Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38576659A>CCA352138310SCN5Ac.3508+2T>G (n.3508+2T>G)
c.3511+2T>G (n.3511+2T>G)
c.3349+2T>G (n.3349+2T>G)
c.3382+2T>G (n.3382+2T>G)
3g.38576659A>GCA352138309SCN5Ac.3508+2T>C (n.3508+2T>C)
c.3511+2T>C (n.3511+2T>C)
c.3349+2T>C (n.3349+2T>C)
c.3382+2T>C (n.3382+2T>C)
3g.38576659A>TCA352138308SCN5Ac.3508+2T>A (n.3508+2T>A)
c.3511+2T>A (n.3511+2T>A)
c.3349+2T>A (n.3349+2T>A)
c.3382+2T>A (n.3382+2T>A)
3g.38576660C>ACA352138311SCN5Ac.3508+1G>T (n.3508+1G>T)
c.3511+1G>T (n.3511+1G>T)
c.3349+1G>T (n.3349+1G>T)
c.3382+1G>T (n.3382+1G>T)
 ClinVar
3g.38576660C>GCA352138312SCN5Ac.3508+1G>C (n.3508+1G>C)
c.3511+1G>C (n.3511+1G>C)
c.3349+1G>C (n.3349+1G>C)
c.3382+1G>C (n.3382+1G>C)
 ClinVar
3g.38576660C>TCA352138313SCN5Ac.3508+1G>A (n.3508+1G>A)
c.3511+1G>A (n.3511+1G>A)
c.3349+1G>A (n.3349+1G>A)
c.3382+1G>A (n.3382+1G>A)
3g.38576661C>ACA352138314SCN5Ac.3508G>T (p.Gly1170Cys)
c.3511G>T (p.Gly1171Cys)
c.3349G>T (p.Gly1117Cys)
c.3382G>T (p.Gly1128Cys)
3g.38576661C>GCA352138315SCN5Ac.3508G>C (p.Gly1170Arg)
c.3511G>C (p.Gly1171Arg)
c.3349G>C (p.Gly1117Arg)
c.3382G>C (p.Gly1128Arg)
3g.38576661C>TCA352138316SCN5Ac.3508G>A (p.Gly1170Ser)
c.3511G>A (p.Gly1171Ser)
c.3349G>A (p.Gly1117Ser)
c.3382G>A (p.Gly1128Ser)
3g.38576662T>ACA352138318SCN5Ac.3507A>T (p.Glu1169Asp)
c.3510A>T (p.Glu1170Asp)
c.3348A>T (p.Glu1116Asp)
c.3381A>T (p.Glu1127Asp)
3g.38576662T>CCA433134104SCN5Ac.3507A>G (p.Glu1169=)
c.3510A>G (p.Glu1170=)
c.3348A>G (p.Glu1116=)
c.3381A>G (p.Glu1127=)
3g.38576662T>GCA352138317SCN5Ac.3507A>C (p.Glu1169Asp)
c.3510A>C (p.Glu1170Asp)
c.3348A>C (p.Glu1116Asp)
c.3381A>C (p.Glu1127Asp)
3g.38576663T>ACA352138319SCN5Ac.3506A>T (p.Glu1169Val)
c.3509A>T (p.Glu1170Val)
c.3347A>T (p.Glu1116Val)
c.3380A>T (p.Glu1127Val)
3g.38576663T>CCA352138320SCN5Ac.3506A>G (p.Glu1169Gly)
c.3509A>G (p.Glu1170Gly)
c.3347A>G (p.Glu1116Gly)
c.3380A>G (p.Glu1127Gly)
3g.38576663T>GCA352138321SCN5Ac.3506A>C (p.Glu1169Ala)
c.3509A>C (p.Glu1170Ala)
c.3347A>C (p.Glu1116Ala)
c.3380A>C (p.Glu1127Ala)
3g.38576664C>ACA352138322SCN5Ac.3505G>T (p.Glu1169Ter)
c.3508G>T (p.Glu1170Ter)
c.3346G>T (p.Glu1116Ter)
c.3379G>T (p.Glu1127Ter)
 dbSNP
3g.38576664C=CA1358573142SCN5Ac.3505G= (p.Glu1169=)
c.3508G= (p.Glu1170=)
c.3346G= (p.Glu1116=)
c.3379G= (p.Glu1127=)
3g.38576664C>GCA352138323SCN5Ac.3505G>C (p.Glu1169Gln)
c.3508G>C (p.Glu1170Gln)
c.3346G>C (p.Glu1116Gln)
c.3379G>C (p.Glu1127Gln)
3g.38576664C>TCA352138324SCN5Ac.3505G>A (p.Glu1169Lys)
c.3508G>A (p.Glu1170Lys)
c.3346G>A (p.Glu1116Lys)
c.3379G>A (p.Glu1127Lys)
 gnomAD v4
3g.38576665A>CCA433134105SCN5Ac.3504T>G (p.Thr1168=)
c.3507T>G (p.Thr1169=)
c.3345T>G (p.Thr1115=)
c.3378T>G (p.Thr1126=)
3g.38576665A>GCA433134106SCN5Ac.3504T>C (p.Thr1168=)
c.3507T>C (p.Thr1169=)
c.3345T>C (p.Thr1115=)
c.3378T>C (p.Thr1126=)
3g.38576665A>TCA433134107SCN5Ac.3504T>A (p.Thr1168=)
c.3507T>A (p.Thr1169=)
c.3345T>A (p.Thr1115=)
c.3378T>A (p.Thr1126=)
3g.38576666G>ACA061897SCN5Ac.3503C>T (p.Thr1168Ile)
c.3506C>T (p.Thr1169Ile)
c.3344C>T (p.Thr1115Ile)
c.3377C>T (p.Thr1126Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38576666G>CCA352138326SCN5Ac.3503C>G (p.Thr1168Ser)
c.3506C>G (p.Thr1169Ser)
c.3344C>G (p.Thr1115Ser)
c.3377C>G (p.Thr1126Ser)
 ClinVar dbSNP gnomAD v4
3g.38576666G=CA1358573143SCN5Ac.3503C= (p.Thr1168=)
c.3506C= (p.Thr1169=)
c.3344C= (p.Thr1115=)
c.3377C= (p.Thr1126=)
3g.38576666G>TCA352138325SCN5Ac.3503C>A (p.Thr1168Asn)
c.3506C>A (p.Thr1169Asn)
c.3344C>A (p.Thr1115Asn)
c.3377C>A (p.Thr1126Asn)
3g.38576667T>ACA352138327SCN5Ac.3502A>T (p.Thr1168Ser)
c.3505A>T (p.Thr1169Ser)
c.3343A>T (p.Thr1115Ser)
c.3376A>T (p.Thr1126Ser)
3g.38576667T>CCA352138328SCN5Ac.3502A>G (p.Thr1168Ala)
c.3505A>G (p.Thr1169Ala)
c.3343A>G (p.Thr1115Ala)
c.3376A>G (p.Thr1126Ala)
3g.38576667T>GCA352138329SCN5Ac.3502A>C (p.Thr1168Pro)
c.3505A>C (p.Thr1169Pro)
c.3343A>C (p.Thr1115Pro)
c.3376A>C (p.Thr1126Pro)
3g.38576668G>ACA433134108SCN5Ac.3501C>T (p.Phe1167=)
c.3504C>T (p.Phe1168=)
c.3342C>T (p.Phe1114=)
c.3375C>T (p.Phe1125=)
 gnomAD v4
3g.38576668G>CCA352138330SCN5Ac.3501C>G (p.Phe1167Leu)
c.3504C>G (p.Phe1168Leu)
c.3342C>G (p.Phe1114Leu)
c.3375C>G (p.Phe1125Leu)
3g.38576668G>TCA352138331SCN5Ac.3501C>A (p.Phe1167Leu)
c.3504C>A (p.Phe1168Leu)
c.3342C>A (p.Phe1114Leu)
c.3375C>A (p.Phe1125Leu)
3g.38576669A>CCA352138332SCN5Ac.3500T>G (p.Phe1167Cys)
c.3503T>G (p.Phe1168Cys)
c.3341T>G (p.Phe1114Cys)
c.3374T>G (p.Phe1125Cys)
3g.38576669A>GCA352138333SCN5Ac.3500T>C (p.Phe1167Ser)
c.3503T>C (p.Phe1168Ser)
c.3341T>C (p.Phe1114Ser)
c.3374T>C (p.Phe1125Ser)
3g.38576669A>TCA352138334SCN5Ac.3500T>A (p.Phe1167Tyr)
c.3503T>A (p.Phe1168Tyr)
c.3341T>A (p.Phe1114Tyr)
c.3374T>A (p.Phe1125Tyr)
3g.38576670A=CA1358573144SCN5Ac.3499T= (p.Phe1167=)
c.3502T= (p.Phe1168=)
c.3340T= (p.Phe1114=)
c.3373T= (p.Phe1125=)
3g.38576670A>CCA352138335SCN5Ac.3499T>G (p.Phe1167Val)
c.3502T>G (p.Phe1168Val)
c.3340T>G (p.Phe1114Val)
c.3373T>G (p.Phe1125Val)
3g.38576670A>GCA352138336SCN5Ac.3499T>C (p.Phe1167Leu)
c.3502T>C (p.Phe1168Leu)
c.3340T>C (p.Phe1114Leu)
c.3373T>C (p.Phe1125Leu)
 dbSNP gnomAD v2 gnomAD v4
3g.38576670A>TCA352138337SCN5Ac.3499T>A (p.Phe1167Ile)
c.3502T>A (p.Phe1168Ile)
c.3340T>A (p.Phe1114Ile)
c.3373T>A (p.Phe1125Ile)
3g.38576671G>ACA433134109SCN5Ac.3498C>T (p.Cys1166=)
c.3501C>T (p.Cys1167=)
c.3339C>T (p.Cys1113=)
c.3372C>T (p.Cys1124=)
3g.38576671G>CCA352138339SCN5Ac.3498C>G (p.Cys1166Trp)
c.3501C>G (p.Cys1167Trp)
c.3339C>G (p.Cys1113Trp)
c.3372C>G (p.Cys1124Trp)
3g.38576671G=CA1358573145SCN5Ac.3498C= (p.Cys1166=)
c.3501C= (p.Cys1167=)
c.3339C= (p.Cys1113=)
c.3372C= (p.Cys1124=)
3g.38576671G>TCA352138338SCN5Ac.3498C>A (p.Cys1166Ter)
c.3501C>A (p.Cys1167Ter)
c.3339C>A (p.Cys1113Ter)
c.3372C>A (p.Cys1124Ter)
 dbSNP
3g.38576672C>ACA352138340SCN5Ac.3497G>T (p.Cys1166Phe)
c.3500G>T (p.Cys1167Phe)
c.3338G>T (p.Cys1113Phe)
c.3371G>T (p.Cys1124Phe)
 COSMIC
3g.38576672C=CA1358573146SCN5Ac.3497G= (p.Cys1166=)
c.3500G= (p.Cys1167=)
c.3338G= (p.Cys1113=)
c.3371G= (p.Cys1124=)
3g.38576672C>GCA352138341SCN5Ac.3497G>C (p.Cys1166Ser)
c.3500G>C (p.Cys1167Ser)
c.3338G>C (p.Cys1113Ser)
c.3371G>C (p.Cys1124Ser)
3g.38576672C>TCA72923913SCN5Ac.3497G>A (p.Cys1166Tyr)
c.3500G>A (p.Cys1167Tyr)
c.3338G>A (p.Cys1113Tyr)
c.3371G>A (p.Cys1124Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38576673A>CCA352138342SCN5Ac.3496T>G (p.Cys1166Gly)
c.3499T>G (p.Cys1167Gly)
c.3337T>G (p.Cys1113Gly)
c.3370T>G (p.Cys1124Gly)
3g.38576673A>GCA352138343SCN5Ac.3496T>C (p.Cys1166Arg)
c.3499T>C (p.Cys1167Arg)
c.3337T>C (p.Cys1113Arg)
c.3370T>C (p.Cys1124Arg)
 gnomAD v4
3g.38576673A>TCA352138344SCN5Ac.3496T>A (p.Cys1166Ser)
c.3499T>A (p.Cys1167Ser)
c.3337T>A (p.Cys1113Ser)
c.3370T>A (p.Cys1124Ser)

Number of alleles fetched