Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38560316T>ACA062799SCN5Ac.4073A>T (p.Lys1358Met)
c.4076A>T (p.Lys1359Met)
c.3914A>T (p.Lys1305Met)
c.3947A>T (p.Lys1316Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38560316T>CCA352147134SCN5Ac.4073A>G (p.Lys1358Arg)
c.4076A>G (p.Lys1359Arg)
c.3914A>G (p.Lys1305Arg)
c.3947A>G (p.Lys1316Arg)
3g.38560316T>GCA352147136SCN5Ac.4073A>C (p.Lys1358Thr)
c.4076A>C (p.Lys1359Thr)
c.3914A>C (p.Lys1305Thr)
c.3947A>C (p.Lys1316Thr)
 ClinVar dbSNP
3g.38560316T=CA1358565719SCN5Ac.4073A= (p.Lys1358=)
c.4076A= (p.Lys1359=)
c.3914A= (p.Lys1305=)
c.3947A= (p.Lys1316=)
3g.38560317T>ACA352147138SCN5Ac.4072A>T (p.Lys1358Ter)
c.4075A>T (p.Lys1359Ter)
c.3913A>T (p.Lys1305Ter)
c.3946A>T (p.Lys1316Ter)
 dbSNP
3g.38560317T>CCA352147141SCN5Ac.4072A>G (p.Lys1358Glu)
c.4075A>G (p.Lys1359Glu)
c.3913A>G (p.Lys1305Glu)
c.3946A>G (p.Lys1316Glu)
3g.38560317T>GCA352147144SCN5Ac.4072A>C (p.Lys1358Gln)
c.4075A>C (p.Lys1359Gln)
c.3913A>C (p.Lys1305Gln)
c.3946A>C (p.Lys1316Gln)
3g.38560317T=CA1358565720SCN5Ac.4072A= (p.Lys1358=)
c.4075A= (p.Lys1359=)
c.3913A= (p.Lys1305=)
c.3946A= (p.Lys1316=)
3g.38560318C>ACA433332442SCN5Ac.4071G>T (p.Gly1357=)
c.4074G>T (p.Gly1358=)
c.3912G>T (p.Gly1304=)
c.3945G>T (p.Gly1315=)
3g.38560318C=CA1358565721SCN5Ac.4071G= (p.Gly1357=)
c.4074G= (p.Gly1358=)
c.3912G= (p.Gly1304=)
c.3945G= (p.Gly1315=)
3g.38560318C>GCA433332443SCN5Ac.4071G>C (p.Gly1357=)
c.4074G>C (p.Gly1358=)
c.3912G>C (p.Gly1304=)
c.3945G>C (p.Gly1315=)
3g.38560318C>TCA062794SCN5Ac.4071G>A (p.Gly1357=)
c.4074G>A (p.Gly1358=)
c.3912G>A (p.Gly1304=)
c.3945G>A (p.Gly1315=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38560319C>ACA352147160SCN5Ac.4070G>T (p.Gly1357Val)
c.4073G>T (p.Gly1358Val)
c.3911G>T (p.Gly1304Val)
c.3944G>T (p.Gly1315Val)
3g.38560319C=CA1358565722SCN5Ac.4070G= (p.Gly1357=)
c.4073G= (p.Gly1358=)
c.3911G= (p.Gly1304=)
c.3944G= (p.Gly1315=)
3g.38560319C>GCA352147158SCN5Ac.4070G>C (p.Gly1357Ala)
c.4073G>C (p.Gly1358Ala)
c.3911G>C (p.Gly1304Ala)
c.3944G>C (p.Gly1315Ala)
3g.38560319C>TCA352147155SCN5Ac.4070G>A (p.Gly1357Glu)
c.4073G>A (p.Gly1358Glu)
c.3911G>A (p.Gly1304Glu)
c.3944G>A (p.Gly1315Glu)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
3g.38560320C>ACA017852SCN5Ac.4069G>T (p.Gly1357Trp)
c.4072G>T (p.Gly1358Trp)
c.3910G>T (p.Gly1304Trp)
c.3943G>T (p.Gly1315Trp)
 ClinVar dbSNP
3g.38560320C=CA1358565723SCN5Ac.4069G= (p.Gly1357=)
c.4072G= (p.Gly1358=)
c.3910G= (p.Gly1304=)
c.3943G= (p.Gly1315=)
3g.38560320C>GCA352147166SCN5Ac.4069G>C (p.Gly1357Arg)
c.4072G>C (p.Gly1358Arg)
c.3910G>C (p.Gly1304Arg)
c.3943G>C (p.Gly1315Arg)
3g.38560320C>TCA352147167SCN5Ac.4069G>A (p.Gly1357Arg)
c.4072G>A (p.Gly1358Arg)
c.3910G>A (p.Gly1304Arg)
c.3943G>A (p.Gly1315Arg)
 dbSNP gnomAD v2 gnomAD v4
3g.38560321C>ACA433332444SCN5Ac.4068G>T (p.Ala1356=)
c.4071G>T (p.Ala1357=)
c.3909G>T (p.Ala1303=)
c.3942G>T (p.Ala1314=)
 gnomAD v3 gnomAD v4
3g.38560321C=CA1358565724SCN5Ac.4068G= (p.Ala1356=)
c.4071G= (p.Ala1357=)
c.3909G= (p.Ala1303=)
c.3942G= (p.Ala1314=)
3g.38560321C>GCA433332445SCN5Ac.4068G>C (p.Ala1356=)
c.4071G>C (p.Ala1357=)
c.3909G>C (p.Ala1303=)
c.3942G>C (p.Ala1314=)
 ClinVar dbSNP
3g.38560321C>TCA062789SCN5Ac.4068G>A (p.Ala1356=)
c.4071G>A (p.Ala1357=)
c.3909G>A (p.Ala1303=)
c.3942G>A (p.Ala1314=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38560322G>ACA017845SCN5Ac.4067C>T (p.Ala1356Val)
c.4070C>T (p.Ala1357Val)
c.3908C>T (p.Ala1303Val)
c.3941C>T (p.Ala1314Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38560322G>CCA352147173SCN5Ac.4067C>G (p.Ala1356Gly)
c.4070C>G (p.Ala1357Gly)
c.3908C>G (p.Ala1303Gly)
c.3941C>G (p.Ala1314Gly)
 gnomAD v4
3g.38560322G=CA1358565725SCN5Ac.4067C= (p.Ala1356=)
c.4070C= (p.Ala1357=)
c.3908C= (p.Ala1303=)
c.3941C= (p.Ala1314=)
3g.38560322G>TCA352147176SCN5Ac.4067C>A (p.Ala1356Glu)
c.4070C>A (p.Ala1357Glu)
c.3908C>A (p.Ala1303Glu)
c.3941C>A (p.Ala1314Glu)
 gnomAD v4
3g.38560323C>ACA352147177SCN5Ac.4066G>T (p.Ala1356Ser)
c.4069G>T (p.Ala1357Ser)
c.3907G>T (p.Ala1303Ser)
c.3940G>T (p.Ala1314Ser)
 gnomAD v4
3g.38560323C>GCA352147178SCN5Ac.4066G>C (p.Ala1356Pro)
c.4069G>C (p.Ala1357Pro)
c.3907G>C (p.Ala1303Pro)
c.3940G>C (p.Ala1314Pro)
3g.38560323C>TCA352147179SCN5Ac.4066G>A (p.Ala1356Thr)
c.4069G>A (p.Ala1357Thr)
c.3907G>A (p.Ala1303Thr)
c.3940G>A (p.Ala1314Thr)
3g.38560324A=CA1358565726SCN5Ac.4065T= (p.Phe1355=)
c.4068T= (p.Phe1356=)
c.3906T= (p.Phe1302=)
c.3939T= (p.Phe1313=)
3g.38560324A>CCA352147182SCN5Ac.4065T>G (p.Phe1355Leu)
c.4068T>G (p.Phe1356Leu)
c.3906T>G (p.Phe1302Leu)
c.3939T>G (p.Phe1313Leu)
3g.38560324A>GCA433332446SCN5Ac.4065T>C (p.Phe1355=)
c.4068T>C (p.Phe1356=)
c.3906T>C (p.Phe1302=)
c.3939T>C (p.Phe1313=)
 ClinVar dbSNP
3g.38560324A>TCA352147184SCN5Ac.4065T>A (p.Phe1355Leu)
c.4068T>A (p.Phe1356Leu)
c.3906T>A (p.Phe1302Leu)
c.3939T>A (p.Phe1313Leu)
3g.38560325_38560326delCA2586965778SCN5Ac.4064_4065del (p.Phe1355CysfsTer29)
c.4067_4068del (p.Phe1356CysfsTer29)
c.3905_3906del (p.Phe1302CysfsTer29)
c.3938_3939del (p.Phe1313CysfsTer29)
3g.38560325A>CCA352147189SCN5Ac.4064T>G (p.Phe1355Cys)
c.4067T>G (p.Phe1356Cys)
c.3905T>G (p.Phe1302Cys)
c.3938T>G (p.Phe1313Cys)
3g.38560325A>GCA352147188SCN5Ac.4064T>C (p.Phe1355Ser)
c.4067T>C (p.Phe1356Ser)
c.3905T>C (p.Phe1302Ser)
c.3938T>C (p.Phe1313Ser)
3g.38560325A>TCA352147186SCN5Ac.4064T>A (p.Phe1355Tyr)
c.4067T>A (p.Phe1356Tyr)
c.3905T>A (p.Phe1302Tyr)
c.3938T>A (p.Phe1313Tyr)
3g.38560326A>CCA352147192SCN5Ac.4063T>G (p.Phe1355Val)
c.4066T>G (p.Phe1356Val)
c.3904T>G (p.Phe1302Val)
c.3937T>G (p.Phe1313Val)
3g.38560326A>GCA352147208SCN5Ac.4063T>C (p.Phe1355Leu)
c.4066T>C (p.Phe1356Leu)
c.3904T>C (p.Phe1302Leu)
c.3937T>C (p.Phe1313Leu)
3g.38560326A>TCA352147195SCN5Ac.4063T>A (p.Phe1355Ile)
c.4066T>A (p.Phe1356Ile)
c.3904T>A (p.Phe1302Ile)
c.3937T>A (p.Phe1313Ile)
3g.38560327G>ACA72944832SCN5Ac.4062C>T (p.Leu1354=)
c.4065C>T (p.Leu1355=)
c.3903C>T (p.Leu1301=)
c.3936C>T (p.Leu1312=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38560327G>CCA433332447SCN5Ac.4062C>G (p.Leu1354=)
c.4065C>G (p.Leu1355=)
c.3903C>G (p.Leu1301=)
c.3936C>G (p.Leu1312=)
3g.38560327G=CA1358565727SCN5Ac.4062C= (p.Leu1354=)
c.4065C= (p.Leu1355=)
c.3903C= (p.Leu1301=)
c.3936C= (p.Leu1312=)
3g.38560327G>TCA433332448SCN5Ac.4062C>A (p.Leu1354=)
c.4065C>A (p.Leu1355=)
c.3903C>A (p.Leu1301=)
c.3936C>A (p.Leu1312=)
3g.38560328A=CA1358565728SCN5Ac.4061T= (p.Leu1354=)
c.4064T= (p.Leu1355=)
c.3902T= (p.Leu1301=)
c.3935T= (p.Leu1312=)
3g.38560328A>CCA352147211SCN5Ac.4061T>G (p.Leu1354Arg)
c.4064T>G (p.Leu1355Arg)
c.3902T>G (p.Leu1301Arg)
c.3935T>G (p.Leu1312Arg)
3g.38560328A>GCA352147218SCN5Ac.4061T>C (p.Leu1354Pro)
c.4064T>C (p.Leu1355Pro)
c.3902T>C (p.Leu1301Pro)
c.3935T>C (p.Leu1312Pro)
 ClinVar dbSNP
3g.38560328A>TCA352147214SCN5Ac.4061T>A (p.Leu1354His)
c.4064T>A (p.Leu1355His)
c.3902T>A (p.Leu1301His)
c.3935T>A (p.Leu1312His)
3g.38560328_38560332dupCA2665111487SCN5Ac.4057_4061dup (p.Phe1355ThrfsTer20)
c.4060_4064dup (p.Phe1356ThrfsTer20)
c.3898_3902dup (p.Phe1302ThrfsTer20)
c.3931_3935dup (p.Phe1313ThrfsTer20)
 gnomAD v4
3g.38560329G>ACA352147219SCN5Ac.4060C>T (p.Leu1354Phe)
c.4063C>T (p.Leu1355Phe)
c.3901C>T (p.Leu1301Phe)
c.3934C>T (p.Leu1312Phe)
3g.38560329G>CCA352147223SCN5Ac.4060C>G (p.Leu1354Val)
c.4063C>G (p.Leu1355Val)
c.3901C>G (p.Leu1301Val)
c.3934C>G (p.Leu1312Val)
3g.38560329G>TCA352147220SCN5Ac.4060C>A (p.Leu1354Ile)
c.4063C>A (p.Leu1355Ile)
c.3901C>A (p.Leu1301Ile)
c.3934C>A (p.Leu1312Ile)
3g.38560329_38560330delinsGGCA1358565729SCN5Ac.4059_4060delinsCC (p.Asn1353=)
c.4062_4063delinsCC (p.Asn1354=)
c.3900_3901delinsCC (p.Asn1300=)
c.3933_3934delinsCC (p.Asn1311=)
3g.38560329_38560330delinsTTCA1139657974SCN5Ac.4059_4060delinsAA (p.Asn1353_Leu1354delinsLysIle)
c.4062_4063delinsAA (p.Asn1354_Leu1355delinsLysIle)
c.3900_3901delinsAA (p.Asn1300_Leu1301delinsLysIle)
c.3933_3934delinsAA (p.Asn1311_Leu1312delinsLysIle)
 ClinVar dbSNP
3g.38560330G>ACA433332450SCN5Ac.4059C>T (p.Asn1353=)
c.4062C>T (p.Asn1354=)
c.3900C>T (p.Asn1300=)
c.3933C>T (p.Asn1311=)
3g.38560330G>CCA352147227SCN5Ac.4059C>G (p.Asn1353Lys)
c.4062C>G (p.Asn1354Lys)
c.3900C>G (p.Asn1300Lys)
c.3933C>G (p.Asn1311Lys)
3g.38560330G=CA1358565730SCN5Ac.4059C= (p.Asn1353=)
c.4062C= (p.Asn1354=)
c.3900C= (p.Asn1300=)
c.3933C= (p.Asn1311=)
3g.38560330G>TCA352147230SCN5Ac.4059C>A (p.Asn1353Lys)
c.4062C>A (p.Asn1354Lys)
c.3900C>A (p.Asn1300Lys)
c.3933C>A (p.Asn1311Lys)
 dbSNP
3g.38560331T>ACA352147231SCN5Ac.4058A>T (p.Asn1353Ile)
c.4061A>T (p.Asn1354Ile)
c.3899A>T (p.Asn1300Ile)
c.3932A>T (p.Asn1311Ile)
3g.38560331T>CCA352147233SCN5Ac.4058A>G (p.Asn1353Ser)
c.4061A>G (p.Asn1354Ser)
c.3899A>G (p.Asn1300Ser)
c.3932A>G (p.Asn1311Ser)
 COSMIC COSMIC COSMIC
3g.38560331T>GCA352147235SCN5Ac.4058A>C (p.Asn1353Thr)
c.4061A>C (p.Asn1354Thr)
c.3899A>C (p.Asn1300Thr)
c.3932A>C (p.Asn1311Thr)
 COSMIC COSMIC COSMIC
3g.38560332T>ACA352147236SCN5Ac.4057A>T (p.Asn1353Tyr)
c.4060A>T (p.Asn1354Tyr)
c.3898A>T (p.Asn1300Tyr)
c.3931A>T (p.Asn1311Tyr)
3g.38560332T>CCA352147238SCN5Ac.4057A>G (p.Asn1353Asp)
c.4060A>G (p.Asn1354Asp)
c.3898A>G (p.Asn1300Asp)
c.3931A>G (p.Asn1311Asp)
3g.38560332T>GCA72944835SCN5Ac.4057A>C (p.Asn1353His)
c.4060A>C (p.Asn1354His)
c.3898A>C (p.Asn1300His)
c.3931A>C (p.Asn1311His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38560332T=CA1358565731SCN5Ac.4057A= (p.Asn1353=)
c.4060A= (p.Asn1354=)
c.3898A= (p.Asn1300=)
c.3931A= (p.Asn1311=)
3g.38560333C>ACA433332451SCN5Ac.4056G>T (p.Val1352=)
c.4059G>T (p.Val1353=)
c.3897G>T (p.Val1299=)
c.3930G>T (p.Val1310=)
 ClinVar
3g.38560333C=CA1358565732SCN5Ac.4056G= (p.Val1352=)
c.4059G= (p.Val1353=)
c.3897G= (p.Val1299=)
c.3930G= (p.Val1310=)
3g.38560333C>GCA433332452SCN5Ac.4056G>C (p.Val1352=)
c.4059G>C (p.Val1353=)
c.3897G>C (p.Val1299=)
c.3930G>C (p.Val1310=)
3g.38560333C>TCA062777SCN5Ac.4056G>A (p.Val1352=)
c.4059G>A (p.Val1353=)
c.3897G>A (p.Val1299=)
c.3930G>A (p.Val1310=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38560334A>CCA352147243SCN5Ac.4055T>G (p.Val1352Gly)
c.4058T>G (p.Val1353Gly)
c.3896T>G (p.Val1299Gly)
c.3929T>G (p.Val1310Gly)
3g.38560334A>GCA352147246SCN5Ac.4055T>C (p.Val1352Ala)
c.4058T>C (p.Val1353Ala)
c.3896T>C (p.Val1299Ala)
c.3929T>C (p.Val1310Ala)
3g.38560334A>TCA352147248SCN5Ac.4055T>A (p.Val1352Glu)
c.4058T>A (p.Val1353Glu)
c.3896T>A (p.Val1299Glu)
c.3929T>A (p.Val1310Glu)
3g.38560335C>ACA352147250SCN5Ac.4054G>T (p.Val1352Leu)
c.4057G>T (p.Val1353Leu)
c.3895G>T (p.Val1299Leu)
c.3928G>T (p.Val1310Leu)
3g.38560335C=CA1358565733SCN5Ac.4054G= (p.Val1352=)
c.4057G= (p.Val1353=)
c.3895G= (p.Val1299=)
c.3928G= (p.Val1310=)
3g.38560335C>GCA352147252SCN5Ac.4054G>C (p.Val1352Leu)
c.4057G>C (p.Val1353Leu)
c.3895G>C (p.Val1299Leu)
c.3928G>C (p.Val1310Leu)
3g.38560335C>TCA017837SCN5Ac.4054G>A (p.Val1352Met)
c.4057G>A (p.Val1353Met)
c.3895G>A (p.Val1299Met)
c.3928G>A (p.Val1310Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38560336G>ACA017831SCN5Ac.4053C>T (p.Gly1351=)
c.4056C>T (p.Gly1352=)
c.3894C>T (p.Gly1298=)
c.3927C>T (p.Gly1309=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38560336G>CCA433332456SCN5Ac.4053C>G (p.Gly1351=)
c.4056C>G (p.Gly1352=)
c.3894C>G (p.Gly1298=)
c.3927C>G (p.Gly1309=)
3g.38560336G=CA1358565734SCN5Ac.4053C= (p.Gly1351=)
c.4056C= (p.Gly1352=)
c.3894C= (p.Gly1298=)
c.3927C= (p.Gly1309=)
3g.38560336G>TCA433332457SCN5Ac.4053C>A (p.Gly1351=)
c.4056C>A (p.Gly1352=)
c.3894C>A (p.Gly1298=)
c.3927C>A (p.Gly1309=)
3g.38560337C>ACA352147256SCN5Ac.4052G>T (p.Gly1351Val)
c.4055G>T (p.Gly1352Val)
c.3893G>T (p.Gly1298Val)
c.3926G>T (p.Gly1309Val)
3g.38560337C>GCA352147259SCN5Ac.4052G>C (p.Gly1351Ala)
c.4055G>C (p.Gly1352Ala)
c.3893G>C (p.Gly1298Ala)
c.3926G>C (p.Gly1309Ala)
3g.38560337C>TCA352147261SCN5Ac.4052G>A (p.Gly1351Asp)
c.4055G>A (p.Gly1352Asp)
c.3893G>A (p.Gly1298Asp)
c.3926G>A (p.Gly1309Asp)
3g.38560338C>ACA352147263SCN5Ac.4051G>T (p.Gly1351Cys)
c.4054G>T (p.Gly1352Cys)
c.3892G>T (p.Gly1298Cys)
c.3925G>T (p.Gly1309Cys)
3g.38560338C>GCA352147269SCN5Ac.4051G>C (p.Gly1351Arg)
c.4054G>C (p.Gly1352Arg)
c.3892G>C (p.Gly1298Arg)
c.3925G>C (p.Gly1309Arg)
3g.38560338C>TCA352147271SCN5Ac.4051G>A (p.Gly1351Ser)
c.4054G>A (p.Gly1352Ser)
c.3892G>A (p.Gly1298Ser)
c.3925G>A (p.Gly1309Ser)
3g.38560339C>ACA352147274SCN5Ac.4050G>T (p.Met1350Ile)
c.4053G>T (p.Met1351Ile)
c.3891G>T (p.Met1297Ile)
c.3924G>T (p.Met1308Ile)
 ClinVar
3g.38560339C>GCA352147276SCN5Ac.4050G>C (p.Met1350Ile)
c.4053G>C (p.Met1351Ile)
c.3891G>C (p.Met1297Ile)
c.3924G>C (p.Met1308Ile)
3g.38560339C>TCA352147278SCN5Ac.4050G>A (p.Met1350Ile)
c.4053G>A (p.Met1351Ile)
c.3891G>A (p.Met1297Ile)
c.3924G>A (p.Met1308Ile)
3g.38560340A=CA1358565735SCN5Ac.4049T= (p.Met1350=)
c.4052T= (p.Met1351=)
c.3890T= (p.Met1297=)
c.3923T= (p.Met1308=)
3g.38560340A>CCA017824SCN5Ac.4049T>G (p.Met1350Arg)
c.4052T>G (p.Met1351Arg)
c.3890T>G (p.Met1297Arg)
c.3923T>G (p.Met1308Arg)
 ClinVar dbSNP
3g.38560340A>GCA352147281SCN5Ac.4049T>C (p.Met1350Thr)
c.4052T>C (p.Met1351Thr)
c.3890T>C (p.Met1297Thr)
c.3923T>C (p.Met1308Thr)
3g.38560340A>TCA352147282SCN5Ac.4049T>A (p.Met1350Lys)
c.4052T>A (p.Met1351Lys)
c.3890T>A (p.Met1297Lys)
c.3923T>A (p.Met1308Lys)
3g.38560341T>ACA352147288SCN5Ac.4048A>T (p.Met1350Leu)
c.4051A>T (p.Met1351Leu)
c.3889A>T (p.Met1297Leu)
c.3922A>T (p.Met1308Leu)
3g.38560341T>CCA352147287SCN5Ac.4048A>G (p.Met1350Val)
c.4051A>G (p.Met1351Val)
c.3889A>G (p.Met1297Val)
c.3922A>G (p.Met1308Val)
 dbSNP gnomAD v2 gnomAD v4
3g.38560341T>GCA352147285SCN5Ac.4048A>C (p.Met1350Leu)
c.4051A>C (p.Met1351Leu)
c.3889A>C (p.Met1297Leu)
c.3922A>C (p.Met1308Leu)
3g.38560341T=CA1358565736SCN5Ac.4048A= (p.Met1350=)
c.4051A= (p.Met1351=)
c.3889A= (p.Met1297=)
c.3922A= (p.Met1308=)
3g.38560342G>ACA433332461SCN5Ac.4047C>T (p.Ile1349=)
c.4050C>T (p.Ile1350=)
c.3888C>T (p.Ile1296=)
c.3921C>T (p.Ile1307=)
 ClinVar dbSNP COSMIC COSMIC COSMIC
3g.38560342G>CCA352147290SCN5Ac.4047C>G (p.Ile1349Met)
c.4050C>G (p.Ile1350Met)
c.3888C>G (p.Ile1296Met)
c.3921C>G (p.Ile1307Met)
3g.38560342G=CA1358565737SCN5Ac.4047C= (p.Ile1349=)
c.4050C= (p.Ile1350=)
c.3888C= (p.Ile1296=)
c.3921C= (p.Ile1307=)
3g.38560342G>TCA433332462SCN5Ac.4047C>A (p.Ile1349=)
c.4050C>A (p.Ile1350=)
c.3888C>A (p.Ile1296=)
c.3921C>A (p.Ile1307=)
3g.38560343A=CA1358565738SCN5Ac.4046T= (p.Ile1349=)
c.4049T= (p.Ile1350=)
c.3887T= (p.Ile1296=)
c.3920T= (p.Ile1307=)
3g.38560343A>CCA352147293SCN5Ac.4046T>G (p.Ile1349Ser)
c.4049T>G (p.Ile1350Ser)
c.3887T>G (p.Ile1296Ser)
c.3920T>G (p.Ile1307Ser)
3g.38560343A>GCA017817SCN5Ac.4046T>C (p.Ile1349Thr)
c.4049T>C (p.Ile1350Thr)
c.3887T>C (p.Ile1296Thr)
c.3920T>C (p.Ile1307Thr)
 ClinVar dbSNP gnomAD v4
3g.38560343A>TCA352147294SCN5Ac.4046T>A (p.Ile1349Asn)
c.4049T>A (p.Ile1350Asn)
c.3887T>A (p.Ile1296Asn)
c.3920T>A (p.Ile1307Asn)
3g.38560344T>ACA352147296SCN5Ac.4045A>T (p.Ile1349Phe)
c.4048A>T (p.Ile1350Phe)
c.3886A>T (p.Ile1296Phe)
c.3919A>T (p.Ile1307Phe)
 ClinVar dbSNP
3g.38560344T>CCA352147298SCN5Ac.4045A>G (p.Ile1349Val)
c.4048A>G (p.Ile1350Val)
c.3886A>G (p.Ile1296Val)
c.3919A>G (p.Ile1307Val)
3g.38560344T>GCA062762SCN5Ac.4045A>C (p.Ile1349Leu)
c.4048A>C (p.Ile1350Leu)
c.3886A>C (p.Ile1296Leu)
c.3919A>C (p.Ile1307Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38560344T=CA1358565739SCN5Ac.4045A= (p.Ile1349=)
c.4048A= (p.Ile1350=)
c.3886A= (p.Ile1296=)
c.3919A= (p.Ile1307=)
3g.38560345G>ACA433332466SCN5Ac.4044C>T (p.Ser1348=)
c.4047C>T (p.Ser1349=)
c.3885C>T (p.Ser1295=)
c.3918C>T (p.Ser1306=)
 ClinVar dbSNP gnomAD v4
3g.38560345G>CCA352147301SCN5Ac.4044C>G (p.Ser1348Arg)
c.4047C>G (p.Ser1349Arg)
c.3885C>G (p.Ser1295Arg)
c.3918C>G (p.Ser1306Arg)
3g.38560345G=CA1358565740SCN5Ac.4044C= (p.Ser1348=)
c.4047C= (p.Ser1349=)
c.3885C= (p.Ser1295=)
c.3918C= (p.Ser1306=)
3g.38560345G>TCA352147303SCN5Ac.4044C>A (p.Ser1348Arg)
c.4047C>A (p.Ser1349Arg)
c.3885C>A (p.Ser1295Arg)
c.3918C>A (p.Ser1306Arg)
3g.38560346C>ACA352147313SCN5Ac.4043G>T (p.Ser1348Ile)
c.4046G>T (p.Ser1349Ile)
c.3884G>T (p.Ser1295Ile)
c.3917G>T (p.Ser1306Ile)
3g.38560346C>GCA352147314SCN5Ac.4043G>C (p.Ser1348Thr)
c.4046G>C (p.Ser1349Thr)
c.3884G>C (p.Ser1295Thr)
c.3917G>C (p.Ser1306Thr)
3g.38560346C>TCA352147316SCN5Ac.4043G>A (p.Ser1348Asn)
c.4046G>A (p.Ser1349Asn)
c.3884G>A (p.Ser1295Asn)
c.3917G>A (p.Ser1306Asn)
 gnomAD v4
3g.38560346_38560358delinsACA2739278200SCN5Ac.4031_4043delinsT (p.Trp1344_Ser1348delinsPhe)
c.4034_4046delinsT (p.Trp1345_Ser1349delinsPhe)
c.3872_3884delinsT (p.Trp1291_Ser1295delinsPhe)
c.3905_3917delinsT (p.Trp1302_Ser1306delinsPhe)
 ClinVar
3g.38560347_38560358delCA2573136263SCN5Ac.4032_4043del (p.Trp1344_Ser1348delinsCys)
c.4035_4046del (p.Trp1345_Ser1349delinsCys)
c.3873_3884del (p.Trp1291_Ser1295delinsCys)
c.3906_3917del (p.Trp1302_Ser1306delinsCys)
 dbSNP
3g.38560347T>ACA352147324SCN5Ac.4042A>T (p.Ser1348Cys)
c.4045A>T (p.Ser1349Cys)
c.3883A>T (p.Ser1295Cys)
c.3916A>T (p.Ser1306Cys)
3g.38560347T>CCA352147321SCN5Ac.4042A>G (p.Ser1348Gly)
c.4045A>G (p.Ser1349Gly)
c.3883A>G (p.Ser1295Gly)
c.3916A>G (p.Ser1306Gly)
3g.38560347T>GCA352147319SCN5Ac.4042A>C (p.Ser1348Arg)
c.4045A>C (p.Ser1349Arg)
c.3883A>C (p.Ser1295Arg)
c.3916A>C (p.Ser1306Arg)
3g.38560348G>ACA062758SCN5Ac.4041C>T (p.Phe1347=)
c.4044C>T (p.Phe1348=)
c.3882C>T (p.Phe1294=)
c.3915C>T (p.Phe1305=)
 dbSNP ExAC gnomAD v2
3g.38560348G>CCA352147328SCN5Ac.4041C>G (p.Phe1347Leu)
c.4044C>G (p.Phe1348Leu)
c.3882C>G (p.Phe1294Leu)
c.3915C>G (p.Phe1305Leu)
3g.38560348G=CA1358565741SCN5Ac.4041C= (p.Phe1347=)
c.4044C= (p.Phe1348=)
c.3882C= (p.Phe1294=)
c.3915C= (p.Phe1305=)
3g.38560348G>TCA352147332SCN5Ac.4041C>A (p.Phe1347Leu)
c.4044C>A (p.Phe1348Leu)
c.3882C>A (p.Phe1294Leu)
c.3915C>A (p.Phe1305Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.38560357_38560368delCA2755901968SCN5Ac.4030_4041del (p.Trp1344_Phe1347del)
c.4033_4044del (p.Trp1345_Phe1348del)
c.3871_3882del (p.Trp1291_Phe1294del)
c.3904_3915del (p.Trp1302_Phe1305del)
3g.38560349A>CCA352147335SCN5Ac.4040T>G (p.Phe1347Cys)
c.4043T>G (p.Phe1348Cys)
c.3881T>G (p.Phe1294Cys)
c.3914T>G (p.Phe1305Cys)
3g.38560349A>GCA352147337SCN5Ac.4040T>C (p.Phe1347Ser)
c.4043T>C (p.Phe1348Ser)
c.3881T>C (p.Phe1294Ser)
c.3914T>C (p.Phe1305Ser)
3g.38560349A>TCA352147340SCN5Ac.4040T>A (p.Phe1347Tyr)
c.4043T>A (p.Phe1348Tyr)
c.3881T>A (p.Phe1294Tyr)
c.3914T>A (p.Phe1305Tyr)
3g.38560350A>CCA352147343SCN5Ac.4039T>G (p.Phe1347Val)
c.4042T>G (p.Phe1348Val)
c.3880T>G (p.Phe1294Val)
c.3913T>G (p.Phe1305Val)
3g.38560350A>GCA352147345SCN5Ac.4039T>C (p.Phe1347Leu)
c.4042T>C (p.Phe1348Leu)
c.3880T>C (p.Phe1294Leu)
c.3913T>C (p.Phe1305Leu)
3g.38560350A>TCA352147353SCN5Ac.4039T>A (p.Phe1347Ile)
c.4042T>A (p.Phe1348Ile)
c.3880T>A (p.Phe1294Ile)
c.3913T>A (p.Phe1305Ile)
3g.38560351G>ACA433332468SCN5Ac.4038C>T (p.Ile1346=)
c.4041C>T (p.Ile1347=)
c.3879C>T (p.Ile1293=)
c.3912C>T (p.Ile1304=)
3g.38560351G>CCA352147356SCN5Ac.4038C>G (p.Ile1346Met)
c.4041C>G (p.Ile1347Met)
c.3879C>G (p.Ile1293Met)
c.3912C>G (p.Ile1304Met)
3g.38560351G>TCA433332467SCN5Ac.4038C>A (p.Ile1346=)
c.4041C>A (p.Ile1347=)
c.3879C>A (p.Ile1293=)
c.3912C>A (p.Ile1304=)
3g.38560352A>CCA352147357SCN5Ac.4037T>G (p.Ile1346Ser)
c.4040T>G (p.Ile1347Ser)
c.3878T>G (p.Ile1293Ser)
c.3911T>G (p.Ile1304Ser)
3g.38560352A>GCA352147360SCN5Ac.4037T>C (p.Ile1346Thr)
c.4040T>C (p.Ile1347Thr)
c.3878T>C (p.Ile1293Thr)
c.3911T>C (p.Ile1304Thr)
 ClinVar
3g.38560352A>TCA352147362SCN5Ac.4037T>A (p.Ile1346Asn)
c.4040T>A (p.Ile1347Asn)
c.3878T>A (p.Ile1293Asn)
c.3911T>A (p.Ile1304Asn)
3g.38560353T>ACA352147366SCN5Ac.4036A>T (p.Ile1346Phe)
c.4039A>T (p.Ile1347Phe)
c.3877A>T (p.Ile1293Phe)
c.3910A>T (p.Ile1304Phe)
3g.38560353T>CCA352147369SCN5Ac.4036A>G (p.Ile1346Val)
c.4039A>G (p.Ile1347Val)
c.3877A>G (p.Ile1293Val)
c.3910A>G (p.Ile1304Val)
3g.38560353T>GCA352147364SCN5Ac.4036A>C (p.Ile1346Leu)
c.4039A>C (p.Ile1347Leu)
c.3877A>C (p.Ile1293Leu)
c.3910A>C (p.Ile1304Leu)
3g.38560354G>ACA433332471SCN5Ac.4035C>T (p.Leu1345=)
c.4038C>T (p.Leu1346=)
c.3876C>T (p.Leu1292=)
c.3909C>T (p.Leu1303=)
3g.38560354G>CCA433332470SCN5Ac.4035C>G (p.Leu1345=)
c.4038C>G (p.Leu1346=)
c.3876C>G (p.Leu1292=)
c.3909C>G (p.Leu1303=)
3g.38560354G>TCA433332469SCN5Ac.4035C>A (p.Leu1345=)
c.4038C>A (p.Leu1346=)
c.3876C>A (p.Leu1292=)
c.3909C>A (p.Leu1303=)
3g.38560355_38560356delCA2586965782SCN5Ac.4034_4035del (p.Leu1345HisfsTer?)
c.4037_4038del (p.Leu1346HisfsTer?)
c.3875_3876del (p.Leu1292HisfsTer?)
c.3908_3909del (p.Leu1303HisfsTer?)
3g.38560355A=CA1358565742SCN5Ac.4034T= (p.Leu1345=)
c.4037T= (p.Leu1346=)
c.3875T= (p.Leu1292=)
c.3908T= (p.Leu1303=)
3g.38560355A>CCA352147370SCN5Ac.4034T>G (p.Leu1345Arg)
c.4037T>G (p.Leu1346Arg)
c.3875T>G (p.Leu1292Arg)
c.3908T>G (p.Leu1303Arg)
3g.38560355A>GCA017808SCN5Ac.4034T>C (p.Leu1345Pro)
c.4037T>C (p.Leu1346Pro)
c.3875T>C (p.Leu1292Pro)
c.3908T>C (p.Leu1303Pro)
 ClinVar dbSNP
3g.38560355A>TCA352147373SCN5Ac.4034T>A (p.Leu1345His)
c.4037T>A (p.Leu1346His)
c.3875T>A (p.Leu1292His)
c.3908T>A (p.Leu1303His)
3g.38560356G>ACA352147374SCN5Ac.4033C>T (p.Leu1345Phe)
c.4036C>T (p.Leu1346Phe)
c.3874C>T (p.Leu1292Phe)
c.3907C>T (p.Leu1303Phe)
3g.38560356G>CCA352147375SCN5Ac.4033C>G (p.Leu1345Val)
c.4036C>G (p.Leu1346Val)
c.3874C>G (p.Leu1292Val)
c.3907C>G (p.Leu1303Val)
3g.38560356G=CA1358565743SCN5Ac.4033C= (p.Leu1345=)
c.4036C= (p.Leu1346=)
c.3874C= (p.Leu1292=)
c.3907C= (p.Leu1303=)
3g.38560356G>TCA017802SCN5Ac.4033C>A (p.Leu1345Ile)
c.4036C>A (p.Leu1346Ile)
c.3874C>A (p.Leu1292Ile)
c.3907C>A (p.Leu1303Ile)
 ClinVar dbSNP gnomAD v4
3g.38560356_38560357delinsGCCA1358565744SCN5Ac.4032_4033delinsGC (p.Trp1344=)
c.4035_4036delinsGC (p.Trp1345=)
c.3873_3874delinsGC (p.Trp1291=)
c.3906_3907delinsGC (p.Trp1302=)
3g.38560357C>ACA017796SCN5Ac.4032G>T (p.Trp1344Cys)
c.4035G>T (p.Trp1345Cys)
c.3873G>T (p.Trp1291Cys)
c.3906G>T (p.Trp1302Cys)
 ClinVar dbSNP COSMIC COSMIC COSMIC
3g.38560357C=CA1358565745SCN5Ac.4032G= (p.Trp1344=)
c.4035G= (p.Trp1345=)
c.3873G= (p.Trp1291=)
c.3906G= (p.Trp1302=)
3g.38560357C>GCA352147380SCN5Ac.4032G>C (p.Trp1344Cys)
c.4035G>C (p.Trp1345Cys)
c.3873G>C (p.Trp1291Cys)
c.3906G>C (p.Trp1302Cys)
3g.38560357C>TCA017787SCN5Ac.4032G>A (p.Trp1344Ter)
c.4035G>A (p.Trp1345Ter)
c.3873G>A (p.Trp1291Ter)
c.3906G>A (p.Trp1302Ter)
 ClinVar dbSNP gnomAD v4
3g.38560358delCA906900360SCN5Ac.4032del (p.Trp1344CysfsTer9)
c.4035del (p.Trp1345CysfsTer9)
c.3873del (p.Trp1291CysfsTer9)
c.3906del (p.Trp1302CysfsTer9)
 dbSNP
3g.38560358C>ACA352147387SCN5Ac.4031G>T (p.Trp1344Leu)
c.4034G>T (p.Trp1345Leu)
c.3872G>T (p.Trp1291Leu)
c.3905G>T (p.Trp1302Leu)
3g.38560358C>GCA352147389SCN5Ac.4031G>C (p.Trp1344Ser)
c.4034G>C (p.Trp1345Ser)
c.3872G>C (p.Trp1291Ser)
c.3905G>C (p.Trp1302Ser)
3g.38560358C>TCA352147392SCN5Ac.4031G>A (p.Trp1344Ter)
c.4034G>A (p.Trp1345Ter)
c.3872G>A (p.Trp1291Ter)
c.3905G>A (p.Trp1302Ter)
3g.38560359A>CCA352147394SCN5Ac.4030T>G (p.Trp1344Gly)
c.4033T>G (p.Trp1345Gly)
c.3871T>G (p.Trp1291Gly)
c.3904T>G (p.Trp1302Gly)
3g.38560359A>GCA352147396SCN5Ac.4030T>C (p.Trp1344Arg)
c.4033T>C (p.Trp1345Arg)
c.3871T>C (p.Trp1291Arg)
c.3904T>C (p.Trp1302Arg)
3g.38560359A>TCA352147401SCN5Ac.4030T>A (p.Trp1344Arg)
c.4033T>A (p.Trp1345Arg)
c.3871T>A (p.Trp1291Arg)
c.3904T>A (p.Trp1302Arg)
3g.38560360G>ACA433332472SCN5Ac.4029C>T (p.Phe1343=)
c.4032C>T (p.Phe1344=)
c.3870C>T (p.Phe1290=)
c.3903C>T (p.Phe1301=)
3g.38560360G>CCA352147403SCN5Ac.4029C>G (p.Phe1343Leu)
c.4032C>G (p.Phe1344Leu)
c.3870C>G (p.Phe1290Leu)
c.3903C>G (p.Phe1301Leu)
 gnomAD v4
3g.38560360G>TCA352147404SCN5Ac.4029C>A (p.Phe1343Leu)
c.4032C>A (p.Phe1344Leu)
c.3870C>A (p.Phe1290Leu)
c.3903C>A (p.Phe1301Leu)
3g.38560361A=CA1358565746SCN5Ac.4028T= (p.Phe1343=)
c.4031T= (p.Phe1344=)
c.3869T= (p.Phe1290=)
c.3902T= (p.Phe1301=)
3g.38560361A>CCA352147407SCN5Ac.4028T>G (p.Phe1343Cys)
c.4031T>G (p.Phe1344Cys)
c.3869T>G (p.Phe1290Cys)
c.3902T>G (p.Phe1301Cys)
3g.38560361A>GCA017779SCN5Ac.4028T>C (p.Phe1343Ser)
c.4031T>C (p.Phe1344Ser)
c.3869T>C (p.Phe1290Ser)
c.3902T>C (p.Phe1301Ser)
 ClinVar dbSNP
3g.38560361A>TCA352147410SCN5Ac.4028T>A (p.Phe1343Tyr)
c.4031T>A (p.Phe1344Tyr)
c.3869T>A (p.Phe1290Tyr)
c.3902T>A (p.Phe1301Tyr)
3g.38560362A=CA1358565747SCN5Ac.4027T= (p.Phe1343=)
c.4030T= (p.Phe1344=)
c.3868T= (p.Phe1290=)
c.3901T= (p.Phe1301=)
3g.38560362A>CCA352147412SCN5Ac.4027T>G (p.Phe1343Val)
c.4030T>G (p.Phe1344Val)
c.3868T>G (p.Phe1290Val)
c.3901T>G (p.Phe1301Val)
3g.38560362A>GCA017772SCN5Ac.4027T>C (p.Phe1343Leu)
c.4030T>C (p.Phe1344Leu)
c.3868T>C (p.Phe1290Leu)
c.3901T>C (p.Phe1301Leu)
 ClinVar dbSNP
3g.38560362A>TCA352147414SCN5Ac.4027T>A (p.Phe1343Ile)
c.4030T>A (p.Phe1344Ile)
c.3868T>A (p.Phe1290Ile)
c.3901T>A (p.Phe1301Ile)
 gnomAD v4
3g.38560363G>ACA433332473SCN5Ac.4026C>T (p.Ile1342=)
c.4029C>T (p.Ile1343=)
c.3867C>T (p.Ile1289=)
c.3900C>T (p.Ile1300=)
3g.38560363G>CCA352147416SCN5Ac.4026C>G (p.Ile1342Met)
c.4029C>G (p.Ile1343Met)
c.3867C>G (p.Ile1289Met)
c.3900C>G (p.Ile1300Met)
3g.38560363G>TCA433332474SCN5Ac.4026C>A (p.Ile1342=)
c.4029C>A (p.Ile1343=)
c.3867C>A (p.Ile1289=)
c.3900C>A (p.Ile1300=)
 ClinVar
3g.38560364A>CCA352147418SCN5Ac.4025T>G (p.Ile1342Ser)
c.4028T>G (p.Ile1343Ser)
c.3866T>G (p.Ile1289Ser)
c.3899T>G (p.Ile1300Ser)
3g.38560364A>GCA352147421SCN5Ac.4025T>C (p.Ile1342Thr)
c.4028T>C (p.Ile1343Thr)
c.3866T>C (p.Ile1289Thr)
c.3899T>C (p.Ile1300Thr)
3g.38560364A>TCA352147423SCN5Ac.4025T>A (p.Ile1342Asn)
c.4028T>A (p.Ile1343Asn)
c.3866T>A (p.Ile1289Asn)
c.3899T>A (p.Ile1300Asn)
3g.38560365T>ACA352147427SCN5Ac.4024A>T (p.Ile1342Phe)
c.4027A>T (p.Ile1343Phe)
c.3865A>T (p.Ile1289Phe)
c.3898A>T (p.Ile1300Phe)
3g.38560365T>CCA352147425SCN5Ac.4024A>G (p.Ile1342Val)
c.4027A>G (p.Ile1343Val)
c.3865A>G (p.Ile1289Val)
c.3898A>G (p.Ile1300Val)
3g.38560365T>GCA352147424SCN5Ac.4024A>C (p.Ile1342Leu)
c.4027A>C (p.Ile1343Leu)
c.3865A>C (p.Ile1289Leu)
c.3898A>C (p.Ile1300Leu)
3g.38560366G>ACA433332475SCN5Ac.4023C>T (p.Leu1341=)
c.4026C>T (p.Leu1342=)
c.3864C>T (p.Leu1288=)
c.3897C>T (p.Leu1299=)
 gnomAD v4
3g.38560366G>CCA433332476SCN5Ac.4023C>G (p.Leu1341=)
c.4026C>G (p.Leu1342=)
c.3864C>G (p.Leu1288=)
c.3897C>G (p.Leu1299=)
3g.38560366G>TCA433332477SCN5Ac.4023C>A (p.Leu1341=)
c.4026C>A (p.Leu1342=)
c.3864C>A (p.Leu1288=)
c.3897C>A (p.Leu1299=)
3g.38560367A>CCA352147429SCN5Ac.4022T>G (p.Leu1341Arg)
c.4025T>G (p.Leu1342Arg)
c.3863T>G (p.Leu1288Arg)
c.3896T>G (p.Leu1299Arg)
3g.38560367A>GCA352147431SCN5Ac.4022T>C (p.Leu1341Pro)
c.4025T>C (p.Leu1342Pro)
c.3863T>C (p.Leu1288Pro)
c.3896T>C (p.Leu1299Pro)
3g.38560367A>TCA352147432SCN5Ac.4022T>A (p.Leu1341His)
c.4025T>A (p.Leu1342His)
c.3863T>A (p.Leu1288His)
c.3896T>A (p.Leu1299His)
3g.38560368G>ACA16611264SCN5Ac.4021C>T (p.Leu1341Phe)
c.4024C>T (p.Leu1342Phe)
c.3862C>T (p.Leu1288Phe)
c.3895C>T (p.Leu1299Phe)
 ClinVar dbSNP
3g.38560368G>CCA352147435SCN5Ac.4021C>G (p.Leu1341Val)
c.4024C>G (p.Leu1342Val)
c.3862C>G (p.Leu1288Val)
c.3895C>G (p.Leu1299Val)
 ClinVar dbSNP gnomAD v4
3g.38560368G=CA1358565748SCN5Ac.4021C= (p.Leu1341=)
c.4024C= (p.Leu1342=)
c.3862C= (p.Leu1288=)
c.3895C= (p.Leu1299=)
3g.38560368G>TCA352147438SCN5Ac.4021C>A (p.Leu1341Ile)
c.4024C>A (p.Leu1342Ile)
c.3862C>A (p.Leu1288Ile)
c.3895C>A (p.Leu1299Ile)
3g.38560369G>ACA433332478SCN5Ac.4020C>T (p.Cys1340=)
c.4023C>T (p.Cys1341=)
c.3861C>T (p.Cys1287=)
c.3894C>T (p.Cys1298=)
3g.38560369G>CCA352147439SCN5Ac.4020C>G (p.Cys1340Trp)
c.4023C>G (p.Cys1341Trp)
c.3861C>G (p.Cys1287Trp)
c.3894C>G (p.Cys1298Trp)
3g.38560369G=CA1358565749SCN5Ac.4020C= (p.Cys1340=)
c.4023C= (p.Cys1341=)
c.3861C= (p.Cys1287=)
c.3894C= (p.Cys1298=)
3g.38560369G>TCA352147440SCN5Ac.4020C>A (p.Cys1340Ter)
c.4023C>A (p.Cys1341Ter)
c.3861C>A (p.Cys1287Ter)
c.3894C>A (p.Cys1298Ter)
 dbSNP
3g.38560370C>ACA352147442SCN5Ac.4019G>T (p.Cys1340Phe)
c.4022G>T (p.Cys1341Phe)
c.3860G>T (p.Cys1287Phe)
c.3893G>T (p.Cys1298Phe)
3g.38560370C>GCA352147443SCN5Ac.4019G>C (p.Cys1340Ser)
c.4022G>C (p.Cys1341Ser)
c.3860G>C (p.Cys1287Ser)
c.3893G>C (p.Cys1298Ser)
3g.38560370C>TCA352147444SCN5Ac.4019G>A (p.Cys1340Tyr)
c.4022G>A (p.Cys1341Tyr)
c.3860G>A (p.Cys1287Tyr)
c.3893G>A (p.Cys1298Tyr)
3g.38560371A>CCA352147449SCN5Ac.4018T>G (p.Cys1340Gly)
c.4021T>G (p.Cys1341Gly)
c.3859T>G (p.Cys1287Gly)
c.3892T>G (p.Cys1298Gly)
3g.38560371A>GCA352147447SCN5Ac.4018T>C (p.Cys1340Arg)
c.4021T>C (p.Cys1341Arg)
c.3859T>C (p.Cys1287Arg)
c.3892T>C (p.Cys1298Arg)
 ClinVar dbSNP
3g.38560371A>TCA352147446SCN5Ac.4018T>A (p.Cys1340Ser)
c.4021T>A (p.Cys1341Ser)
c.3859T>A (p.Cys1287Ser)
c.3892T>A (p.Cys1298Ser)
3g.38560372G>ACA433332480SCN5Ac.4017C>T (p.Val1339=)
c.4020C>T (p.Val1340=)
c.3858C>T (p.Val1286=)
c.3891C>T (p.Val1297=)
3g.38560372G>CCA433332481SCN5Ac.4017C>G (p.Val1339=)
c.4020C>G (p.Val1340=)
c.3858C>G (p.Val1286=)
c.3891C>G (p.Val1297=)
3g.38560372G>TCA433332479SCN5Ac.4017C>A (p.Val1339=)
c.4020C>A (p.Val1340=)
c.3858C>A (p.Val1286=)
c.3891C>A (p.Val1297=)
3g.38560373A>CCA352147451SCN5Ac.4016T>G (p.Val1339Gly)
c.4019T>G (p.Val1340Gly)
c.3857T>G (p.Val1286Gly)
c.3890T>G (p.Val1297Gly)
3g.38560373A>GCA352147453SCN5Ac.4016T>C (p.Val1339Ala)
c.4019T>C (p.Val1340Ala)
c.3857T>C (p.Val1286Ala)
c.3890T>C (p.Val1297Ala)
3g.38560373A>TCA352147455SCN5Ac.4016T>A (p.Val1339Asp)
c.4019T>A (p.Val1340Asp)
c.3857T>A (p.Val1286Asp)
c.3890T>A (p.Val1297Asp)
3g.38560374C>ACA352147457SCN5Ac.4015G>T (p.Val1339Phe)
c.4018G>T (p.Val1340Phe)
c.3856G>T (p.Val1286Phe)
c.3889G>T (p.Val1297Phe)
3g.38560374C=CA1358565751SCN5Ac.4015G= (p.Val1339=)
c.4018G= (p.Val1340=)
c.3856G= (p.Val1286=)
c.3889G= (p.Val1297=)
3g.38560374C>GCA10587574SCN5Ac.4015G>C (p.Val1339Leu)
c.4018G>C (p.Val1340Leu)
c.3856G>C (p.Val1286Leu)
c.3889G>C (p.Val1297Leu)
 ClinVar dbSNP gnomAD v4
3g.38560374C>TCA017761SCN5Ac.4015G>A (p.Val1339Ile)
c.4018G>A (p.Val1340Ile)
c.3856G>A (p.Val1286Ile)
c.3889G>A (p.Val1297Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38560374_38560377delinsCGAGCA1358565750SCN5Ac.4012_4015delinsCTCG (p.Leu1338=)
c.4015_4018delinsCTCG (p.Leu1339=)
c.3853_3856delinsCTCG (p.Leu1285=)
c.3886_3889delinsCTCG (p.Leu1296=)
3g.38560375G>ACA72944906SCN5Ac.4014C>T (p.Leu1338=)
c.4017C>T (p.Leu1339=)
c.3855C>T (p.Leu1285=)
c.3888C>T (p.Leu1296=)
 ClinVar dbSNP gnomAD v4
3g.38560375G>CCA433332482SCN5Ac.4014C>G (p.Leu1338=)
c.4017C>G (p.Leu1339=)
c.3855C>G (p.Leu1285=)
c.3888C>G (p.Leu1296=)
3g.38560375G=CA1358565752SCN5Ac.4014C= (p.Leu1338=)
c.4017C= (p.Leu1339=)
c.3855C= (p.Leu1285=)
c.3888C= (p.Leu1296=)
3g.38560375G>TCA433332483SCN5Ac.4014C>A (p.Leu1338=)
c.4017C>A (p.Leu1339=)
c.3855C>A (p.Leu1285=)
c.3888C>A (p.Leu1296=)
3g.38560380_38560382delCA542615541SCN5Ac.4012_4014del (p.Leu1338del)
c.4015_4017del (p.Leu1339del)
c.3853_3855del (p.Leu1285del)
c.3886_3888del (p.Leu1296del)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38560376A>CCA352147465SCN5Ac.4013T>G (p.Leu1338Arg)
c.4016T>G (p.Leu1339Arg)
c.3854T>G (p.Leu1285Arg)
c.3887T>G (p.Leu1296Arg)
3g.38560376A>GCA352147468SCN5Ac.4013T>C (p.Leu1338Pro)
c.4016T>C (p.Leu1339Pro)
c.3854T>C (p.Leu1285Pro)
c.3887T>C (p.Leu1296Pro)
3g.38560376A>TCA352147470SCN5Ac.4013T>A (p.Leu1338His)
c.4016T>A (p.Leu1339His)
c.3854T>A (p.Leu1285His)
c.3887T>A (p.Leu1296His)
3g.38560377G>ACA352147474SCN5Ac.4012C>T (p.Leu1338Phe)
c.4015C>T (p.Leu1339Phe)
c.3853C>T (p.Leu1285Phe)
c.3886C>T (p.Leu1296Phe)
 dbSNP gnomAD v2 gnomAD v4
3g.38560377G>CCA352147475SCN5Ac.4012C>G (p.Leu1338Val)
c.4015C>G (p.Leu1339Val)
c.3853C>G (p.Leu1285Val)
c.3886C>G (p.Leu1296Val)
3g.38560377G=CA1358565753SCN5Ac.4012C= (p.Leu1338=)
c.4015C= (p.Leu1339=)
c.3853C= (p.Leu1285=)
c.3886C= (p.Leu1296=)
3g.38560377G>TCA352147478SCN5Ac.4012C>A (p.Leu1338Ile)
c.4015C>A (p.Leu1339Ile)
c.3853C>A (p.Leu1285Ile)
c.3886C>A (p.Leu1296Ile)
3g.38560378G>ACA433332484SCN5Ac.4011C>T (p.Leu1337=)
c.4014C>T (p.Leu1338=)
c.3852C>T (p.Leu1284=)
c.3885C>T (p.Leu1295=)
3g.38560378G>CCA433332485SCN5Ac.4011C>G (p.Leu1337=)
c.4014C>G (p.Leu1338=)
c.3852C>G (p.Leu1284=)
c.3885C>G (p.Leu1295=)
 gnomAD v4
3g.38560378G>TCA433332486SCN5Ac.4011C>A (p.Leu1337=)
c.4014C>A (p.Leu1338=)
c.3852C>A (p.Leu1284=)
c.3885C>A (p.Leu1295=)
3g.38560379A>CCA352147482SCN5Ac.4010T>G (p.Leu1337Arg)
c.4013T>G (p.Leu1338Arg)
c.3851T>G (p.Leu1284Arg)
c.3884T>G (p.Leu1295Arg)
3g.38560379A>GCA352147484SCN5Ac.4010T>C (p.Leu1337Pro)
c.4013T>C (p.Leu1338Pro)
c.3851T>C (p.Leu1284Pro)
c.3884T>C (p.Leu1295Pro)
3g.38560379A>TCA352147480SCN5Ac.4010T>A (p.Leu1337His)
c.4013T>A (p.Leu1338His)
c.3851T>A (p.Leu1284His)
c.3884T>A (p.Leu1295His)
3g.38560380G>ACA352147488SCN5Ac.4009C>T (p.Leu1337Phe)
c.4012C>T (p.Leu1338Phe)
c.3850C>T (p.Leu1284Phe)
c.3883C>T (p.Leu1295Phe)
 gnomAD v4
3g.38560380G>CCA017753SCN5Ac.4009C>G (p.Leu1337Val)
c.4012C>G (p.Leu1338Val)
c.3850C>G (p.Leu1284Val)
c.3883C>G (p.Leu1295Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38560380G=CA1358565754SCN5Ac.4009C= (p.Leu1337=)
c.4012C= (p.Leu1338=)
c.3850C= (p.Leu1284=)
c.3883C= (p.Leu1295=)
3g.38560380G>TCA352147487SCN5Ac.4009C>A (p.Leu1337Ile)
c.4012C>A (p.Leu1338Ile)
c.3850C>A (p.Leu1284Ile)
c.3883C>A (p.Leu1295Ile)
 COSMIC
3g.38560381G>ACA433332487SCN5Ac.4008C>T (p.Val1336=)
c.4011C>T (p.Val1337=)
c.3849C>T (p.Val1283=)
c.3882C>T (p.Val1294=)
 gnomAD v4
3g.38560381G>CCA433332488SCN5Ac.4008C>G (p.Val1336=)
c.4011C>G (p.Val1337=)
c.3849C>G (p.Val1283=)
c.3882C>G (p.Val1294=)
 gnomAD v4
3g.38560381G>TCA433332489SCN5Ac.4008C>A (p.Val1336=)
c.4011C>A (p.Val1337=)
c.3849C>A (p.Val1283=)
c.3882C>A (p.Val1294=)
3g.38560382A>CCA352147490SCN5Ac.4007T>G (p.Val1336Gly)
c.4010T>G (p.Val1337Gly)
c.3848T>G (p.Val1283Gly)
c.3881T>G (p.Val1294Gly)
3g.38560382A>GCA352147492SCN5Ac.4007T>C (p.Val1336Ala)
c.4010T>C (p.Val1337Ala)
c.3848T>C (p.Val1283Ala)
c.3881T>C (p.Val1294Ala)
3g.38560382A>TCA352147494SCN5Ac.4007T>A (p.Val1336Asp)
c.4010T>A (p.Val1337Asp)
c.3848T>A (p.Val1283Asp)
c.3881T>A (p.Val1294Asp)
3g.38560383C>ACA352147501SCN5Ac.4006G>T (p.Val1336Phe)
c.4009G>T (p.Val1337Phe)
c.3847G>T (p.Val1283Phe)
c.3880G>T (p.Val1294Phe)
3g.38560383C=CA1358565755SCN5Ac.4006G= (p.Val1336=)
c.4009G= (p.Val1337=)
c.3847G= (p.Val1283=)
c.3880G= (p.Val1294=)
3g.38560383C>GCA352147498SCN5Ac.4006G>C (p.Val1336Leu)
c.4009G>C (p.Val1337Leu)
c.3847G>C (p.Val1283Leu)
c.3880G>C (p.Val1294Leu)
3g.38560383C>TCA352147496SCN5Ac.4006G>A (p.Val1336Ile)
c.4009G>A (p.Val1337Ile)
c.3847G>A (p.Val1283Ile)
c.3880G>A (p.Val1294Ile)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
3g.38560384G>ACA062720SCN5Ac.4005C>T (p.Asn1335=)
c.4008C>T (p.Asn1336=)
c.3846C>T (p.Asn1282=)
c.3879C>T (p.Asn1293=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38560384G>CCA352147504SCN5Ac.4005C>G (p.Asn1335Lys)
c.4008C>G (p.Asn1336Lys)
c.3846C>G (p.Asn1282Lys)
c.3879C>G (p.Asn1293Lys)
 dbSNP gnomAD v3 gnomAD v4
3g.38560384G=CA1358565756SCN5Ac.4005C= (p.Asn1335=)
c.4008C= (p.Asn1336=)
c.3846C= (p.Asn1282=)
c.3879C= (p.Asn1293=)
3g.38560384G>TCA352147506SCN5Ac.4005C>A (p.Asn1335Lys)
c.4008C>A (p.Asn1336Lys)
c.3846C>A (p.Asn1282Lys)
c.3879C>A (p.Asn1293Lys)
3g.38560385T>ACA352147508SCN5Ac.4004A>T (p.Asn1335Ile)
c.4007A>T (p.Asn1336Ile)
c.3845A>T (p.Asn1282Ile)
c.3878A>T (p.Asn1293Ile)
3g.38560385T>CCA352147510SCN5Ac.4004A>G (p.Asn1335Ser)
c.4007A>G (p.Asn1336Ser)
c.3845A>G (p.Asn1282Ser)
c.3878A>G (p.Asn1293Ser)
3g.38560385T>GCA352147512SCN5Ac.4004A>C (p.Asn1335Thr)
c.4007A>C (p.Asn1336Thr)
c.3845A>C (p.Asn1282Thr)
c.3878A>C (p.Asn1293Thr)
3g.38560386T>ACA352147519SCN5Ac.4003A>T (p.Asn1335Tyr)
c.4006A>T (p.Asn1336Tyr)
c.3844A>T (p.Asn1282Tyr)
c.3877A>T (p.Asn1293Tyr)
3g.38560386T>CCA352147513SCN5Ac.4003A>G (p.Asn1335Asp)
c.4006A>G (p.Asn1336Asp)
c.3844A>G (p.Asn1282Asp)
c.3877A>G (p.Asn1293Asp)
3g.38560386T>GCA352147515SCN5Ac.4003A>C (p.Asn1335His)
c.4006A>C (p.Asn1336His)
c.3844A>C (p.Asn1282His)
c.3877A>C (p.Asn1293His)
3g.38560387C>ACA352147521SCN5Ac.4002G>T (p.Met1334Ile)
c.4005G>T (p.Met1335Ile)
c.3843G>T (p.Met1281Ile)
c.3876G>T (p.Met1292Ile)
3g.38560387C>GCA352147522SCN5Ac.4002G>C (p.Met1334Ile)
c.4005G>C (p.Met1335Ile)
c.3843G>C (p.Met1281Ile)
c.3876G>C (p.Met1292Ile)
3g.38560387C>TCA352147524SCN5Ac.4002G>A (p.Met1334Ile)
c.4005G>A (p.Met1335Ile)
c.3843G>A (p.Met1281Ile)
c.3876G>A (p.Met1292Ile)
 COSMIC COSMIC COSMIC
3g.38560388A=CA1358565757SCN5Ac.4001T= (p.Met1334=)
c.4004T= (p.Met1335=)
c.3842T= (p.Met1281=)
c.3875T= (p.Met1292=)
3g.38560388A>CCA352147527SCN5Ac.4001T>G (p.Met1334Arg)
c.4004T>G (p.Met1335Arg)
c.3842T>G (p.Met1281Arg)
c.3875T>G (p.Met1292Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38560388A>GCA352147529SCN5Ac.4001T>C (p.Met1334Thr)
c.4004T>C (p.Met1335Thr)
c.3842T>C (p.Met1281Thr)
c.3875T>C (p.Met1292Thr)
3g.38560388A>TCA352147530SCN5Ac.4001T>A (p.Met1334Lys)
c.4004T>A (p.Met1335Lys)
c.3842T>A (p.Met1281Lys)
c.3875T>A (p.Met1292Lys)
3g.38560389T>ACA352147532SCN5Ac.4000A>T (p.Met1334Leu)
c.4003A>T (p.Met1335Leu)
c.3841A>T (p.Met1281Leu)
c.3874A>T (p.Met1292Leu)
3g.38560389T>CCA72944913SCN5Ac.4000A>G (p.Met1334Val)
c.4003A>G (p.Met1335Val)
c.3841A>G (p.Met1281Val)
c.3874A>G (p.Met1292Val)
 ClinVar dbSNP gnomAD v4
3g.38560389T>GCA352147534SCN5Ac.4000A>C (p.Met1334Leu)
c.4003A>C (p.Met1335Leu)
c.3841A>C (p.Met1281Leu)
c.3874A>C (p.Met1292Leu)
 gnomAD v4
3g.38560389T=CA1358565758SCN5Ac.4000A= (p.Met1334=)
c.4003A= (p.Met1335=)
c.3841A= (p.Met1281=)
c.3874A= (p.Met1292=)
3g.38560390G>ACA433332405SCN5Ac.3999C>T (p.Ile1333=)
c.4002C>T (p.Ile1334=)
c.3840C>T (p.Ile1280=)
c.3873C>T (p.Ile1291=)
 ClinVar dbSNP
3g.38560390G>CCA352147536SCN5Ac.3999C>G (p.Ile1333Met)
c.4002C>G (p.Ile1334Met)
c.3840C>G (p.Ile1280Met)
c.3873C>G (p.Ile1291Met)
3g.38560390G=CA1358565759SCN5Ac.3999C= (p.Ile1333=)
c.4002C= (p.Ile1334=)
c.3840C= (p.Ile1280=)
c.3873C= (p.Ile1291=)
3g.38560390G>TCA433332407SCN5Ac.3999C>A (p.Ile1333=)
c.4002C>A (p.Ile1334=)
c.3840C>A (p.Ile1280=)
c.3873C>A (p.Ile1291=)
3g.38560390_38560391dupCA2665111488SCN5Ac.3998_3999dup (p.Met1334SerfsTer2)
c.4001_4002dup (p.Met1335SerfsTer2)
c.3839_3840dup (p.Met1281SerfsTer2)
c.3872_3873dup (p.Met1292SerfsTer2)
 gnomAD v4
3g.38560391A>CCA352147540SCN5Ac.3998T>G (p.Ile1333Ser)
c.4001T>G (p.Ile1334Ser)
c.3839T>G (p.Ile1280Ser)
c.3872T>G (p.Ile1291Ser)
3g.38560391A>GCA352147541SCN5Ac.3998T>C (p.Ile1333Thr)
c.4001T>C (p.Ile1334Thr)
c.3839T>C (p.Ile1280Thr)
c.3872T>C (p.Ile1291Thr)
3g.38560391A>TCA352147542SCN5Ac.3998T>A (p.Ile1333Asn)
c.4001T>A (p.Ile1334Asn)
c.3839T>A (p.Ile1280Asn)
c.3872T>A (p.Ile1291Asn)
3g.38560392T>ACA352147545SCN5Ac.3997A>T (p.Ile1333Phe)
c.4000A>T (p.Ile1334Phe)
c.3838A>T (p.Ile1280Phe)
c.3871A>T (p.Ile1291Phe)
3g.38560392T>CCA017738SCN5Ac.3997A>G (p.Ile1333Val)
c.4000A>G (p.Ile1334Val)
c.3838A>G (p.Ile1280Val)
c.3871A>G (p.Ile1291Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38560392T>GCA352147546SCN5Ac.3997A>C (p.Ile1333Leu)
c.4000A>C (p.Ile1334Leu)
c.3838A>C (p.Ile1280Leu)
c.3871A>C (p.Ile1291Leu)
 gnomAD v4
3g.38560392T=CA1358565760SCN5Ac.3997A= (p.Ile1333=)
c.4000A= (p.Ile1334=)
c.3838A= (p.Ile1280=)
c.3871A= (p.Ile1291=)
3g.38560392_38560397delinsTGGACGCA1358565761SCN5Ac.3992_3997delinsCGTCCA (p.Pro1331=)
c.3995_4000delinsCGTCCA (p.Pro1332=)
c.3833_3838delinsCGTCCA (p.Pro1278=)
c.3866_3871delinsCGTCCA (p.Pro1289=)
3g.38560393G>ACA433332411SCN5Ac.3996C>T (p.Ser1332=)
c.3999C>T (p.Ser1333=)
c.3837C>T (p.Ser1279=)
c.3870C>T (p.Ser1290=)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
3g.38560393G>CCA433332412SCN5Ac.3996C>G (p.Ser1332=)
c.3999C>G (p.Ser1333=)
c.3837C>G (p.Ser1279=)
c.3870C>G (p.Ser1290=)
 ClinVar dbSNP
3g.38560393G=CA1358565762SCN5Ac.3996C= (p.Ser1332=)
c.3999C= (p.Ser1333=)
c.3837C= (p.Ser1279=)
c.3870C= (p.Ser1290=)
3g.38560393G>TCA433332410SCN5Ac.3996C>A (p.Ser1332=)
c.3999C>A (p.Ser1333=)
c.3837C>A (p.Ser1279=)
c.3870C>A (p.Ser1290=)
 gnomAD v4
3g.38560396_38560400delCA645372736SCN5Ac.3992_3996del (p.Pro1331HisfsTer?)
c.3995_3999del (p.Pro1332HisfsTer?)
c.3833_3837del (p.Pro1278HisfsTer?)
c.3866_3870del (p.Pro1289HisfsTer?)
 ClinVar dbSNP
3g.38560394G>ACA352147550SCN5Ac.3995C>T (p.Ser1332Phe)
c.3998C>T (p.Ser1333Phe)
c.3836C>T (p.Ser1279Phe)
c.3869C>T (p.Ser1290Phe)
3g.38560394G>CCA352147551SCN5Ac.3995C>G (p.Ser1332Cys)
c.3998C>G (p.Ser1333Cys)
c.3836C>G (p.Ser1279Cys)
c.3869C>G (p.Ser1290Cys)
3g.38560394G=CA1358565763SCN5Ac.3995C= (p.Ser1332=)
c.3998C= (p.Ser1333=)
c.3836C= (p.Ser1279=)
c.3869C= (p.Ser1290=)
3g.38560394G>TCA017732SCN5Ac.3995C>A (p.Ser1332Tyr)
c.3998C>A (p.Ser1333Tyr)
c.3836C>A (p.Ser1279Tyr)
c.3869C>A (p.Ser1290Tyr)
 ClinVar dbSNP COSMIC
3g.38560395A>CCA352147554SCN5Ac.3994T>G (p.Ser1332Ala)
c.3997T>G (p.Ser1333Ala)
c.3835T>G (p.Ser1279Ala)
c.3868T>G (p.Ser1290Ala)
3g.38560395A>GCA352147556SCN5Ac.3994T>C (p.Ser1332Pro)
c.3997T>C (p.Ser1333Pro)
c.3835T>C (p.Ser1279Pro)
c.3868T>C (p.Ser1290Pro)
3g.38560395A>TCA352147557SCN5Ac.3994T>A (p.Ser1332Thr)
c.3997T>A (p.Ser1333Thr)
c.3835T>A (p.Ser1279Thr)
c.3868T>A (p.Ser1290Thr)
3g.38560396C>ACA433332414SCN5Ac.3993G>T (p.Pro1331=)
c.3996G>T (p.Pro1332=)
c.3834G>T (p.Pro1278=)
c.3867G>T (p.Pro1289=)
 gnomAD v4
3g.38560396C=CA1358565765SCN5Ac.3993G= (p.Pro1331=)
c.3996G= (p.Pro1332=)
c.3834G= (p.Pro1278=)
c.3867G= (p.Pro1289=)
3g.38560396C>GCA433332415SCN5Ac.3993G>C (p.Pro1331=)
c.3996G>C (p.Pro1332=)
c.3834G>C (p.Pro1278=)
c.3867G>C (p.Pro1289=)
3g.38560396C>TCA062702SCN5Ac.3993G>A (p.Pro1331=)
c.3996G>A (p.Pro1332=)
c.3834G>A (p.Pro1278=)
c.3867G>A (p.Pro1289=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38560396_38560397delinsCGCA1358565764SCN5Ac.3992_3993delinsCG (p.Pro1331=)
c.3995_3996delinsCG (p.Pro1332=)
c.3833_3834delinsCG (p.Pro1278=)
c.3866_3867delinsCG (p.Pro1289=)
3g.38560397G>ACA017721SCN5Ac.3992C>T (p.Pro1331Leu)
c.3995C>T (p.Pro1332Leu)
c.3833C>T (p.Pro1278Leu)
c.3866C>T (p.Pro1289Leu)
 ClinVar dbSNP
3g.38560397G>CCA017715SCN5Ac.3992C>G (p.Pro1331Arg)
c.3995C>G (p.Pro1332Arg)
c.3833C>G (p.Pro1278Arg)
c.3866C>G (p.Pro1289Arg)
 ClinVar dbSNP
3g.38560397G=CA1358565766SCN5Ac.3992C= (p.Pro1331=)
c.3995C= (p.Pro1332=)
c.3833C= (p.Pro1278=)
c.3866C= (p.Pro1289=)
3g.38560397G>TCA352147562SCN5Ac.3992C>A (p.Pro1331Gln)
c.3995C>A (p.Pro1332Gln)
c.3833C>A (p.Pro1278Gln)
c.3866C>A (p.Pro1289Gln)
3g.38560399delCA017726SCN5Ac.3992del (p.Pro1331ArgfsTer4)
c.3995del (p.Pro1332ArgfsTer4)
c.3833del (p.Pro1278ArgfsTer4)
c.3866del (p.Pro1289ArgfsTer4)
 ClinVar dbSNP
3g.38560398G>ACA017710SCN5Ac.3991C>T (p.Pro1331Ser)
c.3994C>T (p.Pro1332Ser)
c.3832C>T (p.Pro1278Ser)
c.3865C>T (p.Pro1289Ser)
 ClinVar dbSNP COSMIC COSMIC COSMIC
3g.38560398G>CCA352147568SCN5Ac.3991C>G (p.Pro1331Ala)
c.3994C>G (p.Pro1332Ala)
c.3832C>G (p.Pro1278Ala)
c.3865C>G (p.Pro1289Ala)
3g.38560398G=CA1358565767SCN5Ac.3991C= (p.Pro1331=)
c.3994C= (p.Pro1332=)
c.3832C= (p.Pro1278=)
c.3865C= (p.Pro1289=)
3g.38560398G>TCA352147566SCN5Ac.3991C>A (p.Pro1331Thr)
c.3994C>A (p.Pro1332Thr)
c.3832C>A (p.Pro1278Thr)
c.3865C>A (p.Pro1289Thr)
3g.38560399G>ACA433332419SCN5Ac.3990C>T (p.Ile1330=)
c.3993C>T (p.Ile1331=)
c.3831C>T (p.Ile1277=)
c.3864C>T (p.Ile1288=)
 ClinVar
3g.38560399G>CCA72944955SCN5Ac.3990C>G (p.Ile1330Met)
c.3993C>G (p.Ile1331Met)
c.3831C>G (p.Ile1277Met)
c.3864C>G (p.Ile1288Met)
 dbSNP
3g.38560399G=CA1358565768SCN5Ac.3990C= (p.Ile1330=)
c.3993C= (p.Ile1331=)
c.3831C= (p.Ile1277=)
c.3864C= (p.Ile1288=)
3g.38560399G>TCA433332420SCN5Ac.3990C>A (p.Ile1330=)
c.3993C>A (p.Ile1331=)
c.3831C>A (p.Ile1277=)
c.3864C>A (p.Ile1288=)
3g.38560400A>CCA352147571SCN5Ac.3989T>G (p.Ile1330Ser)
c.3992T>G (p.Ile1331Ser)
c.3830T>G (p.Ile1277Ser)
c.3863T>G (p.Ile1288Ser)
3g.38560400A>GCA352147573SCN5Ac.3989T>C (p.Ile1330Thr)
c.3992T>C (p.Ile1331Thr)
c.3830T>C (p.Ile1277Thr)
c.3863T>C (p.Ile1288Thr)
3g.38560400A>TCA352147574SCN5Ac.3989T>A (p.Ile1330Asn)
c.3992T>A (p.Ile1331Asn)
c.3830T>A (p.Ile1277Asn)
c.3863T>A (p.Ile1288Asn)
3g.38560401T>ACA352147576SCN5Ac.3988A>T (p.Ile1330Phe)
c.3991A>T (p.Ile1331Phe)
c.3829A>T (p.Ile1277Phe)
c.3862A>T (p.Ile1288Phe)
3g.38560401T>CCA352147578SCN5Ac.3988A>G (p.Ile1330Val)
c.3991A>G (p.Ile1331Val)
c.3829A>G (p.Ile1277Val)
c.3862A>G (p.Ile1288Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38560401T>GCA352147580SCN5Ac.3988A>C (p.Ile1330Leu)
c.3991A>C (p.Ile1331Leu)
c.3829A>C (p.Ile1277Leu)
c.3862A>C (p.Ile1288Leu)
3g.38560401T=CA1358565769SCN5Ac.3988A= (p.Ile1330=)
c.3991A= (p.Ile1331=)
c.3829A= (p.Ile1277=)
c.3862A= (p.Ile1288=)
3g.38560402G>ACA433332422SCN5Ac.3987C>T (p.Ala1329=)
c.3990C>T (p.Ala1330=)
c.3828C>T (p.Ala1276=)
c.3861C>T (p.Ala1287=)
3g.38560402G>CCA433332423SCN5Ac.3987C>G (p.Ala1329=)
c.3990C>G (p.Ala1330=)
c.3828C>G (p.Ala1276=)
c.3861C>G (p.Ala1287=)
3g.38560402G>TCA433332424SCN5Ac.3987C>A (p.Ala1329=)
c.3990C>A (p.Ala1330=)
c.3828C>A (p.Ala1276=)
c.3861C>A (p.Ala1287=)
3g.38560403G>ACA352147583SCN5Ac.3986C>T (p.Ala1329Val)
c.3989C>T (p.Ala1330Val)
c.3827C>T (p.Ala1276Val)
c.3860C>T (p.Ala1287Val)
3g.38560403G>CCA352147584SCN5Ac.3986C>G (p.Ala1329Gly)
c.3989C>G (p.Ala1330Gly)
c.3827C>G (p.Ala1276Gly)
c.3860C>G (p.Ala1287Gly)
3g.38560403G>TCA352147586SCN5Ac.3986C>A (p.Ala1329Asp)
c.3989C>A (p.Ala1330Asp)
c.3827C>A (p.Ala1276Asp)
c.3860C>A (p.Ala1287Asp)
3g.38560404C>ACA352147588SCN5Ac.3985G>T (p.Ala1329Ser)
c.3988G>T (p.Ala1330Ser)
c.3826G>T (p.Ala1276Ser)
c.3859G>T (p.Ala1287Ser)
3g.38560404C=CA1358565770SCN5Ac.3985G= (p.Ala1329=)
c.3988G= (p.Ala1330=)
c.3826G= (p.Ala1276=)
c.3859G= (p.Ala1287=)
3g.38560404C>GCA017704SCN5Ac.3985G>C (p.Ala1329Pro)
c.3988G>C (p.Ala1330Pro)
c.3826G>C (p.Ala1276Pro)
c.3859G>C (p.Ala1287Pro)
 ClinVar dbSNP
3g.38560404C>TCA017699SCN5Ac.3985G>A (p.Ala1329Thr)
c.3988G>A (p.Ala1330Thr)
c.3826G>A (p.Ala1276Thr)
c.3859G>A (p.Ala1287Thr)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
3g.38560405G>ACA062697SCN5Ac.3984C>T (p.Gly1328=)
c.3987C>T (p.Gly1329=)
c.3825C>T (p.Gly1275=)
c.3858C>T (p.Gly1286=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38560405G>CCA433332425SCN5Ac.3984C>G (p.Gly1328=)
c.3987C>G (p.Gly1329=)
c.3825C>G (p.Gly1275=)
c.3858C>G (p.Gly1286=)
3g.38560405G=CA1358565771SCN5Ac.3984C= (p.Gly1328=)
c.3987C= (p.Gly1329=)
c.3825C= (p.Gly1275=)
c.3858C= (p.Gly1286=)
3g.38560405G>TCA433332426SCN5Ac.3984C>A (p.Gly1328=)
c.3987C>A (p.Gly1329=)
c.3825C>A (p.Gly1275=)
c.3858C>A (p.Gly1286=)
3g.38560406C>ACA352147598SCN5Ac.3983G>T (p.Gly1328Val)
c.3986G>T (p.Gly1329Val)
c.3824G>T (p.Gly1275Val)
c.3857G>T (p.Gly1286Val)
3g.38560406C>GCA352147593SCN5Ac.3983G>C (p.Gly1328Ala)
c.3986G>C (p.Gly1329Ala)
c.3824G>C (p.Gly1275Ala)
c.3857G>C (p.Gly1286Ala)
3g.38560406C>TCA352147595SCN5Ac.3983G>A (p.Gly1328Asp)
c.3986G>A (p.Gly1329Asp)
c.3824G>A (p.Gly1275Asp)
c.3857G>A (p.Gly1286Asp)
3g.38560407_38560452delCA2665111489SCN5Ac.3961-23_3983del
c.3964-23_3986del
c.3802-23_3824del
c.3835-23_3857del
 gnomAD v4
3g.38560407C>ACA352147600SCN5Ac.3982G>T (p.Gly1328Cys)
c.3985G>T (p.Gly1329Cys)
c.3823G>T (p.Gly1275Cys)
c.3856G>T (p.Gly1286Cys)
3g.38560407C=CA1358565772SCN5Ac.3982G= (p.Gly1328=)
c.3985G= (p.Gly1329=)
c.3823G= (p.Gly1275=)
c.3856G= (p.Gly1286=)
3g.38560407C>GCA352147602SCN5Ac.3982G>C (p.Gly1328Arg)
c.3985G>C (p.Gly1329Arg)
c.3823G>C (p.Gly1275Arg)
c.3856G>C (p.Gly1286Arg)
3g.38560407C>TCA017693SCN5Ac.3982G>A (p.Gly1328Ser)
c.3985G>A (p.Gly1329Ser)
c.3823G>A (p.Gly1275Ser)
c.3856G>A (p.Gly1286Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38560408C>ACA433332432SCN5Ac.3981G>T (p.Val1327=)
c.3984G>T (p.Val1328=)
c.3822G>T (p.Val1274=)
c.3855G>T (p.Val1285=)
3g.38560408C=CA1358565773SCN5Ac.3981G= (p.Val1327=)
c.3984G= (p.Val1328=)
c.3822G= (p.Val1274=)
c.3855G= (p.Val1285=)
3g.38560408C>GCA433332433SCN5Ac.3981G>C (p.Val1327=)
c.3984G>C (p.Val1328=)
c.3822G>C (p.Val1274=)
c.3855G>C (p.Val1285=)
3g.38560408C>TCA433332431SCN5Ac.3981G>A (p.Val1327=)
c.3984G>A (p.Val1328=)
c.3822G>A (p.Val1274=)
c.3855G>A (p.Val1285=)
 dbSNP gnomAD v3 gnomAD v4
3g.38560409A=CA1358565774SCN5Ac.3980T= (p.Val1327=)
c.3983T= (p.Val1328=)
c.3821T= (p.Val1274=)
c.3854T= (p.Val1285=)
3g.38560409A>CCA352147605SCN5Ac.3980T>G (p.Val1327Gly)
c.3983T>G (p.Val1328Gly)
c.3821T>G (p.Val1274Gly)
c.3854T>G (p.Val1285Gly)
3g.38560409A>GCA352147607SCN5Ac.3980T>C (p.Val1327Ala)
c.3983T>C (p.Val1328Ala)
c.3821T>C (p.Val1274Ala)
c.3854T>C (p.Val1285Ala)
 dbSNP gnomAD v4
3g.38560409A>TCA352147608SCN5Ac.3980T>A (p.Val1327Glu)
c.3983T>A (p.Val1328Glu)
c.3821T>A (p.Val1274Glu)
c.3854T>A (p.Val1285Glu)
 COSMIC COSMIC COSMIC
3g.38560410C>ACA352147611SCN5Ac.3979G>T (p.Val1327Leu)
c.3982G>T (p.Val1328Leu)
c.3820G>T (p.Val1274Leu)
c.3853G>T (p.Val1285Leu)
3g.38560410C=CA1358565775SCN5Ac.3979G= (p.Val1327=)
c.3982G= (p.Val1328=)
c.3820G= (p.Val1274=)
c.3853G= (p.Val1285=)
3g.38560410C>GCA352147613SCN5Ac.3979G>C (p.Val1327Leu)
c.3982G>C (p.Val1328Leu)
c.3820G>C (p.Val1274Leu)
c.3853G>C (p.Val1285Leu)
3g.38560410C>TCA352147615SCN5Ac.3979G>A (p.Val1327Met)
c.3982G>A (p.Val1328Met)
c.3820G>A (p.Val1274Met)
c.3853G>A (p.Val1285Met)
 dbSNP gnomAD v4
3g.38560411C>ACA433332437SCN5Ac.3978G>T (p.Leu1326=)
c.3981G>T (p.Leu1327=)
c.3819G>T (p.Leu1273=)
c.3852G>T (p.Leu1284=)
 ClinVar dbSNP
3g.38560411C=CA1358565776SCN5Ac.3978G= (p.Leu1326=)
c.3981G= (p.Leu1327=)
c.3819G= (p.Leu1273=)
c.3852G= (p.Leu1284=)
3g.38560411C>GCA433332435SCN5Ac.3978G>C (p.Leu1326=)
c.3981G>C (p.Leu1327=)
c.3819G>C (p.Leu1273=)
c.3852G>C (p.Leu1284=)
3g.38560411C>TCA433332436SCN5Ac.3978G>A (p.Leu1326=)
c.3981G>A (p.Leu1327=)
c.3819G>A (p.Leu1273=)
c.3852G>A (p.Leu1284=)
 ClinVar
3g.38560412A>CCA352147617SCN5Ac.3977T>G (p.Leu1326Arg)
c.3980T>G (p.Leu1327Arg)
c.3818T>G (p.Leu1273Arg)
c.3851T>G (p.Leu1284Arg)
3g.38560412A>GCA352147618SCN5Ac.3977T>C (p.Leu1326Pro)
c.3980T>C (p.Leu1327Pro)
c.3818T>C (p.Leu1273Pro)
c.3851T>C (p.Leu1284Pro)
3g.38560412A>TCA352147620SCN5Ac.3977T>A (p.Leu1326Gln)
c.3980T>A (p.Leu1327Gln)
c.3818T>A (p.Leu1273Gln)
c.3851T>A (p.Leu1284Gln)
3g.38560413G>ACA433332438SCN5Ac.3976C>T (p.Leu1326=)
c.3979C>T (p.Leu1327=)
c.3817C>T (p.Leu1273=)
c.3850C>T (p.Leu1284=)
3g.38560413G>CCA352147624SCN5Ac.3976C>G (p.Leu1326Val)
c.3979C>G (p.Leu1327Val)
c.3817C>G (p.Leu1273Val)
c.3850C>G (p.Leu1284Val)
3g.38560413G>TCA352147622SCN5Ac.3976C>A (p.Leu1326Met)
c.3979C>A (p.Leu1327Met)
c.3817C>A (p.Leu1273Met)
c.3850C>A (p.Leu1284Met)
3g.38560414G>ACA433332440SCN5Ac.3975C>T (p.Ala1325=)
c.3978C>T (p.Ala1326=)
c.3816C>T (p.Ala1272=)
c.3849C>T (p.Ala1283=)
3g.38560414G>CCA433332441SCN5Ac.3975C>G (p.Ala1325=)
c.3978C>G (p.Ala1326=)
c.3816C>G (p.Ala1272=)
c.3849C>G (p.Ala1283=)
3g.38560414G>TCA433332439SCN5Ac.3975C>A (p.Ala1325=)
c.3978C>A (p.Ala1326=)
c.3816C>A (p.Ala1272=)
c.3849C>A (p.Ala1283=)
3g.38560415G>ACA352147625SCN5Ac.3974C>T (p.Ala1325Val)
c.3977C>T (p.Ala1326Val)
c.3815C>T (p.Ala1272Val)
c.3848C>T (p.Ala1283Val)
3g.38560415G>CCA352147626SCN5Ac.3974C>G (p.Ala1325Gly)
c.3977C>G (p.Ala1326Gly)
c.3815C>G (p.Ala1272Gly)
c.3848C>G (p.Ala1283Gly)
3g.38560415G>TCA352147627SCN5Ac.3974C>A (p.Ala1325Asp)
c.3977C>A (p.Ala1326Asp)
c.3815C>A (p.Ala1272Asp)
c.3848C>A (p.Ala1283Asp)
 ClinVar
3g.38560416C>ACA017686SCN5Ac.3973G>T (p.Ala1325Ser)
c.3976G>T (p.Ala1326Ser)
c.3814G>T (p.Ala1272Ser)
c.3847G>T (p.Ala1283Ser)
 ClinVar dbSNP
3g.38560416C=CA1358565777SCN5Ac.3973G= (p.Ala1325=)
c.3976G= (p.Ala1326=)
c.3814G= (p.Ala1272=)
c.3847G= (p.Ala1283=)
3g.38560416C>GCA352147628SCN5Ac.3973G>C (p.Ala1325Pro)
c.3976G>C (p.Ala1326Pro)
c.3814G>C (p.Ala1272Pro)
c.3847G>C (p.Ala1283Pro)
3g.38560416C>TCA352147629SCN5Ac.3973G>A (p.Ala1325Thr)
c.3976G>A (p.Ala1326Thr)
c.3814G>A (p.Ala1272Thr)
c.3847G>A (p.Ala1283Thr)

Number of alleles fetched