Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
ClinVar
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)
3g.38562534A=CA1358566751SCN5Ac.3841T= (p.Ser1281=)
c.3844T= (p.Ser1282=)
c.3682T= (p.Ser1228=)
c.3715T= (p.Ser1239=)
3g.38562534A>CCA352148285SCN5Ac.3841T>G (p.Ser1281Ala)
c.3844T>G (p.Ser1282Ala)
c.3682T>G (p.Ser1228Ala)
c.3715T>G (p.Ser1239Ala)
dbSNP gnomAD v4
3g.38562534A>GCA352148286SCN5Ac.3841T>C (p.Ser1281Pro)
c.3844T>C (p.Ser1282Pro)
c.3682T>C (p.Ser1228Pro)
c.3715T>C (p.Ser1239Pro)
3g.38562534A>TCA352148287SCN5Ac.3841T>A (p.Ser1281Thr)
c.3844T>A (p.Ser1282Thr)
c.3682T>A (p.Ser1228Thr)
c.3715T>A (p.Ser1239Thr)
3g.38562535G>ACA433136570SCN5Ac.3840C>T (p.Val1280=)
c.3843C>T (p.Val1281=)
c.3681C>T (p.Val1227=)
c.3714C>T (p.Val1238=)
3g.38562535G>CCA433136571SCN5Ac.3840C>G (p.Val1280=)
c.3843C>G (p.Val1281=)
c.3681C>G (p.Val1227=)
c.3714C>G (p.Val1238=)
3g.38562535G>TCA433136572SCN5Ac.3840C>A (p.Val1280=)
c.3843C>A (p.Val1281=)
c.3681C>A (p.Val1227=)
c.3714C>A (p.Val1238=)
COSMIC COSMIC COSMIC
3g.38562536A>CCA352148290SCN5Ac.3839T>G (p.Val1280Gly)
c.3842T>G (p.Val1281Gly)
c.3680T>G (p.Val1227Gly)
c.3713T>G (p.Val1238Gly)
3g.38562536A>GCA352148289SCN5Ac.3839T>C (p.Val1280Ala)
c.3842T>C (p.Val1281Ala)
c.3680T>C (p.Val1227Ala)
c.3713T>C (p.Val1238Ala)
gnomAD v4
3g.38562536A>TCA352148288SCN5Ac.3839T>A (p.Val1280Asp)
c.3842T>A (p.Val1281Asp)
c.3680T>A (p.Val1227Asp)
c.3713T>A (p.Val1238Asp)
3g.38562537C>ACA017557SCN5Ac.3838G>T (p.Val1280Phe)
c.3841G>T (p.Val1281Phe)
c.3679G>T (p.Val1227Phe)
c.3712G>T (p.Val1238Phe)
ClinVar dbSNP COSMIC
3g.38562537C=CA1358566752SCN5Ac.3838G= (p.Val1280=)
c.3841G= (p.Val1281=)
c.3679G= (p.Val1227=)
c.3712G= (p.Val1238=)
3g.38562537C>GCA352148291SCN5Ac.3838G>C (p.Val1280Leu)
c.3841G>C (p.Val1281Leu)
c.3679G>C (p.Val1227Leu)
c.3712G>C (p.Val1238Leu)
ClinVar dbSNP
3g.38562537C>TCA352148292SCN5Ac.3838G>A (p.Val1280Ile)
c.3841G>A (p.Val1281Ile)
c.3679G>A (p.Val1227Ile)
c.3712G>A (p.Val1238Ile)
dbSNP gnomAD v4
3g.38562537_38562538insGTCTACGATGAGGAAGTCGAGCCAGCACCAGGCATTGGTGAAGTACTTCTTGAAGCCGTAGGCCACCCACTTGAGCAGCA542270481SCN5Ac.3838-1_3838insCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC (n.3838-1_3838insCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC)
c.3841-1_3841insCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC (n.3841-1_3841insCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC)
c.3679-1_3679insCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC (n.3679-1_3679insCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC)
c.3712-1_3712insCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC (n.3712-1_3712insCTGCTCAAGTGGGTGGCCTACGGCTTCAAGAAGTACTTCACCAATGCCTGGTGCTGGCTCGACTTCCTCATCGTAGAC)
gnomAD v2
3g.38562538C>ACA352148293SCN5Ac.3838-1G>T (n.3838-1G>T)
c.3841-1G>T (n.3841-1G>T)
c.3679-1G>T (n.3679-1G>T)
c.3712-1G>T (n.3712-1G>T)
3g.38562538C=CA1358566753SCN5Ac.3838-1G= (n.3838-1G=)
c.3841-1G= (n.3841-1G=)
c.3679-1G= (n.3679-1G=)
c.3712-1G= (n.3712-1G=)
3g.38562538C>GCA352148294SCN5Ac.3838-1G>C (n.3838-1G>C)
c.3841-1G>C (n.3841-1G>C)
c.3679-1G>C (n.3679-1G>C)
c.3712-1G>C (n.3712-1G>C)
dbSNP
3g.38562538C>TCA352148295SCN5Ac.3838-1G>A (n.3838-1G>A)
c.3841-1G>A (n.3841-1G>A)
c.3679-1G>A (n.3679-1G>A)
c.3712-1G>A (n.3712-1G>A)
3g.38562539T>ACA352148296SCN5Ac.3838-2A>T (n.3838-2A>T)
c.3841-2A>T (n.3841-2A>T)
c.3679-2A>T (n.3679-2A>T)
c.3712-2A>T (n.3712-2A>T)
ClinVar
3g.38562539T>CCA352148297SCN5Ac.3838-2A>G (n.3838-2A>G)
c.3841-2A>G (n.3841-2A>G)
c.3679-2A>G (n.3679-2A>G)
c.3712-2A>G (n.3712-2A>G)
3g.38562539T>GCA352148298SCN5Ac.3838-2A>C (n.3838-2A>C)
c.3841-2A>C (n.3841-2A>C)
c.3679-2A>C (n.3679-2A>C)
c.3712-2A>C (n.3712-2A>C)
3g.38562540G>CCA72945889SCN5Ac.3838-3C>G (n.3838-3C>G)
c.3841-3C>G (n.3841-3C>G)
c.3679-3C>G (n.3679-3C>G)
c.3712-3C>G (n.3712-3C>G)
dbSNP
3g.38562540G=CA1358566754SCN5Ac.3838-3C= (n.3838-3C=)
c.3841-3C= (n.3841-3C=)
c.3679-3C= (n.3679-3C=)
c.3712-3C= (n.3712-3C=)
3g.38562544dupCA2665111728SCN5Ac.3838-3dup (n.3838-3dup)
c.3841-3dup (n.3841-3dup)
c.3679-3dup (n.3679-3dup)
c.3712-3dup (n.3712-3dup)
gnomAD v4
3g.38562541G>TCA2511263719SCN5Ac.3838-4C>A (n.3838-4C>A)
c.3841-4C>A (n.3841-4C>A)
c.3679-4C>A (n.3679-4C>A)
c.3712-4C>A (n.3712-4C>A)
3g.38562542G>ACA2577553162SCN5Ac.3838-5C>T (n.3838-5C>T)
c.3841-5C>T (n.3841-5C>T)
c.3679-5C>T (n.3679-5C>T)
c.3712-5C>T (n.3712-5C>T)
3g.38562542G>TCA2702486504SCN5Ac.3838-5C>A (n.3838-5C>A)
c.3841-5C>A (n.3841-5C>A)
c.3679-5C>A (n.3679-5C>A)
c.3712-5C>A (n.3712-5C>A)
dbSNP
3g.38562543G>ACA2665111729SCN5Ac.3838-6C>T (n.3838-6C>T)
c.3841-6C>T (n.3841-6C>T)
c.3679-6C>T (n.3679-6C>T)
c.3712-6C>T (n.3712-6C>T)
gnomAD v4
3g.38562544G>ACA2530525865SCN5Ac.3838-7C>T (n.3838-7C>T)
c.3841-7C>T (n.3841-7C>T)
c.3679-7C>T (n.3679-7C>T)
c.3712-7C>T (n.3712-7C>T)
3g.38562544G>CCA645530250SCN5Ac.3838-7C>G (n.3838-7C>G)
c.3841-7C>G (n.3841-7C>G)
c.3679-7C>G (n.3679-7C>G)
c.3712-7C>G (n.3712-7C>G)
COSMIC COSMIC COSMIC
3g.38562544G=CA1358566755SCN5Ac.3838-7C= (n.3838-7C=)
c.3841-7C= (n.3841-7C=)
c.3679-7C= (n.3679-7C=)
c.3712-7C= (n.3712-7C=)
3g.38562544G>TCA542270482SCN5Ac.3838-7C>A (n.3838-7C>A)
c.3841-7C>A (n.3841-7C>A)
c.3679-7C>A (n.3679-7C>A)
c.3712-7C>A (n.3712-7C>A)
dbSNP gnomAD v2 gnomAD v4
3g.38562545A>GCA2665111730SCN5Ac.3838-8T>C (n.3838-8T>C)
c.3841-8T>C (n.3841-8T>C)
c.3679-8T>C (n.3679-8T>C)
c.3712-8T>C (n.3712-8T>C)
gnomAD v4
3g.38562547G>ACA542270483SCN5Ac.3838-10C>T (n.3838-10C>T)
c.3841-10C>T (n.3841-10C>T)
c.3679-10C>T (n.3679-10C>T)
c.3712-10C>T (n.3712-10C>T)
dbSNP gnomAD v2 gnomAD v4
3g.38562547G=CA1358566756SCN5Ac.3838-10C= (n.3838-10C=)
c.3841-10C= (n.3841-10C=)
c.3679-10C= (n.3679-10C=)
c.3712-10C= (n.3712-10C=)
3g.38562547G>TCA062371SCN5Ac.3838-10C>A (n.3838-10C>A)
c.3841-10C>A (n.3841-10C>A)
c.3679-10C>A (n.3679-10C>A)
c.3712-10C>A (n.3712-10C>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38562548C>TCA647831794SCN5Ac.3838-11G>A (n.3838-11G>A)
c.3841-11G>A (n.3841-11G>A)
c.3679-11G>A (n.3679-11G>A)
c.3712-11G>A (n.3712-11G>A)
gnomAD v4 COSMIC
3g.38562550A>GCA2665111731SCN5Ac.3838-13T>C (n.3838-13T>C)
c.3841-13T>C (n.3841-13T>C)
c.3679-13T>C (n.3679-13T>C)
c.3712-13T>C (n.3712-13T>C)
gnomAD v4
3g.38562551A>GCA2577553163SCN5Ac.3838-14T>C (n.3838-14T>C)
c.3841-14T>C (n.3841-14T>C)
c.3679-14T>C (n.3679-14T>C)
c.3712-14T>C (n.3712-14T>C)
3g.38562552G>ACA2573136270SCN5Ac.3838-15C>T (n.3838-15C>T)
c.3841-15C>T (n.3841-15C>T)
c.3679-15C>T (n.3679-15C>T)
c.3712-15C>T (n.3712-15C>T)
ClinVar dbSNP
3g.38562553T>CCA906901643SCN5Ac.3838-16A>G (n.3838-16A>G)
c.3841-16A>G (n.3841-16A>G)
c.3679-16A>G (n.3679-16A>G)
c.3712-16A>G (n.3712-16A>G)
dbSNP gnomAD v3 gnomAD v4
3g.38562553T=CA1358566757SCN5Ac.3838-16A= (n.3838-16A=)
c.3841-16A= (n.3841-16A=)
c.3679-16A= (n.3679-16A=)
c.3712-16A= (n.3712-16A=)
3g.38562556A=CA1358566758SCN5Ac.3838-19T= (n.3838-19T=)
c.3841-19T= (n.3841-19T=)
c.3679-19T= (n.3679-19T=)
c.3712-19T= (n.3712-19T=)
3g.38562556A>GCA1358566759SCN5Ac.3838-19T>C (n.3838-19T>C)
c.3841-19T>C (n.3841-19T>C)
c.3679-19T>C (n.3679-19T>C)
c.3712-19T>C (n.3712-19T>C)
dbSNP
3g.38562558A=CA1358566760SCN5Ac.3838-21T= (n.3838-21T=)
c.3841-21T= (n.3841-21T=)
c.3679-21T= (n.3679-21T=)
c.3712-21T= (n.3712-21T=)
3g.38562558A>GCA062374SCN5Ac.3838-21T>C (n.3838-21T>C)
c.3841-21T>C (n.3841-21T>C)
c.3679-21T>C (n.3679-21T>C)
c.3712-21T>C (n.3712-21T>C)
dbSNP ExAC gnomAD v3 gnomAD v4
3g.38562560G>ACA2665111732SCN5Ac.3838-23C>T (n.3838-23C>T)
c.3841-23C>T (n.3841-23C>T)
c.3679-23C>T (n.3679-23C>T)
c.3712-23C>T (n.3712-23C>T)
gnomAD v4
3g.38562561G>ACA062380SCN5Ac.3838-24C>T (n.3838-24C>T)
c.3841-24C>T (n.3841-24C>T)
c.3679-24C>T (n.3679-24C>T)
c.3712-24C>T (n.3712-24C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38562561G>CCA1358566762SCN5Ac.3838-24C>G (n.3838-24C>G)
c.3841-24C>G (n.3841-24C>G)
c.3679-24C>G (n.3679-24C>G)
c.3712-24C>G (n.3712-24C>G)
dbSNP
3g.38562561G=CA1358566761SCN5Ac.3838-24C= (n.3838-24C=)
c.3841-24C= (n.3841-24C=)
c.3679-24C= (n.3679-24C=)
c.3712-24C= (n.3712-24C=)
3g.38562562G>ACA906901648SCN5Ac.3838-25C>T (n.3838-25C>T)
c.3841-25C>T (n.3841-25C>T)
c.3679-25C>T (n.3679-25C>T)
c.3712-25C>T (n.3712-25C>T)
dbSNP
3g.38562562G=CA1358566763SCN5Ac.3838-25C= (n.3838-25C=)
c.3841-25C= (n.3841-25C=)
c.3679-25C= (n.3679-25C=)
c.3712-25C= (n.3712-25C=)
3g.38562564A>GCA2665111733SCN5Ac.3838-27T>C (n.3838-27T>C)
c.3841-27T>C (n.3841-27T>C)
c.3679-27T>C (n.3679-27T>C)
c.3712-27T>C (n.3712-27T>C)
gnomAD v4
3g.38562565G>ACA542270484SCN5Ac.3838-28C>T (n.3838-28C>T)
c.3841-28C>T (n.3841-28C>T)
c.3679-28C>T (n.3679-28C>T)
c.3712-28C>T (n.3712-28C>T)
dbSNP gnomAD v2 gnomAD v4
3g.38562565G=CA1358566764SCN5Ac.3838-28C= (n.3838-28C=)
c.3841-28C= (n.3841-28C=)
c.3679-28C= (n.3679-28C=)
c.3712-28C= (n.3712-28C=)
3g.38562566G>ACA2665111734SCN5Ac.3838-29C>T (n.3838-29C>T)
c.3841-29C>T (n.3841-29C>T)
c.3679-29C>T (n.3679-29C>T)
c.3712-29C>T (n.3712-29C>T)
gnomAD v4
3g.38562566G>CCA1358566766SCN5Ac.3838-29C>G (n.3838-29C>G)
c.3841-29C>G (n.3841-29C>G)
c.3679-29C>G (n.3679-29C>G)
c.3712-29C>G (n.3712-29C>G)
dbSNP
3g.38562566G=CA1358566765SCN5Ac.3838-29C= (n.3838-29C=)
c.3841-29C= (n.3841-29C=)
c.3679-29C= (n.3679-29C=)
c.3712-29C= (n.3712-29C=)
3g.38562566G>TCA2665111735SCN5Ac.3838-29C>A (n.3838-29C>A)
c.3841-29C>A (n.3841-29C>A)
c.3679-29C>A (n.3679-29C>A)
c.3712-29C>A (n.3712-29C>A)
gnomAD v4
3g.38562567A>GCA647831795SCN5Ac.3838-30T>C (n.3838-30T>C)
c.3841-30T>C (n.3841-30T>C)
c.3679-30T>C (n.3679-30T>C)
c.3712-30T>C (n.3712-30T>C)
COSMIC
3g.38562569G>ACA062382SCN5Ac.3838-32C>T (n.3838-32C>T)
c.3841-32C>T (n.3841-32C>T)
c.3679-32C>T (n.3679-32C>T)
c.3712-32C>T (n.3712-32C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38562569G=CA1358566767SCN5Ac.3838-32C= (n.3838-32C=)
c.3841-32C= (n.3841-32C=)
c.3679-32C= (n.3679-32C=)
c.3712-32C= (n.3712-32C=)
3g.38562571G>ACA2665111736SCN5Ac.3838-34C>T (n.3838-34C>T)
c.3841-34C>T (n.3841-34C>T)
c.3679-34C>T (n.3679-34C>T)
c.3712-34C>T (n.3712-34C>T)
gnomAD v4
3g.38562573A>CCA2665111737SCN5Ac.3838-36T>G (n.3838-36T>G)
c.3841-36T>G (n.3841-36T>G)
c.3679-36T>G (n.3679-36T>G)
c.3712-36T>G (n.3712-36T>G)
gnomAD v4
3g.38562574C=CA1358566769SCN5Ac.3838-37G= (n.3838-37G=)
c.3841-37G= (n.3841-37G=)
c.3679-37G= (n.3679-37G=)
c.3712-37G= (n.3712-37G=)
3g.38562574C>GCA062389SCN5Ac.3838-37G>C (n.3838-37G>C)
c.3841-37G>C (n.3841-37G>C)
c.3679-37G>C (n.3679-37G>C)
c.3712-37G>C (n.3712-37G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38562574C>TCA1358566768SCN5Ac.3838-37G>A (n.3838-37G>A)
c.3841-37G>A (n.3841-37G>A)
c.3679-37G>A (n.3679-37G>A)
c.3712-37G>A (n.3712-37G>A)
dbSNP gnomAD v4
3g.38562575A>GCA2577553164SCN5Ac.3838-38T>C (n.3838-38T>C)
c.3841-38T>C (n.3841-38T>C)
c.3679-38T>C (n.3679-38T>C)
c.3712-38T>C (n.3712-38T>C)
3g.38562577C>TCA2665111738SCN5Ac.3838-40G>A (n.3838-40G>A)
c.3841-40G>A (n.3841-40G>A)
c.3679-40G>A (n.3679-40G>A)
c.3712-40G>A (n.3712-40G>A)
gnomAD v4
3g.38562580C=CA1358566770SCN5Ac.3838-43G= (n.3838-43G=)
c.3841-43G= (n.3841-43G=)
c.3679-43G= (n.3679-43G=)
c.3712-43G= (n.3712-43G=)
3g.38562580C>TCA906901665SCN5Ac.3838-43G>A (n.3838-43G>A)
c.3841-43G>A (n.3841-43G>A)
c.3679-43G>A (n.3679-43G>A)
c.3712-43G>A (n.3712-43G>A)
dbSNP
3g.38562581C>ACA2665111739SCN5Ac.3838-44G>T (n.3838-44G>T)
c.3841-44G>T (n.3841-44G>T)
c.3679-44G>T (n.3679-44G>T)
c.3712-44G>T (n.3712-44G>T)
gnomAD v4
3g.38562582C>ACA542270485SCN5Ac.3838-45G>T (n.3838-45G>T)
c.3841-45G>T (n.3841-45G>T)
c.3679-45G>T (n.3679-45G>T)
c.3712-45G>T (n.3712-45G>T)
dbSNP gnomAD v2 gnomAD v4
3g.38562582C=CA1358566771SCN5Ac.3838-45G= (n.3838-45G=)
c.3841-45G= (n.3841-45G=)
c.3679-45G= (n.3679-45G=)
c.3712-45G= (n.3712-45G=)
3g.38562582C>TCA542270486SCN5Ac.3838-45G>A (n.3838-45G>A)
c.3841-45G>A (n.3841-45G>A)
c.3679-45G>A (n.3679-45G>A)
c.3712-45G>A (n.3712-45G>A)
dbSNP gnomAD v2 gnomAD v4
3g.38562584_38562595delCA2755899248SCN5Ac.3838-56_3838-45del (n.3838-56_3838-45del)
c.3841-56_3841-45del (n.3841-56_3841-45del)
c.3679-56_3679-45del (n.3679-56_3679-45del)
c.3712-56_3712-45del (n.3712-56_3712-45del)
3g.38562583A=CA1358566772SCN5Ac.3838-46T= (n.3838-46T=)
c.3841-46T= (n.3841-46T=)
c.3679-46T= (n.3679-46T=)
c.3712-46T= (n.3712-46T=)
3g.38562583A>GCA1358566773SCN5Ac.3838-46T>C (n.3838-46T>C)
c.3841-46T>C (n.3841-46T>C)
c.3679-46T>C (n.3679-46T>C)
c.3712-46T>C (n.3712-46T>C)
dbSNP
3g.38562584C=CA1358566774SCN5Ac.3838-47G= (n.3838-47G=)
c.3841-47G= (n.3841-47G=)
c.3679-47G= (n.3679-47G=)
c.3712-47G= (n.3712-47G=)
3g.38562584C>GCA062390SCN5Ac.3838-47G>C (n.3838-47G>C)
c.3841-47G>C (n.3841-47G>C)
c.3679-47G>C (n.3679-47G>C)
c.3712-47G>C (n.3712-47G>C)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38562584C>TCA2577553165SCN5Ac.3838-47G>A (n.3838-47G>A)
c.3841-47G>A (n.3841-47G>A)
c.3679-47G>A (n.3679-47G>A)
c.3712-47G>A (n.3712-47G>A)
3g.38562586G>ACA1358566776SCN5Ac.3838-49C>T (n.3838-49C>T)
c.3841-49C>T (n.3841-49C>T)
c.3679-49C>T (n.3679-49C>T)
c.3712-49C>T (n.3712-49C>T)
dbSNP
3g.38562586G>CCA542270487SCN5Ac.3838-49C>G (n.3838-49C>G)
c.3841-49C>G (n.3841-49C>G)
c.3679-49C>G (n.3679-49C>G)
c.3712-49C>G (n.3712-49C>G)
dbSNP gnomAD v2 gnomAD v4
3g.38562586G=CA1358566775SCN5Ac.3838-49C= (n.3838-49C=)
c.3841-49C= (n.3841-49C=)
c.3679-49C= (n.3679-49C=)
c.3712-49C= (n.3712-49C=)
3g.38562587T>CCA062392SCN5Ac.3838-50A>G (n.3838-50A>G)
c.3841-50A>G (n.3841-50A>G)
c.3679-50A>G (n.3679-50A>G)
c.3712-50A>G (n.3712-50A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38562587T>GCA915942429SCN5Ac.3838-50A>C (n.3838-50A>C)
c.3841-50A>C (n.3841-50A>C)
c.3679-50A>C (n.3679-50A>C)
c.3712-50A>C (n.3712-50A>C)
ClinVar dbSNP
3g.38562587T=CA1358566777SCN5Ac.3838-50A= (n.3838-50A=)
c.3841-50A= (n.3841-50A=)
c.3679-50A= (n.3679-50A=)
c.3712-50A= (n.3712-50A=)
3g.38562588T>CCA2665111740SCN5Ac.3838-51A>G (n.3838-51A>G)
c.3841-51A>G (n.3841-51A>G)
c.3679-51A>G (n.3679-51A>G)
c.3712-51A>G (n.3712-51A>G)
gnomAD v4
3g.38562591G=CA1358566778SCN5Ac.3838-54C= (n.3838-54C=)
c.3841-54C= (n.3841-54C=)
c.3679-54C= (n.3679-54C=)
c.3712-54C= (n.3712-54C=)
3g.38562591G>TCA647831797SCN5Ac.3838-54C>A (n.3838-54C>A)
c.3841-54C>A (n.3841-54C>A)
c.3679-54C>A (n.3679-54C>A)
c.3712-54C>A (n.3712-54C>A)
gnomAD v4 COSMIC
3g.38562592G>ACA1046995280SCN5Ac.3838-55C>T (n.3838-55C>T)
c.3841-55C>T (n.3841-55C>T)
c.3679-55C>T (n.3679-55C>T)
c.3712-55C>T (n.3712-55C>T)
dbSNP
3g.38562592G=CA1358566779SCN5Ac.3838-55C= (n.3838-55C=)
c.3841-55C= (n.3841-55C=)
c.3679-55C= (n.3679-55C=)
c.3712-55C= (n.3712-55C=)
3g.38562597_38562600dupCA1358566780SCN5Ac.3838-58_3838-55dup (n.3838-58_3838-55dup)
c.3841-58_3841-55dup (n.3841-58_3841-55dup)
c.3679-58_3679-55dup (n.3679-58_3679-55dup)
c.3712-58_3712-55dup (n.3712-58_3712-55dup)
dbSNP
3g.38562593A>CCA2665111741SCN5Ac.3838-56T>G (n.3838-56T>G)
c.3841-56T>G (n.3841-56T>G)
c.3679-56T>G (n.3679-56T>G)
c.3712-56T>G (n.3712-56T>G)
gnomAD v4
3g.38562593A>GCA2665111742SCN5Ac.3838-56T>C (n.3838-56T>C)
c.3841-56T>C (n.3841-56T>C)
c.3679-56T>C (n.3679-56T>C)
c.3712-56T>C (n.3712-56T>C)
gnomAD v4
3g.38562594C>TCA2665111743SCN5Ac.3838-57G>A (n.3838-57G>A)
c.3841-57G>A (n.3841-57G>A)
c.3679-57G>A (n.3679-57G>A)
c.3712-57G>A (n.3712-57G>A)
gnomAD v4
3g.38562595A=CA1358566781SCN5Ac.3838-58T= (n.3838-58T=)
c.3841-58T= (n.3841-58T=)
c.3679-58T= (n.3679-58T=)
c.3712-58T= (n.3712-58T=)
3g.38562595A>TCA906901680SCN5Ac.3838-58T>A (n.3838-58T>A)
c.3841-58T>A (n.3841-58T>A)
c.3679-58T>A (n.3679-58T>A)
c.3712-58T>A (n.3712-58T>A)
dbSNP gnomAD v4
3g.38562596G>TCA2665111744SCN5Ac.3838-59C>A (n.3838-59C>A)
c.3841-59C>A (n.3841-59C>A)
c.3679-59C>A (n.3679-59C>A)
c.3712-59C>A (n.3712-59C>A)
gnomAD v4
3g.38562597A>GCA2755899254SCN5Ac.3838-60T>C (n.3838-60T>C)
c.3841-60T>C (n.3841-60T>C)
c.3679-60T>C (n.3679-60T>C)
c.3712-60T>C (n.3712-60T>C)

Number of alleles fetched