Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38562433T>ACA062572SCN5Ac.3942A>T (p.Ser1314=)
c.3945A>T (p.Ser1315=)
c.3783A>T (p.Ser1261=)
c.3816A>T (p.Ser1272=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38562433T>CCA433136442SCN5Ac.3942A>G (p.Ser1314=)
c.3945A>G (p.Ser1315=)
c.3783A>G (p.Ser1261=)
c.3816A>G (p.Ser1272=)
3g.38562433T>GCA433136443SCN5Ac.3942A>C (p.Ser1314=)
c.3945A>C (p.Ser1315=)
c.3783A>C (p.Ser1261=)
c.3816A>C (p.Ser1272=)
3g.38562433T=CA1358566699SCN5Ac.3942A= (p.Ser1314=)
c.3945A= (p.Ser1315=)
c.3783A= (p.Ser1261=)
c.3816A= (p.Ser1272=)
3g.38562434G>ACA352148093SCN5Ac.3941C>T (p.Ser1314Leu)
c.3944C>T (p.Ser1315Leu)
c.3782C>T (p.Ser1261Leu)
c.3815C>T (p.Ser1272Leu)
3g.38562434G>CCA352148094SCN5Ac.3941C>G (p.Ser1314Ter)
c.3944C>G (p.Ser1315Ter)
c.3782C>G (p.Ser1261Ter)
c.3815C>G (p.Ser1272Ter)
 gnomAD v4
3g.38562434G=CA1358566700SCN5Ac.3941C= (p.Ser1314=)
c.3944C= (p.Ser1315=)
c.3782C= (p.Ser1261=)
c.3815C= (p.Ser1272=)
3g.38562434G>TCA352148095SCN5Ac.3941C>A (p.Ser1314Ter)
c.3944C>A (p.Ser1315Ter)
c.3782C>A (p.Ser1261Ter)
c.3815C>A (p.Ser1272Ter)
 dbSNP gnomAD v2
3g.38562435A>CCA352148096SCN5Ac.3940T>G (p.Ser1314Ala)
c.3943T>G (p.Ser1315Ala)
c.3781T>G (p.Ser1261Ala)
c.3814T>G (p.Ser1272Ala)
3g.38562435A>GCA352148097SCN5Ac.3940T>C (p.Ser1314Pro)
c.3943T>C (p.Ser1315Pro)
c.3781T>C (p.Ser1261Pro)
c.3814T>C (p.Ser1272Pro)
3g.38562435A>TCA352148098SCN5Ac.3940T>A (p.Ser1314Thr)
c.3943T>A (p.Ser1315Thr)
c.3781T>A (p.Ser1261Thr)
c.3814T>A (p.Ser1272Thr)
3g.38562436C>ACA433136444SCN5Ac.3939G>T (p.Leu1313=)
c.3942G>T (p.Leu1314=)
c.3780G>T (p.Leu1260=)
c.3813G>T (p.Leu1271=)
3g.38562436C=CA1358566702SCN5Ac.3939G= (p.Leu1313=)
c.3942G= (p.Leu1314=)
c.3780G= (p.Leu1260=)
c.3813G= (p.Leu1271=)
3g.38562436C>GCA433136446SCN5Ac.3939G>C (p.Leu1313=)
c.3942G>C (p.Leu1314=)
c.3780G>C (p.Leu1260=)
c.3813G>C (p.Leu1271=)
 gnomAD v4
3g.38562436C>TCA433136445SCN5Ac.3939G>A (p.Leu1313=)
c.3942G>A (p.Leu1314=)
c.3780G>A (p.Leu1260=)
c.3813G>A (p.Leu1271=)
 dbSNP
3g.38562436_38562438delinsCAGCA1358566701SCN5Ac.3937_3939delinsCTG (p.Leu1313=)
c.3940_3942delinsCTG (p.Leu1314=)
c.3778_3780delinsCTG (p.Leu1260=)
c.3811_3813delinsCTG (p.Leu1271=)
3g.38562437A>CCA352148099SCN5Ac.3938T>G (p.Leu1313Arg)
c.3941T>G (p.Leu1314Arg)
c.3779T>G (p.Leu1260Arg)
c.3812T>G (p.Leu1271Arg)
3g.38562437A>GCA352148100SCN5Ac.3938T>C (p.Leu1313Pro)
c.3941T>C (p.Leu1314Pro)
c.3779T>C (p.Leu1260Pro)
c.3812T>C (p.Leu1271Pro)
3g.38562437A>TCA352148101SCN5Ac.3938T>A (p.Leu1313Gln)
c.3941T>A (p.Leu1314Gln)
c.3779T>A (p.Leu1260Gln)
c.3812T>A (p.Leu1271Gln)
3g.38562439_38562440delCA915942428SCN5Ac.3937_3938del (p.Leu1313ValfsTer4)
c.3940_3941del (p.Leu1314ValfsTer4)
c.3778_3779del (p.Leu1260ValfsTer4)
c.3811_3812del (p.Leu1271ValfsTer4)
 ClinVar dbSNP
3g.38562438G>ACA433136447SCN5Ac.3937C>T (p.Leu1313=)
c.3940C>T (p.Leu1314=)
c.3778C>T (p.Leu1260=)
c.3811C>T (p.Leu1271=)
3g.38562438G>CCA352148102SCN5Ac.3937C>G (p.Leu1313Val)
c.3940C>G (p.Leu1314Val)
c.3778C>G (p.Leu1260Val)
c.3811C>G (p.Leu1271Val)
3g.38562438G>TCA352148103SCN5Ac.3937C>A (p.Leu1313Met)
c.3940C>A (p.Leu1314Met)
c.3778C>A (p.Leu1260Met)
c.3811C>A (p.Leu1271Met)
3g.38562439A=CA1358566703SCN5Ac.3936T= (p.Ala1312=)
c.3939T= (p.Ala1313=)
c.3777T= (p.Ala1259=)
c.3810T= (p.Ala1270=)
3g.38562439A>CCA433136448SCN5Ac.3936T>G (p.Ala1312=)
c.3939T>G (p.Ala1313=)
c.3777T>G (p.Ala1259=)
c.3810T>G (p.Ala1270=)
3g.38562439A>GCA433136449SCN5Ac.3936T>C (p.Ala1312=)
c.3939T>C (p.Ala1313=)
c.3777T>C (p.Ala1259=)
c.3810T>C (p.Ala1270=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38562439A>TCA433136450SCN5Ac.3936T>A (p.Ala1312=)
c.3939T>A (p.Ala1313=)
c.3777T>A (p.Ala1259=)
c.3810T>A (p.Ala1270=)
3g.38562440G>ACA352148104SCN5Ac.3935C>T (p.Ala1312Val)
c.3938C>T (p.Ala1313Val)
c.3776C>T (p.Ala1259Val)
c.3809C>T (p.Ala1270Val)
3g.38562440G>CCA352148105SCN5Ac.3935C>G (p.Ala1312Gly)
c.3938C>G (p.Ala1313Gly)
c.3776C>G (p.Ala1259Gly)
c.3809C>G (p.Ala1270Gly)
3g.38562440G>TCA352148106SCN5Ac.3935C>A (p.Ala1312Asp)
c.3938C>A (p.Ala1313Asp)
c.3776C>A (p.Ala1259Asp)
c.3809C>A (p.Ala1270Asp)
3g.38562441C>ACA352148107SCN5Ac.3934G>T (p.Ala1312Ser)
c.3937G>T (p.Ala1313Ser)
c.3775G>T (p.Ala1259Ser)
c.3808G>T (p.Ala1270Ser)
3g.38562441C>GCA352148108SCN5Ac.3934G>C (p.Ala1312Pro)
c.3937G>C (p.Ala1313Pro)
c.3775G>C (p.Ala1259Pro)
c.3808G>C (p.Ala1270Pro)
3g.38562441C>TCA352148109SCN5Ac.3934G>A (p.Ala1312Thr)
c.3937G>A (p.Ala1313Thr)
c.3775G>A (p.Ala1259Thr)
c.3808G>A (p.Ala1270Thr)
 gnomAD v4
3g.38562442T>ACA352148110SCN5Ac.3933A>T (p.Arg1311Ser)
c.3936A>T (p.Arg1312Ser)
c.3774A>T (p.Arg1258Ser)
c.3807A>T (p.Arg1269Ser)
3g.38562442T>CCA433136451SCN5Ac.3933A>G (p.Arg1311=)
c.3936A>G (p.Arg1312=)
c.3774A>G (p.Arg1258=)
c.3807A>G (p.Arg1269=)
3g.38562442T>GCA352148111SCN5Ac.3933A>C (p.Arg1311Ser)
c.3936A>C (p.Arg1312Ser)
c.3774A>C (p.Arg1258Ser)
c.3807A>C (p.Arg1269Ser)
3g.38562443C>ACA352148112SCN5Ac.3932G>T (p.Arg1311Ile)
c.3935G>T (p.Arg1312Ile)
c.3773G>T (p.Arg1258Ile)
c.3806G>T (p.Arg1269Ile)
3g.38562443C=CA1358566704SCN5Ac.3932G= (p.Arg1311=)
c.3935G= (p.Arg1312=)
c.3773G= (p.Arg1258=)
c.3806G= (p.Arg1269=)
3g.38562443C>GCA352148113SCN5Ac.3932G>C (p.Arg1311Thr)
c.3935G>C (p.Arg1312Thr)
c.3773G>C (p.Arg1258Thr)
c.3806G>C (p.Arg1269Thr)
 dbSNP
3g.38562443C>TCA352148114SCN5Ac.3932G>A (p.Arg1311Lys)
c.3935G>A (p.Arg1312Lys)
c.3773G>A (p.Arg1258Lys)
c.3806G>A (p.Arg1269Lys)
3g.38562444T>ACA352148115SCN5Ac.3931A>T (p.Arg1311Ter)
c.3934A>T (p.Arg1312Ter)
c.3772A>T (p.Arg1258Ter)
c.3805A>T (p.Arg1269Ter)
 dbSNP
3g.38562444T>CCA352148116SCN5Ac.3931A>G (p.Arg1311Gly)
c.3934A>G (p.Arg1312Gly)
c.3772A>G (p.Arg1258Gly)
c.3805A>G (p.Arg1269Gly)
3g.38562444T>GCA433136452SCN5Ac.3931A>C (p.Arg1311=)
c.3934A>C (p.Arg1312=)
c.3772A>C (p.Arg1258=)
c.3805A>C (p.Arg1269=)
3g.38562444T=CA1358566705SCN5Ac.3931A= (p.Arg1311=)
c.3934A= (p.Arg1312=)
c.3772A= (p.Arg1258=)
c.3805A= (p.Arg1269=)
3g.38562445C>ACA433136453SCN5Ac.3930G>T (p.Leu1310=)
c.3933G>T (p.Leu1311=)
c.3771G>T (p.Leu1257=)
c.3804G>T (p.Leu1268=)
 gnomAD v4
3g.38562445C=CA1358566706SCN5Ac.3930G= (p.Leu1310=)
c.3933G= (p.Leu1311=)
c.3771G= (p.Leu1257=)
c.3804G= (p.Leu1268=)
3g.38562445C>GCA433136455SCN5Ac.3930G>C (p.Leu1310=)
c.3933G>C (p.Leu1311=)
c.3771G>C (p.Leu1257=)
c.3804G>C (p.Leu1268=)
 dbSNP
3g.38562445C>TCA433136456SCN5Ac.3930G>A (p.Leu1310=)
c.3933G>A (p.Leu1311=)
c.3771G>A (p.Leu1257=)
c.3804G>A (p.Leu1268=)
3g.38562446A=CA1358566707SCN5Ac.3929T= (p.Leu1310=)
c.3932T= (p.Leu1311=)
c.3770T= (p.Leu1257=)
c.3803T= (p.Leu1268=)
3g.38562446A>CCA352148117SCN5Ac.3929T>G (p.Leu1310Arg)
c.3932T>G (p.Leu1311Arg)
c.3770T>G (p.Leu1257Arg)
c.3803T>G (p.Leu1268Arg)
3g.38562446A>GCA017639SCN5Ac.3929T>C (p.Leu1310Pro)
c.3932T>C (p.Leu1311Pro)
c.3770T>C (p.Leu1257Pro)
c.3803T>C (p.Leu1268Pro)
 ClinVar dbSNP
3g.38562446A>TCA352148118SCN5Ac.3929T>A (p.Leu1310Gln)
c.3932T>A (p.Leu1311Gln)
c.3770T>A (p.Leu1257Gln)
c.3803T>A (p.Leu1268Gln)
3g.38562448_38562449delCA2586965794SCN5Ac.3928_3929del (p.Leu1310GlufsTer7)
c.3931_3932del (p.Leu1311GlufsTer7)
c.3769_3770del (p.Leu1257GlufsTer7)
c.3802_3803del (p.Leu1268GlufsTer7)
3g.38562447G>ACA433136457SCN5Ac.3928C>T (p.Leu1310=)
c.3931C>T (p.Leu1311=)
c.3769C>T (p.Leu1257=)
c.3802C>T (p.Leu1268=)
3g.38562447G>CCA352148119SCN5Ac.3928C>G (p.Leu1310Val)
c.3931C>G (p.Leu1311Val)
c.3769C>G (p.Leu1257Val)
c.3802C>G (p.Leu1268Val)
3g.38562447G>TCA352148120SCN5Ac.3928C>A (p.Leu1310Met)
c.3931C>A (p.Leu1311Met)
c.3769C>A (p.Leu1257Met)
c.3802C>A (p.Leu1268Met)
 COSMIC COSMIC COSMIC
3g.38562448A>CCA433136458SCN5Ac.3927T>G (p.Pro1309=)
c.3930T>G (p.Pro1310=)
c.3768T>G (p.Pro1256=)
c.3801T>G (p.Pro1267=)
3g.38562448A>GCA433136459SCN5Ac.3927T>C (p.Pro1309=)
c.3930T>C (p.Pro1310=)
c.3768T>C (p.Pro1256=)
c.3801T>C (p.Pro1267=)
3g.38562448A>TCA433136460SCN5Ac.3927T>A (p.Pro1309=)
c.3930T>A (p.Pro1310=)
c.3768T>A (p.Pro1256=)
c.3801T>A (p.Pro1267=)
3g.38562449G>ACA352148121SCN5Ac.3926C>T (p.Pro1309Leu)
c.3929C>T (p.Pro1310Leu)
c.3767C>T (p.Pro1256Leu)
c.3800C>T (p.Pro1267Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
3g.38562449G>CCA352148122SCN5Ac.3926C>G (p.Pro1309Arg)
c.3929C>G (p.Pro1310Arg)
c.3767C>G (p.Pro1256Arg)
c.3800C>G (p.Pro1267Arg)
3g.38562449G=CA1358566708SCN5Ac.3926C= (p.Pro1309=)
c.3929C= (p.Pro1310=)
c.3767C= (p.Pro1256=)
c.3800C= (p.Pro1267=)
3g.38562449G>TCA352148123SCN5Ac.3926C>A (p.Pro1309His)
c.3929C>A (p.Pro1310His)
c.3767C>A (p.Pro1256His)
c.3800C>A (p.Pro1267His)
 gnomAD v4
3g.38562450G>ACA352148124SCN5Ac.3925C>T (p.Pro1309Ser)
c.3928C>T (p.Pro1310Ser)
c.3766C>T (p.Pro1256Ser)
c.3799C>T (p.Pro1267Ser)
 ClinVar dbSNP
3g.38562450G>CCA352148125SCN5Ac.3925C>G (p.Pro1309Ala)
c.3928C>G (p.Pro1310Ala)
c.3766C>G (p.Pro1256Ala)
c.3799C>G (p.Pro1267Ala)
3g.38562450G=CA1358566709SCN5Ac.3925C= (p.Pro1309=)
c.3928C= (p.Pro1310=)
c.3766C= (p.Pro1256=)
c.3799C= (p.Pro1267=)
3g.38562450G>TCA352148126SCN5Ac.3925C>A (p.Pro1309Thr)
c.3928C>A (p.Pro1310Thr)
c.3766C>A (p.Pro1256Thr)
c.3799C>A (p.Pro1267Thr)
3g.38562451A>CCA433136461SCN5Ac.3924T>G (p.Arg1308=)
c.3927T>G (p.Arg1309=)
c.3765T>G (p.Arg1255=)
c.3798T>G (p.Arg1266=)
3g.38562451A>GCA433136462SCN5Ac.3924T>C (p.Arg1308=)
c.3927T>C (p.Arg1309=)
c.3765T>C (p.Arg1255=)
c.3798T>C (p.Arg1266=)
 ClinVar dbSNP
3g.38562451A>TCA433136463SCN5Ac.3924T>A (p.Arg1308=)
c.3927T>A (p.Arg1309=)
c.3765T>A (p.Arg1255=)
c.3798T>A (p.Arg1266=)
3g.38562452C>ACA352148127SCN5Ac.3923G>T (p.Arg1308Leu)
c.3926G>T (p.Arg1309Leu)
c.3764G>T (p.Arg1255Leu)
c.3797G>T (p.Arg1266Leu)
 gnomAD v4
3g.38562452C=CA1358566710SCN5Ac.3923G= (p.Arg1308=)
c.3926G= (p.Arg1309=)
c.3764G= (p.Arg1255=)
c.3797G= (p.Arg1266=)
3g.38562452C>GCA352148128SCN5Ac.3923G>C (p.Arg1308Pro)
c.3926G>C (p.Arg1309Pro)
c.3764G>C (p.Arg1255Pro)
c.3797G>C (p.Arg1266Pro)
3g.38562452C>TCA017632SCN5Ac.3923G>A (p.Arg1308His)
c.3926G>A (p.Arg1309His)
c.3764G>A (p.Arg1255His)
c.3797G>A (p.Arg1266His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38562453G>ACA10588360SCN5Ac.3922C>T (p.Arg1308Cys)
c.3925C>T (p.Arg1309Cys)
c.3763C>T (p.Arg1255Cys)
c.3796C>T (p.Arg1266Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38562453G>CCA352148130SCN5Ac.3922C>G (p.Arg1308Gly)
c.3925C>G (p.Arg1309Gly)
c.3763C>G (p.Arg1255Gly)
c.3796C>G (p.Arg1266Gly)
3g.38562453G=CA1358566711SCN5Ac.3922C= (p.Arg1308=)
c.3925C= (p.Arg1309=)
c.3763C= (p.Arg1255=)
c.3796C= (p.Arg1266=)
3g.38562453G>TCA352148129SCN5Ac.3922C>A (p.Arg1308Ser)
c.3925C>A (p.Arg1309Ser)
c.3763C>A (p.Arg1255Ser)
c.3796C>A (p.Arg1266Ser)
 COSMIC COSMIC COSMIC
3g.38562454G>ACA433136464SCN5Ac.3921C>T (p.Leu1307=)
c.3924C>T (p.Leu1308=)
c.3762C>T (p.Leu1254=)
c.3795C>T (p.Leu1265=)
 COSMIC COSMIC COSMIC
3g.38562454G>CCA433136465SCN5Ac.3921C>G (p.Leu1307=)
c.3924C>G (p.Leu1308=)
c.3762C>G (p.Leu1254=)
c.3795C>G (p.Leu1265=)
 ClinVar dbSNP
3g.38562454G>TCA433136466SCN5Ac.3921C>A (p.Leu1307=)
c.3924C>A (p.Leu1308=)
c.3762C>A (p.Leu1254=)
c.3795C>A (p.Leu1265=)
 COSMIC COSMIC COSMIC
3g.38562455A>CCA352148131SCN5Ac.3920T>G (p.Leu1307Arg)
c.3923T>G (p.Leu1308Arg)
c.3761T>G (p.Leu1254Arg)
c.3794T>G (p.Leu1265Arg)
3g.38562455A>GCA352148132SCN5Ac.3920T>C (p.Leu1307Pro)
c.3923T>C (p.Leu1308Pro)
c.3761T>C (p.Leu1254Pro)
c.3794T>C (p.Leu1265Pro)
3g.38562455A>TCA352148133SCN5Ac.3920T>A (p.Leu1307His)
c.3923T>A (p.Leu1308His)
c.3761T>A (p.Leu1254His)
c.3794T>A (p.Leu1265His)
3g.38562456G>ACA017626SCN5Ac.3919C>T (p.Leu1307Phe)
c.3922C>T (p.Leu1308Phe)
c.3760C>T (p.Leu1254Phe)
c.3793C>T (p.Leu1265Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.[38562456G>A;38613752C>T]CA085417SCN5Ac.[694G>A;3919C>T] (p.[Val232Ile;Leu1307Phe])
c.[694G>A;3922C>T] (p.[Val232Ile;Leu1308Phe])
c.[703+223G>A;3922C>T] (p.Leu1308Phe)
c.[694G>A;3760C>T] (p.[Val232Ile;Leu1254Phe])
c.[703+223G>A;3760C>T] (p.Leu1254Phe)
c.[703+223G>A;3919C>T] (p.Leu1307Phe)
c.[565G>A;3793C>T] (p.[Val189Ile;Leu1265Phe])
 ClinVar
3g.38562456G>CCA352148134SCN5Ac.3919C>G (p.Leu1307Val)
c.3922C>G (p.Leu1308Val)
c.3760C>G (p.Leu1254Val)
c.3793C>G (p.Leu1265Val)
3g.38562456G=CA1358566712SCN5Ac.3919C= (p.Leu1307=)
c.3922C= (p.Leu1308=)
c.3760C= (p.Leu1254=)
c.3793C= (p.Leu1265=)
3g.38562456G>TCA352148135SCN5Ac.3919C>A (p.Leu1307Ile)
c.3922C>A (p.Leu1308Ile)
c.3760C>A (p.Leu1254Ile)
c.3793C>A (p.Leu1265Ile)
3g.38562457T>ACA433136471SCN5Ac.3918A>T (p.Ala1306=)
c.3921A>T (p.Ala1307=)
c.3759A>T (p.Ala1253=)
c.3792A>T (p.Ala1264=)
3g.38562457T>CCA433136470SCN5Ac.3918A>G (p.Ala1306=)
c.3921A>G (p.Ala1307=)
c.3759A>G (p.Ala1253=)
c.3792A>G (p.Ala1264=)
 ClinVar
3g.38562457T>GCA433136469SCN5Ac.3918A>C (p.Ala1306=)
c.3921A>C (p.Ala1307=)
c.3759A>C (p.Ala1253=)
c.3792A>C (p.Ala1264=)
3g.38562458G>ACA352148138SCN5Ac.3917C>T (p.Ala1306Val)
c.3920C>T (p.Ala1307Val)
c.3758C>T (p.Ala1253Val)
c.3791C>T (p.Ala1264Val)
3g.38562458G>CCA352148136SCN5Ac.3917C>G (p.Ala1306Gly)
c.3920C>G (p.Ala1307Gly)
c.3758C>G (p.Ala1253Gly)
c.3791C>G (p.Ala1264Gly)
3g.38562458G>TCA352148137SCN5Ac.3917C>A (p.Ala1306Glu)
c.3920C>A (p.Ala1307Glu)
c.3758C>A (p.Ala1253Glu)
c.3791C>A (p.Ala1264Glu)
3g.38562459C>ACA352148139SCN5Ac.3916G>T (p.Ala1306Ser)
c.3919G>T (p.Ala1307Ser)
c.3757G>T (p.Ala1253Ser)
c.3790G>T (p.Ala1264Ser)
3g.38562459C>GCA352148140SCN5Ac.3916G>C (p.Ala1306Pro)
c.3919G>C (p.Ala1307Pro)
c.3757G>C (p.Ala1253Pro)
c.3790G>C (p.Ala1264Pro)
3g.38562459C>TCA352148141SCN5Ac.3916G>A (p.Ala1306Thr)
c.3919G>A (p.Ala1307Thr)
c.3757G>A (p.Ala1253Thr)
c.3790G>A (p.Ala1264Thr)
3g.38562460A>CCA433136474SCN5Ac.3915T>G (p.Arg1305=)
c.3918T>G (p.Arg1306=)
c.3756T>G (p.Arg1252=)
c.3789T>G (p.Arg1263=)
3g.38562460A>GCA433136473SCN5Ac.3915T>C (p.Arg1305=)
c.3918T>C (p.Arg1306=)
c.3756T>C (p.Arg1252=)
c.3789T>C (p.Arg1263=)
3g.38562460A>TCA433136472SCN5Ac.3915T>A (p.Arg1305=)
c.3918T>A (p.Arg1306=)
c.3756T>A (p.Arg1252=)
c.3789T>A (p.Arg1263=)
3g.38562461C>ACA352148142SCN5Ac.3914G>T (p.Arg1305Leu)
c.3917G>T (p.Arg1306Leu)
c.3755G>T (p.Arg1252Leu)
c.3788G>T (p.Arg1263Leu)
 ClinVar dbSNP
3g.38562461C=CA1358566713SCN5Ac.3914G= (p.Arg1305=)
c.3917G= (p.Arg1306=)
c.3755G= (p.Arg1252=)
c.3788G= (p.Arg1263=)
3g.38562461C>GCA352148143SCN5Ac.3914G>C (p.Arg1305Pro)
c.3917G>C (p.Arg1306Pro)
c.3755G>C (p.Arg1252Pro)
c.3788G>C (p.Arg1263Pro)
3g.38562461C>TCA017618SCN5Ac.3914G>A (p.Arg1305His)
c.3917G>A (p.Arg1306His)
c.3755G>A (p.Arg1252His)
c.3788G>A (p.Arg1263His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38562462G>ACA352148144SCN5Ac.3913C>T (p.Arg1305Cys)
c.3916C>T (p.Arg1306Cys)
c.3754C>T (p.Arg1252Cys)
c.3787C>T (p.Arg1263Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38562462G>CCA352148146SCN5Ac.3913C>G (p.Arg1305Gly)
c.3916C>G (p.Arg1306Gly)
c.3754C>G (p.Arg1252Gly)
c.3787C>G (p.Arg1263Gly)
 ClinVar dbSNP
3g.38562462G=CA1358566714SCN5Ac.3913C= (p.Arg1305=)
c.3916C= (p.Arg1306=)
c.3754C= (p.Arg1252=)
c.3787C= (p.Arg1263=)
3g.38562462G>TCA352148145SCN5Ac.3913C>A (p.Arg1305Ser)
c.3916C>A (p.Arg1306Ser)
c.3754C>A (p.Arg1252Ser)
c.3787C>A (p.Arg1263Ser)
 ClinVar dbSNP gnomAD v2
3g.38562463C>ACA433136476SCN5Ac.3912G>T (p.Leu1304=)
c.3915G>T (p.Leu1305=)
c.3753G>T (p.Leu1251=)
c.3786G>T (p.Leu1262=)
3g.38562463C=CA1358566715SCN5Ac.3912G= (p.Leu1304=)
c.3915G= (p.Leu1305=)
c.3753G= (p.Leu1251=)
c.3786G= (p.Leu1262=)
3g.38562463C>GCA433136477SCN5Ac.3912G>C (p.Leu1304=)
c.3915G>C (p.Leu1305=)
c.3753G>C (p.Leu1251=)
c.3786G>C (p.Leu1262=)
3g.38562463C>TCA72945806SCN5Ac.3912G>A (p.Leu1304=)
c.3915G>A (p.Leu1305=)
c.3753G>A (p.Leu1251=)
c.3786G>A (p.Leu1262=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38562464A>CCA352148147SCN5Ac.3911T>G (p.Leu1304Arg)
c.3914T>G (p.Leu1305Arg)
c.3752T>G (p.Leu1251Arg)
c.3785T>G (p.Leu1262Arg)
3g.38562464A>GCA352148148SCN5Ac.3911T>C (p.Leu1304Pro)
c.3914T>C (p.Leu1305Pro)
c.3752T>C (p.Leu1251Pro)
c.3785T>C (p.Leu1262Pro)
 gnomAD v4
3g.38562464A>TCA352148149SCN5Ac.3911T>A (p.Leu1304Gln)
c.3914T>A (p.Leu1305Gln)
c.3752T>A (p.Leu1251Gln)
c.3785T>A (p.Leu1262Gln)
3g.38562465G>ACA433136478SCN5Ac.3910C>T (p.Leu1304=)
c.3913C>T (p.Leu1305=)
c.3751C>T (p.Leu1251=)
c.3784C>T (p.Leu1262=)
 ClinVar dbSNP
3g.38562465G>CCA352148150SCN5Ac.3910C>G (p.Leu1304Val)
c.3913C>G (p.Leu1305Val)
c.3751C>G (p.Leu1251Val)
c.3784C>G (p.Leu1262Val)
3g.38562465G=CA1358566716SCN5Ac.3910C= (p.Leu1304=)
c.3913C= (p.Leu1305=)
c.3751C= (p.Leu1251=)
c.3784C= (p.Leu1262=)
3g.38562465G>TCA352148151SCN5Ac.3910C>A (p.Leu1304Met)
c.3913C>A (p.Leu1305Met)
c.3751C>A (p.Leu1251Met)
c.3784C>A (p.Leu1262Met)
3g.38562466C>ACA433136480SCN5Ac.3909G>T (p.Thr1303=)
c.3912G>T (p.Thr1304=)
c.3750G>T (p.Thr1250=)
c.3783G>T (p.Thr1261=)
3g.38562466C=CA1358566717SCN5Ac.3909G= (p.Thr1303=)
c.3912G= (p.Thr1304=)
c.3750G= (p.Thr1250=)
c.3783G= (p.Thr1261=)
3g.38562466C>GCA433136481SCN5Ac.3909G>C (p.Thr1303=)
c.3912G>C (p.Thr1304=)
c.3750G>C (p.Thr1250=)
c.3783G>C (p.Thr1261=)
3g.38562466C>TCA062447SCN5Ac.3909G>A (p.Thr1303=)
c.3912G>A (p.Thr1304=)
c.3750G>A (p.Thr1250=)
c.3783G>A (p.Thr1261=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38562467G>ACA017612SCN5Ac.3908C>T (p.Thr1303Met)
c.3911C>T (p.Thr1304Met)
c.3749C>T (p.Thr1250Met)
c.3782C>T (p.Thr1261Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38562467G>CCA352148152SCN5Ac.3908C>G (p.Thr1303Arg)
c.3911C>G (p.Thr1304Arg)
c.3749C>G (p.Thr1250Arg)
c.3782C>G (p.Thr1261Arg)
3g.38562467G=CA1358566718SCN5Ac.3908C= (p.Thr1303=)
c.3911C= (p.Thr1304=)
c.3749C= (p.Thr1250=)
c.3782C= (p.Thr1261=)
3g.38562467G>TCA352148153SCN5Ac.3908C>A (p.Thr1303Lys)
c.3911C>A (p.Thr1304Lys)
c.3749C>A (p.Thr1250Lys)
c.3782C>A (p.Thr1261Lys)
3g.38562468T>ACA352148154SCN5Ac.3907A>T (p.Thr1303Ser)
c.3910A>T (p.Thr1304Ser)
c.3748A>T (p.Thr1250Ser)
c.3781A>T (p.Thr1261Ser)
3g.38562468T>CCA352148155SCN5Ac.3907A>G (p.Thr1303Ala)
c.3910A>G (p.Thr1304Ala)
c.3748A>G (p.Thr1250Ala)
c.3781A>G (p.Thr1261Ala)
3g.38562468T>GCA352148156SCN5Ac.3907A>C (p.Thr1303Pro)
c.3910A>C (p.Thr1304Pro)
c.3748A>C (p.Thr1250Pro)
c.3781A>C (p.Thr1261Pro)
3g.38562469C>ACA433136482SCN5Ac.3906G>T (p.Arg1302=)
c.3909G>T (p.Arg1303=)
c.3747G>T (p.Arg1249=)
c.3780G>T (p.Arg1260=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38562469C=CA1358566719SCN5Ac.3906G= (p.Arg1302=)
c.3909G= (p.Arg1303=)
c.3747G= (p.Arg1249=)
c.3780G= (p.Arg1260=)
3g.38562469C>GCA433136484SCN5Ac.3906G>C (p.Arg1302=)
c.3909G>C (p.Arg1303=)
c.3747G>C (p.Arg1249=)
c.3780G>C (p.Arg1260=)
3g.38562469C>TCA433136486SCN5Ac.3906G>A (p.Arg1302=)
c.3909G>A (p.Arg1303=)
c.3747G>A (p.Arg1249=)
c.3780G>A (p.Arg1260=)
 gnomAD v4
3g.38562470C>ACA352148157SCN5Ac.3905G>T (p.Arg1302Leu)
c.3908G>T (p.Arg1303Leu)
c.3746G>T (p.Arg1249Leu)
c.3779G>T (p.Arg1260Leu)
3g.38562470C=CA1358566720SCN5Ac.3905G= (p.Arg1302=)
c.3908G= (p.Arg1303=)
c.3746G= (p.Arg1249=)
c.3779G= (p.Arg1260=)
3g.38562470C>GCA352148158SCN5Ac.3905G>C (p.Arg1302Pro)
c.3908G>C (p.Arg1303Pro)
c.3746G>C (p.Arg1249Pro)
c.3779G>C (p.Arg1260Pro)
3g.38562470C>TCA16042517SCN5Ac.3905G>A (p.Arg1302Gln)
c.3908G>A (p.Arg1303Gln)
c.3746G>A (p.Arg1249Gln)
c.3779G>A (p.Arg1260Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38562471G>ACA72945821SCN5Ac.3904C>T (p.Arg1302Trp)
c.3907C>T (p.Arg1303Trp)
c.3745C>T (p.Arg1249Trp)
c.3778C>T (p.Arg1260Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38562471G>CCA352148159SCN5Ac.3904C>G (p.Arg1302Gly)
c.3907C>G (p.Arg1303Gly)
c.3745C>G (p.Arg1249Gly)
c.3778C>G (p.Arg1260Gly)
3g.38562471G=CA1358566721SCN5Ac.3904C= (p.Arg1302=)
c.3907C= (p.Arg1303=)
c.3745C= (p.Arg1249=)
c.3778C= (p.Arg1260=)
3g.38562471G>TCA017605SCN5Ac.3904C>A (p.Arg1302=)
c.3907C>A (p.Arg1303=)
c.3745C>A (p.Arg1249=)
c.3778C>A (p.Arg1260=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38562472C>ACA433136487SCN5Ac.3903G>T (p.Leu1301=)
c.3906G>T (p.Leu1302=)
c.3744G>T (p.Leu1248=)
c.3777G>T (p.Leu1259=)
3g.38562472C>GCA433136488SCN5Ac.3903G>C (p.Leu1301=)
c.3906G>C (p.Leu1302=)
c.3744G>C (p.Leu1248=)
c.3777G>C (p.Leu1259=)
3g.38562472C>TCA433136489SCN5Ac.3903G>A (p.Leu1301=)
c.3906G>A (p.Leu1302=)
c.3744G>A (p.Leu1248=)
c.3777G>A (p.Leu1259=)
3g.38562473A>CCA352148160SCN5Ac.3902T>G (p.Leu1301Arg)
c.3905T>G (p.Leu1302Arg)
c.3743T>G (p.Leu1248Arg)
c.3776T>G (p.Leu1259Arg)
3g.38562473A>GCA352148161SCN5Ac.3902T>C (p.Leu1301Pro)
c.3905T>C (p.Leu1302Pro)
c.3743T>C (p.Leu1248Pro)
c.3776T>C (p.Leu1259Pro)
 ClinVar
3g.38562473A>TCA352148162SCN5Ac.3902T>A (p.Leu1301Gln)
c.3905T>A (p.Leu1302Gln)
c.3743T>A (p.Leu1248Gln)
c.3776T>A (p.Leu1259Gln)
3g.38562474G>ACA433136491SCN5Ac.3901C>T (p.Leu1301=)
c.3904C>T (p.Leu1302=)
c.3742C>T (p.Leu1248=)
c.3775C>T (p.Leu1259=)
3g.38562474G>CCA352148163SCN5Ac.3901C>G (p.Leu1301Val)
c.3904C>G (p.Leu1302Val)
c.3742C>G (p.Leu1248Val)
c.3775C>G (p.Leu1259Val)
3g.38562474G>TCA352148164SCN5Ac.3901C>A (p.Leu1301Met)
c.3904C>A (p.Leu1302Met)
c.3742C>A (p.Leu1248Met)
c.3775C>A (p.Leu1259Met)
3g.38562475T>ACA433136494SCN5Ac.3900A>T (p.Ser1300=)
c.3903A>T (p.Ser1301=)
c.3741A>T (p.Ser1247=)
c.3774A>T (p.Ser1258=)
3g.38562475T>CCA433136495SCN5Ac.3900A>G (p.Ser1300=)
c.3903A>G (p.Ser1301=)
c.3741A>G (p.Ser1247=)
c.3774A>G (p.Ser1258=)
3g.38562475T>GCA433136496SCN5Ac.3900A>C (p.Ser1300=)
c.3903A>C (p.Ser1301=)
c.3741A>C (p.Ser1247=)
c.3774A>C (p.Ser1258=)
3g.38562476_38562479dupCA2586965802SCN5Ac.3897_3900dup (p.Leu1301ValfsTer18)
c.3900_3903dup (p.Leu1302ValfsTer18)
c.3738_3741dup (p.Leu1248ValfsTer18)
c.3771_3774dup (p.Leu1259ValfsTer18)
3g.38562476G>ACA352148165SCN5Ac.3899C>T (p.Ser1300Leu)
c.3902C>T (p.Ser1301Leu)
c.3740C>T (p.Ser1247Leu)
c.3773C>T (p.Ser1258Leu)
3g.38562476G>CCA352148166SCN5Ac.3899C>G (p.Ser1300Ter)
c.3902C>G (p.Ser1301Ter)
c.3740C>G (p.Ser1247Ter)
c.3773C>G (p.Ser1258Ter)
3g.38562476G>TCA352148167SCN5Ac.3899C>A (p.Ser1300Ter)
c.3902C>A (p.Ser1301Ter)
c.3740C>A (p.Ser1247Ter)
c.3773C>A (p.Ser1258Ter)
3g.38562476_38562477delinsGACA1358566722SCN5Ac.3898_3899delinsTC (p.Ser1300=)
c.3901_3902delinsTC (p.Ser1301=)
c.3739_3740delinsTC (p.Ser1247=)
c.3772_3773delinsTC (p.Ser1258=)
3g.38562477delCA1139657975SCN5Ac.3898del (p.Ser1300HisfsTer11)
c.3901del (p.Ser1301HisfsTer11)
c.3739del (p.Ser1247HisfsTer11)
c.3772del (p.Ser1258HisfsTer11)
 ClinVar dbSNP
3g.38562477A>CCA352148168SCN5Ac.3898T>G (p.Ser1300Ala)
c.3901T>G (p.Ser1301Ala)
c.3739T>G (p.Ser1247Ala)
c.3772T>G (p.Ser1258Ala)
 gnomAD v4
3g.38562477A>GCA352148169SCN5Ac.3898T>C (p.Ser1300Pro)
c.3901T>C (p.Ser1301Pro)
c.3739T>C (p.Ser1247Pro)
c.3772T>C (p.Ser1258Pro)
3g.38562477A>TCA352148170SCN5Ac.3898T>A (p.Ser1300Thr)
c.3901T>A (p.Ser1301Thr)
c.3739T>A (p.Ser1247Thr)
c.3772T>A (p.Ser1258Thr)
3g.38562478C>ACA352148171SCN5Ac.3897G>T (p.Lys1299Asn)
c.3900G>T (p.Lys1300Asn)
c.3738G>T (p.Lys1246Asn)
c.3771G>T (p.Lys1257Asn)
3g.38562478C=CA1358566723SCN5Ac.3897G= (p.Lys1299=)
c.3900G= (p.Lys1300=)
c.3738G= (p.Lys1246=)
c.3771G= (p.Lys1257=)
3g.38562478C>GCA352148172SCN5Ac.3897G>C (p.Lys1299Asn)
c.3900G>C (p.Lys1300Asn)
c.3738G>C (p.Lys1246Asn)
c.3771G>C (p.Lys1257Asn)
3g.38562478C>TCA433136497SCN5Ac.3897G>A (p.Lys1299=)
c.3900G>A (p.Lys1300=)
c.3738G>A (p.Lys1246=)
c.3771G>A (p.Lys1257=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38562479T>ACA352148173SCN5Ac.3896A>T (p.Lys1299Met)
c.3899A>T (p.Lys1300Met)
c.3737A>T (p.Lys1246Met)
c.3770A>T (p.Lys1257Met)
3g.38562479T>CCA352148174SCN5Ac.3896A>G (p.Lys1299Arg)
c.3899A>G (p.Lys1300Arg)
c.3737A>G (p.Lys1246Arg)
c.3770A>G (p.Lys1257Arg)
3g.38562479T>GCA352148175SCN5Ac.3896A>C (p.Lys1299Thr)
c.3899A>C (p.Lys1300Thr)
c.3737A>C (p.Lys1246Thr)
c.3770A>C (p.Lys1257Thr)
3g.38562480T>ACA352148176SCN5Ac.3895A>T (p.Lys1299Ter)
c.3898A>T (p.Lys1300Ter)
c.3736A>T (p.Lys1246Ter)
c.3769A>T (p.Lys1257Ter)
 dbSNP
3g.38562480T>CCA352148177SCN5Ac.3895A>G (p.Lys1299Glu)
c.3898A>G (p.Lys1300Glu)
c.3736A>G (p.Lys1246Glu)
c.3769A>G (p.Lys1257Glu)
3g.38562480T>GCA352148178SCN5Ac.3895A>C (p.Lys1299Gln)
c.3898A>C (p.Lys1300Gln)
c.3736A>C (p.Lys1246Gln)
c.3769A>C (p.Lys1257Gln)
3g.38562480T=CA1358566724SCN5Ac.3895A= (p.Lys1299=)
c.3898A= (p.Lys1300=)
c.3736A= (p.Lys1246=)
c.3769A= (p.Lys1257=)
3g.38562481G>ACA433136499SCN5Ac.3894C>T (p.Ile1298=)
c.3897C>T (p.Ile1299=)
c.3735C>T (p.Ile1245=)
c.3768C>T (p.Ile1256=)
 ClinVar dbSNP
3g.38562481G>CCA352148179SCN5Ac.3894C>G (p.Ile1298Met)
c.3897C>G (p.Ile1299Met)
c.3735C>G (p.Ile1245Met)
c.3768C>G (p.Ile1256Met)
 ClinVar dbSNP
3g.38562481G=CA1358566725SCN5Ac.3894C= (p.Ile1298=)
c.3897C= (p.Ile1299=)
c.3735C= (p.Ile1245=)
c.3768C= (p.Ile1256=)
3g.38562481G>TCA433136500SCN5Ac.3894C>A (p.Ile1298=)
c.3897C>A (p.Ile1299=)
c.3735C>A (p.Ile1245=)
c.3768C>A (p.Ile1256=)
3g.38562482A>CCA352148180SCN5Ac.3893T>G (p.Ile1298Ser)
c.3896T>G (p.Ile1299Ser)
c.3734T>G (p.Ile1245Ser)
c.3767T>G (p.Ile1256Ser)
3g.38562482A>GCA352148181SCN5Ac.3893T>C (p.Ile1298Thr)
c.3896T>C (p.Ile1299Thr)
c.3734T>C (p.Ile1245Thr)
c.3767T>C (p.Ile1256Thr)
3g.38562482A>TCA352148182SCN5Ac.3893T>A (p.Ile1298Asn)
c.3896T>A (p.Ile1299Asn)
c.3734T>A (p.Ile1245Asn)
c.3767T>A (p.Ile1256Asn)
3g.38562483T>ACA352148183SCN5Ac.3892A>T (p.Ile1298Phe)
c.3895A>T (p.Ile1299Phe)
c.3733A>T (p.Ile1245Phe)
c.3766A>T (p.Ile1256Phe)
3g.38562483T>CCA352148184SCN5Ac.3892A>G (p.Ile1298Val)
c.3895A>G (p.Ile1299Val)
c.3733A>G (p.Ile1245Val)
c.3766A>G (p.Ile1256Val)
3g.38562483T>GCA352148185SCN5Ac.3892A>C (p.Ile1298Leu)
c.3895A>C (p.Ile1299Leu)
c.3733A>C (p.Ile1245Leu)
c.3766A>C (p.Ile1256Leu)
3g.38562484G>ACA433136507SCN5Ac.3891C>T (p.Pro1297=)
c.3894C>T (p.Pro1298=)
c.3732C>T (p.Pro1244=)
c.3765C>T (p.Pro1255=)
 gnomAD v4
3g.38562484G>CCA433136504SCN5Ac.3891C>G (p.Pro1297=)
c.3894C>G (p.Pro1298=)
c.3732C>G (p.Pro1244=)
c.3765C>G (p.Pro1255=)
3g.38562484G>TCA433136506SCN5Ac.3891C>A (p.Pro1297=)
c.3894C>A (p.Pro1298=)
c.3732C>A (p.Pro1244=)
c.3765C>A (p.Pro1255=)
3g.38562487dupCA2580069763SCN5Ac.3891dup (p.Ile1298HisfsTer20)
c.3894dup (p.Ile1299HisfsTer20)
c.3732dup (p.Ile1245HisfsTer20)
c.3765dup (p.Ile1256HisfsTer20)
 ClinVar
3g.38562487delCA2586965804SCN5Ac.3891del (p.Ile1298SerfsTer13)
c.3894del (p.Ile1299SerfsTer13)
c.3732del (p.Ile1245SerfsTer13)
c.3765del (p.Ile1256SerfsTer13)
3g.38562485G>ACA017599SCN5Ac.3890C>T (p.Pro1297Leu)
c.3893C>T (p.Pro1298Leu)
c.3731C>T (p.Pro1244Leu)
c.3764C>T (p.Pro1255Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38562485G>CCA352148187SCN5Ac.3890C>G (p.Pro1297Arg)
c.3893C>G (p.Pro1298Arg)
c.3731C>G (p.Pro1244Arg)
c.3764C>G (p.Pro1255Arg)
3g.38562485G=CA1358566726SCN5Ac.3890C= (p.Pro1297=)
c.3893C= (p.Pro1298=)
c.3731C= (p.Pro1244=)
c.3764C= (p.Pro1255=)
3g.38562485G>TCA352148186SCN5Ac.3890C>A (p.Pro1297His)
c.3893C>A (p.Pro1298His)
c.3731C>A (p.Pro1244His)
c.3764C>A (p.Pro1255His)
 COSMIC COSMIC COSMIC
3g.38562486G>ACA352148189SCN5Ac.3889C>T (p.Pro1297Ser)
c.3892C>T (p.Pro1298Ser)
c.3730C>T (p.Pro1244Ser)
c.3763C>T (p.Pro1255Ser)
 gnomAD v4
3g.38562486G>CCA352148188SCN5Ac.3889C>G (p.Pro1297Ala)
c.3892C>G (p.Pro1298Ala)
c.3730C>G (p.Pro1244Ala)
c.3763C>G (p.Pro1255Ala)
3g.38562486G>TCA352148190SCN5Ac.3889C>A (p.Pro1297Thr)
c.3892C>A (p.Pro1298Thr)
c.3730C>A (p.Pro1244Thr)
c.3763C>A (p.Pro1255Thr)
3g.38562487G>ACA72945833SCN5Ac.3888C>T (p.Gly1296=)
c.3891C>T (p.Gly1297=)
c.3729C>T (p.Gly1243=)
c.3762C>T (p.Gly1254=)
 ClinVar dbSNP gnomAD v4
3g.38562487G>CCA433136508SCN5Ac.3888C>G (p.Gly1296=)
c.3891C>G (p.Gly1297=)
c.3729C>G (p.Gly1243=)
c.3762C>G (p.Gly1254=)
3g.38562487G=CA1358566727SCN5Ac.3888C= (p.Gly1296=)
c.3891C= (p.Gly1297=)
c.3729C= (p.Gly1243=)
c.3762C= (p.Gly1254=)
3g.38562487G>TCA433136509SCN5Ac.3888C>A (p.Gly1296=)
c.3891C>A (p.Gly1297=)
c.3729C>A (p.Gly1243=)
c.3762C>A (p.Gly1254=)
 COSMIC
3g.38562487_38562488insTCA2586965807SCN5Ac.3887_3888insA (p.Ile1298HisfsTer20)
c.3890_3891insA (p.Ile1299HisfsTer20)
c.3728_3729insA (p.Ile1245HisfsTer20)
c.3761_3762insA (p.Ile1256HisfsTer20)
3g.38562488C>ACA352148193SCN5Ac.3887G>T (p.Gly1296Val)
c.3890G>T (p.Gly1297Val)
c.3728G>T (p.Gly1243Val)
c.3761G>T (p.Gly1254Val)
 COSMIC COSMIC COSMIC
3g.38562488C=CA1358566728SCN5Ac.3887G= (p.Gly1296=)
c.3890G= (p.Gly1297=)
c.3728G= (p.Gly1243=)
c.3761G= (p.Gly1254=)
3g.38562488C>GCA352148191SCN5Ac.3887G>C (p.Gly1296Ala)
c.3890G>C (p.Gly1297Ala)
c.3728G>C (p.Gly1243Ala)
c.3761G>C (p.Gly1254Ala)
3g.38562488C>TCA352148192SCN5Ac.3887G>A (p.Gly1296Asp)
c.3890G>A (p.Gly1297Asp)
c.3728G>A (p.Gly1243Asp)
c.3761G>A (p.Gly1254Asp)
 dbSNP gnomAD v2 gnomAD v4
3g.38562489C>ACA352148194SCN5Ac.3886G>T (p.Gly1296Cys)
c.3889G>T (p.Gly1297Cys)
c.3727G>T (p.Gly1243Cys)
c.3760G>T (p.Gly1254Cys)
3g.38562489C>GCA352148195SCN5Ac.3886G>C (p.Gly1296Arg)
c.3889G>C (p.Gly1297Arg)
c.3727G>C (p.Gly1243Arg)
c.3760G>C (p.Gly1254Arg)
3g.38562489C>TCA352148196SCN5Ac.3886G>A (p.Gly1296Ser)
c.3889G>A (p.Gly1297Ser)
c.3727G>A (p.Gly1243Ser)
c.3760G>A (p.Gly1254Ser)
3g.38562490C>ACA352148197SCN5Ac.3885G>T (p.Met1295Ile)
c.3888G>T (p.Met1296Ile)
c.3726G>T (p.Met1242Ile)
c.3759G>T (p.Met1253Ile)
3g.38562490C=CA1358566729SCN5Ac.3885G= (p.Met1295=)
c.3888G= (p.Met1296=)
c.3726G= (p.Met1242=)
c.3759G= (p.Met1253=)
3g.38562490C>GCA352148198SCN5Ac.3885G>C (p.Met1295Ile)
c.3888G>C (p.Met1296Ile)
c.3726G>C (p.Met1242Ile)
c.3759G>C (p.Met1253Ile)
3g.38562490C>TCA352148199SCN5Ac.3885G>A (p.Met1295Ile)
c.3888G>A (p.Met1296Ile)
c.3726G>A (p.Met1242Ile)
c.3759G>A (p.Met1253Ile)
 dbSNP gnomAD v3 gnomAD v4
3g.38562491A=CA1358566730SCN5Ac.3884T= (p.Met1295=)
c.3887T= (p.Met1296=)
c.3725T= (p.Met1242=)
c.3758T= (p.Met1253=)
3g.38562491A>CCA352148200SCN5Ac.3884T>G (p.Met1295Arg)
c.3887T>G (p.Met1296Arg)
c.3725T>G (p.Met1242Arg)
c.3758T>G (p.Met1253Arg)
3g.38562491A>GCA062435SCN5Ac.3884T>C (p.Met1295Thr)
c.3887T>C (p.Met1296Thr)
c.3725T>C (p.Met1242Thr)
c.3758T>C (p.Met1253Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38562491A>TCA352148201SCN5Ac.3884T>A (p.Met1295Lys)
c.3887T>A (p.Met1296Lys)
c.3725T>A (p.Met1242Lys)
c.3758T>A (p.Met1253Lys)
3g.38562491dupCA2586965809SCN5Ac.3884dup (p.Met1295IlefsTer23)
c.3887dup (p.Met1296IlefsTer23)
c.3725dup (p.Met1242IlefsTer23)
c.3758dup (p.Met1253IlefsTer23)
3g.38562492T>ACA352148202SCN5Ac.3883A>T (p.Met1295Leu)
c.3886A>T (p.Met1296Leu)
c.3724A>T (p.Met1242Leu)
c.3757A>T (p.Met1253Leu)
 gnomAD v4
3g.38562492T>CCA352148203SCN5Ac.3883A>G (p.Met1295Val)
c.3886A>G (p.Met1296Val)
c.3724A>G (p.Met1242Val)
c.3757A>G (p.Met1253Val)
3g.38562492T>GCA352148204SCN5Ac.3883A>C (p.Met1295Leu)
c.3886A>C (p.Met1296Leu)
c.3724A>C (p.Met1242Leu)
c.3757A>C (p.Met1253Leu)
3g.38562493C>ACA352148205SCN5Ac.3882G>T (p.Glu1294Asp)
c.3885G>T (p.Glu1295Asp)
c.3723G>T (p.Glu1241Asp)
c.3756G>T (p.Glu1252Asp)
3g.38562493C=CA1358566731SCN5Ac.3882G= (p.Glu1294=)
c.3885G= (p.Glu1295=)
c.3723G= (p.Glu1241=)
c.3756G= (p.Glu1252=)
3g.38562493C>GCA352148206SCN5Ac.3882G>C (p.Glu1294Asp)
c.3885G>C (p.Glu1295Asp)
c.3723G>C (p.Glu1241Asp)
c.3756G>C (p.Glu1252Asp)
3g.38562493C>TCA433136511SCN5Ac.3882G>A (p.Glu1294=)
c.3885G>A (p.Glu1295=)
c.3723G>A (p.Glu1241=)
c.3756G>A (p.Glu1252=)
 ClinVar dbSNP gnomAD v4
3g.38562494T>ACA352148207SCN5Ac.3881A>T (p.Glu1294Val)
c.3884A>T (p.Glu1295Val)
c.3722A>T (p.Glu1241Val)
c.3755A>T (p.Glu1252Val)
3g.38562494T>CCA352148208SCN5Ac.3881A>G (p.Glu1294Gly)
c.3884A>G (p.Glu1295Gly)
c.3722A>G (p.Glu1241Gly)
c.3755A>G (p.Glu1252Gly)
3g.38562494T>GCA352148209SCN5Ac.3881A>C (p.Glu1294Ala)
c.3884A>C (p.Glu1295Ala)
c.3722A>C (p.Glu1241Ala)
c.3755A>C (p.Glu1252Ala)
3g.38562495C>ACA352148210SCN5Ac.3880G>T (p.Glu1294Ter)
c.3883G>T (p.Glu1295Ter)
c.3721G>T (p.Glu1241Ter)
c.3754G>T (p.Glu1252Ter)
 dbSNP
3g.38562495C=CA1358566732SCN5Ac.3880G= (p.Glu1294=)
c.3883G= (p.Glu1295=)
c.3721G= (p.Glu1241=)
c.3754G= (p.Glu1252=)
3g.38562495C>GCA352148211SCN5Ac.3880G>C (p.Glu1294Gln)
c.3883G>C (p.Glu1295Gln)
c.3721G>C (p.Glu1241Gln)
c.3754G>C (p.Glu1252Gln)
3g.38562495C>TCA017593SCN5Ac.3880G>A (p.Glu1294Lys)
c.3883G>A (p.Glu1295Lys)
c.3721G>A (p.Glu1241Lys)
c.3754G>A (p.Glu1252Lys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
3g.38562496G>ACA017587SCN5Ac.3879C>T (p.Ala1293=)
c.3882C>T (p.Ala1294=)
c.3720C>T (p.Ala1240=)
c.3753C>T (p.Ala1251=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38562496G>CCA433136513SCN5Ac.3879C>G (p.Ala1293=)
c.3882C>G (p.Ala1294=)
c.3720C>G (p.Ala1240=)
c.3753C>G (p.Ala1251=)
3g.38562496G=CA1358566733SCN5Ac.3879C= (p.Ala1293=)
c.3882C= (p.Ala1294=)
c.3720C= (p.Ala1240=)
c.3753C= (p.Ala1251=)
3g.38562496G>TCA72945857SCN5Ac.3879C>A (p.Ala1293=)
c.3882C>A (p.Ala1294=)
c.3720C>A (p.Ala1240=)
c.3753C>A (p.Ala1251=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38562497G>ACA352148212SCN5Ac.3878C>T (p.Ala1293Val)
c.3881C>T (p.Ala1294Val)
c.3719C>T (p.Ala1240Val)
c.3752C>T (p.Ala1251Val)
 gnomAD v4
3g.38562497G>CCA062420SCN5Ac.3878C>G (p.Ala1293Gly)
c.3881C>G (p.Ala1294Gly)
c.3719C>G (p.Ala1240Gly)
c.3752C>G (p.Ala1251Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38562497G=CA1358566734SCN5Ac.3878C= (p.Ala1293=)
c.3881C= (p.Ala1294=)
c.3719C= (p.Ala1240=)
c.3752C= (p.Ala1251=)
3g.38562497G>TCA72945858SCN5Ac.3878C>A (p.Ala1293Asp)
c.3881C>A (p.Ala1294Asp)
c.3719C>A (p.Ala1240Asp)
c.3752C>A (p.Ala1251Asp)
 ClinVar dbSNP gnomAD v4
3g.38562498C>ACA352148213SCN5Ac.3877G>T (p.Ala1293Ser)
c.3880G>T (p.Ala1294Ser)
c.3718G>T (p.Ala1240Ser)
c.3751G>T (p.Ala1251Ser)
3g.38562498C>GCA352148214SCN5Ac.3877G>C (p.Ala1293Pro)
c.3880G>C (p.Ala1294Pro)
c.3718G>C (p.Ala1240Pro)
c.3751G>C (p.Ala1251Pro)
 gnomAD v4
3g.38562498C>TCA352148215SCN5Ac.3877G>A (p.Ala1293Thr)
c.3880G>A (p.Ala1294Thr)
c.3718G>A (p.Ala1240Thr)
c.3751G>A (p.Ala1251Thr)
 ClinVar
3g.38562499A>CCA352148216SCN5Ac.3876T>G (p.Phe1292Leu)
c.3879T>G (p.Phe1293Leu)
c.3717T>G (p.Phe1239Leu)
c.3750T>G (p.Phe1250Leu)
3g.38562499A>GCA433136515SCN5Ac.3876T>C (p.Phe1292=)
c.3879T>C (p.Phe1293=)
c.3717T>C (p.Phe1239=)
c.3750T>C (p.Phe1250=)
3g.38562499A>TCA352148217SCN5Ac.3876T>A (p.Phe1292Leu)
c.3879T>A (p.Phe1293Leu)
c.3717T>A (p.Phe1239Leu)
c.3750T>A (p.Phe1250Leu)
3g.38562500A=CA1358566735SCN5Ac.3875T= (p.Phe1292=)
c.3878T= (p.Phe1293=)
c.3716T= (p.Phe1239=)
c.3749T= (p.Phe1250=)
3g.38562500A>CCA352148218SCN5Ac.3875T>G (p.Phe1292Cys)
c.3878T>G (p.Phe1293Cys)
c.3716T>G (p.Phe1239Cys)
c.3749T>G (p.Phe1250Cys)
3g.38562500A>GCA017579SCN5Ac.3875T>C (p.Phe1292Ser)
c.3878T>C (p.Phe1293Ser)
c.3716T>C (p.Phe1239Ser)
c.3749T>C (p.Phe1250Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38562500A>TCA352148219SCN5Ac.3875T>A (p.Phe1292Tyr)
c.3878T>A (p.Phe1293Tyr)
c.3716T>A (p.Phe1239Tyr)
c.3749T>A (p.Phe1250Tyr)
3g.38562501A>CCA352148220SCN5Ac.3874T>G (p.Phe1292Val)
c.3877T>G (p.Phe1293Val)
c.3715T>G (p.Phe1239Val)
c.3748T>G (p.Phe1250Val)
3g.38562501A>GCA352148221SCN5Ac.3874T>C (p.Phe1292Leu)
c.3877T>C (p.Phe1293Leu)
c.3715T>C (p.Phe1239Leu)
c.3748T>C (p.Phe1250Leu)
3g.38562501A>TCA352148222SCN5Ac.3874T>A (p.Phe1292Ile)
c.3877T>A (p.Phe1293Ile)
c.3715T>A (p.Phe1239Ile)
c.3748T>A (p.Phe1250Ile)
3g.38562501_38562502delinsAGCA1358566736SCN5Ac.3873_3874delinsCT (p.Gly1291=)
c.3876_3877delinsCT (p.Gly1292=)
c.3714_3715delinsCT (p.Gly1238=)
c.3747_3748delinsCT (p.Gly1249=)
3g.38562502delCA658657283SCN5Ac.3873del (p.Phe1292LeufsTer19)
c.3876del (p.Phe1293LeufsTer19)
c.3714del (p.Phe1239LeufsTer19)
c.3747del (p.Phe1250LeufsTer19)
 ClinVar dbSNP
3g.38562502G>ACA433136518SCN5Ac.3873C>T (p.Gly1291=)
c.3876C>T (p.Gly1292=)
c.3714C>T (p.Gly1238=)
c.3747C>T (p.Gly1249=)
3g.38562502G>CCA433136519SCN5Ac.3873C>G (p.Gly1291=)
c.3876C>G (p.Gly1292=)
c.3714C>G (p.Gly1238=)
c.3747C>G (p.Gly1249=)
 ClinVar dbSNP
3g.38562502G=CA1358566737SCN5Ac.3873C= (p.Gly1291=)
c.3876C= (p.Gly1292=)
c.3714C= (p.Gly1238=)
c.3747C= (p.Gly1249=)
3g.38562502G>TCA433136521SCN5Ac.3873C>A (p.Gly1291=)
c.3876C>A (p.Gly1292=)
c.3714C>A (p.Gly1238=)
c.3747C>A (p.Gly1249=)
3g.38562503C>ACA352148223SCN5Ac.3872G>T (p.Gly1291Val)
c.3875G>T (p.Gly1292Val)
c.3713G>T (p.Gly1238Val)
c.3746G>T (p.Gly1249Val)
3g.38562503C=CA1358566738SCN5Ac.3872G= (p.Gly1291=)
c.3875G= (p.Gly1292=)
c.3713G= (p.Gly1238=)
c.3746G= (p.Gly1249=)
3g.38562503C>GCA352148224SCN5Ac.3872G>C (p.Gly1291Ala)
c.3875G>C (p.Gly1292Ala)
c.3713G>C (p.Gly1238Ala)
c.3746G>C (p.Gly1249Ala)
 ClinVar dbSNP
3g.38562503C>TCA352148225SCN5Ac.3872G>A (p.Gly1291Asp)
c.3875G>A (p.Gly1292Asp)
c.3713G>A (p.Gly1238Asp)
c.3746G>A (p.Gly1249Asp)
3g.38562504C>ACA352148226SCN5Ac.3871G>T (p.Gly1291Cys)
c.3874G>T (p.Gly1292Cys)
c.3712G>T (p.Gly1238Cys)
c.3745G>T (p.Gly1249Cys)
3g.38562504C=CA1358566739SCN5Ac.3871G= (p.Gly1291=)
c.3874G= (p.Gly1292=)
c.3712G= (p.Gly1238=)
c.3745G= (p.Gly1249=)
3g.38562504C>GCA352148227SCN5Ac.3871G>C (p.Gly1291Arg)
c.3874G>C (p.Gly1292Arg)
c.3712G>C (p.Gly1238Arg)
c.3745G>C (p.Gly1249Arg)
 dbSNP gnomAD v3 gnomAD v4
3g.38562504C>TCA352148228SCN5Ac.3871G>A (p.Gly1291Ser)
c.3874G>A (p.Gly1292Ser)
c.3712G>A (p.Gly1238Ser)
c.3745G>A (p.Gly1249Ser)
3g.38562505C>ACA433136522SCN5Ac.3870G>T (p.Leu1290=)
c.3873G>T (p.Leu1291=)
c.3711G>T (p.Leu1237=)
c.3744G>T (p.Leu1248=)
3g.38562505C=CA1358566740SCN5Ac.3870G= (p.Leu1290=)
c.3873G= (p.Leu1291=)
c.3711G= (p.Leu1237=)
c.3744G= (p.Leu1248=)
3g.38562505C>GCA433136523SCN5Ac.3870G>C (p.Leu1290=)
c.3873G>C (p.Leu1291=)
c.3711G>C (p.Leu1237=)
c.3744G>C (p.Leu1248=)
3g.38562505C>TCA017574SCN5Ac.3870G>A (p.Leu1290=)
c.3873G>A (p.Leu1291=)
c.3711G>A (p.Leu1237=)
c.3744G>A (p.Leu1248=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38562506A>CCA352148230SCN5Ac.3869T>G (p.Leu1290Arg)
c.3872T>G (p.Leu1291Arg)
c.3710T>G (p.Leu1237Arg)
c.3743T>G (p.Leu1248Arg)
3g.38562506A>GCA352148231SCN5Ac.3869T>C (p.Leu1290Pro)
c.3872T>C (p.Leu1291Pro)
c.3710T>C (p.Leu1237Pro)
c.3743T>C (p.Leu1248Pro)
3g.38562506A>TCA352148229SCN5Ac.3869T>A (p.Leu1290Gln)
c.3872T>A (p.Leu1291Gln)
c.3710T>A (p.Leu1237Gln)
c.3743T>A (p.Leu1248Gln)
3g.38562507G>ACA433136524SCN5Ac.3868C>T (p.Leu1290=)
c.3871C>T (p.Leu1291=)
c.3709C>T (p.Leu1237=)
c.3742C>T (p.Leu1248=)
 gnomAD v4
3g.38562507G>CCA352148232SCN5Ac.3868C>G (p.Leu1290Val)
c.3871C>G (p.Leu1291Val)
c.3709C>G (p.Leu1237Val)
c.3742C>G (p.Leu1248Val)
 ClinVar dbSNP
3g.38562507G>TCA352148233SCN5Ac.3868C>A (p.Leu1290Met)
c.3871C>A (p.Leu1291Met)
c.3709C>A (p.Leu1237Met)
c.3742C>A (p.Leu1248Met)
3g.38562508G>ACA433136526SCN5Ac.3867C>T (p.Thr1289=)
c.3870C>T (p.Thr1290=)
c.3708C>T (p.Thr1236=)
c.3741C>T (p.Thr1247=)
3g.38562508G>CCA433136528SCN5Ac.3867C>G (p.Thr1289=)
c.3870C>G (p.Thr1290=)
c.3708C>G (p.Thr1236=)
c.3741C>G (p.Thr1247=)
3g.38562508G>TCA433136529SCN5Ac.3867C>A (p.Thr1289=)
c.3870C>A (p.Thr1290=)
c.3708C>A (p.Thr1236=)
c.3741C>A (p.Thr1247=)
3g.38562509G>ACA352148234SCN5Ac.3866C>T (p.Thr1289Ile)
c.3869C>T (p.Thr1290Ile)
c.3707C>T (p.Thr1236Ile)
c.3740C>T (p.Thr1247Ile)
 ClinVar dbSNP
3g.38562509G>CCA352148235SCN5Ac.3866C>G (p.Thr1289Ser)
c.3869C>G (p.Thr1290Ser)
c.3707C>G (p.Thr1236Ser)
c.3740C>G (p.Thr1247Ser)
3g.38562509G>TCA352148236SCN5Ac.3866C>A (p.Thr1289Asn)
c.3869C>A (p.Thr1290Asn)
c.3707C>A (p.Thr1236Asn)
c.3740C>A (p.Thr1247Asn)
 gnomAD v4
3g.38562510T>ACA352148239SCN5Ac.3865A>T (p.Thr1289Ser)
c.3868A>T (p.Thr1290Ser)
c.3706A>T (p.Thr1236Ser)
c.3739A>T (p.Thr1247Ser)
3g.38562510T>CCA352148237SCN5Ac.3865A>G (p.Thr1289Ala)
c.3868A>G (p.Thr1290Ala)
c.3706A>G (p.Thr1236Ala)
c.3739A>G (p.Thr1247Ala)
3g.38562510T>GCA352148238SCN5Ac.3865A>C (p.Thr1289Pro)
c.3868A>C (p.Thr1290Pro)
c.3706A>C (p.Thr1236Pro)
c.3739A>C (p.Thr1247Pro)
3g.38562511G>ACA433136532SCN5Ac.3864C>T (p.Asn1288=)
c.3867C>T (p.Asn1289=)
c.3705C>T (p.Asn1235=)
c.3738C>T (p.Asn1246=)
 ClinVar dbSNP
3g.38562511G>CCA352148240SCN5Ac.3864C>G (p.Asn1288Lys)
c.3867C>G (p.Asn1289Lys)
c.3705C>G (p.Asn1235Lys)
c.3738C>G (p.Asn1246Lys)
3g.38562511G>TCA352148241SCN5Ac.3864C>A (p.Asn1288Lys)
c.3867C>A (p.Asn1289Lys)
c.3705C>A (p.Asn1235Lys)
c.3738C>A (p.Asn1246Lys)
3g.38562512T>ACA352148242SCN5Ac.3863A>T (p.Asn1288Ile)
c.3866A>T (p.Asn1289Ile)
c.3704A>T (p.Asn1235Ile)
c.3737A>T (p.Asn1246Ile)
 gnomAD v4
3g.38562512T>CCA352148243SCN5Ac.3863A>G (p.Asn1288Ser)
c.3866A>G (p.Asn1289Ser)
c.3704A>G (p.Asn1235Ser)
c.3737A>G (p.Asn1246Ser)
3g.38562512T>GCA352148244SCN5Ac.3863A>C (p.Asn1288Thr)
c.3866A>C (p.Asn1289Thr)
c.3704A>C (p.Asn1235Thr)
c.3737A>C (p.Asn1246Thr)
3g.38562513T>ACA352148245SCN5Ac.3862A>T (p.Asn1288Tyr)
c.3865A>T (p.Asn1289Tyr)
c.3703A>T (p.Asn1235Tyr)
c.3736A>T (p.Asn1246Tyr)
3g.38562513T>CCA352148247SCN5Ac.3862A>G (p.Asn1288Asp)
c.3865A>G (p.Asn1289Asp)
c.3703A>G (p.Asn1235Asp)
c.3736A>G (p.Asn1246Asp)
 ClinVar dbSNP
3g.38562513T>GCA352148246SCN5Ac.3862A>C (p.Asn1288His)
c.3865A>C (p.Asn1289His)
c.3703A>C (p.Asn1235His)
c.3736A>C (p.Asn1246His)
 gnomAD v4
3g.38562513T=CA1358566741SCN5Ac.3862A= (p.Asn1288=)
c.3865A= (p.Asn1289=)
c.3703A= (p.Asn1235=)
c.3736A= (p.Asn1246=)
3g.38562514G>ACA433136536SCN5Ac.3861C>T (p.Ala1287=)
c.3864C>T (p.Ala1288=)
c.3702C>T (p.Ala1234=)
c.3735C>T (p.Ala1245=)
3g.38562514G>CCA433136537SCN5Ac.3861C>G (p.Ala1287=)
c.3864C>G (p.Ala1288=)
c.3702C>G (p.Ala1234=)
c.3735C>G (p.Ala1245=)
 gnomAD v4
3g.38562514G>TCA433136538SCN5Ac.3861C>A (p.Ala1287=)
c.3864C>A (p.Ala1288=)
c.3702C>A (p.Ala1234=)
c.3735C>A (p.Ala1245=)
3g.38562515G>ACA352148248SCN5Ac.3860C>T (p.Ala1287Val)
c.3863C>T (p.Ala1288Val)
c.3701C>T (p.Ala1234Val)
c.3734C>T (p.Ala1245Val)
3g.38562515G>CCA017568SCN5Ac.3860C>G (p.Ala1287Gly)
c.3863C>G (p.Ala1288Gly)
c.3701C>G (p.Ala1234Gly)
c.3734C>G (p.Ala1245Gly)
 ClinVar dbSNP
3g.38562515G=CA1358566742SCN5Ac.3860C= (p.Ala1287=)
c.3863C= (p.Ala1288=)
c.3701C= (p.Ala1234=)
c.3734C= (p.Ala1245=)
3g.38562515G>TCA352148249SCN5Ac.3860C>A (p.Ala1287Asp)
c.3863C>A (p.Ala1288Asp)
c.3701C>A (p.Ala1234Asp)
c.3734C>A (p.Ala1245Asp)
3g.38562516C>ACA352148250SCN5Ac.3859G>T (p.Ala1287Ser)
c.3862G>T (p.Ala1288Ser)
c.3700G>T (p.Ala1234Ser)
c.3733G>T (p.Ala1245Ser)
3g.38562516C>GCA352148251SCN5Ac.3859G>C (p.Ala1287Pro)
c.3862G>C (p.Ala1288Pro)
c.3700G>C (p.Ala1234Pro)
c.3733G>C (p.Ala1245Pro)
3g.38562516C>TCA352148252SCN5Ac.3859G>A (p.Ala1287Thr)
c.3862G>A (p.Ala1288Thr)
c.3700G>A (p.Ala1234Thr)
c.3733G>A (p.Ala1245Thr)
3g.38562517C>ACA433136540SCN5Ac.3858G>T (p.Val1286=)
c.3861G>T (p.Val1287=)
c.3699G>T (p.Val1233=)
c.3732G>T (p.Val1244=)
3g.38562517C>GCA433136543SCN5Ac.3858G>C (p.Val1286=)
c.3861G>C (p.Val1287=)
c.3699G>C (p.Val1233=)
c.3732G>C (p.Val1244=)
3g.38562517C>TCA433136542SCN5Ac.3858G>A (p.Val1286=)
c.3861G>A (p.Val1287=)
c.3699G>A (p.Val1233=)
c.3732G>A (p.Val1244=)
 gnomAD v4
3g.38562518A=CA1358566743SCN5Ac.3857T= (p.Val1286=)
c.3860T= (p.Val1287=)
c.3698T= (p.Val1233=)
c.3731T= (p.Val1244=)
3g.38562518A>CCA352148253SCN5Ac.3857T>G (p.Val1286Gly)
c.3860T>G (p.Val1287Gly)
c.3698T>G (p.Val1233Gly)
c.3731T>G (p.Val1244Gly)
3g.38562518A>GCA352148254SCN5Ac.3857T>C (p.Val1286Ala)
c.3860T>C (p.Val1287Ala)
c.3698T>C (p.Val1233Ala)
c.3731T>C (p.Val1244Ala)
 ClinVar dbSNP
3g.38562518A>TCA352148255SCN5Ac.3857T>A (p.Val1286Glu)
c.3860T>A (p.Val1287Glu)
c.3698T>A (p.Val1233Glu)
c.3731T>A (p.Val1244Glu)
3g.38562519C>ACA352148256SCN5Ac.3856G>T (p.Val1286Leu)
c.3859G>T (p.Val1287Leu)
c.3697G>T (p.Val1233Leu)
c.3730G>T (p.Val1244Leu)
 COSMIC
3g.38562519C>GCA352148257SCN5Ac.3856G>C (p.Val1286Leu)
c.3859G>C (p.Val1287Leu)
c.3697G>C (p.Val1233Leu)
c.3730G>C (p.Val1244Leu)
3g.38562519C>TCA352148258SCN5Ac.3856G>A (p.Val1286Met)
c.3859G>A (p.Val1287Met)
c.3697G>A (p.Val1233Met)
c.3730G>A (p.Val1244Met)
 gnomAD v4
3g.38562520C>ACA433136544SCN5Ac.3855G>T (p.Leu1285=)
c.3858G>T (p.Leu1286=)
c.3696G>T (p.Leu1232=)
c.3729G>T (p.Leu1243=)
 COSMIC COSMIC COSMIC
3g.38562520C=CA1358566744SCN5Ac.3855G= (p.Leu1285=)
c.3858G= (p.Leu1286=)
c.3696G= (p.Leu1232=)
c.3729G= (p.Leu1243=)
3g.38562520C>GCA433136545SCN5Ac.3855G>C (p.Leu1285=)
c.3858G>C (p.Leu1286=)
c.3696G>C (p.Leu1232=)
c.3729G>C (p.Leu1243=)
 gnomAD v4
3g.38562520C>TCA433136546SCN5Ac.3855G>A (p.Leu1285=)
c.3858G>A (p.Leu1286=)
c.3696G>A (p.Leu1232=)
c.3729G>A (p.Leu1243=)
 ClinVar dbSNP gnomAD v4
3g.38562521A>CCA352148259SCN5Ac.3854T>G (p.Leu1285Arg)
c.3857T>G (p.Leu1286Arg)
c.3695T>G (p.Leu1232Arg)
c.3728T>G (p.Leu1243Arg)
3g.38562521A>GCA352148260SCN5Ac.3854T>C (p.Leu1285Pro)
c.3857T>C (p.Leu1286Pro)
c.3695T>C (p.Leu1232Pro)
c.3728T>C (p.Leu1243Pro)
3g.38562521A>TCA352148261SCN5Ac.3854T>A (p.Leu1285Gln)
c.3857T>A (p.Leu1286Gln)
c.3695T>A (p.Leu1232Gln)
c.3728T>A (p.Leu1243Gln)
3g.38562522G>ACA433136548SCN5Ac.3853C>T (p.Leu1285=)
c.3856C>T (p.Leu1286=)
c.3694C>T (p.Leu1232=)
c.3727C>T (p.Leu1243=)
 ClinVar dbSNP
3g.38562522G>CCA352148263SCN5Ac.3853C>G (p.Leu1285Val)
c.3856C>G (p.Leu1286Val)
c.3694C>G (p.Leu1232Val)
c.3727C>G (p.Leu1243Val)
3g.38562522G=CA1358566745SCN5Ac.3853C= (p.Leu1285=)
c.3856C= (p.Leu1286=)
c.3694C= (p.Leu1232=)
c.3727C= (p.Leu1243=)
3g.38562522G>TCA352148262SCN5Ac.3853C>A (p.Leu1285Met)
c.3856C>A (p.Leu1286Met)
c.3694C>A (p.Leu1232Met)
c.3727C>A (p.Leu1243Met)
3g.38562523G>ACA433136549SCN5Ac.3852C>T (p.Ser1284=)
c.3855C>T (p.Ser1285=)
c.3693C>T (p.Ser1231=)
c.3726C>T (p.Ser1242=)
 dbSNP gnomAD v2
3g.38562523G>CCA352148264SCN5Ac.3852C>G (p.Ser1284Arg)
c.3855C>G (p.Ser1285Arg)
c.3693C>G (p.Ser1231Arg)
c.3726C>G (p.Ser1242Arg)
3g.38562523G=CA1358566746SCN5Ac.3852C= (p.Ser1284=)
c.3855C= (p.Ser1285=)
c.3693C= (p.Ser1231=)
c.3726C= (p.Ser1242=)
3g.38562523G>TCA352148265SCN5Ac.3852C>A (p.Ser1284Arg)
c.3855C>A (p.Ser1285Arg)
c.3693C>A (p.Ser1231Arg)
c.3726C>A (p.Ser1242Arg)
3g.38562524C>ACA352148266SCN5Ac.3851G>T (p.Ser1284Ile)
c.3854G>T (p.Ser1285Ile)
c.3692G>T (p.Ser1231Ile)
c.3725G>T (p.Ser1242Ile)
3g.38562524C>GCA352148267SCN5Ac.3851G>C (p.Ser1284Thr)
c.3854G>C (p.Ser1285Thr)
c.3692G>C (p.Ser1231Thr)
c.3725G>C (p.Ser1242Thr)
3g.38562524C>TCA352148268SCN5Ac.3851G>A (p.Ser1284Asn)
c.3854G>A (p.Ser1285Asn)
c.3692G>A (p.Ser1231Asn)
c.3725G>A (p.Ser1242Asn)
3g.38562525T>ACA352148269SCN5Ac.3850A>T (p.Ser1284Cys)
c.3853A>T (p.Ser1285Cys)
c.3691A>T (p.Ser1231Cys)
c.3724A>T (p.Ser1242Cys)
3g.38562525T>CCA352148270SCN5Ac.3850A>G (p.Ser1284Gly)
c.3853A>G (p.Ser1285Gly)
c.3691A>G (p.Ser1231Gly)
c.3724A>G (p.Ser1242Gly)
3g.38562525T>GCA352148271SCN5Ac.3850A>C (p.Ser1284Arg)
c.3853A>C (p.Ser1285Arg)
c.3691A>C (p.Ser1231Arg)
c.3724A>C (p.Ser1242Arg)
3g.38562526G>ACA433136554SCN5Ac.3849C>T (p.Val1283=)
c.3852C>T (p.Val1284=)
c.3690C>T (p.Val1230=)
c.3723C>T (p.Val1241=)
 ClinVar gnomAD v4
3g.38562526G>CCA433136552SCN5Ac.3849C>G (p.Val1283=)
c.3852C>G (p.Val1284=)
c.3690C>G (p.Val1230=)
c.3723C>G (p.Val1241=)
3g.38562526G>TCA433136553SCN5Ac.3849C>A (p.Val1283=)
c.3852C>A (p.Val1284=)
c.3690C>A (p.Val1230=)
c.3723C>A (p.Val1241=)
 gnomAD v4
3g.38562527A=CA1358566747SCN5Ac.3848T= (p.Val1283=)
c.3851T= (p.Val1284=)
c.3689T= (p.Val1230=)
c.3722T= (p.Val1241=)
3g.38562527A>CCA352148272SCN5Ac.3848T>G (p.Val1283Gly)
c.3851T>G (p.Val1284Gly)
c.3689T>G (p.Val1230Gly)
c.3722T>G (p.Val1241Gly)
3g.38562527A>GCA352148273SCN5Ac.3848T>C (p.Val1283Ala)
c.3851T>C (p.Val1284Ala)
c.3689T>C (p.Val1230Ala)
c.3722T>C (p.Val1241Ala)
3g.38562527A>TCA352148274SCN5Ac.3848T>A (p.Val1283Asp)
c.3851T>A (p.Val1284Asp)
c.3689T>A (p.Val1230Asp)
c.3722T>A (p.Val1241Asp)
 dbSNP gnomAD v4
3g.38562528C>ACA352148277SCN5Ac.3847G>T (p.Val1283Phe)
c.3850G>T (p.Val1284Phe)
c.3688G>T (p.Val1230Phe)
c.3721G>T (p.Val1241Phe)
3g.38562528C>GCA352148276SCN5Ac.3847G>C (p.Val1283Leu)
c.3850G>C (p.Val1284Leu)
c.3688G>C (p.Val1230Leu)
c.3721G>C (p.Val1241Leu)
3g.38562528C>TCA352148275SCN5Ac.3847G>A (p.Val1283Ile)
c.3850G>A (p.Val1284Ile)
c.3688G>A (p.Val1230Ile)
c.3721G>A (p.Val1241Ile)
3g.38562529C>ACA433136557SCN5Ac.3846G>T (p.Leu1282=)
c.3849G>T (p.Leu1283=)
c.3687G>T (p.Leu1229=)
c.3720G>T (p.Leu1240=)
3g.38562529C>GCA433136558SCN5Ac.3846G>C (p.Leu1282=)
c.3849G>C (p.Leu1283=)
c.3687G>C (p.Leu1229=)
c.3720G>C (p.Leu1240=)
3g.38562529C>TCA433136559SCN5Ac.3846G>A (p.Leu1282=)
c.3849G>A (p.Leu1283=)
c.3687G>A (p.Leu1229=)
c.3720G>A (p.Leu1240=)
3g.38562529_38562531delinsCAGCA1358566748SCN5Ac.3844_3846delinsCTG (p.Leu1282=)
c.3847_3849delinsCTG (p.Leu1283=)
c.3685_3687delinsCTG (p.Leu1229=)
c.3718_3720delinsCTG (p.Leu1240=)
3g.38562530A>CCA352148278SCN5Ac.3845T>G (p.Leu1282Arg)
c.3848T>G (p.Leu1283Arg)
c.3686T>G (p.Leu1229Arg)
c.3719T>G (p.Leu1240Arg)
3g.38562530A>GCA352148279SCN5Ac.3845T>C (p.Leu1282Pro)
c.3848T>C (p.Leu1283Pro)
c.3686T>C (p.Leu1229Pro)
c.3719T>C (p.Leu1240Pro)
3g.38562530A>TCA352148280SCN5Ac.3845T>A (p.Leu1282Gln)
c.3848T>A (p.Leu1283Gln)
c.3686T>A (p.Leu1229Gln)
c.3719T>A (p.Leu1240Gln)
3g.38562535_38562536delCA916079922SCN5Ac.3844_3845del (p.Leu1282GlyfsTer?)
c.3847_3848del (p.Leu1283GlyfsTer?)
c.3685_3686del (p.Leu1229GlyfsTer?)
c.3718_3719del (p.Leu1240GlyfsTer?)
 ClinVar dbSNP
3g.38562531G>ACA062398SCN5Ac.3844C>T (p.Leu1282=)
c.3847C>T (p.Leu1283=)
c.3685C>T (p.Leu1229=)
c.3718C>T (p.Leu1240=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38562531G>CCA352148281SCN5Ac.3844C>G (p.Leu1282Val)
c.3847C>G (p.Leu1283Val)
c.3685C>G (p.Leu1229Val)
c.3718C>G (p.Leu1240Val)
 gnomAD v4
3g.38562531G=CA1358566749SCN5Ac.3844C= (p.Leu1282=)
c.3847C= (p.Leu1283=)
c.3685C= (p.Leu1229=)
c.3718C= (p.Leu1240=)
3g.38562531G>TCA017562SCN5Ac.3844C>A (p.Leu1282Met)
c.3847C>A (p.Leu1283Met)
c.3685C>A (p.Leu1229Met)
c.3718C>A (p.Leu1240Met)
 ClinVar dbSNP gnomAD v4
3g.38562532A=CA1358566750SCN5Ac.3843T= (p.Ser1281=)
c.3846T= (p.Ser1282=)
c.3684T= (p.Ser1228=)
c.3717T= (p.Ser1239=)
3g.38562532A>CCA433136565SCN5Ac.3843T>G (p.Ser1281=)
c.3846T>G (p.Ser1282=)
c.3684T>G (p.Ser1228=)
c.3717T>G (p.Ser1239=)
3g.38562532A>GCA433136564SCN5Ac.3843T>C (p.Ser1281=)
c.3846T>C (p.Ser1282=)
c.3684T>C (p.Ser1228=)
c.3717T>C (p.Ser1239=)
 dbSNP
3g.38562532A>TCA433136566SCN5Ac.3843T>A (p.Ser1281=)
c.3846T>A (p.Ser1282=)
c.3684T>A (p.Ser1228=)
c.3717T>A (p.Ser1239=)
3g.38562533G>ACA352148282SCN5Ac.3842C>T (p.Ser1281Phe)
c.3845C>T (p.Ser1282Phe)
c.3683C>T (p.Ser1228Phe)
c.3716C>T (p.Ser1239Phe)
3g.38562533G>CCA352148283SCN5Ac.3842C>G (p.Ser1281Cys)
c.3845C>G (p.Ser1282Cys)
c.3683C>G (p.Ser1228Cys)
c.3716C>G (p.Ser1239Cys)
3g.38562533G>TCA352148284SCN5Ac.3842C>A (p.Ser1281Tyr)
c.3845C>A (p.Ser1282Tyr)
c.3683C>A (p.Ser1228Tyr)
c.3716C>A (p.Ser1239Tyr)

Number of alleles fetched