Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38575347_38575386delinsAGCTGTGCTCCACGATGTGGTAGCAGGTCTTGCGCAACCGCA1358572542SCN5Ac.3574_3613delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1192=)
c.3577_3616delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1193=)
c.3415_3454delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1139=)
c.3448_3487delinsCGGTTGCGCAAGACCTGCTACCACATCGTGGAGCACAGCT (p.Arg1150=)
3g.38575348_38575386delCA1047000738SCN5Ac.3574_3612del (p.Arg1192_Ser1204del)
c.3577_3615del (p.Arg1193_Ser1205del)
c.3415_3453del (p.Arg1139_Ser1151del)
c.3448_3486del (p.Arg1150_Ser1162del)
 dbSNP gnomAD v3 gnomAD v4
3g.38575360G>ACA062081SCN5Ac.3600C>T (p.Ile1200=)
c.3603C>T (p.Ile1201=)
c.3441C>T (p.Ile1147=)
c.3474C>T (p.Ile1158=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38575360G>CCA062076SCN5Ac.3600C>G (p.Ile1200Met)
c.3603C>G (p.Ile1201Met)
c.3441C>G (p.Ile1147Met)
c.3474C>G (p.Ile1158Met)
 dbSNP ExAC gnomAD v2
3g.38575360G=CA1358572547SCN5Ac.3600C= (p.Ile1200=)
c.3603C= (p.Ile1201=)
c.3441C= (p.Ile1147=)
c.3474C= (p.Ile1158=)
3g.38575360G>TCA433134032SCN5Ac.3600C>A (p.Ile1200=)
c.3603C>A (p.Ile1201=)
c.3441C>A (p.Ile1147=)
c.3474C>A (p.Ile1158=)
3g.38575361A>CCA352138114SCN5Ac.3599T>G (p.Ile1200Ser)
c.3602T>G (p.Ile1201Ser)
c.3440T>G (p.Ile1147Ser)
c.3473T>G (p.Ile1158Ser)
3g.38575361A>GCA352138112SCN5Ac.3599T>C (p.Ile1200Thr)
c.3602T>C (p.Ile1201Thr)
c.3440T>C (p.Ile1147Thr)
c.3473T>C (p.Ile1158Thr)
3g.38575361A>TCA352138113SCN5Ac.3599T>A (p.Ile1200Asn)
c.3602T>A (p.Ile1201Asn)
c.3440T>A (p.Ile1147Asn)
c.3473T>A (p.Ile1158Asn)
3g.38575362T>ACA352138115SCN5Ac.3598A>T (p.Ile1200Phe)
c.3601A>T (p.Ile1201Phe)
c.3439A>T (p.Ile1147Phe)
c.3472A>T (p.Ile1158Phe)
 ClinVar dbSNP gnomAD v4
3g.38575362T>CCA352138116SCN5Ac.3598A>G (p.Ile1200Val)
c.3601A>G (p.Ile1201Val)
c.3439A>G (p.Ile1147Val)
c.3472A>G (p.Ile1158Val)
3g.38575362T>GCA352138117SCN5Ac.3598A>C (p.Ile1200Leu)
c.3601A>C (p.Ile1201Leu)
c.3439A>C (p.Ile1147Leu)
c.3472A>C (p.Ile1158Leu)
3g.38575363G>ACA433134033SCN5Ac.3597C>T (p.His1199=)
c.3600C>T (p.His1200=)
c.3438C>T (p.His1146=)
c.3471C>T (p.His1157=)
3g.38575363G>CCA352138118SCN5Ac.3597C>G (p.His1199Gln)
c.3600C>G (p.His1200Gln)
c.3438C>G (p.His1146Gln)
c.3471C>G (p.His1157Gln)
3g.38575363G>TCA352138119SCN5Ac.3597C>A (p.His1199Gln)
c.3600C>A (p.His1200Gln)
c.3438C>A (p.His1146Gln)
c.3471C>A (p.His1157Gln)
3g.38575364T>ACA352138120SCN5Ac.3596A>T (p.His1199Leu)
c.3599A>T (p.His1200Leu)
c.3437A>T (p.His1146Leu)
c.3470A>T (p.His1157Leu)
3g.38575364T>CCA352138121SCN5Ac.3596A>G (p.His1199Arg)
c.3599A>G (p.His1200Arg)
c.3437A>G (p.His1146Arg)
c.3470A>G (p.His1157Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38575364T>GCA352138122SCN5Ac.3596A>C (p.His1199Pro)
c.3599A>C (p.His1200Pro)
c.3437A>C (p.His1146Pro)
c.3470A>C (p.His1157Pro)
3g.38575364T=CA1358572548SCN5Ac.3596A= (p.His1199=)
c.3599A= (p.His1200=)
c.3437A= (p.His1146=)
c.3470A= (p.His1157=)
3g.38575365G>ACA352138123SCN5Ac.3595C>T (p.His1199Tyr)
c.3598C>T (p.His1200Tyr)
c.3436C>T (p.His1146Tyr)
c.3469C>T (p.His1157Tyr)
 dbSNP gnomAD v2 gnomAD v4
3g.38575365G>CCA352138124SCN5Ac.3595C>G (p.His1199Asp)
c.3598C>G (p.His1200Asp)
c.3436C>G (p.His1146Asp)
c.3469C>G (p.His1157Asp)
3g.38575365G=CA1358572549SCN5Ac.3595C= (p.His1199=)
c.3598C= (p.His1200=)
c.3436C= (p.His1146=)
c.3469C= (p.His1157=)
3g.38575365G>TCA352138125SCN5Ac.3595C>A (p.His1199Asn)
c.3598C>A (p.His1200Asn)
c.3436C>A (p.His1146Asn)
c.3469C>A (p.His1157Asn)
3g.38575366dupCA542615675SCN5Ac.3595dup (p.His1199ProfsTer?)
c.3598dup (p.His1200ProfsTer?)
c.3436dup (p.His1146ProfsTer?)
c.3469dup (p.His1157ProfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38575366G>ACA433134034SCN5Ac.3594C>T (p.Tyr1198=)
c.3597C>T (p.Tyr1199=)
c.3435C>T (p.Tyr1145=)
c.3468C>T (p.Tyr1156=)
3g.38575366G>CCA352138127SCN5Ac.3594C>G (p.Tyr1198Ter)
c.3597C>G (p.Tyr1199Ter)
c.3435C>G (p.Tyr1145Ter)
c.3468C>G (p.Tyr1156Ter)
3g.38575366G>TCA352138126SCN5Ac.3594C>A (p.Tyr1198Ter)
c.3597C>A (p.Tyr1199Ter)
c.3435C>A (p.Tyr1145Ter)
c.3468C>A (p.Tyr1156Ter)
3g.38575367T>ACA352138128SCN5Ac.3593A>T (p.Tyr1198Phe)
c.3596A>T (p.Tyr1199Phe)
c.3434A>T (p.Tyr1145Phe)
c.3467A>T (p.Tyr1156Phe)
3g.38575367T>CCA352138129SCN5Ac.3593A>G (p.Tyr1198Cys)
c.3596A>G (p.Tyr1199Cys)
c.3434A>G (p.Tyr1145Cys)
c.3467A>G (p.Tyr1156Cys)
 gnomAD v4
3g.38575367T>GCA017304SCN5Ac.3593A>C (p.Tyr1198Ser)
c.3596A>C (p.Tyr1199Ser)
c.3434A>C (p.Tyr1145Ser)
c.3467A>C (p.Tyr1156Ser)
 ClinVar dbSNP gnomAD v4
3g.38575367T=CA1358572550SCN5Ac.3593A= (p.Tyr1198=)
c.3596A= (p.Tyr1199=)
c.3434A= (p.Tyr1145=)
c.3467A= (p.Tyr1156=)
3g.38575368A>CCA352138130SCN5Ac.3592T>G (p.Tyr1198Asp)
c.3595T>G (p.Tyr1199Asp)
c.3433T>G (p.Tyr1145Asp)
c.3466T>G (p.Tyr1156Asp)
3g.38575368A>GCA352138131SCN5Ac.3592T>C (p.Tyr1198His)
c.3595T>C (p.Tyr1199His)
c.3433T>C (p.Tyr1145His)
c.3466T>C (p.Tyr1156His)
3g.38575368A>TCA352138132SCN5Ac.3592T>A (p.Tyr1198Asn)
c.3595T>A (p.Tyr1199Asn)
c.3433T>A (p.Tyr1145Asn)
c.3466T>A (p.Tyr1156Asn)
 COSMIC COSMIC COSMIC
3g.38575369G>ACA433134035SCN5Ac.3591C>T (p.Cys1197=)
c.3594C>T (p.Cys1198=)
c.3432C>T (p.Cys1144=)
c.3465C>T (p.Cys1155=)
 dbSNP gnomAD v2 gnomAD v4
3g.38575369G>CCA352138133SCN5Ac.3591C>G (p.Cys1197Trp)
c.3594C>G (p.Cys1198Trp)
c.3432C>G (p.Cys1144Trp)
c.3465C>G (p.Cys1155Trp)
3g.38575369G=CA1358572551SCN5Ac.3591C= (p.Cys1197=)
c.3594C= (p.Cys1198=)
c.3432C= (p.Cys1144=)
c.3465C= (p.Cys1155=)
3g.38575369G>TCA352138134SCN5Ac.3591C>A (p.Cys1197Ter)
c.3594C>A (p.Cys1198Ter)
c.3432C>A (p.Cys1144Ter)
c.3465C>A (p.Cys1155Ter)
 dbSNP
3g.38575370C>ACA352138135SCN5Ac.3590G>T (p.Cys1197Phe)
c.3593G>T (p.Cys1198Phe)
c.3431G>T (p.Cys1144Phe)
c.3464G>T (p.Cys1155Phe)
3g.38575370C>GCA352138136SCN5Ac.3590G>C (p.Cys1197Ser)
c.3593G>C (p.Cys1198Ser)
c.3431G>C (p.Cys1144Ser)
c.3464G>C (p.Cys1155Ser)
 gnomAD v4
3g.38575370C>TCA352138137SCN5Ac.3590G>A (p.Cys1197Tyr)
c.3593G>A (p.Cys1198Tyr)
c.3431G>A (p.Cys1144Tyr)
c.3464G>A (p.Cys1155Tyr)
3g.38575371A>CCA352138138SCN5Ac.3589T>G (p.Cys1197Gly)
c.3592T>G (p.Cys1198Gly)
c.3430T>G (p.Cys1144Gly)
c.3463T>G (p.Cys1155Gly)
3g.38575371A>GCA352138139SCN5Ac.3589T>C (p.Cys1197Arg)
c.3592T>C (p.Cys1198Arg)
c.3430T>C (p.Cys1144Arg)
c.3463T>C (p.Cys1155Arg)
 ClinVar
3g.38575371A>TCA352138140SCN5Ac.3589T>A (p.Cys1197Ser)
c.3592T>A (p.Cys1198Ser)
c.3430T>A (p.Cys1144Ser)
c.3463T>A (p.Cys1155Ser)
3g.38575372G>ACA433134036SCN5Ac.3588C>T (p.Thr1196=)
c.3591C>T (p.Thr1197=)
c.3429C>T (p.Thr1143=)
c.3462C>T (p.Thr1154=)
3g.38575372G>CCA433134037SCN5Ac.3588C>G (p.Thr1196=)
c.3591C>G (p.Thr1197=)
c.3429C>G (p.Thr1143=)
c.3462C>G (p.Thr1154=)
 ClinVar dbSNP
3g.38575372G=CA1358572552SCN5Ac.3588C= (p.Thr1196=)
c.3591C= (p.Thr1197=)
c.3429C= (p.Thr1143=)
c.3462C= (p.Thr1154=)
3g.38575372G>TCA433134038SCN5Ac.3588C>A (p.Thr1196=)
c.3591C>A (p.Thr1197=)
c.3429C>A (p.Thr1143=)
c.3462C>A (p.Thr1154=)
 dbSNP gnomAD v2
3g.38575373G>ACA352138143SCN5Ac.3587C>T (p.Thr1196Ile)
c.3590C>T (p.Thr1197Ile)
c.3428C>T (p.Thr1143Ile)
c.3461C>T (p.Thr1154Ile)
 gnomAD v4
3g.38575373G>CCA352138142SCN5Ac.3587C>G (p.Thr1196Ser)
c.3590C>G (p.Thr1197Ser)
c.3428C>G (p.Thr1143Ser)
c.3461C>G (p.Thr1154Ser)
 ClinVar dbSNP gnomAD v4
3g.38575373G=CA1358572553SCN5Ac.3587C= (p.Thr1196=)
c.3590C= (p.Thr1197=)
c.3428C= (p.Thr1143=)
c.3461C= (p.Thr1154=)
3g.38575373G>TCA352138141SCN5Ac.3587C>A (p.Thr1196Asn)
c.3590C>A (p.Thr1197Asn)
c.3428C>A (p.Thr1143Asn)
c.3461C>A (p.Thr1154Asn)
 gnomAD v4
3g.38575374T>ACA352138144SCN5Ac.3586A>T (p.Thr1196Ser)
c.3589A>T (p.Thr1197Ser)
c.3427A>T (p.Thr1143Ser)
c.3460A>T (p.Thr1154Ser)
3g.38575374T>CCA352138145SCN5Ac.3586A>G (p.Thr1196Ala)
c.3589A>G (p.Thr1197Ala)
c.3427A>G (p.Thr1143Ala)
c.3460A>G (p.Thr1154Ala)
3g.38575374T>GCA352138146SCN5Ac.3586A>C (p.Thr1196Pro)
c.3589A>C (p.Thr1197Pro)
c.3427A>C (p.Thr1143Pro)
c.3460A>C (p.Thr1154Pro)
 dbSNP
3g.38575374T=CA1358572554SCN5Ac.3586A= (p.Thr1196=)
c.3589A= (p.Thr1197=)
c.3427A= (p.Thr1143=)
c.3460A= (p.Thr1154=)
3g.38575375C>ACA352138147SCN5Ac.3585G>T (p.Lys1195Asn)
c.3588G>T (p.Lys1196Asn)
c.3426G>T (p.Lys1142Asn)
c.3459G>T (p.Lys1153Asn)
 gnomAD v4
3g.38575375C>GCA352138148SCN5Ac.3585G>C (p.Lys1195Asn)
c.3588G>C (p.Lys1196Asn)
c.3426G>C (p.Lys1142Asn)
c.3459G>C (p.Lys1153Asn)
 gnomAD v4
3g.38575375C>TCA433134039SCN5Ac.3585G>A (p.Lys1195=)
c.3588G>A (p.Lys1196=)
c.3426G>A (p.Lys1142=)
c.3459G>A (p.Lys1153=)
 gnomAD v4
3g.38575376T>ACA352138149SCN5Ac.3584A>T (p.Lys1195Met)
c.3587A>T (p.Lys1196Met)
c.3425A>T (p.Lys1142Met)
c.3458A>T (p.Lys1153Met)
3g.38575376T>CCA352138150SCN5Ac.3584A>G (p.Lys1195Arg)
c.3587A>G (p.Lys1196Arg)
c.3425A>G (p.Lys1142Arg)
c.3458A>G (p.Lys1153Arg)
3g.38575376T>GCA352138151SCN5Ac.3584A>C (p.Lys1195Thr)
c.3587A>C (p.Lys1196Thr)
c.3425A>C (p.Lys1142Thr)
c.3458A>C (p.Lys1153Thr)
3g.38575377delCA2580069786SCN5Ac.3584del (p.Lys1195ArgfsTer19)
c.3587del (p.Lys1196ArgfsTer19)
c.3425del (p.Lys1142ArgfsTer19)
c.3458del (p.Lys1153ArgfsTer19)
 ClinVar
3g.38575377T>ACA352138152SCN5Ac.3583A>T (p.Lys1195Ter)
c.3586A>T (p.Lys1196Ter)
c.3424A>T (p.Lys1142Ter)
c.3457A>T (p.Lys1153Ter)
 dbSNP
3g.38575377T>CCA352138153SCN5Ac.3583A>G (p.Lys1195Glu)
c.3586A>G (p.Lys1196Glu)
c.3424A>G (p.Lys1142Glu)
c.3457A>G (p.Lys1153Glu)
 gnomAD v4
3g.38575377T>GCA352138154SCN5Ac.3583A>C (p.Lys1195Gln)
c.3586A>C (p.Lys1196Gln)
c.3424A>C (p.Lys1142Gln)
c.3457A>C (p.Lys1153Gln)
3g.38575377T=CA1358572555SCN5Ac.3583A= (p.Lys1195=)
c.3586A= (p.Lys1196=)
c.3424A= (p.Lys1142=)
c.3457A= (p.Lys1153=)
3g.38575378G>ACA433134040SCN5Ac.3582C>T (p.Arg1194=)
c.3585C>T (p.Arg1195=)
c.3423C>T (p.Arg1141=)
c.3456C>T (p.Arg1152=)
3g.38575378G>CCA433134041SCN5Ac.3582C>G (p.Arg1194=)
c.3585C>G (p.Arg1195=)
c.3423C>G (p.Arg1141=)
c.3456C>G (p.Arg1152=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38575378G=CA1358572556SCN5Ac.3582C= (p.Arg1194=)
c.3585C= (p.Arg1195=)
c.3423C= (p.Arg1141=)
c.3456C= (p.Arg1152=)
3g.38575378G>TCA433134042SCN5Ac.3582C>A (p.Arg1194=)
c.3585C>A (p.Arg1195=)
c.3423C>A (p.Arg1141=)
c.3456C>A (p.Arg1152=)
 gnomAD v4
3g.38575379C>ACA352138156SCN5Ac.3581G>T (p.Arg1194Leu)
c.3584G>T (p.Arg1195Leu)
c.3422G>T (p.Arg1141Leu)
c.3455G>T (p.Arg1152Leu)
3g.38575379C=CA1358572557SCN5Ac.3581G= (p.Arg1194=)
c.3584G= (p.Arg1195=)
c.3422G= (p.Arg1141=)
c.3455G= (p.Arg1152=)
3g.38575379C>GCA352138155SCN5Ac.3581G>C (p.Arg1194Pro)
c.3584G>C (p.Arg1195Pro)
c.3422G>C (p.Arg1141Pro)
c.3455G>C (p.Arg1152Pro)
 dbSNP gnomAD v2
3g.38575379C>TCA017297SCN5Ac.3581G>A (p.Arg1194His)
c.3584G>A (p.Arg1195His)
c.3422G>A (p.Arg1141His)
c.3455G>A (p.Arg1152His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38575380G>ACA349214SCN5Ac.3580C>T (p.Arg1194Cys)
c.3583C>T (p.Arg1195Cys)
c.3421C>T (p.Arg1141Cys)
c.3454C>T (p.Arg1152Cys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
3g.38575380G>CCA352138157SCN5Ac.3580C>G (p.Arg1194Gly)
c.3583C>G (p.Arg1195Gly)
c.3421C>G (p.Arg1141Gly)
c.3454C>G (p.Arg1152Gly)
3g.38575380G=CA1358572558SCN5Ac.3580C= (p.Arg1194=)
c.3583C= (p.Arg1195=)
c.3421C= (p.Arg1141=)
c.3454C= (p.Arg1152=)
3g.38575380G>TCA352138158SCN5Ac.3580C>A (p.Arg1194Ser)
c.3583C>A (p.Arg1195Ser)
c.3421C>A (p.Arg1141Ser)
c.3454C>A (p.Arg1152Ser)
3g.38575381C>ACA352138159SCN5Ac.3579G>T (p.Leu1193Phe)
c.3582G>T (p.Leu1194Phe)
c.3420G>T (p.Leu1140Phe)
c.3453G>T (p.Leu1151Phe)
 gnomAD v4
3g.38575381C>GCA352138160SCN5Ac.3579G>C (p.Leu1193Phe)
c.3582G>C (p.Leu1194Phe)
c.3420G>C (p.Leu1140Phe)
c.3453G>C (p.Leu1151Phe)
3g.38575381C>TCA433134043SCN5Ac.3579G>A (p.Leu1193=)
c.3582G>A (p.Leu1194=)
c.3420G>A (p.Leu1140=)
c.3453G>A (p.Leu1151=)
 COSMIC COSMIC COSMIC
3g.38575382A=CA1358572559SCN5Ac.3578T= (p.Leu1193=)
c.3581T= (p.Leu1194=)
c.3419T= (p.Leu1140=)
c.3452T= (p.Leu1151=)
3g.38575382A>CCA352138161SCN5Ac.3578T>G (p.Leu1193Trp)
c.3581T>G (p.Leu1194Trp)
c.3419T>G (p.Leu1140Trp)
c.3452T>G (p.Leu1151Trp)
 ClinVar dbSNP
3g.38575382A>GCA352138162SCN5Ac.3578T>C (p.Leu1193Ser)
c.3581T>C (p.Leu1194Ser)
c.3419T>C (p.Leu1140Ser)
c.3452T>C (p.Leu1151Ser)
3g.38575382A>TCA352138163SCN5Ac.3578T>A (p.Leu1193Ter)
c.3581T>A (p.Leu1194Ter)
c.3419T>A (p.Leu1140Ter)
c.3452T>A (p.Leu1151Ter)
 dbSNP
3g.38575383A=CA1358572560SCN5Ac.3577T= (p.Leu1193=)
c.3580T= (p.Leu1194=)
c.3418T= (p.Leu1140=)
c.3451T= (p.Leu1151=)
3g.38575383A>CCA352138164SCN5Ac.3577T>G (p.Leu1193Val)
c.3580T>G (p.Leu1194Val)
c.3418T>G (p.Leu1140Val)
c.3451T>G (p.Leu1151Val)
 dbSNP
3g.38575383A>GCA433134044SCN5Ac.3577T>C (p.Leu1193=)
c.3580T>C (p.Leu1194=)
c.3418T>C (p.Leu1140=)
c.3451T>C (p.Leu1151=)
3g.38575383A>TCA352138165SCN5Ac.3577T>A (p.Leu1193Met)
c.3580T>A (p.Leu1194Met)
c.3418T>A (p.Leu1140Met)
c.3451T>A (p.Leu1151Met)
 ClinVar dbSNP
3g.38575384C>ACA433134045SCN5Ac.3576G>T (p.Arg1192=)
c.3579G>T (p.Arg1193=)
c.3417G>T (p.Arg1139=)
c.3450G>T (p.Arg1150=)
3g.38575384C=CA1358572561SCN5Ac.3576G= (p.Arg1192=)
c.3579G= (p.Arg1193=)
c.3417G= (p.Arg1139=)
c.3450G= (p.Arg1150=)
3g.38575384C>GCA433134046SCN5Ac.3576G>C (p.Arg1192=)
c.3579G>C (p.Arg1193=)
c.3417G>C (p.Arg1139=)
c.3450G>C (p.Arg1150=)
3g.38575384C>TCA062064SCN5Ac.3576G>A (p.Arg1192=)
c.3579G>A (p.Arg1193=)
c.3417G>A (p.Arg1139=)
c.3450G>A (p.Arg1150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38575385C>ACA352138166SCN5Ac.3575G>T (p.Arg1192Leu)
c.3578G>T (p.Arg1193Leu)
c.3416G>T (p.Arg1139Leu)
c.3449G>T (p.Arg1150Leu)
3g.38575385C=CA1358572562SCN5Ac.3575G= (p.Arg1192=)
c.3578G= (p.Arg1193=)
c.3416G= (p.Arg1139=)
c.3449G= (p.Arg1150=)
3g.38575385C>GCA352138167SCN5Ac.3575G>C (p.Arg1192Pro)
c.3578G>C (p.Arg1193Pro)
c.3416G>C (p.Arg1139Pro)
c.3449G>C (p.Arg1150Pro)
3g.38575385C>TCA017287SCN5Ac.3575G>A (p.Arg1192Gln)
c.3578G>A (p.Arg1193Gln)
c.3416G>A (p.Arg1139Gln)
c.3449G>A (p.Arg1150Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38575386G>ACA017280SCN5Ac.3574C>T (p.Arg1192Trp)
c.3577C>T (p.Arg1193Trp)
c.3415C>T (p.Arg1139Trp)
c.3448C>T (p.Arg1150Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38575386G>CCA352138168SCN5Ac.3574C>G (p.Arg1192Gly)
c.3577C>G (p.Arg1193Gly)
c.3415C>G (p.Arg1139Gly)
c.3448C>G (p.Arg1150Gly)
3g.38575386G=CA1358572563SCN5Ac.3574C= (p.Arg1192=)
c.3577C= (p.Arg1193=)
c.3415C= (p.Arg1139=)
c.3448C= (p.Arg1150=)
3g.38575386G>TCA433134047SCN5Ac.3574C>A (p.Arg1192=)
c.3577C>A (p.Arg1193=)
c.3415C>A (p.Arg1139=)
c.3448C>A (p.Arg1150=)
 gnomAD v4
3g.38575387C>ACA352138169SCN5Ac.3573G>T (p.Trp1191Cys)
c.3576G>T (p.Trp1192Cys)
c.3414G>T (p.Trp1138Cys)
c.3447G>T (p.Trp1149Cys)
3g.38575387C=CA1358572564SCN5Ac.3573G= (p.Trp1191=)
c.3576G= (p.Trp1192=)
c.3414G= (p.Trp1138=)
c.3447G= (p.Trp1149=)
3g.38575387C>GCA352138170SCN5Ac.3573G>C (p.Trp1191Cys)
c.3576G>C (p.Trp1192Cys)
c.3414G>C (p.Trp1138Cys)
c.3447G>C (p.Trp1149Cys)
3g.38575387C>TCA352138171SCN5Ac.3573G>A (p.Trp1191Ter)
c.3576G>A (p.Trp1192Ter)
c.3414G>A (p.Trp1138Ter)
c.3447G>A (p.Trp1149Ter)
 ClinVar dbSNP COSMIC COSMIC COSMIC
3g.38575388C>ACA352138172SCN5Ac.3572G>T (p.Trp1191Leu)
c.3575G>T (p.Trp1192Leu)
c.3413G>T (p.Trp1138Leu)
c.3446G>T (p.Trp1149Leu)
 gnomAD v4
3g.38575388C=CA1358572565SCN5Ac.3572G= (p.Trp1191=)
c.3575G= (p.Trp1192=)
c.3413G= (p.Trp1138=)
c.3446G= (p.Trp1149=)
3g.38575388C>GCA352138173SCN5Ac.3572G>C (p.Trp1191Ser)
c.3575G>C (p.Trp1192Ser)
c.3413G>C (p.Trp1138Ser)
c.3446G>C (p.Trp1149Ser)
3g.38575388C>TCA017274SCN5Ac.3572G>A (p.Trp1191Ter)
c.3575G>A (p.Trp1192Ter)
c.3413G>A (p.Trp1138Ter)
c.3446G>A (p.Trp1149Ter)
 ClinVar dbSNP
3g.38575389A>CCA352138174SCN5Ac.3571T>G (p.Trp1191Gly)
c.3574T>G (p.Trp1192Gly)
c.3412T>G (p.Trp1138Gly)
c.3445T>G (p.Trp1149Gly)
3g.38575389A>GCA352138175SCN5Ac.3571T>C (p.Trp1191Arg)
c.3574T>C (p.Trp1192Arg)
c.3412T>C (p.Trp1138Arg)
c.3445T>C (p.Trp1149Arg)
3g.38575389A>TCA352138176SCN5Ac.3571T>A (p.Trp1191Arg)
c.3574T>A (p.Trp1192Arg)
c.3412T>A (p.Trp1138Arg)
c.3445T>A (p.Trp1149Arg)
3g.38575390C>ACA352138177SCN5Ac.3570G>T (p.Trp1190Cys)
c.3573G>T (p.Trp1191Cys)
c.3411G>T (p.Trp1137Cys)
c.3444G>T (p.Trp1148Cys)
 dbSNP gnomAD v2
3g.38575390C=CA1358572566SCN5Ac.3570G= (p.Trp1190=)
c.3573G= (p.Trp1191=)
c.3411G= (p.Trp1137=)
c.3444G= (p.Trp1148=)
3g.38575390C>GCA352138178SCN5Ac.3570G>C (p.Trp1190Cys)
c.3573G>C (p.Trp1191Cys)
c.3411G>C (p.Trp1137Cys)
c.3444G>C (p.Trp1148Cys)
3g.38575390C>TCA352138179SCN5Ac.3570G>A (p.Trp1190Ter)
c.3573G>A (p.Trp1191Ter)
c.3411G>A (p.Trp1137Ter)
c.3444G>A (p.Trp1148Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.38575391C>ACA352138181SCN5Ac.3569G>T (p.Trp1190Leu)
c.3572G>T (p.Trp1191Leu)
c.3410G>T (p.Trp1137Leu)
c.3443G>T (p.Trp1148Leu)
3g.38575391C>GCA352138182SCN5Ac.3569G>C (p.Trp1190Ser)
c.3572G>C (p.Trp1191Ser)
c.3410G>C (p.Trp1137Ser)
c.3443G>C (p.Trp1148Ser)
3g.38575391C>TCA352138180SCN5Ac.3569G>A (p.Trp1190Ter)
c.3572G>A (p.Trp1191Ter)
c.3410G>A (p.Trp1137Ter)
c.3443G>A (p.Trp1148Ter)
 gnomAD v4
3g.38575392A>CCA352138183SCN5Ac.3568T>G (p.Trp1190Gly)
c.3571T>G (p.Trp1191Gly)
c.3409T>G (p.Trp1137Gly)
c.3442T>G (p.Trp1148Gly)
3g.38575392A>GCA352138184SCN5Ac.3568T>C (p.Trp1190Arg)
c.3571T>C (p.Trp1191Arg)
c.3409T>C (p.Trp1137Arg)
c.3442T>C (p.Trp1148Arg)
3g.38575392A>TCA352138185SCN5Ac.3568T>A (p.Trp1190Arg)
c.3571T>A (p.Trp1191Arg)
c.3409T>A (p.Trp1137Arg)
c.3442T>A (p.Trp1148Arg)
3g.38575393G>ACA433134048SCN5Ac.3567C>T (p.Val1189=)
c.3570C>T (p.Val1190=)
c.3408C>T (p.Val1136=)
c.3441C>T (p.Val1147=)
3g.38575393G>CCA433134049SCN5Ac.3567C>G (p.Val1189=)
c.3570C>G (p.Val1190=)
c.3408C>G (p.Val1136=)
c.3441C>G (p.Val1147=)
3g.38575393G>TCA433134050SCN5Ac.3567C>A (p.Val1189=)
c.3570C>A (p.Val1190=)
c.3408C>A (p.Val1136=)
c.3441C>A (p.Val1147=)
3g.38575394A>CCA352138186SCN5Ac.3566T>G (p.Val1189Gly)
c.3569T>G (p.Val1190Gly)
c.3407T>G (p.Val1136Gly)
c.3440T>G (p.Val1147Gly)
 gnomAD v4
3g.38575394A>GCA352138187SCN5Ac.3566T>C (p.Val1189Ala)
c.3569T>C (p.Val1190Ala)
c.3407T>C (p.Val1136Ala)
c.3440T>C (p.Val1147Ala)
3g.38575394A>TCA352138188SCN5Ac.3566T>A (p.Val1189Asp)
c.3569T>A (p.Val1190Asp)
c.3407T>A (p.Val1136Asp)
c.3440T>A (p.Val1147Asp)
3g.38575395C>ACA352138191SCN5Ac.3565G>T (p.Val1189Phe)
c.3568G>T (p.Val1190Phe)
c.3406G>T (p.Val1136Phe)
c.3439G>T (p.Val1147Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38575395C=CA1358572567SCN5Ac.3565G= (p.Val1189=)
c.3568G= (p.Val1190=)
c.3406G= (p.Val1136=)
c.3439G= (p.Val1147=)
3g.38575395C>GCA352138189SCN5Ac.3565G>C (p.Val1189Leu)
c.3568G>C (p.Val1190Leu)
c.3406G>C (p.Val1136Leu)
c.3439G>C (p.Val1147Leu)
 dbSNP
3g.38575395C>TCA352138190SCN5Ac.3565G>A (p.Val1189Ile)
c.3568G>A (p.Val1190Ile)
c.3406G>A (p.Val1136Ile)
c.3439G>A (p.Val1147Ile)
3g.38575396C>ACA352138192SCN5Ac.3564G>T (p.Lys1188Asn)
c.3567G>T (p.Lys1189Asn)
c.3405G>T (p.Lys1135Asn)
c.3438G>T (p.Lys1146Asn)
3g.38575396C=CA1358572568SCN5Ac.3564G= (p.Lys1188=)
c.3567G= (p.Lys1189=)
c.3405G= (p.Lys1135=)
c.3438G= (p.Lys1146=)
3g.38575396C>GCA352138193SCN5Ac.3564G>C (p.Lys1188Asn)
c.3567G>C (p.Lys1189Asn)
c.3405G>C (p.Lys1135Asn)
c.3438G>C (p.Lys1146Asn)
 ClinVar dbSNP
3g.38575396C>TCA433134052SCN5Ac.3564G>A (p.Lys1188=)
c.3567G>A (p.Lys1189=)
c.3405G>A (p.Lys1135=)
c.3438G>A (p.Lys1146=)
 ClinVar dbSNP gnomAD v4
3g.38575397T>ACA352138194SCN5Ac.3563A>T (p.Lys1188Met)
c.3566A>T (p.Lys1189Met)
c.3404A>T (p.Lys1135Met)
c.3437A>T (p.Lys1146Met)
3g.38575397T>CCA352138195SCN5Ac.3563A>G (p.Lys1188Arg)
c.3566A>G (p.Lys1189Arg)
c.3404A>G (p.Lys1135Arg)
c.3437A>G (p.Lys1146Arg)
3g.38575397T>GCA352138196SCN5Ac.3563A>C (p.Lys1188Thr)
c.3566A>C (p.Lys1189Thr)
c.3404A>C (p.Lys1135Thr)
c.3437A>C (p.Lys1146Thr)
 dbSNP gnomAD v2 gnomAD v4
3g.38575397T=CA1358572569SCN5Ac.3563A= (p.Lys1188=)
c.3566A= (p.Lys1189=)
c.3404A= (p.Lys1135=)
c.3437A= (p.Lys1146=)
3g.38575398T>ACA352138199SCN5Ac.3562A>T (p.Lys1188Ter)
c.3565A>T (p.Lys1189Ter)
c.3403A>T (p.Lys1135Ter)
c.3436A>T (p.Lys1146Ter)
 dbSNP
3g.38575398T>CCA352138197SCN5Ac.3562A>G (p.Lys1188Glu)
c.3565A>G (p.Lys1189Glu)
c.3403A>G (p.Lys1135Glu)
c.3436A>G (p.Lys1146Glu)
3g.38575398T>GCA352138198SCN5Ac.3562A>C (p.Lys1188Gln)
c.3565A>C (p.Lys1189Gln)
c.3403A>C (p.Lys1135Gln)
c.3436A>C (p.Lys1146Gln)
3g.38575398T=CA1358572570SCN5Ac.3562A= (p.Lys1188=)
c.3565A= (p.Lys1189=)
c.3403A= (p.Lys1135=)
c.3436A= (p.Lys1146=)
3g.38575399C>ACA062045SCN5Ac.3561G>T (p.Gly1187=)
c.3564G>T (p.Gly1188=)
c.3402G>T (p.Gly1134=)
c.3435G>T (p.Gly1145=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38575399C=CA1358572571SCN5Ac.3561G= (p.Gly1187=)
c.3564G= (p.Gly1188=)
c.3402G= (p.Gly1134=)
c.3435G= (p.Gly1145=)
3g.38575399C>GCA433134054SCN5Ac.3561G>C (p.Gly1187=)
c.3564G>C (p.Gly1188=)
c.3402G>C (p.Gly1134=)
c.3435G>C (p.Gly1145=)
3g.38575399C>TCA433134053SCN5Ac.3561G>A (p.Gly1187=)
c.3564G>A (p.Gly1188=)
c.3402G>A (p.Gly1134=)
c.3435G>A (p.Gly1145=)
3g.38575400C>ACA352138200SCN5Ac.3560G>T (p.Gly1187Val)
c.3563G>T (p.Gly1188Val)
c.3401G>T (p.Gly1134Val)
c.3434G>T (p.Gly1145Val)
3g.38575400C>GCA352138201SCN5Ac.3560G>C (p.Gly1187Ala)
c.3563G>C (p.Gly1188Ala)
c.3401G>C (p.Gly1134Ala)
c.3434G>C (p.Gly1145Ala)
3g.38575400C>TCA352138202SCN5Ac.3560G>A (p.Gly1187Glu)
c.3563G>A (p.Gly1188Glu)
c.3401G>A (p.Gly1134Glu)
c.3434G>A (p.Gly1145Glu)
 gnomAD v4
3g.38575401C>ACA352138203SCN5Ac.3559G>T (p.Gly1187Trp)
c.3562G>T (p.Gly1188Trp)
c.3400G>T (p.Gly1134Trp)
c.3433G>T (p.Gly1145Trp)
3g.38575401C>GCA352138204SCN5Ac.3559G>C (p.Gly1187Arg)
c.3562G>C (p.Gly1188Arg)
c.3400G>C (p.Gly1134Arg)
c.3433G>C (p.Gly1145Arg)
3g.38575401C>TCA352138205SCN5Ac.3559G>A (p.Gly1187Arg)
c.3562G>A (p.Gly1188Arg)
c.3400G>A (p.Gly1134Arg)
c.3433G>A (p.Gly1145Arg)
3g.38575402T>ACA433134055SCN5Ac.3558A>T (p.Pro1186=)
c.3561A>T (p.Pro1187=)
c.3399A>T (p.Pro1133=)
c.3432A>T (p.Pro1144=)
3g.38575402T>CCA433134057SCN5Ac.3558A>G (p.Pro1186=)
c.3561A>G (p.Pro1187=)
c.3399A>G (p.Pro1133=)
c.3432A>G (p.Pro1144=)
3g.38575402T>GCA433134056SCN5Ac.3558A>C (p.Pro1186=)
c.3561A>C (p.Pro1187=)
c.3399A>C (p.Pro1133=)
c.3432A>C (p.Pro1144=)
3g.38575403G>ACA017267SCN5Ac.3557C>T (p.Pro1186Leu)
c.3560C>T (p.Pro1187Leu)
c.3398C>T (p.Pro1133Leu)
c.3431C>T (p.Pro1144Leu)
 ClinVar dbSNP
3g.38575403G>CCA352138206SCN5Ac.3557C>G (p.Pro1186Arg)
c.3560C>G (p.Pro1187Arg)
c.3398C>G (p.Pro1133Arg)
c.3431C>G (p.Pro1144Arg)
3g.38575403G=CA1358572572SCN5Ac.3557C= (p.Pro1186=)
c.3560C= (p.Pro1187=)
c.3398C= (p.Pro1133=)
c.3431C= (p.Pro1144=)
3g.38575403G>TCA062038SCN5Ac.3557C>A (p.Pro1186Gln)
c.3560C>A (p.Pro1187Gln)
c.3398C>A (p.Pro1133Gln)
c.3431C>A (p.Pro1144Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38575406delCA2595894910SCN5Ac.3557del (p.Pro1186GlnfsTer28)
c.3560del (p.Pro1187GlnfsTer28)
c.3398del (p.Pro1133GlnfsTer28)
c.3431del (p.Pro1144GlnfsTer28)
 gnomAD v3 gnomAD v4
3g.38575404G>ACA352138207SCN5Ac.3556C>T (p.Pro1186Ser)
c.3559C>T (p.Pro1187Ser)
c.3397C>T (p.Pro1133Ser)
c.3430C>T (p.Pro1144Ser)
3g.38575404G>CCA352138208SCN5Ac.3556C>G (p.Pro1186Ala)
c.3559C>G (p.Pro1187Ala)
c.3397C>G (p.Pro1133Ala)
c.3430C>G (p.Pro1144Ala)
3g.38575404G>TCA352138209SCN5Ac.3556C>A (p.Pro1186Thr)
c.3559C>A (p.Pro1187Thr)
c.3397C>A (p.Pro1133Thr)
c.3430C>A (p.Pro1144Thr)
3g.38575405G>ACA433134058SCN5Ac.3555C>T (p.Ala1185=)
c.3558C>T (p.Ala1186=)
c.3396C>T (p.Ala1132=)
c.3429C>T (p.Ala1143=)
3g.38575405G>CCA433134059SCN5Ac.3555C>G (p.Ala1185=)
c.3558C>G (p.Ala1186=)
c.3396C>G (p.Ala1132=)
c.3429C>G (p.Ala1143=)
3g.38575405G>TCA433134060SCN5Ac.3555C>A (p.Ala1185=)
c.3558C>A (p.Ala1186=)
c.3396C>A (p.Ala1132=)
c.3429C>A (p.Ala1143=)
 gnomAD v3 gnomAD v4
3g.38575406G>ACA352138212SCN5Ac.3554C>T (p.Ala1185Val)
c.3557C>T (p.Ala1186Val)
c.3395C>T (p.Ala1132Val)
c.3428C>T (p.Ala1143Val)
3g.38575406G>CCA352138210SCN5Ac.3554C>G (p.Ala1185Gly)
c.3557C>G (p.Ala1186Gly)
c.3395C>G (p.Ala1132Gly)
c.3428C>G (p.Ala1143Gly)
3g.38575406G=CA1358572573SCN5Ac.3554C= (p.Ala1185=)
c.3557C= (p.Ala1186=)
c.3395C= (p.Ala1132=)
c.3428C= (p.Ala1143=)
3g.38575406G>TCA352138211SCN5Ac.3554C>A (p.Ala1185Asp)
c.3557C>A (p.Ala1186Asp)
c.3395C>A (p.Ala1132Asp)
c.3428C>A (p.Ala1143Asp)
 ClinVar dbSNP
3g.38575407C>ACA352138213SCN5Ac.3553G>T (p.Ala1185Ser)
c.3556G>T (p.Ala1186Ser)
c.3394G>T (p.Ala1132Ser)
c.3427G>T (p.Ala1143Ser)
 dbSNP gnomAD v4
3g.38575407C=CA1358572574SCN5Ac.3553G= (p.Ala1185=)
c.3556G= (p.Ala1186=)
c.3394G= (p.Ala1132=)
c.3427G= (p.Ala1143=)
3g.38575407C>GCA352138214SCN5Ac.3553G>C (p.Ala1185Pro)
c.3556G>C (p.Ala1186Pro)
c.3394G>C (p.Ala1132Pro)
c.3427G>C (p.Ala1143Pro)
3g.38575407C>TCA017261SCN5Ac.3553G>A (p.Ala1185Thr)
c.3556G>A (p.Ala1186Thr)
c.3394G>A (p.Ala1132Thr)
c.3427G>A (p.Ala1143Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38575408C>ACA352138215SCN5Ac.3552G>T (p.Gln1184His)
c.3555G>T (p.Gln1185His)
c.3393G>T (p.Gln1131His)
c.3426G>T (p.Gln1142His)
 gnomAD v4
3g.38575408C>GCA352138216SCN5Ac.3552G>C (p.Gln1184His)
c.3555G>C (p.Gln1185His)
c.3393G>C (p.Gln1131His)
c.3426G>C (p.Gln1142His)
3g.38575408C>TCA433134061SCN5Ac.3552G>A (p.Gln1184=)
c.3555G>A (p.Gln1185=)
c.3393G>A (p.Gln1131=)
c.3426G>A (p.Gln1142=)
 gnomAD v4
3g.38575409T>ACA352138218SCN5Ac.3551A>T (p.Gln1184Leu)
c.3554A>T (p.Gln1185Leu)
c.3392A>T (p.Gln1131Leu)
c.3425A>T (p.Gln1142Leu)
 gnomAD v4
3g.38575409T>CCA72923237SCN5Ac.3551A>G (p.Gln1184Arg)
c.3554A>G (p.Gln1185Arg)
c.3392A>G (p.Gln1131Arg)
c.3425A>G (p.Gln1142Arg)
 ClinVar dbSNP
3g.38575409T>GCA352138217SCN5Ac.3551A>C (p.Gln1184Pro)
c.3554A>C (p.Gln1185Pro)
c.3392A>C (p.Gln1131Pro)
c.3425A>C (p.Gln1142Pro)
 gnomAD v4
3g.38575409T=CA1358572575SCN5Ac.3551A= (p.Gln1184=)
c.3554A= (p.Gln1185=)
c.3392A= (p.Gln1131=)
c.3425A= (p.Gln1142=)
3g.38575413_38575414delCA2586972094SCN5Ac.3550_3551del (p.Gln1184GlyfsTer?)
c.3553_3554del (p.Gln1185GlyfsTer?)
c.3391_3392del (p.Gln1131GlyfsTer?)
c.3424_3425del (p.Gln1142GlyfsTer?)
3g.38575410G>ACA017254SCN5Ac.3550C>T (p.Gln1184Ter)
c.3553C>T (p.Gln1185Ter)
c.3391C>T (p.Gln1131Ter)
c.3424C>T (p.Gln1142Ter)
 ClinVar dbSNP gnomAD v4
3g.38575410G>CCA352138219SCN5Ac.3550C>G (p.Gln1184Glu)
c.3553C>G (p.Gln1185Glu)
c.3391C>G (p.Gln1131Glu)
c.3424C>G (p.Gln1142Glu)
3g.38575410G=CA1358572576SCN5Ac.3550C= (p.Gln1184=)
c.3553C= (p.Gln1185=)
c.3391C= (p.Gln1131=)
c.3424C= (p.Gln1142=)
3g.38575410G>TCA352138220SCN5Ac.3550C>A (p.Gln1184Lys)
c.3553C>A (p.Gln1185Lys)
c.3391C>A (p.Gln1131Lys)
c.3424C>A (p.Gln1142Lys)
 gnomAD v4 COSMIC COSMIC COSMIC
3g.38575411T>ACA433134062SCN5Ac.3549A>T (p.Thr1183=)
c.3552A>T (p.Thr1184=)
c.3390A>T (p.Thr1130=)
c.3423A>T (p.Thr1141=)
3g.38575411T>CCA433134063SCN5Ac.3549A>G (p.Thr1183=)
c.3552A>G (p.Thr1184=)
c.3390A>G (p.Thr1130=)
c.3423A>G (p.Thr1141=)
3g.38575411T>GCA433134064SCN5Ac.3549A>C (p.Thr1183=)
c.3552A>C (p.Thr1184=)
c.3390A>C (p.Thr1130=)
c.3423A>C (p.Thr1141=)
3g.38575412G>ACA352138221SCN5Ac.3548C>T (p.Thr1183Ile)
c.3551C>T (p.Thr1184Ile)
c.3389C>T (p.Thr1130Ile)
c.3422C>T (p.Thr1141Ile)
 dbSNP gnomAD v2 gnomAD v4
3g.38575412G>CCA352138222SCN5Ac.3548C>G (p.Thr1183Arg)
c.3551C>G (p.Thr1184Arg)
c.3389C>G (p.Thr1130Arg)
c.3422C>G (p.Thr1141Arg)
3g.38575412G=CA1358572577SCN5Ac.3548C= (p.Thr1183=)
c.3551C= (p.Thr1184=)
c.3389C= (p.Thr1130=)
c.3422C= (p.Thr1141=)
3g.38575412G>TCA352138223SCN5Ac.3548C>A (p.Thr1183Lys)
c.3551C>A (p.Thr1184Lys)
c.3389C>A (p.Thr1130Lys)
c.3422C>A (p.Thr1141Lys)
3g.38575413T>ACA352138226SCN5Ac.3547A>T (p.Thr1183Ser)
c.3550A>T (p.Thr1184Ser)
c.3388A>T (p.Thr1130Ser)
c.3421A>T (p.Thr1141Ser)
3g.38575413T>CCA352138224SCN5Ac.3547A>G (p.Thr1183Ala)
c.3550A>G (p.Thr1184Ala)
c.3388A>G (p.Thr1130Ala)
c.3421A>G (p.Thr1141Ala)
3g.38575413T>GCA352138225SCN5Ac.3547A>C (p.Thr1183Pro)
c.3550A>C (p.Thr1184Pro)
c.3388A>C (p.Thr1130Pro)
c.3421A>C (p.Thr1141Pro)
3g.38575414G>ACA433134065SCN5Ac.3546C>T (p.Thr1182=)
c.3549C>T (p.Thr1183=)
c.3387C>T (p.Thr1129=)
c.3420C>T (p.Thr1140=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38575414G>CCA433134066SCN5Ac.3546C>G (p.Thr1182=)
c.3549C>G (p.Thr1183=)
c.3387C>G (p.Thr1129=)
c.3420C>G (p.Thr1140=)
3g.38575414G=CA1358572578SCN5Ac.3546C= (p.Thr1182=)
c.3549C= (p.Thr1183=)
c.3387C= (p.Thr1129=)
c.3420C= (p.Thr1140=)
3g.38575414G>TCA433134067SCN5Ac.3546C>A (p.Thr1182=)
c.3549C>A (p.Thr1183=)
c.3387C>A (p.Thr1129=)
c.3420C>A (p.Thr1140=)
 ClinVar
3g.38575415G>ACA352138227SCN5Ac.3545C>T (p.Thr1182Ile)
c.3548C>T (p.Thr1183Ile)
c.3386C>T (p.Thr1129Ile)
c.3419C>T (p.Thr1140Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38575415G>CCA352138228SCN5Ac.3545C>G (p.Thr1182Ser)
c.3548C>G (p.Thr1183Ser)
c.3386C>G (p.Thr1129Ser)
c.3419C>G (p.Thr1140Ser)
 dbSNP
3g.38575415G=CA1358572579SCN5Ac.3545C= (p.Thr1182=)
c.3548C= (p.Thr1183=)
c.3386C= (p.Thr1129=)
c.3419C= (p.Thr1140=)
3g.38575415G>TCA352138229SCN5Ac.3545C>A (p.Thr1182Asn)
c.3548C>A (p.Thr1183Asn)
c.3386C>A (p.Thr1129Asn)
c.3419C>A (p.Thr1140Asn)
3g.38575416T>ACA352138230SCN5Ac.3544A>T (p.Thr1182Ser)
c.3547A>T (p.Thr1183Ser)
c.3385A>T (p.Thr1129Ser)
c.3418A>T (p.Thr1140Ser)
3g.38575416T>CCA352138231SCN5Ac.3544A>G (p.Thr1182Ala)
c.3547A>G (p.Thr1183Ala)
c.3385A>G (p.Thr1129Ala)
c.3418A>G (p.Thr1140Ala)
3g.38575416T>GCA352138232SCN5Ac.3544A>C (p.Thr1182Pro)
c.3547A>C (p.Thr1183Pro)
c.3385A>C (p.Thr1129Pro)
c.3418A>C (p.Thr1140Pro)
3g.38575417G>ACA062013SCN5Ac.3543C>T (p.Asp1181=)
c.3546C>T (p.Asp1182=)
c.3384C>T (p.Asp1128=)
c.3417C>T (p.Asp1139=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38575417G>CCA352138233SCN5Ac.3543C>G (p.Asp1181Glu)
c.3546C>G (p.Asp1182Glu)
c.3384C>G (p.Asp1128Glu)
c.3417C>G (p.Asp1139Glu)
3g.38575417G=CA1358572580SCN5Ac.3543C= (p.Asp1181=)
c.3546C= (p.Asp1182=)
c.3384C= (p.Asp1128=)
c.3417C= (p.Asp1139=)
3g.38575417G>TCA352138234SCN5Ac.3543C>A (p.Asp1181Glu)
c.3546C>A (p.Asp1182Glu)
c.3384C>A (p.Asp1128Glu)
c.3417C>A (p.Asp1139Glu)
 gnomAD v4
3g.38575418T>ACA352138235SCN5Ac.3542A>T (p.Asp1181Val)
c.3545A>T (p.Asp1182Val)
c.3383A>T (p.Asp1128Val)
c.3416A>T (p.Asp1139Val)
 gnomAD v4
3g.38575418T>CCA352138236SCN5Ac.3542A>G (p.Asp1181Gly)
c.3545A>G (p.Asp1182Gly)
c.3383A>G (p.Asp1128Gly)
c.3416A>G (p.Asp1139Gly)
 gnomAD v4
3g.38575418T>GCA352138237SCN5Ac.3542A>C (p.Asp1181Ala)
c.3545A>C (p.Asp1182Ala)
c.3383A>C (p.Asp1128Ala)
c.3416A>C (p.Asp1139Ala)
3g.38575419C>ACA352138238SCN5Ac.3541G>T (p.Asp1181Tyr)
c.3544G>T (p.Asp1182Tyr)
c.3382G>T (p.Asp1128Tyr)
c.3415G>T (p.Asp1139Tyr)
3g.38575419C=CA1358572581SCN5Ac.3541G= (p.Asp1181=)
c.3544G= (p.Asp1182=)
c.3382G= (p.Asp1128=)
c.3415G= (p.Asp1139=)
3g.38575419C>GCA352138240SCN5Ac.3541G>C (p.Asp1181His)
c.3544G>C (p.Asp1182His)
c.3382G>C (p.Asp1128His)
c.3415G>C (p.Asp1139His)
3g.38575419C>TCA352138239SCN5Ac.3541G>A (p.Asp1181Asn)
c.3544G>A (p.Asp1182Asn)
c.3382G>A (p.Asp1128Asn)
c.3415G>A (p.Asp1139Asn)
 dbSNP gnomAD v3 gnomAD v4
3g.38575420C>ACA433134068SCN5Ac.3540G>T (p.Val1180=)
c.3543G>T (p.Val1181=)
c.3381G>T (p.Val1127=)
c.3414G>T (p.Val1138=)
 gnomAD v4
3g.38575420C=CA1358572582SCN5Ac.3540G= (p.Val1180=)
c.3543G= (p.Val1181=)
c.3381G= (p.Val1127=)
c.3414G= (p.Val1138=)
3g.38575420C>GCA433134069SCN5Ac.3540G>C (p.Val1180=)
c.3543G>C (p.Val1181=)
c.3381G>C (p.Val1127=)
c.3414G>C (p.Val1138=)
3g.38575420C>TCA433134070SCN5Ac.3540G>A (p.Val1180=)
c.3543G>A (p.Val1181=)
c.3381G>A (p.Val1127=)
c.3414G>A (p.Val1138=)
 ClinVar dbSNP
3g.38575421A=CA1358572583SCN5Ac.3539T= (p.Val1180=)
c.3542T= (p.Val1181=)
c.3380T= (p.Val1127=)
c.3413T= (p.Val1138=)
3g.38575421A>CCA352138241SCN5Ac.3539T>G (p.Val1180Gly)
c.3542T>G (p.Val1181Gly)
c.3380T>G (p.Val1127Gly)
c.3413T>G (p.Val1138Gly)
3g.38575421A>GCA062009SCN5Ac.3539T>C (p.Val1180Ala)
c.3542T>C (p.Val1181Ala)
c.3380T>C (p.Val1127Ala)
c.3413T>C (p.Val1138Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38575421A>TCA352138242SCN5Ac.3539T>A (p.Val1180Glu)
c.3542T>A (p.Val1181Glu)
c.3380T>A (p.Val1127Glu)
c.3413T>A (p.Val1138Glu)
3g.38575422C>ACA017238SCN5Ac.3538G>T (p.Val1180Leu)
c.3541G>T (p.Val1181Leu)
c.3379G>T (p.Val1127Leu)
c.3412G>T (p.Val1138Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38575422C=CA1358572584SCN5Ac.3538G= (p.Val1180=)
c.3541G= (p.Val1181=)
c.3379G= (p.Val1127=)
c.3412G= (p.Val1138=)
3g.38575422C>GCA352138243SCN5Ac.3538G>C (p.Val1180Leu)
c.3541G>C (p.Val1181Leu)
c.3379G>C (p.Val1127Leu)
c.3412G>C (p.Val1138Leu)
3g.38575422C>TCA352138244SCN5Ac.3538G>A (p.Val1180Met)
c.3541G>A (p.Val1181Met)
c.3379G>A (p.Val1127Met)
c.3412G>A (p.Val1138Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38575423C>ACA433134071SCN5Ac.3537G>T (p.Ala1179=)
c.3540G>T (p.Ala1180=)
c.3378G>T (p.Ala1126=)
c.3411G>T (p.Ala1137=)
 ClinVar gnomAD v4
3g.38575423C=CA1358572585SCN5Ac.3537G= (p.Ala1179=)
c.3540G= (p.Ala1180=)
c.3378G= (p.Ala1126=)
c.3411G= (p.Ala1137=)
3g.38575423C>GCA433134072SCN5Ac.3537G>C (p.Ala1179=)
c.3540G>C (p.Ala1180=)
c.3378G>C (p.Ala1126=)
c.3411G>C (p.Ala1137=)
3g.38575423C>TCA017231SCN5Ac.3537G>A (p.Ala1179=)
c.3540G>A (p.Ala1180=)
c.3378G>A (p.Ala1126=)
c.3411G>A (p.Ala1137=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38575424G>ACA017225SCN5Ac.3536C>T (p.Ala1179Val)
c.3539C>T (p.Ala1180Val)
c.3377C>T (p.Ala1126Val)
c.3410C>T (p.Ala1137Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38575424G>CCA352138245SCN5Ac.3536C>G (p.Ala1179Gly)
c.3539C>G (p.Ala1180Gly)
c.3377C>G (p.Ala1126Gly)
c.3410C>G (p.Ala1137Gly)
3g.38575424G=CA1358572586SCN5Ac.3536C= (p.Ala1179=)
c.3539C= (p.Ala1180=)
c.3377C= (p.Ala1126=)
c.3410C= (p.Ala1137=)
3g.38575424G>TCA352138246SCN5Ac.3536C>A (p.Ala1179Glu)
c.3539C>A (p.Ala1180Glu)
c.3377C>A (p.Ala1126Glu)
c.3410C>A (p.Ala1137Glu)
3g.38575425C>ACA352138247SCN5Ac.3535G>T (p.Ala1179Ser)
c.3538G>T (p.Ala1180Ser)
c.3376G>T (p.Ala1126Ser)
c.3409G>T (p.Ala1137Ser)
 ClinVar dbSNP gnomAD v4
3g.38575425C=CA1358572587SCN5Ac.3535G= (p.Ala1179=)
c.3538G= (p.Ala1180=)
c.3376G= (p.Ala1126=)
c.3409G= (p.Ala1137=)
3g.38575425C>GCA352138248SCN5Ac.3535G>C (p.Ala1179Pro)
c.3538G>C (p.Ala1180Pro)
c.3376G>C (p.Ala1126Pro)
c.3409G>C (p.Ala1137Pro)
3g.38575425C>TCA352138249SCN5Ac.3535G>A (p.Ala1179Thr)
c.3538G>A (p.Ala1180Thr)
c.3376G>A (p.Ala1126Thr)
c.3409G>A (p.Ala1137Thr)
 ClinVar dbSNP
3g.38575426A=CA1358572588SCN5Ac.3534T= (p.Cys1178=)
c.3537T= (p.Cys1179=)
c.3375T= (p.Cys1125=)
c.3408T= (p.Cys1136=)
3g.38575426A>CCA352138250SCN5Ac.3534T>G (p.Cys1178Trp)
c.3537T>G (p.Cys1179Trp)
c.3375T>G (p.Cys1125Trp)
c.3408T>G (p.Cys1136Trp)
3g.38575426A>GCA061992SCN5Ac.3534T>C (p.Cys1178=)
c.3537T>C (p.Cys1179=)
c.3375T>C (p.Cys1125=)
c.3408T>C (p.Cys1136=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38575426A>TCA352138251SCN5Ac.3534T>A (p.Cys1178Ter)
c.3537T>A (p.Cys1179Ter)
c.3375T>A (p.Cys1125Ter)
c.3408T>A (p.Cys1136Ter)
 dbSNP
3g.38575427C>ACA352138252SCN5Ac.3533G>T (p.Cys1178Phe)
c.3536G>T (p.Cys1179Phe)
c.3374G>T (p.Cys1125Phe)
c.3407G>T (p.Cys1136Phe)
3g.38575427C>GCA352138254SCN5Ac.3533G>C (p.Cys1178Ser)
c.3536G>C (p.Cys1179Ser)
c.3374G>C (p.Cys1125Ser)
c.3407G>C (p.Cys1136Ser)
3g.38575427C>TCA352138253SCN5Ac.3533G>A (p.Cys1178Tyr)
c.3536G>A (p.Cys1179Tyr)
c.3374G>A (p.Cys1125Tyr)
c.3407G>A (p.Cys1136Tyr)
 gnomAD v4
3g.38575428A>CCA352138255SCN5Ac.3532T>G (p.Cys1178Gly)
c.3535T>G (p.Cys1179Gly)
c.3373T>G (p.Cys1125Gly)
c.3406T>G (p.Cys1136Gly)
3g.38575428A>GCA352138256SCN5Ac.3532T>C (p.Cys1178Arg)
c.3535T>C (p.Cys1179Arg)
c.3373T>C (p.Cys1125Arg)
c.3406T>C (p.Cys1136Arg)
3g.38575428A>TCA352138257SCN5Ac.3532T>A (p.Cys1178Ser)
c.3535T>A (p.Cys1179Ser)
c.3373T>A (p.Cys1125Ser)
c.3406T>A (p.Cys1136Ser)
 ClinVar dbSNP
3g.38575429G>ACA433134074SCN5Ac.3531C>T (p.Cys1177=)
c.3534C>T (p.Cys1178=)
c.3372C>T (p.Cys1124=)
c.3405C>T (p.Cys1135=)
3g.38575429G>CCA352138258SCN5Ac.3531C>G (p.Cys1177Trp)
c.3534C>G (p.Cys1178Trp)
c.3372C>G (p.Cys1124Trp)
c.3405C>G (p.Cys1135Trp)
3g.38575429G=CA1358572589SCN5Ac.3531C= (p.Cys1177=)
c.3534C= (p.Cys1178=)
c.3372C= (p.Cys1124=)
c.3405C= (p.Cys1135=)
3g.38575429G>TCA352138259SCN5Ac.3531C>A (p.Cys1177Ter)
c.3534C>A (p.Cys1178Ter)
c.3372C>A (p.Cys1124Ter)
c.3405C>A (p.Cys1135Ter)
 dbSNP gnomAD v4
3g.38575429_38575430insGCCCCA2665112176SCN5Ac.3530_3531insGGGC (p.Cys1177TrpfsTer?)
c.3533_3534insGGGC (p.Cys1178TrpfsTer?)
c.3371_3372insGGGC (p.Cys1124TrpfsTer?)
c.3404_3405insGGGC (p.Cys1135TrpfsTer?)
 dbSNP gnomAD v4
3g.38575430C>ACA352138260SCN5Ac.3530G>T (p.Cys1177Phe)
c.3533G>T (p.Cys1178Phe)
c.3371G>T (p.Cys1124Phe)
c.3404G>T (p.Cys1135Phe)
 gnomAD v4
3g.38575430C=CA1358572590SCN5Ac.3530G= (p.Cys1177=)
c.3533G= (p.Cys1178=)
c.3371G= (p.Cys1124=)
c.3404G= (p.Cys1135=)
3g.38575430C>GCA352138261SCN5Ac.3530G>C (p.Cys1177Ser)
c.3533G>C (p.Cys1178Ser)
c.3371G>C (p.Cys1124Ser)
c.3404G>C (p.Cys1135Ser)
 ClinVar dbSNP gnomAD v4
3g.38575430C>TCA352138262SCN5Ac.3530G>A (p.Cys1177Tyr)
c.3533G>A (p.Cys1178Tyr)
c.3371G>A (p.Cys1124Tyr)
c.3404G>A (p.Cys1135Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38575431A>CCA352138263SCN5Ac.3529T>G (p.Cys1177Gly)
c.3532T>G (p.Cys1178Gly)
c.3370T>G (p.Cys1124Gly)
c.3403T>G (p.Cys1135Gly)
3g.38575431A>GCA352138264SCN5Ac.3529T>C (p.Cys1177Arg)
c.3532T>C (p.Cys1178Arg)
c.3370T>C (p.Cys1124Arg)
c.3403T>C (p.Cys1135Arg)
3g.38575431A>TCA352138265SCN5Ac.3529T>A (p.Cys1177Ser)
c.3532T>A (p.Cys1178Ser)
c.3370T>A (p.Cys1124Ser)
c.3403T>A (p.Cys1135Ser)
3g.38575432G>ACA061984SCN5Ac.3528C>T (p.Pro1176=)
c.3531C>T (p.Pro1177=)
c.3369C>T (p.Pro1123=)
c.3402C>T (p.Pro1134=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38575432G>CCA433134076SCN5Ac.3528C>G (p.Pro1176=)
c.3531C>G (p.Pro1177=)
c.3369C>G (p.Pro1123=)
c.3402C>G (p.Pro1134=)
3g.38575432G=CA1358572591SCN5Ac.3528C= (p.Pro1176=)
c.3531C= (p.Pro1177=)
c.3369C= (p.Pro1123=)
c.3402C= (p.Pro1134=)
3g.38575432G>TCA433134077SCN5Ac.3528C>A (p.Pro1176=)
c.3531C>A (p.Pro1177=)
c.3369C>A (p.Pro1123=)
c.3402C>A (p.Pro1134=)
 gnomAD v4
3g.38575433G>ACA352138268SCN5Ac.3527C>T (p.Pro1176Leu)
c.3530C>T (p.Pro1177Leu)
c.3368C>T (p.Pro1123Leu)
c.3401C>T (p.Pro1134Leu)
 gnomAD v4
3g.38575433G>CCA352138266SCN5Ac.3527C>G (p.Pro1176Arg)
c.3530C>G (p.Pro1177Arg)
c.3368C>G (p.Pro1123Arg)
c.3401C>G (p.Pro1134Arg)
3g.38575433G>TCA352138267SCN5Ac.3527C>A (p.Pro1176His)
c.3530C>A (p.Pro1177His)
c.3368C>A (p.Pro1123His)
c.3401C>A (p.Pro1134His)
3g.38575434G>ACA352138269SCN5Ac.3526C>T (p.Pro1176Ser)
c.3529C>T (p.Pro1177Ser)
c.3367C>T (p.Pro1123Ser)
c.3400C>T (p.Pro1134Ser)
 gnomAD v4
3g.38575434G>CCA352138270SCN5Ac.3526C>G (p.Pro1176Ala)
c.3529C>G (p.Pro1177Ala)
c.3367C>G (p.Pro1123Ala)
c.3400C>G (p.Pro1134Ala)
3g.38575434G>TCA352138271SCN5Ac.3526C>A (p.Pro1176Thr)
c.3529C>A (p.Pro1177Thr)
c.3367C>A (p.Pro1123Thr)
c.3400C>A (p.Pro1134Thr)
 gnomAD v4
3g.38575435A>CCA352138272SCN5Ac.3525T>G (p.Cys1175Trp)
c.3528T>G (p.Cys1176Trp)
c.3366T>G (p.Cys1122Trp)
c.3399T>G (p.Cys1133Trp)
3g.38575435A>GCA433134078SCN5Ac.3525T>C (p.Cys1175=)
c.3528T>C (p.Cys1176=)
c.3366T>C (p.Cys1122=)
c.3399T>C (p.Cys1133=)
3g.38575435A>TCA352138273SCN5Ac.3525T>A (p.Cys1175Ter)
c.3528T>A (p.Cys1176Ter)
c.3366T>A (p.Cys1122Ter)
c.3399T>A (p.Cys1133Ter)
3g.38575436C>ACA352138274SCN5Ac.3524G>T (p.Cys1175Phe)
c.3527G>T (p.Cys1176Phe)
c.3365G>T (p.Cys1122Phe)
c.3398G>T (p.Cys1133Phe)
 gnomAD v4
3g.38575436C=CA1358572592SCN5Ac.3524G= (p.Cys1175=)
c.3527G= (p.Cys1176=)
c.3365G= (p.Cys1122=)
c.3398G= (p.Cys1133=)
3g.38575436C>GCA352138275SCN5Ac.3524G>C (p.Cys1175Ser)
c.3527G>C (p.Cys1176Ser)
c.3365G>C (p.Cys1122Ser)
c.3398G>C (p.Cys1133Ser)
3g.38575436C>TCA352138276SCN5Ac.3524G>A (p.Cys1175Tyr)
c.3527G>A (p.Cys1176Tyr)
c.3365G>A (p.Cys1122Tyr)
c.3398G>A (p.Cys1133Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38575437A=CA1358572593SCN5Ac.3523T= (p.Cys1175=)
c.3526T= (p.Cys1176=)
c.3364T= (p.Cys1122=)
c.3397T= (p.Cys1133=)
3g.38575437A>CCA352138277SCN5Ac.3523T>G (p.Cys1175Gly)
c.3526T>G (p.Cys1176Gly)
c.3364T>G (p.Cys1122Gly)
c.3397T>G (p.Cys1133Gly)
3g.38575437A>GCA352138278SCN5Ac.3523T>C (p.Cys1175Arg)
c.3526T>C (p.Cys1176Arg)
c.3364T>C (p.Cys1122Arg)
c.3397T>C (p.Cys1133Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38575437A>TCA352138279SCN5Ac.3523T>A (p.Cys1175Ser)
c.3526T>A (p.Cys1176Ser)
c.3364T>A (p.Cys1122Ser)
c.3397T>A (p.Cys1133Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38575438G>ACA433134080SCN5Ac.3522C>T (p.Arg1174=)
c.3525C>T (p.Arg1175=)
c.3363C>T (p.Arg1121=)
c.3396C>T (p.Arg1132=)
3g.38575438G>CCA433134081SCN5Ac.3522C>G (p.Arg1174=)
c.3525C>G (p.Arg1175=)
c.3363C>G (p.Arg1121=)
c.3396C>G (p.Arg1132=)
3g.38575438G>TCA433134079SCN5Ac.3522C>A (p.Arg1174=)
c.3525C>A (p.Arg1175=)
c.3363C>A (p.Arg1121=)
c.3396C>A (p.Arg1132=)
 gnomAD v4
3g.38575439C>ACA352138281SCN5Ac.3521G>T (p.Arg1174Leu)
c.3524G>T (p.Arg1175Leu)
c.3362G>T (p.Arg1121Leu)
c.3395G>T (p.Arg1132Leu)
 gnomAD v4
3g.38575439C=CA1358572594SCN5Ac.3521G= (p.Arg1174=)
c.3524G= (p.Arg1175=)
c.3362G= (p.Arg1121=)
c.3395G= (p.Arg1132=)
3g.38575439C>GCA352138280SCN5Ac.3521G>C (p.Arg1174Pro)
c.3524G>C (p.Arg1175Pro)
c.3362G>C (p.Arg1121Pro)
c.3395G>C (p.Arg1132Pro)
3g.38575439C>TCA061975SCN5Ac.3521G>A (p.Arg1174His)
c.3524G>A (p.Arg1175His)
c.3362G>A (p.Arg1121His)
c.3395G>A (p.Arg1132His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38575440G>ACA017218SCN5Ac.3520C>T (p.Arg1174Cys)
c.3523C>T (p.Arg1175Cys)
c.3361C>T (p.Arg1121Cys)
c.3394C>T (p.Arg1132Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38575440G>CCA352138282SCN5Ac.3520C>G (p.Arg1174Gly)
c.3523C>G (p.Arg1175Gly)
c.3361C>G (p.Arg1121Gly)
c.3394C>G (p.Arg1132Gly)
 ClinVar
3g.38575440G=CA1358572595SCN5Ac.3520C= (p.Arg1174=)
c.3523C= (p.Arg1175=)
c.3361C= (p.Arg1121=)
c.3394C= (p.Arg1132=)
3g.38575440G>TCA352138283SCN5Ac.3520C>A (p.Arg1174Ser)
c.3523C>A (p.Arg1175Ser)
c.3361C>A (p.Arg1121Ser)
c.3394C>A (p.Arg1132Ser)
3g.38575441C>ACA433134082SCN5Ac.3519G>T (p.Arg1173=)
c.3522G>T (p.Arg1174=)
c.3360G>T (p.Arg1120=)
c.3393G>T (p.Arg1131=)
 gnomAD v4
3g.38575441C=CA1358572596SCN5Ac.3519G= (p.Arg1173=)
c.3522G= (p.Arg1174=)
c.3360G= (p.Arg1120=)
c.3393G= (p.Arg1131=)
3g.38575441C>GCA433134083SCN5Ac.3519G>C (p.Arg1173=)
c.3522G>C (p.Arg1174=)
c.3360G>C (p.Arg1120=)
c.3393G>C (p.Arg1131=)
3g.38575441C>TCA433134084SCN5Ac.3519G>A (p.Arg1173=)
c.3522G>A (p.Arg1174=)
c.3360G>A (p.Arg1120=)
c.3393G>A (p.Arg1131=)
 dbSNP gnomAD v3 gnomAD v4
3g.38575442delCA2665112177SCN5Ac.3519del (p.Arg1174AlafsTer?)
c.3522del (p.Arg1175AlafsTer?)
c.3360del (p.Arg1121AlafsTer?)
c.3393del (p.Arg1132AlafsTer?)
 gnomAD v4
3g.38575442C>ACA352138284SCN5Ac.3518G>T (p.Arg1173Leu)
c.3521G>T (p.Arg1174Leu)
c.3359G>T (p.Arg1120Leu)
c.3392G>T (p.Arg1131Leu)
 gnomAD v4 COSMIC COSMIC COSMIC
3g.38575442C=CA1358572597SCN5Ac.3518G= (p.Arg1173=)
c.3521G= (p.Arg1174=)
c.3359G= (p.Arg1120=)
c.3392G= (p.Arg1131=)
3g.38575442C>GCA352138285SCN5Ac.3518G>C (p.Arg1173Pro)
c.3521G>C (p.Arg1174Pro)
c.3359G>C (p.Arg1120Pro)
c.3392G>C (p.Arg1131Pro)
3g.38575442C>TCA061967SCN5Ac.3518G>A (p.Arg1173Gln)
c.3521G>A (p.Arg1174Gln)
c.3359G>A (p.Arg1120Gln)
c.3392G>A (p.Arg1131Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38575443G>ACA061963SCN5Ac.3517C>T (p.Arg1173Trp)
c.3520C>T (p.Arg1174Trp)
c.3358C>T (p.Arg1120Trp)
c.3391C>T (p.Arg1131Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38575443G>CCA352138286SCN5Ac.3517C>G (p.Arg1173Gly)
c.3520C>G (p.Arg1174Gly)
c.3358C>G (p.Arg1120Gly)
c.3391C>G (p.Arg1131Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38575443G=CA1358572598SCN5Ac.3517C= (p.Arg1173=)
c.3520C= (p.Arg1174=)
c.3358C= (p.Arg1120=)
c.3391C= (p.Arg1131=)
3g.38575443G>TCA433134085SCN5Ac.3517C>A (p.Arg1173=)
c.3520C>A (p.Arg1174=)
c.3358C>A (p.Arg1120=)
c.3391C>A (p.Arg1131=)
 gnomAD v4
3g.38575444G>ACA433134086SCN5Ac.3516C>T (p.Val1172=)
c.3519C>T (p.Val1173=)
c.3357C>T (p.Val1119=)
c.3390C>T (p.Val1130=)
3g.38575444G>CCA433134087SCN5Ac.3516C>G (p.Val1172=)
c.3519C>G (p.Val1173=)
c.3357C>G (p.Val1119=)
c.3390C>G (p.Val1130=)
3g.38575444G>TCA433134088SCN5Ac.3516C>A (p.Val1172=)
c.3519C>A (p.Val1173=)
c.3357C>A (p.Val1119=)
c.3390C>A (p.Val1130=)
 gnomAD v4
3g.38575444_38575446delinsGACCA1358572599SCN5Ac.3514_3516delinsGTC (p.Val1172=)
c.3517_3519delinsGTC (p.Val1173=)
c.3355_3357delinsGTC (p.Val1119=)
c.3388_3390delinsGTC (p.Val1130=)
3g.38575445A=CA1358572600SCN5Ac.3515T= (p.Val1172=)
c.3518T= (p.Val1173=)
c.3356T= (p.Val1119=)
c.3389T= (p.Val1130=)
3g.38575445A>CCA352138287SCN5Ac.3515T>G (p.Val1172Gly)
c.3518T>G (p.Val1173Gly)
c.3356T>G (p.Val1119Gly)
c.3389T>G (p.Val1130Gly)
3g.38575445A>GCA352138288SCN5Ac.3515T>C (p.Val1172Ala)
c.3518T>C (p.Val1173Ala)
c.3356T>C (p.Val1119Ala)
c.3389T>C (p.Val1130Ala)
3g.38575445A>TCA061959SCN5Ac.3515T>A (p.Val1172Asp)
c.3518T>A (p.Val1173Asp)
c.3356T>A (p.Val1119Asp)
c.3389T>A (p.Val1130Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38575448_38575449delCA017210SCN5Ac.3514_3515del (p.Val1172ProfsTer?)
c.3517_3518del (p.Val1173ProfsTer?)
c.3355_3356del (p.Val1119ProfsTer?)
c.3388_3389del (p.Val1130ProfsTer?)
 ClinVar dbSNP
3g.38575446C>ACA352138290SCN5Ac.3514G>T (p.Val1172Phe)
c.3517G>T (p.Val1173Phe)
c.3355G>T (p.Val1119Phe)
c.3388G>T (p.Val1130Phe)
 gnomAD v4
3g.38575446C=CA1358572601SCN5Ac.3514G= (p.Val1172=)
c.3517G= (p.Val1173=)
c.3355G= (p.Val1119=)
c.3388G= (p.Val1130=)
3g.38575446C>GCA352138291SCN5Ac.3514G>C (p.Val1172Leu)
c.3517G>C (p.Val1173Leu)
c.3355G>C (p.Val1119Leu)
c.3388G>C (p.Val1130Leu)
 gnomAD v4
3g.38575446C>TCA352138289SCN5Ac.3514G>A (p.Val1172Ile)
c.3517G>A (p.Val1173Ile)
c.3355G>A (p.Val1119Ile)
c.3388G>A (p.Val1130Ile)
 ClinVar dbSNP
3g.38575447A=CA1358572602SCN5Ac.3513T= (p.Cys1171=)
c.3516T= (p.Cys1172=)
c.3354T= (p.Cys1118=)
c.3387T= (p.Cys1129=)
3g.38575447A>CCA352138293SCN5Ac.3513T>G (p.Cys1171Trp)
c.3516T>G (p.Cys1172Trp)
c.3354T>G (p.Cys1118Trp)
c.3387T>G (p.Cys1129Trp)
3g.38575447A>GCA433134089SCN5Ac.3513T>C (p.Cys1171=)
c.3516T>C (p.Cys1172=)
c.3354T>C (p.Cys1118=)
c.3387T>C (p.Cys1129=)
 ClinVar
3g.38575447A>TCA352138292SCN5Ac.3513T>A (p.Cys1171Ter)
c.3516T>A (p.Cys1172Ter)
c.3354T>A (p.Cys1118Ter)
c.3387T>A (p.Cys1129Ter)
 dbSNP
3g.38575448C>ACA352138295SCN5Ac.3512G>T (p.Cys1171Phe)
c.3515G>T (p.Cys1172Phe)
c.3353G>T (p.Cys1118Phe)
c.3386G>T (p.Cys1129Phe)
 dbSNP gnomAD v3 gnomAD v4
3g.38575448C=CA1358572603SCN5Ac.3512G= (p.Cys1171=)
c.3515G= (p.Cys1172=)
c.3353G= (p.Cys1118=)
c.3386G= (p.Cys1129=)
3g.38575448C>GCA352138294SCN5Ac.3512G>C (p.Cys1171Ser)
c.3515G>C (p.Cys1172Ser)
c.3353G>C (p.Cys1118Ser)
c.3386G>C (p.Cys1129Ser)
 gnomAD v4
3g.38575448C>TCA352138296SCN5Ac.3512G>A (p.Cys1171Tyr)
c.3515G>A (p.Cys1172Tyr)
c.3353G>A (p.Cys1118Tyr)
c.3386G>A (p.Cys1129Tyr)
 gnomAD v4
3g.38575449A>CCA352138297SCN5Ac.3511T>G (p.Cys1171Gly)
c.3514T>G (p.Cys1172Gly)
c.3352T>G (p.Cys1118Gly)
c.3385T>G (p.Cys1129Gly)
3g.38575449A>GCA352138299SCN5Ac.3511T>C (p.Cys1171Arg)
c.3514T>C (p.Cys1172Arg)
c.3352T>C (p.Cys1118Arg)
c.3385T>C (p.Cys1129Arg)
3g.38575449A>TCA352138298SCN5Ac.3511T>A (p.Cys1171Ser)
c.3514T>A (p.Cys1172Ser)
c.3352T>A (p.Cys1118Ser)
c.3385T>A (p.Cys1129Ser)
 gnomAD v4
3g.38575450G>ACA433134090SCN5Ac.3510C>T (p.Gly1170=)
c.3513C>T (p.Gly1171=)
c.3351C>T (p.Gly1117=)
c.3384C>T (p.Gly1128=)
 gnomAD v4
3g.38575450G>CCA433134091SCN5Ac.3510C>G (p.Gly1170=)
c.3513C>G (p.Gly1171=)
c.3351C>G (p.Gly1117=)
c.3384C>G (p.Gly1128=)
3g.38575450G>TCA433134092SCN5Ac.3510C>A (p.Gly1170=)
c.3513C>A (p.Gly1171=)
c.3351C>A (p.Gly1117=)
c.3384C>A (p.Gly1128=)
 gnomAD v4 COSMIC COSMIC COSMIC
3g.38575451C>ACA352138300SCN5Ac.3509G>T (p.Gly1170Val)
c.3512G>T (p.Gly1171Val)
c.3350G>T (p.Gly1117Val)
c.3383G>T (p.Gly1128Val)
 gnomAD v4 COSMIC COSMIC COSMIC
3g.38575451C=CA1358572604SCN5Ac.3509G= (p.Gly1170=)
c.3512G= (p.Gly1171=)
c.3350G= (p.Gly1117=)
c.3383G= (p.Gly1128=)
3g.38575451C>GCA352138301SCN5Ac.3509G>C (p.Gly1170Ala)
c.3512G>C (p.Gly1171Ala)
c.3350G>C (p.Gly1117Ala)
c.3383G>C (p.Gly1128Ala)
3g.38575451C>TCA10582192SCN5Ac.3509G>A (p.Gly1170Asp)
c.3512G>A (p.Gly1171Asp)
c.3350G>A (p.Gly1117Asp)
c.3383G>A (p.Gly1128Asp)
 ClinVar dbSNP gnomAD v4
3g.38575452C>ACA352138302SCN5Ac.3509-1G>T (n.3509-1G>T)
c.3512-1G>T (n.3512-1G>T)
c.3350-1G>T (n.3350-1G>T)
c.3383-1G>T (n.3383-1G>T)
 gnomAD v4
3g.38575452C=CA1358572605SCN5Ac.3509-1G= (n.3509-1G=)
c.3512-1G= (n.3512-1G=)
c.3350-1G= (n.3350-1G=)
c.3383-1G= (n.3383-1G=)
3g.38575452C>GCA352138303SCN5Ac.3509-1G>C (n.3509-1G>C)
c.3512-1G>C (n.3512-1G>C)
c.3350-1G>C (n.3350-1G>C)
c.3383-1G>C (n.3383-1G>C)
 ClinVar dbSNP
3g.38575452C>TCA352138304SCN5Ac.3509-1G>A (n.3509-1G>A)
c.3512-1G>A (n.3512-1G>A)
c.3350-1G>A (n.3350-1G>A)
c.3383-1G>A (n.3383-1G>A)
 ClinVar dbSNP
3g.38575453T>ACA352138305SCN5Ac.3509-2A>T (n.3509-2A>T)
c.3512-2A>T (n.3512-2A>T)
c.3350-2A>T (n.3350-2A>T)
c.3383-2A>T (n.3383-2A>T)
3g.38575453T>CCA352138306SCN5Ac.3509-2A>G (n.3509-2A>G)
c.3512-2A>G (n.3512-2A>G)
c.3350-2A>G (n.3350-2A>G)
c.3383-2A>G (n.3383-2A>G)
 gnomAD v4
3g.38575453T>GCA352138307SCN5Ac.3509-2A>C (n.3509-2A>C)
c.3512-2A>C (n.3512-2A>C)
c.3350-2A>C (n.3350-2A>C)
c.3383-2A>C (n.3383-2A>C)
3g.38575454A=CA1358572606SCN5Ac.3509-3T= (n.3509-3T=)
c.3512-3T= (n.3512-3T=)
c.3350-3T= (n.3350-3T=)
c.3383-3T= (n.3383-3T=)
3g.38575454A>GCA72923265SCN5Ac.3509-3T>C (n.3509-3T>C)
c.3512-3T>C (n.3512-3T>C)
c.3350-3T>C (n.3350-3T>C)
c.3383-3T>C (n.3383-3T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38575456G>ACA2665112178SCN5Ac.3509-5C>T (n.3509-5C>T)
c.3512-5C>T (n.3512-5C>T)
c.3350-5C>T (n.3350-5C>T)
c.3383-5C>T (n.3383-5C>T)
 gnomAD v4
3g.38575456G>CCA2577553101SCN5Ac.3509-5C>G (n.3509-5C>G)
c.3512-5C>G (n.3512-5C>G)
c.3350-5C>G (n.3350-5C>G)
c.3383-5C>G (n.3383-5C>G)
3g.38575456G>TCA2665112179SCN5Ac.3509-5C>A (n.3509-5C>A)
c.3512-5C>A (n.3512-5C>A)
c.3350-5C>A (n.3350-5C>A)
c.3383-5C>A (n.3383-5C>A)
 gnomAD v4
3g.38575458delCA2577553100SCN5Ac.3509-5del (n.3509-5del)
c.3512-5del (n.3512-5del)
c.3350-5del (n.3350-5del)
c.3383-5del (n.3383-5del)
3g.38575457G>ACA2499216747SCN5Ac.3509-6C>T (n.3509-6C>T)
c.3512-6C>T (n.3512-6C>T)
c.3350-6C>T (n.3350-6C>T)
c.3383-6C>T (n.3383-6C>T)
 ClinVar dbSNP gnomAD v4
3g.38575457_38575459delinsGGACA1358572607SCN5Ac.3509-8_3509-6delinsTCC (n.3509-8_3509-6delinsTCC)
c.3512-8_3512-6delinsTCC (n.3512-8_3512-6delinsTCC)
c.3350-8_3350-6delinsTCC (n.3350-8_3350-6delinsTCC)
c.3383-8_3383-6delinsTCC (n.3383-8_3383-6delinsTCC)
3g.38575458G>ACA2665112180SCN5Ac.3509-7C>T (n.3509-7C>T)
c.3512-7C>T (n.3512-7C>T)
c.3350-7C>T (n.3350-7C>T)
c.3383-7C>T (n.3383-7C>T)
 gnomAD v4
3g.38575458G>CCA2573136260SCN5Ac.3509-7C>G (n.3509-7C>G)
c.3512-7C>G (n.3512-7C>G)
c.3350-7C>G (n.3350-7C>G)
c.3383-7C>G (n.3383-7C>G)
 ClinVar dbSNP
3g.38575458G>TCA2665112181SCN5Ac.3509-7C>A (n.3509-7C>A)
c.3512-7C>A (n.3512-7C>A)
c.3350-7C>A (n.3350-7C>A)
c.3383-7C>A (n.3383-7C>A)
 gnomAD v4
3g.38575463_38575464delCA542615676SCN5Ac.3509-8_3509-7del (n.3509-8_3509-7del)
c.3512-8_3512-7del (n.3512-8_3512-7del)
c.3350-8_3350-7del (n.3350-8_3350-7del)
c.3383-8_3383-7del (n.3383-8_3383-7del)
 dbSNP gnomAD v2 gnomAD v4
3g.38575459A=CA1358572608SCN5Ac.3509-8T= (n.3509-8T=)
c.3512-8T= (n.3512-8T=)
c.3350-8T= (n.3350-8T=)
c.3383-8T= (n.3383-8T=)
3g.38575459A>GCA542615677SCN5Ac.3509-8T>C (n.3509-8T>C)
c.3512-8T>C (n.3512-8T>C)
c.3350-8T>C (n.3350-8T>C)
c.3383-8T>C (n.3383-8T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38575460G>ACA542615678SCN5Ac.3509-9C>T (n.3509-9C>T)
c.3512-9C>T (n.3512-9C>T)
c.3350-9C>T (n.3350-9C>T)
c.3383-9C>T (n.3383-9C>T)
 ClinVar dbSNP gnomAD v2
3g.38575460G=CA1358572609SCN5Ac.3509-9C= (n.3509-9C=)
c.3512-9C= (n.3512-9C=)
c.3350-9C= (n.3350-9C=)
c.3383-9C= (n.3383-9C=)
3g.38575460G>TCA2665112182SCN5Ac.3509-9C>A (n.3509-9C>A)
c.3512-9C>A (n.3512-9C>A)
c.3350-9C>A (n.3350-9C>A)
c.3383-9C>A (n.3383-9C>A)
 gnomAD v4

Number of alleles fetched