)
c.3594G>C (p.Leu1198=)
c.3627G>C (p.Leu1209=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38566493C>TCA433136804SCN5Ac.3753G>A (p.Leu1251=)
c.3756G>A (p.Leu1252=)
c.3594G>A (p.Leu1198=)
c.3627G>A (p.Leu1209=)
3g.38566494A>CCA352149178SCN5Ac.3752T>G (p.Leu1251Arg)
c.3755T>G (p.Leu1252Arg)
c.3593T>G (p.Leu1198Arg)
c.3626T>G (p.Leu1209Arg)
3g.38566494A>GCA352149179SCN5Ac.3752T>C (p.Leu1251Pro)
c.3755T>C (p.Leu1252Pro)
c.3593T>C (p.Leu1198Pro)
c.3626T>C (p.Leu1209Pro)
3g.38566494A>TCA352149180SCN5Ac.3752T>A (p.Leu1251Gln)
c.3755T>A (p.Leu1252Gln)
c.3593T>A (p.Leu1198Gln)
c.3626T>A (p.Leu1209Gln)
3g.38566495G>ACA433136806SCN5Ac.3751C>T (p.Leu1251=)
c.3754C>T (p.Leu1252=)
c.3592C>T (p.Leu1198=)
c.3625C>T (p.Leu1209=)
 ClinVar dbSNP
3g.38566495G>CCA352149181SCN5Ac.3751C>G (p.Leu1251Val)
c.3754C>G (p.Leu1252Val)
c.3592C>G (p.Leu1198Val)
c.3625C>G (p.Leu1209Val)
3g.38566495G=CA1358569617SCN5Ac.3751C= (p.Leu1251=)
c.3754C= (p.Leu1252=)
c.3592C= (p.Leu1198=)
c.3625C= (p.Leu1209=)
3g.38566495G>TCA352149182SCN5Ac.3751C>A (p.Leu1251Met)
c.3754C>A (p.Leu1252Met)
c.3592C>A (p.Leu1198Met)
c.3625C>A (p.Leu1209Met)
3g.38566496delCA2665111942SCN5Ac.3750del (p.Leu1251TrpfsTer28)
c.3753del (p.Leu1252TrpfsTer28)
c.3591del (p.Leu1198TrpfsTer28)
c.3624del (p.Leu1209TrpfsTer28)
 gnomAD v4
3g.38566496C>ACA433136809SCN5Ac.3750G>T (p.Val1250=)
c.3753G>T (p.Val1251=)
c.3591G>T (p.Val1197=)
c.3624G>T (p.Val1208=)
3g.38566496C>GCA433136811SCN5Ac.3750G>C (p.Val1250=)
c.3753G>C (p.Val1251=)
c.3591G>C (p.Val1197=)
c.3624G>C (p.Val1208=)
3g.38566496C>TCA433136810SCN5Ac.3750G>A (p.Val1250=)
c.3753G>A (p.Val1251=)
c.3591G>A (p.Val1197=)
c.3624G>A (p.Val1208=)
3g.38566497A>CCA352149184SCN5Ac.3749T>G (p.Val1250Gly)
c.3752T>G (p.Val1251Gly)
c.3590T>G (p.Val1197Gly)
c.3623T>G (p.Val1208Gly)
3g.38566497A>GCA352149185SCN5Ac.3749T>C (p.Val1250Ala)
c.3752T>C (p.Val1251Ala)
c.3590T>C (p.Val1197Ala)
c.3623T>C (p.Val1208Ala)
 gnomAD v4
3g.38566497A>TCA352149183SCN5Ac.3749T>A (p.Val1250Glu)
c.3752T>A (p.Val1251Glu)
c.3590T>A (p.Val1197Glu)
c.3623T>A (p.Val1208Glu)
3g.38566498C>ACA352149186SCN5Ac.3748G>T (p.Val1250Leu)
c.3751G>T (p.Val1251Leu)
c.3589G>T (p.Val1197Leu)
c.3622G>T (p.Val1208Leu)
 gnomAD v4
3g.38566498C=CA1358569624SCN5Ac.3748G= (p.Val1250=)
c.3751G= (p.Val1251=)
c.3589G= (p.Val1197=)
c.3622G= (p.Val1208=)
3g.38566498C>GCA352149187SCN5Ac.3748G>C (p.Val1250Leu)
c.3751G>C (p.Val1251Leu)
c.3589G>C (p.Val1197Leu)
c.3622G>C (p.Val1208Leu)
3g.38566498C>TCA017494SCN5Ac.3748G>A (p.Val1250Met)
c.3751G>A (p.Val1251Met)
c.3589G>A (p.Val1197Met)
c.3622G>A (p.Val1208Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38566499G>ACA062251SCN5Ac.3747C>T (p.Phe1249=)
c.3750C>T (p.Phe1250=)
c.3588C>T (p.Phe1196=)
c.3621C>T (p.Phe1207=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38566499G>CCA352149188SCN5Ac.3747C>G (p.Phe1249Leu)
c.3750C>G (p.Phe1250Leu)
c.3588C>G (p.Phe1196Leu)
c.3621C>G (p.Phe1207Leu)
 ClinVar dbSNP
3g.38566499G=CA1358569633SCN5Ac.3747C= (p.Phe1249=)
c.3750C= (p.Phe1250=)
c.3588C= (p.Phe1196=)
c.3621C= (p.Phe1207=)
3g.38566499G>TCA352149189SCN5Ac.3747C>A (p.Phe1249Leu)
c.3750C>A (p.Phe1250Leu)
c.3588C>A (p.Phe1196Leu)
c.3621C>A (p.Phe1207Leu)
3g.38566500A>CCA352149190SCN5Ac.3746T>G (p.Phe1249Cys)
c.3749T>G (p.Phe1250Cys)
c.3587T>G (p.Phe1196Cys)
c.3620T>G (p.Phe1207Cys)
3g.38566500A>GCA352149191SCN5Ac.3746T>C (p.Phe1249Ser)
c.3749T>C (p.Phe1250Ser)
c.3587T>C (p.Phe1196Ser)
c.3620T>C (p.Phe1207Ser)
 gnomAD v4
3g.38566500A>TCA352149192SCN5Ac.3746T>A (p.Phe1249Tyr)
c.3749T>A (p.Phe1250Tyr)
c.3587T>A (p.Phe1196Tyr)
c.3620T>A (p.Phe1207Tyr)
3g.38566501A=CA1358569651SCN5Ac.3745T= (p.Phe1249=)
c.3748T= (p.Phe1250=)
c.3586T= (p.Phe1196=)
c.3619T= (p.Phe1207=)
3g.38566501A>CCA352149193SCN5Ac.3745T>G (p.Phe1249Val)
c.3748T>G (p.Phe1250Val)
c.3586T>G (p.Phe1196Val)
c.3619T>G (p.Phe1207Val)
3g.38566501A>GCA017490SCN5Ac.3745T>C (p.Phe1249Leu)
c.3748T>C (p.Phe1250Leu)
c.3586T>C (p.Phe1196Leu)
c.3619T>C (p.Phe1207Leu)
 ClinVar dbSNP
3g.38566501A>TCA352149194SCN5Ac.3745T>A (p.Phe1249Ile)
c.3748T>A (p.Phe1250Ile)
c.3586T>A (p.Phe1196Ile)
c.3619T>A (p.Phe1207Ile)
3g.38566502G>ACA433136818SCN5Ac.3744C>T (p.Val1248=)
c.3747C>T (p.Val1249=)
c.3585C>T (p.Val1195=)
c.3618C>T (p.Val1206=)
3g.38566502G>CCA433136820SCN5Ac.3744C>G (p.Val1248=)
c.3747C>G (p.Val1249=)
c.3585C>G (p.Val1195=)
c.3618C>G (p.Val1206=)
3g.38566502G>TCA433136821SCN5Ac.3744C>A (p.Val1248=)
c.3747C>A (p.Val1249=)
c.3585C>A (p.Val1195=)
c.3618C>A (p.Val1206=)
 COSMIC COSMIC COSMIC
3g.38566502_38566503delinsATCA2697550807SCN5Ac.3743_3744delinsAT (p.Val1248Asp)
c.3746_3747delinsAT (p.Val1249Asp)
c.3584_3585delinsAT (p.Val1195Asp)
c.3617_3618delinsAT (p.Val1206Asp)
 ClinVar
3g.38566503A=CA1358569658SCN5Ac.3743T= (p.Val1248=)
c.3746T= (p.Val1249=)
c.3584T= (p.Val1195=)
c.3617T= (p.Val1206=)
3g.38566503A>CCA352149196SCN5Ac.3743T>G (p.Val1248Gly)
c.3746T>G (p.Val1249Gly)
c.3584T>G (p.Val1195Gly)
c.3617T>G (p.Val1206Gly)
3g.38566503A>GCA352149195SCN5Ac.3743T>C (p.Val1248Ala)
c.3746T>C (p.Val1249Ala)
c.3584T>C (p.Val1195Ala)
c.3617T>C (p.Val1206Ala)
3g.38566503A>TCA017484SCN5Ac.3743T>A (p.Val1248Asp)
c.3746T>A (p.Val1249Asp)
c.3584T>A (p.Val1195Asp)
c.3617T>A (p.Val1206Asp)
 ClinVar dbSNP
3g.38566504C>ACA352149197SCN5Ac.3742G>T (p.Val1248Phe)
c.3745G>T (p.Val1249Phe)
c.3583G>T (p.Val1195Phe)
c.3616G>T (p.Val1206Phe)
3g.38566504C>GCA352149198SCN5Ac.3742G>C (p.Val1248Leu)
c.3745G>C (p.Val1249Leu)
c.3583G>C (p.Val1195Leu)
c.3616G>C (p.Val1206Leu)
3g.38566504C>TCA352149199SCN5Ac.3742G>A (p.Val1248Ile)
c.3745G>A (p.Val1249Ile)
c.3583G>A (p.Val1195Ile)
c.3616G>A (p.Val1206Ile)
3g.38566505A>CCA352149200SCN5Ac.3741T>G (p.Tyr1247Ter)
c.3744T>G (p.Tyr1248Ter)
c.3582T>G (p.Tyr1194Ter)
c.3615T>G (p.Tyr1205Ter)
3g.38566505A>GCA433136824SCN5Ac.3741T>C (p.Tyr1247=)
c.3744T>C (p.Tyr1248=)
c.3582T>C (p.Tyr1194=)
c.3615T>C (p.Tyr1205=)
3g.38566505A>TCA352149201SCN5Ac.3741T>A (p.Tyr1247Ter)
c.3744T>A (p.Tyr1248Ter)
c.3582T>A (p.Tyr1194Ter)
c.3615T>A (p.Tyr1205Ter)
3g.38566506T>ACA352149202SCN5Ac.3740A>T (p.Tyr1247Phe)
c.3743A>T (p.Tyr1248Phe)
c.3581A>T (p.Tyr1194Phe)
c.3614A>T (p.Tyr1205Phe)
 ClinVar
3g.38566506T>CCA352149203SCN5Ac.3740A>G (p.Tyr1247Cys)
c.3743A>G (p.Tyr1248Cys)
c.3581A>G (p.Tyr1194Cys)
c.3614A>G (p.Tyr1205Cys)
3g.38566506T>GCA352149204SCN5Ac.3740A>C (p.Tyr1247Ser)
c.3743A>C (p.Tyr1248Ser)
c.3581A>C (p.Tyr1194Ser)
c.3614A>C (p.Tyr1205Ser)
3g.38566507A>CCA352149205SCN5Ac.3739T>G (p.Tyr1247Asp)
c.3742T>G (p.Tyr1248Asp)
c.3580T>G (p.Tyr1194Asp)
c.3613T>G (p.Tyr1205Asp)
3g.38566507A>GCA352149206SCN5Ac.3739T>C (p.Tyr1247His)
c.3742T>C (p.Tyr1248His)
c.3580T>C (p.Tyr1194His)
c.3613T>C (p.Tyr1205His)
 gnomAD v4
3g.38566507A>TCA352149207SCN5Ac.3739T>A (p.Tyr1247Asn)
c.3742T>A (p.Tyr1248Asn)
c.3580T>A (p.Tyr1194Asn)
c.3613T>A (p.Tyr1205Asn)
3g.38566508T>ACA433136829SCN5Ac.3738A>T (p.Thr1246=)
c.3741A>T (p.Thr1247=)
c.3579A>T (p.Thr1193=)
c.3612A>T (p.Thr1204=)
3g.38566508T>CCA433136830SCN5Ac.3738A>G (p.Thr1246=)
c.3741A>G (p.Thr1247=)
c.3579A>G (p.Thr1193=)
c.3612A>G (p.Thr1204=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38566508T>GCA433136831SCN5Ac.3738A>C (p.Thr1246=)
c.3741A>C (p.Thr1247=)
c.3579A>C (p.Thr1193=)
c.3612A>C (p.Thr1204=)
 dbSNP
3g.38566508T=CA1358569667SCN5Ac.3738A= (p.Thr1246=)
c.3741A= (p.Thr1247=)
c.3579A= (p.Thr1193=)
c.3612A= (p.Thr1204=)
3g.38566509G>ACA062239SCN5Ac.3737C>T (p.Thr1246Ile)
c.3740C>T (p.Thr1247Ile)
c.3578C>T (p.Thr1193Ile)
c.3611C>T (p.Thr1204Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38566509G>CCA352149209SCN5Ac.3737C>G (p.Thr1246Arg)
c.3740C>G (p.Thr1247Arg)
c.3578C>G (p.Thr1193Arg)
c.3611C>G (p.Thr1204Arg)
3g.38566509G=CA1358569670SCN5Ac.3737C= (p.Thr1246=)
c.3740C= (p.Thr1247=)
c.3578C= (p.Thr1193=)
c.3611C= (p.Thr1204=)
3g.38566509G>TCA352149211SCN5Ac.3737C>A (p.Thr1246Lys)
c.3740C>A (p.Thr1247Lys)
c.3578C>A (p.Thr1193Lys)
c.3611C>A (p.Thr1204Lys)
3g.38566510T>ACA352149215SCN5Ac.3736A>T (p.Thr1246Ser)
c.3739A>T (p.Thr1247Ser)
c.3577A>T (p.Thr1193Ser)
c.3610A>T (p.Thr1204Ser)
3g.38566510T>CCA352149217SCN5Ac.3736A>G (p.Thr1246Ala)
c.3739A>G (p.Thr1247Ala)
c.3577A>G (p.Thr1193Ala)
c.3610A>G (p.Thr1204Ala)
3g.38566510T>GCA352149213SCN5Ac.3736A>C (p.Thr1246Pro)
c.3739A>C (p.Thr1247Pro)
c.3577A>C (p.Thr1193Pro)
c.3610A>C (p.Thr1204Pro)
3g.38566511G>ACA433136835SCN5Ac.3735C>T (p.Phe1245=)
c.3738C>T (p.Phe1246=)
c.3576C>T (p.Phe1192=)
c.3609C>T (p.Phe1203=)
 dbSNP gnomAD v2 gnomAD v4
3g.38566511G>CCA352149218SCN5Ac.3735C>G (p.Phe1245Leu)
c.3738C>G (p.Phe1246Leu)
c.3576C>G (p.Phe1192Leu)
c.3609C>G (p.Phe1203Leu)
3g.38566511G=CA1358569672SCN5Ac.3735C= (p.Phe1245=)
c.3738C= (p.Phe1246=)
c.3576C= (p.Phe1192=)
c.3609C= (p.Phe1203=)
3g.38566511G>TCA352149219SCN5Ac.3735C>A (p.Phe1245Leu)
c.3738C>A (p.Phe1246Leu)
c.3576C>A (p.Phe1192Leu)
c.3609C>A (p.Phe1203Leu)
3g.38566512A>CCA352149221SCN5Ac.3734T>G (p.Phe1245Cys)
c.3737T>G (p.Phe1246Cys)
c.3575T>G (p.Phe1192Cys)
c.3608T>G (p.Phe1203Cys)
3g.38566512A>GCA352149223SCN5Ac.3734T>C (p.Phe1245Ser)
c.3737T>C (p.Phe1246Ser)
c.3575T>C (p.Phe1192Ser)
c.3608T>C (p.Phe1203Ser)
3g.38566512A>TCA352149224SCN5Ac.3734T>A (p.Phe1245Tyr)
c.3737T>A (p.Phe1246Tyr)
c.3575T>A (p.Phe1192Tyr)
c.3608T>A (p.Phe1203Tyr)
3g.38566513A>CCA352149225SCN5Ac.3733T>G (p.Phe1245Val)
c.3736T>G (p.Phe1246Val)
c.3574T>G (p.Phe1192Val)
c.3607T>G (p.Phe1203Val)
3g.38566513A>GCA352149226SCN5Ac.3733T>C (p.Phe1245Leu)
c.3736T>C (p.Phe1246Leu)
c.3574T>C (p.Phe1192Leu)
c.3607T>C (p.Phe1203Leu)
3g.38566513A>TCA352149227SCN5Ac.3733T>A (p.Phe1245Ile)
c.3736T>A (p.Phe1246Ile)
c.3574T>A (p.Phe1192Ile)
c.3607T>A (p.Phe1203Ile)
3g.38566514C>ACA352149230SCN5Ac.3732G>T (p.Met1244Ile)
c.3735G>T (p.Met1245Ile)
c.3573G>T (p.Met1191Ile)
c.3606G>T (p.Met1202Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38566514C=CA1358569675SCN5Ac.3732G= (p.Met1244=)
c.3735G= (p.Met1245=)
c.3573G= (p.Met1191=)
c.3606G= (p.Met1202=)
3g.38566514C>GCA352149231SCN5Ac.3732G>C (p.Met1244Ile)
c.3735G>C (p.Met1245Ile)
c.3573G>C (p.Met1191Ile)
c.3606G>C (p.Met1202Ile)
3g.38566514C>TCA062231SCN5Ac.3732G>A (p.Met1244Ile)
c.3735G>A (p.Met1245Ile)
c.3573G>A (p.Met1191Ile)
c.3606G>A (p.Met1202Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38566515A=CA1358569679SCN5Ac.3731T= (p.Met1244=)
c.3734T= (p.Met1245=)
c.3572T= (p.Met1191=)
c.3605T= (p.Met1202=)
3g.38566515A>CCA352149238SCN5Ac.3731T>G (p.Met1244Arg)
c.3734T>G (p.Met1245Arg)
c.3572T>G (p.Met1191Arg)
c.3605T>G (p.Met1202Arg)
 ClinVar dbSNP
3g.38566515A>GCA352149237SCN5Ac.3731T>C (p.Met1244Thr)
c.3734T>C (p.Met1245Thr)
c.3572T>C (p.Met1191Thr)
c.3605T>C (p.Met1202Thr)
3g.38566515A>TCA352149235SCN5Ac.3731T>A (p.Met1244Lys)
c.3734T>A (p.Met1245Lys)
c.3572T>A (p.Met1191Lys)
c.3605T>A (p.Met1202Lys)
3g.38566516T>ACA352149241SCN5Ac.3730A>T (p.Met1244Leu)
c.3733A>T (p.Met1245Leu)
c.3571A>T (p.Met1191Leu)
c.3604A>T (p.Met1202Leu)
 dbSNP gnomAD v4
3g.38566516T>CCA352149242SCN5Ac.3730A>G (p.Met1244Val)
c.3733A>G (p.Met1245Val)
c.3571A>G (p.Met1191Val)
c.3604A>G (p.Met1202Val)
 dbSNP
3g.38566516T>GCA352149245SCN5Ac.3730A>C (p.Met1244Leu)
c.3733A>C (p.Met1245Leu)
c.3571A>C (p.Met1191Leu)
c.3604A>C (p.Met1202Leu)
3g.38566516T=CA1358569684SCN5Ac.3730A= (p.Met1244=)
c.3733A= (p.Met1245=)
c.3571A= (p.Met1191=)
c.3604A= (p.Met1202=)
3g.38566517C>ACA352149247SCN5Ac.3729G>T (p.Lys1243Asn)
c.3732G>T (p.Lys1244Asn)
c.3570G>T (p.Lys1190Asn)
c.3603G>T (p.Lys1201Asn)
3g.38566517C>GCA352149249SCN5Ac.3729G>C (p.Lys1243Asn)
c.3732G>C (p.Lys1244Asn)
c.3570G>C (p.Lys1190Asn)
c.3603G>C (p.Lys1201Asn)
3g.38566517C>TCA433136850SCN5Ac.3729G>A (p.Lys1243=)
c.3732G>A (p.Lys1244=)
c.3570G>A (p.Lys1190=)
c.3603G>A (p.Lys1201=)
3g.38566518T>ACA352149252SCN5Ac.3728A>T (p.Lys1243Met)
c.3731A>T (p.Lys1244Met)
c.3569A>T (p.Lys1190Met)
c.3602A>T (p.Lys1201Met)
3g.38566518T>CCA352149253SCN5Ac.3728A>G (p.Lys1243Arg)
c.3731A>G (p.Lys1244Arg)
c.3569A>G (p.Lys1190Arg)
c.3602A>G (p.Lys1201Arg)
3g.38566518T>GCA352149254SCN5Ac.3728A>C (p.Lys1243Thr)
c.3731A>C (p.Lys1244Thr)
c.3569A>C (p.Lys1190Thr)
c.3602A>C (p.Lys1201Thr)
 ClinVar dbSNP
3g.38566518T=CA1358569686SCN5Ac.3728A= (p.Lys1243=)
c.3731A= (p.Lys1244=)
c.3569A= (p.Lys1190=)
c.3602A= (p.Lys1201=)
3g.38566519T>ACA352149255SCN5Ac.3727A>T (p.Lys1243Ter)
c.3730A>T (p.Lys1244Ter)
c.3568A>T (p.Lys1190Ter)
c.3601A>T (p.Lys1201Ter)
3g.38566519T>CCA352149257SCN5Ac.3727A>G (p.Lys1243Glu)
c.3730A>G (p.Lys1244Glu)
c.3568A>G (p.Lys1190Glu)
c.3601A>G (p.Lys1201Glu)
 dbSNP gnomAD v4
3g.38566519T>GCA352149258SCN5Ac.3727A>C (p.Lys1243Gln)
c.3730A>C (p.Lys1244Gln)
c.3568A>C (p.Lys1190Gln)
c.3601A>C (p.Lys1201Gln)
3g.38566519T=CA1358569690SCN5Ac.3727A= (p.Lys1243=)
c.3730A= (p.Lys1244=)
c.3568A= (p.Lys1190=)
c.3601A= (p.Lys1201=)
3g.38566520G>ACA433136856SCN5Ac.3726C>T (p.Asp1242=)
c.3729C>T (p.Asp1243=)
c.3567C>T (p.Asp1189=)
c.3600C>T (p.Asp1200=)
3g.38566520G>CCA352149260SCN5Ac.3726C>G (p.Asp1242Glu)
c.3729C>G (p.Asp1243Glu)
c.3567C>G (p.Asp1189Glu)
c.3600C>G (p.Asp1200Glu)
 ClinVar dbSNP gnomAD v4
3g.38566520G=CA1358569693SCN5Ac.3726C= (p.Asp1242=)
c.3729C= (p.Asp1243=)
c.3567C= (p.Asp1189=)
c.3600C= (p.Asp1200=)
3g.38566520G>TCA352149262SCN5Ac.3726C>A (p.Asp1242Glu)
c.3729C>A (p.Asp1243Glu)
c.3567C>A (p.Asp1189Glu)
c.3600C>A (p.Asp1200Glu)
3g.38566521_38566523delCA2580069777SCN5Ac.3724_3726del (p.Asp1242del)
c.3727_3729del (p.Asp1243del)
c.3565_3567del (p.Asp1189del)
c.3598_3600del (p.Asp1200del)
 ClinVar
3g.38566521T>ACA352149266SCN5Ac.3725A>T (p.Asp1242Val)
c.3728A>T (p.Asp1243Val)
c.3566A>T (p.Asp1189Val)
c.3599A>T (p.Asp1200Val)
 ClinVar
3g.38566521T>CCA352149268SCN5Ac.3725A>G (p.Asp1242Gly)
c.3728A>G (p.Asp1243Gly)
c.3566A>G (p.Asp1189Gly)
c.3599A>G (p.Asp1200Gly)
 ClinVar dbSNP gnomAD v4
3g.38566521T>GCA352149264SCN5Ac.3725A>C (p.Asp1242Ala)
c.3728A>C (p.Asp1243Ala)
c.3566A>C (p.Asp1189Ala)
c.3599A>C (p.Asp1200Ala)
3g.38566521T=CA1358569698SCN5Ac.3725A= (p.Asp1242=)
c.3728A= (p.Asp1243=)
c.3566A= (p.Asp1189=)
c.3599A= (p.Asp1200=)
3g.38566522C>ACA352149270SCN5Ac.3724G>T (p.Asp1242Tyr)
c.3727G>T (p.Asp1243Tyr)
c.3565G>T (p.Asp1189Tyr)
c.3598G>T (p.Asp1200Tyr)
 ClinVar
3g.38566522C=CA1358569704SCN5Ac.3724G= (p.Asp1242=)
c.3727G= (p.Asp1243=)
c.3565G= (p.Asp1189=)
c.3598G= (p.Asp1200=)
3g.38566522C>GCA352149272SCN5Ac.3724G>C (p.Asp1242His)
c.3727G>C (p.Asp1243His)
c.3565G>C (p.Asp1189His)
c.3598G>C (p.Asp1200His)
3g.38566522C>TCA017472SCN5Ac.3724G>A (p.Asp1242Asn)
c.3727G>A (p.Asp1243Asn)
c.3565G>A (p.Asp1189Asn)
c.3598G>A (p.Asp1200Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38566523G>ACA062223SCN5Ac.3723C>T (p.Ala1241=)
c.3726C>T (p.Ala1242=)
c.3564C>T (p.Ala1188=)
c.3597C>T (p.Ala1199=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38566523G>CCA433136863SCN5Ac.3723C>G (p.Ala1241=)
c.3726C>G (p.Ala1242=)
c.3564C>G (p.Ala1188=)
c.3597C>G (p.Ala1199=)
 ClinVar
3g.38566523G=CA1358569709SCN5Ac.3723C= (p.Ala1241=)
c.3726C= (p.Ala1242=)
c.3564C= (p.Ala1188=)
c.3597C= (p.Ala1199=)
3g.38566523G>TCA433136865SCN5Ac.3723C>A (p.Ala1241=)
c.3726C>A (p.Ala1242=)
c.3564C>A (p.Ala1188=)
c.3597C>A (p.Ala1199=)
3g.38566524G>ACA352149277SCN5Ac.3722C>T (p.Ala1241Val)
c.3725C>T (p.Ala1242Val)
c.3563C>T (p.Ala1188Val)
c.3596C>T (p.Ala1199Val)
 COSMIC COSMIC COSMIC
3g.38566524G>CCA352149279SCN5Ac.3722C>G (p.Ala1241Gly)
c.3725C>G (p.Ala1242Gly)
c.3563C>G (p.Ala1188Gly)
c.3596C>G (p.Ala1199Gly)
 gnomAD v4
3g.38566524G>TCA352149280SCN5Ac.3722C>A (p.Ala1241Asp)
c.3725C>A (p.Ala1242Asp)
c.3563C>A (p.Ala1188Asp)
c.3596C>A (p.Ala1199Asp)
3g.38566525C>ACA352149282SCN5Ac.3721G>T (p.Ala1241Ser)
c.3724G>T (p.Ala1242Ser)
c.3562G>T (p.Ala1188Ser)
c.3595G>T (p.Ala1199Ser)
3g.38566525C>GCA352149284SCN5Ac.3721G>C (p.Ala1241Pro)
c.3724G>C (p.Ala1242Pro)
c.3562G>C (p.Ala1188Pro)
c.3595G>C (p.Ala1199Pro)
3g.38566525C>TCA352149285SCN5Ac.3721G>A (p.Ala1241Thr)
c.3724G>A (p.Ala1242Thr)
c.3562G>A (p.Ala1188Thr)
c.3595G>A (p.Ala1199Thr)
3g.38566526A=CA1358569713SCN5Ac.3720T= (p.Tyr1240=)
c.3723T= (p.Tyr1241=)
c.3561T= (p.Tyr1187=)
c.3594T= (p.Tyr1198=)
3g.38566526A>CCA352149286SCN5Ac.3720T>G (p.Tyr1240Ter)
c.3723T>G (p.Tyr1241Ter)
c.3561T>G (p.Tyr1187Ter)
c.3594T>G (p.Tyr1198Ter)
3g.38566526A>GCA433136869SCN5Ac.3720T>C (p.Tyr1240=)
c.3723T>C (p.Tyr1241=)
c.3561T>C (p.Tyr1187=)
c.3594T>C (p.Tyr1198=)
 dbSNP gnomAD v2 gnomAD v4
3g.38566526A>TCA352149287SCN5Ac.3720T>A (p.Tyr1240Ter)
c.3723T>A (p.Tyr1241Ter)
c.3561T>A (p.Tyr1187Ter)
c.3594T>A (p.Tyr1198Ter)
3g.38566527T>ACA352149292SCN5Ac.3719A>T (p.Tyr1240Phe)
c.3722A>T (p.Tyr1241Phe)
c.3560A>T (p.Tyr1187Phe)
c.3593A>T (p.Tyr1198Phe)
3g.38566527T>CCA352149290SCN5Ac.3719A>G (p.Tyr1240Cys)
c.3722A>G (p.Tyr1241Cys)
c.3560A>G (p.Tyr1187Cys)
c.3593A>G (p.Tyr1198Cys)
 ClinVar dbSNP gnomAD v4
3g.38566527T>GCA017466SCN5Ac.3719A>C (p.Tyr1240Ser)
c.3722A>C (p.Tyr1241Ser)
c.3560A>C (p.Tyr1187Ser)
c.3593A>C (p.Tyr1198Ser)
 ClinVar dbSNP gnomAD v4
3g.38566527T=CA1358569716SCN5Ac.3719A= (p.Tyr1240=)
c.3722A= (p.Tyr1241=)
c.3560A= (p.Tyr1187=)
c.3593A= (p.Tyr1198=)
3g.38566528A>CCA352149294SCN5Ac.3718T>G (p.Tyr1240Asp)
c.3721T>G (p.Tyr1241Asp)
c.3559T>G (p.Tyr1187Asp)
c.3592T>G (p.Tyr1198Asp)
3g.38566528A>GCA352149296SCN5Ac.3718T>C (p.Tyr1240His)
c.3721T>C (p.Tyr1241His)
c.3559T>C (p.Tyr1187His)
c.3592T>C (p.Tyr1198His)
3g.38566528A>TCA352149298SCN5Ac.3718T>A (p.Tyr1240Asn)
c.3721T>A (p.Tyr1241Asn)
c.3559T>A (p.Tyr1187Asn)
c.3592T>A (p.Tyr1198Asn)
 COSMIC
3g.38566529C>ACA352149300SCN5Ac.3717G>T (p.Glu1239Asp)
c.3720G>T (p.Glu1240Asp)
c.3558G>T (p.Glu1186Asp)
c.3591G>T (p.Glu1197Asp)
3g.38566529C>GCA352149301SCN5Ac.3717G>C (p.Glu1239Asp)
c.3720G>C (p.Glu1240Asp)
c.3558G>C (p.Glu1186Asp)
c.3591G>C (p.Glu1197Asp)
3g.38566529C>TCA433136878SCN5Ac.3717G>A (p.Glu1239=)
c.3720G>A (p.Glu1240=)
c.3558G>A (p.Glu1186=)
c.3591G>A (p.Glu1197=)
3g.38566530T>ACA352149304SCN5Ac.3716A>T (p.Glu1239Val)
c.3719A>T (p.Glu1240Val)
c.3557A>T (p.Glu1186Val)
c.3590A>T (p.Glu1197Val)
3g.38566530T>CCA352149306SCN5Ac.3716A>G (p.Glu1239Gly)
c.3719A>G (p.Glu1240Gly)
c.3557A>G (p.Glu1186Gly)
c.3590A>G (p.Glu1197Gly)
3g.38566530T>GCA352149308SCN5Ac.3716A>C (p.Glu1239Ala)
c.3719A>C (p.Glu1240Ala)
c.3557A>C (p.Glu1186Ala)
c.3590A>C (p.Glu1197Ala)
 dbSNP
3g.38566530T=CA1358569721SCN5Ac.3716A= (p.Glu1239=)
c.3719A= (p.Glu1240=)
c.3557A= (p.Glu1186=)
c.3590A= (p.Glu1197=)
3g.38566531C>ACA352149310SCN5Ac.3715G>T (p.Glu1239Ter)
c.3718G>T (p.Glu1240Ter)
c.3556G>T (p.Glu1186Ter)
c.3589G>T (p.Glu1197Ter)
 dbSNP
3g.38566531C=CA1358569731SCN5Ac.3715G= (p.Glu1239=)
c.3718G= (p.Glu1240=)
c.3556G= (p.Glu1186=)
c.3589G= (p.Glu1197=)
3g.38566531C>GCA017461SCN5Ac.3715G>C (p.Glu1239Gln)
c.3718G>C (p.Glu1240Gln)
c.3556G>C (p.Glu1186Gln)
c.3589G>C (p.Glu1197Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38566531C>TCA352149312SCN5Ac.3715G>A (p.Glu1239Lys)
c.3718G>A (p.Glu1240Lys)
c.3556G>A (p.Glu1186Lys)
c.3589G>A (p.Glu1197Lys)
3g.38566532A>CCA433136881SCN5Ac.3714T>G (p.Leu1238=)
c.3717T>G (p.Leu1239=)
c.3555T>G (p.Leu1185=)
c.3588T>G (p.Leu1196=)
 gnomAD v4
3g.38566532A>GCA433136884SCN5Ac.3714T>C (p.Leu1238=)
c.3717T>C (p.Leu1239=)
c.3555T>C (p.Leu1185=)
c.3588T>C (p.Leu1196=)
3g.38566532A>TCA433136883SCN5Ac.3714T>A (p.Leu1238=)
c.3717T>A (p.Leu1239=)
c.3555T>A (p.Leu1185=)
c.3588T>A (p.Leu1196=)
3g.38566533delCA2577553238SCN5Ac.3714del (p.Glu1239SerfsTer?)
c.3717del (p.Glu1240SerfsTer?)
c.3555del (p.Glu1186SerfsTer?)
c.3588del (p.Glu1197SerfsTer?)
3g.38566533A=CA1358569733SCN5Ac.3713T= (p.Leu1238=)
c.3716T= (p.Leu1239=)
c.3554T= (p.Leu1185=)
c.3587T= (p.Leu1196=)
3g.38566533A>CCA352149314SCN5Ac.3713T>G (p.Leu1238Arg)
c.3716T>G (p.Leu1239Arg)
c.3554T>G (p.Leu1185Arg)
c.3587T>G (p.Leu1196Arg)
3g.38566533A>GCA017455SCN5Ac.3713T>C (p.Leu1238Pro)
c.3716T>C (p.Leu1239Pro)
c.3554T>C (p.Leu1185Pro)
c.3587T>C (p.Leu1196Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38566533A>TCA352149316SCN5Ac.3713T>A (p.Leu1238His)
c.3716T>A (p.Leu1239His)
c.3554T>A (p.Leu1185His)
c.3587T>A (p.Leu1196His)
3g.38566534G>ACA352149322SCN5Ac.3712C>T (p.Leu1238Phe)
c.3715C>T (p.Leu1239Phe)
c.3553C>T (p.Leu1185Phe)
c.3586C>T (p.Leu1196Phe)
 gnomAD v4
3g.38566534G>CCA352149320SCN5Ac.3712C>G (p.Leu1238Val)
c.3715C>G (p.Leu1239Val)
c.3553C>G (p.Leu1185Val)
c.3586C>G (p.Leu1196Val)
3g.38566534G>TCA352149319SCN5Ac.3712C>A (p.Leu1238Ile)
c.3715C>A (p.Leu1239Ile)
c.3553C>A (p.Leu1185Ile)
c.3586C>A (p.Leu1196Ile)
3g.38566535C>ACA433136888SCN5Ac.3711G>T (p.Leu1237=)
c.3714G>T (p.Leu1238=)
c.3552G>T (p.Leu1184=)
c.3585G>T (p.Leu1195=)
3g.38566535C=CA1358569738SCN5Ac.3711G= (p.Leu1237=)
c.3714G= (p.Leu1238=)
c.3552G= (p.Leu1184=)
c.3585G= (p.Leu1195=)
3g.38566535C>GCA433136890SCN5Ac.3711G>C (p.Leu1237=)
c.3714G>C (p.Leu1238=)
c.3552G>C (p.Leu1184=)
c.3585G>C (p.Leu1195=)
3g.38566535C>TCA433136889SCN5Ac.3711G>A (p.Leu1237=)
c.3714G>A (p.Leu1238=)
c.3552G>A (p.Leu1184=)
c.3585G>A (p.Leu1195=)
 dbSNP gnomAD v4
3g.38566536A>CCA352149325SCN5Ac.3710T>G (p.Leu1237Arg)
c.3713T>G (p.Leu1238Arg)
c.3551T>G (p.Leu1184Arg)
c.3584T>G (p.Leu1195Arg)
3g.38566536A>GCA352149327SCN5Ac.3710T>C (p.Leu1237Pro)
c.3713T>C (p.Leu1238Pro)
c.3551T>C (p.Leu1184Pro)
c.3584T>C (p.Leu1195Pro)
3g.38566536A>TCA352149329SCN5Ac.3710T>A (p.Leu1237Gln)
c.3713T>A (p.Leu1238Gln)
c.3551T>A (p.Leu1184Gln)
c.3584T>A (p.Leu1195Gln)
3g.38566537G>ACA433136892SCN5Ac.3709C>T (p.Leu1237=)
c.3712C>T (p.Leu1238=)
c.3550C>T (p.Leu1184=)
c.3583C>T (p.Leu1195=)
3g.38566537G>CCA352149331SCN5Ac.3709C>G (p.Leu1237Val)
c.3712C>G (p.Leu1238Val)
c.3550C>G (p.Leu1184Val)
c.3583C>G (p.Leu1195Val)
3g.38566537G>TCA352149333SCN5Ac.3709C>A (p.Leu1237Met)
c.3712C>A (p.Leu1238Met)
c.3550C>A (p.Leu1184Met)
c.3583C>A (p.Leu1195Met)
 gnomAD v4
3g.38566538A>CCA433136894SCN5Ac.3708T>G (p.Val1236=)
c.3711T>G (p.Val1237=)
c.3549T>G (p.Val1183=)
c.3582T>G (p.Val1194=)
3g.38566538A>GCA433136895SCN5Ac.3708T>C (p.Val1236=)
c.3711T>C (p.Val1237=)
c.3549T>C (p.Val1183=)
c.3582T>C (p.Val1194=)
3g.38566538A>TCA433136896SCN5Ac.3708T>A (p.Val1236=)
c.3711T>A (p.Val1237=)
c.3549T>A (p.Val1183=)
c.3582T>A (p.Val1194=)
3g.38566539A>CCA352149335SCN5Ac.3707T>G (p.Val1236Gly)
c.3710T>G (p.Val1237Gly)
c.3548T>G (p.Val1183Gly)
c.3581T>G (p.Val1194Gly)
3g.38566539A>GCA352149337SCN5Ac.3707T>C (p.Val1236Ala)
c.3710T>C (p.Val1237Ala)
c.3548T>C (p.Val1183Ala)
c.3581T>C (p.Val1194Ala)
 ClinVar dbSNP gnomAD v4
3g.38566539A>TCA352149339SCN5Ac.3707T>A (p.Val1236Asp)
c.3710T>A (p.Val1237Asp)
c.3548T>A (p.Val1183Asp)
c.3581T>A (p.Val1194Asp)

Number of alleles fetched