Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.237784090G>ACA424032091RYR2c.*3470G>A (n.*3470G>A)
c.12366G>A (p.Leu4122=)
c.12399G>A (p.Leu4133=)
c.4555G>A
c.12378G>A (p.Leu4126=)
c.2431G>A
c.12330G>A (p.Leu4110=)
n.3573G>A
c.12432G>A (p.Leu4144=)
c.12429G>A (p.Leu4143=)
c.12408G>A (p.Leu4136=)
c.12402G>A (p.Leu4134=)
c.12396G>A (p.Leu4132=)
c.12372G>A (p.Leu4124=)
c.12195G>A (p.Leu4065=)
c.12339G>A (p.Leu4113=)
c.12411G>A (p.Leu4137=)
 ClinVar COSMIC COSMIC
1g.237784090G>CCA424032092RYR2c.*3470G>C (n.*3470G>C)
c.12366G>C (p.Leu4122=)
c.12399G>C (p.Leu4133=)
c.4555G>C
c.12378G>C (p.Leu4126=)
c.2431G>C
c.12330G>C (p.Leu4110=)
n.3573G>C
c.12432G>C (p.Leu4144=)
c.12429G>C (p.Leu4143=)
c.12408G>C (p.Leu4136=)
c.12402G>C (p.Leu4134=)
c.12396G>C (p.Leu4132=)
c.12372G>C (p.Leu4124=)
c.12195G>C (p.Leu4065=)
c.12339G>C (p.Leu4113=)
c.12411G>C (p.Leu4137=)
 ClinVar dbSNP
1g.237784090G=CA2487482382RYR2c.*3470G= (n.*3470G=)
c.12366G= (p.Leu4122=)
c.12399G= (p.Leu4133=)
c.4555G=
c.12378G= (p.Leu4126=)
c.2431G=
c.12330G= (p.Leu4110=)
n.3573G=
c.12432G= (p.Leu4144=)
c.12429G= (p.Leu4143=)
c.12408G= (p.Leu4136=)
c.12402G= (p.Leu4134=)
c.12396G= (p.Leu4132=)
c.12372G= (p.Leu4124=)
c.12195G= (p.Leu4065=)
c.12339G= (p.Leu4113=)
c.12411G= (p.Leu4137=)
1g.237784090G>TCA39827547RYR2c.*3470G>T (n.*3470G>T)
c.12366G>T (p.Leu4122=)
c.12399G>T (p.Leu4133=)
c.4555G>T
c.12378G>T (p.Leu4126=)
c.2431G>T
c.12330G>T (p.Leu4110=)
n.3573G>T
c.12432G>T (p.Leu4144=)
c.12429G>T (p.Leu4143=)
c.12408G>T (p.Leu4136=)
c.12402G>T (p.Leu4134=)
c.12396G>T (p.Leu4132=)
c.12372G>T (p.Leu4124=)
c.12195G>T (p.Leu4065=)
c.12339G>T (p.Leu4113=)
c.12411G>T (p.Leu4137=)
 dbSNP
1g.237784091A=CA1148225104RYR2c.*3471A= (n.*3471A=)
c.12367A= (p.Asn4123=)
c.12400A= (p.Asn4134=)
c.4556A=
c.12379A= (p.Asn4127=)
c.2432A=
c.12331A= (p.Asn4111=)
n.3574A=
c.12433A= (p.Asn4145=)
c.12430A= (p.Asn4144=)
c.12409A= (p.Asn4137=)
c.12403A= (p.Asn4135=)
c.12397A= (p.Asn4133=)
c.12373A= (p.Asn4125=)
c.12196A= (p.Asn4066=)
c.12340A= (p.Asn4114=)
c.12412A= (p.Asn4138=)
1g.237784091A>CCA007502RYR2c.*3471A>C (n.*3471A>C)
c.12367A>C (p.Asn4123His)
c.12400A>C (p.Asn4134His)
c.4556A>C
c.12379A>C (p.Asn4127His)
c.2432A>C
c.12331A>C (p.Asn4111His)
n.3574A>C
c.12433A>C (p.Asn4145His)
c.12430A>C (p.Asn4144His)
c.12409A>C (p.Asn4137His)
c.12403A>C (p.Asn4135His)
c.12397A>C (p.Asn4133His)
c.12373A>C (p.Asn4125His)
c.12196A>C (p.Asn4066His)
c.12340A>C (p.Asn4114His)
c.12412A>C (p.Asn4138His)
 ClinVar dbSNP
1g.237784091A>GCA345413086RYR2c.*3471A>G (n.*3471A>G)
c.12367A>G (p.Asn4123Asp)
c.12400A>G (p.Asn4134Asp)
c.4556A>G
c.12379A>G (p.Asn4127Asp)
c.2432A>G
c.12331A>G (p.Asn4111Asp)
n.3574A>G
c.12433A>G (p.Asn4145Asp)
c.12430A>G (p.Asn4144Asp)
c.12409A>G (p.Asn4137Asp)
c.12403A>G (p.Asn4135Asp)
c.12397A>G (p.Asn4133Asp)
c.12373A>G (p.Asn4125Asp)
c.12196A>G (p.Asn4066Asp)
c.12340A>G (p.Asn4114Asp)
c.12412A>G (p.Asn4138Asp)
1g.237784091A>TCA345413085RYR2c.*3471A>T (n.*3471A>T)
c.12367A>T (p.Asn4123Tyr)
c.12400A>T (p.Asn4134Tyr)
c.4556A>T
c.12379A>T (p.Asn4127Tyr)
c.2432A>T
c.12331A>T (p.Asn4111Tyr)
n.3574A>T
c.12433A>T (p.Asn4145Tyr)
c.12430A>T (p.Asn4144Tyr)
c.12409A>T (p.Asn4137Tyr)
c.12403A>T (p.Asn4135Tyr)
c.12397A>T (p.Asn4133Tyr)
c.12373A>T (p.Asn4125Tyr)
c.12196A>T (p.Asn4066Tyr)
c.12340A>T (p.Asn4114Tyr)
c.12412A>T (p.Asn4138Tyr)
1g.237784092A>CCA345413087RYR2c.*3472A>C (n.*3472A>C)
c.12368A>C (p.Asn4123Thr)
c.12401A>C (p.Asn4134Thr)
c.4557A>C
c.12380A>C (p.Asn4127Thr)
c.2433A>C
c.12332A>C (p.Asn4111Thr)
n.3575A>C
c.12434A>C (p.Asn4145Thr)
c.12431A>C (p.Asn4144Thr)
c.12410A>C (p.Asn4137Thr)
c.12404A>C (p.Asn4135Thr)
c.12398A>C (p.Asn4133Thr)
c.12374A>C (p.Asn4125Thr)
c.12197A>C (p.Asn4066Thr)
c.12341A>C (p.Asn4114Thr)
c.12413A>C (p.Asn4138Thr)
1g.237784092A>GCA345413088RYR2c.*3472A>G (n.*3472A>G)
c.12368A>G (p.Asn4123Ser)
c.12401A>G (p.Asn4134Ser)
c.4557A>G
c.12380A>G (p.Asn4127Ser)
c.2433A>G
c.12332A>G (p.Asn4111Ser)
n.3575A>G
c.12434A>G (p.Asn4145Ser)
c.12431A>G (p.Asn4144Ser)
c.12410A>G (p.Asn4137Ser)
c.12404A>G (p.Asn4135Ser)
c.12398A>G (p.Asn4133Ser)
c.12374A>G (p.Asn4125Ser)
c.12197A>G (p.Asn4066Ser)
c.12341A>G (p.Asn4114Ser)
c.12413A>G (p.Asn4138Ser)
1g.237784092A>TCA345413089RYR2c.*3472A>T (n.*3472A>T)
c.12368A>T (p.Asn4123Ile)
c.12401A>T (p.Asn4134Ile)
c.4557A>T
c.12380A>T (p.Asn4127Ile)
c.2433A>T
c.12332A>T (p.Asn4111Ile)
n.3575A>T
c.12434A>T (p.Asn4145Ile)
c.12431A>T (p.Asn4144Ile)
c.12410A>T (p.Asn4137Ile)
c.12404A>T (p.Asn4135Ile)
c.12398A>T (p.Asn4133Ile)
c.12374A>T (p.Asn4125Ile)
c.12197A>T (p.Asn4066Ile)
c.12341A>T (p.Asn4114Ile)
c.12413A>T (p.Asn4138Ile)
1g.237784093T>ACA345413090RYR2c.*3473T>A (n.*3473T>A)
c.12369T>A (p.Asn4123Lys)
c.12402T>A (p.Asn4134Lys)
c.4558T>A
c.12381T>A (p.Asn4127Lys)
c.2434T>A
c.12333T>A (p.Asn4111Lys)
n.3576T>A
c.12435T>A (p.Asn4145Lys)
c.12432T>A (p.Asn4144Lys)
c.12411T>A (p.Asn4137Lys)
c.12405T>A (p.Asn4135Lys)
c.12399T>A (p.Asn4133Lys)
c.12375T>A (p.Asn4125Lys)
c.12198T>A (p.Asn4066Lys)
c.12342T>A (p.Asn4114Lys)
c.12414T>A (p.Asn4138Lys)
1g.237784093T>CCA424032099RYR2c.*3473T>C (n.*3473T>C)
c.12369T>C (p.Asn4123=)
c.12402T>C (p.Asn4134=)
c.4558T>C
c.12381T>C (p.Asn4127=)
c.2434T>C
c.12333T>C (p.Asn4111=)
n.3576T>C
c.12435T>C (p.Asn4145=)
c.12432T>C (p.Asn4144=)
c.12411T>C (p.Asn4137=)
c.12405T>C (p.Asn4135=)
c.12399T>C (p.Asn4133=)
c.12375T>C (p.Asn4125=)
c.12198T>C (p.Asn4066=)
c.12342T>C (p.Asn4114=)
c.12414T>C (p.Asn4138=)
1g.237784093T>GCA345413091RYR2c.*3473T>G (n.*3473T>G)
c.12369T>G (p.Asn4123Lys)
c.12402T>G (p.Asn4134Lys)
c.4558T>G
c.12381T>G (p.Asn4127Lys)
c.2434T>G
c.12333T>G (p.Asn4111Lys)
n.3576T>G
c.12435T>G (p.Asn4145Lys)
c.12432T>G (p.Asn4144Lys)
c.12411T>G (p.Asn4137Lys)
c.12405T>G (p.Asn4135Lys)
c.12399T>G (p.Asn4133Lys)
c.12375T>G (p.Asn4125Lys)
c.12198T>G (p.Asn4066Lys)
c.12342T>G (p.Asn4114Lys)
c.12414T>G (p.Asn4138Lys)
1g.237784094T>ACA345413092RYR2c.*3474T>A (n.*3474T>A)
c.12370T>A (p.Tyr4124Asn)
c.12403T>A (p.Tyr4135Asn)
c.4559T>A
c.12382T>A (p.Tyr4128Asn)
c.2435T>A
c.12334T>A (p.Tyr4112Asn)
n.3577T>A
c.12436T>A (p.Tyr4146Asn)
c.12433T>A (p.Tyr4145Asn)
c.12412T>A (p.Tyr4138Asn)
c.12406T>A (p.Tyr4136Asn)
c.12400T>A (p.Tyr4134Asn)
c.12376T>A (p.Tyr4126Asn)
c.12199T>A (p.Tyr4067Asn)
c.12343T>A (p.Tyr4115Asn)
c.12415T>A (p.Tyr4139Asn)
1g.237784094T>CCA345413093RYR2c.*3474T>C (n.*3474T>C)
c.12370T>C (p.Tyr4124His)
c.12403T>C (p.Tyr4135His)
c.4559T>C
c.12382T>C (p.Tyr4128His)
c.2435T>C
c.12334T>C (p.Tyr4112His)
n.3577T>C
c.12436T>C (p.Tyr4146His)
c.12433T>C (p.Tyr4145His)
c.12412T>C (p.Tyr4138His)
c.12406T>C (p.Tyr4136His)
c.12400T>C (p.Tyr4134His)
c.12376T>C (p.Tyr4126His)
c.12199T>C (p.Tyr4067His)
c.12343T>C (p.Tyr4115His)
c.12415T>C (p.Tyr4139His)
1g.237784094T>GCA345413094RYR2c.*3474T>G (n.*3474T>G)
c.12370T>G (p.Tyr4124Asp)
c.12403T>G (p.Tyr4135Asp)
c.4559T>G
c.12382T>G (p.Tyr4128Asp)
c.2435T>G
c.12334T>G (p.Tyr4112Asp)
n.3577T>G
c.12436T>G (p.Tyr4146Asp)
c.12433T>G (p.Tyr4145Asp)
c.12412T>G (p.Tyr4138Asp)
c.12406T>G (p.Tyr4136Asp)
c.12400T>G (p.Tyr4134Asp)
c.12376T>G (p.Tyr4126Asp)
c.12199T>G (p.Tyr4067Asp)
c.12343T>G (p.Tyr4115Asp)
c.12415T>G (p.Tyr4139Asp)
1g.237784095A>CCA345413095RYR2c.*3475A>C (n.*3475A>C)
c.12371A>C (p.Tyr4124Ser)
c.12404A>C (p.Tyr4135Ser)
c.4560A>C
c.12383A>C (p.Tyr4128Ser)
c.2436A>C
c.12335A>C (p.Tyr4112Ser)
n.3578A>C
c.12437A>C (p.Tyr4146Ser)
c.12434A>C (p.Tyr4145Ser)
c.12413A>C (p.Tyr4138Ser)
c.12407A>C (p.Tyr4136Ser)
c.12401A>C (p.Tyr4134Ser)
c.12377A>C (p.Tyr4126Ser)
c.12200A>C (p.Tyr4067Ser)
c.12344A>C (p.Tyr4115Ser)
c.12416A>C (p.Tyr4139Ser)
1g.237784095A>GCA345413096RYR2c.*3475A>G (n.*3475A>G)
c.12371A>G (p.Tyr4124Cys)
c.12404A>G (p.Tyr4135Cys)
c.4560A>G
c.12383A>G (p.Tyr4128Cys)
c.2436A>G
c.12335A>G (p.Tyr4112Cys)
n.3578A>G
c.12437A>G (p.Tyr4146Cys)
c.12434A>G (p.Tyr4145Cys)
c.12413A>G (p.Tyr4138Cys)
c.12407A>G (p.Tyr4136Cys)
c.12401A>G (p.Tyr4134Cys)
c.12377A>G (p.Tyr4126Cys)
c.12200A>G (p.Tyr4067Cys)
c.12344A>G (p.Tyr4115Cys)
c.12416A>G (p.Tyr4139Cys)
1g.237784095A>TCA345413097RYR2c.*3475A>T (n.*3475A>T)
c.12371A>T (p.Tyr4124Phe)
c.12404A>T (p.Tyr4135Phe)
c.4560A>T
c.12383A>T (p.Tyr4128Phe)
c.2436A>T
c.12335A>T (p.Tyr4112Phe)
n.3578A>T
c.12437A>T (p.Tyr4146Phe)
c.12434A>T (p.Tyr4145Phe)
c.12413A>T (p.Tyr4138Phe)
c.12407A>T (p.Tyr4136Phe)
c.12401A>T (p.Tyr4134Phe)
c.12377A>T (p.Tyr4126Phe)
c.12200A>T (p.Tyr4067Phe)
c.12344A>T (p.Tyr4115Phe)
c.12416A>T (p.Tyr4139Phe)
1g.237784096T>ACA345413098RYR2c.*3476T>A (n.*3476T>A)
c.12372T>A (p.Tyr4124Ter)
c.12405T>A (p.Tyr4135Ter)
c.4561T>A
c.12384T>A (p.Tyr4128Ter)
c.2437T>A
c.12336T>A (p.Tyr4112Ter)
n.3579T>A
c.12438T>A (p.Tyr4146Ter)
c.12435T>A (p.Tyr4145Ter)
c.12414T>A (p.Tyr4138Ter)
c.12408T>A (p.Tyr4136Ter)
c.12402T>A (p.Tyr4134Ter)
c.12378T>A (p.Tyr4126Ter)
c.12201T>A (p.Tyr4067Ter)
c.12345T>A (p.Tyr4115Ter)
c.12417T>A (p.Tyr4139Ter)
1g.237784096T>CCA424032103RYR2c.*3476T>C (n.*3476T>C)
c.12372T>C (p.Tyr4124=)
c.12405T>C (p.Tyr4135=)
c.4561T>C
c.12384T>C (p.Tyr4128=)
c.2437T>C
c.12336T>C (p.Tyr4112=)
n.3579T>C
c.12438T>C (p.Tyr4146=)
c.12435T>C (p.Tyr4145=)
c.12414T>C (p.Tyr4138=)
c.12408T>C (p.Tyr4136=)
c.12402T>C (p.Tyr4134=)
c.12378T>C (p.Tyr4126=)
c.12201T>C (p.Tyr4067=)
c.12345T>C (p.Tyr4115=)
c.12417T>C (p.Tyr4139=)
1g.237784096T>GCA345413099RYR2c.*3476T>G (n.*3476T>G)
c.12372T>G (p.Tyr4124Ter)
c.12405T>G (p.Tyr4135Ter)
c.4561T>G
c.12384T>G (p.Tyr4128Ter)
c.2437T>G
c.12336T>G (p.Tyr4112Ter)
n.3579T>G
c.12438T>G (p.Tyr4146Ter)
c.12435T>G (p.Tyr4145Ter)
c.12414T>G (p.Tyr4138Ter)
c.12408T>G (p.Tyr4136Ter)
c.12402T>G (p.Tyr4134Ter)
c.12378T>G (p.Tyr4126Ter)
c.12201T>G (p.Tyr4067Ter)
c.12345T>G (p.Tyr4115Ter)
c.12417T>G (p.Tyr4139Ter)
1g.237784098delCA2580062461RYR2c.*3478del (n.*3478del)
c.12374del (p.Phe4125SerfsTer?)
c.12407del (p.Phe4136SerfsTer?)
c.4563del
c.12386del (p.Phe4129SerfsTer?)
c.2439del
c.12338del (p.Phe4113SerfsTer?)
n.3581del
c.12440del (p.Phe4147SerfsTer?)
c.12437del (p.Phe4146SerfsTer?)
c.12416del (p.Phe4139SerfsTer?)
c.12410del (p.Phe4137SerfsTer?)
c.12404del (p.Phe4135SerfsTer?)
c.12380del (p.Phe4127SerfsTer?)
c.12203del (p.Phe4068SerfsTer?)
c.12347del (p.Phe4116SerfsTer?)
c.12419del (p.Phe4140SerfsTer?)
 ClinVar
1g.237784097T>ACA345413100RYR2c.*3477T>A (n.*3477T>A)
c.12373T>A (p.Phe4125Ile)
c.12406T>A (p.Phe4136Ile)
c.4562T>A
c.12385T>A (p.Phe4129Ile)
c.2438T>A
c.12337T>A (p.Phe4113Ile)
n.3580T>A
c.12439T>A (p.Phe4147Ile)
c.12436T>A (p.Phe4146Ile)
c.12415T>A (p.Phe4139Ile)
c.12409T>A (p.Phe4137Ile)
c.12403T>A (p.Phe4135Ile)
c.12379T>A (p.Phe4127Ile)
c.12202T>A (p.Phe4068Ile)
c.12346T>A (p.Phe4116Ile)
c.12418T>A (p.Phe4140Ile)
1g.237784097T>CCA345413102RYR2c.*3477T>C (n.*3477T>C)
c.12373T>C (p.Phe4125Leu)
c.12406T>C (p.Phe4136Leu)
c.4562T>C
c.12385T>C (p.Phe4129Leu)
c.2438T>C
c.12337T>C (p.Phe4113Leu)
n.3580T>C
c.12439T>C (p.Phe4147Leu)
c.12436T>C (p.Phe4146Leu)
c.12415T>C (p.Phe4139Leu)
c.12409T>C (p.Phe4137Leu)
c.12403T>C (p.Phe4135Leu)
c.12379T>C (p.Phe4127Leu)
c.12202T>C (p.Phe4068Leu)
c.12346T>C (p.Phe4116Leu)
c.12418T>C (p.Phe4140Leu)
 ClinVar dbSNP
1g.237784097T>GCA345413101RYR2c.*3477T>G (n.*3477T>G)
c.12373T>G (p.Phe4125Val)
c.12406T>G (p.Phe4136Val)
c.4562T>G
c.12385T>G (p.Phe4129Val)
c.2438T>G
c.12337T>G (p.Phe4113Val)
n.3580T>G
c.12439T>G (p.Phe4147Val)
c.12436T>G (p.Phe4146Val)
c.12415T>G (p.Phe4139Val)
c.12409T>G (p.Phe4137Val)
c.12403T>G (p.Phe4135Val)
c.12379T>G (p.Phe4127Val)
c.12202T>G (p.Phe4068Val)
c.12346T>G (p.Phe4116Val)
c.12418T>G (p.Phe4140Val)
 ClinVar dbSNP
1g.237784097T=CA2487482383RYR2c.*3477T= (n.*3477T=)
c.12373T= (p.Phe4125=)
c.12406T= (p.Phe4136=)
c.4562T=
c.12385T= (p.Phe4129=)
c.2438T=
c.12337T= (p.Phe4113=)
n.3580T=
c.12439T= (p.Phe4147=)
c.12436T= (p.Phe4146=)
c.12415T= (p.Phe4139=)
c.12409T= (p.Phe4137=)
c.12403T= (p.Phe4135=)
c.12379T= (p.Phe4127=)
c.12202T= (p.Phe4068=)
c.12346T= (p.Phe4116=)
c.12418T= (p.Phe4140=)
1g.237784098T>ACA345413103RYR2c.*3478T>A (n.*3478T>A)
c.12374T>A (p.Phe4125Tyr)
c.12407T>A (p.Phe4136Tyr)
c.4563T>A
c.12386T>A (p.Phe4129Tyr)
c.2439T>A
c.12338T>A (p.Phe4113Tyr)
n.3581T>A
c.12440T>A (p.Phe4147Tyr)
c.12437T>A (p.Phe4146Tyr)
c.12416T>A (p.Phe4139Tyr)
c.12410T>A (p.Phe4137Tyr)
c.12404T>A (p.Phe4135Tyr)
c.12380T>A (p.Phe4127Tyr)
c.12203T>A (p.Phe4068Tyr)
c.12347T>A (p.Phe4116Tyr)
c.12419T>A (p.Phe4140Tyr)
1g.237784098T>CCA345413104RYR2c.*3478T>C (n.*3478T>C)
c.12374T>C (p.Phe4125Ser)
c.12407T>C (p.Phe4136Ser)
c.4563T>C
c.12386T>C (p.Phe4129Ser)
c.2439T>C
c.12338T>C (p.Phe4113Ser)
n.3581T>C
c.12440T>C (p.Phe4147Ser)
c.12437T>C (p.Phe4146Ser)
c.12416T>C (p.Phe4139Ser)
c.12410T>C (p.Phe4137Ser)
c.12404T>C (p.Phe4135Ser)
c.12380T>C (p.Phe4127Ser)
c.12203T>C (p.Phe4068Ser)
c.12347T>C (p.Phe4116Ser)
c.12419T>C (p.Phe4140Ser)
1g.237784098T>GCA345413105RYR2c.*3478T>G (n.*3478T>G)
c.12374T>G (p.Phe4125Cys)
c.12407T>G (p.Phe4136Cys)
c.4563T>G
c.12386T>G (p.Phe4129Cys)
c.2439T>G
c.12338T>G (p.Phe4113Cys)
n.3581T>G
c.12440T>G (p.Phe4147Cys)
c.12437T>G (p.Phe4146Cys)
c.12416T>G (p.Phe4139Cys)
c.12410T>G (p.Phe4137Cys)
c.12404T>G (p.Phe4135Cys)
c.12380T>G (p.Phe4127Cys)
c.12203T>G (p.Phe4068Cys)
c.12347T>G (p.Phe4116Cys)
c.12419T>G (p.Phe4140Cys)
1g.237784099C>ACA345413106RYR2c.*3479C>A (n.*3479C>A)
c.12375C>A (p.Phe4125Leu)
c.12408C>A (p.Phe4136Leu)
c.4564C>A
c.12387C>A (p.Phe4129Leu)
c.2440C>A
c.12339C>A (p.Phe4113Leu)
n.3582C>A
c.12441C>A (p.Phe4147Leu)
c.12438C>A (p.Phe4146Leu)
c.12417C>A (p.Phe4139Leu)
c.12411C>A (p.Phe4137Leu)
c.12405C>A (p.Phe4135Leu)
c.12381C>A (p.Phe4127Leu)
c.12204C>A (p.Phe4068Leu)
c.12348C>A (p.Phe4116Leu)
c.12420C>A (p.Phe4140Leu)
1g.237784099C=CA2487482384RYR2c.*3479C= (n.*3479C=)
c.12375C= (p.Phe4125=)
c.12408C= (p.Phe4136=)
c.4564C=
c.12387C= (p.Phe4129=)
c.2440C=
c.12339C= (p.Phe4113=)
n.3582C=
c.12441C= (p.Phe4147=)
c.12438C= (p.Phe4146=)
c.12417C= (p.Phe4139=)
c.12411C= (p.Phe4137=)
c.12405C= (p.Phe4135=)
c.12381C= (p.Phe4127=)
c.12204C= (p.Phe4068=)
c.12348C= (p.Phe4116=)
c.12420C= (p.Phe4140=)
1g.237784099C>GCA345413107RYR2c.*3479C>G (n.*3479C>G)
c.12375C>G (p.Phe4125Leu)
c.12408C>G (p.Phe4136Leu)
c.4564C>G
c.12387C>G (p.Phe4129Leu)
c.2440C>G
c.12339C>G (p.Phe4113Leu)
n.3582C>G
c.12441C>G (p.Phe4147Leu)
c.12438C>G (p.Phe4146Leu)
c.12417C>G (p.Phe4139Leu)
c.12411C>G (p.Phe4137Leu)
c.12405C>G (p.Phe4135Leu)
c.12381C>G (p.Phe4127Leu)
c.12204C>G (p.Phe4068Leu)
c.12348C>G (p.Phe4116Leu)
c.12420C>G (p.Phe4140Leu)
 gnomAD v4
1g.237784099C>TCA424032107RYR2c.*3479C>T (n.*3479C>T)
c.12375C>T (p.Phe4125=)
c.12408C>T (p.Phe4136=)
c.4564C>T
c.12387C>T (p.Phe4129=)
c.2440C>T
c.12339C>T (p.Phe4113=)
n.3582C>T
c.12441C>T (p.Phe4147=)
c.12438C>T (p.Phe4146=)
c.12417C>T (p.Phe4139=)
c.12411C>T (p.Phe4137=)
c.12405C>T (p.Phe4135=)
c.12381C>T (p.Phe4127=)
c.12204C>T (p.Phe4068=)
c.12348C>T (p.Phe4116=)
c.12420C>T (p.Phe4140=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.237784100C>ACA345413108RYR2c.*3480C>A (n.*3480C>A)
c.12376C>A (p.Gln4126Lys)
c.12409C>A (p.Gln4137Lys)
c.4565C>A
c.12388C>A (p.Gln4130Lys)
c.2441C>A
c.12340C>A (p.Gln4114Lys)
n.3583C>A
c.12442C>A (p.Gln4148Lys)
c.12439C>A (p.Gln4147Lys)
c.12418C>A (p.Gln4140Lys)
c.12412C>A (p.Gln4138Lys)
c.12406C>A (p.Gln4136Lys)
c.12382C>A (p.Gln4128Lys)
c.12205C>A (p.Gln4069Lys)
c.12349C>A (p.Gln4117Lys)
c.12421C>A (p.Gln4141Lys)
1g.237784100C>GCA345413109RYR2c.*3480C>G (n.*3480C>G)
c.12376C>G (p.Gln4126Glu)
c.12409C>G (p.Gln4137Glu)
c.4565C>G
c.12388C>G (p.Gln4130Glu)
c.2441C>G
c.12340C>G (p.Gln4114Glu)
n.3583C>G
c.12442C>G (p.Gln4148Glu)
c.12439C>G (p.Gln4147Glu)
c.12418C>G (p.Gln4140Glu)
c.12412C>G (p.Gln4138Glu)
c.12406C>G (p.Gln4136Glu)
c.12382C>G (p.Gln4128Glu)
c.12205C>G (p.Gln4069Glu)
c.12349C>G (p.Gln4117Glu)
c.12421C>G (p.Gln4141Glu)
1g.237784100C>TCA345413110RYR2c.*3480C>T (n.*3480C>T)
c.12376C>T (p.Gln4126Ter)
c.12409C>T (p.Gln4137Ter)
c.4565C>T
c.12388C>T (p.Gln4130Ter)
c.2441C>T
c.12340C>T (p.Gln4114Ter)
n.3583C>T
c.12442C>T (p.Gln4148Ter)
c.12439C>T (p.Gln4147Ter)
c.12418C>T (p.Gln4140Ter)
c.12412C>T (p.Gln4138Ter)
c.12406C>T (p.Gln4136Ter)
c.12382C>T (p.Gln4128Ter)
c.12205C>T (p.Gln4069Ter)
c.12349C>T (p.Gln4117Ter)
c.12421C>T (p.Gln4141Ter)
1g.237784101A>CCA345413111RYR2c.*3481A>C (n.*3481A>C)
c.12377A>C (p.Gln4126Pro)
c.12410A>C (p.Gln4137Pro)
c.4566A>C
c.12389A>C (p.Gln4130Pro)
c.2442A>C
c.12341A>C (p.Gln4114Pro)
n.3584A>C
c.12443A>C (p.Gln4148Pro)
c.12440A>C (p.Gln4147Pro)
c.12419A>C (p.Gln4140Pro)
c.12413A>C (p.Gln4138Pro)
c.12407A>C (p.Gln4136Pro)
c.12383A>C (p.Gln4128Pro)
c.12206A>C (p.Gln4069Pro)
c.12350A>C (p.Gln4117Pro)
c.12422A>C (p.Gln4141Pro)
1g.237784101A>GCA345413112RYR2c.*3481A>G (n.*3481A>G)
c.12377A>G (p.Gln4126Arg)
c.12410A>G (p.Gln4137Arg)
c.4566A>G
c.12389A>G (p.Gln4130Arg)
c.2442A>G
c.12341A>G (p.Gln4114Arg)
n.3584A>G
c.12443A>G (p.Gln4148Arg)
c.12440A>G (p.Gln4147Arg)
c.12419A>G (p.Gln4140Arg)
c.12413A>G (p.Gln4138Arg)
c.12407A>G (p.Gln4136Arg)
c.12383A>G (p.Gln4128Arg)
c.12206A>G (p.Gln4069Arg)
c.12350A>G (p.Gln4117Arg)
c.12422A>G (p.Gln4141Arg)
1g.237784101A>TCA345413113RYR2c.*3481A>T (n.*3481A>T)
c.12377A>T (p.Gln4126Leu)
c.12410A>T (p.Gln4137Leu)
c.4566A>T
c.12389A>T (p.Gln4130Leu)
c.2442A>T
c.12341A>T (p.Gln4114Leu)
n.3584A>T
c.12443A>T (p.Gln4148Leu)
c.12440A>T (p.Gln4147Leu)
c.12419A>T (p.Gln4140Leu)
c.12413A>T (p.Gln4138Leu)
c.12407A>T (p.Gln4136Leu)
c.12383A>T (p.Gln4128Leu)
c.12206A>T (p.Gln4069Leu)
c.12350A>T (p.Gln4117Leu)
c.12422A>T (p.Gln4141Leu)
1g.237784102G>ACA424032109RYR2c.*3482G>A (n.*3482G>A)
c.12378G>A (p.Gln4126=)
c.12411G>A (p.Gln4137=)
c.4567G>A
c.12390G>A (p.Gln4130=)
c.2443G>A
c.12342G>A (p.Gln4114=)
n.3585G>A
c.12444G>A (p.Gln4148=)
c.12441G>A (p.Gln4147=)
c.12420G>A (p.Gln4140=)
c.12414G>A (p.Gln4138=)
c.12408G>A (p.Gln4136=)
c.12384G>A (p.Gln4128=)
c.12207G>A (p.Gln4069=)
c.12351G>A (p.Gln4117=)
c.12423G>A (p.Gln4141=)
1g.237784102G>CCA345413115RYR2c.*3482G>C (n.*3482G>C)
c.12378G>C (p.Gln4126His)
c.12411G>C (p.Gln4137His)
c.4567G>C
c.12390G>C (p.Gln4130His)
c.2443G>C
c.12342G>C (p.Gln4114His)
n.3585G>C
c.12444G>C (p.Gln4148His)
c.12441G>C (p.Gln4147His)
c.12420G>C (p.Gln4140His)
c.12414G>C (p.Gln4138His)
c.12408G>C (p.Gln4136His)
c.12384G>C (p.Gln4128His)
c.12207G>C (p.Gln4069His)
c.12351G>C (p.Gln4117His)
c.12423G>C (p.Gln4141His)
1g.237784102G>TCA345413114RYR2c.*3482G>T (n.*3482G>T)
c.12378G>T (p.Gln4126His)
c.12411G>T (p.Gln4137His)
c.4567G>T
c.12390G>T (p.Gln4130His)
c.2443G>T
c.12342G>T (p.Gln4114His)
n.3585G>T
c.12444G>T (p.Gln4148His)
c.12441G>T (p.Gln4147His)
c.12420G>T (p.Gln4140His)
c.12414G>T (p.Gln4138His)
c.12408G>T (p.Gln4136His)
c.12384G>T (p.Gln4128His)
c.12207G>T (p.Gln4069His)
c.12351G>T (p.Gln4117His)
c.12423G>T (p.Gln4141His)
1g.237784102dupCA2651213122RYR2c.*3482dup (n.*3482dup)
c.12378dup (p.Pro4127AlafsTer21)
c.12411dup (p.Pro4138AlafsTer21)
c.4567dup
c.12390dup (p.Pro4131AlafsTer21)
c.2443dup
c.12342dup (p.Pro4115AlafsTer21)
n.3585dup
c.12444dup (p.Pro4149AlafsTer21)
c.12441dup (p.Pro4148AlafsTer21)
c.12420dup (p.Pro4141AlafsTer21)
c.12414dup (p.Pro4139AlafsTer21)
c.12408dup (p.Pro4137AlafsTer21)
c.12384dup (p.Pro4129AlafsTer21)
c.12207dup (p.Pro4070AlafsTer21)
c.12351dup (p.Pro4118AlafsTer21)
c.12423dup (p.Pro4142AlafsTer21)
 gnomAD v4
1g.237784103C>ACA345413116RYR2c.*3483C>A (n.*3483C>A)
c.12379C>A (p.Pro4127Thr)
c.12412C>A (p.Pro4138Thr)
c.4568C>A
c.12391C>A (p.Pro4131Thr)
c.2444C>A
c.12343C>A (p.Pro4115Thr)
n.3586C>A
c.12445C>A (p.Pro4149Thr)
c.12442C>A (p.Pro4148Thr)
c.12421C>A (p.Pro4141Thr)
c.12415C>A (p.Pro4139Thr)
c.12409C>A (p.Pro4137Thr)
c.12385C>A (p.Pro4129Thr)
c.12208C>A (p.Pro4070Thr)
c.12352C>A (p.Pro4118Thr)
c.12424C>A (p.Pro4142Thr)
1g.237784103C>GCA345413117RYR2c.*3483C>G (n.*3483C>G)
c.12379C>G (p.Pro4127Ala)
c.12412C>G (p.Pro4138Ala)
c.4568C>G
c.12391C>G (p.Pro4131Ala)
c.2444C>G
c.12343C>G (p.Pro4115Ala)
n.3586C>G
c.12445C>G (p.Pro4149Ala)
c.12442C>G (p.Pro4148Ala)
c.12421C>G (p.Pro4141Ala)
c.12415C>G (p.Pro4139Ala)
c.12409C>G (p.Pro4137Ala)
c.12385C>G (p.Pro4129Ala)
c.12208C>G (p.Pro4070Ala)
c.12352C>G (p.Pro4118Ala)
c.12424C>G (p.Pro4142Ala)
1g.237784103C>TCA345413118RYR2c.*3483C>T (n.*3483C>T)
c.12379C>T (p.Pro4127Ser)
c.12412C>T (p.Pro4138Ser)
c.4568C>T
c.12391C>T (p.Pro4131Ser)
c.2444C>T
c.12343C>T (p.Pro4115Ser)
n.3586C>T
c.12445C>T (p.Pro4149Ser)
c.12442C>T (p.Pro4148Ser)
c.12421C>T (p.Pro4141Ser)
c.12415C>T (p.Pro4139Ser)
c.12409C>T (p.Pro4137Ser)
c.12385C>T (p.Pro4129Ser)
c.12208C>T (p.Pro4070Ser)
c.12352C>T (p.Pro4118Ser)
c.12424C>T (p.Pro4142Ser)
1g.237784104C>ACA345413119RYR2c.*3484C>A (n.*3484C>A)
c.12380C>A (p.Pro4127His)
c.12413C>A (p.Pro4138His)
c.4569C>A
c.12392C>A (p.Pro4131His)
c.2445C>A
c.12344C>A (p.Pro4115His)
n.3587C>A
c.12446C>A (p.Pro4149His)
c.12443C>A (p.Pro4148His)
c.12422C>A (p.Pro4141His)
c.12416C>A (p.Pro4139His)
c.12410C>A (p.Pro4137His)
c.12386C>A (p.Pro4129His)
c.12209C>A (p.Pro4070His)
c.12353C>A (p.Pro4118His)
c.12425C>A (p.Pro4142His)
 dbSNP
1g.237784104C=CA2487482385RYR2c.*3484C= (n.*3484C=)
c.12380C= (p.Pro4127=)
c.12413C= (p.Pro4138=)
c.4569C=
c.12392C= (p.Pro4131=)
c.2445C=
c.12344C= (p.Pro4115=)
n.3587C=
c.12446C= (p.Pro4149=)
c.12443C= (p.Pro4148=)
c.12422C= (p.Pro4141=)
c.12416C= (p.Pro4139=)
c.12410C= (p.Pro4137=)
c.12386C= (p.Pro4129=)
c.12209C= (p.Pro4070=)
c.12353C= (p.Pro4118=)
c.12425C= (p.Pro4142=)
1g.237784104C>GCA345413120RYR2c.*3484C>G (n.*3484C>G)
c.12380C>G (p.Pro4127Arg)
c.12413C>G (p.Pro4138Arg)
c.4569C>G
c.12392C>G (p.Pro4131Arg)
c.2445C>G
c.12344C>G (p.Pro4115Arg)
n.3587C>G
c.12446C>G (p.Pro4149Arg)
c.12443C>G (p.Pro4148Arg)
c.12422C>G (p.Pro4141Arg)
c.12416C>G (p.Pro4139Arg)
c.12410C>G (p.Pro4137Arg)
c.12386C>G (p.Pro4129Arg)
c.12209C>G (p.Pro4070Arg)
c.12353C>G (p.Pro4118Arg)
c.12425C>G (p.Pro4142Arg)
1g.237784104C>TCA345413121RYR2c.*3484C>T (n.*3484C>T)
c.12380C>T (p.Pro4127Leu)
c.12413C>T (p.Pro4138Leu)
c.4569C>T
c.12392C>T (p.Pro4131Leu)
c.2445C>T
c.12344C>T (p.Pro4115Leu)
n.3587C>T
c.12446C>T (p.Pro4149Leu)
c.12443C>T (p.Pro4148Leu)
c.12422C>T (p.Pro4141Leu)
c.12416C>T (p.Pro4139Leu)
c.12410C>T (p.Pro4137Leu)
c.12386C>T (p.Pro4129Leu)
c.12209C>T (p.Pro4070Leu)
c.12353C>T (p.Pro4118Leu)
c.12425C>T (p.Pro4142Leu)
 ClinVar dbSNP
1g.237784105C>ACA424032115RYR2c.*3485C>A (n.*3485C>A)
c.12381C>A (p.Pro4127=)
c.12414C>A (p.Pro4138=)
c.4570C>A
c.12393C>A (p.Pro4131=)
c.2446C>A
c.12345C>A (p.Pro4115=)
n.3588C>A
c.12447C>A (p.Pro4149=)
c.12444C>A (p.Pro4148=)
c.12423C>A (p.Pro4141=)
c.12417C>A (p.Pro4139=)
c.12411C>A (p.Pro4137=)
c.12387C>A (p.Pro4129=)
c.12210C>A (p.Pro4070=)
c.12354C>A (p.Pro4118=)
c.12426C>A (p.Pro4142=)
1g.237784105C=CA2487482386RYR2c.*3485C= (n.*3485C=)
c.12381C= (p.Pro4127=)
c.12414C= (p.Pro4138=)
c.4570C=
c.12393C= (p.Pro4131=)
c.2446C=
c.12345C= (p.Pro4115=)
n.3588C=
c.12447C= (p.Pro4149=)
c.12444C= (p.Pro4148=)
c.12423C= (p.Pro4141=)
c.12417C= (p.Pro4139=)
c.12411C= (p.Pro4137=)
c.12387C= (p.Pro4129=)
c.12210C= (p.Pro4070=)
c.12354C= (p.Pro4118=)
c.12426C= (p.Pro4142=)
1g.237784105C>GCA424032116RYR2c.*3485C>G (n.*3485C>G)
c.12381C>G (p.Pro4127=)
c.12414C>G (p.Pro4138=)
c.4570C>G
c.12393C>G (p.Pro4131=)
c.2446C>G
c.12345C>G (p.Pro4115=)
n.3588C>G
c.12447C>G (p.Pro4149=)
c.12444C>G (p.Pro4148=)
c.12423C>G (p.Pro4141=)
c.12417C>G (p.Pro4139=)
c.12411C>G (p.Pro4137=)
c.12387C>G (p.Pro4129=)
c.12210C>G (p.Pro4070=)
c.12354C>G (p.Pro4118=)
c.12426C>G (p.Pro4142=)
 dbSNP
1g.237784105C>TCA424032117RYR2c.*3485C>T (n.*3485C>T)
c.12381C>T (p.Pro4127=)
c.12414C>T (p.Pro4138=)
c.4570C>T
c.12393C>T (p.Pro4131=)
c.2446C>T
c.12345C>T (p.Pro4115=)
n.3588C>T
c.12447C>T (p.Pro4149=)
c.12444C>T (p.Pro4148=)
c.12423C>T (p.Pro4141=)
c.12417C>T (p.Pro4139=)
c.12411C>T (p.Pro4137=)
c.12387C>T (p.Pro4129=)
c.12210C>T (p.Pro4070=)
c.12354C>T (p.Pro4118=)
c.12426C>T (p.Pro4142=)
1g.237784106T>ACA345413124RYR2c.*3486T>A (n.*3486T>A)
c.12382T>A (p.Phe4128Ile)
c.12415T>A (p.Phe4139Ile)
c.4571T>A
c.12394T>A (p.Phe4132Ile)
c.2447T>A
c.12346T>A (p.Phe4116Ile)
n.3589T>A
c.12448T>A (p.Phe4150Ile)
c.12445T>A (p.Phe4149Ile)
c.12424T>A (p.Phe4142Ile)
c.12418T>A (p.Phe4140Ile)
c.12412T>A (p.Phe4138Ile)
c.12388T>A (p.Phe4130Ile)
c.12211T>A (p.Phe4071Ile)
c.12355T>A (p.Phe4119Ile)
c.12427T>A (p.Phe4143Ile)
1g.237784106T>CCA345413123RYR2c.*3486T>C (n.*3486T>C)
c.12382T>C (p.Phe4128Leu)
c.12415T>C (p.Phe4139Leu)
c.4571T>C
c.12394T>C (p.Phe4132Leu)
c.2447T>C
c.12346T>C (p.Phe4116Leu)
n.3589T>C
c.12448T>C (p.Phe4150Leu)
c.12445T>C (p.Phe4149Leu)
c.12424T>C (p.Phe4142Leu)
c.12418T>C (p.Phe4140Leu)
c.12412T>C (p.Phe4138Leu)
c.12388T>C (p.Phe4130Leu)
c.12211T>C (p.Phe4071Leu)
c.12355T>C (p.Phe4119Leu)
c.12427T>C (p.Phe4143Leu)
1g.237784106T>GCA345413122RYR2c.*3486T>G (n.*3486T>G)
c.12382T>G (p.Phe4128Val)
c.12415T>G (p.Phe4139Val)
c.4571T>G
c.12394T>G (p.Phe4132Val)
c.2447T>G
c.12346T>G (p.Phe4116Val)
n.3589T>G
c.12448T>G (p.Phe4150Val)
c.12445T>G (p.Phe4149Val)
c.12424T>G (p.Phe4142Val)
c.12418T>G (p.Phe4140Val)
c.12412T>G (p.Phe4138Val)
c.12388T>G (p.Phe4130Val)
c.12211T>G (p.Phe4071Val)
c.12355T>G (p.Phe4119Val)
c.12427T>G (p.Phe4143Val)
1g.237784107T>ACA345413125RYR2c.*3487T>A (n.*3487T>A)
c.12383T>A (p.Phe4128Tyr)
c.12416T>A (p.Phe4139Tyr)
c.4572T>A
c.12395T>A (p.Phe4132Tyr)
c.2448T>A
c.12347T>A (p.Phe4116Tyr)
n.3590T>A
c.12449T>A (p.Phe4150Tyr)
c.12446T>A (p.Phe4149Tyr)
c.12425T>A (p.Phe4142Tyr)
c.12419T>A (p.Phe4140Tyr)
c.12413T>A (p.Phe4138Tyr)
c.12389T>A (p.Phe4130Tyr)
c.12212T>A (p.Phe4071Tyr)
c.12356T>A (p.Phe4119Tyr)
c.12428T>A (p.Phe4143Tyr)
 dbSNP gnomAD v4
1g.237784107T>CCA345413126RYR2c.*3487T>C (n.*3487T>C)
c.12383T>C (p.Phe4128Ser)
c.12416T>C (p.Phe4139Ser)
c.4572T>C
c.12395T>C (p.Phe4132Ser)
c.2448T>C
c.12347T>C (p.Phe4116Ser)
n.3590T>C
c.12449T>C (p.Phe4150Ser)
c.12446T>C (p.Phe4149Ser)
c.12425T>C (p.Phe4142Ser)
c.12419T>C (p.Phe4140Ser)
c.12413T>C (p.Phe4138Ser)
c.12389T>C (p.Phe4130Ser)
c.12212T>C (p.Phe4071Ser)
c.12356T>C (p.Phe4119Ser)
c.12428T>C (p.Phe4143Ser)
1g.237784107T>GCA345413127RYR2c.*3487T>G (n.*3487T>G)
c.12383T>G (p.Phe4128Cys)
c.12416T>G (p.Phe4139Cys)
c.4572T>G
c.12395T>G (p.Phe4132Cys)
c.2448T>G
c.12347T>G (p.Phe4116Cys)
n.3590T>G
c.12449T>G (p.Phe4150Cys)
c.12446T>G (p.Phe4149Cys)
c.12425T>G (p.Phe4142Cys)
c.12419T>G (p.Phe4140Cys)
c.12413T>G (p.Phe4138Cys)
c.12389T>G (p.Phe4130Cys)
c.12212T>G (p.Phe4071Cys)
c.12356T>G (p.Phe4119Cys)
c.12428T>G (p.Phe4143Cys)
1g.237784107T=CA2487482387RYR2c.*3487T= (n.*3487T=)
c.12383T= (p.Phe4128=)
c.12416T= (p.Phe4139=)
c.4572T=
c.12395T= (p.Phe4132=)
c.2448T=
c.12347T= (p.Phe4116=)
n.3590T=
c.12449T= (p.Phe4150=)
c.12446T= (p.Phe4149=)
c.12425T= (p.Phe4142=)
c.12419T= (p.Phe4140=)
c.12413T= (p.Phe4138=)
c.12389T= (p.Phe4130=)
c.12212T= (p.Phe4071=)
c.12356T= (p.Phe4119=)
c.12428T= (p.Phe4143=)
1g.237784108T>ACA345413128RYR2c.*3488T>A (n.*3488T>A)
c.12384T>A (p.Phe4128Leu)
c.12417T>A (p.Phe4139Leu)
c.4573T>A
c.12396T>A (p.Phe4132Leu)
c.2449T>A
c.12348T>A (p.Phe4116Leu)
n.3591T>A
c.12450T>A (p.Phe4150Leu)
c.12447T>A (p.Phe4149Leu)
c.12426T>A (p.Phe4142Leu)
c.12420T>A (p.Phe4140Leu)
c.12414T>A (p.Phe4138Leu)
c.12390T>A (p.Phe4130Leu)
c.12213T>A (p.Phe4071Leu)
c.12357T>A (p.Phe4119Leu)
c.12429T>A (p.Phe4143Leu)
 gnomAD v4
1g.237784108T>CCA424032123RYR2c.*3488T>C (n.*3488T>C)
c.12384T>C (p.Phe4128=)
c.12417T>C (p.Phe4139=)
c.4573T>C
c.12396T>C (p.Phe4132=)
c.2449T>C
c.12348T>C (p.Phe4116=)
n.3591T>C
c.12450T>C (p.Phe4150=)
c.12447T>C (p.Phe4149=)
c.12426T>C (p.Phe4142=)
c.12420T>C (p.Phe4140=)
c.12414T>C (p.Phe4138=)
c.12390T>C (p.Phe4130=)
c.12213T>C (p.Phe4071=)
c.12357T>C (p.Phe4119=)
c.12429T>C (p.Phe4143=)
1g.237784108T>GCA345413129RYR2c.*3488T>G (n.*3488T>G)
c.12384T>G (p.Phe4128Leu)
c.12417T>G (p.Phe4139Leu)
c.4573T>G
c.12396T>G (p.Phe4132Leu)
c.2449T>G
c.12348T>G (p.Phe4116Leu)
n.3591T>G
c.12450T>G (p.Phe4150Leu)
c.12447T>G (p.Phe4149Leu)
c.12426T>G (p.Phe4142Leu)
c.12420T>G (p.Phe4140Leu)
c.12414T>G (p.Phe4138Leu)
c.12390T>G (p.Phe4130Leu)
c.12213T>G (p.Phe4071Leu)
c.12357T>G (p.Phe4119Leu)
c.12429T>G (p.Phe4143Leu)
1g.237784109C>ACA345413130RYR2c.*3489C>A (n.*3489C>A)
c.12385C>A (p.Leu4129Met)
c.12418C>A (p.Leu4140Met)
c.4574C>A
c.12397C>A (p.Leu4133Met)
c.2450C>A
c.12349C>A (p.Leu4117Met)
n.3592C>A
c.12451C>A (p.Leu4151Met)
c.12448C>A (p.Leu4150Met)
c.12427C>A (p.Leu4143Met)
c.12421C>A (p.Leu4141Met)
c.12415C>A (p.Leu4139Met)
c.12391C>A (p.Leu4131Met)
c.12214C>A (p.Leu4072Met)
c.12358C>A (p.Leu4120Met)
c.12430C>A (p.Leu4144Met)
 gnomAD v4
1g.237784109C=CA2487482388RYR2c.*3489C= (n.*3489C=)
c.12385C= (p.Leu4129=)
c.12418C= (p.Leu4140=)
c.4574C=
c.12397C= (p.Leu4133=)
c.2450C=
c.12349C= (p.Leu4117=)
n.3592C=
c.12451C= (p.Leu4151=)
c.12448C= (p.Leu4150=)
c.12427C= (p.Leu4143=)
c.12421C= (p.Leu4141=)
c.12415C= (p.Leu4139=)
c.12391C= (p.Leu4131=)
c.12214C= (p.Leu4072=)
c.12358C= (p.Leu4120=)
c.12430C= (p.Leu4144=)
1g.237784109C>GCA345413131RYR2c.*3489C>G (n.*3489C>G)
c.12385C>G (p.Leu4129Val)
c.12418C>G (p.Leu4140Val)
c.4574C>G
c.12397C>G (p.Leu4133Val)
c.2450C>G
c.12349C>G (p.Leu4117Val)
n.3592C>G
c.12451C>G (p.Leu4151Val)
c.12448C>G (p.Leu4150Val)
c.12427C>G (p.Leu4143Val)
c.12421C>G (p.Leu4141Val)
c.12415C>G (p.Leu4139Val)
c.12391C>G (p.Leu4131Val)
c.12214C>G (p.Leu4072Val)
c.12358C>G (p.Leu4120Val)
c.12430C>G (p.Leu4144Val)
1g.237784109C>TCA424032125RYR2c.*3489C>T (n.*3489C>T)
c.12385C>T (p.Leu4129=)
c.12418C>T (p.Leu4140=)
c.4574C>T
c.12397C>T (p.Leu4133=)
c.2450C>T
c.12349C>T (p.Leu4117=)
n.3592C>T
c.12451C>T (p.Leu4151=)
c.12448C>T (p.Leu4150=)
c.12427C>T (p.Leu4143=)
c.12421C>T (p.Leu4141=)
c.12415C>T (p.Leu4139=)
c.12391C>T (p.Leu4131=)
c.12214C>T (p.Leu4072=)
c.12358C>T (p.Leu4120=)
c.12430C>T (p.Leu4144=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.237784110T>ACA345413132RYR2c.*3490T>A (n.*3490T>A)
c.12386T>A (p.Leu4129Gln)
c.12419T>A (p.Leu4140Gln)
c.4575T>A
c.12398T>A (p.Leu4133Gln)
c.2451T>A
c.12350T>A (p.Leu4117Gln)
n.3593T>A
c.12452T>A (p.Leu4151Gln)
c.12449T>A (p.Leu4150Gln)
c.12428T>A (p.Leu4143Gln)
c.12422T>A (p.Leu4141Gln)
c.12416T>A (p.Leu4139Gln)
c.12392T>A (p.Leu4131Gln)
c.12215T>A (p.Leu4072Gln)
c.12359T>A (p.Leu4120Gln)
c.12431T>A (p.Leu4144Gln)
 gnomAD v4
1g.237784110T>CCA345413134RYR2c.*3490T>C (n.*3490T>C)
c.12386T>C (p.Leu4129Pro)
c.12419T>C (p.Leu4140Pro)
c.4575T>C
c.12398T>C (p.Leu4133Pro)
c.2451T>C
c.12350T>C (p.Leu4117Pro)
n.3593T>C
c.12452T>C (p.Leu4151Pro)
c.12449T>C (p.Leu4150Pro)
c.12428T>C (p.Leu4143Pro)
c.12422T>C (p.Leu4141Pro)
c.12416T>C (p.Leu4139Pro)
c.12392T>C (p.Leu4131Pro)
c.12215T>C (p.Leu4072Pro)
c.12359T>C (p.Leu4120Pro)
c.12431T>C (p.Leu4144Pro)
1g.237784110T>GCA345413133RYR2c.*3490T>G (n.*3490T>G)
c.12386T>G (p.Leu4129Arg)
c.12419T>G (p.Leu4140Arg)
c.4575T>G
c.12398T>G (p.Leu4133Arg)
c.2451T>G
c.12350T>G (p.Leu4117Arg)
n.3593T>G
c.12452T>G (p.Leu4151Arg)
c.12449T>G (p.Leu4150Arg)
c.12428T>G (p.Leu4143Arg)
c.12422T>G (p.Leu4141Arg)
c.12416T>G (p.Leu4139Arg)
c.12392T>G (p.Leu4131Arg)
c.12215T>G (p.Leu4072Arg)
c.12359T>G (p.Leu4120Arg)
c.12431T>G (p.Leu4144Arg)
1g.237784111G>ACA424032129RYR2c.*3491G>A (n.*3491G>A)
c.12387G>A (p.Leu4129=)
c.12420G>A (p.Leu4140=)
c.4576G>A
c.12399G>A (p.Leu4133=)
c.2452G>A
c.12351G>A (p.Leu4117=)
n.3594G>A
c.12453G>A (p.Leu4151=)
c.12450G>A (p.Leu4150=)
c.12429G>A (p.Leu4143=)
c.12423G>A (p.Leu4141=)
c.12417G>A (p.Leu4139=)
c.12393G>A (p.Leu4131=)
c.12216G>A (p.Leu4072=)
c.12360G>A (p.Leu4120=)
c.12432G>A (p.Leu4144=)
1g.237784111G>CCA424032131RYR2c.*3491G>C (n.*3491G>C)
c.12387G>C (p.Leu4129=)
c.12420G>C (p.Leu4140=)
c.4576G>C
c.12399G>C (p.Leu4133=)
c.2452G>C
c.12351G>C (p.Leu4117=)
n.3594G>C
c.12453G>C (p.Leu4151=)
c.12450G>C (p.Leu4150=)
c.12429G>C (p.Leu4143=)
c.12423G>C (p.Leu4141=)
c.12417G>C (p.Leu4139=)
c.12393G>C (p.Leu4131=)
c.12216G>C (p.Leu4072=)
c.12360G>C (p.Leu4120=)
c.12432G>C (p.Leu4144=)
1g.237784111G>TCA424032132RYR2c.*3491G>T (n.*3491G>T)
c.12387G>T (p.Leu4129=)
c.12420G>T (p.Leu4140=)
c.4576G>T
c.12399G>T (p.Leu4133=)
c.2452G>T
c.12351G>T (p.Leu4117=)
n.3594G>T
c.12453G>T (p.Leu4151=)
c.12450G>T (p.Leu4150=)
c.12429G>T (p.Leu4143=)
c.12423G>T (p.Leu4141=)
c.12417G>T (p.Leu4139=)
c.12393G>T (p.Leu4131=)
c.12216G>T (p.Leu4072=)
c.12360G>T (p.Leu4120=)
c.12432G>T (p.Leu4144=)
 COSMIC
1g.237784112G>ACA345413135RYR2c.*3492G>A (n.*3492G>A)
c.12388G>A (p.Gly4130Ser)
c.12421G>A (p.Gly4141Ser)
c.4577G>A
c.12400G>A (p.Gly4134Ser)
c.2453G>A
c.12352G>A (p.Gly4118Ser)
n.3595G>A
c.12454G>A (p.Gly4152Ser)
c.12451G>A (p.Gly4151Ser)
c.12430G>A (p.Gly4144Ser)
c.12424G>A (p.Gly4142Ser)
c.12418G>A (p.Gly4140Ser)
c.12394G>A (p.Gly4132Ser)
c.12217G>A (p.Gly4073Ser)
c.12361G>A (p.Gly4121Ser)
c.12433G>A (p.Gly4145Ser)
1g.237784112G>CCA345413136RYR2c.*3492G>C (n.*3492G>C)
c.12388G>C (p.Gly4130Arg)
c.12421G>C (p.Gly4141Arg)
c.4577G>C
c.12400G>C (p.Gly4134Arg)
c.2453G>C
c.12352G>C (p.Gly4118Arg)
n.3595G>C
c.12454G>C (p.Gly4152Arg)
c.12451G>C (p.Gly4151Arg)
c.12430G>C (p.Gly4144Arg)
c.12424G>C (p.Gly4142Arg)
c.12418G>C (p.Gly4140Arg)
c.12394G>C (p.Gly4132Arg)
c.12217G>C (p.Gly4073Arg)
c.12361G>C (p.Gly4121Arg)
c.12433G>C (p.Gly4145Arg)
1g.237784112G>TCA345413137RYR2c.*3492G>T (n.*3492G>T)
c.12388G>T (p.Gly4130Cys)
c.12421G>T (p.Gly4141Cys)
c.4577G>T
c.12400G>T (p.Gly4134Cys)
c.2453G>T
c.12352G>T (p.Gly4118Cys)
n.3595G>T
c.12454G>T (p.Gly4152Cys)
c.12451G>T (p.Gly4151Cys)
c.12430G>T (p.Gly4144Cys)
c.12424G>T (p.Gly4142Cys)
c.12418G>T (p.Gly4140Cys)
c.12394G>T (p.Gly4132Cys)
c.12217G>T (p.Gly4073Cys)
c.12361G>T (p.Gly4121Cys)
c.12433G>T (p.Gly4145Cys)
 COSMIC COSMIC
1g.237784113G>ACA345413138RYR2c.*3493G>A (n.*3493G>A)
c.12389G>A (p.Gly4130Asp)
c.12422G>A (p.Gly4141Asp)
c.4578G>A
c.12401G>A (p.Gly4134Asp)
c.2454G>A
c.12353G>A (p.Gly4118Asp)
n.3596G>A
c.12455G>A (p.Gly4152Asp)
c.12452G>A (p.Gly4151Asp)
c.12431G>A (p.Gly4144Asp)
c.12425G>A (p.Gly4142Asp)
c.12419G>A (p.Gly4140Asp)
c.12395G>A (p.Gly4132Asp)
c.12218G>A (p.Gly4073Asp)
c.12362G>A (p.Gly4121Asp)
c.12434G>A (p.Gly4145Asp)
 dbSNP
1g.237784113G>CCA345413139RYR2c.*3493G>C (n.*3493G>C)
c.12389G>C (p.Gly4130Ala)
c.12422G>C (p.Gly4141Ala)
c.4578G>C
c.12401G>C (p.Gly4134Ala)
c.2454G>C
c.12353G>C (p.Gly4118Ala)
n.3596G>C
c.12455G>C (p.Gly4152Ala)
c.12452G>C (p.Gly4151Ala)
c.12431G>C (p.Gly4144Ala)
c.12425G>C (p.Gly4142Ala)
c.12419G>C (p.Gly4140Ala)
c.12395G>C (p.Gly4132Ala)
c.12218G>C (p.Gly4073Ala)
c.12362G>C (p.Gly4121Ala)
c.12434G>C (p.Gly4145Ala)
 ClinVar dbSNP
1g.237784113G=CA2487482389RYR2c.*3493G= (n.*3493G=)
c.12389G= (p.Gly4130=)
c.12422G= (p.Gly4141=)
c.4578G=
c.12401G= (p.Gly4134=)
c.2454G=
c.12353G= (p.Gly4118=)
n.3596G=
c.12455G= (p.Gly4152=)
c.12452G= (p.Gly4151=)
c.12431G= (p.Gly4144=)
c.12425G= (p.Gly4142=)
c.12419G= (p.Gly4140=)
c.12395G= (p.Gly4132=)
c.12218G= (p.Gly4073=)
c.12362G= (p.Gly4121=)
c.12434G= (p.Gly4145=)
1g.237784113G>TCA345413140RYR2c.*3493G>T (n.*3493G>T)
c.12389G>T (p.Gly4130Val)
c.12422G>T (p.Gly4141Val)
c.4578G>T
c.12401G>T (p.Gly4134Val)
c.2454G>T
c.12353G>T (p.Gly4118Val)
n.3596G>T
c.12455G>T (p.Gly4152Val)
c.12452G>T (p.Gly4151Val)
c.12431G>T (p.Gly4144Val)
c.12425G>T (p.Gly4142Val)
c.12419G>T (p.Gly4140Val)
c.12395G>T (p.Gly4132Val)
c.12218G>T (p.Gly4073Val)
c.12362G>T (p.Gly4121Val)
c.12434G>T (p.Gly4145Val)
 ClinVar dbSNP
1g.237784114C>ACA424032137RYR2c.*3494C>A (n.*3494C>A)
c.12390C>A (p.Gly4130=)
c.12423C>A (p.Gly4141=)
c.4579C>A
c.12402C>A (p.Gly4134=)
c.2455C>A
c.12354C>A (p.Gly4118=)
n.3597C>A
c.12456C>A (p.Gly4152=)
c.12453C>A (p.Gly4151=)
c.12432C>A (p.Gly4144=)
c.12426C>A (p.Gly4142=)
c.12420C>A (p.Gly4140=)
c.12396C>A (p.Gly4132=)
c.12219C>A (p.Gly4073=)
c.12363C>A (p.Gly4121=)
c.12435C>A (p.Gly4145=)
 ClinVar dbSNP
1g.237784114C>GCA424032139RYR2c.*3494C>G (n.*3494C>G)
c.12390C>G (p.Gly4130=)
c.12423C>G (p.Gly4141=)
c.4579C>G
c.12402C>G (p.Gly4134=)
c.2455C>G
c.12354C>G (p.Gly4118=)
n.3597C>G
c.12456C>G (p.Gly4152=)
c.12453C>G (p.Gly4151=)
c.12432C>G (p.Gly4144=)
c.12426C>G (p.Gly4142=)
c.12420C>G (p.Gly4140=)
c.12396C>G (p.Gly4132=)
c.12219C>G (p.Gly4073=)
c.12363C>G (p.Gly4121=)
c.12435C>G (p.Gly4145=)
1g.237784114C>TCA424032142RYR2c.*3494C>T (n.*3494C>T)
c.12390C>T (p.Gly4130=)
c.12423C>T (p.Gly4141=)
c.4579C>T
c.12402C>T (p.Gly4134=)
c.2455C>T
c.12354C>T (p.Gly4118=)
n.3597C>T
c.12456C>T (p.Gly4152=)
c.12453C>T (p.Gly4151=)
c.12432C>T (p.Gly4144=)
c.12426C>T (p.Gly4142=)
c.12420C>T (p.Gly4140=)
c.12396C>T (p.Gly4132=)
c.12219C>T (p.Gly4073=)
c.12363C>T (p.Gly4121=)
c.12435C>T (p.Gly4145=)
1g.237784115C>ACA345413141RYR2c.*3495C>A (n.*3495C>A)
c.12391C>A (p.Arg4131Ser)
c.12424C>A (p.Arg4142Ser)
c.4580C>A
c.12403C>A (p.Arg4135Ser)
c.2456C>A
c.12355C>A (p.Arg4119Ser)
n.3598C>A
c.12457C>A (p.Arg4153Ser)
c.12454C>A (p.Arg4152Ser)
c.12433C>A (p.Arg4145Ser)
c.12427C>A (p.Arg4143Ser)
c.12421C>A (p.Arg4141Ser)
c.12397C>A (p.Arg4133Ser)
c.12220C>A (p.Arg4074Ser)
c.12364C>A (p.Arg4122Ser)
c.12436C>A (p.Arg4146Ser)
1g.237784115C=CA2487482390RYR2c.*3495C= (n.*3495C=)
c.12391C= (p.Arg4131=)
c.12424C= (p.Arg4142=)
c.4580C=
c.12403C= (p.Arg4135=)
c.2456C=
c.12355C= (p.Arg4119=)
n.3598C=
c.12457C= (p.Arg4153=)
c.12454C= (p.Arg4152=)
c.12433C= (p.Arg4145=)
c.12427C= (p.Arg4143=)
c.12421C= (p.Arg4141=)
c.12397C= (p.Arg4133=)
c.12220C= (p.Arg4074=)
c.12364C= (p.Arg4122=)
c.12436C= (p.Arg4146=)
1g.237784115C>GCA345413142RYR2c.*3495C>G (n.*3495C>G)
c.12391C>G (p.Arg4131Gly)
c.12424C>G (p.Arg4142Gly)
c.4580C>G
c.12403C>G (p.Arg4135Gly)
c.2456C>G
c.12355C>G (p.Arg4119Gly)
n.3598C>G
c.12457C>G (p.Arg4153Gly)
c.12454C>G (p.Arg4152Gly)
c.12433C>G (p.Arg4145Gly)
c.12427C>G (p.Arg4143Gly)
c.12421C>G (p.Arg4141Gly)
c.12397C>G (p.Arg4133Gly)
c.12220C>G (p.Arg4074Gly)
c.12364C>G (p.Arg4122Gly)
c.12436C>G (p.Arg4146Gly)
1g.237784115C>TCA085178RYR2c.*3495C>T (n.*3495C>T)
c.12391C>T (p.Arg4131Cys)
c.12424C>T (p.Arg4142Cys)
c.4580C>T
c.12403C>T (p.Arg4135Cys)
c.2456C>T
c.12355C>T (p.Arg4119Cys)
n.3598C>T
c.12457C>T (p.Arg4153Cys)
c.12454C>T (p.Arg4152Cys)
c.12433C>T (p.Arg4145Cys)
c.12427C>T (p.Arg4143Cys)
c.12421C>T (p.Arg4141Cys)
c.12397C>T (p.Arg4133Cys)
c.12220C>T (p.Arg4074Cys)
c.12364C>T (p.Arg4122Cys)
c.12436C>T (p.Arg4146Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784116G>ACA085179RYR2c.*3496G>A (n.*3496G>A)
c.12392G>A (p.Arg4131His)
c.12425G>A (p.Arg4142His)
c.4581G>A
c.12404G>A (p.Arg4135His)
c.2457G>A
c.12356G>A (p.Arg4119His)
n.3599G>A
c.12458G>A (p.Arg4153His)
c.12455G>A (p.Arg4152His)
c.12434G>A (p.Arg4145His)
c.12428G>A (p.Arg4143His)
c.12422G>A (p.Arg4141His)
c.12398G>A (p.Arg4133His)
c.12221G>A (p.Arg4074His)
c.12365G>A (p.Arg4122His)
c.12437G>A (p.Arg4146His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237784116G>CCA345413143RYR2c.*3496G>C (n.*3496G>C)
c.12392G>C (p.Arg4131Pro)
c.12425G>C (p.Arg4142Pro)
c.4581G>C
c.12404G>C (p.Arg4135Pro)
c.2457G>C
c.12356G>C (p.Arg4119Pro)
n.3599G>C
c.12458G>C (p.Arg4153Pro)
c.12455G>C (p.Arg4152Pro)
c.12434G>C (p.Arg4145Pro)
c.12428G>C (p.Arg4143Pro)
c.12422G>C (p.Arg4141Pro)
c.12398G>C (p.Arg4133Pro)
c.12221G>C (p.Arg4074Pro)
c.12365G>C (p.Arg4122Pro)
c.12437G>C (p.Arg4146Pro)
1g.237784116G=CA2487482391RYR2c.*3496G= (n.*3496G=)
c.12392G= (p.Arg4131=)
c.12425G= (p.Arg4142=)
c.4581G=
c.12404G= (p.Arg4135=)
c.2457G=
c.12356G= (p.Arg4119=)
n.3599G=
c.12458G= (p.Arg4153=)
c.12455G= (p.Arg4152=)
c.12434G= (p.Arg4145=)
c.12428G= (p.Arg4143=)
c.12422G= (p.Arg4141=)
c.12398G= (p.Arg4133=)
c.12221G= (p.Arg4074=)
c.12365G= (p.Arg4122=)
c.12437G= (p.Arg4146=)
1g.237784116G>TCA345413144RYR2c.*3496G>T (n.*3496G>T)
c.12392G>T (p.Arg4131Leu)
c.12425G>T (p.Arg4142Leu)
c.4581G>T
c.12404G>T (p.Arg4135Leu)
c.2457G>T
c.12356G>T (p.Arg4119Leu)
n.3599G>T
c.12458G>T (p.Arg4153Leu)
c.12455G>T (p.Arg4152Leu)
c.12434G>T (p.Arg4145Leu)
c.12428G>T (p.Arg4143Leu)
c.12422G>T (p.Arg4141Leu)
c.12398G>T (p.Arg4133Leu)
c.12221G>T (p.Arg4074Leu)
c.12365G>T (p.Arg4122Leu)
c.12437G>T (p.Arg4146Leu)
 ClinVar dbSNP COSMIC
1g.237784117C>ACA424032145RYR2c.*3497C>A (n.*3497C>A)
c.12393C>A (p.Arg4131=)
c.12426C>A (p.Arg4142=)
c.4582C>A
c.12405C>A (p.Arg4135=)
c.2458C>A
c.12357C>A (p.Arg4119=)
n.3600C>A
c.12459C>A (p.Arg4153=)
c.12456C>A (p.Arg4152=)
c.12435C>A (p.Arg4145=)
c.12429C>A (p.Arg4143=)
c.12423C>A (p.Arg4141=)
c.12399C>A (p.Arg4133=)
c.12222C>A (p.Arg4074=)
c.12366C>A (p.Arg4122=)
c.12438C>A (p.Arg4146=)
1g.237784117C>GCA424032147RYR2c.*3497C>G (n.*3497C>G)
c.12393C>G (p.Arg4131=)
c.12426C>G (p.Arg4142=)
c.4582C>G
c.12405C>G (p.Arg4135=)
c.2458C>G
c.12357C>G (p.Arg4119=)
n.3600C>G
c.12459C>G (p.Arg4153=)
c.12456C>G (p.Arg4152=)
c.12435C>G (p.Arg4145=)
c.12429C>G (p.Arg4143=)
c.12423C>G (p.Arg4141=)
c.12399C>G (p.Arg4133=)
c.12222C>G (p.Arg4074=)
c.12366C>G (p.Arg4122=)
c.12438C>G (p.Arg4146=)
1g.237784117C>TCA424032144RYR2c.*3497C>T (n.*3497C>T)
c.12393C>T (p.Arg4131=)
c.12426C>T (p.Arg4142=)
c.4582C>T
c.12405C>T (p.Arg4135=)
c.2458C>T
c.12357C>T (p.Arg4119=)
n.3600C>T
c.12459C>T (p.Arg4153=)
c.12456C>T (p.Arg4152=)
c.12435C>T (p.Arg4145=)
c.12429C>T (p.Arg4143=)
c.12423C>T (p.Arg4141=)
c.12399C>T (p.Arg4133=)
c.12222C>T (p.Arg4074=)
c.12366C>T (p.Arg4122=)
c.12438C>T (p.Arg4146=)
 ClinVar dbSNP gnomAD v4
1g.237784118A>CCA345413145RYR2c.*3498A>C (n.*3498A>C)
c.12394A>C (p.Ile4132Leu)
c.12427A>C (p.Ile4143Leu)
c.4583A>C
c.12406A>C (p.Ile4136Leu)
c.2459A>C
c.12358A>C (p.Ile4120Leu)
n.3601A>C
c.12460A>C (p.Ile4154Leu)
c.12457A>C (p.Ile4153Leu)
c.12436A>C (p.Ile4146Leu)
c.12430A>C (p.Ile4144Leu)
c.12424A>C (p.Ile4142Leu)
c.12400A>C (p.Ile4134Leu)
c.12223A>C (p.Ile4075Leu)
c.12367A>C (p.Ile4123Leu)
c.12439A>C (p.Ile4147Leu)
1g.237784118A>GCA345413147RYR2c.*3498A>G (n.*3498A>G)
c.12394A>G (p.Ile4132Val)
c.12427A>G (p.Ile4143Val)
c.4583A>G
c.12406A>G (p.Ile4136Val)
c.2459A>G
c.12358A>G (p.Ile4120Val)
n.3601A>G
c.12460A>G (p.Ile4154Val)
c.12457A>G (p.Ile4153Val)
c.12436A>G (p.Ile4146Val)
c.12430A>G (p.Ile4144Val)
c.12424A>G (p.Ile4142Val)
c.12400A>G (p.Ile4134Val)
c.12223A>G (p.Ile4075Val)
c.12367A>G (p.Ile4123Val)
c.12439A>G (p.Ile4147Val)
1g.237784118A>TCA345413146RYR2c.*3498A>T (n.*3498A>T)
c.12394A>T (p.Ile4132Phe)
c.12427A>T (p.Ile4143Phe)
c.4583A>T
c.12406A>T (p.Ile4136Phe)
c.2459A>T
c.12358A>T (p.Ile4120Phe)
n.3601A>T
c.12460A>T (p.Ile4154Phe)
c.12457A>T (p.Ile4153Phe)
c.12436A>T (p.Ile4146Phe)
c.12430A>T (p.Ile4144Phe)
c.12424A>T (p.Ile4142Phe)
c.12400A>T (p.Ile4134Phe)
c.12223A>T (p.Ile4075Phe)
c.12367A>T (p.Ile4123Phe)
c.12439A>T (p.Ile4147Phe)
1g.237784119T>ACA345413148RYR2c.*3499T>A (n.*3499T>A)
c.12395T>A (p.Ile4132Asn)
c.12428T>A (p.Ile4143Asn)
c.4584T>A
c.12407T>A (p.Ile4136Asn)
c.2460T>A
c.12359T>A (p.Ile4120Asn)
n.3602T>A
c.12461T>A (p.Ile4154Asn)
c.12458T>A (p.Ile4153Asn)
c.12437T>A (p.Ile4146Asn)
c.12431T>A (p.Ile4144Asn)
c.12425T>A (p.Ile4142Asn)
c.12401T>A (p.Ile4134Asn)
c.12224T>A (p.Ile4075Asn)
c.12368T>A (p.Ile4123Asn)
c.12440T>A (p.Ile4147Asn)
1g.237784119T>CCA345413149RYR2c.*3499T>C (n.*3499T>C)
c.12395T>C (p.Ile4132Thr)
c.12428T>C (p.Ile4143Thr)
c.4584T>C
c.12407T>C (p.Ile4136Thr)
c.2460T>C
c.12359T>C (p.Ile4120Thr)
n.3602T>C
c.12461T>C (p.Ile4154Thr)
c.12458T>C (p.Ile4153Thr)
c.12437T>C (p.Ile4146Thr)
c.12431T>C (p.Ile4144Thr)
c.12425T>C (p.Ile4142Thr)
c.12401T>C (p.Ile4134Thr)
c.12224T>C (p.Ile4075Thr)
c.12368T>C (p.Ile4123Thr)
c.12440T>C (p.Ile4147Thr)
1g.237784119T>GCA345413150RYR2c.*3499T>G (n.*3499T>G)
c.12395T>G (p.Ile4132Ser)
c.12428T>G (p.Ile4143Ser)
c.4584T>G
c.12407T>G (p.Ile4136Ser)
c.2460T>G
c.12359T>G (p.Ile4120Ser)
n.3602T>G
c.12461T>G (p.Ile4154Ser)
c.12458T>G (p.Ile4153Ser)
c.12437T>G (p.Ile4146Ser)
c.12431T>G (p.Ile4144Ser)
c.12425T>G (p.Ile4142Ser)
c.12401T>G (p.Ile4134Ser)
c.12224T>G (p.Ile4075Ser)
c.12368T>G (p.Ile4123Ser)
c.12440T>G (p.Ile4147Ser)
1g.237784120C>ACA424032150RYR2c.*3500C>A (n.*3500C>A)
c.12396C>A (p.Ile4132=)
c.12429C>A (p.Ile4143=)
c.4585C>A
c.12408C>A (p.Ile4136=)
c.2461C>A
c.12360C>A (p.Ile4120=)
n.3603C>A
c.12462C>A (p.Ile4154=)
c.12459C>A (p.Ile4153=)
c.12438C>A (p.Ile4146=)
c.12432C>A (p.Ile4144=)
c.12426C>A (p.Ile4142=)
c.12402C>A (p.Ile4134=)
c.12225C>A (p.Ile4075=)
c.12369C>A (p.Ile4123=)
c.12441C>A (p.Ile4147=)
 dbSNP gnomAD v2 gnomAD v4
1g.237784120C=CA2487482392RYR2c.*3500C= (n.*3500C=)
c.12396C= (p.Ile4132=)
c.12429C= (p.Ile4143=)
c.4585C=
c.12408C= (p.Ile4136=)
c.2461C=
c.12360C= (p.Ile4120=)
n.3603C=
c.12462C= (p.Ile4154=)
c.12459C= (p.Ile4153=)
c.12438C= (p.Ile4146=)
c.12432C= (p.Ile4144=)
c.12426C= (p.Ile4142=)
c.12402C= (p.Ile4134=)
c.12225C= (p.Ile4075=)
c.12369C= (p.Ile4123=)
c.12441C= (p.Ile4147=)
1g.237784120C>GCA345413151RYR2c.*3500C>G (n.*3500C>G)
c.12396C>G (p.Ile4132Met)
c.12429C>G (p.Ile4143Met)
c.4585C>G
c.12408C>G (p.Ile4136Met)
c.2461C>G
c.12360C>G (p.Ile4120Met)
n.3603C>G
c.12462C>G (p.Ile4154Met)
c.12459C>G (p.Ile4153Met)
c.12438C>G (p.Ile4146Met)
c.12432C>G (p.Ile4144Met)
c.12426C>G (p.Ile4142Met)
c.12402C>G (p.Ile4134Met)
c.12225C>G (p.Ile4075Met)
c.12369C>G (p.Ile4123Met)
c.12441C>G (p.Ile4147Met)
 gnomAD v4
1g.237784120C>TCA424032149RYR2c.*3500C>T (n.*3500C>T)
c.12396C>T (p.Ile4132=)
c.12429C>T (p.Ile4143=)
c.4585C>T
c.12408C>T (p.Ile4136=)
c.2461C>T
c.12360C>T (p.Ile4120=)
n.3603C>T
c.12462C>T (p.Ile4154=)
c.12459C>T (p.Ile4153=)
c.12438C>T (p.Ile4146=)
c.12432C>T (p.Ile4144=)
c.12426C>T (p.Ile4142=)
c.12402C>T (p.Ile4134=)
c.12225C>T (p.Ile4075=)
c.12369C>T (p.Ile4123=)
c.12441C>T (p.Ile4147=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
1g.237784121G>ACA39827584RYR2c.*3501G>A (n.*3501G>A)
c.12397G>A (p.Glu4133Lys)
c.12430G>A (p.Glu4144Lys)
c.4586G>A
c.12409G>A (p.Glu4137Lys)
c.2462G>A
c.12361G>A (p.Glu4121Lys)
n.3604G>A
c.12463G>A (p.Glu4155Lys)
c.12460G>A (p.Glu4154Lys)
c.12439G>A (p.Glu4147Lys)
c.12433G>A (p.Glu4145Lys)
c.12427G>A (p.Glu4143Lys)
c.12403G>A (p.Glu4135Lys)
c.12226G>A (p.Glu4076Lys)
c.12370G>A (p.Glu4124Lys)
c.12442G>A (p.Glu4148Lys)
 dbSNP gnomAD v4 COSMIC COSMIC
1g.237784121G>CCA345413153RYR2c.*3501G>C (n.*3501G>C)
c.12397G>C (p.Glu4133Gln)
c.12430G>C (p.Glu4144Gln)
c.4586G>C
c.12409G>C (p.Glu4137Gln)
c.2462G>C
c.12361G>C (p.Glu4121Gln)
n.3604G>C
c.12463G>C (p.Glu4155Gln)
c.12460G>C (p.Glu4154Gln)
c.12439G>C (p.Glu4147Gln)
c.12433G>C (p.Glu4145Gln)
c.12427G>C (p.Glu4143Gln)
c.12403G>C (p.Glu4135Gln)
c.12226G>C (p.Glu4076Gln)
c.12370G>C (p.Glu4124Gln)
c.12442G>C (p.Glu4148Gln)
1g.237784121G=CA1143537613RYR2c.*3501G= (n.*3501G=)
c.12397G= (p.Glu4133=)
c.12430G= (p.Glu4144=)
c.4586G=
c.12409G= (p.Glu4137=)
c.2462G=
c.12361G= (p.Glu4121=)
n.3604G=
c.12463G= (p.Glu4155=)
c.12460G= (p.Glu4154=)
c.12439G= (p.Glu4147=)
c.12433G= (p.Glu4145=)
c.12427G= (p.Glu4143=)
c.12403G= (p.Glu4135=)
c.12226G= (p.Glu4076=)
c.12370G= (p.Glu4124=)
c.12442G= (p.Glu4148=)
1g.237784121G>TCA39827589RYR2c.*3501G>T (n.*3501G>T)
c.12397G>T (p.Glu4133Ter)
c.12430G>T (p.Glu4144Ter)
c.4586G>T
c.12409G>T (p.Glu4137Ter)
c.2462G>T
c.12361G>T (p.Glu4121Ter)
n.3604G>T
c.12463G>T (p.Glu4155Ter)
c.12460G>T (p.Glu4154Ter)
c.12439G>T (p.Glu4147Ter)
c.12433G>T (p.Glu4145Ter)
c.12427G>T (p.Glu4143Ter)
c.12403G>T (p.Glu4135Ter)
c.12226G>T (p.Glu4076Ter)
c.12370G>T (p.Glu4124Ter)
c.12442G>T (p.Glu4148Ter)
 dbSNP
1g.237784121dupCA2651213123RYR2c.*3501dup (n.*3501dup)
c.12397dup (p.Glu4133GlyfsTer15)
c.12430dup (p.Glu4144GlyfsTer15)
c.4586dup
c.12409dup (p.Glu4137GlyfsTer15)
c.2462dup
c.12361dup (p.Glu4121GlyfsTer15)
n.3604dup
c.12463dup (p.Glu4155GlyfsTer15)
c.12460dup (p.Glu4154GlyfsTer15)
c.12439dup (p.Glu4147GlyfsTer15)
c.12433dup (p.Glu4145GlyfsTer15)
c.12427dup (p.Glu4143GlyfsTer15)
c.12403dup (p.Glu4135GlyfsTer15)
c.12226dup (p.Glu4076GlyfsTer15)
c.12370dup (p.Glu4124GlyfsTer15)
c.12442dup (p.Glu4148GlyfsTer15)
 gnomAD v4
1g.237784122A>CCA345413154RYR2c.*3502A>C (n.*3502A>C)
c.12398A>C (p.Glu4133Ala)
c.12431A>C (p.Glu4144Ala)
c.4587A>C
c.12410A>C (p.Glu4137Ala)
c.2463A>C
c.12362A>C (p.Glu4121Ala)
n.3605A>C
c.12464A>C (p.Glu4155Ala)
c.12461A>C (p.Glu4154Ala)
c.12440A>C (p.Glu4147Ala)
c.12434A>C (p.Glu4145Ala)
c.12428A>C (p.Glu4143Ala)
c.12404A>C (p.Glu4135Ala)
c.12227A>C (p.Glu4076Ala)
c.12371A>C (p.Glu4124Ala)
c.12443A>C (p.Glu4148Ala)
1g.237784122A>GCA345413155RYR2c.*3502A>G (n.*3502A>G)
c.12398A>G (p.Glu4133Gly)
c.12431A>G (p.Glu4144Gly)
c.4587A>G
c.12410A>G (p.Glu4137Gly)
c.2463A>G
c.12362A>G (p.Glu4121Gly)
n.3605A>G
c.12464A>G (p.Glu4155Gly)
c.12461A>G (p.Glu4154Gly)
c.12440A>G (p.Glu4147Gly)
c.12434A>G (p.Glu4145Gly)
c.12428A>G (p.Glu4143Gly)
c.12404A>G (p.Glu4135Gly)
c.12227A>G (p.Glu4076Gly)
c.12371A>G (p.Glu4124Gly)
c.12443A>G (p.Glu4148Gly)
1g.237784122A>TCA345413157RYR2c.*3502A>T (n.*3502A>T)
c.12398A>T (p.Glu4133Val)
c.12431A>T (p.Glu4144Val)
c.4587A>T
c.12410A>T (p.Glu4137Val)
c.2463A>T
c.12362A>T (p.Glu4121Val)
n.3605A>T
c.12464A>T (p.Glu4155Val)
c.12461A>T (p.Glu4154Val)
c.12440A>T (p.Glu4147Val)
c.12434A>T (p.Glu4145Val)
c.12428A>T (p.Glu4143Val)
c.12404A>T (p.Glu4135Val)
c.12227A>T (p.Glu4076Val)
c.12371A>T (p.Glu4124Val)
c.12443A>T (p.Glu4148Val)
1g.237784123A>CCA345413158RYR2c.*3503A>C (n.*3503A>C)
c.12399A>C (p.Glu4133Asp)
c.12432A>C (p.Glu4144Asp)
c.4588A>C
c.12411A>C (p.Glu4137Asp)
c.2464A>C
c.12363A>C (p.Glu4121Asp)
n.3606A>C
c.12465A>C (p.Glu4155Asp)
c.12462A>C (p.Glu4154Asp)
c.12441A>C (p.Glu4147Asp)
c.12435A>C (p.Glu4145Asp)
c.12429A>C (p.Glu4143Asp)
c.12405A>C (p.Glu4135Asp)
c.12228A>C (p.Glu4076Asp)
c.12372A>C (p.Glu4124Asp)
c.12444A>C (p.Glu4148Asp)
1g.237784123A>GCA424032154RYR2c.*3503A>G (n.*3503A>G)
c.12399A>G (p.Glu4133=)
c.12432A>G (p.Glu4144=)
c.4588A>G
c.12411A>G (p.Glu4137=)
c.2464A>G
c.12363A>G (p.Glu4121=)
n.3606A>G
c.12465A>G (p.Glu4155=)
c.12462A>G (p.Glu4154=)
c.12441A>G (p.Glu4147=)
c.12435A>G (p.Glu4145=)
c.12429A>G (p.Glu4143=)
c.12405A>G (p.Glu4135=)
c.12228A>G (p.Glu4076=)
c.12372A>G (p.Glu4124=)
c.12444A>G (p.Glu4148=)
1g.237784123A>TCA345413159RYR2c.*3503A>T (n.*3503A>T)
c.12399A>T (p.Glu4133Asp)
c.12432A>T (p.Glu4144Asp)
c.4588A>T
c.12411A>T (p.Glu4137Asp)
c.2464A>T
c.12363A>T (p.Glu4121Asp)
n.3606A>T
c.12465A>T (p.Glu4155Asp)
c.12462A>T (p.Glu4154Asp)
c.12441A>T (p.Glu4147Asp)
c.12435A>T (p.Glu4145Asp)
c.12429A>T (p.Glu4143Asp)
c.12405A>T (p.Glu4135Asp)
c.12228A>T (p.Glu4076Asp)
c.12372A>T (p.Glu4124Asp)
c.12444A>T (p.Glu4148Asp)
1g.237784124A>CCA345413162RYR2c.*3504A>C (n.*3504A>C)
c.12400A>C (p.Ile4134Leu)
c.12433A>C (p.Ile4145Leu)
c.4589A>C
c.12412A>C (p.Ile4138Leu)
c.2465A>C
c.12364A>C (p.Ile4122Leu)
n.3607A>C
c.12466A>C (p.Ile4156Leu)
c.12463A>C (p.Ile4155Leu)
c.12442A>C (p.Ile4148Leu)
c.12436A>C (p.Ile4146Leu)
c.12430A>C (p.Ile4144Leu)
c.12406A>C (p.Ile4136Leu)
c.12229A>C (p.Ile4077Leu)
c.12373A>C (p.Ile4125Leu)
c.12445A>C (p.Ile4149Leu)
1g.237784124A>GCA345413163RYR2c.*3504A>G (n.*3504A>G)
c.12400A>G (p.Ile4134Val)
c.12433A>G (p.Ile4145Val)
c.4589A>G
c.12412A>G (p.Ile4138Val)
c.2465A>G
c.12364A>G (p.Ile4122Val)
n.3607A>G
c.12466A>G (p.Ile4156Val)
c.12463A>G (p.Ile4155Val)
c.12442A>G (p.Ile4148Val)
c.12436A>G (p.Ile4146Val)
c.12430A>G (p.Ile4144Val)
c.12406A>G (p.Ile4136Val)
c.12229A>G (p.Ile4077Val)
c.12373A>G (p.Ile4125Val)
c.12445A>G (p.Ile4149Val)
1g.237784124A>TCA345413161RYR2c.*3504A>T (n.*3504A>T)
c.12400A>T (p.Ile4134Phe)
c.12433A>T (p.Ile4145Phe)
c.4589A>T
c.12412A>T (p.Ile4138Phe)
c.2465A>T
c.12364A>T (p.Ile4122Phe)
n.3607A>T
c.12466A>T (p.Ile4156Phe)
c.12463A>T (p.Ile4155Phe)
c.12442A>T (p.Ile4148Phe)
c.12436A>T (p.Ile4146Phe)
c.12430A>T (p.Ile4144Phe)
c.12406A>T (p.Ile4136Phe)
c.12229A>T (p.Ile4077Phe)
c.12373A>T (p.Ile4125Phe)
c.12445A>T (p.Ile4149Phe)
1g.237784125T>ACA345413164RYR2c.*3505T>A (n.*3505T>A)
c.12401T>A (p.Ile4134Asn)
c.12434T>A (p.Ile4145Asn)
c.4590T>A
c.12413T>A (p.Ile4138Asn)
c.2466T>A
c.12365T>A (p.Ile4122Asn)
n.3608T>A
c.12467T>A (p.Ile4156Asn)
c.12464T>A (p.Ile4155Asn)
c.12443T>A (p.Ile4148Asn)
c.12437T>A (p.Ile4146Asn)
c.12431T>A (p.Ile4144Asn)
c.12407T>A (p.Ile4136Asn)
c.12230T>A (p.Ile4077Asn)
c.12374T>A (p.Ile4125Asn)
c.12446T>A (p.Ile4149Asn)
1g.237784125T>CCA345413166RYR2c.*3505T>C (n.*3505T>C)
c.12401T>C (p.Ile4134Thr)
c.12434T>C (p.Ile4145Thr)
c.4590T>C
c.12413T>C (p.Ile4138Thr)
c.2466T>C
c.12365T>C (p.Ile4122Thr)
n.3608T>C
c.12467T>C (p.Ile4156Thr)
c.12464T>C (p.Ile4155Thr)
c.12443T>C (p.Ile4148Thr)
c.12437T>C (p.Ile4146Thr)
c.12431T>C (p.Ile4144Thr)
c.12407T>C (p.Ile4136Thr)
c.12230T>C (p.Ile4077Thr)
c.12374T>C (p.Ile4125Thr)
c.12446T>C (p.Ile4149Thr)
1g.237784125T>GCA345413169RYR2c.*3505T>G (n.*3505T>G)
c.12401T>G (p.Ile4134Ser)
c.12434T>G (p.Ile4145Ser)
c.4590T>G
c.12413T>G (p.Ile4138Ser)
c.2466T>G
c.12365T>G (p.Ile4122Ser)
n.3608T>G
c.12467T>G (p.Ile4156Ser)
c.12464T>G (p.Ile4155Ser)
c.12443T>G (p.Ile4148Ser)
c.12437T>G (p.Ile4146Ser)
c.12431T>G (p.Ile4144Ser)
c.12407T>G (p.Ile4136Ser)
c.12230T>G (p.Ile4077Ser)
c.12374T>G (p.Ile4125Ser)
c.12446T>G (p.Ile4149Ser)
1g.237784126C>ACA424032155RYR2c.*3506C>A (n.*3506C>A)
c.12402C>A (p.Ile4134=)
c.12435C>A (p.Ile4145=)
c.4591C>A
c.12414C>A (p.Ile4138=)
c.2467C>A
c.12366C>A (p.Ile4122=)
n.3609C>A
c.12468C>A (p.Ile4156=)
c.12465C>A (p.Ile4155=)
c.12444C>A (p.Ile4148=)
c.12438C>A (p.Ile4146=)
c.12432C>A (p.Ile4144=)
c.12408C>A (p.Ile4136=)
c.12231C>A (p.Ile4077=)
c.12375C>A (p.Ile4125=)
c.12447C>A (p.Ile4149=)
1g.237784126C>GCA345413170RYR2c.*3506C>G (n.*3506C>G)
c.12402C>G (p.Ile4134Met)
c.12435C>G (p.Ile4145Met)
c.4591C>G
c.12414C>G (p.Ile4138Met)
c.2467C>G
c.12366C>G (p.Ile4122Met)
n.3609C>G
c.12468C>G (p.Ile4156Met)
c.12465C>G (p.Ile4155Met)
c.12444C>G (p.Ile4148Met)
c.12438C>G (p.Ile4146Met)
c.12432C>G (p.Ile4144Met)
c.12408C>G (p.Ile4136Met)
c.12231C>G (p.Ile4077Met)
c.12375C>G (p.Ile4125Met)
c.12447C>G (p.Ile4149Met)
1g.237784126C>TCA424032156RYR2c.*3506C>T (n.*3506C>T)
c.12402C>T (p.Ile4134=)
c.12435C>T (p.Ile4145=)
c.4591C>T
c.12414C>T (p.Ile4138=)
c.2467C>T
c.12366C>T (p.Ile4122=)
n.3609C>T
c.12468C>T (p.Ile4156=)
c.12465C>T (p.Ile4155=)
c.12444C>T (p.Ile4148=)
c.12438C>T (p.Ile4146=)
c.12432C>T (p.Ile4144=)
c.12408C>T (p.Ile4136=)
c.12231C>T (p.Ile4077=)
c.12375C>T (p.Ile4125=)
c.12447C>T (p.Ile4149=)
1g.237784127A=CA2487482393RYR2c.*3507A= (n.*3507A=)
c.12403A= (p.Met4135=)
c.12436A= (p.Met4146=)
c.4592A=
c.12415A= (p.Met4139=)
c.2468A=
c.12367A= (p.Met4123=)
n.3610A=
c.12469A= (p.Met4157=)
c.12466A= (p.Met4156=)
c.12445A= (p.Met4149=)
c.12439A= (p.Met4147=)
c.12433A= (p.Met4145=)
c.12409A= (p.Met4137=)
c.12232A= (p.Met4078=)
c.12376A= (p.Met4126=)
c.12448A= (p.Met4150=)
1g.237784127A>CCA345413175RYR2c.*3507A>C (n.*3507A>C)
c.12403A>C (p.Met4135Leu)
c.12436A>C (p.Met4146Leu)
c.4592A>C
c.12415A>C (p.Met4139Leu)
c.2468A>C
c.12367A>C (p.Met4123Leu)
n.3610A>C
c.12469A>C (p.Met4157Leu)
c.12466A>C (p.Met4156Leu)
c.12445A>C (p.Met4149Leu)
c.12439A>C (p.Met4147Leu)
c.12433A>C (p.Met4145Leu)
c.12409A>C (p.Met4137Leu)
c.12232A>C (p.Met4078Leu)
c.12376A>C (p.Met4126Leu)
c.12448A>C (p.Met4150Leu)
1g.237784127A>GCA345413174RYR2c.*3507A>G (n.*3507A>G)
c.12403A>G (p.Met4135Val)
c.12436A>G (p.Met4146Val)
c.4592A>G
c.12415A>G (p.Met4139Val)
c.2468A>G
c.12367A>G (p.Met4123Val)
n.3610A>G
c.12469A>G (p.Met4157Val)
c.12466A>G (p.Met4156Val)
c.12445A>G (p.Met4149Val)
c.12439A>G (p.Met4147Val)
c.12433A>G (p.Met4145Val)
c.12409A>G (p.Met4137Val)
c.12232A>G (p.Met4078Val)
c.12376A>G (p.Met4126Val)
c.12448A>G (p.Met4150Val)
 ClinVar dbSNP gnomAD v4
1g.237784127A>TCA345413171RYR2c.*3507A>T (n.*3507A>T)
c.12403A>T (p.Met4135Leu)
c.12436A>T (p.Met4146Leu)
c.4592A>T
c.12415A>T (p.Met4139Leu)
c.2468A>T
c.12367A>T (p.Met4123Leu)
n.3610A>T
c.12469A>T (p.Met4157Leu)
c.12466A>T (p.Met4156Leu)
c.12445A>T (p.Met4149Leu)
c.12439A>T (p.Met4147Leu)
c.12433A>T (p.Met4145Leu)
c.12409A>T (p.Met4137Leu)
c.12232A>T (p.Met4078Leu)
c.12376A>T (p.Met4126Leu)
c.12448A>T (p.Met4150Leu)
1g.237784128T>ACA345413177RYR2c.*3508T>A (n.*3508T>A)
c.12404T>A (p.Met4135Lys)
c.12437T>A (p.Met4146Lys)
c.4593T>A
c.12416T>A (p.Met4139Lys)
c.2469T>A
c.12368T>A (p.Met4123Lys)
n.3611T>A
c.12470T>A (p.Met4157Lys)
c.12467T>A (p.Met4156Lys)
c.12446T>A (p.Met4149Lys)
c.12440T>A (p.Met4147Lys)
c.12434T>A (p.Met4145Lys)
c.12410T>A (p.Met4137Lys)
c.12233T>A (p.Met4078Lys)
c.12377T>A (p.Met4126Lys)
c.12449T>A (p.Met4150Lys)
1g.237784128T>CCA085180RYR2c.*3508T>C (n.*3508T>C)
c.12404T>C (p.Met4135Thr)
c.12437T>C (p.Met4146Thr)
c.4593T>C
c.12416T>C (p.Met4139Thr)
c.2469T>C
c.12368T>C (p.Met4123Thr)
n.3611T>C
c.12470T>C (p.Met4157Thr)
c.12467T>C (p.Met4156Thr)
c.12446T>C (p.Met4149Thr)
c.12440T>C (p.Met4147Thr)
c.12434T>C (p.Met4145Thr)
c.12410T>C (p.Met4137Thr)
c.12233T>C (p.Met4078Thr)
c.12377T>C (p.Met4126Thr)
c.12449T>C (p.Met4150Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.237784128T>GCA345413179RYR2c.*3508T>G (n.*3508T>G)
c.12404T>G (p.Met4135Arg)
c.12437T>G (p.Met4146Arg)
c.4593T>G
c.12416T>G (p.Met4139Arg)
c.2469T>G
c.12368T>G (p.Met4123Arg)
n.3611T>G
c.12470T>G (p.Met4157Arg)
c.12467T>G (p.Met4156Arg)
c.12446T>G (p.Met4149Arg)
c.12440T>G (p.Met4147Arg)
c.12434T>G (p.Met4145Arg)
c.12410T>G (p.Met4137Arg)
c.12233T>G (p.Met4078Arg)
c.12377T>G (p.Met4126Arg)
c.12449T>G (p.Met4150Arg)
1g.237784128T=CA2487482394RYR2c.*3508T= (n.*3508T=)
c.12404T= (p.Met4135=)
c.12437T= (p.Met4146=)
c.4593T=
c.12416T= (p.Met4139=)
c.2469T=
c.12368T= (p.Met4123=)
n.3611T=
c.12470T= (p.Met4157=)
c.12467T= (p.Met4156=)
c.12446T= (p.Met4149=)
c.12440T= (p.Met4147=)
c.12434T= (p.Met4145=)
c.12410T= (p.Met4137=)
c.12233T= (p.Met4078=)
c.12377T= (p.Met4126=)
c.12449T= (p.Met4150=)
1g.237784129G>ACA345413181RYR2c.*3509G>A (n.*3509G>A)
c.12405G>A (p.Met4135Ile)
c.12438G>A (p.Met4146Ile)
c.4594G>A
c.12417G>A (p.Met4139Ile)
c.2470G>A
c.12369G>A (p.Met4123Ile)
n.3612G>A
c.12471G>A (p.Met4157Ile)
c.12468G>A (p.Met4156Ile)
c.12447G>A (p.Met4149Ile)
c.12441G>A (p.Met4147Ile)
c.12435G>A (p.Met4145Ile)
c.12411G>A (p.Met4137Ile)
c.12234G>A (p.Met4078Ile)
c.12378G>A (p.Met4126Ile)
c.12450G>A (p.Met4150Ile)
1g.237784129G>CCA345413183RYR2c.*3509G>C (n.*3509G>C)
c.12405G>C (p.Met4135Ile)
c.12438G>C (p.Met4146Ile)
c.4594G>C
c.12417G>C (p.Met4139Ile)
c.2470G>C
c.12369G>C (p.Met4123Ile)
n.3612G>C
c.12471G>C (p.Met4157Ile)
c.12468G>C (p.Met4156Ile)
c.12447G>C (p.Met4149Ile)
c.12441G>C (p.Met4147Ile)
c.12435G>C (p.Met4145Ile)
c.12411G>C (p.Met4137Ile)
c.12234G>C (p.Met4078Ile)
c.12378G>C (p.Met4126Ile)
c.12450G>C (p.Met4150Ile)
1g.237784129G>TCA345413185RYR2c.*3509G>T (n.*3509G>T)
c.12405G>T (p.Met4135Ile)
c.12438G>T (p.Met4146Ile)
c.4594G>T
c.12417G>T (p.Met4139Ile)
c.2470G>T
c.12369G>T (p.Met4123Ile)
n.3612G>T
c.12471G>T (p.Met4157Ile)
c.12468G>T (p.Met4156Ile)
c.12447G>T (p.Met4149Ile)
c.12441G>T (p.Met4147Ile)
c.12435G>T (p.Met4145Ile)
c.12411G>T (p.Met4137Ile)
c.12234G>T (p.Met4078Ile)
c.12378G>T (p.Met4126Ile)
c.12450G>T (p.Met4150Ile)
1g.237784131delCA2651213124RYR2c.*3511del (n.*3511del)
c.12407del (p.Gly4136GlufsTer?)
c.12440del (p.Gly4147GlufsTer?)
c.4596del
c.12419del (p.Gly4140GlufsTer?)
c.2472del
c.12371del (p.Gly4124GlufsTer?)
n.3614del
c.12473del (p.Gly4158GlufsTer?)
c.12470del (p.Gly4157GlufsTer?)
c.12449del (p.Gly4150GlufsTer?)
c.12443del (p.Gly4148GlufsTer?)
c.12437del (p.Gly4146GlufsTer?)
c.12413del (p.Gly4138GlufsTer?)
c.12236del (p.Gly4079GlufsTer?)
c.12380del (p.Gly4127GlufsTer?)
c.12452del (p.Gly4151GlufsTer?)
 gnomAD v4
1g.237784130G>ACA345413186RYR2c.*3510G>A (n.*3510G>A)
c.12406G>A (p.Gly4136Arg)
c.12439G>A (p.Gly4147Arg)
c.4595G>A
c.12418G>A (p.Gly4140Arg)
c.2471G>A
c.12370G>A (p.Gly4124Arg)
n.3613G>A
c.12472G>A (p.Gly4158Arg)
c.12469G>A (p.Gly4157Arg)
c.12448G>A (p.Gly4150Arg)
c.12442G>A (p.Gly4148Arg)
c.12436G>A (p.Gly4146Arg)
c.12412G>A (p.Gly4138Arg)
c.12235G>A (p.Gly4079Arg)
c.12379G>A (p.Gly4127Arg)
c.12451G>A (p.Gly4151Arg)
1g.237784130G>CCA345413190RYR2c.*3510G>C (n.*3510G>C)
c.12406G>C (p.Gly4136Arg)
c.12439G>C (p.Gly4147Arg)
c.4595G>C
c.12418G>C (p.Gly4140Arg)
c.2471G>C
c.12370G>C (p.Gly4124Arg)
n.3613G>C
c.12472G>C (p.Gly4158Arg)
c.12469G>C (p.Gly4157Arg)
c.12448G>C (p.Gly4150Arg)
c.12442G>C (p.Gly4148Arg)
c.12436G>C (p.Gly4146Arg)
c.12412G>C (p.Gly4138Arg)
c.12235G>C (p.Gly4079Arg)
c.12379G>C (p.Gly4127Arg)
c.12451G>C (p.Gly4151Arg)
1g.237784130G>TCA345413188RYR2c.*3510G>T (n.*3510G>T)
c.12406G>T (p.Gly4136Ter)
c.12439G>T (p.Gly4147Ter)
c.4595G>T
c.12418G>T (p.Gly4140Ter)
c.2471G>T
c.12370G>T (p.Gly4124Ter)
n.3613G>T
c.12472G>T (p.Gly4158Ter)
c.12469G>T (p.Gly4157Ter)
c.12448G>T (p.Gly4150Ter)
c.12442G>T (p.Gly4148Ter)
c.12436G>T (p.Gly4146Ter)
c.12412G>T (p.Gly4138Ter)
c.12235G>T (p.Gly4079Ter)
c.12379G>T (p.Gly4127Ter)
c.12451G>T (p.Gly4151Ter)
1g.237784131G>ACA345413192RYR2c.*3511G>A (n.*3511G>A)
c.12407G>A (p.Gly4136Glu)
c.12440G>A (p.Gly4147Glu)
c.4596G>A
c.12419G>A (p.Gly4140Glu)
c.2472G>A
c.12371G>A (p.Gly4124Glu)
n.3614G>A
c.12473G>A (p.Gly4158Glu)
c.12470G>A (p.Gly4157Glu)
c.12449G>A (p.Gly4150Glu)
c.12443G>A (p.Gly4148Glu)
c.12437G>A (p.Gly4146Glu)
c.12413G>A (p.Gly4138Glu)
c.12236G>A (p.Gly4079Glu)
c.12380G>A (p.Gly4127Glu)
c.12452G>A (p.Gly4151Glu)
1g.237784131G>CCA345413193RYR2c.*3511G>C (n.*3511G>C)
c.12407G>C (p.Gly4136Ala)
c.12440G>C (p.Gly4147Ala)
c.4596G>C
c.12419G>C (p.Gly4140Ala)
c.2472G>C
c.12371G>C (p.Gly4124Ala)
n.3614G>C
c.12473G>C (p.Gly4158Ala)
c.12470G>C (p.Gly4157Ala)
c.12449G>C (p.Gly4150Ala)
c.12443G>C (p.Gly4148Ala)
c.12437G>C (p.Gly4146Ala)
c.12413G>C (p.Gly4138Ala)
c.12236G>C (p.Gly4079Ala)
c.12380G>C (p.Gly4127Ala)
c.12452G>C (p.Gly4151Ala)
 ClinVar
1g.237784131G>TCA345413195RYR2c.*3511G>T (n.*3511G>T)
c.12407G>T (p.Gly4136Val)
c.12440G>T (p.Gly4147Val)
c.4596G>T
c.12419G>T (p.Gly4140Val)
c.2472G>T
c.12371G>T (p.Gly4124Val)
n.3614G>T
c.12473G>T (p.Gly4158Val)
c.12470G>T (p.Gly4157Val)
c.12449G>T (p.Gly4150Val)
c.12443G>T (p.Gly4148Val)
c.12437G>T (p.Gly4146Val)
c.12413G>T (p.Gly4138Val)
c.12236G>T (p.Gly4079Val)
c.12380G>T (p.Gly4127Val)
c.12452G>T (p.Gly4151Val)
1g.237784132A>CCA424032161RYR2c.*3512A>C (n.*3512A>C)
c.12408A>C (p.Gly4136=)
c.12441A>C (p.Gly4147=)
c.4597A>C
c.12420A>C (p.Gly4140=)
c.2473A>C
c.12372A>C (p.Gly4124=)
n.3615A>C
c.12474A>C (p.Gly4158=)
c.12471A>C (p.Gly4157=)
c.12450A>C (p.Gly4150=)
c.12444A>C (p.Gly4148=)
c.12438A>C (p.Gly4146=)
c.12414A>C (p.Gly4138=)
c.12237A>C (p.Gly4079=)
c.12381A>C (p.Gly4127=)
c.12453A>C (p.Gly4151=)
1g.237784132A>GCA424032162RYR2c.*3512A>G (n.*3512A>G)
c.12408A>G (p.Gly4136=)
c.12441A>G (p.Gly4147=)
c.4597A>G
c.12420A>G (p.Gly4140=)
c.2473A>G
c.12372A>G (p.Gly4124=)
n.3615A>G
c.12474A>G (p.Gly4158=)
c.12471A>G (p.Gly4157=)
c.12450A>G (p.Gly4150=)
c.12444A>G (p.Gly4148=)
c.12438A>G (p.Gly4146=)
c.12414A>G (p.Gly4138=)
c.12237A>G (p.Gly4079=)
c.12381A>G (p.Gly4127=)
c.12453A>G (p.Gly4151=)
1g.237784132A>TCA424032163RYR2c.*3512A>T (n.*3512A>T)
c.12408A>T (p.Gly4136=)
c.12441A>T (p.Gly4147=)
c.4597A>T
c.12420A>T (p.Gly4140=)
c.2473A>T
c.12372A>T (p.Gly4124=)
n.3615A>T
c.12474A>T (p.Gly4158=)
c.12471A>T (p.Gly4157=)
c.12450A>T (p.Gly4150=)
c.12444A>T (p.Gly4148=)
c.12438A>T (p.Gly4146=)
c.12414A>T (p.Gly4138=)
c.12237A>T (p.Gly4079=)
c.12381A>T (p.Gly4127=)
c.12453A>T (p.Gly4151=)
1g.237784133A>CCA345413198RYR2c.*3513A>C (n.*3513A>C)
c.12409A>C (p.Ser4137Arg)
c.12442A>C (p.Ser4148Arg)
c.4598A>C
c.12421A>C (p.Ser4141Arg)
c.2474A>C
c.12373A>C (p.Ser4125Arg)
n.3616A>C
c.12475A>C (p.Ser4159Arg)
c.12472A>C (p.Ser4158Arg)
c.12451A>C (p.Ser4151Arg)
c.12445A>C (p.Ser4149Arg)
c.12439A>C (p.Ser4147Arg)
c.12415A>C (p.Ser4139Arg)
c.12238A>C (p.Ser4080Arg)
c.12382A>C (p.Ser4128Arg)
c.12454A>C (p.Ser4152Arg)
1g.237784133A>GCA345413199RYR2c.*3513A>G (n.*3513A>G)
c.12409A>G (p.Ser4137Gly)
c.12442A>G (p.Ser4148Gly)
c.4598A>G
c.12421A>G (p.Ser4141Gly)
c.2474A>G
c.12373A>G (p.Ser4125Gly)
n.3616A>G
c.12475A>G (p.Ser4159Gly)
c.12472A>G (p.Ser4158Gly)
c.12451A>G (p.Ser4151Gly)
c.12445A>G (p.Ser4149Gly)
c.12439A>G (p.Ser4147Gly)
c.12415A>G (p.Ser4139Gly)
c.12238A>G (p.Ser4080Gly)
c.12382A>G (p.Ser4128Gly)
c.12454A>G (p.Ser4152Gly)
1g.237784133A>TCA345413201RYR2c.*3513A>T (n.*3513A>T)
c.12409A>T (p.Ser4137Cys)
c.12442A>T (p.Ser4148Cys)
c.4598A>T
c.12421A>T (p.Ser4141Cys)
c.2474A>T
c.12373A>T (p.Ser4125Cys)
n.3616A>T
c.12475A>T (p.Ser4159Cys)
c.12472A>T (p.Ser4158Cys)
c.12451A>T (p.Ser4151Cys)
c.12445A>T (p.Ser4149Cys)
c.12439A>T (p.Ser4147Cys)
c.12415A>T (p.Ser4139Cys)
c.12238A>T (p.Ser4080Cys)
c.12382A>T (p.Ser4128Cys)
c.12454A>T (p.Ser4152Cys)
1g.237784134G>ACA345413203RYR2c.*3514G>A (n.*3514G>A)
c.12410G>A (p.Ser4137Asn)
c.12443G>A (p.Ser4148Asn)
c.4599G>A
c.12422G>A (p.Ser4141Asn)
c.2475G>A
c.12374G>A (p.Ser4125Asn)
n.3617G>A
c.12476G>A (p.Ser4159Asn)
c.12473G>A (p.Ser4158Asn)
c.12452G>A (p.Ser4151Asn)
c.12446G>A (p.Ser4149Asn)
c.12440G>A (p.Ser4147Asn)
c.12416G>A (p.Ser4139Asn)
c.12239G>A (p.Ser4080Asn)
c.12383G>A (p.Ser4128Asn)
c.12455G>A (p.Ser4152Asn)
1g.237784134G>CCA345413205RYR2c.*3514G>C (n.*3514G>C)
c.12410G>C (p.Ser4137Thr)
c.12443G>C (p.Ser4148Thr)
c.4599G>C
c.12422G>C (p.Ser4141Thr)
c.2475G>C
c.12374G>C (p.Ser4125Thr)
n.3617G>C
c.12476G>C (p.Ser4159Thr)
c.12473G>C (p.Ser4158Thr)
c.12452G>C (p.Ser4151Thr)
c.12446G>C (p.Ser4149Thr)
c.12440G>C (p.Ser4147Thr)
c.12416G>C (p.Ser4139Thr)
c.12239G>C (p.Ser4080Thr)
c.12383G>C (p.Ser4128Thr)
c.12455G>C (p.Ser4152Thr)
1g.237784134G>TCA345413206RYR2c.*3514G>T (n.*3514G>T)
c.12410G>T (p.Ser4137Ile)
c.12443G>T (p.Ser4148Ile)
c.4599G>T
c.12422G>T (p.Ser4141Ile)
c.2475G>T
c.12374G>T (p.Ser4125Ile)
n.3617G>T
c.12476G>T (p.Ser4159Ile)
c.12473G>T (p.Ser4158Ile)
c.12452G>T (p.Ser4151Ile)
c.12446G>T (p.Ser4149Ile)
c.12440G>T (p.Ser4147Ile)
c.12416G>T (p.Ser4139Ile)
c.12239G>T (p.Ser4080Ile)
c.12383G>T (p.Ser4128Ile)
c.12455G>T (p.Ser4152Ile)
1g.237784135C>ACA345413208RYR2c.*3515C>A (n.*3515C>A)
c.12411C>A (p.Ser4137Arg)
c.12444C>A (p.Ser4148Arg)
c.4600C>A
c.12423C>A (p.Ser4141Arg)
c.2476C>A
c.12375C>A (p.Ser4125Arg)
n.3618C>A
c.12477C>A (p.Ser4159Arg)
c.12474C>A (p.Ser4158Arg)
c.12453C>A (p.Ser4151Arg)
c.12447C>A (p.Ser4149Arg)
c.12441C>A (p.Ser4147Arg)
c.12417C>A (p.Ser4139Arg)
c.12240C>A (p.Ser4080Arg)
c.12384C>A (p.Ser4128Arg)
c.12456C>A (p.Ser4152Arg)
1g.237784135C=CA2487482395RYR2c.*3515C= (n.*3515C=)
c.12411C= (p.Ser4137=)
c.12444C= (p.Ser4148=)
c.4600C=
c.12423C= (p.Ser4141=)
c.2476C=
c.12375C= (p.Ser4125=)
n.3618C=
c.12477C= (p.Ser4159=)
c.12474C= (p.Ser4158=)
c.12453C= (p.Ser4151=)
c.12447C= (p.Ser4149=)
c.12441C= (p.Ser4147=)
c.12417C= (p.Ser4139=)
c.12240C= (p.Ser4080=)
c.12384C= (p.Ser4128=)
c.12456C= (p.Ser4152=)
1g.237784135C>GCA345413210RYR2c.*3515C>G (n.*3515C>G)
c.12411C>G (p.Ser4137Arg)
c.12444C>G (p.Ser4148Arg)
c.4600C>G
c.12423C>G (p.Ser4141Arg)
c.2476C>G
c.12375C>G (p.Ser4125Arg)
n.3618C>G
c.12477C>G (p.Ser4159Arg)
c.12474C>G (p.Ser4158Arg)
c.12453C>G (p.Ser4151Arg)
c.12447C>G (p.Ser4149Arg)
c.12441C>G (p.Ser4147Arg)
c.12417C>G (p.Ser4139Arg)
c.12240C>G (p.Ser4080Arg)
c.12384C>G (p.Ser4128Arg)
c.12456C>G (p.Ser4152Arg)
 ClinVar
1g.237784135C>TCA39827599RYR2c.*3515C>T (n.*3515C>T)
c.12411C>T (p.Ser4137=)
c.12444C>T (p.Ser4148=)
c.4600C>T
c.12423C>T (p.Ser4141=)
c.2476C>T
c.12375C>T (p.Ser4125=)
n.3618C>T
c.12477C>T (p.Ser4159=)
c.12474C>T (p.Ser4158=)
c.12453C>T (p.Ser4151=)
c.12447C>T (p.Ser4149=)
c.12441C>T (p.Ser4147=)
c.12417C>T (p.Ser4139=)
c.12240C>T (p.Ser4080=)
c.12384C>T (p.Ser4128=)
c.12456C>T (p.Ser4152=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.237784136G>ACA085181RYR2c.*3516G>A (n.*3516G>A)
c.12412G>A (p.Ala4138Thr)
c.12445G>A (p.Ala4149Thr)
c.4601G>A
c.12424G>A (p.Ala4142Thr)
c.2477G>A
c.12376G>A (p.Ala4126Thr)
n.3619G>A
c.12478G>A (p.Ala4160Thr)
c.12475G>A (p.Ala4159Thr)
c.12454G>A (p.Ala4152Thr)
c.12448G>A (p.Ala4150Thr)
c.12442G>A (p.Ala4148Thr)
c.12418G>A (p.Ala4140Thr)
c.12241G>A (p.Ala4081Thr)
c.12385G>A (p.Ala4129Thr)
c.12457G>A (p.Ala4153Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.237784136G>CCA345413212RYR2c.*3516G>C (n.*3516G>C)
c.12412G>C (p.Ala4138Pro)
c.12445G>C (p.Ala4149Pro)
c.4601G>C
c.12424G>C (p.Ala4142Pro)
c.2477G>C
c.12376G>C (p.Ala4126Pro)
n.3619G>C
c.12478G>C (p.Ala4160Pro)
c.12475G>C (p.Ala4159Pro)
c.12454G>C (p.Ala4152Pro)
c.12448G>C (p.Ala4150Pro)
c.12442G>C (p.Ala4148Pro)
c.12418G>C (p.Ala4140Pro)
c.12241G>C (p.Ala4081Pro)
c.12385G>C (p.Ala4129Pro)
c.12457G>C (p.Ala4153Pro)
 ClinVar dbSNP
1g.237784136G=CA2487482396RYR2c.*3516G= (n.*3516G=)
c.12412G= (p.Ala4138=)
c.12445G= (p.Ala4149=)
c.4601G=
c.12424G= (p.Ala4142=)
c.2477G=
c.12376G= (p.Ala4126=)
n.3619G=
c.12478G= (p.Ala4160=)
c.12475G= (p.Ala4159=)
c.12454G= (p.Ala4152=)
c.12448G= (p.Ala4150=)
c.12442G= (p.Ala4148=)
c.12418G= (p.Ala4140=)
c.12241G= (p.Ala4081=)
c.12385G= (p.Ala4129=)
c.12457G= (p.Ala4153=)
1g.237784136G>TCA345413213RYR2c.*3516G>T (n.*3516G>T)
c.12412G>T (p.Ala4138Ser)
c.12445G>T (p.Ala4149Ser)
c.4601G>T
c.12424G>T (p.Ala4142Ser)
c.2477G>T
c.12376G>T (p.Ala4126Ser)
n.3619G>T
c.12478G>T (p.Ala4160Ser)
c.12475G>T (p.Ala4159Ser)
c.12454G>T (p.Ala4152Ser)
c.12448G>T (p.Ala4150Ser)
c.12442G>T (p.Ala4148Ser)
c.12418G>T (p.Ala4140Ser)
c.12241G>T (p.Ala4081Ser)
c.12385G>T (p.Ala4129Ser)
c.12457G>T (p.Ala4153Ser)
1g.237784137C>ACA345413217RYR2c.*3517C>A (n.*3517C>A)
c.12413C>A (p.Ala4138Asp)
c.12446C>A (p.Ala4149Asp)
c.4602C>A
c.12425C>A (p.Ala4142Asp)
c.2478C>A
c.12377C>A (p.Ala4126Asp)
n.3620C>A
c.12479C>A (p.Ala4160Asp)
c.12476C>A (p.Ala4159Asp)
c.12455C>A (p.Ala4152Asp)
c.12449C>A (p.Ala4150Asp)
c.12443C>A (p.Ala4148Asp)
c.12419C>A (p.Ala4140Asp)
c.12242C>A (p.Ala4081Asp)
c.12386C>A (p.Ala4129Asp)
c.12458C>A (p.Ala4153Asp)
1g.237784137C=CA2487482397RYR2c.*3517C= (n.*3517C=)
c.12413C= (p.Ala4138=)
c.12446C= (p.Ala4149=)
c.4602C=
c.12425C= (p.Ala4142=)
c.2478C=
c.12377C= (p.Ala4126=)
n.3620C=
c.12479C= (p.Ala4160=)
c.12476C= (p.Ala4159=)
c.12455C= (p.Ala4152=)
c.12449C= (p.Ala4150=)
c.12443C= (p.Ala4148=)
c.12419C= (p.Ala4140=)
c.12242C= (p.Ala4081=)
c.12386C= (p.Ala4129=)
c.12458C= (p.Ala4153=)
1g.237784137C>GCA345413216RYR2c.*3517C>G (n.*3517C>G)
c.12413C>G (p.Ala4138Gly)
c.12446C>G (p.Ala4149Gly)
c.4602C>G
c.12425C>G (p.Ala4142Gly)
c.2478C>G
c.12377C>G (p.Ala4126Gly)
n.3620C>G
c.12479C>G (p.Ala4160Gly)
c.12476C>G (p.Ala4159Gly)
c.12455C>G (p.Ala4152Gly)
c.12449C>G (p.Ala4150Gly)
c.12443C>G (p.Ala4148Gly)
c.12419C>G (p.Ala4140Gly)
c.12242C>G (p.Ala4081Gly)
c.12386C>G (p.Ala4129Gly)
c.12458C>G (p.Ala4153Gly)
1g.237784137C>TCA085182RYR2c.*3517C>T (n.*3517C>T)
c.12413C>T (p.Ala4138Val)
c.12446C>T (p.Ala4149Val)
c.4602C>T
c.12425C>T (p.Ala4142Val)
c.2478C>T
c.12377C>T (p.Ala4126Val)
n.3620C>T
c.12479C>T (p.Ala4160Val)
c.12476C>T (p.Ala4159Val)
c.12455C>T (p.Ala4152Val)
c.12449C>T (p.Ala4150Val)
c.12443C>T (p.Ala4148Val)
c.12419C>T (p.Ala4140Val)
c.12242C>T (p.Ala4081Val)
c.12386C>T (p.Ala4129Val)
c.12458C>T (p.Ala4153Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.237784138C>ACA424032170RYR2c.*3518C>A (n.*3518C>A)
c.12414C>A (p.Ala4138=)
c.12447C>A (p.Ala4149=)
c.4603C>A
c.12426C>A (p.Ala4142=)
c.2479C>A
c.12378C>A (p.Ala4126=)
n.3621C>A
c.12480C>A (p.Ala4160=)
c.12477C>A (p.Ala4159=)
c.12456C>A (p.Ala4152=)
c.12450C>A (p.Ala4150=)
c.12444C>A (p.Ala4148=)
c.12420C>A (p.Ala4140=)
c.12243C>A (p.Ala4081=)
c.12387C>A (p.Ala4129=)
c.12459C>A (p.Ala4153=)
1g.237784138C=CA2487482398RYR2c.*3518C= (n.*3518C=)
c.12414C= (p.Ala4138=)
c.12447C= (p.Ala4149=)
c.4603C=
c.12426C= (p.Ala4142=)
c.2479C=
c.12378C= (p.Ala4126=)
n.3621C=
c.12480C= (p.Ala4160=)
c.12477C= (p.Ala4159=)
c.12456C= (p.Ala4152=)
c.12450C= (p.Ala4150=)
c.12444C= (p.Ala4148=)
c.12420C= (p.Ala4140=)
c.12243C= (p.Ala4081=)
c.12387C= (p.Ala4129=)
c.12459C= (p.Ala4153=)
1g.237784138C>GCA424032173RYR2c.*3518C>G (n.*3518C>G)
c.12414C>G (p.Ala4138=)
c.12447C>G (p.Ala4149=)
c.4603C>G
c.12426C>G (p.Ala4142=)
c.2479C>G
c.12378C>G (p.Ala4126=)
n.3621C>G
c.12480C>G (p.Ala4160=)
c.12477C>G (p.Ala4159=)
c.12456C>G (p.Ala4152=)
c.12450C>G (p.Ala4150=)
c.12444C>G (p.Ala4148=)
c.12420C>G (p.Ala4140=)
c.12243C>G (p.Ala4081=)
c.12387C>G (p.Ala4129=)
c.12459C>G (p.Ala4153=)
 ClinVar
1g.237784138C>TCA424032171RYR2c.*3518C>T (n.*3518C>T)
c.12414C>T (p.Ala4138=)
c.12447C>T (p.Ala4149=)
c.4603C>T
c.12426C>T (p.Ala4142=)
c.2479C>T
c.12378C>T (p.Ala4126=)
n.3621C>T
c.12480C>T (p.Ala4160=)
c.12477C>T (p.Ala4159=)
c.12456C>T (p.Ala4152=)
c.12450C>T (p.Ala4150=)
c.12444C>T (p.Ala4148=)
c.12420C>T (p.Ala4140=)
c.12243C>T (p.Ala4081=)
c.12387C>T (p.Ala4129=)
c.12459C>T (p.Ala4153=)
 ClinVar dbSNP
1g.237784139A=CA2487482399RYR2c.*3519A= (n.*3519A=)
c.12415A= (p.Lys4139=)
c.12448A= (p.Lys4150=)
c.4604A=
c.12427A= (p.Lys4143=)
c.2480A=
c.12379A= (p.Lys4127=)
n.3622A=
c.12481A= (p.Lys4161=)
c.12478A= (p.Lys4160=)
c.12457A= (p.Lys4153=)
c.12451A= (p.Lys4151=)
c.12445A= (p.Lys4149=)
c.12421A= (p.Lys4141=)
c.12244A= (p.Lys4082=)
c.12388A= (p.Lys4130=)
c.12460A= (p.Lys4154=)
1g.237784139A>CCA007522RYR2c.*3519A>C (n.*3519A>C)
c.12415A>C (p.Lys4139Gln)
c.12448A>C (p.Lys4150Gln)
c.4604A>C
c.12427A>C (p.Lys4143Gln)
c.2480A>C
c.12379A>C (p.Lys4127Gln)
n.3622A>C
c.12481A>C (p.Lys4161Gln)
c.12478A>C (p.Lys4160Gln)
c.12457A>C (p.Lys4153Gln)
c.12451A>C (p.Lys4151Gln)
c.12445A>C (p.Lys4149Gln)
c.12421A>C (p.Lys4141Gln)
c.12244A>C (p.Lys4082Gln)
c.12388A>C (p.Lys4130Gln)
c.12460A>C (p.Lys4154Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784139A>GCA085183RYR2c.*3519A>G (n.*3519A>G)
c.12415A>G (p.Lys4139Glu)
c.12448A>G (p.Lys4150Glu)
c.4604A>G
c.12427A>G (p.Lys4143Glu)
c.2480A>G
c.12379A>G (p.Lys4127Glu)
n.3622A>G
c.12481A>G (p.Lys4161Glu)
c.12478A>G (p.Lys4160Glu)
c.12457A>G (p.Lys4153Glu)
c.12451A>G (p.Lys4151Glu)
c.12445A>G (p.Lys4149Glu)
c.12421A>G (p.Lys4141Glu)
c.12244A>G (p.Lys4082Glu)
c.12388A>G (p.Lys4130Glu)
c.12460A>G (p.Lys4154Glu)
 dbSNP ExAC gnomAD v2 COSMIC
1g.237784139A>TCA345413219RYR2c.*3519A>T (n.*3519A>T)
c.12415A>T (p.Lys4139Ter)
c.12448A>T (p.Lys4150Ter)
c.4604A>T
c.12427A>T (p.Lys4143Ter)
c.2480A>T
c.12379A>T (p.Lys4127Ter)
n.3622A>T
c.12481A>T (p.Lys4161Ter)
c.12478A>T (p.Lys4160Ter)
c.12457A>T (p.Lys4153Ter)
c.12451A>T (p.Lys4151Ter)
c.12445A>T (p.Lys4149Ter)
c.12421A>T (p.Lys4141Ter)
c.12244A>T (p.Lys4082Ter)
c.12388A>T (p.Lys4130Ter)
c.12460A>T (p.Lys4154Ter)
 dbSNP
1g.237784140A>CCA345413221RYR2c.*3520A>C (n.*3520A>C)
c.12416A>C (p.Lys4139Thr)
c.12449A>C (p.Lys4150Thr)
c.4605A>C
c.12428A>C (p.Lys4143Thr)
c.2481A>C
c.12380A>C (p.Lys4127Thr)
n.3623A>C
c.12482A>C (p.Lys4161Thr)
c.12479A>C (p.Lys4160Thr)
c.12458A>C (p.Lys4153Thr)
c.12452A>C (p.Lys4151Thr)
c.12446A>C (p.Lys4149Thr)
c.12422A>C (p.Lys4141Thr)
c.12245A>C (p.Lys4082Thr)
c.12389A>C (p.Lys4130Thr)
c.12461A>C (p.Lys4154Thr)
 COSMIC COSMIC
1g.237784140A>GCA345413222RYR2c.*3520A>G (n.*3520A>G)
c.12416A>G (p.Lys4139Arg)
c.12449A>G (p.Lys4150Arg)
c.4605A>G
c.12428A>G (p.Lys4143Arg)
c.2481A>G
c.12380A>G (p.Lys4127Arg)
n.3623A>G
c.12482A>G (p.Lys4161Arg)
c.12479A>G (p.Lys4160Arg)
c.12458A>G (p.Lys4153Arg)
c.12452A>G (p.Lys4151Arg)
c.12446A>G (p.Lys4149Arg)
c.12422A>G (p.Lys4141Arg)
c.12245A>G (p.Lys4082Arg)
c.12389A>G (p.Lys4130Arg)
c.12461A>G (p.Lys4154Arg)
1g.237784140A>TCA345413224RYR2c.*3520A>T (n.*3520A>T)
c.12416A>T (p.Lys4139Ile)
c.12449A>T (p.Lys4150Ile)
c.4605A>T
c.12428A>T (p.Lys4143Ile)
c.2481A>T
c.12380A>T (p.Lys4127Ile)
n.3623A>T
c.12482A>T (p.Lys4161Ile)
c.12479A>T (p.Lys4160Ile)
c.12458A>T (p.Lys4153Ile)
c.12452A>T (p.Lys4151Ile)
c.12446A>T (p.Lys4149Ile)
c.12422A>T (p.Lys4141Ile)
c.12245A>T (p.Lys4082Ile)
c.12389A>T (p.Lys4130Ile)
c.12461A>T (p.Lys4154Ile)
1g.237784142_237784143insACACCCAACCA2748280164RYR2c.*3522_*3523insACACCCAAC (n.*3522_*3523insACACCCAAC)
c.12418_12419insACACCCAAC (p.Lys4139_Arg4140insHisThrGln)
c.12451_12452insACACCCAAC (p.Lys4150_Arg4151insHisThrGln)
c.4607_4608insACACCCAAC
c.12430_12431insACACCCAAC (p.Lys4143_Arg4144insHisThrGln)
c.2483_2484insACACCCAAC
c.12382_12383insACACCCAAC (p.Lys4127_Arg4128insHisThrGln)
n.3625_3626insACACCCAAC
c.12484_12485insACACCCAAC (p.Lys4161_Arg4162insHisThrGln)
c.12481_12482insACACCCAAC (p.Lys4160_Arg4161insHisThrGln)
c.12460_12461insACACCCAAC (p.Lys4153_Arg4154insHisThrGln)
c.12454_12455insACACCCAAC (p.Lys4151_Arg4152insHisThrGln)
c.12448_12449insACACCCAAC (p.Lys4149_Arg4150insHisThrGln)
c.12424_12425insACACCCAAC (p.Lys4141_Arg4142insHisThrGln)
c.12247_12248insACACCCAAC (p.Lys4082_Arg4083insHisThrGln)
c.12391_12392insACACCCAAC (p.Lys4130_Arg4131insHisThrGln)
c.12463_12464insACACCCAAC (p.Lys4154_Arg4155insHisThrGln)
1g.237784141A>CCA345413225RYR2c.*3521A>C (n.*3521A>C)
c.12417A>C (p.Lys4139Asn)
c.12450A>C (p.Lys4150Asn)
c.4606A>C
c.12429A>C (p.Lys4143Asn)
c.2482A>C
c.12381A>C (p.Lys4127Asn)
n.3624A>C
c.12483A>C (p.Lys4161Asn)
c.12480A>C (p.Lys4160Asn)
c.12459A>C (p.Lys4153Asn)
c.12453A>C (p.Lys4151Asn)
c.12447A>C (p.Lys4149Asn)
c.12423A>C (p.Lys4141Asn)
c.12246A>C (p.Lys4082Asn)
c.12390A>C (p.Lys4130Asn)
c.12462A>C (p.Lys4154Asn)
1g.237784141A>GCA424032181RYR2c.*3521A>G (n.*3521A>G)
c.12417A>G (p.Lys4139=)
c.12450A>G (p.Lys4150=)
c.4606A>G
c.12429A>G (p.Lys4143=)
c.2482A>G
c.12381A>G (p.Lys4127=)
n.3624A>G
c.12483A>G (p.Lys4161=)
c.12480A>G (p.Lys4160=)
c.12459A>G (p.Lys4153=)
c.12453A>G (p.Lys4151=)
c.12447A>G (p.Lys4149=)
c.12423A>G (p.Lys4141=)
c.12246A>G (p.Lys4082=)
c.12390A>G (p.Lys4130=)
c.12462A>G (p.Lys4154=)
1g.237784141A>TCA345413226RYR2c.*3521A>T (n.*3521A>T)
c.12417A>T (p.Lys4139Asn)
c.12450A>T (p.Lys4150Asn)
c.4606A>T
c.12429A>T (p.Lys4143Asn)
c.2482A>T
c.12381A>T (p.Lys4127Asn)
n.3624A>T
c.12483A>T (p.Lys4161Asn)
c.12480A>T (p.Lys4160Asn)
c.12459A>T (p.Lys4153Asn)
c.12453A>T (p.Lys4151Asn)
c.12447A>T (p.Lys4149Asn)
c.12423A>T (p.Lys4141Asn)
c.12246A>T (p.Lys4082Asn)
c.12390A>T (p.Lys4130Asn)
c.12462A>T (p.Lys4154Asn)
1g.237784142C>ACA345413228RYR2c.*3522C>A (n.*3522C>A)
c.12418C>A (p.Arg4140Ser)
c.12451C>A (p.Arg4151Ser)
c.4607C>A
c.12430C>A (p.Arg4144Ser)
c.2483C>A
c.12382C>A (p.Arg4128Ser)
n.3625C>A
c.12484C>A (p.Arg4162Ser)
c.12481C>A (p.Arg4161Ser)
c.12460C>A (p.Arg4154Ser)
c.12454C>A (p.Arg4152Ser)
c.12448C>A (p.Arg4150Ser)
c.12424C>A (p.Arg4142Ser)
c.12247C>A (p.Arg4083Ser)
c.12391C>A (p.Arg4131Ser)
c.12463C>A (p.Arg4155Ser)
1g.237784142C=CA2487482400RYR2c.*3522C= (n.*3522C=)
c.12418C= (p.Arg4140=)
c.12451C= (p.Arg4151=)
c.4607C=
c.12430C= (p.Arg4144=)
c.2483C=
c.12382C= (p.Arg4128=)
n.3625C=
c.12484C= (p.Arg4162=)
c.12481C= (p.Arg4161=)
c.12460C= (p.Arg4154=)
c.12454C= (p.Arg4152=)
c.12448C= (p.Arg4150=)
c.12424C= (p.Arg4142=)
c.12247C= (p.Arg4083=)
c.12391C= (p.Arg4131=)
c.12463C= (p.Arg4155=)
1g.237784142C>GCA345413229RYR2c.*3522C>G (n.*3522C>G)
c.12418C>G (p.Arg4140Gly)
c.12451C>G (p.Arg4151Gly)
c.4607C>G
c.12430C>G (p.Arg4144Gly)
c.2483C>G
c.12382C>G (p.Arg4128Gly)
n.3625C>G
c.12484C>G (p.Arg4162Gly)
c.12481C>G (p.Arg4161Gly)
c.12460C>G (p.Arg4154Gly)
c.12454C>G (p.Arg4152Gly)
c.12448C>G (p.Arg4150Gly)
c.12424C>G (p.Arg4142Gly)
c.12247C>G (p.Arg4083Gly)
c.12391C>G (p.Arg4131Gly)
c.12463C>G (p.Arg4155Gly)
1g.237784142C>TCA345413230RYR2c.*3522C>T (n.*3522C>T)
c.12418C>T (p.Arg4140Cys)
c.12451C>T (p.Arg4151Cys)
c.4607C>T
c.12430C>T (p.Arg4144Cys)
c.2483C>T
c.12382C>T (p.Arg4128Cys)
n.3625C>T
c.12484C>T (p.Arg4162Cys)
c.12481C>T (p.Arg4161Cys)
c.12460C>T (p.Arg4154Cys)
c.12454C>T (p.Arg4152Cys)
c.12448C>T (p.Arg4150Cys)
c.12424C>T (p.Arg4142Cys)
c.12247C>T (p.Arg4083Cys)
c.12391C>T (p.Arg4131Cys)
c.12463C>T (p.Arg4155Cys)
 ClinVar dbSNP COSMIC
1g.237784143G>ACA39827631RYR2c.*3523G>A (n.*3523G>A)
c.12419G>A (p.Arg4140His)
c.12452G>A (p.Arg4151His)
c.4608G>A
c.12431G>A (p.Arg4144His)
c.2484G>A
c.12383G>A (p.Arg4128His)
n.3626G>A
c.12485G>A (p.Arg4162His)
c.12482G>A (p.Arg4161His)
c.12461G>A (p.Arg4154His)
c.12455G>A (p.Arg4152His)
c.12449G>A (p.Arg4150His)
c.12425G>A (p.Arg4142His)
c.12248G>A (p.Arg4083His)
c.12392G>A (p.Arg4131His)
c.12464G>A (p.Arg4155His)
 dbSNP gnomAD v4 COSMIC
1g.237784143G>CCA345413234RYR2c.*3523G>C (n.*3523G>C)
c.12419G>C (p.Arg4140Pro)
c.12452G>C (p.Arg4151Pro)
c.4608G>C
c.12431G>C (p.Arg4144Pro)
c.2484G>C
c.12383G>C (p.Arg4128Pro)
n.3626G>C
c.12485G>C (p.Arg4162Pro)
c.12482G>C (p.Arg4161Pro)
c.12461G>C (p.Arg4154Pro)
c.12455G>C (p.Arg4152Pro)
c.12449G>C (p.Arg4150Pro)
c.12425G>C (p.Arg4142Pro)
c.12248G>C (p.Arg4083Pro)
c.12392G>C (p.Arg4131Pro)
c.12464G>C (p.Arg4155Pro)
 gnomAD v4
1g.237784143G=CA2487482401RYR2c.*3523G= (n.*3523G=)
c.12419G= (p.Arg4140=)
c.12452G= (p.Arg4151=)
c.4608G=
c.12431G= (p.Arg4144=)
c.2484G=
c.12383G= (p.Arg4128=)
n.3626G=
c.12485G= (p.Arg4162=)
c.12482G= (p.Arg4161=)
c.12461G= (p.Arg4154=)
c.12455G= (p.Arg4152=)
c.12449G= (p.Arg4150=)
c.12425G= (p.Arg4142=)
c.12248G= (p.Arg4083=)
c.12392G= (p.Arg4131=)
c.12464G= (p.Arg4155=)
1g.237784143G>TCA345413235RYR2c.*3523G>T (n.*3523G>T)
c.12419G>T (p.Arg4140Leu)
c.12452G>T (p.Arg4151Leu)
c.4608G>T
c.12431G>T (p.Arg4144Leu)
c.2484G>T
c.12383G>T (p.Arg4128Leu)
n.3626G>T
c.12485G>T (p.Arg4162Leu)
c.12482G>T (p.Arg4161Leu)
c.12461G>T (p.Arg4154Leu)
c.12455G>T (p.Arg4152Leu)
c.12449G>T (p.Arg4150Leu)
c.12425G>T (p.Arg4142Leu)
c.12248G>T (p.Arg4083Leu)
c.12392G>T (p.Arg4131Leu)
c.12464G>T (p.Arg4155Leu)
1g.237784144C>ACA424032184RYR2c.*3524C>A (n.*3524C>A)
c.12420C>A (p.Arg4140=)
c.12453C>A (p.Arg4151=)
c.4609C>A
c.12432C>A (p.Arg4144=)
c.2485C>A
c.12384C>A (p.Arg4128=)
n.3627C>A
c.12486C>A (p.Arg4162=)
c.12483C>A (p.Arg4161=)
c.12462C>A (p.Arg4154=)
c.12456C>A (p.Arg4152=)
c.12450C>A (p.Arg4150=)
c.12426C>A (p.Arg4142=)
c.12249C>A (p.Arg4083=)
c.12393C>A (p.Arg4131=)
c.12465C>A (p.Arg4155=)
1g.237784144C>GCA424032185RYR2c.*3524C>G (n.*3524C>G)
c.12420C>G (p.Arg4140=)
c.12453C>G (p.Arg4151=)
c.4609C>G
c.12432C>G (p.Arg4144=)
c.2485C>G
c.12384C>G (p.Arg4128=)
n.3627C>G
c.12486C>G (p.Arg4162=)
c.12483C>G (p.Arg4161=)
c.12462C>G (p.Arg4154=)
c.12456C>G (p.Arg4152=)
c.12450C>G (p.Arg4150=)
c.12426C>G (p.Arg4142=)
c.12249C>G (p.Arg4083=)
c.12393C>G (p.Arg4131=)
c.12465C>G (p.Arg4155=)
1g.237784144C>TCA424032187RYR2c.*3524C>T (n.*3524C>T)
c.12420C>T (p.Arg4140=)
c.12453C>T (p.Arg4151=)
c.4609C>T
c.12432C>T (p.Arg4144=)
c.2485C>T
c.12384C>T (p.Arg4128=)
n.3627C>T
c.12486C>T (p.Arg4162=)
c.12483C>T (p.Arg4161=)
c.12462C>T (p.Arg4154=)
c.12456C>T (p.Arg4152=)
c.12450C>T (p.Arg4150=)
c.12426C>T (p.Arg4142=)
c.12249C>T (p.Arg4083=)
c.12393C>T (p.Arg4131=)
c.12465C>T (p.Arg4155=)
1g.237784145A>CCA345413237RYR2c.*3525A>C (n.*3525A>C)
c.12421A>C (p.Ile4141Leu)
c.12454A>C (p.Ile4152Leu)
c.4610A>C
c.12433A>C (p.Ile4145Leu)
c.2486A>C
c.12385A>C (p.Ile4129Leu)
n.3628A>C
c.12487A>C (p.Ile4163Leu)
c.12484A>C (p.Ile4162Leu)
c.12463A>C (p.Ile4155Leu)
c.12457A>C (p.Ile4153Leu)
c.12451A>C (p.Ile4151Leu)
c.12427A>C (p.Ile4143Leu)
c.12250A>C (p.Ile4084Leu)
c.12394A>C (p.Ile4132Leu)
c.12466A>C (p.Ile4156Leu)
1g.237784145A>GCA345413239RYR2c.*3525A>G (n.*3525A>G)
c.12421A>G (p.Ile4141Val)
c.12454A>G (p.Ile4152Val)
c.4610A>G
c.12433A>G (p.Ile4145Val)
c.2486A>G
c.12385A>G (p.Ile4129Val)
n.3628A>G
c.12487A>G (p.Ile4163Val)
c.12484A>G (p.Ile4162Val)
c.12463A>G (p.Ile4155Val)
c.12457A>G (p.Ile4153Val)
c.12451A>G (p.Ile4151Val)
c.12427A>G (p.Ile4143Val)
c.12250A>G (p.Ile4084Val)
c.12394A>G (p.Ile4132Val)
c.12466A>G (p.Ile4156Val)
1g.237784145A>TCA345413236RYR2c.*3525A>T (n.*3525A>T)
c.12421A>T (p.Ile4141Phe)
c.12454A>T (p.Ile4152Phe)
c.4610A>T
c.12433A>T (p.Ile4145Phe)
c.2486A>T
c.12385A>T (p.Ile4129Phe)
n.3628A>T
c.12487A>T (p.Ile4163Phe)
c.12484A>T (p.Ile4162Phe)
c.12463A>T (p.Ile4155Phe)
c.12457A>T (p.Ile4153Phe)
c.12451A>T (p.Ile4151Phe)
c.12427A>T (p.Ile4143Phe)
c.12250A>T (p.Ile4084Phe)
c.12394A>T (p.Ile4132Phe)
c.12466A>T (p.Ile4156Phe)
1g.237784146T>ACA345413240RYR2c.*3526T>A (n.*3526T>A)
c.12422T>A (p.Ile4141Asn)
c.12455T>A (p.Ile4152Asn)
c.4611T>A
c.12434T>A (p.Ile4145Asn)
c.2487T>A
c.12386T>A (p.Ile4129Asn)
n.3629T>A
c.12488T>A (p.Ile4163Asn)
c.12485T>A (p.Ile4162Asn)
c.12464T>A (p.Ile4155Asn)
c.12458T>A (p.Ile4153Asn)
c.12452T>A (p.Ile4151Asn)
c.12428T>A (p.Ile4143Asn)
c.12251T>A (p.Ile4084Asn)
c.12395T>A (p.Ile4132Asn)
c.12467T>A (p.Ile4156Asn)
1g.237784146T>CCA345413241RYR2c.*3526T>C (n.*3526T>C)
c.12422T>C (p.Ile4141Thr)
c.12455T>C (p.Ile4152Thr)
c.4611T>C
c.12434T>C (p.Ile4145Thr)
c.2487T>C
c.12386T>C (p.Ile4129Thr)
n.3629T>C
c.12488T>C (p.Ile4163Thr)
c.12485T>C (p.Ile4162Thr)
c.12464T>C (p.Ile4155Thr)
c.12458T>C (p.Ile4153Thr)
c.12452T>C (p.Ile4151Thr)
c.12428T>C (p.Ile4143Thr)
c.12251T>C (p.Ile4084Thr)
c.12395T>C (p.Ile4132Thr)
c.12467T>C (p.Ile4156Thr)
1g.237784146T>GCA345413243RYR2c.*3526T>G (n.*3526T>G)
c.12422T>G (p.Ile4141Ser)
c.12455T>G (p.Ile4152Ser)
c.4611T>G
c.12434T>G (p.Ile4145Ser)
c.2487T>G
c.12386T>G (p.Ile4129Ser)
n.3629T>G
c.12488T>G (p.Ile4163Ser)
c.12485T>G (p.Ile4162Ser)
c.12464T>G (p.Ile4155Ser)
c.12458T>G (p.Ile4153Ser)
c.12452T>G (p.Ile4151Ser)
c.12428T>G (p.Ile4143Ser)
c.12251T>G (p.Ile4084Ser)
c.12395T>G (p.Ile4132Ser)
c.12467T>G (p.Ile4156Ser)
1g.237784147C>ACA424032191RYR2c.*3527C>A (n.*3527C>A)
c.12423C>A (p.Ile4141=)
c.12456C>A (p.Ile4152=)
c.4612C>A
c.12435C>A (p.Ile4145=)
c.2488C>A
c.12387C>A (p.Ile4129=)
n.3630C>A
c.12489C>A (p.Ile4163=)
c.12486C>A (p.Ile4162=)
c.12465C>A (p.Ile4155=)
c.12459C>A (p.Ile4153=)
c.12453C>A (p.Ile4151=)
c.12429C>A (p.Ile4143=)
c.12252C>A (p.Ile4084=)
c.12396C>A (p.Ile4132=)
c.12468C>A (p.Ile4156=)
 dbSNP gnomAD v4 COSMIC COSMIC
1g.237784147C=CA2487482402RYR2c.*3527C= (n.*3527C=)
c.12423C= (p.Ile4141=)
c.12456C= (p.Ile4152=)
c.4612C=
c.12435C= (p.Ile4145=)
c.2488C=
c.12387C= (p.Ile4129=)
n.3630C=
c.12489C= (p.Ile4163=)
c.12486C= (p.Ile4162=)
c.12465C= (p.Ile4155=)
c.12459C= (p.Ile4153=)
c.12453C= (p.Ile4151=)
c.12429C= (p.Ile4143=)
c.12252C= (p.Ile4084=)
c.12396C= (p.Ile4132=)
c.12468C= (p.Ile4156=)
1g.237784147C>GCA345413245RYR2c.*3527C>G (n.*3527C>G)
c.12423C>G (p.Ile4141Met)
c.12456C>G (p.Ile4152Met)
c.4612C>G
c.12435C>G (p.Ile4145Met)
c.2488C>G
c.12387C>G (p.Ile4129Met)
n.3630C>G
c.12489C>G (p.Ile4163Met)
c.12486C>G (p.Ile4162Met)
c.12465C>G (p.Ile4155Met)
c.12459C>G (p.Ile4153Met)
c.12453C>G (p.Ile4151Met)
c.12429C>G (p.Ile4143Met)
c.12252C>G (p.Ile4084Met)
c.12396C>G (p.Ile4132Met)
c.12468C>G (p.Ile4156Met)
1g.237784147C>TCA39827635RYR2c.*3527C>T (n.*3527C>T)
c.12423C>T (p.Ile4141=)
c.12456C>T (p.Ile4152=)
c.4612C>T
c.12435C>T (p.Ile4145=)
c.2488C>T
c.12387C>T (p.Ile4129=)
n.3630C>T
c.12489C>T (p.Ile4163=)
c.12486C>T (p.Ile4162=)
c.12465C>T (p.Ile4155=)
c.12459C>T (p.Ile4153=)
c.12453C>T (p.Ile4151=)
c.12429C>T (p.Ile4143=)
c.12252C>T (p.Ile4084=)
c.12396C>T (p.Ile4132=)
c.12468C>T (p.Ile4156=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237784147_237784149delinsCGACA2487482403RYR2c.*3527_*3529delinsCGA (n.*3527_*3529delinsCGA)
c.12423_12425delinsCGA (p.Ile4141=)
c.12456_12458delinsCGA (p.Ile4152=)
c.4612_4614delinsCGA
c.12435_12437delinsCGA (p.Ile4145=)
c.2488_2490delinsCGA
c.12387_12389delinsCGA (p.Ile4129=)
n.3630_3632delinsCGA
c.12489_12491delinsCGA (p.Ile4163=)
c.12486_12488delinsCGA (p.Ile4162=)
c.12465_12467delinsCGA (p.Ile4155=)
c.12459_12461delinsCGA (p.Ile4153=)
c.12453_12455delinsCGA (p.Ile4151=)
c.12429_12431delinsCGA (p.Ile4143=)
c.12252_12254delinsCGA (p.Ile4084=)
c.12396_12398delinsCGA (p.Ile4132=)
c.12468_12470delinsCGA (p.Ile4156=)
1g.237784148G>ACA345413247RYR2c.*3528G>A (n.*3528G>A)
c.12424G>A (p.Glu4142Lys)
c.12457G>A (p.Glu4153Lys)
c.4613G>A
c.12436G>A (p.Glu4146Lys)
c.2489G>A
c.12388G>A (p.Glu4130Lys)
n.3631G>A
c.12490G>A (p.Glu4164Lys)
c.12487G>A (p.Glu4163Lys)
c.12466G>A (p.Glu4156Lys)
c.12460G>A (p.Glu4154Lys)
c.12454G>A (p.Glu4152Lys)
c.12430G>A (p.Glu4144Lys)
c.12253G>A (p.Glu4085Lys)
c.12397G>A (p.Glu4133Lys)
c.12469G>A (p.Glu4157Lys)
 dbSNP
1g.237784148G>CCA345413248RYR2c.*3528G>C (n.*3528G>C)
c.12424G>C (p.Glu4142Gln)
c.12457G>C (p.Glu4153Gln)
c.4613G>C
c.12436G>C (p.Glu4146Gln)
c.2489G>C
c.12388G>C (p.Glu4130Gln)
n.3631G>C
c.12490G>C (p.Glu4164Gln)
c.12487G>C (p.Glu4163Gln)
c.12466G>C (p.Glu4156Gln)
c.12460G>C (p.Glu4154Gln)
c.12454G>C (p.Glu4152Gln)
c.12430G>C (p.Glu4144Gln)
c.12253G>C (p.Glu4085Gln)
c.12397G>C (p.Glu4133Gln)
c.12469G>C (p.Glu4157Gln)
1g.237784148G=CA2487482404RYR2c.*3528G= (n.*3528G=)
c.12424G= (p.Glu4142=)
c.12457G= (p.Glu4153=)
c.4613G=
c.12436G= (p.Glu4146=)
c.2489G=
c.12388G= (p.Glu4130=)
n.3631G=
c.12490G= (p.Glu4164=)
c.12487G= (p.Glu4163=)
c.12466G= (p.Glu4156=)
c.12460G= (p.Glu4154=)
c.12454G= (p.Glu4152=)
c.12430G= (p.Glu4144=)
c.12253G= (p.Glu4085=)
c.12397G= (p.Glu4133=)
c.12469G= (p.Glu4157=)
1g.237784148G>TCA345413250RYR2c.*3528G>T (n.*3528G>T)
c.12424G>T (p.Glu4142Ter)
c.12457G>T (p.Glu4153Ter)
c.4613G>T
c.12436G>T (p.Glu4146Ter)
c.2489G>T
c.12388G>T (p.Glu4130Ter)
n.3631G>T
c.12490G>T (p.Glu4164Ter)
c.12487G>T (p.Glu4163Ter)
c.12466G>T (p.Glu4156Ter)
c.12460G>T (p.Glu4154Ter)
c.12454G>T (p.Glu4152Ter)
c.12430G>T (p.Glu4144Ter)
c.12253G>T (p.Glu4085Ter)
c.12397G>T (p.Glu4133Ter)
c.12469G>T (p.Glu4157Ter)
 COSMIC COSMIC
1g.237784151_237784152delCA1013748110RYR2c.*3531_*3532del (n.*3531_*3532del)
c.12427_12428del (p.Arg4143GlyfsTer4)
c.12460_12461del (p.Arg4154GlyfsTer4)
c.4616_4617del
c.12439_12440del (p.Arg4147GlyfsTer4)
c.2492_2493del
c.12391_12392del (p.Arg4131GlyfsTer4)
n.3634_3635del
c.12493_12494del (p.Arg4165GlyfsTer4)
c.12490_12491del (p.Arg4164GlyfsTer4)
c.12469_12470del (p.Arg4157GlyfsTer4)
c.12463_12464del (p.Arg4155GlyfsTer4)
c.12457_12458del (p.Arg4153GlyfsTer4)
c.12433_12434del (p.Arg4145GlyfsTer4)
c.12256_12257del (p.Arg4086GlyfsTer4)
c.12400_12401del (p.Arg4134GlyfsTer4)
c.12472_12473del (p.Arg4158GlyfsTer4)
 dbSNP gnomAD v3 gnomAD v4
1g.237784149A=CA2487482405RYR2c.*3529A= (n.*3529A=)
c.12425A= (p.Glu4142=)
c.12458A= (p.Glu4153=)
c.4614A=
c.12437A= (p.Glu4146=)
c.2490A=
c.12389A= (p.Glu4130=)
n.3632A=
c.12491A= (p.Glu4164=)
c.12488A= (p.Glu4163=)
c.12467A= (p.Glu4156=)
c.12461A= (p.Glu4154=)
c.12455A= (p.Glu4152=)
c.12431A= (p.Glu4144=)
c.12254A= (p.Glu4085=)
c.12398A= (p.Glu4133=)
c.12470A= (p.Glu4157=)
1g.237784149A>CCA345413252RYR2c.*3529A>C (n.*3529A>C)
c.12425A>C (p.Glu4142Ala)
c.12458A>C (p.Glu4153Ala)
c.4614A>C
c.12437A>C (p.Glu4146Ala)
c.2490A>C
c.12389A>C (p.Glu4130Ala)
n.3632A>C
c.12491A>C (p.Glu4164Ala)
c.12488A>C (p.Glu4163Ala)
c.12467A>C (p.Glu4156Ala)
c.12461A>C (p.Glu4154Ala)
c.12455A>C (p.Glu4152Ala)
c.12431A>C (p.Glu4144Ala)
c.12254A>C (p.Glu4085Ala)
c.12398A>C (p.Glu4133Ala)
c.12470A>C (p.Glu4157Ala)
1g.237784149A>GCA345413254RYR2c.*3529A>G (n.*3529A>G)
c.12425A>G (p.Glu4142Gly)
c.12458A>G (p.Glu4153Gly)
c.4614A>G
c.12437A>G (p.Glu4146Gly)
c.2490A>G
c.12389A>G (p.Glu4130Gly)
n.3632A>G
c.12491A>G (p.Glu4164Gly)
c.12488A>G (p.Glu4163Gly)
c.12467A>G (p.Glu4156Gly)
c.12461A>G (p.Glu4154Gly)
c.12455A>G (p.Glu4152Gly)
c.12431A>G (p.Glu4144Gly)
c.12254A>G (p.Glu4085Gly)
c.12398A>G (p.Glu4133Gly)
c.12470A>G (p.Glu4157Gly)
 ClinVar dbSNP
1g.237784149A>TCA345413253RYR2c.*3529A>T (n.*3529A>T)
c.12425A>T (p.Glu4142Val)
c.12458A>T (p.Glu4153Val)
c.4614A>T
c.12437A>T (p.Glu4146Val)
c.2490A>T
c.12389A>T (p.Glu4130Val)
n.3632A>T
c.12491A>T (p.Glu4164Val)
c.12488A>T (p.Glu4163Val)
c.12467A>T (p.Glu4156Val)
c.12461A>T (p.Glu4154Val)
c.12455A>T (p.Glu4152Val)
c.12431A>T (p.Glu4144Val)
c.12254A>T (p.Glu4085Val)
c.12398A>T (p.Glu4133Val)
c.12470A>T (p.Glu4157Val)
1g.237784150G>ACA424032193RYR2c.*3530G>A (n.*3530G>A)
c.12426G>A (p.Glu4142=)
c.12459G>A (p.Glu4153=)
c.4615G>A
c.12438G>A (p.Glu4146=)
c.2491G>A
c.12390G>A (p.Glu4130=)
n.3633G>A
c.12492G>A (p.Glu4164=)
c.12489G>A (p.Glu4163=)
c.12468G>A (p.Glu4156=)
c.12462G>A (p.Glu4154=)
c.12456G>A (p.Glu4152=)
c.12432G>A (p.Glu4144=)
c.12255G>A (p.Glu4085=)
c.12399G>A (p.Glu4133=)
c.12471G>A (p.Glu4157=)
1g.237784150G>CCA204285RYR2c.*3530G>C (n.*3530G>C)
c.12426G>C (p.Glu4142Asp)
c.12459G>C (p.Glu4153Asp)
c.4615G>C
c.12438G>C (p.Glu4146Asp)
c.2491G>C
c.12390G>C (p.Glu4130Asp)
n.3633G>C
c.12492G>C (p.Glu4164Asp)
c.12489G>C (p.Glu4163Asp)
c.12468G>C (p.Glu4156Asp)
c.12462G>C (p.Glu4154Asp)
c.12456G>C (p.Glu4152Asp)
c.12432G>C (p.Glu4144Asp)
c.12255G>C (p.Glu4085Asp)
c.12399G>C (p.Glu4133Asp)
c.12471G>C (p.Glu4157Asp)
 ClinVar dbSNP
1g.237784150G=CA2487482406RYR2c.*3530G= (n.*3530G=)
c.12426G= (p.Glu4142=)
c.12459G= (p.Glu4153=)
c.4615G=
c.12438G= (p.Glu4146=)
c.2491G=
c.12390G= (p.Glu4130=)
n.3633G=
c.12492G= (p.Glu4164=)
c.12489G= (p.Glu4163=)
c.12468G= (p.Glu4156=)
c.12462G= (p.Glu4154=)
c.12456G= (p.Glu4152=)
c.12432G= (p.Glu4144=)
c.12255G= (p.Glu4085=)
c.12399G= (p.Glu4133=)
c.12471G= (p.Glu4157=)
1g.237784150G>TCA345413255RYR2c.*3530G>T (n.*3530G>T)
c.12426G>T (p.Glu4142Asp)
c.12459G>T (p.Glu4153Asp)
c.4615G>T
c.12438G>T (p.Glu4146Asp)
c.2491G>T
c.12390G>T (p.Glu4130Asp)
n.3633G>T
c.12492G>T (p.Glu4164Asp)
c.12489G>T (p.Glu4163Asp)
c.12468G>T (p.Glu4156Asp)
c.12462G>T (p.Glu4154Asp)
c.12456G>T (p.Glu4152Asp)
c.12432G>T (p.Glu4144Asp)
c.12255G>T (p.Glu4085Asp)
c.12399G>T (p.Glu4133Asp)
c.12471G>T (p.Glu4157Asp)
1g.237784151A>CCA424032194RYR2c.*3531A>C (n.*3531A>C)
c.12427A>C (p.Arg4143=)
c.12460A>C (p.Arg4154=)
c.4616A>C
c.12439A>C (p.Arg4147=)
c.2492A>C
c.12391A>C (p.Arg4131=)
n.3634A>C
c.12493A>C (p.Arg4165=)
c.12490A>C (p.Arg4164=)
c.12469A>C (p.Arg4157=)
c.12463A>C (p.Arg4155=)
c.12457A>C (p.Arg4153=)
c.12433A>C (p.Arg4145=)
c.12256A>C (p.Arg4086=)
c.12400A>C (p.Arg4134=)
c.12472A>C (p.Arg4158=)
1g.237784151A>GCA345413256RYR2c.*3531A>G (n.*3531A>G)
c.12427A>G (p.Arg4143Gly)
c.12460A>G (p.Arg4154Gly)
c.4616A>G
c.12439A>G (p.Arg4147Gly)
c.2492A>G
c.12391A>G (p.Arg4131Gly)
n.3634A>G
c.12493A>G (p.Arg4165Gly)
c.12490A>G (p.Arg4164Gly)
c.12469A>G (p.Arg4157Gly)
c.12463A>G (p.Arg4155Gly)
c.12457A>G (p.Arg4153Gly)
c.12433A>G (p.Arg4145Gly)
c.12256A>G (p.Arg4086Gly)
c.12400A>G (p.Arg4134Gly)
c.12472A>G (p.Arg4158Gly)
1g.237784151A>TCA345413257RYR2c.*3531A>T (n.*3531A>T)
c.12427A>T (p.Arg4143Trp)
c.12460A>T (p.Arg4154Trp)
c.4616A>T
c.12439A>T (p.Arg4147Trp)
c.2492A>T
c.12391A>T (p.Arg4131Trp)
n.3634A>T
c.12493A>T (p.Arg4165Trp)
c.12490A>T (p.Arg4164Trp)
c.12469A>T (p.Arg4157Trp)
c.12463A>T (p.Arg4155Trp)
c.12457A>T (p.Arg4153Trp)
c.12433A>T (p.Arg4145Trp)
c.12256A>T (p.Arg4086Trp)
c.12400A>T (p.Arg4134Trp)
c.12472A>T (p.Arg4158Trp)
1g.237784151dupCA2698436138RYR2c.*3531dup (n.*3531dup)
c.12427dup (p.Arg4143LysfsTer5)
c.12460dup (p.Arg4154LysfsTer5)
c.4616dup
c.12439dup (p.Arg4147LysfsTer5)
c.2492dup
c.12391dup (p.Arg4131LysfsTer5)
n.3634dup
c.12493dup (p.Arg4165LysfsTer5)
c.12490dup (p.Arg4164LysfsTer5)
c.12469dup (p.Arg4157LysfsTer5)
c.12463dup (p.Arg4155LysfsTer5)
c.12457dup (p.Arg4153LysfsTer5)
c.12433dup (p.Arg4145LysfsTer5)
c.12256dup (p.Arg4086LysfsTer5)
c.12400dup (p.Arg4134LysfsTer5)
c.12472dup (p.Arg4158LysfsTer5)
 dbSNP
1g.237784152G>ACA345413259RYR2c.*3532G>A (n.*3532G>A)
c.12428G>A (p.Arg4143Lys)
c.12461G>A (p.Arg4154Lys)
c.4617G>A
c.12440G>A (p.Arg4147Lys)
c.2493G>A
c.12392G>A (p.Arg4131Lys)
n.3635G>A
c.12494G>A (p.Arg4165Lys)
c.12491G>A (p.Arg4164Lys)
c.12470G>A (p.Arg4157Lys)
c.12464G>A (p.Arg4155Lys)
c.12458G>A (p.Arg4153Lys)
c.12434G>A (p.Arg4145Lys)
c.12257G>A (p.Arg4086Lys)
c.12401G>A (p.Arg4134Lys)
c.12473G>A (p.Arg4158Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.237784152G>CCA345413262RYR2c.*3532G>C (n.*3532G>C)
c.12428G>C (p.Arg4143Thr)
c.12461G>C (p.Arg4154Thr)
c.4617G>C
c.12440G>C (p.Arg4147Thr)
c.2493G>C
c.12392G>C (p.Arg4131Thr)
n.3635G>C
c.12494G>C (p.Arg4165Thr)
c.12491G>C (p.Arg4164Thr)
c.12470G>C (p.Arg4157Thr)
c.12464G>C (p.Arg4155Thr)
c.12458G>C (p.Arg4153Thr)
c.12434G>C (p.Arg4145Thr)
c.12257G>C (p.Arg4086Thr)
c.12401G>C (p.Arg4134Thr)
c.12473G>C (p.Arg4158Thr)
 gnomAD v4
1g.237784152G=CA2487482407RYR2c.*3532G= (n.*3532G=)
c.12428G= (p.Arg4143=)
c.12461G= (p.Arg4154=)
c.4617G=
c.12440G= (p.Arg4147=)
c.2493G=
c.12392G= (p.Arg4131=)
n.3635G=
c.12494G= (p.Arg4165=)
c.12491G= (p.Arg4164=)
c.12470G= (p.Arg4157=)
c.12464G= (p.Arg4155=)
c.12458G= (p.Arg4153=)
c.12434G= (p.Arg4145=)
c.12257G= (p.Arg4086=)
c.12401G= (p.Arg4134=)
c.12473G= (p.Arg4158=)
1g.237784152G>TCA345413260RYR2c.*3532G>T (n.*3532G>T)
c.12428G>T (p.Arg4143Met)
c.12461G>T (p.Arg4154Met)
c.4617G>T
c.12440G>T (p.Arg4147Met)
c.2493G>T
c.12392G>T (p.Arg4131Met)
n.3635G>T
c.12494G>T (p.Arg4165Met)
c.12491G>T (p.Arg4164Met)
c.12470G>T (p.Arg4157Met)
c.12464G>T (p.Arg4155Met)
c.12458G>T (p.Arg4153Met)
c.12434G>T (p.Arg4145Met)
c.12257G>T (p.Arg4086Met)
c.12401G>T (p.Arg4134Met)
c.12473G>T (p.Arg4158Met)
1g.237784153G>ACA424032197RYR2c.*3533G>A (n.*3533G>A)
c.12429G>A (p.Arg4143=)
c.12462G>A (p.Arg4154=)
c.4618G>A
c.12441G>A (p.Arg4147=)
c.2494G>A
c.12393G>A (p.Arg4131=)
n.3636G>A
c.12495G>A (p.Arg4165=)
c.12492G>A (p.Arg4164=)
c.12471G>A (p.Arg4157=)
c.12465G>A (p.Arg4155=)
c.12459G>A (p.Arg4153=)
c.12435G>A (p.Arg4145=)
c.12258G>A (p.Arg4086=)
c.12402G>A (p.Arg4134=)
c.12474G>A (p.Arg4158=)
 dbSNP COSMIC COSMIC
1g.237784153G>CCA345413264RYR2c.*3533G>C (n.*3533G>C)
c.12429G>C (p.Arg4143Ser)
c.12462G>C (p.Arg4154Ser)
c.4618G>C
c.12441G>C (p.Arg4147Ser)
c.2494G>C
c.12393G>C (p.Arg4131Ser)
n.3636G>C
c.12495G>C (p.Arg4165Ser)
c.12492G>C (p.Arg4164Ser)
c.12471G>C (p.Arg4157Ser)
c.12465G>C (p.Arg4155Ser)
c.12459G>C (p.Arg4153Ser)
c.12435G>C (p.Arg4145Ser)
c.12258G>C (p.Arg4086Ser)
c.12402G>C (p.Arg4134Ser)
c.12474G>C (p.Arg4158Ser)
 COSMIC COSMIC
1g.237784153G>TCA345413266RYR2c.*3533G>T (n.*3533G>T)
c.12429G>T (p.Arg4143Ser)
c.12462G>T (p.Arg4154Ser)
c.4618G>T
c.12441G>T (p.Arg4147Ser)
c.2494G>T
c.12393G>T (p.Arg4131Ser)
n.3636G>T
c.12495G>T (p.Arg4165Ser)
c.12492G>T (p.Arg4164Ser)
c.12471G>T (p.Arg4157Ser)
c.12465G>T (p.Arg4155Ser)
c.12459G>T (p.Arg4153Ser)
c.12435G>T (p.Arg4145Ser)
c.12258G>T (p.Arg4086Ser)
c.12402G>T (p.Arg4134Ser)
c.12474G>T (p.Arg4158Ser)
1g.237784154G>ACA345413268RYR2c.*3534G>A (n.*3534G>A)
c.12430G>A (p.Val4144Ile)
c.12463G>A (p.Val4155Ile)
c.4619G>A
c.12442G>A (p.Val4148Ile)
c.2495G>A
c.12394G>A (p.Val4132Ile)
n.3637G>A
c.12496G>A (p.Val4166Ile)
c.12493G>A (p.Val4165Ile)
c.12472G>A (p.Val4158Ile)
c.12466G>A (p.Val4156Ile)
c.12460G>A (p.Val4154Ile)
c.12436G>A (p.Val4146Ile)
c.12259G>A (p.Val4087Ile)
c.12403G>A (p.Val4135Ile)
c.12475G>A (p.Val4159Ile)
1g.237784154G>CCA345413270RYR2c.*3534G>C (n.*3534G>C)
c.12430G>C (p.Val4144Leu)
c.12463G>C (p.Val4155Leu)
c.4619G>C
c.12442G>C (p.Val4148Leu)
c.2495G>C
c.12394G>C (p.Val4132Leu)
n.3637G>C
c.12496G>C (p.Val4166Leu)
c.12493G>C (p.Val4165Leu)
c.12472G>C (p.Val4158Leu)
c.12466G>C (p.Val4156Leu)
c.12460G>C (p.Val4154Leu)
c.12436G>C (p.Val4146Leu)
c.12259G>C (p.Val4087Leu)
c.12403G>C (p.Val4135Leu)
c.12475G>C (p.Val4159Leu)
1g.237784154G>TCA345413271RYR2c.*3534G>T (n.*3534G>T)
c.12430G>T (p.Val4144Phe)
c.12463G>T (p.Val4155Phe)
c.4619G>T
c.12442G>T (p.Val4148Phe)
c.2495G>T
c.12394G>T (p.Val4132Phe)
n.3637G>T
c.12496G>T (p.Val4166Phe)
c.12493G>T (p.Val4165Phe)
c.12472G>T (p.Val4158Phe)
c.12466G>T (p.Val4156Phe)
c.12460G>T (p.Val4154Phe)
c.12436G>T (p.Val4146Phe)
c.12259G>T (p.Val4087Phe)
c.12403G>T (p.Val4135Phe)
c.12475G>T (p.Val4159Phe)
1g.237784155T>ACA345413274RYR2c.*3535T>A (n.*3535T>A)
c.12431T>A (p.Val4144Asp)
c.12464T>A (p.Val4155Asp)
c.4620T>A
c.12443T>A (p.Val4148Asp)
c.2496T>A
c.12395T>A (p.Val4132Asp)
n.3638T>A
c.12497T>A (p.Val4166Asp)
c.12494T>A (p.Val4165Asp)
c.12473T>A (p.Val4158Asp)
c.12467T>A (p.Val4156Asp)
c.12461T>A (p.Val4154Asp)
c.12437T>A (p.Val4146Asp)
c.12260T>A (p.Val4087Asp)
c.12404T>A (p.Val4135Asp)
c.12476T>A (p.Val4159Asp)
1g.237784155T>CCA345413279RYR2c.*3535T>C (n.*3535T>C)
c.12431T>C (p.Val4144Ala)
c.12464T>C (p.Val4155Ala)
c.4620T>C
c.12443T>C (p.Val4148Ala)
c.2496T>C
c.12395T>C (p.Val4132Ala)
n.3638T>C
c.12497T>C (p.Val4166Ala)
c.12494T>C (p.Val4165Ala)
c.12473T>C (p.Val4158Ala)
c.12467T>C (p.Val4156Ala)
c.12461T>C (p.Val4154Ala)
c.12437T>C (p.Val4146Ala)
c.12260T>C (p.Val4087Ala)
c.12404T>C (p.Val4135Ala)
c.12476T>C (p.Val4159Ala)
1g.237784155T>GCA345413280RYR2c.*3535T>G (n.*3535T>G)
c.12431T>G (p.Val4144Gly)
c.12464T>G (p.Val4155Gly)
c.4620T>G
c.12443T>G (p.Val4148Gly)
c.2496T>G
c.12395T>G (p.Val4132Gly)
n.3638T>G
c.12497T>G (p.Val4166Gly)
c.12494T>G (p.Val4165Gly)
c.12473T>G (p.Val4158Gly)
c.12467T>G (p.Val4156Gly)
c.12461T>G (p.Val4154Gly)
c.12437T>G (p.Val4146Gly)
c.12260T>G (p.Val4087Gly)
c.12404T>G (p.Val4135Gly)
c.12476T>G (p.Val4159Gly)
1g.237784156C>ACA424032199RYR2c.*3536C>A (n.*3536C>A)
c.12432C>A (p.Val4144=)
c.12465C>A (p.Val4155=)
c.4621C>A
c.12444C>A (p.Val4148=)
c.2497C>A
c.12396C>A (p.Val4132=)
n.3639C>A
c.12498C>A (p.Val4166=)
c.12495C>A (p.Val4165=)
c.12474C>A (p.Val4158=)
c.12468C>A (p.Val4156=)
c.12462C>A (p.Val4154=)
c.12438C>A (p.Val4146=)
c.12261C>A (p.Val4087=)
c.12405C>A (p.Val4135=)
c.12477C>A (p.Val4159=)
 COSMIC COSMIC
1g.237784156C>GCA424032200RYR2c.*3536C>G (n.*3536C>G)
c.12432C>G (p.Val4144=)
c.12465C>G (p.Val4155=)
c.4621C>G
c.12444C>G (p.Val4148=)
c.2497C>G
c.12396C>G (p.Val4132=)
n.3639C>G
c.12498C>G (p.Val4166=)
c.12495C>G (p.Val4165=)
c.12474C>G (p.Val4158=)
c.12468C>G (p.Val4156=)
c.12462C>G (p.Val4154=)
c.12438C>G (p.Val4146=)
c.12261C>G (p.Val4087=)
c.12405C>G (p.Val4135=)
c.12477C>G (p.Val4159=)
1g.237784156C>TCA424032201RYR2c.*3536C>T (n.*3536C>T)
c.12432C>T (p.Val4144=)
c.12465C>T (p.Val4155=)
c.4621C>T
c.12444C>T (p.Val4148=)
c.2497C>T
c.12396C>T (p.Val4132=)
n.3639C>T
c.12498C>T (p.Val4166=)
c.12495C>T (p.Val4165=)
c.12474C>T (p.Val4158=)
c.12468C>T (p.Val4156=)
c.12462C>T (p.Val4154=)
c.12438C>T (p.Val4146=)
c.12261C>T (p.Val4087=)
c.12405C>T (p.Val4135=)
c.12477C>T (p.Val4159=)
 gnomAD v4
1g.237784157T>ACA345413281RYR2c.*3537T>A (n.*3537T>A)
c.12433T>A (p.Tyr4145Asn)
c.12466T>A (p.Tyr4156Asn)
c.4622T>A
c.12445T>A (p.Tyr4149Asn)
c.2498T>A
c.12397T>A (p.Tyr4133Asn)
n.3640T>A
c.12499T>A (p.Tyr4167Asn)
c.12496T>A (p.Tyr4166Asn)
c.12475T>A (p.Tyr4159Asn)
c.12469T>A (p.Tyr4157Asn)
c.12463T>A (p.Tyr4155Asn)
c.12439T>A (p.Tyr4147Asn)
c.12262T>A (p.Tyr4088Asn)
c.12406T>A (p.Tyr4136Asn)
c.12478T>A (p.Tyr4160Asn)
1g.237784157T>CCA345413282RYR2c.*3537T>C (n.*3537T>C)
c.12433T>C (p.Tyr4145His)
c.12466T>C (p.Tyr4156His)
c.4622T>C
c.12445T>C (p.Tyr4149His)
c.2498T>C
c.12397T>C (p.Tyr4133His)
n.3640T>C
c.12499T>C (p.Tyr4167His)
c.12496T>C (p.Tyr4166His)
c.12475T>C (p.Tyr4159His)
c.12469T>C (p.Tyr4157His)
c.12463T>C (p.Tyr4155His)
c.12439T>C (p.Tyr4147His)
c.12262T>C (p.Tyr4088His)
c.12406T>C (p.Tyr4136His)
c.12478T>C (p.Tyr4160His)
1g.237784157T>GCA345413283RYR2c.*3537T>G (n.*3537T>G)
c.12433T>G (p.Tyr4145Asp)
c.12466T>G (p.Tyr4156Asp)
c.4622T>G
c.12445T>G (p.Tyr4149Asp)
c.2498T>G
c.12397T>G (p.Tyr4133Asp)
n.3640T>G
c.12499T>G (p.Tyr4167Asp)
c.12496T>G (p.Tyr4166Asp)
c.12475T>G (p.Tyr4159Asp)
c.12469T>G (p.Tyr4157Asp)
c.12463T>G (p.Tyr4155Asp)
c.12439T>G (p.Tyr4147Asp)
c.12262T>G (p.Tyr4088Asp)
c.12406T>G (p.Tyr4136Asp)
c.12478T>G (p.Tyr4160Asp)
1g.237784158A=CA2487482408RYR2c.*3538A= (n.*3538A=)
c.12434A= (p.Tyr4145=)
c.12467A= (p.Tyr4156=)
c.4623A=
c.12446A= (p.Tyr4149=)
c.2499A=
c.12398A= (p.Tyr4133=)
n.3641A=
c.12500A= (p.Tyr4167=)
c.12497A= (p.Tyr4166=)
c.12476A= (p.Tyr4159=)
c.12470A= (p.Tyr4157=)
c.12464A= (p.Tyr4155=)
c.12440A= (p.Tyr4147=)
c.12263A= (p.Tyr4088=)
c.12407A= (p.Tyr4136=)
c.12479A= (p.Tyr4160=)
1g.237784158A>CCA345413284RYR2c.*3538A>C (n.*3538A>C)
c.12434A>C (p.Tyr4145Ser)
c.12467A>C (p.Tyr4156Ser)
c.4623A>C
c.12446A>C (p.Tyr4149Ser)
c.2499A>C
c.12398A>C (p.Tyr4133Ser)
n.3641A>C
c.12500A>C (p.Tyr4167Ser)
c.12497A>C (p.Tyr4166Ser)
c.12476A>C (p.Tyr4159Ser)
c.12470A>C (p.Tyr4157Ser)
c.12464A>C (p.Tyr4155Ser)
c.12440A>C (p.Tyr4147Ser)
c.12263A>C (p.Tyr4088Ser)
c.12407A>C (p.Tyr4136Ser)
c.12479A>C (p.Tyr4160Ser)
1g.237784158A>GCA345413286RYR2c.*3538A>G (n.*3538A>G)
c.12434A>G (p.Tyr4145Cys)
c.12467A>G (p.Tyr4156Cys)
c.4623A>G
c.12446A>G (p.Tyr4149Cys)
c.2499A>G
c.12398A>G (p.Tyr4133Cys)
n.3641A>G
c.12500A>G (p.Tyr4167Cys)
c.12497A>G (p.Tyr4166Cys)
c.12476A>G (p.Tyr4159Cys)
c.12470A>G (p.Tyr4157Cys)
c.12464A>G (p.Tyr4155Cys)
c.12440A>G (p.Tyr4147Cys)
c.12263A>G (p.Tyr4088Cys)
c.12407A>G (p.Tyr4136Cys)
c.12479A>G (p.Tyr4160Cys)
 ClinVar dbSNP
1g.237784158A>TCA345413285RYR2c.*3538A>T (n.*3538A>T)
c.12434A>T (p.Tyr4145Phe)
c.12467A>T (p.Tyr4156Phe)
c.4623A>T
c.12446A>T (p.Tyr4149Phe)
c.2499A>T
c.12398A>T (p.Tyr4133Phe)
n.3641A>T
c.12500A>T (p.Tyr4167Phe)
c.12497A>T (p.Tyr4166Phe)
c.12476A>T (p.Tyr4159Phe)
c.12470A>T (p.Tyr4157Phe)
c.12464A>T (p.Tyr4155Phe)
c.12440A>T (p.Tyr4147Phe)
c.12263A>T (p.Tyr4088Phe)
c.12407A>T (p.Tyr4136Phe)
c.12479A>T (p.Tyr4160Phe)
1g.237784159T>ACA345413287RYR2c.*3539T>A (n.*3539T>A)
c.12435T>A (p.Tyr4145Ter)
c.12468T>A (p.Tyr4156Ter)
c.4624T>A
c.12447T>A (p.Tyr4149Ter)
c.2500T>A
c.12399T>A (p.Tyr4133Ter)
n.3642T>A
c.12501T>A (p.Tyr4167Ter)
c.12498T>A (p.Tyr4166Ter)
c.12477T>A (p.Tyr4159Ter)
c.12471T>A (p.Tyr4157Ter)
c.12465T>A (p.Tyr4155Ter)
c.12441T>A (p.Tyr4147Ter)
c.12264T>A (p.Tyr4088Ter)
c.12408T>A (p.Tyr4136Ter)
c.12480T>A (p.Tyr4160Ter)
1g.237784159T>CCA424032204RYR2c.*3539T>C (n.*3539T>C)
c.12435T>C (p.Tyr4145=)
c.12468T>C (p.Tyr4156=)
c.4624T>C
c.12447T>C (p.Tyr4149=)
c.2500T>C
c.12399T>C (p.Tyr4133=)
n.3642T>C
c.12501T>C (p.Tyr4167=)
c.12498T>C (p.Tyr4166=)
c.12477T>C (p.Tyr4159=)
c.12471T>C (p.Tyr4157=)
c.12465T>C (p.Tyr4155=)
c.12441T>C (p.Tyr4147=)
c.12264T>C (p.Tyr4088=)
c.12408T>C (p.Tyr4136=)
c.12480T>C (p.Tyr4160=)
 ClinVar dbSNP gnomAD v4
1g.237784159T>GCA345413288RYR2c.*3539T>G (n.*3539T>G)
c.12435T>G (p.Tyr4145Ter)
c.12468T>G (p.Tyr4156Ter)
c.4624T>G
c.12447T>G (p.Tyr4149Ter)
c.2500T>G
c.12399T>G (p.Tyr4133Ter)
n.3642T>G
c.12501T>G (p.Tyr4167Ter)
c.12498T>G (p.Tyr4166Ter)
c.12477T>G (p.Tyr4159Ter)
c.12471T>G (p.Tyr4157Ter)
c.12465T>G (p.Tyr4155Ter)
c.12441T>G (p.Tyr4147Ter)
c.12264T>G (p.Tyr4088Ter)
c.12408T>G (p.Tyr4136Ter)
c.12480T>G (p.Tyr4160Ter)
1g.237784160T>ACA345413291RYR2c.*3540T>A (n.*3540T>A)
c.12436T>A (p.Phe4146Ile)
c.12469T>A (p.Phe4157Ile)
c.4625T>A
c.12448T>A (p.Phe4150Ile)
c.2501T>A
c.12400T>A (p.Phe4134Ile)
n.3643T>A
c.12502T>A (p.Phe4168Ile)
c.12499T>A (p.Phe4167Ile)
c.12478T>A (p.Phe4160Ile)
c.12472T>A (p.Phe4158Ile)
c.12466T>A (p.Phe4156Ile)
c.12442T>A (p.Phe4148Ile)
c.12265T>A (p.Phe4089Ile)
c.12409T>A (p.Phe4137Ile)
c.12481T>A (p.Phe4161Ile)
1g.237784160T>CCA345413293RYR2c.*3540T>C (n.*3540T>C)
c.12436T>C (p.Phe4146Leu)
c.12469T>C (p.Phe4157Leu)
c.4625T>C
c.12448T>C (p.Phe4150Leu)
c.2501T>C
c.12400T>C (p.Phe4134Leu)
n.3643T>C
c.12502T>C (p.Phe4168Leu)
c.12499T>C (p.Phe4167Leu)
c.12478T>C (p.Phe4160Leu)
c.12472T>C (p.Phe4158Leu)
c.12466T>C (p.Phe4156Leu)
c.12442T>C (p.Phe4148Leu)
c.12265T>C (p.Phe4089Leu)
c.12409T>C (p.Phe4137Leu)
c.12481T>C (p.Phe4161Leu)
 gnomAD v4
1g.237784160T>GCA345413295RYR2c.*3540T>G (n.*3540T>G)
c.12436T>G (p.Phe4146Val)
c.12469T>G (p.Phe4157Val)
c.4625T>G
c.12448T>G (p.Phe4150Val)
c.2501T>G
c.12400T>G (p.Phe4134Val)
n.3643T>G
c.12502T>G (p.Phe4168Val)
c.12499T>G (p.Phe4167Val)
c.12478T>G (p.Phe4160Val)
c.12472T>G (p.Phe4158Val)
c.12466T>G (p.Phe4156Val)
c.12442T>G (p.Phe4148Val)
c.12265T>G (p.Phe4089Val)
c.12409T>G (p.Phe4137Val)
c.12481T>G (p.Phe4161Val)
1g.237784161T>ACA345413297RYR2c.*3541T>A (n.*3541T>A)
c.12437T>A (p.Phe4146Tyr)
c.12470T>A (p.Phe4157Tyr)
c.4626T>A
c.12449T>A (p.Phe4150Tyr)
c.2502T>A
c.12401T>A (p.Phe4134Tyr)
n.3644T>A
c.12503T>A (p.Phe4168Tyr)
c.12500T>A (p.Phe4167Tyr)
c.12479T>A (p.Phe4160Tyr)
c.12473T>A (p.Phe4158Tyr)
c.12467T>A (p.Phe4156Tyr)
c.12443T>A (p.Phe4148Tyr)
c.12266T>A (p.Phe4089Tyr)
c.12410T>A (p.Phe4137Tyr)
c.12482T>A (p.Phe4161Tyr)
1g.237784161T>CCA345413298RYR2c.*3541T>C (n.*3541T>C)
c.12437T>C (p.Phe4146Ser)
c.12470T>C (p.Phe4157Ser)
c.4626T>C
c.12449T>C (p.Phe4150Ser)
c.2502T>C
c.12401T>C (p.Phe4134Ser)
n.3644T>C
c.12503T>C (p.Phe4168Ser)
c.12500T>C (p.Phe4167Ser)
c.12479T>C (p.Phe4160Ser)
c.12473T>C (p.Phe4158Ser)
c.12467T>C (p.Phe4156Ser)
c.12443T>C (p.Phe4148Ser)
c.12266T>C (p.Phe4089Ser)
c.12410T>C (p.Phe4137Ser)
c.12482T>C (p.Phe4161Ser)
1g.237784161T>GCA345413300RYR2c.*3541T>G (n.*3541T>G)
c.12437T>G (p.Phe4146Cys)
c.12470T>G (p.Phe4157Cys)
c.4626T>G
c.12449T>G (p.Phe4150Cys)
c.2502T>G
c.12401T>G (p.Phe4134Cys)
n.3644T>G
c.12503T>G (p.Phe4168Cys)
c.12500T>G (p.Phe4167Cys)
c.12479T>G (p.Phe4160Cys)
c.12473T>G (p.Phe4158Cys)
c.12467T>G (p.Phe4156Cys)
c.12443T>G (p.Phe4148Cys)
c.12266T>G (p.Phe4089Cys)
c.12410T>G (p.Phe4137Cys)
c.12482T>G (p.Phe4161Cys)
1g.237784162T>ACA345413302RYR2c.*3542T>A (n.*3542T>A)
c.12438T>A (p.Phe4146Leu)
c.12471T>A (p.Phe4157Leu)
c.4627T>A
c.12450T>A (p.Phe4150Leu)
c.2503T>A
c.12402T>A (p.Phe4134Leu)
n.3645T>A
c.12504T>A (p.Phe4168Leu)
c.12501T>A (p.Phe4167Leu)
c.12480T>A (p.Phe4160Leu)
c.12474T>A (p.Phe4158Leu)
c.12468T>A (p.Phe4156Leu)
c.12444T>A (p.Phe4148Leu)
c.12267T>A (p.Phe4089Leu)
c.12411T>A (p.Phe4137Leu)
c.12483T>A (p.Phe4161Leu)
1g.237784162T>CCA424032206RYR2c.*3542T>C (n.*3542T>C)
c.12438T>C (p.Phe4146=)
c.12471T>C (p.Phe4157=)
c.4627T>C
c.12450T>C (p.Phe4150=)
c.2503T>C
c.12402T>C (p.Phe4134=)
n.3645T>C
c.12504T>C (p.Phe4168=)
c.12501T>C (p.Phe4167=)
c.12480T>C (p.Phe4160=)
c.12474T>C (p.Phe4158=)
c.12468T>C (p.Phe4156=)
c.12444T>C (p.Phe4148=)
c.12267T>C (p.Phe4089=)
c.12411T>C (p.Phe4137=)
c.12483T>C (p.Phe4161=)
1g.237784162T>GCA345413304RYR2c.*3542T>G (n.*3542T>G)
c.12438T>G (p.Phe4146Leu)
c.12471T>G (p.Phe4157Leu)
c.4627T>G
c.12450T>G (p.Phe4150Leu)
c.2503T>G
c.12402T>G (p.Phe4134Leu)
n.3645T>G
c.12504T>G (p.Phe4168Leu)
c.12501T>G (p.Phe4167Leu)
c.12480T>G (p.Phe4160Leu)
c.12474T>G (p.Phe4158Leu)
c.12468T>G (p.Phe4156Leu)
c.12444T>G (p.Phe4148Leu)
c.12267T>G (p.Phe4089Leu)
c.12411T>G (p.Phe4137Leu)
c.12483T>G (p.Phe4161Leu)
1g.237784163G>ACA345413307RYR2c.*3543G>A (n.*3543G>A)
c.12439G>A (p.Glu4147Lys)
c.12472G>A (p.Glu4158Lys)
c.4628G>A
c.12451G>A (p.Glu4151Lys)
c.2504G>A
c.12403G>A (p.Glu4135Lys)
n.3646G>A
c.12505G>A (p.Glu4169Lys)
c.12502G>A (p.Glu4168Lys)
c.12481G>A (p.Glu4161Lys)
c.12475G>A (p.Glu4159Lys)
c.12469G>A (p.Glu4157Lys)
c.12445G>A (p.Glu4149Lys)
c.12268G>A (p.Glu4090Lys)
c.12412G>A (p.Glu4138Lys)
c.12484G>A (p.Glu4162Lys)
1g.237784163G>CCA345413308RYR2c.*3543G>C (n.*3543G>C)
c.12439G>C (p.Glu4147Gln)
c.12472G>C (p.Glu4158Gln)
c.4628G>C
c.12451G>C (p.Glu4151Gln)
c.2504G>C
c.12403G>C (p.Glu4135Gln)
n.3646G>C
c.12505G>C (p.Glu4169Gln)
c.12502G>C (p.Glu4168Gln)
c.12481G>C (p.Glu4161Gln)
c.12475G>C (p.Glu4159Gln)
c.12469G>C (p.Glu4157Gln)
c.12445G>C (p.Glu4149Gln)
c.12268G>C (p.Glu4090Gln)
c.12412G>C (p.Glu4138Gln)
c.12484G>C (p.Glu4162Gln)
1g.237784163G>TCA345413309RYR2c.*3543G>T (n.*3543G>T)
c.12439G>T (p.Glu4147Ter)
c.12472G>T (p.Glu4158Ter)
c.4628G>T
c.12451G>T (p.Glu4151Ter)
c.2504G>T
c.12403G>T (p.Glu4135Ter)
n.3646G>T
c.12505G>T (p.Glu4169Ter)
c.12502G>T (p.Glu4168Ter)
c.12481G>T (p.Glu4161Ter)
c.12475G>T (p.Glu4159Ter)
c.12469G>T (p.Glu4157Ter)
c.12445G>T (p.Glu4149Ter)
c.12268G>T (p.Glu4090Ter)
c.12412G>T (p.Glu4138Ter)
c.12484G>T (p.Glu4162Ter)
 gnomAD v4
1g.237784163_237784164delinsGACA2487482409RYR2c.*3543_*3544delinsGA (n.*3543_*3544delinsGA)
c.12439_12440delinsGA (p.Glu4147=)
c.12472_12473delinsGA (p.Glu4158=)
c.4628_4629delinsGA
c.12451_12452delinsGA (p.Glu4151=)
c.2504_2505delinsGA
c.12403_12404delinsGA (p.Glu4135=)
n.3646_3647delinsGA
c.12505_12506delinsGA (p.Glu4169=)
c.12502_12503delinsGA (p.Glu4168=)
c.12481_12482delinsGA (p.Glu4161=)
c.12475_12476delinsGA (p.Glu4159=)
c.12469_12470delinsGA (p.Glu4157=)
c.12445_12446delinsGA (p.Glu4149=)
c.12268_12269delinsGA (p.Glu4090=)
c.12412_12413delinsGA (p.Glu4138=)
c.12484_12485delinsGA (p.Glu4162=)
1g.237784164A>CCA345413313RYR2c.*3544A>C (n.*3544A>C)
c.12440A>C (p.Glu4147Ala)
c.12473A>C (p.Glu4158Ala)
c.4629A>C
c.12452A>C (p.Glu4151Ala)
c.2505A>C
c.12404A>C (p.Glu4135Ala)
n.3647A>C
c.12506A>C (p.Glu4169Ala)
c.12503A>C (p.Glu4168Ala)
c.12482A>C (p.Glu4161Ala)
c.12476A>C (p.Glu4159Ala)
c.12470A>C (p.Glu4157Ala)
c.12446A>C (p.Glu4149Ala)
c.12269A>C (p.Glu4090Ala)
c.12413A>C (p.Glu4138Ala)
c.12485A>C (p.Glu4162Ala)
1g.237784164A>GCA345413311RYR2c.*3544A>G (n.*3544A>G)
c.12440A>G (p.Glu4147Gly)
c.12473A>G (p.Glu4158Gly)
c.4629A>G
c.12452A>G (p.Glu4151Gly)
c.2505A>G
c.12404A>G (p.Glu4135Gly)
n.3647A>G
c.12506A>G (p.Glu4169Gly)
c.12503A>G (p.Glu4168Gly)
c.12482A>G (p.Glu4161Gly)
c.12476A>G (p.Glu4159Gly)
c.12470A>G (p.Glu4157Gly)
c.12446A>G (p.Glu4149Gly)
c.12269A>G (p.Glu4090Gly)
c.12413A>G (p.Glu4138Gly)
c.12485A>G (p.Glu4162Gly)
1g.237784164A>TCA345413310RYR2c.*3544A>T (n.*3544A>T)
c.12440A>T (p.Glu4147Val)
c.12473A>T (p.Glu4158Val)
c.4629A>T
c.12452A>T (p.Glu4151Val)
c.2505A>T
c.12404A>T (p.Glu4135Val)
n.3647A>T
c.12506A>T (p.Glu4169Val)
c.12503A>T (p.Glu4168Val)
c.12482A>T (p.Glu4161Val)
c.12476A>T (p.Glu4159Val)
c.12470A>T (p.Glu4157Val)
c.12446A>T (p.Glu4149Val)
c.12269A>T (p.Glu4090Val)
c.12413A>T (p.Glu4138Val)
c.12485A>T (p.Glu4162Val)
1g.237784166delCA2487482410RYR2c.*3546del (n.*3546del)
c.12442del (p.Ile4148SerfsTer?)
c.12475del (p.Ile4159SerfsTer?)
c.4631del
c.12454del (p.Ile4152SerfsTer?)
c.2507del
c.12406del (p.Ile4136SerfsTer?)
n.3649del
c.12508del (p.Ile4170SerfsTer?)
c.12505del (p.Ile4169SerfsTer?)
c.12484del (p.Ile4162SerfsTer?)
c.12478del (p.Ile4160SerfsTer?)
c.12472del (p.Ile4158SerfsTer?)
c.12448del (p.Ile4150SerfsTer?)
c.12271del (p.Ile4091SerfsTer?)
c.12415del (p.Ile4139SerfsTer?)
c.12487del (p.Ile4163SerfsTer?)
 dbSNP
1g.237784165A>CCA345413315RYR2c.*3545A>C (n.*3545A>C)
c.12441A>C (p.Glu4147Asp)
c.12474A>C (p.Glu4158Asp)
c.4630A>C
c.12453A>C (p.Glu4151Asp)
c.2506A>C
c.12405A>C (p.Glu4135Asp)
n.3648A>C
c.12507A>C (p.Glu4169Asp)
c.12504A>C (p.Glu4168Asp)
c.12483A>C (p.Glu4161Asp)
c.12477A>C (p.Glu4159Asp)
c.12471A>C (p.Glu4157Asp)
c.12447A>C (p.Glu4149Asp)
c.12270A>C (p.Glu4090Asp)
c.12414A>C (p.Glu4138Asp)
c.12486A>C (p.Glu4162Asp)
1g.237784165A>GCA424032207RYR2c.*3545A>G (n.*3545A>G)
c.12441A>G (p.Glu4147=)
c.12474A>G (p.Glu4158=)
c.4630A>G
c.12453A>G (p.Glu4151=)
c.2506A>G
c.12405A>G (p.Glu4135=)
n.3648A>G
c.12507A>G (p.Glu4169=)
c.12504A>G (p.Glu4168=)
c.12483A>G (p.Glu4161=)
c.12477A>G (p.Glu4159=)
c.12471A>G (p.Glu4157=)
c.12447A>G (p.Glu4149=)
c.12270A>G (p.Glu4090=)
c.12414A>G (p.Glu4138=)
c.12486A>G (p.Glu4162=)
1g.237784165A>TCA345413317RYR2c.*3545A>T (n.*3545A>T)
c.12441A>T (p.Glu4147Asp)
c.12474A>T (p.Glu4158Asp)
c.4630A>T
c.12453A>T (p.Glu4151Asp)
c.2506A>T
c.12405A>T (p.Glu4135Asp)
n.3648A>T
c.12507A>T (p.Glu4169Asp)
c.12504A>T (p.Glu4168Asp)
c.12483A>T (p.Glu4161Asp)
c.12477A>T (p.Glu4159Asp)
c.12471A>T (p.Glu4157Asp)
c.12447A>T (p.Glu4149Asp)
c.12270A>T (p.Glu4090Asp)
c.12414A>T (p.Glu4138Asp)
c.12486A>T (p.Glu4162Asp)
1g.237784166A>CCA345413320RYR2c.*3546A>C (n.*3546A>C)
c.12442A>C (p.Ile4148Leu)
c.12475A>C (p.Ile4159Leu)
c.4631A>C
c.12454A>C (p.Ile4152Leu)
c.2507A>C
c.12406A>C (p.Ile4136Leu)
n.3649A>C
c.12508A>C (p.Ile4170Leu)
c.12505A>C (p.Ile4169Leu)
c.12484A>C (p.Ile4162Leu)
c.12478A>C (p.Ile4160Leu)
c.12472A>C (p.Ile4158Leu)
c.12448A>C (p.Ile4150Leu)
c.12271A>C (p.Ile4091Leu)
c.12415A>C (p.Ile4139Leu)
c.12487A>C (p.Ile4163Leu)
 ClinVar dbSNP
1g.237784166A>GCA345413321RYR2c.*3546A>G (n.*3546A>G)
c.12442A>G (p.Ile4148Val)
c.12475A>G (p.Ile4159Val)
c.4631A>G
c.12454A>G (p.Ile4152Val)
c.2507A>G
c.12406A>G (p.Ile4136Val)
n.3649A>G
c.12508A>G (p.Ile4170Val)
c.12505A>G (p.Ile4169Val)
c.12484A>G (p.Ile4162Val)
c.12478A>G (p.Ile4160Val)
c.12472A>G (p.Ile4158Val)
c.12448A>G (p.Ile4150Val)
c.12271A>G (p.Ile4091Val)
c.12415A>G (p.Ile4139Val)
c.12487A>G (p.Ile4163Val)
 gnomAD v4
1g.237784166A>TCA345413322RYR2c.*3546A>T (n.*3546A>T)
c.12442A>T (p.Ile4148Phe)
c.12475A>T (p.Ile4159Phe)
c.4631A>T
c.12454A>T (p.Ile4152Phe)
c.2507A>T
c.12406A>T (p.Ile4136Phe)
n.3649A>T
c.12508A>T (p.Ile4170Phe)
c.12505A>T (p.Ile4169Phe)
c.12484A>T (p.Ile4162Phe)
c.12478A>T (p.Ile4160Phe)
c.12472A>T (p.Ile4158Phe)
c.12448A>T (p.Ile4150Phe)
c.12271A>T (p.Ile4091Phe)
c.12415A>T (p.Ile4139Phe)
c.12487A>T (p.Ile4163Phe)
1g.237784167T>ACA345413323RYR2c.*3547T>A (n.*3547T>A)
c.12443T>A (p.Ile4148Asn)
c.12476T>A (p.Ile4159Asn)
c.4632T>A
c.12455T>A (p.Ile4152Asn)
c.2508T>A
c.12407T>A (p.Ile4136Asn)
n.3650T>A
c.12509T>A (p.Ile4170Asn)
c.12506T>A (p.Ile4169Asn)
c.12485T>A (p.Ile4162Asn)
c.12479T>A (p.Ile4160Asn)
c.12473T>A (p.Ile4158Asn)
c.12449T>A (p.Ile4150Asn)
c.12272T>A (p.Ile4091Asn)
c.12416T>A (p.Ile4139Asn)
c.12488T>A (p.Ile4163Asn)
 ClinVar dbSNP
1g.237784167T>CCA345413324RYR2c.*3547T>C (n.*3547T>C)
c.12443T>C (p.Ile4148Thr)
c.12476T>C (p.Ile4159Thr)
c.4632T>C
c.12455T>C (p.Ile4152Thr)
c.2508T>C
c.12407T>C (p.Ile4136Thr)
n.3650T>C
c.12509T>C (p.Ile4170Thr)
c.12506T>C (p.Ile4169Thr)
c.12485T>C (p.Ile4162Thr)
c.12479T>C (p.Ile4160Thr)
c.12473T>C (p.Ile4158Thr)
c.12449T>C (p.Ile4150Thr)
c.12272T>C (p.Ile4091Thr)
c.12416T>C (p.Ile4139Thr)
c.12488T>C (p.Ile4163Thr)
1g.237784167T>GCA345413326RYR2c.*3547T>G (n.*3547T>G)
c.12443T>G (p.Ile4148Ser)
c.12476T>G (p.Ile4159Ser)
c.4632T>G
c.12455T>G (p.Ile4152Ser)
c.2508T>G
c.12407T>G (p.Ile4136Ser)
n.3650T>G
c.12509T>G (p.Ile4170Ser)
c.12506T>G (p.Ile4169Ser)
c.12485T>G (p.Ile4162Ser)
c.12479T>G (p.Ile4160Ser)
c.12473T>G (p.Ile4158Ser)
c.12449T>G (p.Ile4150Ser)
c.12272T>G (p.Ile4091Ser)
c.12416T>G (p.Ile4139Ser)
c.12488T>G (p.Ile4163Ser)
1g.237784167T=CA2487482411RYR2c.*3547T= (n.*3547T=)
c.12443T= (p.Ile4148=)
c.12476T= (p.Ile4159=)
c.4632T=
c.12455T= (p.Ile4152=)
c.2508T=
c.12407T= (p.Ile4136=)
n.3650T=
c.12509T= (p.Ile4170=)
c.12506T= (p.Ile4169=)
c.12485T= (p.Ile4162=)
c.12479T= (p.Ile4160=)
c.12473T= (p.Ile4158=)
c.12449T= (p.Ile4150=)
c.12272T= (p.Ile4091=)
c.12416T= (p.Ile4139=)
c.12488T= (p.Ile4163=)
1g.237784168C>ACA424032211RYR2c.*3548C>A (n.*3548C>A)
c.12444C>A (p.Ile4148=)
c.12477C>A (p.Ile4159=)
c.4633C>A
c.12456C>A (p.Ile4152=)
c.2509C>A
c.12408C>A (p.Ile4136=)
n.3651C>A
c.12510C>A (p.Ile4170=)
c.12507C>A (p.Ile4169=)
c.12486C>A (p.Ile4162=)
c.12480C>A (p.Ile4160=)
c.12474C>A (p.Ile4158=)
c.12450C>A (p.Ile4150=)
c.12273C>A (p.Ile4091=)
c.12417C>A (p.Ile4139=)
c.12489C>A (p.Ile4163=)
 COSMIC COSMIC
1g.237784168C>GCA345413329RYR2c.*3548C>G (n.*3548C>G)
c.12444C>G (p.Ile4148Met)
c.12477C>G (p.Ile4159Met)
c.4633C>G
c.12456C>G (p.Ile4152Met)
c.2509C>G
c.12408C>G (p.Ile4136Met)
n.3651C>G
c.12510C>G (p.Ile4170Met)
c.12507C>G (p.Ile4169Met)
c.12486C>G (p.Ile4162Met)
c.12480C>G (p.Ile4160Met)
c.12474C>G (p.Ile4158Met)
c.12450C>G (p.Ile4150Met)
c.12273C>G (p.Ile4091Met)
c.12417C>G (p.Ile4139Met)
c.12489C>G (p.Ile4163Met)
1g.237784168C>TCA424032212RYR2c.*3548C>T (n.*3548C>T)
c.12444C>T (p.Ile4148=)
c.12477C>T (p.Ile4159=)
c.4633C>T
c.12456C>T (p.Ile4152=)
c.2509C>T
c.12408C>T (p.Ile4136=)
n.3651C>T
c.12510C>T (p.Ile4170=)
c.12507C>T (p.Ile4169=)
c.12486C>T (p.Ile4162=)
c.12480C>T (p.Ile4160=)
c.12474C>T (p.Ile4158=)
c.12450C>T (p.Ile4150=)
c.12273C>T (p.Ile4091=)
c.12417C>T (p.Ile4139=)
c.12489C>T (p.Ile4163=)
 ClinVar COSMIC COSMIC
1g.237784169A=CA2487482412RYR2c.*3549A= (n.*3549A=)
c.12445A= (p.Ser4149=)
c.12478A= (p.Ser4160=)
c.4634A=
c.12457A= (p.Ser4153=)
c.2510A=
c.12409A= (p.Ser4137=)
n.3652A=
c.12511A= (p.Ser4171=)
c.12508A= (p.Ser4170=)
c.12487A= (p.Ser4163=)
c.12481A= (p.Ser4161=)
c.12475A= (p.Ser4159=)
c.12451A= (p.Ser4151=)
c.12274A= (p.Ser4092=)
c.12418A= (p.Ser4140=)
c.12490A= (p.Ser4164=)
1g.237784169A>CCA345413330RYR2c.*3549A>C (n.*3549A>C)
c.12445A>C (p.Ser4149Arg)
c.12478A>C (p.Ser4160Arg)
c.4634A>C
c.12457A>C (p.Ser4153Arg)
c.2510A>C
c.12409A>C (p.Ser4137Arg)
n.3652A>C
c.12511A>C (p.Ser4171Arg)
c.12508A>C (p.Ser4170Arg)
c.12487A>C (p.Ser4163Arg)
c.12481A>C (p.Ser4161Arg)
c.12475A>C (p.Ser4159Arg)
c.12451A>C (p.Ser4151Arg)
c.12274A>C (p.Ser4092Arg)
c.12418A>C (p.Ser4140Arg)
c.12490A>C (p.Ser4164Arg)
 dbSNP gnomAD v4
1g.237784169A>GCA345413335RYR2c.*3549A>G (n.*3549A>G)
c.12445A>G (p.Ser4149Gly)
c.12478A>G (p.Ser4160Gly)
c.4634A>G
c.12457A>G (p.Ser4153Gly)
c.2510A>G
c.12409A>G (p.Ser4137Gly)
n.3652A>G
c.12511A>G (p.Ser4171Gly)
c.12508A>G (p.Ser4170Gly)
c.12487A>G (p.Ser4163Gly)
c.12481A>G (p.Ser4161Gly)
c.12475A>G (p.Ser4159Gly)
c.12451A>G (p.Ser4151Gly)
c.12274A>G (p.Ser4092Gly)
c.12418A>G (p.Ser4140Gly)
c.12490A>G (p.Ser4164Gly)
1g.237784169A>TCA345413337RYR2c.*3549A>T (n.*3549A>T)
c.12445A>T (p.Ser4149Cys)
c.12478A>T (p.Ser4160Cys)
c.4634A>T
c.12457A>T (p.Ser4153Cys)
c.2510A>T
c.12409A>T (p.Ser4137Cys)
n.3652A>T
c.12511A>T (p.Ser4171Cys)
c.12508A>T (p.Ser4170Cys)
c.12487A>T (p.Ser4163Cys)
c.12481A>T (p.Ser4161Cys)
c.12475A>T (p.Ser4159Cys)
c.12451A>T (p.Ser4151Cys)
c.12274A>T (p.Ser4092Cys)
c.12418A>T (p.Ser4140Cys)
c.12490A>T (p.Ser4164Cys)
1g.237784170G>ACA345413342RYR2c.*3550G>A (n.*3550G>A)
c.12446G>A (p.Ser4149Asn)
c.12479G>A (p.Ser4160Asn)
c.4635G>A
c.12458G>A (p.Ser4153Asn)
c.2511G>A
c.12410G>A (p.Ser4137Asn)
n.3653G>A
c.12512G>A (p.Ser4171Asn)
c.12509G>A (p.Ser4170Asn)
c.12488G>A (p.Ser4163Asn)
c.12482G>A (p.Ser4161Asn)
c.12476G>A (p.Ser4159Asn)
c.12452G>A (p.Ser4151Asn)
c.12275G>A (p.Ser4092Asn)
c.12419G>A (p.Ser4140Asn)
c.12491G>A (p.Ser4164Asn)
 dbSNP COSMIC COSMIC
1g.237784170G>CCA39827643RYR2c.*3550G>C (n.*3550G>C)
c.12446G>C (p.Ser4149Thr)
c.12479G>C (p.Ser4160Thr)
c.4635G>C
c.12458G>C (p.Ser4153Thr)
c.2511G>C
c.12410G>C (p.Ser4137Thr)
n.3653G>C
c.12512G>C (p.Ser4171Thr)
c.12509G>C (p.Ser4170Thr)
c.12488G>C (p.Ser4163Thr)
c.12482G>C (p.Ser4161Thr)
c.12476G>C (p.Ser4159Thr)
c.12452G>C (p.Ser4151Thr)
c.12275G>C (p.Ser4092Thr)
c.12419G>C (p.Ser4140Thr)
c.12491G>C (p.Ser4164Thr)
 ClinVar dbSNP gnomAD v4
1g.237784170G=CA2487482413RYR2c.*3550G= (n.*3550G=)
c.12446G= (p.Ser4149=)
c.12479G= (p.Ser4160=)
c.4635G=
c.12458G= (p.Ser4153=)
c.2511G=
c.12410G= (p.Ser4137=)
n.3653G=
c.12512G= (p.Ser4171=)
c.12509G= (p.Ser4170=)
c.12488G= (p.Ser4163=)
c.12482G= (p.Ser4161=)
c.12476G= (p.Ser4159=)
c.12452G= (p.Ser4151=)
c.12275G= (p.Ser4092=)
c.12419G= (p.Ser4140=)
c.12491G= (p.Ser4164=)
1g.237784170G>TCA345413339RYR2c.*3550G>T (n.*3550G>T)
c.12446G>T (p.Ser4149Ile)
c.12479G>T (p.Ser4160Ile)
c.4635G>T
c.12458G>T (p.Ser4153Ile)
c.2511G>T
c.12410G>T (p.Ser4137Ile)
n.3653G>T
c.12512G>T (p.Ser4171Ile)
c.12509G>T (p.Ser4170Ile)
c.12488G>T (p.Ser4163Ile)
c.12482G>T (p.Ser4161Ile)
c.12476G>T (p.Ser4159Ile)
c.12452G>T (p.Ser4151Ile)
c.12275G>T (p.Ser4092Ile)
c.12419G>T (p.Ser4140Ile)
c.12491G>T (p.Ser4164Ile)
 ClinVar dbSNP COSMIC
1g.237784171T>ACA345413344RYR2c.*3551T>A (n.*3551T>A)
c.12447T>A (p.Ser4149Arg)
c.12480T>A (p.Ser4160Arg)
c.4636T>A
c.12459T>A (p.Ser4153Arg)
c.2512T>A
c.12411T>A (p.Ser4137Arg)
n.3654T>A
c.12513T>A (p.Ser4171Arg)
c.12510T>A (p.Ser4170Arg)
c.12489T>A (p.Ser4163Arg)
c.12483T>A (p.Ser4161Arg)
c.12477T>A (p.Ser4159Arg)
c.12453T>A (p.Ser4151Arg)
c.12276T>A (p.Ser4092Arg)
c.12420T>A (p.Ser4140Arg)
c.12492T>A (p.Ser4164Arg)
1g.237784171T>CCA424032213RYR2c.*3551T>C (n.*3551T>C)
c.12447T>C (p.Ser4149=)
c.12480T>C (p.Ser4160=)
c.4636T>C
c.12459T>C (p.Ser4153=)
c.2512T>C
c.12411T>C (p.Ser4137=)
n.3654T>C
c.12513T>C (p.Ser4171=)
c.12510T>C (p.Ser4170=)
c.12489T>C (p.Ser4163=)
c.12483T>C (p.Ser4161=)
c.12477T>C (p.Ser4159=)
c.12453T>C (p.Ser4151=)
c.12276T>C (p.Ser4092=)
c.12420T>C (p.Ser4140=)
c.12492T>C (p.Ser4164=)
1g.237784171T>GCA345413345RYR2c.*3551T>G (n.*3551T>G)
c.12447T>G (p.Ser4149Arg)
c.12480T>G (p.Ser4160Arg)
c.4636T>G
c.12459T>G (p.Ser4153Arg)
c.2512T>G
c.12411T>G (p.Ser4137Arg)
n.3654T>G
c.12513T>G (p.Ser4171Arg)
c.12510T>G (p.Ser4170Arg)
c.12489T>G (p.Ser4163Arg)
c.12483T>G (p.Ser4161Arg)
c.12477T>G (p.Ser4159Arg)
c.12453T>G (p.Ser4151Arg)
c.12276T>G (p.Ser4092Arg)
c.12420T>G (p.Ser4140Arg)
c.12492T>G (p.Ser4164Arg)
1g.237784172G>ACA345413347RYR2c.*3552G>A (n.*3552G>A)
c.12448G>A (p.Glu4150Lys)
c.12481G>A (p.Glu4161Lys)
c.4637G>A
c.12460G>A (p.Glu4154Lys)
c.2513G>A
c.12412G>A (p.Glu4138Lys)
n.3655G>A
c.12514G>A (p.Glu4172Lys)
c.12511G>A (p.Glu4171Lys)
c.12490G>A (p.Glu4164Lys)
c.12484G>A (p.Glu4162Lys)
c.12478G>A (p.Glu4160Lys)
c.12454G>A (p.Glu4152Lys)
c.12277G>A (p.Glu4093Lys)
c.12421G>A (p.Glu4141Lys)
c.12493G>A (p.Glu4165Lys)
1g.237784172G>CCA345413350RYR2c.*3552G>C (n.*3552G>C)
c.12448G>C (p.Glu4150Gln)
c.12481G>C (p.Glu4161Gln)
c.4637G>C
c.12460G>C (p.Glu4154Gln)
c.2513G>C
c.12412G>C (p.Glu4138Gln)
n.3655G>C
c.12514G>C (p.Glu4172Gln)
c.12511G>C (p.Glu4171Gln)
c.12490G>C (p.Glu4164Gln)
c.12484G>C (p.Glu4162Gln)
c.12478G>C (p.Glu4160Gln)
c.12454G>C (p.Glu4152Gln)
c.12277G>C (p.Glu4093Gln)
c.12421G>C (p.Glu4141Gln)
c.12493G>C (p.Glu4165Gln)
1g.237784172G>TCA345413351RYR2c.*3552G>T (n.*3552G>T)
c.12448G>T (p.Glu4150Ter)
c.12481G>T (p.Glu4161Ter)
c.4637G>T
c.12460G>T (p.Glu4154Ter)
c.2513G>T
c.12412G>T (p.Glu4138Ter)
n.3655G>T
c.12514G>T (p.Glu4172Ter)
c.12511G>T (p.Glu4171Ter)
c.12490G>T (p.Glu4164Ter)
c.12484G>T (p.Glu4162Ter)
c.12478G>T (p.Glu4160Ter)
c.12454G>T (p.Glu4152Ter)
c.12277G>T (p.Glu4093Ter)
c.12421G>T (p.Glu4141Ter)
c.12493G>T (p.Glu4165Ter)
1g.237784173A>CCA345413361RYR2c.*3553A>C (n.*3553A>C)
c.12449A>C (p.Glu4150Ala)
c.12482A>C (p.Glu4161Ala)
c.4638A>C
c.12461A>C (p.Glu4154Ala)
c.2514A>C
c.12413A>C (p.Glu4138Ala)
n.3656A>C
c.12515A>C (p.Glu4172Ala)
c.12512A>C (p.Glu4171Ala)
c.12491A>C (p.Glu4164Ala)
c.12485A>C (p.Glu4162Ala)
c.12479A>C (p.Glu4160Ala)
c.12455A>C (p.Glu4152Ala)
c.12278A>C (p.Glu4093Ala)
c.12422A>C (p.Glu4141Ala)
c.12494A>C (p.Glu4165Ala)
1g.237784173A>GCA345413357RYR2c.*3553A>G (n.*3553A>G)
c.12449A>G (p.Glu4150Gly)
c.12482A>G (p.Glu4161Gly)
c.4638A>G
c.12461A>G (p.Glu4154Gly)
c.2514A>G
c.12413A>G (p.Glu4138Gly)
n.3656A>G
c.12515A>G (p.Glu4172Gly)
c.12512A>G (p.Glu4171Gly)
c.12491A>G (p.Glu4164Gly)
c.12485A>G (p.Glu4162Gly)
c.12479A>G (p.Glu4160Gly)
c.12455A>G (p.Glu4152Gly)
c.12278A>G (p.Glu4093Gly)
c.12422A>G (p.Glu4141Gly)
c.12494A>G (p.Glu4165Gly)
1g.237784173A>TCA345413355RYR2c.*3553A>T (n.*3553A>T)
c.12449A>T (p.Glu4150Val)
c.12482A>T (p.Glu4161Val)
c.4638A>T
c.12461A>T (p.Glu4154Val)
c.2514A>T
c.12413A>T (p.Glu4138Val)
n.3656A>T
c.12515A>T (p.Glu4172Val)
c.12512A>T (p.Glu4171Val)
c.12491A>T (p.Glu4164Val)
c.12485A>T (p.Glu4162Val)
c.12479A>T (p.Glu4160Val)
c.12455A>T (p.Glu4152Val)
c.12278A>T (p.Glu4093Val)
c.12422A>T (p.Glu4141Val)
c.12494A>T (p.Glu4165Val)
1g.237784174G>ACA085185RYR2c.*3554G>A (n.*3554G>A)
c.12450G>A (p.Glu4150=)
c.12483G>A (p.Glu4161=)
c.4639G>A
c.12462G>A (p.Glu4154=)
c.2515G>A
c.12414G>A (p.Glu4138=)
n.3657G>A
c.12516G>A (p.Glu4172=)
c.12513G>A (p.Glu4171=)
c.12492G>A (p.Glu4164=)
c.12486G>A (p.Glu4162=)
c.12480G>A (p.Glu4160=)
c.12456G>A (p.Glu4152=)
c.12279G>A (p.Glu4093=)
c.12423G>A (p.Glu4141=)
c.12495G>A (p.Glu4165=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237784174G>CCA345413364RYR2c.*3554G>C (n.*3554G>C)
c.12450G>C (p.Glu4150Asp)
c.12483G>C (p.Glu4161Asp)
c.4639G>C
c.12462G>C (p.Glu4154Asp)
c.2515G>C
c.12414G>C (p.Glu4138Asp)
n.3657G>C
c.12516G>C (p.Glu4172Asp)
c.12513G>C (p.Glu4171Asp)
c.12492G>C (p.Glu4164Asp)
c.12486G>C (p.Glu4162Asp)
c.12480G>C (p.Glu4160Asp)
c.12456G>C (p.Glu4152Asp)
c.12279G>C (p.Glu4093Asp)
c.12423G>C (p.Glu4141Asp)
c.12495G>C (p.Glu4165Asp)
1g.237784174G=CA2487482414RYR2c.*3554G= (n.*3554G=)
c.12450G= (p.Glu4150=)
c.12483G= (p.Glu4161=)
c.4639G=
c.12462G= (p.Glu4154=)
c.2515G=
c.12414G= (p.Glu4138=)
n.3657G=
c.12516G= (p.Glu4172=)
c.12513G= (p.Glu4171=)
c.12492G= (p.Glu4164=)
c.12486G= (p.Glu4162=)
c.12480G= (p.Glu4160=)
c.12456G= (p.Glu4152=)
c.12279G= (p.Glu4093=)
c.12423G= (p.Glu4141=)
c.12495G= (p.Glu4165=)
1g.237784174G>TCA345413365RYR2c.*3554G>T (n.*3554G>T)
c.12450G>T (p.Glu4150Asp)
c.12483G>T (p.Glu4161Asp)
c.4639G>T
c.12462G>T (p.Glu4154Asp)
c.2515G>T
c.12414G>T (p.Glu4138Asp)
n.3657G>T
c.12516G>T (p.Glu4172Asp)
c.12513G>T (p.Glu4171Asp)
c.12492G>T (p.Glu4164Asp)
c.12486G>T (p.Glu4162Asp)
c.12480G>T (p.Glu4160Asp)
c.12456G>T (p.Glu4152Asp)
c.12279G>T (p.Glu4093Asp)
c.12423G>T (p.Glu4141Asp)
c.12495G>T (p.Glu4165Asp)
1g.237784175T>ACA16610026RYR2c.*3555T>A (n.*3555T>A)
c.12451T>A (p.Ser4151Thr)
c.12484T>A (p.Ser4162Thr)
c.4640T>A
c.12463T>A (p.Ser4155Thr)
c.2516T>A
c.12415T>A (p.Ser4139Thr)
n.3658T>A
c.12517T>A (p.Ser4173Thr)
c.12514T>A (p.Ser4172Thr)
c.12493T>A (p.Ser4165Thr)
c.12487T>A (p.Ser4163Thr)
c.12481T>A (p.Ser4161Thr)
c.12457T>A (p.Ser4153Thr)
c.12280T>A (p.Ser4094Thr)
c.12424T>A (p.Ser4142Thr)
c.12496T>A (p.Ser4166Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.237784175T>CCA345413368RYR2c.*3555T>C (n.*3555T>C)
c.12451T>C (p.Ser4151Pro)
c.12484T>C (p.Ser4162Pro)
c.4640T>C
c.12463T>C (p.Ser4155Pro)
c.2516T>C
c.12415T>C (p.Ser4139Pro)
n.3658T>C
c.12517T>C (p.Ser4173Pro)
c.12514T>C (p.Ser4172Pro)
c.12493T>C (p.Ser4165Pro)
c.12487T>C (p.Ser4163Pro)
c.12481T>C (p.Ser4161Pro)
c.12457T>C (p.Ser4153Pro)
c.12280T>C (p.Ser4094Pro)
c.12424T>C (p.Ser4142Pro)
c.12496T>C (p.Ser4166Pro)
 dbSNP
1g.237784175T>GCA345413373RYR2c.*3555T>G (n.*3555T>G)
c.12451T>G (p.Ser4151Ala)
c.12484T>G (p.Ser4162Ala)
c.4640T>G
c.12463T>G (p.Ser4155Ala)
c.2516T>G
c.12415T>G (p.Ser4139Ala)
n.3658T>G
c.12517T>G (p.Ser4173Ala)
c.12514T>G (p.Ser4172Ala)
c.12493T>G (p.Ser4165Ala)
c.12487T>G (p.Ser4163Ala)
c.12481T>G (p.Ser4161Ala)
c.12457T>G (p.Ser4153Ala)
c.12280T>G (p.Ser4094Ala)
c.12424T>G (p.Ser4142Ala)
c.12496T>G (p.Ser4166Ala)
1g.237784175T=CA2487482415RYR2c.*3555T= (n.*3555T=)
c.12451T= (p.Ser4151=)
c.12484T= (p.Ser4162=)
c.4640T=
c.12463T= (p.Ser4155=)
c.2516T=
c.12415T= (p.Ser4139=)
n.3658T=
c.12517T= (p.Ser4173=)
c.12514T= (p.Ser4172=)
c.12493T= (p.Ser4165=)
c.12487T= (p.Ser4163=)
c.12481T= (p.Ser4161=)
c.12457T= (p.Ser4153=)
c.12280T= (p.Ser4094=)
c.12424T= (p.Ser4142=)
c.12496T= (p.Ser4166=)
1g.237784176C>ACA345413376RYR2c.*3556C>A (n.*3556C>A)
c.12452C>A (p.Ser4151Tyr)
c.12485C>A (p.Ser4162Tyr)
c.4641C>A
c.12464C>A (p.Ser4155Tyr)
c.2517C>A
c.12416C>A (p.Ser4139Tyr)
n.3659C>A
c.12518C>A (p.Ser4173Tyr)
c.12515C>A (p.Ser4172Tyr)
c.12494C>A (p.Ser4165Tyr)
c.12488C>A (p.Ser4163Tyr)
c.12482C>A (p.Ser4161Tyr)
c.12458C>A (p.Ser4153Tyr)
c.12281C>A (p.Ser4094Tyr)
c.12425C>A (p.Ser4142Tyr)
c.12497C>A (p.Ser4166Tyr)
 ClinVar dbSNP COSMIC COSMIC
1g.237784176C>GCA345413381RYR2c.*3556C>G (n.*3556C>G)
c.12452C>G (p.Ser4151Cys)
c.12485C>G (p.Ser4162Cys)
c.4641C>G
c.12464C>G (p.Ser4155Cys)
c.2517C>G
c.12416C>G (p.Ser4139Cys)
n.3659C>G
c.12518C>G (p.Ser4173Cys)
c.12515C>G (p.Ser4172Cys)
c.12494C>G (p.Ser4165Cys)
c.12488C>G (p.Ser4163Cys)
c.12482C>G (p.Ser4161Cys)
c.12458C>G (p.Ser4153Cys)
c.12281C>G (p.Ser4094Cys)
c.12425C>G (p.Ser4142Cys)
c.12497C>G (p.Ser4166Cys)
1g.237784176C>TCA345413378RYR2c.*3556C>T (n.*3556C>T)
c.12452C>T (p.Ser4151Phe)
c.12485C>T (p.Ser4162Phe)
c.4641C>T
c.12464C>T (p.Ser4155Phe)
c.2517C>T
c.12416C>T (p.Ser4139Phe)
n.3659C>T
c.12518C>T (p.Ser4173Phe)
c.12515C>T (p.Ser4172Phe)
c.12494C>T (p.Ser4165Phe)
c.12488C>T (p.Ser4163Phe)
c.12482C>T (p.Ser4161Phe)
c.12458C>T (p.Ser4153Phe)
c.12281C>T (p.Ser4094Phe)
c.12425C>T (p.Ser4142Phe)
c.12497C>T (p.Ser4166Phe)
1g.237784177C>ACA424032218RYR2c.*3557C>A (n.*3557C>A)
c.12453C>A (p.Ser4151=)
c.12486C>A (p.Ser4162=)
c.4642C>A
c.12465C>A (p.Ser4155=)
c.2518C>A
c.12417C>A (p.Ser4139=)
n.3660C>A
c.12519C>A (p.Ser4173=)
c.12516C>A (p.Ser4172=)
c.12495C>A (p.Ser4165=)
c.12489C>A (p.Ser4163=)
c.12483C>A (p.Ser4161=)
c.12459C>A (p.Ser4153=)
c.12282C>A (p.Ser4094=)
c.12426C>A (p.Ser4142=)
c.12498C>A (p.Ser4166=)
1g.237784177C>GCA424032219RYR2c.*3557C>G (n.*3557C>G)
c.12453C>G (p.Ser4151=)
c.12486C>G (p.Ser4162=)
c.4642C>G
c.12465C>G (p.Ser4155=)
c.2518C>G
c.12417C>G (p.Ser4139=)
n.3660C>G
c.12519C>G (p.Ser4173=)
c.12516C>G (p.Ser4172=)
c.12495C>G (p.Ser4165=)
c.12489C>G (p.Ser4163=)
c.12483C>G (p.Ser4161=)
c.12459C>G (p.Ser4153=)
c.12282C>G (p.Ser4094=)
c.12426C>G (p.Ser4142=)
c.12498C>G (p.Ser4166=)
1g.237784177C>TCA424032220RYR2c.*3557C>T (n.*3557C>T)
c.12453C>T (p.Ser4151=)
c.12486C>T (p.Ser4162=)
c.4642C>T
c.12465C>T (p.Ser4155=)
c.2518C>T
c.12417C>T (p.Ser4139=)
n.3660C>T
c.12519C>T (p.Ser4173=)
c.12516C>T (p.Ser4172=)
c.12495C>T (p.Ser4165=)
c.12489C>T (p.Ser4163=)
c.12483C>T (p.Ser4161=)
c.12459C>T (p.Ser4153=)
c.12282C>T (p.Ser4094=)
c.12426C>T (p.Ser4142=)
c.12498C>T (p.Ser4166=)
 gnomAD v4
1g.237784178A>CCA345413383RYR2c.*3558A>C (n.*3558A>C)
c.12454A>C (p.Ser4152Arg)
c.12487A>C (p.Ser4163Arg)
c.4643A>C
c.12466A>C (p.Ser4156Arg)
c.2519A>C
c.12418A>C (p.Ser4140Arg)
n.3661A>C
c.12520A>C (p.Ser4174Arg)
c.12517A>C (p.Ser4173Arg)
c.12496A>C (p.Ser4166Arg)
c.12490A>C (p.Ser4164Arg)
c.12484A>C (p.Ser4162Arg)
c.12460A>C (p.Ser4154Arg)
c.12283A>C (p.Ser4095Arg)
c.12427A>C (p.Ser4143Arg)
c.12499A>C (p.Ser4167Arg)
 COSMIC COSMIC
1g.237784178A>GCA345413388RYR2c.*3558A>G (n.*3558A>G)
c.12454A>G (p.Ser4152Gly)
c.12487A>G (p.Ser4163Gly)
c.4643A>G
c.12466A>G (p.Ser4156Gly)
c.2519A>G
c.12418A>G (p.Ser4140Gly)
n.3661A>G
c.12520A>G (p.Ser4174Gly)
c.12517A>G (p.Ser4173Gly)
c.12496A>G (p.Ser4166Gly)
c.12490A>G (p.Ser4164Gly)
c.12484A>G (p.Ser4162Gly)
c.12460A>G (p.Ser4154Gly)
c.12283A>G (p.Ser4095Gly)
c.12427A>G (p.Ser4143Gly)
c.12499A>G (p.Ser4167Gly)
1g.237784178A>TCA345413390RYR2c.*3558A>T (n.*3558A>T)
c.12454A>T (p.Ser4152Cys)
c.12487A>T (p.Ser4163Cys)
c.4643A>T
c.12466A>T (p.Ser4156Cys)
c.2519A>T
c.12418A>T (p.Ser4140Cys)
n.3661A>T
c.12520A>T (p.Ser4174Cys)
c.12517A>T (p.Ser4173Cys)
c.12496A>T (p.Ser4166Cys)
c.12490A>T (p.Ser4164Cys)
c.12484A>T (p.Ser4162Cys)
c.12460A>T (p.Ser4154Cys)
c.12283A>T (p.Ser4095Cys)
c.12427A>T (p.Ser4143Cys)
c.12499A>T (p.Ser4167Cys)
1g.237784179G>ACA345413393RYR2c.*3559G>A (n.*3559G>A)
c.12455G>A (p.Ser4152Asn)
c.12488G>A (p.Ser4163Asn)
c.4644G>A
c.12467G>A (p.Ser4156Asn)
c.2520G>A
c.12419G>A (p.Ser4140Asn)
n.3662G>A
c.12521G>A (p.Ser4174Asn)
c.12518G>A (p.Ser4173Asn)
c.12497G>A (p.Ser4166Asn)
c.12491G>A (p.Ser4164Asn)
c.12485G>A (p.Ser4162Asn)
c.12461G>A (p.Ser4154Asn)
c.12284G>A (p.Ser4095Asn)
c.12428G>A (p.Ser4143Asn)
c.12500G>A (p.Ser4167Asn)
1g.237784179G>CCA345413396RYR2c.*3559G>C (n.*3559G>C)
c.12455G>C (p.Ser4152Thr)
c.12488G>C (p.Ser4163Thr)
c.4644G>C
c.12467G>C (p.Ser4156Thr)
c.2520G>C
c.12419G>C (p.Ser4140Thr)
n.3662G>C
c.12521G>C (p.Ser4174Thr)
c.12518G>C (p.Ser4173Thr)
c.12497G>C (p.Ser4166Thr)
c.12491G>C (p.Ser4164Thr)
c.12485G>C (p.Ser4162Thr)
c.12461G>C (p.Ser4154Thr)
c.12284G>C (p.Ser4095Thr)
c.12428G>C (p.Ser4143Thr)
c.12500G>C (p.Ser4167Thr)
1g.237784179G>TCA345413397RYR2c.*3559G>T (n.*3559G>T)
c.12455G>T (p.Ser4152Ile)
c.12488G>T (p.Ser4163Ile)
c.4644G>T
c.12467G>T (p.Ser4156Ile)
c.2520G>T
c.12419G>T (p.Ser4140Ile)
n.3662G>T
c.12521G>T (p.Ser4174Ile)
c.12518G>T (p.Ser4173Ile)
c.12497G>T (p.Ser4166Ile)
c.12491G>T (p.Ser4164Ile)
c.12485G>T (p.Ser4162Ile)
c.12461G>T (p.Ser4154Ile)
c.12284G>T (p.Ser4095Ile)
c.12428G>T (p.Ser4143Ile)
c.12500G>T (p.Ser4167Ile)
1g.237784180C>ACA16622167RYR2c.*3560C>A (n.*3560C>A)
c.12456C>A (p.Ser4152Arg)
c.12489C>A (p.Ser4163Arg)
c.4645C>A
c.12468C>A (p.Ser4156Arg)
c.2521C>A
c.12420C>A (p.Ser4140Arg)
n.3663C>A
c.12522C>A (p.Ser4174Arg)
c.12519C>A (p.Ser4173Arg)
c.12498C>A (p.Ser4166Arg)
c.12492C>A (p.Ser4164Arg)
c.12486C>A (p.Ser4162Arg)
c.12462C>A (p.Ser4154Arg)
c.12285C>A (p.Ser4095Arg)
c.12429C>A (p.Ser4143Arg)
c.12501C>A (p.Ser4167Arg)
 gnomAD v4
1g.237784180C=CA2487482416RYR2c.*3560C= (n.*3560C=)
c.12456C= (p.Ser4152=)
c.12489C= (p.Ser4163=)
c.4645C=
c.12468C= (p.Ser4156=)
c.2521C=
c.12420C= (p.Ser4140=)
n.3663C=
c.12522C= (p.Ser4174=)
c.12519C= (p.Ser4173=)
c.12498C= (p.Ser4166=)
c.12492C= (p.Ser4164=)
c.12486C= (p.Ser4162=)
c.12462C= (p.Ser4154=)
c.12285C= (p.Ser4095=)
c.12429C= (p.Ser4143=)
c.12501C= (p.Ser4167=)
1g.237784180C>GCA345413401RYR2c.*3560C>G (n.*3560C>G)
c.12456C>G (p.Ser4152Arg)
c.12489C>G (p.Ser4163Arg)
c.4645C>G
c.12468C>G (p.Ser4156Arg)
c.2521C>G
c.12420C>G (p.Ser4140Arg)
n.3663C>G
c.12522C>G (p.Ser4174Arg)
c.12519C>G (p.Ser4173Arg)
c.12498C>G (p.Ser4166Arg)
c.12492C>G (p.Ser4164Arg)
c.12486C>G (p.Ser4162Arg)
c.12462C>G (p.Ser4154Arg)
c.12285C>G (p.Ser4095Arg)
c.12429C>G (p.Ser4143Arg)
c.12501C>G (p.Ser4167Arg)
1g.237784180C>TCA424032223RYR2c.*3560C>T (n.*3560C>T)
c.12456C>T (p.Ser4152=)
c.12489C>T (p.Ser4163=)
c.4645C>T
c.12468C>T (p.Ser4156=)
c.2521C>T
c.12420C>T (p.Ser4140=)
n.3663C>T
c.12522C>T (p.Ser4174=)
c.12519C>T (p.Ser4173=)
c.12498C>T (p.Ser4166=)
c.12492C>T (p.Ser4164=)
c.12486C>T (p.Ser4162=)
c.12462C>T (p.Ser4154=)
c.12285C>T (p.Ser4095=)
c.12429C>T (p.Ser4143=)
c.12501C>T (p.Ser4167=)
 ClinVar dbSNP gnomAD v4
1g.237784181C>ACA424032224RYR2c.*3561C>A (n.*3561C>A)
c.12457C>A (p.Arg4153=)
c.12490C>A (p.Arg4164=)
c.4646C>A
c.12469C>A (p.Arg4157=)
c.2522C>A
c.12421C>A (p.Arg4141=)
n.3664C>A
c.12523C>A (p.Arg4175=)
c.12520C>A (p.Arg4174=)
c.12499C>A (p.Arg4167=)
c.12493C>A (p.Arg4165=)
c.12487C>A (p.Arg4163=)
c.12463C>A (p.Arg4155=)
c.12286C>A (p.Arg4096=)
c.12430C>A (p.Arg4144=)
c.12502C>A (p.Arg4168=)
 ClinVar dbSNP gnomAD v4
1g.237784181C=CA2487482417RYR2c.*3561C= (n.*3561C=)
c.12457C= (p.Arg4153=)
c.12490C= (p.Arg4164=)
c.4646C=
c.12469C= (p.Arg4157=)
c.2522C=
c.12421C= (p.Arg4141=)
n.3664C=
c.12523C= (p.Arg4175=)
c.12520C= (p.Arg4174=)
c.12499C= (p.Arg4167=)
c.12493C= (p.Arg4165=)
c.12487C= (p.Arg4163=)
c.12463C= (p.Arg4155=)
c.12286C= (p.Arg4096=)
c.12430C= (p.Arg4144=)
c.12502C= (p.Arg4168=)
1g.237784181C>GCA345413402RYR2c.*3561C>G (n.*3561C>G)
c.12457C>G (p.Arg4153Gly)
c.12490C>G (p.Arg4164Gly)
c.4646C>G
c.12469C>G (p.Arg4157Gly)
c.2522C>G
c.12421C>G (p.Arg4141Gly)
n.3664C>G
c.12523C>G (p.Arg4175Gly)
c.12520C>G (p.Arg4174Gly)
c.12499C>G (p.Arg4167Gly)
c.12493C>G (p.Arg4165Gly)
c.12487C>G (p.Arg4163Gly)
c.12463C>G (p.Arg4155Gly)
c.12286C>G (p.Arg4096Gly)
c.12430C>G (p.Arg4144Gly)
c.12502C>G (p.Arg4168Gly)
1g.237784181C>TCA066453RYR2c.*3561C>T (n.*3561C>T)
c.12457C>T (p.Arg4153Ter)
c.12490C>T (p.Arg4164Ter)
c.4646C>T
c.12469C>T (p.Arg4157Ter)
c.2522C>T
c.12421C>T (p.Arg4141Ter)
n.3664C>T
c.12523C>T (p.Arg4175Ter)
c.12520C>T (p.Arg4174Ter)
c.12499C>T (p.Arg4167Ter)
c.12493C>T (p.Arg4165Ter)
c.12487C>T (p.Arg4163Ter)
c.12463C>T (p.Arg4155Ter)
c.12286C>T (p.Arg4096Ter)
c.12430C>T (p.Arg4144Ter)
c.12502C>T (p.Arg4168Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.237784182G>ACA007532RYR2c.*3562G>A (n.*3562G>A)
c.12458G>A (p.Arg4153Gln)
c.12491G>A (p.Arg4164Gln)
c.4647G>A
c.12470G>A (p.Arg4157Gln)
c.2523G>A
c.12422G>A (p.Arg4141Gln)
n.3665G>A
c.12524G>A (p.Arg4175Gln)
c.12521G>A (p.Arg4174Gln)
c.12500G>A (p.Arg4167Gln)
c.12494G>A (p.Arg4165Gln)
c.12488G>A (p.Arg4163Gln)
c.12464G>A (p.Arg4155Gln)
c.12287G>A (p.Arg4096Gln)
c.12431G>A (p.Arg4144Gln)
c.12503G>A (p.Arg4168Gln)
 ClinVar dbSNP COSMIC COSMIC
1g.237784182G>CCA345413404RYR2c.*3562G>C (n.*3562G>C)
c.12458G>C (p.Arg4153Pro)
c.12491G>C (p.Arg4164Pro)
c.4647G>C
c.12470G>C (p.Arg4157Pro)
c.2523G>C
c.12422G>C (p.Arg4141Pro)
n.3665G>C
c.12524G>C (p.Arg4175Pro)
c.12521G>C (p.Arg4174Pro)
c.12500G>C (p.Arg4167Pro)
c.12494G>C (p.Arg4165Pro)
c.12488G>C (p.Arg4163Pro)
c.12464G>C (p.Arg4155Pro)
c.12287G>C (p.Arg4096Pro)
c.12431G>C (p.Arg4144Pro)
c.12503G>C (p.Arg4168Pro)
1g.237784182G=CA2487482418RYR2c.*3562G= (n.*3562G=)
c.12458G= (p.Arg4153=)
c.12491G= (p.Arg4164=)
c.4647G=
c.12470G= (p.Arg4157=)
c.2523G=
c.12422G= (p.Arg4141=)
n.3665G=
c.12524G= (p.Arg4175=)
c.12521G= (p.Arg4174=)
c.12500G= (p.Arg4167=)
c.12494G= (p.Arg4165=)
c.12488G= (p.Arg4163=)
c.12464G= (p.Arg4155=)
c.12287G= (p.Arg4096=)
c.12431G= (p.Arg4144=)
c.12503G= (p.Arg4168=)
1g.237784182G>TCA345413403RYR2c.*3562G>T (n.*3562G>T)
c.12458G>T (p.Arg4153Leu)
c.12491G>T (p.Arg4164Leu)
c.4647G>T
c.12470G>T (p.Arg4157Leu)
c.2523G>T
c.12422G>T (p.Arg4141Leu)
n.3665G>T
c.12524G>T (p.Arg4175Leu)
c.12521G>T (p.Arg4174Leu)
c.12500G>T (p.Arg4167Leu)
c.12494G>T (p.Arg4165Leu)
c.12488G>T (p.Arg4163Leu)
c.12464G>T (p.Arg4155Leu)
c.12287G>T (p.Arg4096Leu)
c.12431G>T (p.Arg4144Leu)
c.12503G>T (p.Arg4168Leu)
1g.237784183A=CA2487482419RYR2c.*3563A= (n.*3563A=)
c.12459A= (p.Arg4153=)
c.12492A= (p.Arg4164=)
c.4648A=
c.12471A= (p.Arg4157=)
c.2524A=
c.12423A= (p.Arg4141=)
n.3666A=
c.12525A= (p.Arg4175=)
c.12522A= (p.Arg4174=)
c.12501A= (p.Arg4167=)
c.12495A= (p.Arg4165=)
c.12489A= (p.Arg4163=)
c.12465A= (p.Arg4155=)
c.12288A= (p.Arg4096=)
c.12432A= (p.Arg4144=)
c.12504A= (p.Arg4168=)
1g.237784183A>CCA424032225RYR2c.*3563A>C (n.*3563A>C)
c.12459A>C (p.Arg4153=)
c.12492A>C (p.Arg4164=)
c.4648A>C
c.12471A>C (p.Arg4157=)
c.2524A>C
c.12423A>C (p.Arg4141=)
n.3666A>C
c.12525A>C (p.Arg4175=)
c.12522A>C (p.Arg4174=)
c.12501A>C (p.Arg4167=)
c.12495A>C (p.Arg4165=)
c.12489A>C (p.Arg4163=)
c.12465A>C (p.Arg4155=)
c.12288A>C (p.Arg4096=)
c.12432A>C (p.Arg4144=)
c.12504A>C (p.Arg4168=)
1g.237784183A>GCA085186RYR2c.*3563A>G (n.*3563A>G)
c.12459A>G (p.Arg4153=)
c.12492A>G (p.Arg4164=)
c.4648A>G
c.12471A>G (p.Arg4157=)
c.2524A>G
c.12423A>G (p.Arg4141=)
n.3666A>G
c.12525A>G (p.Arg4175=)
c.12522A>G (p.Arg4174=)
c.12501A>G (p.Arg4167=)
c.12495A>G (p.Arg4165=)
c.12489A>G (p.Arg4163=)
c.12465A>G (p.Arg4155=)
c.12288A>G (p.Arg4096=)
c.12432A>G (p.Arg4144=)
c.12504A>G (p.Arg4168=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784183A>TCA424032229RYR2c.*3563A>T (n.*3563A>T)
c.12459A>T (p.Arg4153=)
c.12492A>T (p.Arg4164=)
c.4648A>T
c.12471A>T (p.Arg4157=)
c.2524A>T
c.12423A>T (p.Arg4141=)
n.3666A>T
c.12525A>T (p.Arg4175=)
c.12522A>T (p.Arg4174=)
c.12501A>T (p.Arg4167=)
c.12495A>T (p.Arg4165=)
c.12489A>T (p.Arg4163=)
c.12465A>T (p.Arg4155=)
c.12288A>T (p.Arg4096=)
c.12432A>T (p.Arg4144=)
c.12504A>T (p.Arg4168=)
1g.237784184A=CA2487482420RYR2c.*3564A= (n.*3564A=)
c.12460A= (p.Thr4154=)
c.12493A= (p.Thr4165=)
c.4649A=
c.12472A= (p.Thr4158=)
c.2525A=
c.12424A= (p.Thr4142=)
n.3667A=
c.12526A= (p.Thr4176=)
c.12523A= (p.Thr4175=)
c.12502A= (p.Thr4168=)
c.12496A= (p.Thr4166=)
c.12490A= (p.Thr4164=)
c.12466A= (p.Thr4156=)
c.12289A= (p.Thr4097=)
c.12433A= (p.Thr4145=)
c.12505A= (p.Thr4169=)
1g.237784184A>CCA345413410RYR2c.*3564A>C (n.*3564A>C)
c.12460A>C (p.Thr4154Pro)
c.12493A>C (p.Thr4165Pro)
c.4649A>C
c.12472A>C (p.Thr4158Pro)
c.2525A>C
c.12424A>C (p.Thr4142Pro)
n.3667A>C
c.12526A>C (p.Thr4176Pro)
c.12523A>C (p.Thr4175Pro)
c.12502A>C (p.Thr4168Pro)
c.12496A>C (p.Thr4166Pro)
c.12490A>C (p.Thr4164Pro)
c.12466A>C (p.Thr4156Pro)
c.12289A>C (p.Thr4097Pro)
c.12433A>C (p.Thr4145Pro)
c.12505A>C (p.Thr4169Pro)
 dbSNP
1g.237784184A>GCA345413409RYR2c.*3564A>G (n.*3564A>G)
c.12460A>G (p.Thr4154Ala)
c.12493A>G (p.Thr4165Ala)
c.4649A>G
c.12472A>G (p.Thr4158Ala)
c.2525A>G
c.12424A>G (p.Thr4142Ala)
n.3667A>G
c.12526A>G (p.Thr4176Ala)
c.12523A>G (p.Thr4175Ala)
c.12502A>G (p.Thr4168Ala)
c.12496A>G (p.Thr4166Ala)
c.12490A>G (p.Thr4164Ala)
c.12466A>G (p.Thr4156Ala)
c.12289A>G (p.Thr4097Ala)
c.12433A>G (p.Thr4145Ala)
c.12505A>G (p.Thr4169Ala)
 dbSNP gnomAD v4
1g.237784184A>TCA345413411RYR2c.*3564A>T (n.*3564A>T)
c.12460A>T (p.Thr4154Ser)
c.12493A>T (p.Thr4165Ser)
c.4649A>T
c.12472A>T (p.Thr4158Ser)
c.2525A>T
c.12424A>T (p.Thr4142Ser)
n.3667A>T
c.12526A>T (p.Thr4176Ser)
c.12523A>T (p.Thr4175Ser)
c.12502A>T (p.Thr4168Ser)
c.12496A>T (p.Thr4166Ser)
c.12490A>T (p.Thr4164Ser)
c.12466A>T (p.Thr4156Ser)
c.12289A>T (p.Thr4097Ser)
c.12433A>T (p.Thr4145Ser)
c.12505A>T (p.Thr4169Ser)
 dbSNP
1g.237784185C>ACA345413412RYR2c.*3565C>A (n.*3565C>A)
c.12461C>A (p.Thr4154Asn)
c.12494C>A (p.Thr4165Asn)
c.4650C>A
c.12473C>A (p.Thr4158Asn)
c.2526C>A
c.12425C>A (p.Thr4142Asn)
n.3668C>A
c.12527C>A (p.Thr4176Asn)
c.12524C>A (p.Thr4175Asn)
c.12503C>A (p.Thr4168Asn)
c.12497C>A (p.Thr4166Asn)
c.12491C>A (p.Thr4164Asn)
c.12467C>A (p.Thr4156Asn)
c.12290C>A (p.Thr4097Asn)
c.12434C>A (p.Thr4145Asn)
c.12506C>A (p.Thr4169Asn)
1g.237784185C>GCA345413414RYR2c.*3565C>G (n.*3565C>G)
c.12461C>G (p.Thr4154Ser)
c.12494C>G (p.Thr4165Ser)
c.4650C>G
c.12473C>G (p.Thr4158Ser)
c.2526C>G
c.12425C>G (p.Thr4142Ser)
n.3668C>G
c.12527C>G (p.Thr4176Ser)
c.12524C>G (p.Thr4175Ser)
c.12503C>G (p.Thr4168Ser)
c.12497C>G (p.Thr4166Ser)
c.12491C>G (p.Thr4164Ser)
c.12467C>G (p.Thr4156Ser)
c.12290C>G (p.Thr4097Ser)
c.12434C>G (p.Thr4145Ser)
c.12506C>G (p.Thr4169Ser)
1g.237784185C>TCA345413413RYR2c.*3565C>T (n.*3565C>T)
c.12461C>T (p.Thr4154Ile)
c.12494C>T (p.Thr4165Ile)
c.4650C>T
c.12473C>T (p.Thr4158Ile)
c.2526C>T
c.12425C>T (p.Thr4142Ile)
n.3668C>T
c.12527C>T (p.Thr4176Ile)
c.12524C>T (p.Thr4175Ile)
c.12503C>T (p.Thr4168Ile)
c.12497C>T (p.Thr4166Ile)
c.12491C>T (p.Thr4164Ile)
c.12467C>T (p.Thr4156Ile)
c.12290C>T (p.Thr4097Ile)
c.12434C>T (p.Thr4145Ile)
c.12506C>T (p.Thr4169Ile)
1g.237784186C>ACA424032233RYR2c.*3566C>A (n.*3566C>A)
c.12462C>A (p.Thr4154=)
c.12495C>A (p.Thr4165=)
c.4651C>A
c.12474C>A (p.Thr4158=)
c.2527C>A
c.12426C>A (p.Thr4142=)
n.3669C>A
c.12528C>A (p.Thr4176=)
c.12525C>A (p.Thr4175=)
c.12504C>A (p.Thr4168=)
c.12498C>A (p.Thr4166=)
c.12492C>A (p.Thr4164=)
c.12468C>A (p.Thr4156=)
c.12291C>A (p.Thr4097=)
c.12435C>A (p.Thr4145=)
c.12507C>A (p.Thr4169=)
1g.237784186C=CA2487482421RYR2c.*3566C= (n.*3566C=)
c.12462C= (p.Thr4154=)
c.12495C= (p.Thr4165=)
c.4651C=
c.12474C= (p.Thr4158=)
c.2527C=
c.12426C= (p.Thr4142=)
n.3669C=
c.12528C= (p.Thr4176=)
c.12525C= (p.Thr4175=)
c.12504C= (p.Thr4168=)
c.12498C= (p.Thr4166=)
c.12492C= (p.Thr4164=)
c.12468C= (p.Thr4156=)
c.12291C= (p.Thr4097=)
c.12435C= (p.Thr4145=)
c.12507C= (p.Thr4169=)
1g.237784186C>GCA085187RYR2c.*3566C>G (n.*3566C>G)
c.12462C>G (p.Thr4154=)
c.12495C>G (p.Thr4165=)
c.4651C>G
c.12474C>G (p.Thr4158=)
c.2527C>G
c.12426C>G (p.Thr4142=)
n.3669C>G
c.12528C>G (p.Thr4176=)
c.12525C>G (p.Thr4175=)
c.12504C>G (p.Thr4168=)
c.12498C>G (p.Thr4166=)
c.12492C>G (p.Thr4164=)
c.12468C>G (p.Thr4156=)
c.12291C>G (p.Thr4097=)
c.12435C>G (p.Thr4145=)
c.12507C>G (p.Thr4169=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237784186C>TCA424032231RYR2c.*3566C>T (n.*3566C>T)
c.12462C>T (p.Thr4154=)
c.12495C>T (p.Thr4165=)
c.4651C>T
c.12474C>T (p.Thr4158=)
c.2527C>T
c.12426C>T (p.Thr4142=)
n.3669C>T
c.12528C>T (p.Thr4176=)
c.12525C>T (p.Thr4175=)
c.12504C>T (p.Thr4168=)
c.12498C>T (p.Thr4166=)
c.12492C>T (p.Thr4164=)
c.12468C>T (p.Thr4156=)
c.12291C>T (p.Thr4097=)
c.12435C>T (p.Thr4145=)
c.12507C>T (p.Thr4169=)
 gnomAD v4
1g.237784187C>ACA345413416RYR2c.*3567C>A (n.*3567C>A)
c.12463C>A (p.Gln4155Lys)
c.12496C>A (p.Gln4166Lys)
c.4652C>A
c.12475C>A (p.Gln4159Lys)
c.2528C>A
c.12427C>A (p.Gln4143Lys)
n.3670C>A
c.12529C>A (p.Gln4177Lys)
c.12526C>A (p.Gln4176Lys)
c.12505C>A (p.Gln4169Lys)
c.12499C>A (p.Gln4167Lys)
c.12493C>A (p.Gln4165Lys)
c.12469C>A (p.Gln4157Lys)
c.12292C>A (p.Gln4098Lys)
c.12436C>A (p.Gln4146Lys)
c.12508C>A (p.Gln4170Lys)
 ClinVar
1g.237784187C>GCA345413415RYR2c.*3567C>G (n.*3567C>G)
c.12463C>G (p.Gln4155Glu)
c.12496C>G (p.Gln4166Glu)
c.4652C>G
c.12475C>G (p.Gln4159Glu)
c.2528C>G
c.12427C>G (p.Gln4143Glu)
n.3670C>G
c.12529C>G (p.Gln4177Glu)
c.12526C>G (p.Gln4176Glu)
c.12505C>G (p.Gln4169Glu)
c.12499C>G (p.Gln4167Glu)
c.12493C>G (p.Gln4165Glu)
c.12469C>G (p.Gln4157Glu)
c.12292C>G (p.Gln4098Glu)
c.12436C>G (p.Gln4146Glu)
c.12508C>G (p.Gln4170Glu)
1g.237784187C>TCA345413417RYR2c.*3567C>T (n.*3567C>T)
c.12463C>T (p.Gln4155Ter)
c.12496C>T (p.Gln4166Ter)
c.4652C>T
c.12475C>T (p.Gln4159Ter)
c.2528C>T
c.12427C>T (p.Gln4143Ter)
n.3670C>T
c.12529C>T (p.Gln4177Ter)
c.12526C>T (p.Gln4176Ter)
c.12505C>T (p.Gln4169Ter)
c.12499C>T (p.Gln4167Ter)
c.12493C>T (p.Gln4165Ter)
c.12469C>T (p.Gln4157Ter)
c.12292C>T (p.Gln4098Ter)
c.12436C>T (p.Gln4146Ter)
c.12508C>T (p.Gln4170Ter)
1g.237784188A=CA2487482422RYR2c.*3568A= (n.*3568A=)
c.12464A= (p.Gln4155=)
c.12497A= (p.Gln4166=)
c.4653A=
c.12476A= (p.Gln4159=)
c.2529A=
c.12428A= (p.Gln4143=)
n.3671A=
c.12530A= (p.Gln4177=)
c.12527A= (p.Gln4176=)
c.12506A= (p.Gln4169=)
c.12500A= (p.Gln4167=)
c.12494A= (p.Gln4165=)
c.12470A= (p.Gln4157=)
c.12293A= (p.Gln4098=)
c.12437A= (p.Gln4146=)
c.12509A= (p.Gln4170=)
1g.237784188A>CCA345413418RYR2c.*3568A>C (n.*3568A>C)
c.12464A>C (p.Gln4155Pro)
c.12497A>C (p.Gln4166Pro)
c.4653A>C
c.12476A>C (p.Gln4159Pro)
c.2529A>C
c.12428A>C (p.Gln4143Pro)
n.3671A>C
c.12530A>C (p.Gln4177Pro)
c.12527A>C (p.Gln4176Pro)
c.12506A>C (p.Gln4169Pro)
c.12500A>C (p.Gln4167Pro)
c.12494A>C (p.Gln4165Pro)
c.12470A>C (p.Gln4157Pro)
c.12293A>C (p.Gln4098Pro)
c.12437A>C (p.Gln4146Pro)
c.12509A>C (p.Gln4170Pro)
 dbSNP
1g.237784188A>GCA345413420RYR2c.*3568A>G (n.*3568A>G)
c.12464A>G (p.Gln4155Arg)
c.12497A>G (p.Gln4166Arg)
c.4653A>G
c.12476A>G (p.Gln4159Arg)
c.2529A>G
c.12428A>G (p.Gln4143Arg)
n.3671A>G
c.12530A>G (p.Gln4177Arg)
c.12527A>G (p.Gln4176Arg)
c.12506A>G (p.Gln4169Arg)
c.12500A>G (p.Gln4167Arg)
c.12494A>G (p.Gln4165Arg)
c.12470A>G (p.Gln4157Arg)
c.12293A>G (p.Gln4098Arg)
c.12437A>G (p.Gln4146Arg)
c.12509A>G (p.Gln4170Arg)
1g.237784188A>TCA345413419RYR2c.*3568A>T (n.*3568A>T)
c.12464A>T (p.Gln4155Leu)
c.12497A>T (p.Gln4166Leu)
c.4653A>T
c.12476A>T (p.Gln4159Leu)
c.2529A>T
c.12428A>T (p.Gln4143Leu)
n.3671A>T
c.12530A>T (p.Gln4177Leu)
c.12527A>T (p.Gln4176Leu)
c.12506A>T (p.Gln4169Leu)
c.12500A>T (p.Gln4167Leu)
c.12494A>T (p.Gln4165Leu)
c.12470A>T (p.Gln4157Leu)
c.12293A>T (p.Gln4098Leu)
c.12437A>T (p.Gln4146Leu)
c.12509A>T (p.Gln4170Leu)
1g.237784189G>ACA424032234RYR2c.*3569G>A (n.*3569G>A)
c.12465G>A (p.Gln4155=)
c.12498G>A (p.Gln4166=)
c.4654G>A
c.12477G>A (p.Gln4159=)
c.2530G>A
c.12429G>A (p.Gln4143=)
n.3672G>A
c.12531G>A (p.Gln4177=)
c.12528G>A (p.Gln4176=)
c.12507G>A (p.Gln4169=)
c.12501G>A (p.Gln4167=)
c.12495G>A (p.Gln4165=)
c.12471G>A (p.Gln4157=)
c.12294G>A (p.Gln4098=)
c.12438G>A (p.Gln4146=)
c.12510G>A (p.Gln4170=)
1g.237784189G>CCA345413421RYR2c.*3569G>C (n.*3569G>C)
c.12465G>C (p.Gln4155His)
c.12498G>C (p.Gln4166His)
c.4654G>C
c.12477G>C (p.Gln4159His)
c.2530G>C
c.12429G>C (p.Gln4143His)
n.3672G>C
c.12531G>C (p.Gln4177His)
c.12528G>C (p.Gln4176His)
c.12507G>C (p.Gln4169His)
c.12501G>C (p.Gln4167His)
c.12495G>C (p.Gln4165His)
c.12471G>C (p.Gln4157His)
c.12294G>C (p.Gln4098His)
c.12438G>C (p.Gln4146His)
c.12510G>C (p.Gln4170His)
1g.237784189G=CA2487482423RYR2c.*3569G= (n.*3569G=)
c.12465G= (p.Gln4155=)
c.12498G= (p.Gln4166=)
c.4654G=
c.12477G= (p.Gln4159=)
c.2530G=
c.12429G= (p.Gln4143=)
n.3672G=
c.12531G= (p.Gln4177=)
c.12528G= (p.Gln4176=)
c.12507G= (p.Gln4169=)
c.12501G= (p.Gln4167=)
c.12495G= (p.Gln4165=)
c.12471G= (p.Gln4157=)
c.12294G= (p.Gln4098=)
c.12438G= (p.Gln4146=)
c.12510G= (p.Gln4170=)
1g.237784189G>TCA345413422RYR2c.*3569G>T (n.*3569G>T)
c.12465G>T (p.Gln4155His)
c.12498G>T (p.Gln4166His)
c.4654G>T
c.12477G>T (p.Gln4159His)
c.2530G>T
c.12429G>T (p.Gln4143His)
n.3672G>T
c.12531G>T (p.Gln4177His)
c.12528G>T (p.Gln4176His)
c.12507G>T (p.Gln4169His)
c.12501G>T (p.Gln4167His)
c.12495G>T (p.Gln4165His)
c.12471G>T (p.Gln4157His)
c.12294G>T (p.Gln4098His)
c.12438G>T (p.Gln4146His)
c.12510G>T (p.Gln4170His)
 ClinVar dbSNP
1g.237784190T>ACA345413423RYR2c.*3570T>A (n.*3570T>A)
c.12466T>A (p.Trp4156Arg)
c.12499T>A (p.Trp4167Arg)
c.4655T>A
c.12478T>A (p.Trp4160Arg)
c.2531T>A
c.12430T>A (p.Trp4144Arg)
n.3673T>A
c.12532T>A (p.Trp4178Arg)
c.12529T>A (p.Trp4177Arg)
c.12508T>A (p.Trp4170Arg)
c.12502T>A (p.Trp4168Arg)
c.12496T>A (p.Trp4166Arg)
c.12472T>A (p.Trp4158Arg)
c.12295T>A (p.Trp4099Arg)
c.12439T>A (p.Trp4147Arg)
c.12511T>A (p.Trp4171Arg)
1g.237784190T>CCA345413424RYR2c.*3570T>C (n.*3570T>C)
c.12466T>C (p.Trp4156Arg)
c.12499T>C (p.Trp4167Arg)
c.4655T>C
c.12478T>C (p.Trp4160Arg)
c.2531T>C
c.12430T>C (p.Trp4144Arg)
n.3673T>C
c.12532T>C (p.Trp4178Arg)
c.12529T>C (p.Trp4177Arg)
c.12508T>C (p.Trp4170Arg)
c.12502T>C (p.Trp4168Arg)
c.12496T>C (p.Trp4166Arg)
c.12472T>C (p.Trp4158Arg)
c.12295T>C (p.Trp4099Arg)
c.12439T>C (p.Trp4147Arg)
c.12511T>C (p.Trp4171Arg)
1g.237784190T>GCA345413425RYR2c.*3570T>G (n.*3570T>G)
c.12466T>G (p.Trp4156Gly)
c.12499T>G (p.Trp4167Gly)
c.4655T>G
c.12478T>G (p.Trp4160Gly)
c.2531T>G
c.12430T>G (p.Trp4144Gly)
n.3673T>G
c.12532T>G (p.Trp4178Gly)
c.12529T>G (p.Trp4177Gly)
c.12508T>G (p.Trp4170Gly)
c.12502T>G (p.Trp4168Gly)
c.12496T>G (p.Trp4166Gly)
c.12472T>G (p.Trp4158Gly)
c.12295T>G (p.Trp4099Gly)
c.12439T>G (p.Trp4147Gly)
c.12511T>G (p.Trp4171Gly)

Number of alleles fetched