Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.38528603C>ACA507354528RYR1c.10881C>A (n.10881C>A)
c.10942C>A (p.Arg3648=)
c.10927C>A (p.Arg3643=)
c.10924C>A (p.Arg3642=)
c.4329C>A
c.1749C>A
c.223C>A (p.Arg75=)
c.10939C>A (p.Arg3647=)
19g.38528603C>GCA405649686RYR1c.10881C>G (n.10881C>G)
c.10942C>G (p.Arg3648Gly)
c.10927C>G (p.Arg3643Gly)
c.10924C>G (p.Arg3642Gly)
c.4329C>G
c.1749C>G
c.223C>G (p.Arg75Gly)
c.10939C>G (p.Arg3647Gly)
 ClinVar gnomAD v4
19g.38528603C>TCA405649687RYR1c.10881C>T (n.10881C>T)
c.10942C>T (p.Arg3648Trp)
c.10927C>T (p.Arg3643Trp)
c.10924C>T (p.Arg3642Trp)
c.4329C>T
c.1749C>T
c.223C>T (p.Arg75Trp)
c.10939C>T (p.Arg3647Trp)
 ClinVar gnomAD v4
19g.38528604G>ACA055437RYR1c.10882G>A (n.10882G>A)
c.10943G>A (p.Arg3648Gln)
c.10928G>A (p.Arg3643Gln)
c.10925G>A (p.Arg3642Gln)
c.4330G>A
c.1750G>A
c.224G>A (p.Arg75Gln)
c.10940G>A (p.Arg3647Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38528604G>CCA405649688RYR1c.10882G>C (n.10882G>C)
c.10943G>C (p.Arg3648Pro)
c.10928G>C (p.Arg3643Pro)
c.10925G>C (p.Arg3642Pro)
c.4330G>C
c.1750G>C
c.224G>C (p.Arg75Pro)
c.10940G>C (p.Arg3647Pro)
19g.38528604G=CA2335067450RYR1c.10882G= (n.10882G=)
c.10943G= (p.Arg3648=)
c.10928G= (p.Arg3643=)
c.10925G= (p.Arg3642=)
c.4330G=
c.1750G=
c.224G= (p.Arg75=)
c.10940G= (p.Arg3647=)
19g.38528604G>TCA405649689RYR1c.10882G>T (n.10882G>T)
c.10943G>T (p.Arg3648Leu)
c.10928G>T (p.Arg3643Leu)
c.10925G>T (p.Arg3642Leu)
c.4330G>T
c.1750G>T
c.224G>T (p.Arg75Leu)
c.10940G>T (p.Arg3647Leu)
19g.38528605G>ACA507354529RYR1c.10883G>A (n.10883G>A)
c.10944G>A (p.Arg3648=)
c.10929G>A (p.Arg3643=)
c.10926G>A (p.Arg3642=)
c.4331G>A
c.1751G>A
c.225G>A (p.Arg75=)
c.10941G>A (p.Arg3647=)
 gnomAD v4
19g.38528605G>CCA507354530RYR1c.10883G>C (n.10883G>C)
c.10944G>C (p.Arg3648=)
c.10929G>C (p.Arg3643=)
c.10926G>C (p.Arg3642=)
c.4331G>C
c.1751G>C
c.225G>C (p.Arg75=)
c.10941G>C (p.Arg3647=)
19g.38528605G>TCA507354531RYR1c.10883G>T (n.10883G>T)
c.10944G>T (p.Arg3648=)
c.10929G>T (p.Arg3643=)
c.10926G>T (p.Arg3642=)
c.4331G>T
c.1751G>T
c.225G>T (p.Arg75=)
c.10941G>T (p.Arg3647=)
19g.38528606G>ACA405649690RYR1c.10884G>A (n.10884G>A)
c.10945G>A (p.Ala3649Thr)
c.10930G>A (p.Ala3644Thr)
c.10927G>A (p.Ala3643Thr)
c.4332G>A
c.1752G>A
c.226G>A (p.Ala76Thr)
c.10942G>A (p.Ala3648Thr)
19g.38528606G>CCA405649691RYR1c.10884G>C (n.10884G>C)
c.10945G>C (p.Ala3649Pro)
c.10930G>C (p.Ala3644Pro)
c.10927G>C (p.Ala3643Pro)
c.4332G>C
c.1752G>C
c.226G>C (p.Ala76Pro)
c.10942G>C (p.Ala3648Pro)
 ClinVar
19g.38528606G=CA2335067451RYR1c.10884G= (n.10884G=)
c.10945G= (p.Ala3649=)
c.10930G= (p.Ala3644=)
c.10927G= (p.Ala3643=)
c.4332G=
c.1752G=
c.226G= (p.Ala76=)
c.10942G= (p.Ala3648=)
19g.38528606G>TCA405649692RYR1c.10884G>T (n.10884G>T)
c.10945G>T (p.Ala3649Ser)
c.10930G>T (p.Ala3644Ser)
c.10927G>T (p.Ala3643Ser)
c.4332G>T
c.1752G>T
c.226G>T (p.Ala76Ser)
c.10942G>T (p.Ala3648Ser)
 dbSNP gnomAD v4
19g.38528607C>ACA405649693RYR1c.10885C>A (n.10885C>A)
c.10946C>A (p.Ala3649Glu)
c.10931C>A (p.Ala3644Glu)
c.10928C>A (p.Ala3643Glu)
c.4333C>A
c.1753C>A
c.227C>A (p.Ala76Glu)
c.10943C>A (p.Ala3648Glu)
19g.38528607C=CA2335067452RYR1c.10885C= (n.10885C=)
c.10946C= (p.Ala3649=)
c.10931C= (p.Ala3644=)
c.10928C= (p.Ala3643=)
c.4333C=
c.1753C=
c.227C= (p.Ala76=)
c.10943C= (p.Ala3648=)
19g.38528607C>GCA405649694RYR1c.10885C>G (n.10885C>G)
c.10946C>G (p.Ala3649Gly)
c.10931C>G (p.Ala3644Gly)
c.10928C>G (p.Ala3643Gly)
c.4333C>G
c.1753C>G
c.227C>G (p.Ala76Gly)
c.10943C>G (p.Ala3648Gly)
19g.38528607C>TCA055445RYR1c.10885C>T (n.10885C>T)
c.10946C>T (p.Ala3649Val)
c.10931C>T (p.Ala3644Val)
c.10928C>T (p.Ala3643Val)
c.4333C>T
c.1753C>T
c.227C>T (p.Ala76Val)
c.10943C>T (p.Ala3648Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38528607dupCA2695223186RYR1c.10885dup (n.10885dup)
c.10946dup (p.Cys3650MetfsTer2)
c.10931dup (p.Cys3645MetfsTer2)
c.10928dup (p.Cys3644MetfsTer2)
c.4333dup
c.1753dup
c.227dup (p.Cys77MetfsTer2)
c.10943dup (p.Cys3649MetfsTer2)
 ClinVar
19g.38528608A=CA2335067453RYR1c.10886A= (n.10886A=)
c.10947A= (p.Ala3649=)
c.10932A= (p.Ala3644=)
c.10929A= (p.Ala3643=)
c.4334A=
c.1754A=
c.228A= (p.Ala76=)
c.10944A= (p.Ala3648=)
19g.38528608A>CCA507354534RYR1c.10886A>C (n.10886A>C)
c.10947A>C (p.Ala3649=)
c.10932A>C (p.Ala3644=)
c.10929A>C (p.Ala3643=)
c.4334A>C
c.1754A>C
c.228A>C (p.Ala76=)
c.10944A>C (p.Ala3648=)
 dbSNP gnomAD v2 gnomAD v4
19g.38528608A>GCA507354533RYR1c.10886A>G (n.10886A>G)
c.10947A>G (p.Ala3649=)
c.10932A>G (p.Ala3644=)
c.10929A>G (p.Ala3643=)
c.4334A>G
c.1754A>G
c.228A>G (p.Ala76=)
c.10944A>G (p.Ala3648=)
 ClinVar dbSNP gnomAD v4
19g.38528608A>TCA507354532RYR1c.10886A>T (n.10886A>T)
c.10947A>T (p.Ala3649=)
c.10932A>T (p.Ala3644=)
c.10929A>T (p.Ala3643=)
c.4334A>T
c.1754A>T
c.228A>T (p.Ala76=)
c.10944A>T (p.Ala3648=)
19g.38528609T>ACA405649697RYR1c.10887T>A (n.10887T>A)
c.10948T>A (p.Cys3650Ser)
c.10933T>A (p.Cys3645Ser)
c.10930T>A (p.Cys3644Ser)
c.4335T>A
c.1755T>A
c.229T>A (p.Cys77Ser)
c.10945T>A (p.Cys3649Ser)
 dbSNP gnomAD v2 gnomAD v4
19g.38528609T>CCA405649695RYR1c.10887T>C (n.10887T>C)
c.10948T>C (p.Cys3650Arg)
c.10933T>C (p.Cys3645Arg)
c.10930T>C (p.Cys3644Arg)
c.4335T>C
c.1755T>C
c.229T>C (p.Cys77Arg)
c.10945T>C (p.Cys3649Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38528609T>GCA405649696RYR1c.10887T>G (n.10887T>G)
c.10948T>G (p.Cys3650Gly)
c.10933T>G (p.Cys3645Gly)
c.10930T>G (p.Cys3644Gly)
c.4335T>G
c.1755T>G
c.229T>G (p.Cys77Gly)
c.10945T>G (p.Cys3649Gly)
19g.38528609T=CA2335067454RYR1c.10887T= (n.10887T=)
c.10948T= (p.Cys3650=)
c.10933T= (p.Cys3645=)
c.10930T= (p.Cys3644=)
c.4335T=
c.1755T=
c.229T= (p.Cys77=)
c.10945T= (p.Cys3649=)
19g.38528610G>ACA405649698RYR1c.10888G>A (n.10888G>A)
c.10949G>A (p.Cys3650Tyr)
c.10934G>A (p.Cys3645Tyr)
c.10931G>A (p.Cys3644Tyr)
c.4336G>A
c.1756G>A
c.230G>A (p.Cys77Tyr)
c.10946G>A (p.Cys3649Tyr)
 dbSNP
19g.38528610G>CCA405649699RYR1c.10888G>C (n.10888G>C)
c.10949G>C (p.Cys3650Ser)
c.10934G>C (p.Cys3645Ser)
c.10931G>C (p.Cys3644Ser)
c.4336G>C
c.1756G>C
c.230G>C (p.Cys77Ser)
c.10946G>C (p.Cys3649Ser)
19g.38528610G=CA2335067455RYR1c.10888G= (n.10888G=)
c.10949G= (p.Cys3650=)
c.10934G= (p.Cys3645=)
c.10931G= (p.Cys3644=)
c.4336G=
c.1756G=
c.230G= (p.Cys77=)
c.10946G= (p.Cys3649=)
19g.38528610G>TCA405649700RYR1c.10888G>T (n.10888G>T)
c.10949G>T (p.Cys3650Phe)
c.10934G>T (p.Cys3645Phe)
c.10931G>T (p.Cys3644Phe)
c.4336G>T
c.1756G>T
c.230G>T (p.Cys77Phe)
c.10946G>T (p.Cys3649Phe)
19g.38528611T>ACA405649701RYR1c.10889T>A (n.10889T>A)
c.10950T>A (p.Cys3650Ter)
c.10935T>A (p.Cys3645Ter)
c.10932T>A (p.Cys3644Ter)
c.4337T>A
c.1757T>A
c.231T>A (p.Cys77Ter)
c.10947T>A (p.Cys3649Ter)
19g.38528611T>CCA507354535RYR1c.10889T>C (n.10889T>C)
c.10950T>C (p.Cys3650=)
c.10935T>C (p.Cys3645=)
c.10932T>C (p.Cys3644=)
c.4337T>C
c.1757T>C
c.231T>C (p.Cys77=)
c.10947T>C (p.Cys3649=)
19g.38528611T>GCA405649702RYR1c.10889T>G (n.10889T>G)
c.10950T>G (p.Cys3650Trp)
c.10935T>G (p.Cys3645Trp)
c.10932T>G (p.Cys3644Trp)
c.4337T>G
c.1757T>G
c.231T>G (p.Cys77Trp)
c.10947T>G (p.Cys3649Trp)
19g.38528612A>CCA405649703RYR1c.10890A>C (n.10890A>C)
c.10951A>C (p.Asn3651His)
c.10936A>C (p.Asn3646His)
c.10933A>C (p.Asn3645His)
c.4338A>C
c.1758A>C
c.232A>C (p.Asn78His)
c.10948A>C (p.Asn3650His)
19g.38528612A>GCA405649704RYR1c.10890A>G (n.10890A>G)
c.10951A>G (p.Asn3651Asp)
c.10936A>G (p.Asn3646Asp)
c.10933A>G (p.Asn3645Asp)
c.4338A>G
c.1758A>G
c.232A>G (p.Asn78Asp)
c.10948A>G (p.Asn3650Asp)
19g.38528612A>TCA405649705RYR1c.10890A>T (n.10890A>T)
c.10951A>T (p.Asn3651Tyr)
c.10936A>T (p.Asn3646Tyr)
c.10933A>T (p.Asn3645Tyr)
c.4338A>T
c.1758A>T
c.232A>T (p.Asn78Tyr)
c.10948A>T (p.Asn3650Tyr)
19g.38528613A=CA2335067456RYR1c.10891A= (n.10891A=)
c.10952A= (p.Asn3651=)
c.10937A= (p.Asn3646=)
c.10934A= (p.Asn3645=)
c.4339A=
c.1759A=
c.233A= (p.Asn78=)
c.10949A= (p.Asn3650=)
19g.38528613A>CCA405649706RYR1c.10891A>C (n.10891A>C)
c.10952A>C (p.Asn3651Thr)
c.10937A>C (p.Asn3646Thr)
c.10934A>C (p.Asn3645Thr)
c.4339A>C
c.1759A>C
c.233A>C (p.Asn78Thr)
c.10949A>C (p.Asn3650Thr)
19g.38528613A>GCA055455RYR1c.10891A>G (n.10891A>G)
c.10952A>G (p.Asn3651Ser)
c.10937A>G (p.Asn3646Ser)
c.10934A>G (p.Asn3645Ser)
c.4339A>G
c.1759A>G
c.233A>G (p.Asn78Ser)
c.10949A>G (p.Asn3650Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38528613A>TCA405649707RYR1c.10891A>T (n.10891A>T)
c.10952A>T (p.Asn3651Ile)
c.10937A>T (p.Asn3646Ile)
c.10934A>T (p.Asn3645Ile)
c.4339A>T
c.1759A>T
c.233A>T (p.Asn78Ile)
c.10949A>T (p.Asn3650Ile)
19g.38528614C>ACA405649708RYR1c.10892C>A (n.10892C>A)
c.10953C>A (p.Asn3651Lys)
c.10938C>A (p.Asn3646Lys)
c.10935C>A (p.Asn3645Lys)
c.4340C>A
c.1760C>A
c.234C>A (p.Asn78Lys)
c.10950C>A (p.Asn3650Lys)
19g.38528614C=CA2335067457RYR1c.10892C= (n.10892C=)
c.10953C= (p.Asn3651=)
c.10938C= (p.Asn3646=)
c.10935C= (p.Asn3645=)
c.4340C=
c.1760C=
c.234C= (p.Asn78=)
c.10950C= (p.Asn3650=)
19g.38528614C>GCA080121RYR1c.10892C>G (n.10892C>G)
c.10953C>G (p.Asn3651Lys)
c.10938C>G (p.Asn3646Lys)
c.10935C>G (p.Asn3645Lys)
c.4340C>G
c.1760C>G
c.234C>G (p.Asn78Lys)
c.10950C>G (p.Asn3650Lys)
19g.38528614C>TCA055464RYR1c.10892C>T (n.10892C>T)
c.10953C>T (p.Asn3651=)
c.10938C>T (p.Asn3646=)
c.10935C>T (p.Asn3645=)
c.4340C>T
c.1760C>T
c.234C>T (p.Asn78=)
c.10950C>T (p.Asn3650=)
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
19g.38528615A=CA2335067458RYR1c.10893A= (n.10893A=)
c.10954A= (p.Met3652=)
c.10939A= (p.Met3647=)
c.10936A= (p.Met3646=)
c.4341A=
c.1761A=
c.235A= (p.Met79=)
c.10951A= (p.Met3651=)
19g.38528615A>CCA080118RYR1c.10893A>C (n.10893A>C)
c.10954A>C (p.Met3652Leu)
c.10939A>C (p.Met3647Leu)
c.10936A>C (p.Met3646Leu)
c.4341A>C
c.1761A>C
c.235A>C (p.Met79Leu)
c.10951A>C (p.Met3651Leu)
19g.38528615A>GCA055470RYR1c.10893A>G (n.10893A>G)
c.10954A>G (p.Met3652Val)
c.10939A>G (p.Met3647Val)
c.10936A>G (p.Met3646Val)
c.4341A>G
c.1761A>G
c.235A>G (p.Met79Val)
c.10951A>G (p.Met3651Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38528615A>TCA405649709RYR1c.10893A>T (n.10893A>T)
c.10954A>T (p.Met3652Leu)
c.10939A>T (p.Met3647Leu)
c.10936A>T (p.Met3646Leu)
c.4341A>T
c.1761A>T
c.235A>T (p.Met79Leu)
c.10951A>T (p.Met3651Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38528616T>ACA405649710RYR1c.10894T>A (n.10894T>A)
c.10955T>A (p.Met3652Lys)
c.10940T>A (p.Met3647Lys)
c.10937T>A (p.Met3646Lys)
c.4342T>A
c.1762T>A
c.236T>A (p.Met79Lys)
c.10952T>A (p.Met3651Lys)
19g.38528616T>CCA405649712RYR1c.10894T>C (n.10894T>C)
c.10955T>C (p.Met3652Thr)
c.10940T>C (p.Met3647Thr)
c.10937T>C (p.Met3646Thr)
c.4342T>C
c.1762T>C
c.236T>C (p.Met79Thr)
c.10952T>C (p.Met3651Thr)
19g.38528616T>GCA405649711RYR1c.10894T>G (n.10894T>G)
c.10955T>G (p.Met3652Arg)
c.10940T>G (p.Met3647Arg)
c.10937T>G (p.Met3646Arg)
c.4342T>G
c.1762T>G
c.236T>G (p.Met79Arg)
c.10952T>G (p.Met3651Arg)
19g.38528617G>ACA405649713RYR1c.10895G>A (n.10895G>A)
c.10956G>A (p.Met3652Ile)
c.10941G>A (p.Met3647Ile)
c.10938G>A (p.Met3646Ile)
c.4343G>A
c.1763G>A
c.237G>A (p.Met79Ile)
c.10953G>A (p.Met3651Ile)
 dbSNP gnomAD v4
19g.38528617G>CCA080099RYR1c.10895G>C (n.10895G>C)
c.10956G>C (p.Met3652Ile)
c.10941G>C (p.Met3647Ile)
c.10938G>C (p.Met3646Ile)
c.4343G>C
c.1763G>C
c.237G>C (p.Met79Ile)
c.10953G>C (p.Met3651Ile)
19g.38528617G=CA2335067459RYR1c.10895G= (n.10895G=)
c.10956G= (p.Met3652=)
c.10941G= (p.Met3647=)
c.10938G= (p.Met3646=)
c.4343G=
c.1763G=
c.237G= (p.Met79=)
c.10953G= (p.Met3651=)
19g.38528617G>TCA405649714RYR1c.10895G>T (n.10895G>T)
c.10956G>T (p.Met3652Ile)
c.10941G>T (p.Met3647Ile)
c.10938G>T (p.Met3646Ile)
c.4343G>T
c.1763G>T
c.237G>T (p.Met79Ile)
c.10953G>T (p.Met3651Ile)
19g.38528618T>ACA405649715RYR1c.10896T>A (n.10896T>A)
c.10957T>A (p.Phe3653Ile)
c.10942T>A (p.Phe3648Ile)
c.10939T>A (p.Phe3647Ile)
c.4344T>A
c.1764T>A
c.238T>A (p.Phe80Ile)
c.10954T>A (p.Phe3652Ile)
 gnomAD v4
19g.38528618T>CCA405649716RYR1c.10896T>C (n.10896T>C)
c.10957T>C (p.Phe3653Leu)
c.10942T>C (p.Phe3648Leu)
c.10939T>C (p.Phe3647Leu)
c.4344T>C
c.1764T>C
c.238T>C (p.Phe80Leu)
c.10954T>C (p.Phe3652Leu)
19g.38528618T>GCA405649717RYR1c.10896T>G (n.10896T>G)
c.10957T>G (p.Phe3653Val)
c.10942T>G (p.Phe3648Val)
c.10939T>G (p.Phe3647Val)
c.4344T>G
c.1764T>G
c.238T>G (p.Phe80Val)
c.10954T>G (p.Phe3652Val)
19g.38528619T>ACA405649718RYR1c.10897T>A (n.10897T>A)
c.10958T>A (p.Phe3653Tyr)
c.10943T>A (p.Phe3648Tyr)
c.10940T>A (p.Phe3647Tyr)
c.4345T>A
c.1765T>A
c.239T>A (p.Phe80Tyr)
c.10955T>A (p.Phe3652Tyr)
 ClinVar dbSNP
19g.38528619T>CCA405649719RYR1c.10897T>C (n.10897T>C)
c.10958T>C (p.Phe3653Ser)
c.10943T>C (p.Phe3648Ser)
c.10940T>C (p.Phe3647Ser)
c.4345T>C
c.1765T>C
c.239T>C (p.Phe80Ser)
c.10955T>C (p.Phe3652Ser)
19g.38528619T>GCA405649720RYR1c.10897T>G (n.10897T>G)
c.10958T>G (p.Phe3653Cys)
c.10943T>G (p.Phe3648Cys)
c.10940T>G (p.Phe3647Cys)
c.4345T>G
c.1765T>G
c.239T>G (p.Phe80Cys)
c.10955T>G (p.Phe3652Cys)
19g.38528619_38528620delinsTCCA2335067460RYR1c.10897_10898delinsTC (n.10897_10898delinsTC)
c.10958_10959delinsTC (p.Phe3653=)
c.10943_10944delinsTC (p.Phe3648=)
c.10940_10941delinsTC (p.Phe3647=)
c.4345_4346delinsTC
c.1765_1766delinsTC
c.239_240delinsTC (p.Phe80=)
c.10955_10956delinsTC (p.Phe3652=)
19g.38528620C>ACA405649721RYR1c.10898C>A (n.10898C>A)
c.10959C>A (p.Phe3653Leu)
c.10944C>A (p.Phe3648Leu)
c.10941C>A (p.Phe3647Leu)
c.4346C>A
c.1766C>A
c.240C>A (p.Phe80Leu)
c.10956C>A (p.Phe3652Leu)
19g.38528620C=CA2335067461RYR1c.10898C= (n.10898C=)
c.10959C= (p.Phe3653=)
c.10944C= (p.Phe3648=)
c.10941C= (p.Phe3647=)
c.4346C=
c.1766C=
c.240C= (p.Phe80=)
c.10956C= (p.Phe3652=)
19g.38528620C>GCA080127RYR1c.10898C>G (n.10898C>G)
c.10959C>G (p.Phe3653Leu)
c.10944C>G (p.Phe3648Leu)
c.10941C>G (p.Phe3647Leu)
c.4346C>G
c.1766C>G
c.240C>G (p.Phe80Leu)
c.10956C>G (p.Phe3652Leu)
 gnomAD v4
19g.38528620C>TCA507354536RYR1c.10898C>T (n.10898C>T)
c.10959C>T (p.Phe3653=)
c.10944C>T (p.Phe3648=)
c.10941C>T (p.Phe3647=)
c.4346C>T
c.1766C>T
c.240C>T (p.Phe80=)
c.10956C>T (p.Phe3652=)
 dbSNP gnomAD v3 gnomAD v4
19g.38528621delCA916082466RYR1c.10899del (n.10899del)
c.10960del (p.Leu3654TrpfsTer10)
c.10945del (p.Leu3649TrpfsTer10)
c.10942del (p.Leu3648TrpfsTer10)
c.4347del
c.1767del
c.241del (p.Leu81TrpfsTer10)
c.10957del (p.Leu3653TrpfsTer10)
 ClinVar dbSNP
19g.38528621C>ACA405649723RYR1c.10899C>A (n.10899C>A)
c.10960C>A (p.Leu3654Met)
c.10945C>A (p.Leu3649Met)
c.10942C>A (p.Leu3648Met)
c.4347C>A
c.1767C>A
c.241C>A (p.Leu81Met)
c.10957C>A (p.Leu3653Met)
19g.38528621C=CA2335067462RYR1c.10899C= (n.10899C=)
c.10960C= (p.Leu3654=)
c.10945C= (p.Leu3649=)
c.10942C= (p.Leu3648=)
c.4347C=
c.1767C=
c.241C= (p.Leu81=)
c.10957C= (p.Leu3653=)
19g.38528621C>GCA405649722RYR1c.10899C>G (n.10899C>G)
c.10960C>G (p.Leu3654Val)
c.10945C>G (p.Leu3649Val)
c.10942C>G (p.Leu3648Val)
c.4347C>G
c.1767C>G
c.241C>G (p.Leu81Val)
c.10957C>G (p.Leu3653Val)
19g.38528621C>TCA507354537RYR1c.10899C>T (n.10899C>T)
c.10960C>T (p.Leu3654=)
c.10945C>T (p.Leu3649=)
c.10942C>T (p.Leu3648=)
c.4347C>T
c.1767C>T
c.241C>T (p.Leu81=)
c.10957C>T (p.Leu3653=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
19g.38528622delCA2697556579RYR1c.10900del (n.10900del)
c.10961del (p.Leu3654ArgfsTer10)
c.10946del (p.Leu3649ArgfsTer10)
c.10943del (p.Leu3648ArgfsTer10)
c.4348del
c.1768del
c.242del (p.Leu81ArgfsTer10)
c.10958del (p.Leu3653ArgfsTer10)
 ClinVar
19g.38528622T>ACA405649724RYR1c.10900T>A (n.10900T>A)
c.10961T>A (p.Leu3654Gln)
c.10946T>A (p.Leu3649Gln)
c.10943T>A (p.Leu3648Gln)
c.4348T>A
c.1768T>A
c.242T>A (p.Leu81Gln)
c.10958T>A (p.Leu3653Gln)
19g.38528622T>CCA405649725RYR1c.10900T>C (n.10900T>C)
c.10961T>C (p.Leu3654Pro)
c.10946T>C (p.Leu3649Pro)
c.10943T>C (p.Leu3648Pro)
c.4348T>C
c.1768T>C
c.242T>C (p.Leu81Pro)
c.10958T>C (p.Leu3653Pro)
 ClinVar dbSNP gnomAD v4
19g.38528622T>GCA405649726RYR1c.10900T>G (n.10900T>G)
c.10961T>G (p.Leu3654Arg)
c.10946T>G (p.Leu3649Arg)
c.10943T>G (p.Leu3648Arg)
c.4348T>G
c.1768T>G
c.242T>G (p.Leu81Arg)
c.10958T>G (p.Leu3653Arg)
19g.38528622T=CA2335067463RYR1c.10900T= (n.10900T=)
c.10961T= (p.Leu3654=)
c.10946T= (p.Leu3649=)
c.10943T= (p.Leu3648=)
c.4348T=
c.1768T=
c.242T= (p.Leu81=)
c.10958T= (p.Leu3653=)
19g.38528623G>ACA507354538RYR1c.10901G>A (n.10901G>A)
c.10962G>A (p.Leu3654=)
c.10947G>A (p.Leu3649=)
c.10944G>A (p.Leu3648=)
c.4349G>A
c.1769G>A
c.243G>A (p.Leu81=)
c.10959G>A (p.Leu3653=)
 ClinVar dbSNP gnomAD v4
19g.38528623G>CCA507354539RYR1c.10901G>C (n.10901G>C)
c.10962G>C (p.Leu3654=)
c.10947G>C (p.Leu3649=)
c.10944G>C (p.Leu3648=)
c.4349G>C
c.1769G>C
c.243G>C (p.Leu81=)
c.10959G>C (p.Leu3653=)
19g.38528623G=CA2335067464RYR1c.10901G= (n.10901G=)
c.10962G= (p.Leu3654=)
c.10947G= (p.Leu3649=)
c.10944G= (p.Leu3648=)
c.4349G=
c.1769G=
c.243G= (p.Leu81=)
c.10959G= (p.Leu3653=)
19g.38528623G>TCA507354540RYR1c.10901G>T (n.10901G>T)
c.10962G>T (p.Leu3654=)
c.10947G>T (p.Leu3649=)
c.10944G>T (p.Leu3648=)
c.4349G>T
c.1769G>T
c.243G>T (p.Leu81=)
c.10959G>T (p.Leu3653=)
19g.38528624G>ACA405649727RYR1c.10902G>A (n.10902G>A)
c.10963G>A (p.Glu3655Lys)
c.10948G>A (p.Glu3650Lys)
c.10945G>A (p.Glu3649Lys)
c.4350G>A
c.1770G>A
c.244G>A (p.Glu82Lys)
c.10960G>A (p.Glu3654Lys)
 gnomAD v4
19g.38528624G>CCA405649728RYR1c.10902G>C (n.10902G>C)
c.10963G>C (p.Glu3655Gln)
c.10948G>C (p.Glu3650Gln)
c.10945G>C (p.Glu3649Gln)
c.4350G>C
c.1770G>C
c.244G>C (p.Glu82Gln)
c.10960G>C (p.Glu3654Gln)
19g.38528624G>TCA405649729RYR1c.10902G>T (n.10902G>T)
c.10963G>T (p.Glu3655Ter)
c.10948G>T (p.Glu3650Ter)
c.10945G>T (p.Glu3649Ter)
c.4350G>T
c.1770G>T
c.244G>T (p.Glu82Ter)
c.10960G>T (p.Glu3654Ter)
19g.38528625A>CCA405649730RYR1c.10903A>C (n.10903A>C)
c.10964A>C (p.Glu3655Ala)
c.10949A>C (p.Glu3650Ala)
c.10946A>C (p.Glu3649Ala)
c.4351A>C
c.1771A>C
c.245A>C (p.Glu82Ala)
c.10961A>C (p.Glu3654Ala)
19g.38528625A>GCA405649731RYR1c.10903A>G (n.10903A>G)
c.10964A>G (p.Glu3655Gly)
c.10949A>G (p.Glu3650Gly)
c.10946A>G (p.Glu3649Gly)
c.4351A>G
c.1771A>G
c.245A>G (p.Glu82Gly)
c.10961A>G (p.Glu3654Gly)
19g.38528625A>TCA405649732RYR1c.10903A>T (n.10903A>T)
c.10964A>T (p.Glu3655Val)
c.10949A>T (p.Glu3650Val)
c.10946A>T (p.Glu3649Val)
c.4351A>T
c.1771A>T
c.245A>T (p.Glu82Val)
c.10961A>T (p.Glu3654Val)
19g.38528626G>ACA507354541RYR1c.10904G>A (n.10904G>A)
c.10965G>A (p.Glu3655=)
c.10950G>A (p.Glu3650=)
c.10947G>A (p.Glu3649=)
c.4352G>A
c.1772G>A
c.246G>A (p.Glu82=)
c.10962G>A (p.Glu3654=)
19g.38528626G>CCA405649733RYR1c.10904G>C (n.10904G>C)
c.10965G>C (p.Glu3655Asp)
c.10950G>C (p.Glu3650Asp)
c.10947G>C (p.Glu3649Asp)
c.4352G>C
c.1772G>C
c.246G>C (p.Glu82Asp)
c.10962G>C (p.Glu3654Asp)
19g.38528626G>TCA405649734RYR1c.10904G>T (n.10904G>T)
c.10965G>T (p.Glu3655Asp)
c.10950G>T (p.Glu3650Asp)
c.10947G>T (p.Glu3649Asp)
c.4352G>T
c.1772G>T
c.246G>T (p.Glu82Asp)
c.10962G>T (p.Glu3654Asp)
19g.38528626dupCA2584906278RYR1c.10904dup (n.10904dup)
c.10965dup (p.Ser3656GlufsTer10)
c.10950dup (p.Ser3651GlufsTer10)
c.10947dup (p.Ser3650GlufsTer10)
c.4352dup
c.1772dup
c.246dup (p.Ser83GlufsTer10)
c.10962dup (p.Ser3655GlufsTer10)
 gnomAD v4
19g.38528627A=CA2335067465RYR1c.10905A= (n.10905A=)
c.10966A= (p.Ser3656=)
c.10951A= (p.Ser3651=)
c.10948A= (p.Ser3650=)
c.4353A=
c.1773A=
c.247A= (p.Ser83=)
c.10963A= (p.Ser3655=)
19g.38528627A>CCA405649736RYR1c.10905A>C (n.10905A>C)
c.10966A>C (p.Ser3656Arg)
c.10951A>C (p.Ser3651Arg)
c.10948A>C (p.Ser3650Arg)
c.4353A>C
c.1773A>C
c.247A>C (p.Ser83Arg)
c.10963A>C (p.Ser3655Arg)
19g.38528627A>GCA055474RYR1c.10905A>G (n.10905A>G)
c.10966A>G (p.Ser3656Gly)
c.10951A>G (p.Ser3651Gly)
c.10948A>G (p.Ser3650Gly)
c.4353A>G
c.1773A>G
c.247A>G (p.Ser83Gly)
c.10963A>G (p.Ser3655Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38528627A>TCA405649735RYR1c.10905A>T (n.10905A>T)
c.10966A>T (p.Ser3656Cys)
c.10951A>T (p.Ser3651Cys)
c.10948A>T (p.Ser3650Cys)
c.4353A>T
c.1773A>T
c.247A>T (p.Ser83Cys)
c.10963A>T (p.Ser3655Cys)
19g.38528628G>ACA405649737RYR1c.10906G>A (n.10906G>A)
c.10967G>A (p.Ser3656Asn)
c.10952G>A (p.Ser3651Asn)
c.10949G>A (p.Ser3650Asn)
c.4354G>A
c.1774G>A
c.248G>A (p.Ser83Asn)
c.10964G>A (p.Ser3655Asn)
19g.38528628G>CCA405649738RYR1c.10906G>C (n.10906G>C)
c.10967G>C (p.Ser3656Thr)
c.10952G>C (p.Ser3651Thr)
c.10949G>C (p.Ser3650Thr)
c.4354G>C
c.1774G>C
c.248G>C (p.Ser83Thr)
c.10964G>C (p.Ser3655Thr)
19g.38528628G>TCA405649739RYR1c.10906G>T (n.10906G>T)
c.10967G>T (p.Ser3656Ile)
c.10952G>T (p.Ser3651Ile)
c.10949G>T (p.Ser3650Ile)
c.4354G>T
c.1774G>T
c.248G>T (p.Ser83Ile)
c.10964G>T (p.Ser3655Ile)
19g.38528628_38528633delinsAGGGACCA080096RYR1c.10906_10911delinsAGGGAC (n.10906_10911delinsAGGGAC)
c.10967_10972delinsAGGGAC (p.Ser3656_Lys3658delinsLysGlyGln)
c.10952_10957delinsAGGGAC (p.Ser3651_Lys3653delinsLysGlyGln)
c.10949_10954delinsAGGGAC (p.Ser3650_Lys3652delinsLysGlyGln)
c.4354_4359delinsAGGGAC
c.1774_1779delinsAGGGAC
c.248_253delinsAGGGAC (p.Ser83_Lys85delinsLysGlyGln)
c.10964_10969delinsAGGGAC (p.Ser3655_Lys3657delinsLysGlyGln)
19g.38528629C>ACA405649740RYR1c.10907C>A (n.10907C>A)
c.10968C>A (p.Ser3656Arg)
c.10953C>A (p.Ser3651Arg)
c.10950C>A (p.Ser3650Arg)
c.4355C>A
c.1775C>A
c.249C>A (p.Ser83Arg)
c.10965C>A (p.Ser3655Arg)
 gnomAD v4
19g.38528629C>GCA405649741RYR1c.10907C>G (n.10907C>G)
c.10968C>G (p.Ser3656Arg)
c.10953C>G (p.Ser3651Arg)
c.10950C>G (p.Ser3650Arg)
c.4355C>G
c.1775C>G
c.249C>G (p.Ser83Arg)
c.10965C>G (p.Ser3655Arg)
19g.38528629C>TCA507354542RYR1c.10907C>T (n.10907C>T)
c.10968C>T (p.Ser3656=)
c.10953C>T (p.Ser3651=)
c.10950C>T (p.Ser3650=)
c.4355C>T
c.1775C>T
c.249C>T (p.Ser83=)
c.10965C>T (p.Ser3655=)
 gnomAD v4
19g.38528630T>ACA405649744RYR1c.10908T>A (n.10908T>A)
c.10969T>A (p.Tyr3657Asn)
c.10954T>A (p.Tyr3652Asn)
c.10951T>A (p.Tyr3651Asn)
c.4356T>A
c.1776T>A
c.250T>A (p.Tyr84Asn)
c.10966T>A (p.Tyr3656Asn)
19g.38528630T>CCA405649742RYR1c.10908T>C (n.10908T>C)
c.10969T>C (p.Tyr3657His)
c.10954T>C (p.Tyr3652His)
c.10951T>C (p.Tyr3651His)
c.4356T>C
c.1776T>C
c.250T>C (p.Tyr84His)
c.10966T>C (p.Tyr3656His)
19g.38528630T>GCA405649743RYR1c.10908T>G (n.10908T>G)
c.10969T>G (p.Tyr3657Asp)
c.10954T>G (p.Tyr3652Asp)
c.10951T>G (p.Tyr3651Asp)
c.4356T>G
c.1776T>G
c.250T>G (p.Tyr84Asp)
c.10966T>G (p.Tyr3656Asp)
19g.38528631A=CA2335067466RYR1c.10909A= (n.10909A=)
c.10970A= (p.Tyr3657=)
c.10955A= (p.Tyr3652=)
c.10952A= (p.Tyr3651=)
c.4357A=
c.1777A=
c.251A= (p.Tyr84=)
c.10967A= (p.Tyr3656=)
19g.38528631A>CCA405649745RYR1c.10909A>C (n.10909A>C)
c.10970A>C (p.Tyr3657Ser)
c.10955A>C (p.Tyr3652Ser)
c.10952A>C (p.Tyr3651Ser)
c.4357A>C
c.1777A>C
c.251A>C (p.Tyr84Ser)
c.10967A>C (p.Tyr3656Ser)
19g.38528631A>GCA055481RYR1c.10909A>G (n.10909A>G)
c.10970A>G (p.Tyr3657Cys)
c.10955A>G (p.Tyr3652Cys)
c.10952A>G (p.Tyr3651Cys)
c.4357A>G
c.1777A>G
c.251A>G (p.Tyr84Cys)
c.10967A>G (p.Tyr3656Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38528631A>TCA405649746RYR1c.10909A>T (n.10909A>T)
c.10970A>T (p.Tyr3657Phe)
c.10955A>T (p.Tyr3652Phe)
c.10952A>T (p.Tyr3651Phe)
c.4357A>T
c.1777A>T
c.251A>T (p.Tyr84Phe)
c.10967A>T (p.Tyr3656Phe)
19g.38528632C>ACA405649747RYR1c.10910C>A (n.10910C>A)
c.10971C>A (p.Tyr3657Ter)
c.10956C>A (p.Tyr3652Ter)
c.10953C>A (p.Tyr3651Ter)
c.4358C>A
c.1778C>A
c.252C>A (p.Tyr84Ter)
c.10968C>A (p.Tyr3656Ter)
19g.38528632C=CA2335067467RYR1c.10910C= (n.10910C=)
c.10971C= (p.Tyr3657=)
c.10956C= (p.Tyr3652=)
c.10953C= (p.Tyr3651=)
c.4358C=
c.1778C=
c.252C= (p.Tyr84=)
c.10968C= (p.Tyr3656=)
19g.38528632C>GCA405649748RYR1c.10910C>G (n.10910C>G)
c.10971C>G (p.Tyr3657Ter)
c.10956C>G (p.Tyr3652Ter)
c.10953C>G (p.Tyr3651Ter)
c.4358C>G
c.1778C>G
c.252C>G (p.Tyr84Ter)
c.10968C>G (p.Tyr3656Ter)
19g.38528632C>TCA080129RYR1c.10910C>T (n.10910C>T)
c.10971C>T (p.Tyr3657=)
c.10956C>T (p.Tyr3652=)
c.10953C>T (p.Tyr3651=)
c.4358C>T
c.1778C>T
c.252C>T (p.Tyr84=)
c.10968C>T (p.Tyr3656=)
 dbSNP gnomAD v3 gnomAD v4
19g.38528633A=CA2335067468RYR1c.10911A= (n.10911A=)
c.10972A= (p.Lys3658=)
c.10957A= (p.Lys3653=)
c.10954A= (p.Lys3652=)
c.4359A=
c.1779A=
c.253A= (p.Lys85=)
c.10969A= (p.Lys3657=)
19g.38528633A>CCA405649749RYR1c.10911A>C (n.10911A>C)
c.10972A>C (p.Lys3658Gln)
c.10957A>C (p.Lys3653Gln)
c.10954A>C (p.Lys3652Gln)
c.4359A>C
c.1779A>C
c.253A>C (p.Lys85Gln)
c.10969A>C (p.Lys3657Gln)
19g.38528633A>GCA080130RYR1c.10911A>G (n.10911A>G)
c.10972A>G (p.Lys3658Glu)
c.10957A>G (p.Lys3653Glu)
c.10954A>G (p.Lys3652Glu)
c.4359A>G
c.1779A>G
c.253A>G (p.Lys85Glu)
c.10969A>G (p.Lys3657Glu)
 dbSNP gnomAD v2 gnomAD v4
19g.38528633A>TCA405649750RYR1c.10911A>T (n.10911A>T)
c.10972A>T (p.Lys3658Ter)
c.10957A>T (p.Lys3653Ter)
c.10954A>T (p.Lys3652Ter)
c.4359A>T
c.1779A>T
c.253A>T (p.Lys85Ter)
c.10969A>T (p.Lys3657Ter)
19g.38528634A>CCA405649751RYR1c.10912A>C (n.10912A>C)
c.10973A>C (p.Lys3658Thr)
c.10958A>C (p.Lys3653Thr)
c.10955A>C (p.Lys3652Thr)
c.4360A>C
c.1780A>C
c.254A>C (p.Lys85Thr)
c.10970A>C (p.Lys3657Thr)
19g.38528634A>GCA405649752RYR1c.10912A>G (n.10912A>G)
c.10973A>G (p.Lys3658Arg)
c.10958A>G (p.Lys3653Arg)
c.10955A>G (p.Lys3652Arg)
c.4360A>G
c.1780A>G
c.254A>G (p.Lys85Arg)
c.10970A>G (p.Lys3657Arg)
19g.38528634A>TCA405649753RYR1c.10912A>T (n.10912A>T)
c.10973A>T (p.Lys3658Met)
c.10958A>T (p.Lys3653Met)
c.10955A>T (p.Lys3652Met)
c.4360A>T
c.1780A>T
c.254A>T (p.Lys85Met)
c.10970A>T (p.Lys3657Met)
 gnomAD v4
19g.38528635G>ACA507354543RYR1c.10913G>A (n.10913G>A)
c.10974G>A (p.Lys3658=)
c.10959G>A (p.Lys3653=)
c.10956G>A (p.Lys3652=)
c.4361G>A
c.1781G>A
c.255G>A (p.Lys85=)
c.10971G>A (p.Lys3657=)
19g.38528635G>CCA405649754RYR1c.10913G>C (n.10913G>C)
c.10974G>C (p.Lys3658Asn)
c.10959G>C (p.Lys3653Asn)
c.10956G>C (p.Lys3652Asn)
c.4361G>C
c.1781G>C
c.255G>C (p.Lys85Asn)
c.10971G>C (p.Lys3657Asn)
19g.38528635G>TCA405649755RYR1c.10913G>T (n.10913G>T)
c.10974G>T (p.Lys3658Asn)
c.10959G>T (p.Lys3653Asn)
c.10956G>T (p.Lys3652Asn)
c.4361G>T
c.1781G>T
c.255G>T (p.Lys85Asn)
c.10971G>T (p.Lys3657Asn)
19g.38528636G>ACA405649756RYR1c.10914G>A (n.10914G>A)
c.10975G>A (p.Ala3659Thr)
c.10960G>A (p.Ala3654Thr)
c.10957G>A (p.Ala3653Thr)
c.4362G>A
c.1782G>A
c.256G>A (p.Ala86Thr)
c.10972G>A (p.Ala3658Thr)
19g.38528636G>CCA055486RYR1c.10914G>C (n.10914G>C)
c.10975G>C (p.Ala3659Pro)
c.10960G>C (p.Ala3654Pro)
c.10957G>C (p.Ala3653Pro)
c.4362G>C
c.1782G>C
c.256G>C (p.Ala86Pro)
c.10972G>C (p.Ala3658Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38528636G=CA2335067469RYR1c.10914G= (n.10914G=)
c.10975G= (p.Ala3659=)
c.10960G= (p.Ala3654=)
c.10957G= (p.Ala3653=)
c.4362G=
c.1782G=
c.256G= (p.Ala86=)
c.10972G= (p.Ala3658=)
19g.38528636G>TCA405649757RYR1c.10914G>T (n.10914G>T)
c.10975G>T (p.Ala3659Ser)
c.10960G>T (p.Ala3654Ser)
c.10957G>T (p.Ala3653Ser)
c.4362G>T
c.1782G>T
c.256G>T (p.Ala86Ser)
c.10972G>T (p.Ala3658Ser)
19g.38528637C>ACA405649758RYR1c.10915C>A (n.10915C>A)
c.10976C>A (p.Ala3659Asp)
c.10961C>A (p.Ala3654Asp)
c.10958C>A (p.Ala3653Asp)
c.4363C>A
c.1783C>A
c.257C>A (p.Ala86Asp)
c.10973C>A (p.Ala3658Asp)
 dbSNP gnomAD v2 gnomAD v4
19g.38528637C=CA2335067470RYR1c.10915C= (n.10915C=)
c.10976C= (p.Ala3659=)
c.10961C= (p.Ala3654=)
c.10958C= (p.Ala3653=)
c.4363C=
c.1783C=
c.257C= (p.Ala86=)
c.10973C= (p.Ala3658=)
19g.38528637C>GCA405649759RYR1c.10915C>G (n.10915C>G)
c.10976C>G (p.Ala3659Gly)
c.10961C>G (p.Ala3654Gly)
c.10958C>G (p.Ala3653Gly)
c.4363C>G
c.1783C>G
c.257C>G (p.Ala86Gly)
c.10973C>G (p.Ala3658Gly)
19g.38528637C>TCA405649760RYR1c.10915C>T (n.10915C>T)
c.10976C>T (p.Ala3659Val)
c.10961C>T (p.Ala3654Val)
c.10958C>T (p.Ala3653Val)
c.4363C>T
c.1783C>T
c.257C>T (p.Ala86Val)
c.10973C>T (p.Ala3658Val)
 gnomAD v4
19g.38528638T>ACA507354544RYR1c.10916T>A (n.10916T>A)
c.10977T>A (p.Ala3659=)
c.10962T>A (p.Ala3654=)
c.10959T>A (p.Ala3653=)
c.4364T>A
c.1784T>A
c.258T>A (p.Ala86=)
c.10974T>A (p.Ala3658=)
19g.38528638T>CCA507354545RYR1c.10916T>C (n.10916T>C)
c.10977T>C (p.Ala3659=)
c.10962T>C (p.Ala3654=)
c.10959T>C (p.Ala3653=)
c.4364T>C
c.1784T>C
c.258T>C (p.Ala86=)
c.10974T>C (p.Ala3658=)
19g.38528638T>GCA507354546RYR1c.10916T>G (n.10916T>G)
c.10977T>G (p.Ala3659=)
c.10962T>G (p.Ala3654=)
c.10959T>G (p.Ala3653=)
c.4364T>G
c.1784T>G
c.258T>G (p.Ala86=)
c.10974T>G (p.Ala3658=)
19g.38528639G>ACA405649762RYR1c.10917G>A (n.10917G>A)
c.10978G>A (p.Ala3660Thr)
c.10963G>A (p.Ala3655Thr)
c.10960G>A (p.Ala3654Thr)
c.4365G>A
c.1785G>A
c.259G>A (p.Ala87Thr)
c.10975G>A (p.Ala3659Thr)
19g.38528639G>CCA055495RYR1c.10917G>C (n.10917G>C)
c.10978G>C (p.Ala3660Pro)
c.10963G>C (p.Ala3655Pro)
c.10960G>C (p.Ala3654Pro)
c.4365G>C
c.1785G>C
c.259G>C (p.Ala87Pro)
c.10975G>C (p.Ala3659Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38528639G=CA2335067471RYR1c.10917G= (n.10917G=)
c.10978G= (p.Ala3660=)
c.10963G= (p.Ala3655=)
c.10960G= (p.Ala3654=)
c.4365G=
c.1785G=
c.259G= (p.Ala87=)
c.10975G= (p.Ala3659=)
19g.38528639G>TCA405649761RYR1c.10917G>T (n.10917G>T)
c.10978G>T (p.Ala3660Ser)
c.10963G>T (p.Ala3655Ser)
c.10960G>T (p.Ala3654Ser)
c.4365G>T
c.1785G>T
c.259G>T (p.Ala87Ser)
c.10975G>T (p.Ala3659Ser)
 gnomAD v4
19g.38528640C>ACA405649763RYR1c.10918C>A (n.10918C>A)
c.10979C>A (p.Ala3660Glu)
c.10964C>A (p.Ala3655Glu)
c.10961C>A (p.Ala3654Glu)
c.4366C>A
c.1786C>A
c.260C>A (p.Ala87Glu)
c.10976C>A (p.Ala3659Glu)
19g.38528640C=CA2335067472RYR1c.10918C= (n.10918C=)
c.10979C= (p.Ala3660=)
c.10964C= (p.Ala3655=)
c.10961C= (p.Ala3654=)
c.4366C=
c.1786C=
c.260C= (p.Ala87=)
c.10976C= (p.Ala3659=)
19g.38528640C>GCA405649765RYR1c.10918C>G (n.10918C>G)
c.10979C>G (p.Ala3660Gly)
c.10964C>G (p.Ala3655Gly)
c.10961C>G (p.Ala3654Gly)
c.4366C>G
c.1786C>G
c.260C>G (p.Ala87Gly)
c.10976C>G (p.Ala3659Gly)
19g.38528640C>TCA405649764RYR1c.10918C>T (n.10918C>T)
c.10979C>T (p.Ala3660Val)
c.10964C>T (p.Ala3655Val)
c.10961C>T (p.Ala3654Val)
c.4366C>T
c.1786C>T
c.260C>T (p.Ala87Val)
c.10976C>T (p.Ala3659Val)
 dbSNP gnomAD v3 gnomAD v4
19g.38528641A=CA2335067473RYR1c.10919A= (n.10919A=)
c.10980A= (p.Ala3660=)
c.10965A= (p.Ala3655=)
c.10962A= (p.Ala3654=)
c.4367A=
c.1787A=
c.261A= (p.Ala87=)
c.10977A= (p.Ala3659=)
19g.38528641A>CCA507354547RYR1c.10919A>C (n.10919A>C)
c.10980A>C (p.Ala3660=)
c.10965A>C (p.Ala3655=)
c.10962A>C (p.Ala3654=)
c.4367A>C
c.1787A>C
c.261A>C (p.Ala87=)
c.10977A>C (p.Ala3659=)
19g.38528641A>GCA055504RYR1c.10919A>G (n.10919A>G)
c.10980A>G (p.Ala3660=)
c.10965A>G (p.Ala3655=)
c.10962A>G (p.Ala3654=)
c.4367A>G
c.1787A>G
c.261A>G (p.Ala87=)
c.10977A>G (p.Ala3659=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38528641A>TCA507354548RYR1c.10919A>T (n.10919A>T)
c.10980A>T (p.Ala3660=)
c.10965A>T (p.Ala3655=)
c.10962A>T (p.Ala3654=)
c.4367A>T
c.1787A>T
c.261A>T (p.Ala87=)
c.10977A>T (p.Ala3659=)
19g.38528642T>ACA405649766RYR1c.10920T>A (n.10920T>A)
c.10981T>A (p.Trp3661Arg)
c.10966T>A (p.Trp3656Arg)
c.10963T>A (p.Trp3655Arg)
c.4368T>A
c.1788T>A
c.262T>A (p.Trp88Arg)
c.10978T>A (p.Trp3660Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38528642T>CCA405649767RYR1c.10920T>C (n.10920T>C)
c.10981T>C (p.Trp3661Arg)
c.10966T>C (p.Trp3656Arg)
c.10963T>C (p.Trp3655Arg)
c.4368T>C
c.1788T>C
c.262T>C (p.Trp88Arg)
c.10978T>C (p.Trp3660Arg)
19g.38528642T>GCA405649768RYR1c.10920T>G (n.10920T>G)
c.10981T>G (p.Trp3661Gly)
c.10966T>G (p.Trp3656Gly)
c.10963T>G (p.Trp3655Gly)
c.4368T>G
c.1788T>G
c.262T>G (p.Trp88Gly)
c.10978T>G (p.Trp3660Gly)
19g.38528642T=CA2335067474RYR1c.10920T= (n.10920T=)
c.10981T= (p.Trp3661=)
c.10966T= (p.Trp3656=)
c.10963T= (p.Trp3655=)
c.4368T=
c.1788T=
c.262T= (p.Trp88=)
c.10978T= (p.Trp3660=)
19g.38528643G>ACA405649769RYR1c.10921G>A (n.10921G>A)
c.10982G>A (p.Trp3661Ter)
c.10967G>A (p.Trp3656Ter)
c.10964G>A (p.Trp3655Ter)
c.4369G>A
c.1789G>A
c.263G>A (p.Trp88Ter)
c.10979G>A (p.Trp3660Ter)
19g.38528643G>CCA405649770RYR1c.10921G>C (n.10921G>C)
c.10982G>C (p.Trp3661Ser)
c.10967G>C (p.Trp3656Ser)
c.10964G>C (p.Trp3655Ser)
c.4369G>C
c.1789G>C
c.263G>C (p.Trp88Ser)
c.10979G>C (p.Trp3660Ser)
19g.38528643G>TCA405649771RYR1c.10921G>T (n.10921G>T)
c.10982G>T (p.Trp3661Leu)
c.10967G>T (p.Trp3656Leu)
c.10964G>T (p.Trp3655Leu)
c.4369G>T
c.1789G>T
c.263G>T (p.Trp88Leu)
c.10979G>T (p.Trp3660Leu)
19g.38528644G>ACA405649772RYR1c.10922G>A (n.10922G>A)
c.10983G>A (p.Trp3661Ter)
c.10968G>A (p.Trp3656Ter)
c.10965G>A (p.Trp3655Ter)
c.4370G>A
c.1790G>A
c.264G>A (p.Trp88Ter)
c.10980G>A (p.Trp3660Ter)
 gnomAD v4
19g.38528644G>CCA405649773RYR1c.10922G>C (n.10922G>C)
c.10983G>C (p.Trp3661Cys)
c.10968G>C (p.Trp3656Cys)
c.10965G>C (p.Trp3655Cys)
c.4370G>C
c.1790G>C
c.264G>C (p.Trp88Cys)
c.10980G>C (p.Trp3660Cys)
19g.38528644G>TCA405649774RYR1c.10922G>T (n.10922G>T)
c.10983G>T (p.Trp3661Cys)
c.10968G>T (p.Trp3656Cys)
c.10965G>T (p.Trp3655Cys)
c.4370G>T
c.1790G>T
c.264G>T (p.Trp88Cys)
c.10980G>T (p.Trp3660Cys)
19g.38528645A>CCA405649776RYR1c.10923A>C (n.10923A>C)
c.10984A>C (p.Ile3662Leu)
c.10969A>C (p.Ile3657Leu)
c.10966A>C (p.Ile3656Leu)
c.4371A>C
c.1791A>C
c.265A>C (p.Ile89Leu)
c.10981A>C (p.Ile3661Leu)
19g.38528645A>GCA080131RYR1c.10923A>G (n.10923A>G)
c.10984A>G (p.Ile3662Val)
c.10969A>G (p.Ile3657Val)
c.10966A>G (p.Ile3656Val)
c.4371A>G
c.1791A>G
c.265A>G (p.Ile89Val)
c.10981A>G (p.Ile3661Val)
19g.38528645A>TCA405649775RYR1c.10923A>T (n.10923A>T)
c.10984A>T (p.Ile3662Phe)
c.10969A>T (p.Ile3657Phe)
c.10966A>T (p.Ile3656Phe)
c.4371A>T
c.1791A>T
c.265A>T (p.Ile89Phe)
c.10981A>T (p.Ile3661Phe)
19g.38528646T>ACA405649777RYR1c.10924T>A (n.10924T>A)
c.10985T>A (p.Ile3662Asn)
c.10970T>A (p.Ile3657Asn)
c.10967T>A (p.Ile3656Asn)
c.4372T>A
c.1792T>A
c.266T>A (p.Ile89Asn)
c.10982T>A (p.Ile3661Asn)
19g.38528646T>CCA405649778RYR1c.10924T>C (n.10924T>C)
c.10985T>C (p.Ile3662Thr)
c.10970T>C (p.Ile3657Thr)
c.10967T>C (p.Ile3656Thr)
c.4372T>C
c.1792T>C
c.266T>C (p.Ile89Thr)
c.10982T>C (p.Ile3661Thr)
19g.38528646T>GCA405649779RYR1c.10924T>G (n.10924T>G)
c.10985T>G (p.Ile3662Ser)
c.10970T>G (p.Ile3657Ser)
c.10967T>G (p.Ile3656Ser)
c.4372T>G
c.1792T>G
c.266T>G (p.Ile89Ser)
c.10982T>G (p.Ile3661Ser)
19g.38528646dupCA2584906309RYR1c.10924dup (n.10924dup)
c.10985dup (p.Leu3663ProfsTer3)
c.10970dup (p.Leu3658ProfsTer3)
c.10967dup (p.Leu3657ProfsTer3)
c.4372dup
c.1792dup
c.266dup (p.Leu90ProfsTer3)
c.10982dup (p.Leu3662ProfsTer3)
 gnomAD v4
19g.38528646_38528775delinsCCTCAACA2499225474RYR1c.10924_10973+80delinsCCTCAA
c.10985_11034+80delinsCCTCAA
c.10970_11019+80delinsCCTCAA
c.10967_11016+80delinsCCTCAA
c.4372_4421+80delinsCCTCAA
c.1792_1841+80delinsCCTCAA
c.266_315+80delinsCCTCAA
c.10982_11031+80delinsCCTCAA
 ClinVar dbSNP
19g.38528647C>ACA507354549RYR1c.10925C>A (n.10925C>A)
c.10986C>A (p.Ile3662=)
c.10971C>A (p.Ile3657=)
c.10968C>A (p.Ile3656=)
c.4373C>A
c.1793C>A
c.267C>A (p.Ile89=)
c.10983C>A (p.Ile3661=)
19g.38528647C>GCA405649780RYR1c.10925C>G (n.10925C>G)
c.10986C>G (p.Ile3662Met)
c.10971C>G (p.Ile3657Met)
c.10968C>G (p.Ile3656Met)
c.4373C>G
c.1793C>G
c.267C>G (p.Ile89Met)
c.10983C>G (p.Ile3661Met)
19g.38528647C>TCA507354550RYR1c.10925C>T (n.10925C>T)
c.10986C>T (p.Ile3662=)
c.10971C>T (p.Ile3657=)
c.10968C>T (p.Ile3656=)
c.4373C>T
c.1793C>T
c.267C>T (p.Ile89=)
c.10983C>T (p.Ile3661=)
19g.38528648C>ACA405649781RYR1c.10926C>A (n.10926C>A)
c.10987C>A (p.Leu3663Met)
c.10972C>A (p.Leu3658Met)
c.10969C>A (p.Leu3657Met)
c.4374C>A
c.1794C>A
c.268C>A (p.Leu90Met)
c.10984C>A (p.Leu3662Met)
19g.38528648C>GCA405649782RYR1c.10926C>G (n.10926C>G)
c.10987C>G (p.Leu3663Val)
c.10972C>G (p.Leu3658Val)
c.10969C>G (p.Leu3657Val)
c.4374C>G
c.1794C>G
c.268C>G (p.Leu90Val)
c.10984C>G (p.Leu3662Val)
19g.38528648C>TCA507354551RYR1c.10926C>T (n.10926C>T)
c.10987C>T (p.Leu3663=)
c.10972C>T (p.Leu3658=)
c.10969C>T (p.Leu3657=)
c.4374C>T
c.1794C>T
c.268C>T (p.Leu90=)
c.10984C>T (p.Leu3662=)
19g.38528649T>ACA405649783RYR1c.10927T>A (n.10927T>A)
c.10988T>A (p.Leu3663Gln)
c.10973T>A (p.Leu3658Gln)
c.10970T>A (p.Leu3657Gln)
c.4375T>A
c.1795T>A
c.269T>A (p.Leu90Gln)
c.10985T>A (p.Leu3662Gln)
19g.38528649T>CCA405649784RYR1c.10927T>C (n.10927T>C)
c.10988T>C (p.Leu3663Pro)
c.10973T>C (p.Leu3658Pro)
c.10970T>C (p.Leu3657Pro)
c.4375T>C
c.1795T>C
c.269T>C (p.Leu90Pro)
c.10985T>C (p.Leu3662Pro)
19g.38528649T>GCA405649785RYR1c.10927T>G (n.10927T>G)
c.10988T>G (p.Leu3663Arg)
c.10973T>G (p.Leu3658Arg)
c.10970T>G (p.Leu3657Arg)
c.4375T>G
c.1795T>G
c.269T>G (p.Leu90Arg)
c.10985T>G (p.Leu3662Arg)
19g.38528650G>ACA507354552RYR1c.10928G>A (n.10928G>A)
c.10989G>A (p.Leu3663=)
c.10974G>A (p.Leu3658=)
c.10971G>A (p.Leu3657=)
c.4376G>A
c.1796G>A
c.270G>A (p.Leu90=)
c.10986G>A (p.Leu3662=)
19g.38528650G>CCA507354553RYR1c.10928G>C (n.10928G>C)
c.10989G>C (p.Leu3663=)
c.10974G>C (p.Leu3658=)
c.10971G>C (p.Leu3657=)
c.4376G>C
c.1796G>C
c.270G>C (p.Leu90=)
c.10986G>C (p.Leu3662=)
19g.38528650G>TCA507354554RYR1c.10928G>T (n.10928G>T)
c.10989G>T (p.Leu3663=)
c.10974G>T (p.Leu3658=)
c.10971G>T (p.Leu3657=)
c.4376G>T
c.1796G>T
c.270G>T (p.Leu90=)
c.10986G>T (p.Leu3662=)
19g.38528651A=CA2335067475RYR1c.10929A= (n.10929A=)
c.10990A= (p.Thr3664=)
c.10975A= (p.Thr3659=)
c.10972A= (p.Thr3658=)
c.4377A=
c.1797A=
c.271A= (p.Thr91=)
c.10987A= (p.Thr3663=)
19g.38528651A>CCA405649786RYR1c.10929A>C (n.10929A>C)
c.10990A>C (p.Thr3664Pro)
c.10975A>C (p.Thr3659Pro)
c.10972A>C (p.Thr3658Pro)
c.4377A>C
c.1797A>C
c.271A>C (p.Thr91Pro)
c.10987A>C (p.Thr3663Pro)
19g.38528651A>GCA405649787RYR1c.10929A>G (n.10929A>G)
c.10990A>G (p.Thr3664Ala)
c.10975A>G (p.Thr3659Ala)
c.10972A>G (p.Thr3658Ala)
c.4377A>G
c.1797A>G
c.271A>G (p.Thr91Ala)
c.10987A>G (p.Thr3663Ala)
 dbSNP gnomAD v4
19g.38528651A>TCA405649788RYR1c.10929A>T (n.10929A>T)
c.10990A>T (p.Thr3664Ser)
c.10975A>T (p.Thr3659Ser)
c.10972A>T (p.Thr3658Ser)
c.4377A>T
c.1797A>T
c.271A>T (p.Thr91Ser)
c.10987A>T (p.Thr3663Ser)
19g.38528652C>ACA405649790RYR1c.10930C>A (n.10930C>A)
c.10991C>A (p.Thr3664Asn)
c.10976C>A (p.Thr3659Asn)
c.10973C>A (p.Thr3658Asn)
c.4378C>A
c.1798C>A
c.272C>A (p.Thr91Asn)
c.10988C>A (p.Thr3663Asn)
19g.38528652C=CA2335067476RYR1c.10930C= (n.10930C=)
c.10991C= (p.Thr3664=)
c.10976C= (p.Thr3659=)
c.10973C= (p.Thr3658=)
c.4378C=
c.1798C=
c.272C= (p.Thr91=)
c.10988C= (p.Thr3663=)
19g.38528652C>GCA308082052RYR1c.10930C>G (n.10930C>G)
c.10991C>G (p.Thr3664Ser)
c.10976C>G (p.Thr3659Ser)
c.10973C>G (p.Thr3658Ser)
c.4378C>G
c.1798C>G
c.272C>G (p.Thr91Ser)
c.10988C>G (p.Thr3663Ser)
 dbSNP gnomAD v3 gnomAD v4
19g.38528652C>TCA405649789RYR1c.10930C>T (n.10930C>T)
c.10991C>T (p.Thr3664Ile)
c.10976C>T (p.Thr3659Ile)
c.10973C>T (p.Thr3658Ile)
c.4378C>T
c.1798C>T
c.272C>T (p.Thr91Ile)
c.10988C>T (p.Thr3663Ile)
 gnomAD v4
19g.38528652_38528654delinsAGCCA080102RYR1c.10930_10932delinsAGC (n.10930_10932delinsAGC)
c.10991_10993delinsAGC (p.Thr3664_Glu3665delinsLysGln)
c.10976_10978delinsAGC (p.Thr3659_Glu3660delinsLysGln)
c.10973_10975delinsAGC (p.Thr3658_Glu3659delinsLysGln)
c.4378_4380delinsAGC
c.1798_1800delinsAGC
c.272_274delinsAGC (p.Thr91_Glu92delinsLysGln)
c.10988_10990delinsAGC (p.Thr3663_Glu3664delinsLysGln)
19g.38528653T>ACA507354555RYR1c.10931T>A (n.10931T>A)
c.10992T>A (p.Thr3664=)
c.10977T>A (p.Thr3659=)
c.10974T>A (p.Thr3658=)
c.4379T>A
c.1799T>A
c.273T>A (p.Thr91=)
c.10989T>A (p.Thr3663=)
19g.38528653T>CCA507354556RYR1c.10931T>C (n.10931T>C)
c.10992T>C (p.Thr3664=)
c.10977T>C (p.Thr3659=)
c.10974T>C (p.Thr3658=)
c.4379T>C
c.1799T>C
c.273T>C (p.Thr91=)
c.10989T>C (p.Thr3663=)
 ClinVar
19g.38528653T>GCA507354557RYR1c.10931T>G (n.10931T>G)
c.10992T>G (p.Thr3664=)
c.10977T>G (p.Thr3659=)
c.10974T>G (p.Thr3658=)
c.4379T>G
c.1799T>G
c.273T>G (p.Thr91=)
c.10989T>G (p.Thr3663=)
19g.38528654G>ACA405649791RYR1c.10932G>A (n.10932G>A)
c.10993G>A (p.Glu3665Lys)
c.10978G>A (p.Glu3660Lys)
c.10975G>A (p.Glu3659Lys)
c.4380G>A
c.1800G>A
c.274G>A (p.Glu92Lys)
c.10990G>A (p.Glu3664Lys)
19g.38528654G>CCA080133RYR1c.10932G>C (n.10932G>C)
c.10993G>C (p.Glu3665Gln)
c.10978G>C (p.Glu3660Gln)
c.10975G>C (p.Glu3659Gln)
c.4380G>C
c.1800G>C
c.274G>C (p.Glu92Gln)
c.10990G>C (p.Glu3664Gln)
19g.38528654G>TCA405649792RYR1c.10932G>T (n.10932G>T)
c.10993G>T (p.Glu3665Ter)
c.10978G>T (p.Glu3660Ter)
c.10975G>T (p.Glu3659Ter)
c.4380G>T
c.1800G>T
c.274G>T (p.Glu92Ter)
c.10990G>T (p.Glu3664Ter)
19g.38528655A>CCA405649793RYR1c.10933A>C (n.10933A>C)
c.10994A>C (p.Glu3665Ala)
c.10979A>C (p.Glu3660Ala)
c.10976A>C (p.Glu3659Ala)
c.4381A>C
c.1801A>C
c.275A>C (p.Glu92Ala)
c.10991A>C (p.Glu3664Ala)
19g.38528655A>GCA405649794RYR1c.10933A>G (n.10933A>G)
c.10994A>G (p.Glu3665Gly)
c.10979A>G (p.Glu3660Gly)
c.10976A>G (p.Glu3659Gly)
c.4381A>G
c.1801A>G
c.275A>G (p.Glu92Gly)
c.10991A>G (p.Glu3664Gly)
19g.38528655A>TCA405649795RYR1c.10933A>T (n.10933A>T)
c.10994A>T (p.Glu3665Val)
c.10979A>T (p.Glu3660Val)
c.10976A>T (p.Glu3659Val)
c.4381A>T
c.1801A>T
c.275A>T (p.Glu92Val)
c.10991A>T (p.Glu3664Val)
19g.38528656A>CCA405649797RYR1c.10934A>C (n.10934A>C)
c.10995A>C (p.Glu3665Asp)
c.10980A>C (p.Glu3660Asp)
c.10977A>C (p.Glu3659Asp)
c.4382A>C
c.1802A>C
c.276A>C (p.Glu92Asp)
c.10992A>C (p.Glu3664Asp)
 gnomAD v4 COSMIC
19g.38528656A>GCA507354558RYR1c.10934A>G (n.10934A>G)
c.10995A>G (p.Glu3665=)
c.10980A>G (p.Glu3660=)
c.10977A>G (p.Glu3659=)
c.4382A>G
c.1802A>G
c.276A>G (p.Glu92=)
c.10992A>G (p.Glu3664=)
19g.38528656A>TCA405649796RYR1c.10934A>T (n.10934A>T)
c.10995A>T (p.Glu3665Asp)
c.10980A>T (p.Glu3660Asp)
c.10977A>T (p.Glu3659Asp)
c.4382A>T
c.1802A>T
c.276A>T (p.Glu92Asp)
c.10992A>T (p.Glu3664Asp)
19g.38528657G>ACA055520RYR1c.10935G>A (n.10935G>A)
c.10996G>A (p.Asp3666Asn)
c.10981G>A (p.Asp3661Asn)
c.10978G>A (p.Asp3660Asn)
c.4383G>A
c.1803G>A
c.277G>A (p.Asp93Asn)
c.10993G>A (p.Asp3665Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38528657G>CCA080134RYR1c.10935G>C (n.10935G>C)
c.10996G>C (p.Asp3666His)
c.10981G>C (p.Asp3661His)
c.10978G>C (p.Asp3660His)
c.4383G>C
c.1803G>C
c.277G>C (p.Asp93His)
c.10993G>C (p.Asp3665His)
19g.38528657G=CA2335067477RYR1c.10935G= (n.10935G=)
c.10996G= (p.Asp3666=)
c.10981G= (p.Asp3661=)
c.10978G= (p.Asp3660=)
c.4383G=
c.1803G=
c.277G= (p.Asp93=)
c.10993G= (p.Asp3665=)
19g.38528657G>TCA405649798RYR1c.10935G>T (n.10935G>T)
c.10996G>T (p.Asp3666Tyr)
c.10981G>T (p.Asp3661Tyr)
c.10978G>T (p.Asp3660Tyr)
c.4383G>T
c.1803G>T
c.277G>T (p.Asp93Tyr)
c.10993G>T (p.Asp3665Tyr)
19g.38528658A>CCA405649799RYR1c.10936A>C (n.10936A>C)
c.10997A>C (p.Asp3666Ala)
c.10982A>C (p.Asp3661Ala)
c.10979A>C (p.Asp3660Ala)
c.4384A>C
c.1804A>C
c.278A>C (p.Asp93Ala)
c.10994A>C (p.Asp3665Ala)
19g.38528658A>GCA405649800RYR1c.10936A>G (n.10936A>G)
c.10997A>G (p.Asp3666Gly)
c.10982A>G (p.Asp3661Gly)
c.10979A>G (p.Asp3660Gly)
c.4384A>G
c.1804A>G
c.278A>G (p.Asp93Gly)
c.10994A>G (p.Asp3665Gly)
19g.38528658A>TCA405649801RYR1c.10936A>T (n.10936A>T)
c.10997A>T (p.Asp3666Val)
c.10982A>T (p.Asp3661Val)
c.10979A>T (p.Asp3660Val)
c.4384A>T
c.1804A>T
c.278A>T (p.Asp93Val)
c.10994A>T (p.Asp3665Val)
19g.38528659C>ACA405649802RYR1c.10937C>A (n.10937C>A)
c.10998C>A (p.Asp3666Glu)
c.10983C>A (p.Asp3661Glu)
c.10980C>A (p.Asp3660Glu)
c.4385C>A
c.1805C>A
c.279C>A (p.Asp93Glu)
c.10995C>A (p.Asp3665Glu)
19g.38528659C=CA2335067478RYR1c.10937C= (n.10937C=)
c.10998C= (p.Asp3666=)
c.10983C= (p.Asp3661=)
c.10980C= (p.Asp3660=)
c.4385C=
c.1805C=
c.279C= (p.Asp93=)
c.10995C= (p.Asp3665=)
19g.38528659C>GCA405649803RYR1c.10937C>G (n.10937C>G)
c.10998C>G (p.Asp3666Glu)
c.10983C>G (p.Asp3661Glu)
c.10980C>G (p.Asp3660Glu)
c.4385C>G
c.1805C>G
c.279C>G (p.Asp93Glu)
c.10995C>G (p.Asp3665Glu)
19g.38528659C>TCA308082054RYR1c.10937C>T (n.10937C>T)
c.10998C>T (p.Asp3666=)
c.10983C>T (p.Asp3661=)
c.10980C>T (p.Asp3660=)
c.4385C>T
c.1805C>T
c.279C>T (p.Asp93=)
c.10995C>T (p.Asp3665=)
 dbSNP gnomAD v3 gnomAD v4
19g.38528660C>ACA405649804RYR1c.10938C>A (n.10938C>A)
c.10999C>A (p.His3667Asn)
c.10984C>A (p.His3662Asn)
c.10981C>A (p.His3661Asn)
c.4386C>A
c.1806C>A
c.280C>A (p.His94Asn)
c.10996C>A (p.His3666Asn)
19g.38528660C=CA2335067479RYR1c.10938C= (n.10938C=)
c.10999C= (p.His3667=)
c.10984C= (p.His3662=)
c.10981C= (p.His3661=)
c.4386C=
c.1806C=
c.280C= (p.His94=)
c.10996C= (p.His3666=)
19g.38528660C>GCA405649805RYR1c.10938C>G (n.10938C>G)
c.10999C>G (p.His3667Asp)
c.10984C>G (p.His3662Asp)
c.10981C>G (p.His3661Asp)
c.4386C>G
c.1806C>G
c.280C>G (p.His94Asp)
c.10996C>G (p.His3666Asp)
19g.38528660C>TCA055531RYR1c.10938C>T (n.10938C>T)
c.10999C>T (p.His3667Tyr)
c.10984C>T (p.His3662Tyr)
c.10981C>T (p.His3661Tyr)
c.4386C>T
c.1806C>T
c.280C>T (p.His94Tyr)
c.10996C>T (p.His3666Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.38528662_38528663delCA2584906311RYR1c.10940_10941del (n.10940_10941del)
c.11001_11002del (p.His3667GlnfsTer3)
c.10986_10987del (p.His3662GlnfsTer3)
c.10983_10984del (p.His3661GlnfsTer3)
c.4388_4389del
c.1808_1809del
c.282_283del (p.His94GlnfsTer3)
c.10998_10999del (p.His3666GlnfsTer3)
 gnomAD v4
19g.38528661A=CA2335067480RYR1c.10939A= (n.10939A=)
c.11000A= (p.His3667=)
c.10985A= (p.His3662=)
c.10982A= (p.His3661=)
c.4387A=
c.1807A=
c.281A= (p.His94=)
c.10997A= (p.His3666=)
19g.38528661A>CCA405649806RYR1c.10939A>C (n.10939A>C)
c.11000A>C (p.His3667Pro)
c.10985A>C (p.His3662Pro)
c.10982A>C (p.His3661Pro)
c.4387A>C
c.1807A>C
c.281A>C (p.His94Pro)
c.10997A>C (p.His3666Pro)
 dbSNP gnomAD v3 gnomAD v4
19g.38528661A>GCA405649807RYR1c.10939A>G (n.10939A>G)
c.11000A>G (p.His3667Arg)
c.10985A>G (p.His3662Arg)
c.10982A>G (p.His3661Arg)
c.4387A>G
c.1807A>G
c.281A>G (p.His94Arg)
c.10997A>G (p.His3666Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.38528661A>TCA405649808RYR1c.10939A>T (n.10939A>T)
c.11000A>T (p.His3667Leu)
c.10985A>T (p.His3662Leu)
c.10982A>T (p.His3661Leu)
c.4387A>T
c.1807A>T
c.281A>T (p.His94Leu)
c.10997A>T (p.His3666Leu)
19g.38528662C>ACA405649809RYR1c.10940C>A (n.10940C>A)
c.11001C>A (p.His3667Gln)
c.10986C>A (p.His3662Gln)
c.10983C>A (p.His3661Gln)
c.4388C>A
c.1808C>A
c.282C>A (p.His94Gln)
c.10998C>A (p.His3666Gln)
19g.38528662C>GCA405649810RYR1c.10940C>G (n.10940C>G)
c.11001C>G (p.His3667Gln)
c.10986C>G (p.His3662Gln)
c.10983C>G (p.His3661Gln)
c.4388C>G
c.1808C>G
c.282C>G (p.His94Gln)
c.10998C>G (p.His3666Gln)
19g.38528662C>TCA507354559RYR1c.10940C>T (n.10940C>T)
c.11001C>T (p.His3667=)
c.10986C>T (p.His3662=)
c.10983C>T (p.His3661=)
c.4388C>T
c.1808C>T
c.282C>T (p.His94=)
c.10998C>T (p.His3666=)
19g.38528663A=CA2335067481RYR1c.10941A= (n.10941A=)
c.11002A= (p.Ser3668=)
c.10987A= (p.Ser3663=)
c.10984A= (p.Ser3662=)
c.4389A=
c.1809A=
c.283A= (p.Ser95=)
c.10999A= (p.Ser3667=)
19g.38528663A>CCA405649811RYR1c.10941A>C (n.10941A>C)
c.11002A>C (p.Ser3668Arg)
c.10987A>C (p.Ser3663Arg)
c.10984A>C (p.Ser3662Arg)
c.4389A>C
c.1809A>C
c.283A>C (p.Ser95Arg)
c.10999A>C (p.Ser3667Arg)
19g.38528663A>GCA055537RYR1c.10941A>G (n.10941A>G)
c.11002A>G (p.Ser3668Gly)
c.10987A>G (p.Ser3663Gly)
c.10984A>G (p.Ser3662Gly)
c.4389A>G
c.1809A>G
c.283A>G (p.Ser95Gly)
c.10999A>G (p.Ser3667Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38528663A>TCA405649812RYR1c.10941A>T (n.10941A>T)
c.11002A>T (p.Ser3668Cys)
c.10987A>T (p.Ser3663Cys)
c.10984A>T (p.Ser3662Cys)
c.4389A>T
c.1809A>T
c.283A>T (p.Ser95Cys)
c.10999A>T (p.Ser3667Cys)
 gnomAD v4
19g.38528664G>ACA405649815RYR1c.10942G>A (n.10942G>A)
c.11003G>A (p.Ser3668Asn)
c.10988G>A (p.Ser3663Asn)
c.10985G>A (p.Ser3662Asn)
c.4390G>A
c.1810G>A
c.284G>A (p.Ser95Asn)
c.11000G>A (p.Ser3667Asn)
19g.38528664G>CCA405649814RYR1c.10942G>C (n.10942G>C)
c.11003G>C (p.Ser3668Thr)
c.10988G>C (p.Ser3663Thr)
c.10985G>C (p.Ser3662Thr)
c.4390G>C
c.1810G>C
c.284G>C (p.Ser95Thr)
c.11000G>C (p.Ser3667Thr)
19g.38528664G>TCA405649813RYR1c.10942G>T (n.10942G>T)
c.11003G>T (p.Ser3668Ile)
c.10988G>T (p.Ser3663Ile)
c.10985G>T (p.Ser3662Ile)
c.4390G>T
c.1810G>T
c.284G>T (p.Ser95Ile)
c.11000G>T (p.Ser3667Ile)
19g.38528665T>ACA405649816RYR1c.10943T>A (n.10943T>A)
c.11004T>A (p.Ser3668Arg)
c.10989T>A (p.Ser3663Arg)
c.10986T>A (p.Ser3662Arg)
c.4391T>A
c.1811T>A
c.285T>A (p.Ser95Arg)
c.11001T>A (p.Ser3667Arg)
19g.38528665T>CCA507354560RYR1c.10943T>C (n.10943T>C)
c.11004T>C (p.Ser3668=)
c.10989T>C (p.Ser3663=)
c.10986T>C (p.Ser3662=)
c.4391T>C
c.1811T>C
c.285T>C (p.Ser95=)
c.11001T>C (p.Ser3667=)
19g.38528665T>GCA405649817RYR1c.10943T>G (n.10943T>G)
c.11004T>G (p.Ser3668Arg)
c.10989T>G (p.Ser3663Arg)
c.10986T>G (p.Ser3662Arg)
c.4391T>G
c.1811T>G
c.285T>G (p.Ser95Arg)
c.11001T>G (p.Ser3667Arg)
19g.38528666T>ACA405649818RYR1c.10944T>A (n.10944T>A)
c.11005T>A (p.Phe3669Ile)
c.10990T>A (p.Phe3664Ile)
c.10987T>A (p.Phe3663Ile)
c.4392T>A
c.1812T>A
c.286T>A (p.Phe96Ile)
c.11002T>A (p.Phe3668Ile)
19g.38528666T>CCA405649819RYR1c.10944T>C (n.10944T>C)
c.11005T>C (p.Phe3669Leu)
c.10990T>C (p.Phe3664Leu)
c.10987T>C (p.Phe3663Leu)
c.4392T>C
c.1812T>C
c.286T>C (p.Phe96Leu)
c.11002T>C (p.Phe3668Leu)
19g.38528666T>GCA405649820RYR1c.10944T>G (n.10944T>G)
c.11005T>G (p.Phe3669Val)
c.10990T>G (p.Phe3664Val)
c.10987T>G (p.Phe3663Val)
c.4392T>G
c.1812T>G
c.286T>G (p.Phe96Val)
c.11002T>G (p.Phe3668Val)
19g.38528667T>ACA405649821RYR1c.10945T>A (n.10945T>A)
c.11006T>A (p.Phe3669Tyr)
c.10991T>A (p.Phe3664Tyr)
c.10988T>A (p.Phe3663Tyr)
c.4393T>A
c.1813T>A
c.287T>A (p.Phe96Tyr)
c.11003T>A (p.Phe3668Tyr)
19g.38528667T>CCA405649822RYR1c.10945T>C (n.10945T>C)
c.11006T>C (p.Phe3669Ser)
c.10991T>C (p.Phe3664Ser)
c.10988T>C (p.Phe3663Ser)
c.4393T>C
c.1813T>C
c.287T>C (p.Phe96Ser)
c.11003T>C (p.Phe3668Ser)
19g.38528667T>GCA405649823RYR1c.10945T>G (n.10945T>G)
c.11006T>G (p.Phe3669Cys)
c.10991T>G (p.Phe3664Cys)
c.10988T>G (p.Phe3663Cys)
c.4393T>G
c.1813T>G
c.287T>G (p.Phe96Cys)
c.11003T>G (p.Phe3668Cys)
 gnomAD v4
19g.38528668T>ACA405649824RYR1c.10946T>A (n.10946T>A)
c.11007T>A (p.Phe3669Leu)
c.10992T>A (p.Phe3664Leu)
c.10989T>A (p.Phe3663Leu)
c.4394T>A
c.1814T>A
c.288T>A (p.Phe96Leu)
c.11004T>A (p.Phe3668Leu)
19g.38528668T>CCA507354562RYR1c.10946T>C (n.10946T>C)
c.11007T>C (p.Phe3669=)
c.10992T>C (p.Phe3664=)
c.10989T>C (p.Phe3663=)
c.4394T>C
c.1814T>C
c.288T>C (p.Phe96=)
c.11004T>C (p.Phe3668=)
19g.38528668T>GCA405649825RYR1c.10946T>G (n.10946T>G)
c.11007T>G (p.Phe3669Leu)
c.10992T>G (p.Phe3664Leu)
c.10989T>G (p.Phe3663Leu)
c.4394T>G
c.1814T>G
c.288T>G (p.Phe96Leu)
c.11004T>G (p.Phe3668Leu)
19g.38528669G>ACA405649826RYR1c.10947G>A (n.10947G>A)
c.11008G>A (p.Glu3670Lys)
c.10993G>A (p.Glu3665Lys)
c.10990G>A (p.Glu3664Lys)
c.4395G>A
c.1815G>A
c.289G>A (p.Glu97Lys)
c.11005G>A (p.Glu3669Lys)
19g.38528669G>CCA405649827RYR1c.10947G>C (n.10947G>C)
c.11008G>C (p.Glu3670Gln)
c.10993G>C (p.Glu3665Gln)
c.10990G>C (p.Glu3664Gln)
c.4395G>C
c.1815G>C
c.289G>C (p.Glu97Gln)
c.11005G>C (p.Glu3669Gln)
19g.38528669G>TCA405649828RYR1c.10947G>T (n.10947G>T)
c.11008G>T (p.Glu3670Ter)
c.10993G>T (p.Glu3665Ter)
c.10990G>T (p.Glu3664Ter)
c.4395G>T
c.1815G>T
c.289G>T (p.Glu97Ter)
c.11005G>T (p.Glu3669Ter)
19g.38528670A>CCA405649829RYR1c.10948A>C (n.10948A>C)
c.11009A>C (p.Glu3670Ala)
c.10994A>C (p.Glu3665Ala)
c.10991A>C (p.Glu3664Ala)
c.4396A>C
c.1816A>C
c.290A>C (p.Glu97Ala)
c.11006A>C (p.Glu3669Ala)
19g.38528670A>GCA405649830RYR1c.10948A>G (n.10948A>G)
c.11009A>G (p.Glu3670Gly)
c.10994A>G (p.Glu3665Gly)
c.10991A>G (p.Glu3664Gly)
c.4396A>G
c.1816A>G
c.290A>G (p.Glu97Gly)
c.11006A>G (p.Glu3669Gly)
19g.38528670A>TCA405649831RYR1c.10948A>T (n.10948A>T)
c.11009A>T (p.Glu3670Val)
c.10994A>T (p.Glu3665Val)
c.10991A>T (p.Glu3664Val)
c.4396A>T
c.1816A>T
c.290A>T (p.Glu97Val)
c.11006A>T (p.Glu3669Val)
19g.38528671G>ACA507354563RYR1c.10949G>A (n.10949G>A)
c.11010G>A (p.Glu3670=)
c.10995G>A (p.Glu3665=)
c.10992G>A (p.Glu3664=)
c.4397G>A
c.1817G>A
c.291G>A (p.Glu97=)
c.11007G>A (p.Glu3669=)
 gnomAD v4
19g.38528671G>CCA405649833RYR1c.10949G>C (n.10949G>C)
c.11010G>C (p.Glu3670Asp)
c.10995G>C (p.Glu3665Asp)
c.10992G>C (p.Glu3664Asp)
c.4397G>C
c.1817G>C
c.291G>C (p.Glu97Asp)
c.11007G>C (p.Glu3669Asp)
19g.38528671G>TCA405649832RYR1c.10949G>T (n.10949G>T)
c.11010G>T (p.Glu3670Asp)
c.10995G>T (p.Glu3665Asp)
c.10992G>T (p.Glu3664Asp)
c.4397G>T
c.1817G>T
c.291G>T (p.Glu97Asp)
c.11007G>T (p.Glu3669Asp)
19g.38528672G>ACA405649834RYR1c.10950G>A (n.10950G>A)
c.11011G>A (p.Asp3671Asn)
c.10996G>A (p.Asp3666Asn)
c.10993G>A (p.Asp3665Asn)
c.4398G>A
c.1818G>A
c.292G>A (p.Asp98Asn)
c.11008G>A (p.Asp3670Asn)
 gnomAD v4
19g.38528672G>CCA405649835RYR1c.10950G>C (n.10950G>C)
c.11011G>C (p.Asp3671His)
c.10996G>C (p.Asp3666His)
c.10993G>C (p.Asp3665His)
c.4398G>C
c.1818G>C
c.292G>C (p.Asp98His)
c.11008G>C (p.Asp3670His)
19g.38528672G>TCA405649836RYR1c.10950G>T (n.10950G>T)
c.11011G>T (p.Asp3671Tyr)
c.10996G>T (p.Asp3666Tyr)
c.10993G>T (p.Asp3665Tyr)
c.4398G>T
c.1818G>T
c.292G>T (p.Asp98Tyr)
c.11008G>T (p.Asp3670Tyr)
19g.38528673A>CCA405649837RYR1c.10951A>C (n.10951A>C)
c.11012A>C (p.Asp3671Ala)
c.10997A>C (p.Asp3666Ala)
c.10994A>C (p.Asp3665Ala)
c.4399A>C
c.1819A>C
c.293A>C (p.Asp98Ala)
c.11009A>C (p.Asp3670Ala)
19g.38528673A>GCA405649838RYR1c.10951A>G (n.10951A>G)
c.11012A>G (p.Asp3671Gly)
c.10997A>G (p.Asp3666Gly)
c.10994A>G (p.Asp3665Gly)
c.4399A>G
c.1819A>G
c.293A>G (p.Asp98Gly)
c.11009A>G (p.Asp3670Gly)
19g.38528673A>TCA405649839RYR1c.10951A>T (n.10951A>T)
c.11012A>T (p.Asp3671Val)
c.10997A>T (p.Asp3666Val)
c.10994A>T (p.Asp3665Val)
c.4399A>T
c.1819A>T
c.293A>T (p.Asp98Val)
c.11009A>T (p.Asp3670Val)
19g.38528674C>ACA405649841RYR1c.10952C>A (n.10952C>A)
c.11013C>A (p.Asp3671Glu)
c.10998C>A (p.Asp3666Glu)
c.10995C>A (p.Asp3665Glu)
c.4400C>A
c.1820C>A
c.294C>A (p.Asp98Glu)
c.11010C>A (p.Asp3670Glu)
19g.38528674C>GCA405649840RYR1c.10952C>G (n.10952C>G)
c.11013C>G (p.Asp3671Glu)
c.10998C>G (p.Asp3666Glu)
c.10995C>G (p.Asp3665Glu)
c.4400C>G
c.1820C>G
c.294C>G (p.Asp98Glu)
c.11010C>G (p.Asp3670Glu)
19g.38528674C>TCA507354566RYR1c.10952C>T (n.10952C>T)
c.11013C>T (p.Asp3671=)
c.10998C>T (p.Asp3666=)
c.10995C>T (p.Asp3665=)
c.4400C>T
c.1820C>T
c.294C>T (p.Asp98=)
c.11010C>T (p.Asp3670=)
 gnomAD v4
19g.38528675C>ACA080136RYR1c.10953C>A (n.10953C>A)
c.11014C>A (p.Arg3672Ser)
c.10999C>A (p.Arg3667Ser)
c.10996C>A (p.Arg3666Ser)
c.4401C>A
c.1821C>A
c.295C>A (p.Arg99Ser)
c.11011C>A (p.Arg3671Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38528675C=CA2335067482RYR1c.10953C= (n.10953C=)
c.11014C= (p.Arg3672=)
c.10999C= (p.Arg3667=)
c.10996C= (p.Arg3666=)
c.4401C=
c.1821C=
c.295C= (p.Arg99=)
c.11011C= (p.Arg3671=)
19g.38528675C>GCA405649842RYR1c.10953C>G (n.10953C>G)
c.11014C>G (p.Arg3672Gly)
c.10999C>G (p.Arg3667Gly)
c.10996C>G (p.Arg3666Gly)
c.4401C>G
c.1821C>G
c.295C>G (p.Arg99Gly)
c.11011C>G (p.Arg3671Gly)
 dbSNP
19g.38528675C>TCA405649843RYR1c.10953C>T (n.10953C>T)
c.11014C>T (p.Arg3672Cys)
c.10999C>T (p.Arg3667Cys)
c.10996C>T (p.Arg3666Cys)
c.4401C>T
c.1821C>T
c.295C>T (p.Arg99Cys)
c.11011C>T (p.Arg3671Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.38528676delCA2576771766RYR1c.10954del (n.10954del)
c.11015del (p.Arg3672ProfsTer2)
c.11000del (p.Arg3667ProfsTer2)
c.10997del (p.Arg3666ProfsTer2)
c.4402del
c.1822del
c.296del (p.Arg99ProfsTer2)
c.11012del (p.Arg3671ProfsTer2)
19g.38528676G>ACA055559RYR1c.10954G>A (n.10954G>A)
c.11015G>A (p.Arg3672His)
c.11000G>A (p.Arg3667His)
c.10997G>A (p.Arg3666His)
c.4402G>A
c.1822G>A
c.296G>A (p.Arg99His)
c.11012G>A (p.Arg3671His)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.38528676G>CCA405649844RYR1c.10954G>C (n.10954G>C)
c.11015G>C (p.Arg3672Pro)
c.11000G>C (p.Arg3667Pro)
c.10997G>C (p.Arg3666Pro)
c.4402G>C
c.1822G>C
c.296G>C (p.Arg99Pro)
c.11012G>C (p.Arg3671Pro)
19g.38528676G=CA2335067483RYR1c.10954G= (n.10954G=)
c.11015G= (p.Arg3672=)
c.11000G= (p.Arg3667=)
c.10997G= (p.Arg3666=)
c.4402G=
c.1822G=
c.296G= (p.Arg99=)
c.11012G= (p.Arg3671=)
19g.38528676G>TCA405649845RYR1c.10954G>T (n.10954G>T)
c.11015G>T (p.Arg3672Leu)
c.11000G>T (p.Arg3667Leu)
c.10997G>T (p.Arg3666Leu)
c.4402G>T
c.1822G>T
c.296G>T (p.Arg99Leu)
c.11012G>T (p.Arg3671Leu)
19g.38528677C>ACA507354569RYR1c.10955C>A (n.10955C>A)
c.11016C>A (p.Arg3672=)
c.11001C>A (p.Arg3667=)
c.10998C>A (p.Arg3666=)
c.4403C>A
c.1823C>A
c.297C>A (p.Arg99=)
c.11013C>A (p.Arg3671=)
19g.38528677C>GCA507354567RYR1c.10955C>G (n.10955C>G)
c.11016C>G (p.Arg3672=)
c.11001C>G (p.Arg3667=)
c.10998C>G (p.Arg3666=)
c.4403C>G
c.1823C>G
c.297C>G (p.Arg99=)
c.11013C>G (p.Arg3671=)
19g.38528677C>TCA507354568RYR1c.10955C>T (n.10955C>T)
c.11016C>T (p.Arg3672=)
c.11001C>T (p.Arg3667=)
c.10998C>T (p.Arg3666=)
c.4403C>T
c.1823C>T
c.297C>T (p.Arg99=)
c.11013C>T (p.Arg3671=)
 ClinVar
19g.38528678A>CCA405649846RYR1c.10956A>C (n.10956A>C)
c.11017A>C (p.Met3673Leu)
c.11002A>C (p.Met3668Leu)
c.10999A>C (p.Met3667Leu)
c.4404A>C
c.1824A>C
c.298A>C (p.Met100Leu)
c.11014A>C (p.Met3672Leu)
19g.38528678A>GCA405649848RYR1c.10956A>G (n.10956A>G)
c.11017A>G (p.Met3673Val)
c.11002A>G (p.Met3668Val)
c.10999A>G (p.Met3667Val)
c.4404A>G
c.1824A>G
c.298A>G (p.Met100Val)
c.11014A>G (p.Met3672Val)
 gnomAD v3 gnomAD v4
19g.38528678A>TCA405649847RYR1c.10956A>T (n.10956A>T)
c.11017A>T (p.Met3673Leu)
c.11002A>T (p.Met3668Leu)
c.10999A>T (p.Met3667Leu)
c.4404A>T
c.1824A>T
c.298A>T (p.Met100Leu)
c.11014A>T (p.Met3672Leu)
19g.38528679T>ACA405649849RYR1c.10957T>A (n.10957T>A)
c.11018T>A (p.Met3673Lys)
c.11003T>A (p.Met3668Lys)
c.11000T>A (p.Met3667Lys)
c.4405T>A
c.1825T>A
c.299T>A (p.Met100Lys)
c.11015T>A (p.Met3672Lys)
19g.38528679T>CCA405649850RYR1c.10957T>C (n.10957T>C)
c.11018T>C (p.Met3673Thr)
c.11003T>C (p.Met3668Thr)
c.11000T>C (p.Met3667Thr)
c.4405T>C
c.1825T>C
c.299T>C (p.Met100Thr)
c.11015T>C (p.Met3672Thr)
 gnomAD v4
19g.38528679T>GCA405649851RYR1c.10957T>G (n.10957T>G)
c.11018T>G (p.Met3673Arg)
c.11003T>G (p.Met3668Arg)
c.11000T>G (p.Met3667Arg)
c.4405T>G
c.1825T>G
c.299T>G (p.Met100Arg)
c.11015T>G (p.Met3672Arg)
19g.38528680G>ACA405649852RYR1c.10958G>A (n.10958G>A)
c.11019G>A (p.Met3673Ile)
c.11004G>A (p.Met3668Ile)
c.11001G>A (p.Met3667Ile)
c.4406G>A
c.1826G>A
c.300G>A (p.Met100Ile)
c.11016G>A (p.Met3672Ile)
19g.38528680G>CCA405649853RYR1c.10958G>C (n.10958G>C)
c.11019G>C (p.Met3673Ile)
c.11004G>C (p.Met3668Ile)
c.11001G>C (p.Met3667Ile)
c.4406G>C
c.1826G>C
c.300G>C (p.Met100Ile)
c.11016G>C (p.Met3672Ile)
19g.38528680G>TCA405649854RYR1c.10958G>T (n.10958G>T)
c.11019G>T (p.Met3673Ile)
c.11004G>T (p.Met3668Ile)
c.11001G>T (p.Met3667Ile)
c.4406G>T
c.1826G>T
c.300G>T (p.Met100Ile)
c.11016G>T (p.Met3672Ile)
19g.38528683_38528686delCA2584906320RYR1c.10961_10964del (n.10961_10964del)
c.11022_11025del (p.Ile3674MetfsTer?)
c.11007_11010del (p.Ile3669MetfsTer?)
c.11004_11007del (p.Ile3668MetfsTer?)
c.4409_4412del
c.1829_1832del
c.303_306del (p.Ile101MetfsTer?)
c.11019_11022del (p.Ile3673MetfsTer?)
 gnomAD v4
19g.38528681A=CA2335067484RYR1c.10959A= (n.10959A=)
c.11020A= (p.Ile3674=)
c.11005A= (p.Ile3669=)
c.11002A= (p.Ile3668=)
c.4407A=
c.1827A=
c.301A= (p.Ile101=)
c.11017A= (p.Ile3673=)
19g.38528681A>CCA405649855RYR1c.10959A>C (n.10959A>C)
c.11020A>C (p.Ile3674Leu)
c.11005A>C (p.Ile3669Leu)
c.11002A>C (p.Ile3668Leu)
c.4407A>C
c.1827A>C
c.301A>C (p.Ile101Leu)
c.11017A>C (p.Ile3673Leu)
19g.38528681A>GCA080138RYR1c.10959A>G (n.10959A>G)
c.11020A>G (p.Ile3674Val)
c.11005A>G (p.Ile3669Val)
c.11002A>G (p.Ile3668Val)
c.4407A>G
c.1827A>G
c.301A>G (p.Ile101Val)
c.11017A>G (p.Ile3673Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38528681A>TCA405649856RYR1c.10959A>T (n.10959A>T)
c.11020A>T (p.Ile3674Leu)
c.11005A>T (p.Ile3669Leu)
c.11002A>T (p.Ile3668Leu)
c.4407A>T
c.1827A>T
c.301A>T (p.Ile101Leu)
c.11017A>T (p.Ile3673Leu)
19g.38528682T>ACA405649857RYR1c.10960T>A (n.10960T>A)
c.11021T>A (p.Ile3674Lys)
c.11006T>A (p.Ile3669Lys)
c.11003T>A (p.Ile3668Lys)
c.4408T>A
c.1828T>A
c.302T>A (p.Ile101Lys)
c.11018T>A (p.Ile3673Lys)
19g.38528682T>CCA055572RYR1c.10960T>C (n.10960T>C)
c.11021T>C (p.Ile3674Thr)
c.11006T>C (p.Ile3669Thr)
c.11003T>C (p.Ile3668Thr)
c.4408T>C
c.1828T>C
c.302T>C (p.Ile101Thr)
c.11018T>C (p.Ile3673Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38528682T>GCA405649858RYR1c.10960T>G (n.10960T>G)
c.11021T>G (p.Ile3674Arg)
c.11006T>G (p.Ile3669Arg)
c.11003T>G (p.Ile3668Arg)
c.4408T>G
c.1828T>G
c.302T>G (p.Ile101Arg)
c.11018T>G (p.Ile3673Arg)
19g.38528682T=CA2335067485RYR1c.10960T= (n.10960T=)
c.11021T= (p.Ile3674=)
c.11006T= (p.Ile3669=)
c.11003T= (p.Ile3668=)
c.4408T=
c.1828T=
c.302T= (p.Ile101=)
c.11018T= (p.Ile3673=)
19g.38528682_38528685delinsTAGACA2335067486RYR1c.10960_10963delinsTAGA (n.10960_10963delinsTAGA)
c.11021_11024delinsTAGA (p.Ile3674=)
c.11006_11009delinsTAGA (p.Ile3669=)
c.11003_11006delinsTAGA (p.Ile3668=)
c.4408_4411delinsTAGA
c.1828_1831delinsTAGA
c.302_305delinsTAGA (p.Ile101=)
c.11018_11021delinsTAGA (p.Ile3673=)
19g.38528683A>CCA507354572RYR1c.10961A>C (n.10961A>C)
c.11022A>C (p.Ile3674=)
c.11007A>C (p.Ile3669=)
c.11004A>C (p.Ile3668=)
c.4409A>C
c.1829A>C
c.303A>C (p.Ile101=)
c.11019A>C (p.Ile3673=)
19g.38528683A>GCA405649859RYR1c.10961A>G (n.10961A>G)
c.11022A>G (p.Ile3674Met)
c.11007A>G (p.Ile3669Met)
c.11004A>G (p.Ile3668Met)
c.4409A>G
c.1829A>G
c.303A>G (p.Ile101Met)
c.11019A>G (p.Ile3673Met)
19g.38528683A>TCA507354574RYR1c.10961A>T (n.10961A>T)
c.11022A>T (p.Ile3674=)
c.11007A>T (p.Ile3669=)
c.11004A>T (p.Ile3668=)
c.4409A>T
c.1829A>T
c.303A>T (p.Ile101=)
c.11019A>T (p.Ile3673=)
19g.38528683_38528685delCA633066711RYR1c.10961_10963del (n.10961_10963del)
c.11022_11024del (p.Asp3675del)
c.11007_11009del (p.Asp3670del)
c.11004_11006del (p.Asp3669del)
c.4409_4411del
c.1829_1831del
c.303_305del (p.Asp102del)
c.11019_11021del (p.Asp3674del)
 dbSNP gnomAD v2 gnomAD v4
19g.38528684G>ACA055577RYR1c.10962G>A (n.10962G>A)
c.11023G>A (p.Asp3675Asn)
c.11008G>A (p.Asp3670Asn)
c.11005G>A (p.Asp3669Asn)
c.4410G>A
c.1830G>A
c.304G>A (p.Asp102Asn)
c.11020G>A (p.Asp3674Asn)
 dbSNP ExAC gnomAD v2
19g.38528684G>CCA055581RYR1c.10962G>C (n.10962G>C)
c.11023G>C (p.Asp3675His)
c.11008G>C (p.Asp3670His)
c.11005G>C (p.Asp3669His)
c.4410G>C
c.1830G>C
c.304G>C (p.Asp102His)
c.11020G>C (p.Asp3674His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38528684G=CA2335067487RYR1c.10962G= (n.10962G=)
c.11023G= (p.Asp3675=)
c.11008G= (p.Asp3670=)
c.11005G= (p.Asp3669=)
c.4410G=
c.1830G=
c.304G= (p.Asp102=)
c.11020G= (p.Asp3674=)
19g.38528684G>TCA405649860RYR1c.10962G>T (n.10962G>T)
c.11023G>T (p.Asp3675Tyr)
c.11008G>T (p.Asp3670Tyr)
c.11005G>T (p.Asp3669Tyr)
c.4410G>T
c.1830G>T
c.304G>T (p.Asp102Tyr)
c.11020G>T (p.Asp3674Tyr)
19g.38528685A>CCA405649861RYR1c.10963A>C (n.10963A>C)
c.11024A>C (p.Asp3675Ala)
c.11009A>C (p.Asp3670Ala)
c.11006A>C (p.Asp3669Ala)
c.4411A>C
c.1831A>C
c.305A>C (p.Asp102Ala)
c.11021A>C (p.Asp3674Ala)
19g.38528685A>GCA405649862RYR1c.10963A>G (n.10963A>G)
c.11024A>G (p.Asp3675Gly)
c.11009A>G (p.Asp3670Gly)
c.11006A>G (p.Asp3669Gly)
c.4411A>G
c.1831A>G
c.305A>G (p.Asp102Gly)
c.11021A>G (p.Asp3674Gly)
 ClinVar gnomAD v4
19g.38528685A>TCA405649863RYR1c.10963A>T (n.10963A>T)
c.11024A>T (p.Asp3675Val)
c.11009A>T (p.Asp3670Val)
c.11006A>T (p.Asp3669Val)
c.4411A>T
c.1831A>T
c.305A>T (p.Asp102Val)
c.11021A>T (p.Asp3674Val)
19g.38528686T>ACA405649864RYR1c.10964T>A (n.10964T>A)
c.11025T>A (p.Asp3675Glu)
c.11010T>A (p.Asp3670Glu)
c.11007T>A (p.Asp3669Glu)
c.4412T>A
c.1832T>A
c.306T>A (p.Asp102Glu)
c.11022T>A (p.Asp3674Glu)
19g.38528686T>CCA507354576RYR1c.10964T>C (n.10964T>C)
c.11025T>C (p.Asp3675=)
c.11010T>C (p.Asp3670=)
c.11007T>C (p.Asp3669=)
c.4412T>C
c.1832T>C
c.306T>C (p.Asp102=)
c.11022T>C (p.Asp3674=)
 dbSNP gnomAD v2 gnomAD v4
19g.38528686T>GCA405649865RYR1c.10964T>G (n.10964T>G)
c.11025T>G (p.Asp3675Glu)
c.11010T>G (p.Asp3670Glu)
c.11007T>G (p.Asp3669Glu)
c.4412T>G
c.1832T>G
c.306T>G (p.Asp102Glu)
c.11022T>G (p.Asp3674Glu)
19g.38528686T=CA2335067488RYR1c.10964T= (n.10964T=)
c.11025T= (p.Asp3675=)
c.11010T= (p.Asp3670=)
c.11007T= (p.Asp3669=)
c.4412T=
c.1832T=
c.306T= (p.Asp102=)
c.11022T= (p.Asp3674=)
19g.38528687G>ACA405649866RYR1c.10965G>A (n.10965G>A)
c.11026G>A (p.Asp3676Asn)
c.11011G>A (p.Asp3671Asn)
c.11008G>A (p.Asp3670Asn)
c.4413G>A
c.1833G>A
c.307G>A (p.Asp103Asn)
c.11023G>A (p.Asp3675Asn)
19g.38528687G>CCA405649867RYR1c.10965G>C (n.10965G>C)
c.11026G>C (p.Asp3676His)
c.11011G>C (p.Asp3671His)
c.11008G>C (p.Asp3670His)
c.4413G>C
c.1833G>C
c.307G>C (p.Asp103His)
c.11023G>C (p.Asp3675His)
19g.38528687G=CA2335067489RYR1c.10965G= (n.10965G=)
c.11026G= (p.Asp3676=)
c.11011G= (p.Asp3671=)
c.11008G= (p.Asp3670=)
c.4413G=
c.1833G=
c.307G= (p.Asp103=)
c.11023G= (p.Asp3675=)
19g.38528687G>TCA308082066RYR1c.10965G>T (n.10965G>T)
c.11026G>T (p.Asp3676Tyr)
c.11011G>T (p.Asp3671Tyr)
c.11008G>T (p.Asp3670Tyr)
c.4413G>T
c.1833G>T
c.307G>T (p.Asp103Tyr)
c.11023G>T (p.Asp3675Tyr)
 dbSNP gnomAD v2 gnomAD v4
19g.38528688A>CCA405649868RYR1c.10966A>C (n.10966A>C)
c.11027A>C (p.Asp3676Ala)
c.11012A>C (p.Asp3671Ala)
c.11009A>C (p.Asp3670Ala)
c.4414A>C
c.1834A>C
c.308A>C (p.Asp103Ala)
c.11024A>C (p.Asp3675Ala)
19g.38528688A>GCA405649869RYR1c.10966A>G (n.10966A>G)
c.11027A>G (p.Asp3676Gly)
c.11012A>G (p.Asp3671Gly)
c.11009A>G (p.Asp3670Gly)
c.4414A>G
c.1834A>G
c.308A>G (p.Asp103Gly)
c.11024A>G (p.Asp3675Gly)
19g.38528688A>TCA405649870RYR1c.10966A>T (n.10966A>T)
c.11027A>T (p.Asp3676Val)
c.11012A>T (p.Asp3671Val)
c.11009A>T (p.Asp3670Val)
c.4414A>T
c.1834A>T
c.308A>T (p.Asp103Val)
c.11024A>T (p.Asp3675Val)
19g.38528689C>ACA405649872RYR1c.10967C>A (n.10967C>A)
c.11028C>A (p.Asp3676Glu)
c.11013C>A (p.Asp3671Glu)
c.11010C>A (p.Asp3670Glu)
c.4415C>A
c.1835C>A
c.309C>A (p.Asp103Glu)
c.11025C>A (p.Asp3675Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
19g.38528689C=CA2335067490RYR1c.10967C= (n.10967C=)
c.11028C= (p.Asp3676=)
c.11013C= (p.Asp3671=)
c.11010C= (p.Asp3670=)
c.4415C=
c.1835C=
c.309C= (p.Asp103=)
c.11025C= (p.Asp3675=)
19g.38528689C>GCA405649871RYR1c.10967C>G (n.10967C>G)
c.11028C>G (p.Asp3676Glu)
c.11013C>G (p.Asp3671Glu)
c.11010C>G (p.Asp3670Glu)
c.4415C>G
c.1835C>G
c.309C>G (p.Asp103Glu)
c.11025C>G (p.Asp3675Glu)
19g.38528689C>TCA507354578RYR1c.10967C>T (n.10967C>T)
c.11028C>T (p.Asp3676=)
c.11013C>T (p.Asp3671=)
c.11010C>T (p.Asp3670=)
c.4415C>T
c.1835C>T
c.309C>T (p.Asp103=)
c.11025C>T (p.Asp3675=)
 gnomAD v4
19g.38528690C>ACA405649873RYR1c.10968C>A (n.10968C>A)
c.11029C>A (p.Leu3677Ile)
c.11014C>A (p.Leu3672Ile)
c.11011C>A (p.Leu3671Ile)
c.4416C>A
c.1836C>A
c.310C>A (p.Leu104Ile)
c.11026C>A (p.Leu3676Ile)
 gnomAD v4
19g.38528690C>GCA405649875RYR1c.10968C>G (n.10968C>G)
c.11029C>G (p.Leu3677Val)
c.11014C>G (p.Leu3672Val)
c.11011C>G (p.Leu3671Val)
c.4416C>G
c.1836C>G
c.310C>G (p.Leu104Val)
c.11026C>G (p.Leu3676Val)
19g.38528690C>TCA405649874RYR1c.10968C>T (n.10968C>T)
c.11029C>T (p.Leu3677Phe)
c.11014C>T (p.Leu3672Phe)
c.11011C>T (p.Leu3671Phe)
c.4416C>T
c.1836C>T
c.310C>T (p.Leu104Phe)
c.11026C>T (p.Leu3676Phe)
 dbSNP gnomAD v3 gnomAD v4
19g.38528691T>ACA405649876RYR1c.10969T>A (n.10969T>A)
c.11030T>A (p.Leu3677His)
c.11015T>A (p.Leu3672His)
c.11012T>A (p.Leu3671His)
c.4417T>A
c.1837T>A
c.311T>A (p.Leu104His)
c.11027T>A (p.Leu3676His)
19g.38528691T>CCA405649877RYR1c.10969T>C (n.10969T>C)
c.11030T>C (p.Leu3677Pro)
c.11015T>C (p.Leu3672Pro)
c.11012T>C (p.Leu3671Pro)
c.4417T>C
c.1837T>C
c.311T>C (p.Leu104Pro)
c.11027T>C (p.Leu3676Pro)
19g.38528691T>GCA405649878RYR1c.10969T>G (n.10969T>G)
c.11030T>G (p.Leu3677Arg)
c.11015T>G (p.Leu3672Arg)
c.11012T>G (p.Leu3671Arg)
c.4417T>G
c.1837T>G
c.311T>G (p.Leu104Arg)
c.11027T>G (p.Leu3676Arg)
19g.38528692T>ACA507354580RYR1c.10970T>A (n.10970T>A)
c.11031T>A (p.Leu3677=)
c.11016T>A (p.Leu3672=)
c.11013T>A (p.Leu3671=)
c.4418T>A
c.1838T>A
c.312T>A (p.Leu104=)
c.11028T>A (p.Leu3676=)
 ClinVar dbSNP
19g.38528692T>CCA507354581RYR1c.10970T>C (n.10970T>C)
c.11031T>C (p.Leu3677=)
c.11016T>C (p.Leu3672=)
c.11013T>C (p.Leu3671=)
c.4418T>C
c.1838T>C
c.312T>C (p.Leu104=)
c.11028T>C (p.Leu3676=)
19g.38528692T>GCA507354582RYR1c.10970T>G (n.10970T>G)
c.11031T>G (p.Leu3677=)
c.11016T>G (p.Leu3672=)
c.11013T>G (p.Leu3671=)
c.4418T>G
c.1838T>G
c.312T>G (p.Leu104=)
c.11028T>G (p.Leu3676=)
19g.38528692T=CA2335067491RYR1c.10970T= (n.10970T=)
c.11031T= (p.Leu3677=)
c.11016T= (p.Leu3672=)
c.11013T= (p.Leu3671=)
c.4418T=
c.1838T=
c.312T= (p.Leu104=)
c.11028T= (p.Leu3676=)
19g.38528693T>ACA405649879RYR1c.10971T>A (n.10971T>A)
c.11032T>A (p.Ser3678Thr)
c.11017T>A (p.Ser3673Thr)
c.11014T>A (p.Ser3672Thr)
c.4419T>A
c.1839T>A
c.313T>A (p.Ser105Thr)
c.11029T>A (p.Ser3677Thr)
19g.38528693T>CCA405649880RYR1c.10971T>C (n.10971T>C)
c.11032T>C (p.Ser3678Pro)
c.11017T>C (p.Ser3673Pro)
c.11014T>C (p.Ser3672Pro)
c.4419T>C
c.1839T>C
c.313T>C (p.Ser105Pro)
c.11029T>C (p.Ser3677Pro)
19g.38528693T>GCA405649881RYR1c.10971T>G (n.10971T>G)
c.11032T>G (p.Ser3678Ala)
c.11017T>G (p.Ser3673Ala)
c.11014T>G (p.Ser3672Ala)
c.4419T>G
c.1839T>G
c.313T>G (p.Ser105Ala)
c.11029T>G (p.Ser3677Ala)
19g.38528694C>ACA405649882RYR1c.10972C>A (n.10972C>A)
c.11033C>A (p.Ser3678Ter)
c.11018C>A (p.Ser3673Ter)
c.11015C>A (p.Ser3672Ter)
c.4420C>A
c.1840C>A
c.314C>A (p.Ser105Ter)
c.11030C>A (p.Ser3677Ter)
19g.38528694C>GCA405649883RYR1c.10972C>G (n.10972C>G)
c.11033C>G (p.Ser3678Ter)
c.11018C>G (p.Ser3673Ter)
c.11015C>G (p.Ser3672Ter)
c.4420C>G
c.1840C>G
c.314C>G (p.Ser105Ter)
c.11030C>G (p.Ser3677Ter)
19g.38528694C>TCA405649884RYR1c.10972C>T (n.10972C>T)
c.11033C>T (p.Ser3678Leu)
c.11018C>T (p.Ser3673Leu)
c.11015C>T (p.Ser3672Leu)
c.4420C>T
c.1840C>T
c.314C>T (p.Ser105Leu)
c.11030C>T (p.Ser3677Leu)
19g.38528695A>CCA507354584RYR1c.10973A>C (n.10973A>C)
c.11034A>C (p.Ser3678=)
c.11019A>C (p.Ser3673=)
c.11016A>C (p.Ser3672=)
c.4421A>C
c.1841A>C
c.315A>C (p.Ser105=)
c.11031A>C (p.Ser3677=)
19g.38528695A>GCA507354585RYR1c.10973A>G (n.10973A>G)
c.11034A>G (p.Ser3678=)
c.11019A>G (p.Ser3673=)
c.11016A>G (p.Ser3672=)
c.4421A>G
c.1841A>G
c.315A>G (p.Ser105=)
c.11031A>G (p.Ser3677=)
19g.38528695A>TCA507354587RYR1c.10973A>T (n.10973A>T)
c.11034A>T (p.Ser3678=)
c.11019A>T (p.Ser3673=)
c.11016A>T (p.Ser3672=)
c.4421A>T
c.1841A>T
c.315A>T (p.Ser105=)
c.11031A>T (p.Ser3677=)
19g.38528696G>ACA405649885RYR1c.10973+1G>A (n.10973+1G>A)
c.11034+1G>A (n.11034+1G>A)
c.11019+1G>A (n.11019+1G>A)
c.11016+1G>A (n.11016+1G>A)
c.4421+1G>A
c.1841+1G>A
c.315+1G>A (n.315+1G>A)
c.11031+1G>A (n.11031+1G>A)
19g.38528696G>CCA405649886RYR1c.10973+1G>C (n.10973+1G>C)
c.11034+1G>C (n.11034+1G>C)
c.11019+1G>C (n.11019+1G>C)
c.11016+1G>C (n.11016+1G>C)
c.4421+1G>C
c.1841+1G>C
c.315+1G>C (n.315+1G>C)
c.11031+1G>C (n.11031+1G>C)
19g.38528696G>TCA405649887RYR1c.10973+1G>T (n.10973+1G>T)
c.11034+1G>T (n.11034+1G>T)
c.11019+1G>T (n.11019+1G>T)
c.11016+1G>T (n.11016+1G>T)
c.4421+1G>T
c.1841+1G>T
c.315+1G>T (n.315+1G>T)
c.11031+1G>T (n.11031+1G>T)
19g.38528697T>ACA405649890RYR1c.10973+2T>A (n.10973+2T>A)
c.11034+2T>A (n.11034+2T>A)
c.11019+2T>A (n.11019+2T>A)
c.11016+2T>A (n.11016+2T>A)
c.4421+2T>A
c.1841+2T>A
c.315+2T>A (n.315+2T>A)
c.11031+2T>A (n.11031+2T>A)
19g.38528697T>CCA405649889RYR1c.10973+2T>C (n.10973+2T>C)
c.11034+2T>C (n.11034+2T>C)
c.11019+2T>C (n.11019+2T>C)
c.11016+2T>C (n.11016+2T>C)
c.4421+2T>C
c.1841+2T>C
c.315+2T>C (n.315+2T>C)
c.11031+2T>C (n.11031+2T>C)
19g.38528697T>GCA405649888RYR1c.10973+2T>G (n.10973+2T>G)
c.11034+2T>G (n.11034+2T>G)
c.11019+2T>G (n.11019+2T>G)
c.11016+2T>G (n.11016+2T>G)
c.4421+2T>G
c.1841+2T>G
c.315+2T>G (n.315+2T>G)
c.11031+2T>G (n.11031+2T>G)
19g.38528700G>TCA2584906321RYR1c.10973+5G>T (n.10973+5G>T)
c.11034+5G>T (n.11034+5G>T)
c.11019+5G>T (n.11019+5G>T)
c.11016+5G>T (n.11016+5G>T)
c.4421+5G>T
c.1841+5G>T
c.315+5G>T (n.315+5G>T)
c.11031+5G>T (n.11031+5G>T)
 gnomAD v4
19g.38528702T>CCA055653RYR1c.10973+7T>C (n.10973+7T>C)
c.11034+7T>C (n.11034+7T>C)
c.11019+7T>C (n.11019+7T>C)
c.11016+7T>C (n.11016+7T>C)
c.4421+7T>C
c.1841+7T>C
c.315+7T>C (n.315+7T>C)
c.11031+7T>C (n.11031+7T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.38528702T=CA2335067492RYR1c.10973+7T= (n.10973+7T=)
c.11034+7T= (n.11034+7T=)
c.11019+7T= (n.11019+7T=)
c.11016+7T= (n.11016+7T=)
c.4421+7T=
c.1841+7T=
c.315+7T= (n.315+7T=)
c.11031+7T= (n.11031+7T=)
19g.38528703G>ACA308082068RYR1c.10973+8G>A (n.10973+8G>A)
c.11034+8G>A (n.11034+8G>A)
c.11019+8G>A (n.11019+8G>A)
c.11016+8G>A (n.11016+8G>A)
c.4421+8G>A
c.1841+8G>A
c.315+8G>A (n.315+8G>A)
c.11031+8G>A (n.11031+8G>A)
 dbSNP
19g.38528703G=CA2335067493RYR1c.10973+8G= (n.10973+8G=)
c.11034+8G= (n.11034+8G=)
c.11019+8G= (n.11019+8G=)
c.11016+8G= (n.11016+8G=)
c.4421+8G=
c.1841+8G=
c.315+8G= (n.315+8G=)
c.11031+8G= (n.11031+8G=)

Number of alleles fetched