Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.237784236A>CCA345413546RYR2c.*3616A>C (n.*3616A>C)
c.12512A>C (p.Asp4171Ala)
c.12545A>C (p.Asp4182Ala)
c.4701A>C
c.12524A>C (p.Asp4175Ala)
c.2577A>C
c.12476A>C (p.Asp4159Ala)
n.3719A>C
c.12578A>C (p.Asp4193Ala)
c.12575A>C (p.Asp4192Ala)
c.12554A>C (p.Asp4185Ala)
c.12548A>C (p.Asp4183Ala)
c.12542A>C (p.Asp4181Ala)
c.12518A>C (p.Asp4173Ala)
c.12341A>C (p.Asp4114Ala)
c.12485A>C (p.Asp4162Ala)
c.12557A>C (p.Asp4186Ala)
1g.237784236A>GCA345413548RYR2c.*3616A>G (n.*3616A>G)
c.12512A>G (p.Asp4171Gly)
c.12545A>G (p.Asp4182Gly)
c.4701A>G
c.12524A>G (p.Asp4175Gly)
c.2577A>G
c.12476A>G (p.Asp4159Gly)
n.3719A>G
c.12578A>G (p.Asp4193Gly)
c.12575A>G (p.Asp4192Gly)
c.12554A>G (p.Asp4185Gly)
c.12548A>G (p.Asp4183Gly)
c.12542A>G (p.Asp4181Gly)
c.12518A>G (p.Asp4173Gly)
c.12341A>G (p.Asp4114Gly)
c.12485A>G (p.Asp4162Gly)
c.12557A>G (p.Asp4186Gly)
1g.237784236A>TCA345413547RYR2c.*3616A>T (n.*3616A>T)
c.12512A>T (p.Asp4171Val)
c.12545A>T (p.Asp4182Val)
c.4701A>T
c.12524A>T (p.Asp4175Val)
c.2577A>T
c.12476A>T (p.Asp4159Val)
n.3719A>T
c.12578A>T (p.Asp4193Val)
c.12575A>T (p.Asp4192Val)
c.12554A>T (p.Asp4185Val)
c.12548A>T (p.Asp4183Val)
c.12542A>T (p.Asp4181Val)
c.12518A>T (p.Asp4173Val)
c.12341A>T (p.Asp4114Val)
c.12485A>T (p.Asp4162Val)
c.12557A>T (p.Asp4186Val)
1g.237784237C>ACA345413549RYR2c.*3617C>A (n.*3617C>A)
c.12513C>A (p.Asp4171Glu)
c.12546C>A (p.Asp4182Glu)
c.4702C>A
c.12525C>A (p.Asp4175Glu)
c.2578C>A
c.12477C>A (p.Asp4159Glu)
n.3720C>A
c.12579C>A (p.Asp4193Glu)
c.12576C>A (p.Asp4192Glu)
c.12555C>A (p.Asp4185Glu)
c.12549C>A (p.Asp4183Glu)
c.12543C>A (p.Asp4181Glu)
c.12519C>A (p.Asp4173Glu)
c.12342C>A (p.Asp4114Glu)
c.12486C>A (p.Asp4162Glu)
c.12558C>A (p.Asp4186Glu)
 ClinVar dbSNP
1g.237784237C=CA2487482436RYR2c.*3617C= (n.*3617C=)
c.12513C= (p.Asp4171=)
c.12546C= (p.Asp4182=)
c.4702C=
c.12525C= (p.Asp4175=)
c.2578C=
c.12477C= (p.Asp4159=)
n.3720C=
c.12579C= (p.Asp4193=)
c.12576C= (p.Asp4192=)
c.12555C= (p.Asp4185=)
c.12549C= (p.Asp4183=)
c.12543C= (p.Asp4181=)
c.12519C= (p.Asp4173=)
c.12342C= (p.Asp4114=)
c.12486C= (p.Asp4162=)
c.12558C= (p.Asp4186=)
1g.237784237C>GCA345413550RYR2c.*3617C>G (n.*3617C>G)
c.12513C>G (p.Asp4171Glu)
c.12546C>G (p.Asp4182Glu)
c.4702C>G
c.12525C>G (p.Asp4175Glu)
c.2578C>G
c.12477C>G (p.Asp4159Glu)
n.3720C>G
c.12579C>G (p.Asp4193Glu)
c.12576C>G (p.Asp4192Glu)
c.12555C>G (p.Asp4185Glu)
c.12549C>G (p.Asp4183Glu)
c.12543C>G (p.Asp4181Glu)
c.12519C>G (p.Asp4173Glu)
c.12342C>G (p.Asp4114Glu)
c.12486C>G (p.Asp4162Glu)
c.12558C>G (p.Asp4186Glu)
1g.237784237C>TCA424032290RYR2c.*3617C>T (n.*3617C>T)
c.12513C>T (p.Asp4171=)
c.12546C>T (p.Asp4182=)
c.4702C>T
c.12525C>T (p.Asp4175=)
c.2578C>T
c.12477C>T (p.Asp4159=)
n.3720C>T
c.12579C>T (p.Asp4193=)
c.12576C>T (p.Asp4192=)
c.12555C>T (p.Asp4185=)
c.12549C>T (p.Asp4183=)
c.12543C>T (p.Asp4181=)
c.12519C>T (p.Asp4173=)
c.12342C>T (p.Asp4114=)
c.12486C>T (p.Asp4162=)
c.12558C>T (p.Asp4186=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.237784238G>ACA007563RYR2c.*3618G>A (n.*3618G>A)
c.12514G>A (p.Val4172Met)
c.12547G>A (p.Val4183Met)
c.4703G>A
c.12526G>A (p.Val4176Met)
c.2579G>A
c.12478G>A (p.Val4160Met)
n.3721G>A
c.12580G>A (p.Val4194Met)
c.12577G>A (p.Val4193Met)
c.12556G>A (p.Val4186Met)
c.12550G>A (p.Val4184Met)
c.12544G>A (p.Val4182Met)
c.12520G>A (p.Val4174Met)
c.12343G>A (p.Val4115Met)
c.12487G>A (p.Val4163Met)
c.12559G>A (p.Val4187Met)
 ClinVar dbSNP gnomAD v4
1g.237784238G>CCA345413551RYR2c.*3618G>C (n.*3618G>C)
c.12514G>C (p.Val4172Leu)
c.12547G>C (p.Val4183Leu)
c.4703G>C
c.12526G>C (p.Val4176Leu)
c.2579G>C
c.12478G>C (p.Val4160Leu)
n.3721G>C
c.12580G>C (p.Val4194Leu)
c.12577G>C (p.Val4193Leu)
c.12556G>C (p.Val4186Leu)
c.12550G>C (p.Val4184Leu)
c.12544G>C (p.Val4182Leu)
c.12520G>C (p.Val4174Leu)
c.12343G>C (p.Val4115Leu)
c.12487G>C (p.Val4163Leu)
c.12559G>C (p.Val4187Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.237784238G=CA2487482437RYR2c.*3618G= (n.*3618G=)
c.12514G= (p.Val4172=)
c.12547G= (p.Val4183=)
c.4703G=
c.12526G= (p.Val4176=)
c.2579G=
c.12478G= (p.Val4160=)
n.3721G=
c.12580G= (p.Val4194=)
c.12577G= (p.Val4193=)
c.12556G= (p.Val4186=)
c.12550G= (p.Val4184=)
c.12544G= (p.Val4182=)
c.12520G= (p.Val4174=)
c.12343G= (p.Val4115=)
c.12487G= (p.Val4163=)
c.12559G= (p.Val4187=)
1g.237784238G>TCA345413552RYR2c.*3618G>T (n.*3618G>T)
c.12514G>T (p.Val4172Leu)
c.12547G>T (p.Val4183Leu)
c.4703G>T
c.12526G>T (p.Val4176Leu)
c.2579G>T
c.12478G>T (p.Val4160Leu)
n.3721G>T
c.12580G>T (p.Val4194Leu)
c.12577G>T (p.Val4193Leu)
c.12556G>T (p.Val4186Leu)
c.12550G>T (p.Val4184Leu)
c.12544G>T (p.Val4182Leu)
c.12520G>T (p.Val4174Leu)
c.12343G>T (p.Val4115Leu)
c.12487G>T (p.Val4163Leu)
c.12559G>T (p.Val4187Leu)
1g.237784239T>ACA345413553RYR2c.*3619T>A (n.*3619T>A)
c.12515T>A (p.Val4172Glu)
c.12548T>A (p.Val4183Glu)
c.4704T>A
c.12527T>A (p.Val4176Glu)
c.2580T>A
c.12479T>A (p.Val4160Glu)
n.3722T>A
c.12581T>A (p.Val4194Glu)
c.12578T>A (p.Val4193Glu)
c.12557T>A (p.Val4186Glu)
c.12551T>A (p.Val4184Glu)
c.12545T>A (p.Val4182Glu)
c.12521T>A (p.Val4174Glu)
c.12344T>A (p.Val4115Glu)
c.12488T>A (p.Val4163Glu)
c.12560T>A (p.Val4187Glu)
1g.237784239T>CCA345413554RYR2c.*3619T>C (n.*3619T>C)
c.12515T>C (p.Val4172Ala)
c.12548T>C (p.Val4183Ala)
c.4704T>C
c.12527T>C (p.Val4176Ala)
c.2580T>C
c.12479T>C (p.Val4160Ala)
n.3722T>C
c.12581T>C (p.Val4194Ala)
c.12578T>C (p.Val4193Ala)
c.12557T>C (p.Val4186Ala)
c.12551T>C (p.Val4184Ala)
c.12545T>C (p.Val4182Ala)
c.12521T>C (p.Val4174Ala)
c.12344T>C (p.Val4115Ala)
c.12488T>C (p.Val4163Ala)
c.12560T>C (p.Val4187Ala)
 COSMIC COSMIC
1g.237784239T>GCA345413555RYR2c.*3619T>G (n.*3619T>G)
c.12515T>G (p.Val4172Gly)
c.12548T>G (p.Val4183Gly)
c.4704T>G
c.12527T>G (p.Val4176Gly)
c.2580T>G
c.12479T>G (p.Val4160Gly)
n.3722T>G
c.12581T>G (p.Val4194Gly)
c.12578T>G (p.Val4193Gly)
c.12557T>G (p.Val4186Gly)
c.12551T>G (p.Val4184Gly)
c.12545T>G (p.Val4182Gly)
c.12521T>G (p.Val4174Gly)
c.12344T>G (p.Val4115Gly)
c.12488T>G (p.Val4163Gly)
c.12560T>G (p.Val4187Gly)
1g.237784240G>ACA066489RYR2c.*3620G>A (n.*3620G>A)
c.12516G>A (p.Val4172=)
c.12549G>A (p.Val4183=)
c.4705G>A
c.12528G>A (p.Val4176=)
c.2581G>A
c.12480G>A (p.Val4160=)
n.3723G>A
c.12582G>A (p.Val4194=)
c.12579G>A (p.Val4193=)
c.12558G>A (p.Val4186=)
c.12552G>A (p.Val4184=)
c.12546G>A (p.Val4182=)
c.12522G>A (p.Val4174=)
c.12345G>A (p.Val4115=)
c.12489G>A (p.Val4163=)
c.12561G>A (p.Val4187=)
1g.237784240G>CCA424032295RYR2c.*3620G>C (n.*3620G>C)
c.12516G>C (p.Val4172=)
c.12549G>C (p.Val4183=)
c.4705G>C
c.12528G>C (p.Val4176=)
c.2581G>C
c.12480G>C (p.Val4160=)
n.3723G>C
c.12582G>C (p.Val4194=)
c.12579G>C (p.Val4193=)
c.12558G>C (p.Val4186=)
c.12552G>C (p.Val4184=)
c.12546G>C (p.Val4182=)
c.12522G>C (p.Val4174=)
c.12345G>C (p.Val4115=)
c.12489G>C (p.Val4163=)
c.12561G>C (p.Val4187=)
1g.237784240G>TCA424032294RYR2c.*3620G>T (n.*3620G>T)
c.12516G>T (p.Val4172=)
c.12549G>T (p.Val4183=)
c.4705G>T
c.12528G>T (p.Val4176=)
c.2581G>T
c.12480G>T (p.Val4160=)
n.3723G>T
c.12582G>T (p.Val4194=)
c.12579G>T (p.Val4193=)
c.12558G>T (p.Val4186=)
c.12552G>T (p.Val4184=)
c.12546G>T (p.Val4182=)
c.12522G>T (p.Val4174=)
c.12345G>T (p.Val4115=)
c.12489G>T (p.Val4163=)
c.12561G>T (p.Val4187=)
1g.237784241G>ACA345413556RYR2c.*3621G>A (n.*3621G>A)
c.12517G>A (p.Val4173Ile)
c.12550G>A (p.Val4184Ile)
c.4706G>A
c.12529G>A (p.Val4177Ile)
c.2582G>A
c.12481G>A (p.Val4161Ile)
n.3724G>A
c.12583G>A (p.Val4195Ile)
c.12580G>A (p.Val4194Ile)
c.12559G>A (p.Val4187Ile)
c.12553G>A (p.Val4185Ile)
c.12547G>A (p.Val4183Ile)
c.12523G>A (p.Val4175Ile)
c.12346G>A (p.Val4116Ile)
c.12490G>A (p.Val4164Ile)
c.12562G>A (p.Val4188Ile)
 COSMIC COSMIC
1g.237784241G>CCA345413557RYR2c.*3621G>C (n.*3621G>C)
c.12517G>C (p.Val4173Leu)
c.12550G>C (p.Val4184Leu)
c.4706G>C
c.12529G>C (p.Val4177Leu)
c.2582G>C
c.12481G>C (p.Val4161Leu)
n.3724G>C
c.12583G>C (p.Val4195Leu)
c.12580G>C (p.Val4194Leu)
c.12559G>C (p.Val4187Leu)
c.12553G>C (p.Val4185Leu)
c.12547G>C (p.Val4183Leu)
c.12523G>C (p.Val4175Leu)
c.12346G>C (p.Val4116Leu)
c.12490G>C (p.Val4164Leu)
c.12562G>C (p.Val4188Leu)
1g.237784241G>TCA345413558RYR2c.*3621G>T (n.*3621G>T)
c.12517G>T (p.Val4173Phe)
c.12550G>T (p.Val4184Phe)
c.4706G>T
c.12529G>T (p.Val4177Phe)
c.2582G>T
c.12481G>T (p.Val4161Phe)
n.3724G>T
c.12583G>T (p.Val4195Phe)
c.12580G>T (p.Val4194Phe)
c.12559G>T (p.Val4187Phe)
c.12553G>T (p.Val4185Phe)
c.12547G>T (p.Val4183Phe)
c.12523G>T (p.Val4175Phe)
c.12346G>T (p.Val4116Phe)
c.12490G>T (p.Val4164Phe)
c.12562G>T (p.Val4188Phe)
1g.237784242T>ACA345413561RYR2c.*3622T>A (n.*3622T>A)
c.12518T>A (p.Val4173Asp)
c.12551T>A (p.Val4184Asp)
c.4707T>A
c.12530T>A (p.Val4177Asp)
c.2583T>A
c.12482T>A (p.Val4161Asp)
n.3725T>A
c.12584T>A (p.Val4195Asp)
c.12581T>A (p.Val4194Asp)
c.12560T>A (p.Val4187Asp)
c.12554T>A (p.Val4185Asp)
c.12548T>A (p.Val4183Asp)
c.12524T>A (p.Val4175Asp)
c.12347T>A (p.Val4116Asp)
c.12491T>A (p.Val4164Asp)
c.12563T>A (p.Val4188Asp)
 ClinVar dbSNP
1g.237784242T>CCA345413560RYR2c.*3622T>C (n.*3622T>C)
c.12518T>C (p.Val4173Ala)
c.12551T>C (p.Val4184Ala)
c.4707T>C
c.12530T>C (p.Val4177Ala)
c.2583T>C
c.12482T>C (p.Val4161Ala)
n.3725T>C
c.12584T>C (p.Val4195Ala)
c.12581T>C (p.Val4194Ala)
c.12560T>C (p.Val4187Ala)
c.12554T>C (p.Val4185Ala)
c.12548T>C (p.Val4183Ala)
c.12524T>C (p.Val4175Ala)
c.12347T>C (p.Val4116Ala)
c.12491T>C (p.Val4164Ala)
c.12563T>C (p.Val4188Ala)
 ClinVar dbSNP
1g.237784242T>GCA345413559RYR2c.*3622T>G (n.*3622T>G)
c.12518T>G (p.Val4173Gly)
c.12551T>G (p.Val4184Gly)
c.4707T>G
c.12530T>G (p.Val4177Gly)
c.2583T>G
c.12482T>G (p.Val4161Gly)
n.3725T>G
c.12584T>G (p.Val4195Gly)
c.12581T>G (p.Val4194Gly)
c.12560T>G (p.Val4187Gly)
c.12554T>G (p.Val4185Gly)
c.12548T>G (p.Val4183Gly)
c.12524T>G (p.Val4175Gly)
c.12347T>G (p.Val4116Gly)
c.12491T>G (p.Val4164Gly)
c.12563T>G (p.Val4188Gly)
1g.237784242T=CA2487482438RYR2c.*3622T= (n.*3622T=)
c.12518T= (p.Val4173=)
c.12551T= (p.Val4184=)
c.4707T=
c.12530T= (p.Val4177=)
c.2583T=
c.12482T= (p.Val4161=)
n.3725T=
c.12584T= (p.Val4195=)
c.12581T= (p.Val4194=)
c.12560T= (p.Val4187=)
c.12554T= (p.Val4185=)
c.12548T= (p.Val4183=)
c.12524T= (p.Val4175=)
c.12347T= (p.Val4116=)
c.12491T= (p.Val4164=)
c.12563T= (p.Val4188=)
1g.237784243C>ACA424032296RYR2c.*3623C>A (n.*3623C>A)
c.12519C>A (p.Val4173=)
c.12552C>A (p.Val4184=)
c.4708C>A
c.12531C>A (p.Val4177=)
c.2584C>A
c.12483C>A (p.Val4161=)
n.3726C>A
c.12585C>A (p.Val4195=)
c.12582C>A (p.Val4194=)
c.12561C>A (p.Val4187=)
c.12555C>A (p.Val4185=)
c.12549C>A (p.Val4183=)
c.12525C>A (p.Val4175=)
c.12348C>A (p.Val4116=)
c.12492C>A (p.Val4164=)
c.12564C>A (p.Val4188=)
 dbSNP gnomAD v3 gnomAD v4
1g.237784243C=CA2487482439RYR2c.*3623C= (n.*3623C=)
c.12519C= (p.Val4173=)
c.12552C= (p.Val4184=)
c.4708C=
c.12531C= (p.Val4177=)
c.2584C=
c.12483C= (p.Val4161=)
n.3726C=
c.12585C= (p.Val4195=)
c.12582C= (p.Val4194=)
c.12561C= (p.Val4187=)
c.12555C= (p.Val4185=)
c.12549C= (p.Val4183=)
c.12525C= (p.Val4175=)
c.12348C= (p.Val4116=)
c.12492C= (p.Val4164=)
c.12564C= (p.Val4188=)
1g.237784243C>GCA424032297RYR2c.*3623C>G (n.*3623C>G)
c.12519C>G (p.Val4173=)
c.12552C>G (p.Val4184=)
c.4708C>G
c.12531C>G (p.Val4177=)
c.2584C>G
c.12483C>G (p.Val4161=)
n.3726C>G
c.12585C>G (p.Val4195=)
c.12582C>G (p.Val4194=)
c.12561C>G (p.Val4187=)
c.12555C>G (p.Val4185=)
c.12549C>G (p.Val4183=)
c.12525C>G (p.Val4175=)
c.12348C>G (p.Val4116=)
c.12492C>G (p.Val4164=)
c.12564C>G (p.Val4188=)
1g.237784243C>TCA424032298RYR2c.*3623C>T (n.*3623C>T)
c.12519C>T (p.Val4173=)
c.12552C>T (p.Val4184=)
c.4708C>T
c.12531C>T (p.Val4177=)
c.2584C>T
c.12483C>T (p.Val4161=)
n.3726C>T
c.12585C>T (p.Val4195=)
c.12582C>T (p.Val4194=)
c.12561C>T (p.Val4187=)
c.12555C>T (p.Val4185=)
c.12549C>T (p.Val4183=)
c.12525C>T (p.Val4175=)
c.12348C>T (p.Val4116=)
c.12492C>T (p.Val4164=)
c.12564C>T (p.Val4188=)
1g.237784244A=CA2487482440RYR2c.*3624A= (n.*3624A=)
c.12520A= (p.Asn4174=)
c.12553A= (p.Asn4185=)
c.4709A=
c.12532A= (p.Asn4178=)
c.2585A=
c.12484A= (p.Asn4162=)
n.3727A=
c.12586A= (p.Asn4196=)
c.12583A= (p.Asn4195=)
c.12562A= (p.Asn4188=)
c.12556A= (p.Asn4186=)
c.12550A= (p.Asn4184=)
c.12526A= (p.Asn4176=)
c.12349A= (p.Asn4117=)
c.12493A= (p.Asn4165=)
c.12565A= (p.Asn4189=)
1g.237784244A>CCA345413562RYR2c.*3624A>C (n.*3624A>C)
c.12520A>C (p.Asn4174His)
c.12553A>C (p.Asn4185His)
c.4709A>C
c.12532A>C (p.Asn4178His)
c.2585A>C
c.12484A>C (p.Asn4162His)
n.3727A>C
c.12586A>C (p.Asn4196His)
c.12583A>C (p.Asn4195His)
c.12562A>C (p.Asn4188His)
c.12556A>C (p.Asn4186His)
c.12550A>C (p.Asn4184His)
c.12526A>C (p.Asn4176His)
c.12349A>C (p.Asn4117His)
c.12493A>C (p.Asn4165His)
c.12565A>C (p.Asn4189His)
1g.237784244A>GCA345413563RYR2c.*3624A>G (n.*3624A>G)
c.12520A>G (p.Asn4174Asp)
c.12553A>G (p.Asn4185Asp)
c.4709A>G
c.12532A>G (p.Asn4178Asp)
c.2585A>G
c.12484A>G (p.Asn4162Asp)
n.3727A>G
c.12586A>G (p.Asn4196Asp)
c.12583A>G (p.Asn4195Asp)
c.12562A>G (p.Asn4188Asp)
c.12556A>G (p.Asn4186Asp)
c.12550A>G (p.Asn4184Asp)
c.12526A>G (p.Asn4176Asp)
c.12349A>G (p.Asn4117Asp)
c.12493A>G (p.Asn4165Asp)
c.12565A>G (p.Asn4189Asp)
1g.237784244A>TCA345413564RYR2c.*3624A>T (n.*3624A>T)
c.12520A>T (p.Asn4174Tyr)
c.12553A>T (p.Asn4185Tyr)
c.4709A>T
c.12532A>T (p.Asn4178Tyr)
c.2585A>T
c.12484A>T (p.Asn4162Tyr)
n.3727A>T
c.12586A>T (p.Asn4196Tyr)
c.12583A>T (p.Asn4195Tyr)
c.12562A>T (p.Asn4188Tyr)
c.12556A>T (p.Asn4186Tyr)
c.12550A>T (p.Asn4184Tyr)
c.12526A>T (p.Asn4176Tyr)
c.12349A>T (p.Asn4117Tyr)
c.12493A>T (p.Asn4165Tyr)
c.12565A>T (p.Asn4189Tyr)
 ClinVar dbSNP
1g.237784245A=CA2487482441RYR2c.*3625A= (n.*3625A=)
c.12521A= (p.Asn4174=)
c.12554A= (p.Asn4185=)
c.4710A=
c.12533A= (p.Asn4178=)
c.2586A=
c.12485A= (p.Asn4162=)
n.3728A=
c.12587A= (p.Asn4196=)
c.12584A= (p.Asn4195=)
c.12563A= (p.Asn4188=)
c.12557A= (p.Asn4186=)
c.12551A= (p.Asn4184=)
c.12527A= (p.Asn4176=)
c.12350A= (p.Asn4117=)
c.12494A= (p.Asn4165=)
c.12566A= (p.Asn4189=)
1g.237784245A>CCA345413565RYR2c.*3625A>C (n.*3625A>C)
c.12521A>C (p.Asn4174Thr)
c.12554A>C (p.Asn4185Thr)
c.4710A>C
c.12533A>C (p.Asn4178Thr)
c.2586A>C
c.12485A>C (p.Asn4162Thr)
n.3728A>C
c.12587A>C (p.Asn4196Thr)
c.12584A>C (p.Asn4195Thr)
c.12563A>C (p.Asn4188Thr)
c.12557A>C (p.Asn4186Thr)
c.12551A>C (p.Asn4184Thr)
c.12527A>C (p.Asn4176Thr)
c.12350A>C (p.Asn4117Thr)
c.12494A>C (p.Asn4165Thr)
c.12566A>C (p.Asn4189Thr)
1g.237784245A>GCA007573RYR2c.*3625A>G (n.*3625A>G)
c.12521A>G (p.Asn4174Ser)
c.12554A>G (p.Asn4185Ser)
c.4710A>G
c.12533A>G (p.Asn4178Ser)
c.2586A>G
c.12485A>G (p.Asn4162Ser)
n.3728A>G
c.12587A>G (p.Asn4196Ser)
c.12584A>G (p.Asn4195Ser)
c.12563A>G (p.Asn4188Ser)
c.12557A>G (p.Asn4186Ser)
c.12551A>G (p.Asn4184Ser)
c.12527A>G (p.Asn4176Ser)
c.12350A>G (p.Asn4117Ser)
c.12494A>G (p.Asn4165Ser)
c.12566A>G (p.Asn4189Ser)
 ClinVar dbSNP
1g.237784245A>TCA345413566RYR2c.*3625A>T (n.*3625A>T)
c.12521A>T (p.Asn4174Ile)
c.12554A>T (p.Asn4185Ile)
c.4710A>T
c.12533A>T (p.Asn4178Ile)
c.2586A>T
c.12485A>T (p.Asn4162Ile)
n.3728A>T
c.12587A>T (p.Asn4196Ile)
c.12584A>T (p.Asn4195Ile)
c.12563A>T (p.Asn4188Ile)
c.12557A>T (p.Asn4186Ile)
c.12551A>T (p.Asn4184Ile)
c.12527A>T (p.Asn4176Ile)
c.12350A>T (p.Asn4117Ile)
c.12494A>T (p.Asn4165Ile)
c.12566A>T (p.Asn4189Ile)
1g.237784246C>ACA345413567RYR2c.*3626C>A (n.*3626C>A)
c.12522C>A (p.Asn4174Lys)
c.12555C>A (p.Asn4185Lys)
c.4711C>A
c.12534C>A (p.Asn4178Lys)
c.2587C>A
c.12486C>A (p.Asn4162Lys)
n.3729C>A
c.12588C>A (p.Asn4196Lys)
c.12585C>A (p.Asn4195Lys)
c.12564C>A (p.Asn4188Lys)
c.12558C>A (p.Asn4186Lys)
c.12552C>A (p.Asn4184Lys)
c.12528C>A (p.Asn4176Lys)
c.12351C>A (p.Asn4117Lys)
c.12495C>A (p.Asn4165Lys)
c.12567C>A (p.Asn4189Lys)
1g.237784246C=CA2487482442RYR2c.*3626C= (n.*3626C=)
c.12522C= (p.Asn4174=)
c.12555C= (p.Asn4185=)
c.4711C=
c.12534C= (p.Asn4178=)
c.2587C=
c.12486C= (p.Asn4162=)
n.3729C=
c.12588C= (p.Asn4196=)
c.12585C= (p.Asn4195=)
c.12564C= (p.Asn4188=)
c.12558C= (p.Asn4186=)
c.12552C= (p.Asn4184=)
c.12528C= (p.Asn4176=)
c.12351C= (p.Asn4117=)
c.12495C= (p.Asn4165=)
c.12567C= (p.Asn4189=)
1g.237784246C>GCA345413568RYR2c.*3626C>G (n.*3626C>G)
c.12522C>G (p.Asn4174Lys)
c.12555C>G (p.Asn4185Lys)
c.4711C>G
c.12534C>G (p.Asn4178Lys)
c.2587C>G
c.12486C>G (p.Asn4162Lys)
n.3729C>G
c.12588C>G (p.Asn4196Lys)
c.12585C>G (p.Asn4195Lys)
c.12564C>G (p.Asn4188Lys)
c.12558C>G (p.Asn4186Lys)
c.12552C>G (p.Asn4184Lys)
c.12528C>G (p.Asn4176Lys)
c.12351C>G (p.Asn4117Lys)
c.12495C>G (p.Asn4165Lys)
c.12567C>G (p.Asn4189Lys)
1g.237784246C>TCA424032301RYR2c.*3626C>T (n.*3626C>T)
c.12522C>T (p.Asn4174=)
c.12555C>T (p.Asn4185=)
c.4711C>T
c.12534C>T (p.Asn4178=)
c.2587C>T
c.12486C>T (p.Asn4162=)
n.3729C>T
c.12588C>T (p.Asn4196=)
c.12585C>T (p.Asn4195=)
c.12564C>T (p.Asn4188=)
c.12558C>T (p.Asn4186=)
c.12552C>T (p.Asn4184=)
c.12528C>T (p.Asn4176=)
c.12351C>T (p.Asn4117=)
c.12495C>T (p.Asn4165=)
c.12567C>T (p.Asn4189=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237784247G>ACA39827745RYR2c.*3627G>A (n.*3627G>A)
c.12523G>A (p.Glu4175Lys)
c.12556G>A (p.Glu4186Lys)
c.4712G>A
c.12535G>A (p.Glu4179Lys)
c.2588G>A
c.12487G>A (p.Glu4163Lys)
n.3730G>A
c.12589G>A (p.Glu4197Lys)
c.12586G>A (p.Glu4196Lys)
c.12565G>A (p.Glu4189Lys)
c.12559G>A (p.Glu4187Lys)
c.12553G>A (p.Glu4185Lys)
c.12529G>A (p.Glu4177Lys)
c.12352G>A (p.Glu4118Lys)
c.12496G>A (p.Glu4166Lys)
c.12568G>A (p.Glu4190Lys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
1g.237784247G>CCA345413569RYR2c.*3627G>C (n.*3627G>C)
c.12523G>C (p.Glu4175Gln)
c.12556G>C (p.Glu4186Gln)
c.4712G>C
c.12535G>C (p.Glu4179Gln)
c.2588G>C
c.12487G>C (p.Glu4163Gln)
n.3730G>C
c.12589G>C (p.Glu4197Gln)
c.12586G>C (p.Glu4196Gln)
c.12565G>C (p.Glu4189Gln)
c.12559G>C (p.Glu4187Gln)
c.12553G>C (p.Glu4185Gln)
c.12529G>C (p.Glu4177Gln)
c.12352G>C (p.Glu4118Gln)
c.12496G>C (p.Glu4166Gln)
c.12568G>C (p.Glu4190Gln)
 gnomAD v4
1g.237784247G=CA2487482443RYR2c.*3627G= (n.*3627G=)
c.12523G= (p.Glu4175=)
c.12556G= (p.Glu4186=)
c.4712G=
c.12535G= (p.Glu4179=)
c.2588G=
c.12487G= (p.Glu4163=)
n.3730G=
c.12589G= (p.Glu4197=)
c.12586G= (p.Glu4196=)
c.12565G= (p.Glu4189=)
c.12559G= (p.Glu4187=)
c.12553G= (p.Glu4185=)
c.12529G= (p.Glu4177=)
c.12352G= (p.Glu4118=)
c.12496G= (p.Glu4166=)
c.12568G= (p.Glu4190=)
1g.237784247G>TCA345413570RYR2c.*3627G>T (n.*3627G>T)
c.12523G>T (p.Glu4175Ter)
c.12556G>T (p.Glu4186Ter)
c.4712G>T
c.12535G>T (p.Glu4179Ter)
c.2588G>T
c.12487G>T (p.Glu4163Ter)
n.3730G>T
c.12589G>T (p.Glu4197Ter)
c.12586G>T (p.Glu4196Ter)
c.12565G>T (p.Glu4189Ter)
c.12559G>T (p.Glu4187Ter)
c.12553G>T (p.Glu4185Ter)
c.12529G>T (p.Glu4177Ter)
c.12352G>T (p.Glu4118Ter)
c.12496G>T (p.Glu4166Ter)
c.12568G>T (p.Glu4190Ter)
1g.237784248A>CCA345413573RYR2c.*3628A>C (n.*3628A>C)
c.12524A>C (p.Glu4175Ala)
c.12557A>C (p.Glu4186Ala)
c.4713A>C
c.12536A>C (p.Glu4179Ala)
c.2589A>C
c.12488A>C (p.Glu4163Ala)
n.3731A>C
c.12590A>C (p.Glu4197Ala)
c.12587A>C (p.Glu4196Ala)
c.12566A>C (p.Glu4189Ala)
c.12560A>C (p.Glu4187Ala)
c.12554A>C (p.Glu4185Ala)
c.12530A>C (p.Glu4177Ala)
c.12353A>C (p.Glu4118Ala)
c.12497A>C (p.Glu4166Ala)
c.12569A>C (p.Glu4190Ala)
1g.237784248A>GCA345413572RYR2c.*3628A>G (n.*3628A>G)
c.12524A>G (p.Glu4175Gly)
c.12557A>G (p.Glu4186Gly)
c.4713A>G
c.12536A>G (p.Glu4179Gly)
c.2589A>G
c.12488A>G (p.Glu4163Gly)
n.3731A>G
c.12590A>G (p.Glu4197Gly)
c.12587A>G (p.Glu4196Gly)
c.12566A>G (p.Glu4189Gly)
c.12560A>G (p.Glu4187Gly)
c.12554A>G (p.Glu4185Gly)
c.12530A>G (p.Glu4177Gly)
c.12353A>G (p.Glu4118Gly)
c.12497A>G (p.Glu4166Gly)
c.12569A>G (p.Glu4190Gly)
1g.237784248A>TCA345413571RYR2c.*3628A>T (n.*3628A>T)
c.12524A>T (p.Glu4175Val)
c.12557A>T (p.Glu4186Val)
c.4713A>T
c.12536A>T (p.Glu4179Val)
c.2589A>T
c.12488A>T (p.Glu4163Val)
n.3731A>T
c.12590A>T (p.Glu4197Val)
c.12587A>T (p.Glu4196Val)
c.12566A>T (p.Glu4189Val)
c.12560A>T (p.Glu4187Val)
c.12554A>T (p.Glu4185Val)
c.12530A>T (p.Glu4177Val)
c.12353A>T (p.Glu4118Val)
c.12497A>T (p.Glu4166Val)
c.12569A>T (p.Glu4190Val)
1g.237784249A>CCA345413574RYR2c.*3629A>C (n.*3629A>C)
c.12525A>C (p.Glu4175Asp)
c.12558A>C (p.Glu4186Asp)
c.4714A>C
c.12537A>C (p.Glu4179Asp)
c.2590A>C
c.12489A>C (p.Glu4163Asp)
n.3732A>C
c.12591A>C (p.Glu4197Asp)
c.12588A>C (p.Glu4196Asp)
c.12567A>C (p.Glu4189Asp)
c.12561A>C (p.Glu4187Asp)
c.12555A>C (p.Glu4185Asp)
c.12531A>C (p.Glu4177Asp)
c.12354A>C (p.Glu4118Asp)
c.12498A>C (p.Glu4166Asp)
c.12570A>C (p.Glu4190Asp)
1g.237784249A>GCA066495RYR2c.*3629A>G (n.*3629A>G)
c.12525A>G (p.Glu4175=)
c.12558A>G (p.Glu4186=)
c.4714A>G
c.12537A>G (p.Glu4179=)
c.2590A>G
c.12489A>G (p.Glu4163=)
n.3732A>G
c.12591A>G (p.Glu4197=)
c.12588A>G (p.Glu4196=)
c.12567A>G (p.Glu4189=)
c.12561A>G (p.Glu4187=)
c.12555A>G (p.Glu4185=)
c.12531A>G (p.Glu4177=)
c.12354A>G (p.Glu4118=)
c.12498A>G (p.Glu4166=)
c.12570A>G (p.Glu4190=)
1g.237784249A>TCA345413575RYR2c.*3629A>T (n.*3629A>T)
c.12525A>T (p.Glu4175Asp)
c.12558A>T (p.Glu4186Asp)
c.4714A>T
c.12537A>T (p.Glu4179Asp)
c.2590A>T
c.12489A>T (p.Glu4163Asp)
n.3732A>T
c.12591A>T (p.Glu4197Asp)
c.12588A>T (p.Glu4196Asp)
c.12567A>T (p.Glu4189Asp)
c.12561A>T (p.Glu4187Asp)
c.12555A>T (p.Glu4185Asp)
c.12531A>T (p.Glu4177Asp)
c.12354A>T (p.Glu4118Asp)
c.12498A>T (p.Glu4166Asp)
c.12570A>T (p.Glu4190Asp)
1g.237784250G>ACA345413576RYR2c.*3630G>A (n.*3630G>A)
c.12526G>A (p.Gly4176Ser)
c.12559G>A (p.Gly4187Ser)
c.4715G>A
c.12538G>A (p.Gly4180Ser)
c.2591G>A
c.12490G>A (p.Gly4164Ser)
n.3733G>A
c.12592G>A (p.Gly4198Ser)
c.12589G>A (p.Gly4197Ser)
c.12568G>A (p.Gly4190Ser)
c.12562G>A (p.Gly4188Ser)
c.12556G>A (p.Gly4186Ser)
c.12532G>A (p.Gly4178Ser)
c.12355G>A (p.Gly4119Ser)
c.12499G>A (p.Gly4167Ser)
c.12571G>A (p.Gly4191Ser)
1g.237784250G>CCA085194RYR2c.*3630G>C (n.*3630G>C)
c.12526G>C (p.Gly4176Arg)
c.12559G>C (p.Gly4187Arg)
c.4715G>C
c.12538G>C (p.Gly4180Arg)
c.2591G>C
c.12490G>C (p.Gly4164Arg)
n.3733G>C
c.12592G>C (p.Gly4198Arg)
c.12589G>C (p.Gly4197Arg)
c.12568G>C (p.Gly4190Arg)
c.12562G>C (p.Gly4188Arg)
c.12556G>C (p.Gly4186Arg)
c.12532G>C (p.Gly4178Arg)
c.12355G>C (p.Gly4119Arg)
c.12499G>C (p.Gly4167Arg)
c.12571G>C (p.Gly4191Arg)
 dbSNP ExAC
1g.237784250G=CA1148267802RYR2c.*3630G= (n.*3630G=)
c.12526G= (p.Gly4176=)
c.12559G= (p.Gly4187=)
c.4715G=
c.12538G= (p.Gly4180=)
c.2591G=
c.12490G= (p.Gly4164=)
n.3733G=
c.12592G= (p.Gly4198=)
c.12589G= (p.Gly4197=)
c.12568G= (p.Gly4190=)
c.12562G= (p.Gly4188=)
c.12556G= (p.Gly4186=)
c.12532G= (p.Gly4178=)
c.12355G= (p.Gly4119=)
c.12499G= (p.Gly4167=)
c.12571G= (p.Gly4191=)
1g.237784250G>TCA345413577RYR2c.*3630G>T (n.*3630G>T)
c.12526G>T (p.Gly4176Cys)
c.12559G>T (p.Gly4187Cys)
c.4715G>T
c.12538G>T (p.Gly4180Cys)
c.2591G>T
c.12490G>T (p.Gly4164Cys)
n.3733G>T
c.12592G>T (p.Gly4198Cys)
c.12589G>T (p.Gly4197Cys)
c.12568G>T (p.Gly4190Cys)
c.12562G>T (p.Gly4188Cys)
c.12556G>T (p.Gly4186Cys)
c.12532G>T (p.Gly4178Cys)
c.12355G>T (p.Gly4119Cys)
c.12499G>T (p.Gly4167Cys)
c.12571G>T (p.Gly4191Cys)
 COSMIC COSMIC
1g.237784251G>ACA345413578RYR2c.*3631G>A (n.*3631G>A)
c.12527G>A (p.Gly4176Asp)
c.12560G>A (p.Gly4187Asp)
c.4716G>A
c.12539G>A (p.Gly4180Asp)
c.2592G>A
c.12491G>A (p.Gly4164Asp)
n.3734G>A
c.12593G>A (p.Gly4198Asp)
c.12590G>A (p.Gly4197Asp)
c.12569G>A (p.Gly4190Asp)
c.12563G>A (p.Gly4188Asp)
c.12557G>A (p.Gly4186Asp)
c.12533G>A (p.Gly4178Asp)
c.12356G>A (p.Gly4119Asp)
c.12500G>A (p.Gly4167Asp)
c.12572G>A (p.Gly4191Asp)
1g.237784251G>CCA345413579RYR2c.*3631G>C (n.*3631G>C)
c.12527G>C (p.Gly4176Ala)
c.12560G>C (p.Gly4187Ala)
c.4716G>C
c.12539G>C (p.Gly4180Ala)
c.2592G>C
c.12491G>C (p.Gly4164Ala)
n.3734G>C
c.12593G>C (p.Gly4198Ala)
c.12590G>C (p.Gly4197Ala)
c.12569G>C (p.Gly4190Ala)
c.12563G>C (p.Gly4188Ala)
c.12557G>C (p.Gly4186Ala)
c.12533G>C (p.Gly4178Ala)
c.12356G>C (p.Gly4119Ala)
c.12500G>C (p.Gly4167Ala)
c.12572G>C (p.Gly4191Ala)
1g.237784251G=CA2487482444RYR2c.*3631G= (n.*3631G=)
c.12527G= (p.Gly4176=)
c.12560G= (p.Gly4187=)
c.4716G=
c.12539G= (p.Gly4180=)
c.2592G=
c.12491G= (p.Gly4164=)
n.3734G=
c.12593G= (p.Gly4198=)
c.12590G= (p.Gly4197=)
c.12569G= (p.Gly4190=)
c.12563G= (p.Gly4188=)
c.12557G= (p.Gly4186=)
c.12533G= (p.Gly4178=)
c.12356G= (p.Gly4119=)
c.12500G= (p.Gly4167=)
c.12572G= (p.Gly4191=)
1g.237784251G>TCA345413580RYR2c.*3631G>T (n.*3631G>T)
c.12527G>T (p.Gly4176Val)
c.12560G>T (p.Gly4187Val)
c.4716G>T
c.12539G>T (p.Gly4180Val)
c.2592G>T
c.12491G>T (p.Gly4164Val)
n.3734G>T
c.12593G>T (p.Gly4198Val)
c.12590G>T (p.Gly4197Val)
c.12569G>T (p.Gly4190Val)
c.12563G>T (p.Gly4188Val)
c.12557G>T (p.Gly4186Val)
c.12533G>T (p.Gly4178Val)
c.12356G>T (p.Gly4119Val)
c.12500G>T (p.Gly4167Val)
c.12572G>T (p.Gly4191Val)
 ClinVar dbSNP
1g.237784252C>ACA424032305RYR2c.*3632C>A (n.*3632C>A)
c.12528C>A (p.Gly4176=)
c.12561C>A (p.Gly4187=)
c.4717C>A
c.12540C>A (p.Gly4180=)
c.2593C>A
c.12492C>A (p.Gly4164=)
n.3735C>A
c.12594C>A (p.Gly4198=)
c.12591C>A (p.Gly4197=)
c.12570C>A (p.Gly4190=)
c.12564C>A (p.Gly4188=)
c.12558C>A (p.Gly4186=)
c.12534C>A (p.Gly4178=)
c.12357C>A (p.Gly4119=)
c.12501C>A (p.Gly4167=)
c.12573C>A (p.Gly4191=)
 dbSNP
1g.237784252C=CA2487482445RYR2c.*3632C= (n.*3632C=)
c.12528C= (p.Gly4176=)
c.12561C= (p.Gly4187=)
c.4717C=
c.12540C= (p.Gly4180=)
c.2593C=
c.12492C= (p.Gly4164=)
n.3735C=
c.12594C= (p.Gly4198=)
c.12591C= (p.Gly4197=)
c.12570C= (p.Gly4190=)
c.12564C= (p.Gly4188=)
c.12558C= (p.Gly4186=)
c.12534C= (p.Gly4178=)
c.12357C= (p.Gly4119=)
c.12501C= (p.Gly4167=)
c.12573C= (p.Gly4191=)
1g.237784252C>GCA066498RYR2c.*3632C>G (n.*3632C>G)
c.12528C>G (p.Gly4176=)
c.12561C>G (p.Gly4187=)
c.4717C>G
c.12540C>G (p.Gly4180=)
c.2593C>G
c.12492C>G (p.Gly4164=)
n.3735C>G
c.12594C>G (p.Gly4198=)
c.12591C>G (p.Gly4197=)
c.12570C>G (p.Gly4190=)
c.12564C>G (p.Gly4188=)
c.12558C>G (p.Gly4186=)
c.12534C>G (p.Gly4178=)
c.12357C>G (p.Gly4119=)
c.12501C>G (p.Gly4167=)
c.12573C>G (p.Gly4191=)
1g.237784252C>TCA085195RYR2c.*3632C>T (n.*3632C>T)
c.12528C>T (p.Gly4176=)
c.12561C>T (p.Gly4187=)
c.4717C>T
c.12540C>T (p.Gly4180=)
c.2593C>T
c.12492C>T (p.Gly4164=)
n.3735C>T
c.12594C>T (p.Gly4198=)
c.12591C>T (p.Gly4197=)
c.12570C>T (p.Gly4190=)
c.12564C>T (p.Gly4188=)
c.12558C>T (p.Gly4186=)
c.12534C>T (p.Gly4178=)
c.12357C>T (p.Gly4119=)
c.12501C>T (p.Gly4167=)
c.12573C>T (p.Gly4191=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237784253G>ACA085196RYR2c.*3633G>A (n.*3633G>A)
c.12529G>A (p.Gly4177Arg)
c.12562G>A (p.Gly4188Arg)
c.4718G>A
c.12541G>A (p.Gly4181Arg)
c.2594G>A
c.12493G>A (p.Gly4165Arg)
n.3736G>A
c.12595G>A (p.Gly4199Arg)
c.12592G>A (p.Gly4198Arg)
c.12571G>A (p.Gly4191Arg)
c.12565G>A (p.Gly4189Arg)
c.12559G>A (p.Gly4187Arg)
c.12535G>A (p.Gly4179Arg)
c.12358G>A (p.Gly4120Arg)
c.12502G>A (p.Gly4168Arg)
c.12574G>A (p.Gly4192Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237784253G>CCA345413581RYR2c.*3633G>C (n.*3633G>C)
c.12529G>C (p.Gly4177Arg)
c.12562G>C (p.Gly4188Arg)
c.4718G>C
c.12541G>C (p.Gly4181Arg)
c.2594G>C
c.12493G>C (p.Gly4165Arg)
n.3736G>C
c.12595G>C (p.Gly4199Arg)
c.12592G>C (p.Gly4198Arg)
c.12571G>C (p.Gly4191Arg)
c.12565G>C (p.Gly4189Arg)
c.12559G>C (p.Gly4187Arg)
c.12535G>C (p.Gly4179Arg)
c.12358G>C (p.Gly4120Arg)
c.12502G>C (p.Gly4168Arg)
c.12574G>C (p.Gly4192Arg)
1g.237784253G=CA2487482446RYR2c.*3633G= (n.*3633G=)
c.12529G= (p.Gly4177=)
c.12562G= (p.Gly4188=)
c.4718G=
c.12541G= (p.Gly4181=)
c.2594G=
c.12493G= (p.Gly4165=)
n.3736G=
c.12595G= (p.Gly4199=)
c.12592G= (p.Gly4198=)
c.12571G= (p.Gly4191=)
c.12565G= (p.Gly4189=)
c.12559G= (p.Gly4187=)
c.12535G= (p.Gly4179=)
c.12358G= (p.Gly4120=)
c.12502G= (p.Gly4168=)
c.12574G= (p.Gly4192=)
1g.237784253G>TCA345413582RYR2c.*3633G>T (n.*3633G>T)
c.12529G>T (p.Gly4177Ter)
c.12562G>T (p.Gly4188Ter)
c.4718G>T
c.12541G>T (p.Gly4181Ter)
c.2594G>T
c.12493G>T (p.Gly4165Ter)
n.3736G>T
c.12595G>T (p.Gly4199Ter)
c.12592G>T (p.Gly4198Ter)
c.12571G>T (p.Gly4191Ter)
c.12565G>T (p.Gly4189Ter)
c.12559G>T (p.Gly4187Ter)
c.12535G>T (p.Gly4179Ter)
c.12358G>T (p.Gly4120Ter)
c.12502G>T (p.Gly4168Ter)
c.12574G>T (p.Gly4192Ter)
1g.237784253_237784254insACA645515552RYR2c.*3633_*3634insA (n.*3633_*3634insA)
c.12529_12530insA (p.Gly4177GlufsTer19)
c.12562_12563insA (p.Gly4188GlufsTer19)
c.4718_4719insA
c.12541_12542insA (p.Gly4181GlufsTer19)
c.2594_2595insA
c.12493_12494insA (p.Gly4165GlufsTer19)
n.3736_3737insA
c.12595_12596insA (p.Gly4199GlufsTer19)
c.12592_12593insA (p.Gly4198GlufsTer19)
c.12571_12572insA (p.Gly4191GlufsTer19)
c.12565_12566insA (p.Gly4189GlufsTer19)
c.12559_12560insA (p.Gly4187GlufsTer19)
c.12535_12536insA (p.Gly4179GlufsTer19)
c.12358_12359insA (p.Gly4120GlufsTer19)
c.12502_12503insA (p.Gly4168GlufsTer19)
c.12574_12575insA (p.Gly4192GlufsTer19)
 COSMIC COSMIC
1g.237784254G>ACA345413585RYR2c.*3634G>A (n.*3634G>A)
c.12530G>A (p.Gly4177Glu)
c.12563G>A (p.Gly4188Glu)
c.4719G>A
c.12542G>A (p.Gly4181Glu)
c.2595G>A
c.12494G>A (p.Gly4165Glu)
n.3737G>A
c.12596G>A (p.Gly4199Glu)
c.12593G>A (p.Gly4198Glu)
c.12572G>A (p.Gly4191Glu)
c.12566G>A (p.Gly4189Glu)
c.12560G>A (p.Gly4187Glu)
c.12536G>A (p.Gly4179Glu)
c.12359G>A (p.Gly4120Glu)
c.12503G>A (p.Gly4168Glu)
c.12575G>A (p.Gly4192Glu)
1g.237784254G>CCA345413583RYR2c.*3634G>C (n.*3634G>C)
c.12530G>C (p.Gly4177Ala)
c.12563G>C (p.Gly4188Ala)
c.4719G>C
c.12542G>C (p.Gly4181Ala)
c.2595G>C
c.12494G>C (p.Gly4165Ala)
n.3737G>C
c.12596G>C (p.Gly4199Ala)
c.12593G>C (p.Gly4198Ala)
c.12572G>C (p.Gly4191Ala)
c.12566G>C (p.Gly4189Ala)
c.12560G>C (p.Gly4187Ala)
c.12536G>C (p.Gly4179Ala)
c.12359G>C (p.Gly4120Ala)
c.12503G>C (p.Gly4168Ala)
c.12575G>C (p.Gly4192Ala)
1g.237784254G>TCA345413584RYR2c.*3634G>T (n.*3634G>T)
c.12530G>T (p.Gly4177Val)
c.12563G>T (p.Gly4188Val)
c.4719G>T
c.12542G>T (p.Gly4181Val)
c.2595G>T
c.12494G>T (p.Gly4165Val)
n.3737G>T
c.12596G>T (p.Gly4199Val)
c.12593G>T (p.Gly4198Val)
c.12572G>T (p.Gly4191Val)
c.12566G>T (p.Gly4189Val)
c.12560G>T (p.Gly4187Val)
c.12536G>T (p.Gly4179Val)
c.12359G>T (p.Gly4120Val)
c.12503G>T (p.Gly4168Val)
c.12575G>T (p.Gly4192Val)
1g.237784255A>CCA424032309RYR2c.*3635A>C (n.*3635A>C)
c.12531A>C (p.Gly4177=)
c.12564A>C (p.Gly4188=)
c.4720A>C
c.12543A>C (p.Gly4181=)
c.2596A>C
c.12495A>C (p.Gly4165=)
n.3738A>C
c.12597A>C (p.Gly4199=)
c.12594A>C (p.Gly4198=)
c.12573A>C (p.Gly4191=)
c.12567A>C (p.Gly4189=)
c.12561A>C (p.Gly4187=)
c.12537A>C (p.Gly4179=)
c.12360A>C (p.Gly4120=)
c.12504A>C (p.Gly4168=)
c.12576A>C (p.Gly4192=)
1g.237784255A>GCA424032308RYR2c.*3635A>G (n.*3635A>G)
c.12531A>G (p.Gly4177=)
c.12564A>G (p.Gly4188=)
c.4720A>G
c.12543A>G (p.Gly4181=)
c.2596A>G
c.12495A>G (p.Gly4165=)
n.3738A>G
c.12597A>G (p.Gly4199=)
c.12594A>G (p.Gly4198=)
c.12573A>G (p.Gly4191=)
c.12567A>G (p.Gly4189=)
c.12561A>G (p.Gly4187=)
c.12537A>G (p.Gly4179=)
c.12360A>G (p.Gly4120=)
c.12504A>G (p.Gly4168=)
c.12576A>G (p.Gly4192=)
1g.237784255A>TCA424032307RYR2c.*3635A>T (n.*3635A>T)
c.12531A>T (p.Gly4177=)
c.12564A>T (p.Gly4188=)
c.4720A>T
c.12543A>T (p.Gly4181=)
c.2596A>T
c.12495A>T (p.Gly4165=)
n.3738A>T
c.12597A>T (p.Gly4199=)
c.12594A>T (p.Gly4198=)
c.12573A>T (p.Gly4191=)
c.12567A>T (p.Gly4189=)
c.12561A>T (p.Gly4187=)
c.12537A>T (p.Gly4179=)
c.12360A>T (p.Gly4120=)
c.12504A>T (p.Gly4168=)
c.12576A>T (p.Gly4192=)
1g.237784256G>ACA345413586RYR2c.*3636G>A (n.*3636G>A)
c.12532G>A (p.Glu4178Lys)
c.12565G>A (p.Glu4189Lys)
c.4721G>A
c.12544G>A (p.Glu4182Lys)
c.2597G>A
c.12496G>A (p.Glu4166Lys)
n.3739G>A
c.12598G>A (p.Glu4200Lys)
c.12595G>A (p.Glu4199Lys)
c.12574G>A (p.Glu4192Lys)
c.12568G>A (p.Glu4190Lys)
c.12562G>A (p.Glu4188Lys)
c.12538G>A (p.Glu4180Lys)
c.12361G>A (p.Glu4121Lys)
c.12505G>A (p.Glu4169Lys)
c.12577G>A (p.Glu4193Lys)
1g.237784256G>CCA007580RYR2c.*3636G>C (n.*3636G>C)
c.12532G>C (p.Glu4178Gln)
c.12565G>C (p.Glu4189Gln)
c.4721G>C
c.12544G>C (p.Glu4182Gln)
c.2597G>C
c.12496G>C (p.Glu4166Gln)
n.3739G>C
c.12598G>C (p.Glu4200Gln)
c.12595G>C (p.Glu4199Gln)
c.12574G>C (p.Glu4192Gln)
c.12568G>C (p.Glu4190Gln)
c.12562G>C (p.Glu4188Gln)
c.12538G>C (p.Glu4180Gln)
c.12361G>C (p.Glu4121Gln)
c.12505G>C (p.Glu4169Gln)
c.12577G>C (p.Glu4193Gln)
 ClinVar dbSNP
1g.237784256G=CA1144229304RYR2c.*3636G= (n.*3636G=)
c.12532G= (p.Glu4178=)
c.12565G= (p.Glu4189=)
c.4721G=
c.12544G= (p.Glu4182=)
c.2597G=
c.12496G= (p.Glu4166=)
n.3739G=
c.12598G= (p.Glu4200=)
c.12595G= (p.Glu4199=)
c.12574G= (p.Glu4192=)
c.12568G= (p.Glu4190=)
c.12562G= (p.Glu4188=)
c.12538G= (p.Glu4180=)
c.12361G= (p.Glu4121=)
c.12505G= (p.Glu4169=)
c.12577G= (p.Glu4193=)
1g.237784256G>TCA345413587RYR2c.*3636G>T (n.*3636G>T)
c.12532G>T (p.Glu4178Ter)
c.12565G>T (p.Glu4189Ter)
c.4721G>T
c.12544G>T (p.Glu4182Ter)
c.2597G>T
c.12496G>T (p.Glu4166Ter)
n.3739G>T
c.12598G>T (p.Glu4200Ter)
c.12595G>T (p.Glu4199Ter)
c.12574G>T (p.Glu4192Ter)
c.12568G>T (p.Glu4190Ter)
c.12562G>T (p.Glu4188Ter)
c.12538G>T (p.Glu4180Ter)
c.12361G>T (p.Glu4121Ter)
c.12505G>T (p.Glu4169Ter)
c.12577G>T (p.Glu4193Ter)
1g.237784257A=CA2487482447RYR2c.*3637A= (n.*3637A=)
c.12533A= (p.Glu4178=)
c.12566A= (p.Glu4189=)
c.4722A=
c.12545A= (p.Glu4182=)
c.2598A=
c.12497A= (p.Glu4166=)
n.3740A=
c.12599A= (p.Glu4200=)
c.12596A= (p.Glu4199=)
c.12575A= (p.Glu4192=)
c.12569A= (p.Glu4190=)
c.12563A= (p.Glu4188=)
c.12539A= (p.Glu4180=)
c.12362A= (p.Glu4121=)
c.12506A= (p.Glu4169=)
c.12578A= (p.Glu4193=)
1g.237784257A>CCA007588RYR2c.*3637A>C (n.*3637A>C)
c.12533A>C (p.Glu4178Ala)
c.12566A>C (p.Glu4189Ala)
c.4722A>C
c.12545A>C (p.Glu4182Ala)
c.2598A>C
c.12497A>C (p.Glu4166Ala)
n.3740A>C
c.12599A>C (p.Glu4200Ala)
c.12596A>C (p.Glu4199Ala)
c.12575A>C (p.Glu4192Ala)
c.12569A>C (p.Glu4190Ala)
c.12563A>C (p.Glu4188Ala)
c.12539A>C (p.Glu4180Ala)
c.12362A>C (p.Glu4121Ala)
c.12506A>C (p.Glu4169Ala)
c.12578A>C (p.Glu4193Ala)
 ClinVar dbSNP
1g.237784257A>GCA345413588RYR2c.*3637A>G (n.*3637A>G)
c.12533A>G (p.Glu4178Gly)
c.12566A>G (p.Glu4189Gly)
c.4722A>G
c.12545A>G (p.Glu4182Gly)
c.2598A>G
c.12497A>G (p.Glu4166Gly)
n.3740A>G
c.12599A>G (p.Glu4200Gly)
c.12596A>G (p.Glu4199Gly)
c.12575A>G (p.Glu4192Gly)
c.12569A>G (p.Glu4190Gly)
c.12563A>G (p.Glu4188Gly)
c.12539A>G (p.Glu4180Gly)
c.12362A>G (p.Glu4121Gly)
c.12506A>G (p.Glu4169Gly)
c.12578A>G (p.Glu4193Gly)
1g.237784257A>TCA345413589RYR2c.*3637A>T (n.*3637A>T)
c.12533A>T (p.Glu4178Val)
c.12566A>T (p.Glu4189Val)
c.4722A>T
c.12545A>T (p.Glu4182Val)
c.2598A>T
c.12497A>T (p.Glu4166Val)
n.3740A>T
c.12599A>T (p.Glu4200Val)
c.12596A>T (p.Glu4199Val)
c.12575A>T (p.Glu4192Val)
c.12569A>T (p.Glu4190Val)
c.12563A>T (p.Glu4188Val)
c.12539A>T (p.Glu4180Val)
c.12362A>T (p.Glu4121Val)
c.12506A>T (p.Glu4169Val)
c.12578A>T (p.Glu4193Val)
1g.237784258G>ACA424032310RYR2c.*3638G>A (n.*3638G>A)
c.12534G>A (p.Glu4178=)
c.12567G>A (p.Glu4189=)
c.4723G>A
c.12546G>A (p.Glu4182=)
c.2599G>A
c.12498G>A (p.Glu4166=)
n.3741G>A
c.12600G>A (p.Glu4200=)
c.12597G>A (p.Glu4199=)
c.12576G>A (p.Glu4192=)
c.12570G>A (p.Glu4190=)
c.12564G>A (p.Glu4188=)
c.12540G>A (p.Glu4180=)
c.12363G>A (p.Glu4121=)
c.12507G>A (p.Glu4169=)
c.12579G>A (p.Glu4193=)
1g.237784258G>CCA345413590RYR2c.*3638G>C (n.*3638G>C)
c.12534G>C (p.Glu4178Asp)
c.12567G>C (p.Glu4189Asp)
c.4723G>C
c.12546G>C (p.Glu4182Asp)
c.2599G>C
c.12498G>C (p.Glu4166Asp)
n.3741G>C
c.12600G>C (p.Glu4200Asp)
c.12597G>C (p.Glu4199Asp)
c.12576G>C (p.Glu4192Asp)
c.12570G>C (p.Glu4190Asp)
c.12564G>C (p.Glu4188Asp)
c.12540G>C (p.Glu4180Asp)
c.12363G>C (p.Glu4121Asp)
c.12507G>C (p.Glu4169Asp)
c.12579G>C (p.Glu4193Asp)
1g.237784258G>TCA345413591RYR2c.*3638G>T (n.*3638G>T)
c.12534G>T (p.Glu4178Asp)
c.12567G>T (p.Glu4189Asp)
c.4723G>T
c.12546G>T (p.Glu4182Asp)
c.2599G>T
c.12498G>T (p.Glu4166Asp)
n.3741G>T
c.12600G>T (p.Glu4200Asp)
c.12597G>T (p.Glu4199Asp)
c.12576G>T (p.Glu4192Asp)
c.12570G>T (p.Glu4190Asp)
c.12564G>T (p.Glu4188Asp)
c.12540G>T (p.Glu4180Asp)
c.12363G>T (p.Glu4121Asp)
c.12507G>T (p.Glu4169Asp)
c.12579G>T (p.Glu4193Asp)
 COSMIC COSMIC
1g.237784259A>CCA345413592RYR2c.*3639A>C (n.*3639A>C)
c.12535A>C (p.Lys4179Gln)
c.12568A>C (p.Lys4190Gln)
c.4724A>C
c.12547A>C (p.Lys4183Gln)
c.2600A>C
c.12499A>C (p.Lys4167Gln)
n.3742A>C
c.12601A>C (p.Lys4201Gln)
c.12598A>C (p.Lys4200Gln)
c.12577A>C (p.Lys4193Gln)
c.12571A>C (p.Lys4191Gln)
c.12565A>C (p.Lys4189Gln)
c.12541A>C (p.Lys4181Gln)
c.12364A>C (p.Lys4122Gln)
c.12508A>C (p.Lys4170Gln)
c.12580A>C (p.Lys4194Gln)
1g.237784259A>GCA345413593RYR2c.*3639A>G (n.*3639A>G)
c.12535A>G (p.Lys4179Glu)
c.12568A>G (p.Lys4190Glu)
c.4724A>G
c.12547A>G (p.Lys4183Glu)
c.2600A>G
c.12499A>G (p.Lys4167Glu)
n.3742A>G
c.12601A>G (p.Lys4201Glu)
c.12598A>G (p.Lys4200Glu)
c.12577A>G (p.Lys4193Glu)
c.12571A>G (p.Lys4191Glu)
c.12565A>G (p.Lys4189Glu)
c.12541A>G (p.Lys4181Glu)
c.12364A>G (p.Lys4122Glu)
c.12508A>G (p.Lys4170Glu)
c.12580A>G (p.Lys4194Glu)
1g.237784259A>TCA345413594RYR2c.*3639A>T (n.*3639A>T)
c.12535A>T (p.Lys4179Ter)
c.12568A>T (p.Lys4190Ter)
c.4724A>T
c.12547A>T (p.Lys4183Ter)
c.2600A>T
c.12499A>T (p.Lys4167Ter)
n.3742A>T
c.12601A>T (p.Lys4201Ter)
c.12598A>T (p.Lys4200Ter)
c.12577A>T (p.Lys4193Ter)
c.12571A>T (p.Lys4191Ter)
c.12565A>T (p.Lys4189Ter)
c.12541A>T (p.Lys4181Ter)
c.12364A>T (p.Lys4122Ter)
c.12508A>T (p.Lys4170Ter)
c.12580A>T (p.Lys4194Ter)
1g.237784261dupCA2586964600RYR2c.*3641dup (n.*3641dup)
c.12537dup (p.Glu4180ArgfsTer16)
c.12570dup (p.Glu4191ArgfsTer16)
c.4726dup
c.12549dup (p.Glu4184ArgfsTer16)
c.2602dup
c.12501dup (p.Glu4168ArgfsTer16)
n.3744dup
c.12603dup (p.Glu4202ArgfsTer16)
c.12600dup (p.Glu4201ArgfsTer16)
c.12579dup (p.Glu4194ArgfsTer16)
c.12573dup (p.Glu4192ArgfsTer16)
c.12567dup (p.Glu4190ArgfsTer16)
c.12543dup (p.Glu4182ArgfsTer16)
c.12366dup (p.Glu4123ArgfsTer16)
c.12510dup (p.Glu4171ArgfsTer16)
c.12582dup (p.Glu4195ArgfsTer16)
1g.237784260_237784261delCA2574453497RYR2c.*3640_*3641del (n.*3640_*3641del)
c.12536_12537del (p.Lys4179ArgfsTer16)
c.12569_12570del (p.Lys4190ArgfsTer16)
c.4725_4726del
c.12548_12549del (p.Lys4183ArgfsTer16)
c.2601_2602del
c.12500_12501del (p.Lys4167ArgfsTer16)
n.3743_3744del
c.12602_12603del (p.Lys4201ArgfsTer16)
c.12599_12600del (p.Lys4200ArgfsTer16)
c.12578_12579del (p.Lys4193ArgfsTer16)
c.12572_12573del (p.Lys4191ArgfsTer16)
c.12566_12567del (p.Lys4189ArgfsTer16)
c.12542_12543del (p.Lys4181ArgfsTer16)
c.12365_12366del (p.Lys4122ArgfsTer16)
c.12509_12510del (p.Lys4170ArgfsTer16)
c.12581_12582del (p.Lys4194ArgfsTer16)
1g.237784260A=CA2487482448RYR2c.*3640A= (n.*3640A=)
c.12536A= (p.Lys4179=)
c.12569A= (p.Lys4190=)
c.4725A=
c.12548A= (p.Lys4183=)
c.2601A=
c.12500A= (p.Lys4167=)
n.3743A=
c.12602A= (p.Lys4201=)
c.12599A= (p.Lys4200=)
c.12578A= (p.Lys4193=)
c.12572A= (p.Lys4191=)
c.12566A= (p.Lys4189=)
c.12542A= (p.Lys4181=)
c.12365A= (p.Lys4122=)
c.12509A= (p.Lys4170=)
c.12581A= (p.Lys4194=)
1g.237784260A>CCA345413597RYR2c.*3640A>C (n.*3640A>C)
c.12536A>C (p.Lys4179Thr)
c.12569A>C (p.Lys4190Thr)
c.4725A>C
c.12548A>C (p.Lys4183Thr)
c.2601A>C
c.12500A>C (p.Lys4167Thr)
n.3743A>C
c.12602A>C (p.Lys4201Thr)
c.12599A>C (p.Lys4200Thr)
c.12578A>C (p.Lys4193Thr)
c.12572A>C (p.Lys4191Thr)
c.12566A>C (p.Lys4189Thr)
c.12542A>C (p.Lys4181Thr)
c.12365A>C (p.Lys4122Thr)
c.12509A>C (p.Lys4170Thr)
c.12581A>C (p.Lys4194Thr)
1g.237784260A>GCA345413596RYR2c.*3640A>G (n.*3640A>G)
c.12536A>G (p.Lys4179Arg)
c.12569A>G (p.Lys4190Arg)
c.4725A>G
c.12548A>G (p.Lys4183Arg)
c.2601A>G
c.12500A>G (p.Lys4167Arg)
n.3743A>G
c.12602A>G (p.Lys4201Arg)
c.12599A>G (p.Lys4200Arg)
c.12578A>G (p.Lys4193Arg)
c.12572A>G (p.Lys4191Arg)
c.12566A>G (p.Lys4189Arg)
c.12542A>G (p.Lys4181Arg)
c.12365A>G (p.Lys4122Arg)
c.12509A>G (p.Lys4170Arg)
c.12581A>G (p.Lys4194Arg)
1g.237784260A>TCA345413595RYR2c.*3640A>T (n.*3640A>T)
c.12536A>T (p.Lys4179Ile)
c.12569A>T (p.Lys4190Ile)
c.4725A>T
c.12548A>T (p.Lys4183Ile)
c.2601A>T
c.12500A>T (p.Lys4167Ile)
n.3743A>T
c.12602A>T (p.Lys4201Ile)
c.12599A>T (p.Lys4200Ile)
c.12578A>T (p.Lys4193Ile)
c.12572A>T (p.Lys4191Ile)
c.12566A>T (p.Lys4189Ile)
c.12542A>T (p.Lys4181Ile)
c.12365A>T (p.Lys4122Ile)
c.12509A>T (p.Lys4170Ile)
c.12581A>T (p.Lys4194Ile)
 ClinVar dbSNP
1g.237784261A=CA2487482449RYR2c.*3641A= (n.*3641A=)
c.12537A= (p.Lys4179=)
c.12570A= (p.Lys4190=)
c.4726A=
c.12549A= (p.Lys4183=)
c.2602A=
c.12501A= (p.Lys4167=)
n.3744A=
c.12603A= (p.Lys4201=)
c.12600A= (p.Lys4200=)
c.12579A= (p.Lys4193=)
c.12573A= (p.Lys4191=)
c.12567A= (p.Lys4189=)
c.12543A= (p.Lys4181=)
c.12366A= (p.Lys4122=)
c.12510A= (p.Lys4170=)
c.12582A= (p.Lys4194=)
1g.237784261A>CCA345413598RYR2c.*3641A>C (n.*3641A>C)
c.12537A>C (p.Lys4179Asn)
c.12570A>C (p.Lys4190Asn)
c.4726A>C
c.12549A>C (p.Lys4183Asn)
c.2602A>C
c.12501A>C (p.Lys4167Asn)
n.3744A>C
c.12603A>C (p.Lys4201Asn)
c.12600A>C (p.Lys4200Asn)
c.12579A>C (p.Lys4193Asn)
c.12573A>C (p.Lys4191Asn)
c.12567A>C (p.Lys4189Asn)
c.12543A>C (p.Lys4181Asn)
c.12366A>C (p.Lys4122Asn)
c.12510A>C (p.Lys4170Asn)
c.12582A>C (p.Lys4194Asn)
 ClinVar dbSNP
1g.237784261A>GCA085197RYR2c.*3641A>G (n.*3641A>G)
c.12537A>G (p.Lys4179=)
c.12570A>G (p.Lys4190=)
c.4726A>G
c.12549A>G (p.Lys4183=)
c.2602A>G
c.12501A>G (p.Lys4167=)
n.3744A>G
c.12603A>G (p.Lys4201=)
c.12600A>G (p.Lys4200=)
c.12579A>G (p.Lys4193=)
c.12573A>G (p.Lys4191=)
c.12567A>G (p.Lys4189=)
c.12543A>G (p.Lys4181=)
c.12366A>G (p.Lys4122=)
c.12510A>G (p.Lys4170=)
c.12582A>G (p.Lys4194=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784261A>TCA345413599RYR2c.*3641A>T (n.*3641A>T)
c.12537A>T (p.Lys4179Asn)
c.12570A>T (p.Lys4190Asn)
c.4726A>T
c.12549A>T (p.Lys4183Asn)
c.2602A>T
c.12501A>T (p.Lys4167Asn)
n.3744A>T
c.12603A>T (p.Lys4201Asn)
c.12600A>T (p.Lys4200Asn)
c.12579A>T (p.Lys4193Asn)
c.12573A>T (p.Lys4191Asn)
c.12567A>T (p.Lys4189Asn)
c.12543A>T (p.Lys4181Asn)
c.12366A>T (p.Lys4122Asn)
c.12510A>T (p.Lys4170Asn)
c.12582A>T (p.Lys4194Asn)
1g.237784261_237784264delinsAGAGCA2487482450RYR2c.*3641_*3644delinsAGAG (n.*3641_*3644delinsAGAG)
c.12537_12540delinsAGAG (p.Lys4179=)
c.12570_12573delinsAGAG (p.Lys4190=)
c.4726_4729delinsAGAG
c.12549_12552delinsAGAG (p.Lys4183=)
c.2602_2605delinsAGAG
c.12501_12504delinsAGAG (p.Lys4167=)
n.3744_3747delinsAGAG
c.12603_12606delinsAGAG (p.Lys4201=)
c.12600_12603delinsAGAG (p.Lys4200=)
c.12579_12582delinsAGAG (p.Lys4193=)
c.12573_12576delinsAGAG (p.Lys4191=)
c.12567_12570delinsAGAG (p.Lys4189=)
c.12543_12546delinsAGAG (p.Lys4181=)
c.12366_12369delinsAGAG (p.Lys4122=)
c.12510_12513delinsAGAG (p.Lys4170=)
c.12582_12585delinsAGAG (p.Lys4194=)
1g.237784262G>ACA345413600RYR2c.*3642G>A (n.*3642G>A)
c.12538G>A (p.Glu4180Lys)
c.12571G>A (p.Glu4191Lys)
c.4727G>A
c.12550G>A (p.Glu4184Lys)
c.2603G>A
c.12502G>A (p.Glu4168Lys)
n.3745G>A
c.12604G>A (p.Glu4202Lys)
c.12601G>A (p.Glu4201Lys)
c.12580G>A (p.Glu4194Lys)
c.12574G>A (p.Glu4192Lys)
c.12568G>A (p.Glu4190Lys)
c.12544G>A (p.Glu4182Lys)
c.12367G>A (p.Glu4123Lys)
c.12511G>A (p.Glu4171Lys)
c.12583G>A (p.Glu4195Lys)
 COSMIC COSMIC
1g.237784262G>CCA345413601RYR2c.*3642G>C (n.*3642G>C)
c.12538G>C (p.Glu4180Gln)
c.12571G>C (p.Glu4191Gln)
c.4727G>C
c.12550G>C (p.Glu4184Gln)
c.2603G>C
c.12502G>C (p.Glu4168Gln)
n.3745G>C
c.12604G>C (p.Glu4202Gln)
c.12601G>C (p.Glu4201Gln)
c.12580G>C (p.Glu4194Gln)
c.12574G>C (p.Glu4192Gln)
c.12568G>C (p.Glu4190Gln)
c.12544G>C (p.Glu4182Gln)
c.12367G>C (p.Glu4123Gln)
c.12511G>C (p.Glu4171Gln)
c.12583G>C (p.Glu4195Gln)
1g.237784262G>TCA345413602RYR2c.*3642G>T (n.*3642G>T)
c.12538G>T (p.Glu4180Ter)
c.12571G>T (p.Glu4191Ter)
c.4727G>T
c.12550G>T (p.Glu4184Ter)
c.2603G>T
c.12502G>T (p.Glu4168Ter)
n.3745G>T
c.12604G>T (p.Glu4202Ter)
c.12601G>T (p.Glu4201Ter)
c.12580G>T (p.Glu4194Ter)
c.12574G>T (p.Glu4192Ter)
c.12568G>T (p.Glu4190Ter)
c.12544G>T (p.Glu4182Ter)
c.12367G>T (p.Glu4123Ter)
c.12511G>T (p.Glu4171Ter)
c.12583G>T (p.Glu4195Ter)
1g.237784262_237784263delinsGACA2487482451RYR2c.*3642_*3643delinsGA (n.*3642_*3643delinsGA)
c.12538_12539delinsGA (p.Glu4180=)
c.12571_12572delinsGA (p.Glu4191=)
c.4727_4728delinsGA
c.12550_12551delinsGA (p.Glu4184=)
c.2603_2604delinsGA
c.12502_12503delinsGA (p.Glu4168=)
n.3745_3746delinsGA
c.12604_12605delinsGA (p.Glu4202=)
c.12601_12602delinsGA (p.Glu4201=)
c.12580_12581delinsGA (p.Glu4194=)
c.12574_12575delinsGA (p.Glu4192=)
c.12568_12569delinsGA (p.Glu4190=)
c.12544_12545delinsGA (p.Glu4182=)
c.12367_12368delinsGA (p.Glu4123=)
c.12511_12512delinsGA (p.Glu4171=)
c.12583_12584delinsGA (p.Glu4195=)
1g.237784262_237784264delCA658822785RYR2c.*3642_*3644del (n.*3642_*3644del)
c.12538_12540del (p.Glu4180del)
c.12571_12573del (p.Glu4191del)
c.4727_4729del
c.12550_12552del (p.Glu4184del)
c.2603_2605del
c.12502_12504del (p.Glu4168del)
n.3745_3747del
c.12604_12606del (p.Glu4202del)
c.12601_12603del (p.Glu4201del)
c.12580_12582del (p.Glu4194del)
c.12574_12576del (p.Glu4192del)
c.12568_12570del (p.Glu4190del)
c.12544_12546del (p.Glu4182del)
c.12367_12369del (p.Glu4123del)
c.12511_12513del (p.Glu4171del)
c.12583_12585del (p.Glu4195del)
 ClinVar dbSNP
1g.237784263delCA2487482453RYR2c.*3643del (n.*3643del)
c.12539del (p.Glu4180GlyfsTer7)
c.12572del (p.Glu4191GlyfsTer7)
c.4728del
c.12551del (p.Glu4184GlyfsTer7)
c.2604del
c.12503del (p.Glu4168GlyfsTer7)
n.3746del
c.12605del (p.Glu4202GlyfsTer7)
c.12602del (p.Glu4201GlyfsTer7)
c.12581del (p.Glu4194GlyfsTer7)
c.12575del (p.Glu4192GlyfsTer7)
c.12569del (p.Glu4190GlyfsTer7)
c.12545del (p.Glu4182GlyfsTer7)
c.12368del (p.Glu4123GlyfsTer7)
c.12512del (p.Glu4171GlyfsTer7)
c.12584del (p.Glu4195GlyfsTer7)
 dbSNP
1g.237784263A=CA2487482452RYR2c.*3643A= (n.*3643A=)
c.12539A= (p.Glu4180=)
c.12572A= (p.Glu4191=)
c.4728A=
c.12551A= (p.Glu4184=)
c.2604A=
c.12503A= (p.Glu4168=)
n.3746A=
c.12605A= (p.Glu4202=)
c.12602A= (p.Glu4201=)
c.12581A= (p.Glu4194=)
c.12575A= (p.Glu4192=)
c.12569A= (p.Glu4190=)
c.12545A= (p.Glu4182=)
c.12368A= (p.Glu4123=)
c.12512A= (p.Glu4171=)
c.12584A= (p.Glu4195=)
1g.237784263A>CCA345413603RYR2c.*3643A>C (n.*3643A>C)
c.12539A>C (p.Glu4180Ala)
c.12572A>C (p.Glu4191Ala)
c.4728A>C
c.12551A>C (p.Glu4184Ala)
c.2604A>C
c.12503A>C (p.Glu4168Ala)
n.3746A>C
c.12605A>C (p.Glu4202Ala)
c.12602A>C (p.Glu4201Ala)
c.12581A>C (p.Glu4194Ala)
c.12575A>C (p.Glu4192Ala)
c.12569A>C (p.Glu4190Ala)
c.12545A>C (p.Glu4182Ala)
c.12368A>C (p.Glu4123Ala)
c.12512A>C (p.Glu4171Ala)
c.12584A>C (p.Glu4195Ala)
1g.237784263A>GCA007596RYR2c.*3643A>G (n.*3643A>G)
c.12539A>G (p.Glu4180Gly)
c.12572A>G (p.Glu4191Gly)
c.4728A>G
c.12551A>G (p.Glu4184Gly)
c.2604A>G
c.12503A>G (p.Glu4168Gly)
n.3746A>G
c.12605A>G (p.Glu4202Gly)
c.12602A>G (p.Glu4201Gly)
c.12581A>G (p.Glu4194Gly)
c.12575A>G (p.Glu4192Gly)
c.12569A>G (p.Glu4190Gly)
c.12545A>G (p.Glu4182Gly)
c.12368A>G (p.Glu4123Gly)
c.12512A>G (p.Glu4171Gly)
c.12584A>G (p.Glu4195Gly)
 ClinVar dbSNP
1g.237784263A>TCA345413604RYR2c.*3643A>T (n.*3643A>T)
c.12539A>T (p.Glu4180Val)
c.12572A>T (p.Glu4191Val)
c.4728A>T
c.12551A>T (p.Glu4184Val)
c.2604A>T
c.12503A>T (p.Glu4168Val)
n.3746A>T
c.12605A>T (p.Glu4202Val)
c.12602A>T (p.Glu4201Val)
c.12581A>T (p.Glu4194Val)
c.12575A>T (p.Glu4192Val)
c.12569A>T (p.Glu4190Val)
c.12545A>T (p.Glu4182Val)
c.12368A>T (p.Glu4123Val)
c.12512A>T (p.Glu4171Val)
c.12584A>T (p.Glu4195Val)
1g.237784264G>ACA424032312RYR2c.*3644G>A (n.*3644G>A)
c.12540G>A (p.Glu4180=)
c.12573G>A (p.Glu4191=)
c.4729G>A
c.12552G>A (p.Glu4184=)
c.2605G>A
c.12504G>A (p.Glu4168=)
n.3747G>A
c.12606G>A (p.Glu4202=)
c.12603G>A (p.Glu4201=)
c.12582G>A (p.Glu4194=)
c.12576G>A (p.Glu4192=)
c.12570G>A (p.Glu4190=)
c.12546G>A (p.Glu4182=)
c.12369G>A (p.Glu4123=)
c.12513G>A (p.Glu4171=)
c.12585G>A (p.Glu4195=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237784264G>CCA345413605RYR2c.*3644G>C (n.*3644G>C)
c.12540G>C (p.Glu4180Asp)
c.12573G>C (p.Glu4191Asp)
c.4729G>C
c.12552G>C (p.Glu4184Asp)
c.2605G>C
c.12504G>C (p.Glu4168Asp)
n.3747G>C
c.12606G>C (p.Glu4202Asp)
c.12603G>C (p.Glu4201Asp)
c.12582G>C (p.Glu4194Asp)
c.12576G>C (p.Glu4192Asp)
c.12570G>C (p.Glu4190Asp)
c.12546G>C (p.Glu4182Asp)
c.12369G>C (p.Glu4123Asp)
c.12513G>C (p.Glu4171Asp)
c.12585G>C (p.Glu4195Asp)
1g.237784264G=CA2487482454RYR2c.*3644G= (n.*3644G=)
c.12540G= (p.Glu4180=)
c.12573G= (p.Glu4191=)
c.4729G=
c.12552G= (p.Glu4184=)
c.2605G=
c.12504G= (p.Glu4168=)
n.3747G=
c.12606G= (p.Glu4202=)
c.12603G= (p.Glu4201=)
c.12582G= (p.Glu4194=)
c.12576G= (p.Glu4192=)
c.12570G= (p.Glu4190=)
c.12546G= (p.Glu4182=)
c.12369G= (p.Glu4123=)
c.12513G= (p.Glu4171=)
c.12585G= (p.Glu4195=)
1g.237784264G>TCA345413606RYR2c.*3644G>T (n.*3644G>T)
c.12540G>T (p.Glu4180Asp)
c.12573G>T (p.Glu4191Asp)
c.4729G>T
c.12552G>T (p.Glu4184Asp)
c.2605G>T
c.12504G>T (p.Glu4168Asp)
n.3747G>T
c.12606G>T (p.Glu4202Asp)
c.12603G>T (p.Glu4201Asp)
c.12582G>T (p.Glu4194Asp)
c.12576G>T (p.Glu4192Asp)
c.12570G>T (p.Glu4190Asp)
c.12546G>T (p.Glu4182Asp)
c.12369G>T (p.Glu4123Asp)
c.12513G>T (p.Glu4171Asp)
c.12585G>T (p.Glu4195Asp)
1g.237784264_237784266delinsGAACA2487482455RYR2c.*3644_*3646delinsGAA (n.*3644_*3646delinsGAA)
c.12540_12542delinsGAA (p.Glu4180=)
c.12573_12575delinsGAA (p.Glu4191=)
c.4729_4731delinsGAA
c.12552_12554delinsGAA (p.Glu4184=)
c.2605_2607delinsGAA
c.12504_12506delinsGAA (p.Glu4168=)
n.3747_3749delinsGAA
c.12606_12608delinsGAA (p.Glu4202=)
c.12603_12605delinsGAA (p.Glu4201=)
c.12582_12584delinsGAA (p.Glu4194=)
c.12576_12578delinsGAA (p.Glu4192=)
c.12570_12572delinsGAA (p.Glu4190=)
c.12546_12548delinsGAA (p.Glu4182=)
c.12369_12371delinsGAA (p.Glu4123=)
c.12513_12515delinsGAA (p.Glu4171=)
c.12585_12587delinsGAA (p.Glu4195=)
1g.237784265A=CA2487482457RYR2c.*3645A= (n.*3645A=)
c.12541A= (p.Lys4181=)
c.12574A= (p.Lys4192=)
c.4730A=
c.12553A= (p.Lys4185=)
c.2606A=
c.12505A= (p.Lys4169=)
n.3748A=
c.12607A= (p.Lys4203=)
c.12604A= (p.Lys4202=)
c.12583A= (p.Lys4195=)
c.12577A= (p.Lys4193=)
c.12571A= (p.Lys4191=)
c.12547A= (p.Lys4183=)
c.12370A= (p.Lys4124=)
c.12514A= (p.Lys4172=)
c.12586A= (p.Lys4196=)
1g.237784265A>CCA345413607RYR2c.*3645A>C (n.*3645A>C)
c.12541A>C (p.Lys4181Gln)
c.12574A>C (p.Lys4192Gln)
c.4730A>C
c.12553A>C (p.Lys4185Gln)
c.2606A>C
c.12505A>C (p.Lys4169Gln)
n.3748A>C
c.12607A>C (p.Lys4203Gln)
c.12604A>C (p.Lys4202Gln)
c.12583A>C (p.Lys4195Gln)
c.12577A>C (p.Lys4193Gln)
c.12571A>C (p.Lys4191Gln)
c.12547A>C (p.Lys4183Gln)
c.12370A>C (p.Lys4124Gln)
c.12514A>C (p.Lys4172Gln)
c.12586A>C (p.Lys4196Gln)
1g.237784265A>GCA345413608RYR2c.*3645A>G (n.*3645A>G)
c.12541A>G (p.Lys4181Glu)
c.12574A>G (p.Lys4192Glu)
c.4730A>G
c.12553A>G (p.Lys4185Glu)
c.2606A>G
c.12505A>G (p.Lys4169Glu)
n.3748A>G
c.12607A>G (p.Lys4203Glu)
c.12604A>G (p.Lys4202Glu)
c.12583A>G (p.Lys4195Glu)
c.12577A>G (p.Lys4193Glu)
c.12571A>G (p.Lys4191Glu)
c.12547A>G (p.Lys4183Glu)
c.12370A>G (p.Lys4124Glu)
c.12514A>G (p.Lys4172Glu)
c.12586A>G (p.Lys4196Glu)
1g.237784265A>TCA345413609RYR2c.*3645A>T (n.*3645A>T)
c.12541A>T (p.Lys4181Ter)
c.12574A>T (p.Lys4192Ter)
c.4730A>T
c.12553A>T (p.Lys4185Ter)
c.2606A>T
c.12505A>T (p.Lys4169Ter)
n.3748A>T
c.12607A>T (p.Lys4203Ter)
c.12604A>T (p.Lys4202Ter)
c.12583A>T (p.Lys4195Ter)
c.12577A>T (p.Lys4193Ter)
c.12571A>T (p.Lys4191Ter)
c.12547A>T (p.Lys4183Ter)
c.12370A>T (p.Lys4124Ter)
c.12514A>T (p.Lys4172Ter)
c.12586A>T (p.Lys4196Ter)
1g.237784265_237784266delCA2487482456RYR2c.*3645_*3646del (n.*3645_*3646del)
c.12541_12542del (p.Lys4181AspfsTer14)
c.12574_12575del (p.Lys4192AspfsTer14)
c.4730_4731del
c.12553_12554del (p.Lys4185AspfsTer14)
c.2606_2607del
c.12505_12506del (p.Lys4169AspfsTer14)
n.3748_3749del
c.12607_12608del (p.Lys4203AspfsTer14)
c.12604_12605del (p.Lys4202AspfsTer14)
c.12583_12584del (p.Lys4195AspfsTer14)
c.12577_12578del (p.Lys4193AspfsTer14)
c.12571_12572del (p.Lys4191AspfsTer14)
c.12547_12548del (p.Lys4183AspfsTer14)
c.12370_12371del (p.Lys4124AspfsTer14)
c.12514_12515del (p.Lys4172AspfsTer14)
c.12586_12587del (p.Lys4196AspfsTer14)
 dbSNP
1g.237784266A>CCA345413612RYR2c.*3646A>C (n.*3646A>C)
c.12542A>C (p.Lys4181Thr)
c.12575A>C (p.Lys4192Thr)
c.4731A>C
c.12554A>C (p.Lys4185Thr)
c.2607A>C
c.12506A>C (p.Lys4169Thr)
n.3749A>C
c.12608A>C (p.Lys4203Thr)
c.12605A>C (p.Lys4202Thr)
c.12584A>C (p.Lys4195Thr)
c.12578A>C (p.Lys4193Thr)
c.12572A>C (p.Lys4191Thr)
c.12548A>C (p.Lys4183Thr)
c.12371A>C (p.Lys4124Thr)
c.12515A>C (p.Lys4172Thr)
c.12587A>C (p.Lys4196Thr)
1g.237784266A>GCA345413611RYR2c.*3646A>G (n.*3646A>G)
c.12542A>G (p.Lys4181Arg)
c.12575A>G (p.Lys4192Arg)
c.4731A>G
c.12554A>G (p.Lys4185Arg)
c.2607A>G
c.12506A>G (p.Lys4169Arg)
n.3749A>G
c.12608A>G (p.Lys4203Arg)
c.12605A>G (p.Lys4202Arg)
c.12584A>G (p.Lys4195Arg)
c.12578A>G (p.Lys4193Arg)
c.12572A>G (p.Lys4191Arg)
c.12548A>G (p.Lys4183Arg)
c.12371A>G (p.Lys4124Arg)
c.12515A>G (p.Lys4172Arg)
c.12587A>G (p.Lys4196Arg)
1g.237784266A>TCA345413610RYR2c.*3646A>T (n.*3646A>T)
c.12542A>T (p.Lys4181Met)
c.12575A>T (p.Lys4192Met)
c.4731A>T
c.12554A>T (p.Lys4185Met)
c.2607A>T
c.12506A>T (p.Lys4169Met)
n.3749A>T
c.12608A>T (p.Lys4203Met)
c.12605A>T (p.Lys4202Met)
c.12584A>T (p.Lys4195Met)
c.12578A>T (p.Lys4193Met)
c.12572A>T (p.Lys4191Met)
c.12548A>T (p.Lys4183Met)
c.12371A>T (p.Lys4124Met)
c.12515A>T (p.Lys4172Met)
c.12587A>T (p.Lys4196Met)
1g.237784267_237784268dupCA1013748158RYR2c.*3647_*3648dup (n.*3647_*3648dup)
c.12543_12544dup (p.Met4182ArgfsTer6)
c.12576_12577dup (p.Met4193ArgfsTer6)
c.4732_4733dup
c.12555_12556dup (p.Met4186ArgfsTer6)
c.2608_2609dup
c.12507_12508dup (p.Met4170ArgfsTer6)
n.3750_3751dup
c.12609_12610dup (p.Met4204ArgfsTer6)
c.12606_12607dup (p.Met4203ArgfsTer6)
c.12585_12586dup (p.Met4196ArgfsTer6)
c.12579_12580dup (p.Met4194ArgfsTer6)
c.12573_12574dup (p.Met4192ArgfsTer6)
c.12549_12550dup (p.Met4184ArgfsTer6)
c.12372_12373dup (p.Met4125ArgfsTer6)
c.12516_12517dup (p.Met4173ArgfsTer6)
c.12588_12589dup (p.Met4197ArgfsTer6)
 dbSNP gnomAD v3 gnomAD v4
1g.237784267G>ACA085198RYR2c.*3647G>A (n.*3647G>A)
c.12543G>A (p.Lys4181=)
c.12576G>A (p.Lys4192=)
c.4732G>A
c.12555G>A (p.Lys4185=)
c.2608G>A
c.12507G>A (p.Lys4169=)
n.3750G>A
c.12609G>A (p.Lys4203=)
c.12606G>A (p.Lys4202=)
c.12585G>A (p.Lys4195=)
c.12579G>A (p.Lys4193=)
c.12573G>A (p.Lys4191=)
c.12549G>A (p.Lys4183=)
c.12372G>A (p.Lys4124=)
c.12516G>A (p.Lys4172=)
c.12588G>A (p.Lys4196=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.237784267G>CCA345413613RYR2c.*3647G>C (n.*3647G>C)
c.12543G>C (p.Lys4181Asn)
c.12576G>C (p.Lys4192Asn)
c.4732G>C
c.12555G>C (p.Lys4185Asn)
c.2608G>C
c.12507G>C (p.Lys4169Asn)
n.3750G>C
c.12609G>C (p.Lys4203Asn)
c.12606G>C (p.Lys4202Asn)
c.12585G>C (p.Lys4195Asn)
c.12579G>C (p.Lys4193Asn)
c.12573G>C (p.Lys4191Asn)
c.12549G>C (p.Lys4183Asn)
c.12372G>C (p.Lys4124Asn)
c.12516G>C (p.Lys4172Asn)
c.12588G>C (p.Lys4196Asn)
1g.237784267G=CA2487482458RYR2c.*3647G= (n.*3647G=)
c.12543G= (p.Lys4181=)
c.12576G= (p.Lys4192=)
c.4732G=
c.12555G= (p.Lys4185=)
c.2608G=
c.12507G= (p.Lys4169=)
n.3750G=
c.12609G= (p.Lys4203=)
c.12606G= (p.Lys4202=)
c.12585G= (p.Lys4195=)
c.12579G= (p.Lys4193=)
c.12573G= (p.Lys4191=)
c.12549G= (p.Lys4183=)
c.12372G= (p.Lys4124=)
c.12516G= (p.Lys4172=)
c.12588G= (p.Lys4196=)
1g.237784267G>TCA345413614RYR2c.*3647G>T (n.*3647G>T)
c.12543G>T (p.Lys4181Asn)
c.12576G>T (p.Lys4192Asn)
c.4732G>T
c.12555G>T (p.Lys4185Asn)
c.2608G>T
c.12507G>T (p.Lys4169Asn)
n.3750G>T
c.12609G>T (p.Lys4203Asn)
c.12606G>T (p.Lys4202Asn)
c.12585G>T (p.Lys4195Asn)
c.12579G>T (p.Lys4193Asn)
c.12573G>T (p.Lys4191Asn)
c.12549G>T (p.Lys4183Asn)
c.12372G>T (p.Lys4124Asn)
c.12516G>T (p.Lys4172Asn)
c.12588G>T (p.Lys4196Asn)
 COSMIC COSMIC
1g.237784268A=CA2487482459RYR2c.*3648A= (n.*3648A=)
c.12544A= (p.Met4182=)
c.12577A= (p.Met4193=)
c.4733A=
c.12556A= (p.Met4186=)
c.2609A=
c.12508A= (p.Met4170=)
n.3751A=
c.12610A= (p.Met4204=)
c.12607A= (p.Met4203=)
c.12586A= (p.Met4196=)
c.12580A= (p.Met4194=)
c.12574A= (p.Met4192=)
c.12550A= (p.Met4184=)
c.12373A= (p.Met4125=)
c.12517A= (p.Met4173=)
c.12589A= (p.Met4197=)
1g.237784268A>CCA345413615RYR2c.*3648A>C (n.*3648A>C)
c.12544A>C (p.Met4182Leu)
c.12577A>C (p.Met4193Leu)
c.4733A>C
c.12556A>C (p.Met4186Leu)
c.2609A>C
c.12508A>C (p.Met4170Leu)
n.3751A>C
c.12610A>C (p.Met4204Leu)
c.12607A>C (p.Met4203Leu)
c.12586A>C (p.Met4196Leu)
c.12580A>C (p.Met4194Leu)
c.12574A>C (p.Met4192Leu)
c.12550A>C (p.Met4184Leu)
c.12373A>C (p.Met4125Leu)
c.12517A>C (p.Met4173Leu)
c.12589A>C (p.Met4197Leu)
 dbSNP
1g.237784268A>GCA345413616RYR2c.*3648A>G (n.*3648A>G)
c.12544A>G (p.Met4182Val)
c.12577A>G (p.Met4193Val)
c.4733A>G
c.12556A>G (p.Met4186Val)
c.2609A>G
c.12508A>G (p.Met4170Val)
n.3751A>G
c.12610A>G (p.Met4204Val)
c.12607A>G (p.Met4203Val)
c.12586A>G (p.Met4196Val)
c.12580A>G (p.Met4194Val)
c.12574A>G (p.Met4192Val)
c.12550A>G (p.Met4184Val)
c.12373A>G (p.Met4125Val)
c.12517A>G (p.Met4173Val)
c.12589A>G (p.Met4197Val)
1g.237784268A>TCA345413617RYR2c.*3648A>T (n.*3648A>T)
c.12544A>T (p.Met4182Leu)
c.12577A>T (p.Met4193Leu)
c.4733A>T
c.12556A>T (p.Met4186Leu)
c.2609A>T
c.12508A>T (p.Met4170Leu)
n.3751A>T
c.12610A>T (p.Met4204Leu)
c.12607A>T (p.Met4203Leu)
c.12586A>T (p.Met4196Leu)
c.12580A>T (p.Met4194Leu)
c.12574A>T (p.Met4192Leu)
c.12550A>T (p.Met4184Leu)
c.12373A>T (p.Met4125Leu)
c.12517A>T (p.Met4173Leu)
c.12589A>T (p.Met4197Leu)
1g.237784269T>ACA345413618RYR2c.*3649T>A (n.*3649T>A)
c.12545T>A (p.Met4182Lys)
c.12578T>A (p.Met4193Lys)
c.4734T>A
c.12557T>A (p.Met4186Lys)
c.2610T>A
c.12509T>A (p.Met4170Lys)
n.3752T>A
c.12611T>A (p.Met4204Lys)
c.12608T>A (p.Met4203Lys)
c.12587T>A (p.Met4196Lys)
c.12581T>A (p.Met4194Lys)
c.12575T>A (p.Met4192Lys)
c.12551T>A (p.Met4184Lys)
c.12374T>A (p.Met4125Lys)
c.12518T>A (p.Met4173Lys)
c.12590T>A (p.Met4197Lys)
1g.237784269T>CCA345413619RYR2c.*3649T>C (n.*3649T>C)
c.12545T>C (p.Met4182Thr)
c.12578T>C (p.Met4193Thr)
c.4734T>C
c.12557T>C (p.Met4186Thr)
c.2610T>C
c.12509T>C (p.Met4170Thr)
n.3752T>C
c.12611T>C (p.Met4204Thr)
c.12608T>C (p.Met4203Thr)
c.12587T>C (p.Met4196Thr)
c.12581T>C (p.Met4194Thr)
c.12575T>C (p.Met4192Thr)
c.12551T>C (p.Met4184Thr)
c.12374T>C (p.Met4125Thr)
c.12518T>C (p.Met4173Thr)
c.12590T>C (p.Met4197Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237784269T>GCA345413620RYR2c.*3649T>G (n.*3649T>G)
c.12545T>G (p.Met4182Arg)
c.12578T>G (p.Met4193Arg)
c.4734T>G
c.12557T>G (p.Met4186Arg)
c.2610T>G
c.12509T>G (p.Met4170Arg)
n.3752T>G
c.12611T>G (p.Met4204Arg)
c.12608T>G (p.Met4203Arg)
c.12587T>G (p.Met4196Arg)
c.12581T>G (p.Met4194Arg)
c.12575T>G (p.Met4192Arg)
c.12551T>G (p.Met4184Arg)
c.12374T>G (p.Met4125Arg)
c.12518T>G (p.Met4173Arg)
c.12590T>G (p.Met4197Arg)
1g.237784269T=CA2487482460RYR2c.*3649T= (n.*3649T=)
c.12545T= (p.Met4182=)
c.12578T= (p.Met4193=)
c.4734T=
c.12557T= (p.Met4186=)
c.2610T=
c.12509T= (p.Met4170=)
n.3752T=
c.12611T= (p.Met4204=)
c.12608T= (p.Met4203=)
c.12587T= (p.Met4196=)
c.12581T= (p.Met4194=)
c.12575T= (p.Met4192=)
c.12551T= (p.Met4184=)
c.12374T= (p.Met4125=)
c.12518T= (p.Met4173=)
c.12590T= (p.Met4197=)
1g.237784270G>ACA066504RYR2c.*3650G>A (n.*3650G>A)
c.12546G>A (p.Met4182Ile)
c.12579G>A (p.Met4193Ile)
c.4735G>A
c.12558G>A (p.Met4186Ile)
c.2611G>A
c.12510G>A (p.Met4170Ile)
n.3753G>A
c.12612G>A (p.Met4204Ile)
c.12609G>A (p.Met4203Ile)
c.12588G>A (p.Met4196Ile)
c.12582G>A (p.Met4194Ile)
c.12576G>A (p.Met4192Ile)
c.12552G>A (p.Met4184Ile)
c.12375G>A (p.Met4125Ile)
c.12519G>A (p.Met4173Ile)
c.12591G>A (p.Met4197Ile)
1g.237784270G>CCA345413621RYR2c.*3650G>C (n.*3650G>C)
c.12546G>C (p.Met4182Ile)
c.12579G>C (p.Met4193Ile)
c.4735G>C
c.12558G>C (p.Met4186Ile)
c.2611G>C
c.12510G>C (p.Met4170Ile)
n.3753G>C
c.12612G>C (p.Met4204Ile)
c.12609G>C (p.Met4203Ile)
c.12588G>C (p.Met4196Ile)
c.12582G>C (p.Met4194Ile)
c.12576G>C (p.Met4192Ile)
c.12552G>C (p.Met4184Ile)
c.12375G>C (p.Met4125Ile)
c.12519G>C (p.Met4173Ile)
c.12591G>C (p.Met4197Ile)
1g.237784270G>TCA345413622RYR2c.*3650G>T (n.*3650G>T)
c.12546G>T (p.Met4182Ile)
c.12579G>T (p.Met4193Ile)
c.4735G>T
c.12558G>T (p.Met4186Ile)
c.2611G>T
c.12510G>T (p.Met4170Ile)
n.3753G>T
c.12612G>T (p.Met4204Ile)
c.12609G>T (p.Met4203Ile)
c.12588G>T (p.Met4196Ile)
c.12582G>T (p.Met4194Ile)
c.12576G>T (p.Met4192Ile)
c.12552G>T (p.Met4184Ile)
c.12375G>T (p.Met4125Ile)
c.12519G>T (p.Met4173Ile)
c.12591G>T (p.Met4197Ile)
1g.237784271G>ACA007605RYR2c.*3651G>A (n.*3651G>A)
c.12547G>A (p.Glu4183Lys)
c.12580G>A (p.Glu4194Lys)
c.4736G>A
c.12559G>A (p.Glu4187Lys)
c.2612G>A
c.12511G>A (p.Glu4171Lys)
n.3754G>A
c.12613G>A (p.Glu4205Lys)
c.12610G>A (p.Glu4204Lys)
c.12589G>A (p.Glu4197Lys)
c.12583G>A (p.Glu4195Lys)
c.12577G>A (p.Glu4193Lys)
c.12553G>A (p.Glu4185Lys)
c.12376G>A (p.Glu4126Lys)
c.12520G>A (p.Glu4174Lys)
c.12592G>A (p.Glu4198Lys)
 dbSNP
1g.237784271G>CCA345413624RYR2c.*3651G>C (n.*3651G>C)
c.12547G>C (p.Glu4183Gln)
c.12580G>C (p.Glu4194Gln)
c.4736G>C
c.12559G>C (p.Glu4187Gln)
c.2612G>C
c.12511G>C (p.Glu4171Gln)
n.3754G>C
c.12613G>C (p.Glu4205Gln)
c.12610G>C (p.Glu4204Gln)
c.12589G>C (p.Glu4197Gln)
c.12583G>C (p.Glu4195Gln)
c.12577G>C (p.Glu4193Gln)
c.12553G>C (p.Glu4185Gln)
c.12376G>C (p.Glu4126Gln)
c.12520G>C (p.Glu4174Gln)
c.12592G>C (p.Glu4198Gln)
 dbSNP
1g.237784271G=CA2487482461RYR2c.*3651G= (n.*3651G=)
c.12547G= (p.Glu4183=)
c.12580G= (p.Glu4194=)
c.4736G=
c.12559G= (p.Glu4187=)
c.2612G=
c.12511G= (p.Glu4171=)
n.3754G=
c.12613G= (p.Glu4205=)
c.12610G= (p.Glu4204=)
c.12589G= (p.Glu4197=)
c.12583G= (p.Glu4195=)
c.12577G= (p.Glu4193=)
c.12553G= (p.Glu4185=)
c.12376G= (p.Glu4126=)
c.12520G= (p.Glu4174=)
c.12592G= (p.Glu4198=)
1g.237784271G>TCA345413623RYR2c.*3651G>T (n.*3651G>T)
c.12547G>T (p.Glu4183Ter)
c.12580G>T (p.Glu4194Ter)
c.4736G>T
c.12559G>T (p.Glu4187Ter)
c.2612G>T
c.12511G>T (p.Glu4171Ter)
n.3754G>T
c.12613G>T (p.Glu4205Ter)
c.12610G>T (p.Glu4204Ter)
c.12589G>T (p.Glu4197Ter)
c.12583G>T (p.Glu4195Ter)
c.12577G>T (p.Glu4193Ter)
c.12553G>T (p.Glu4185Ter)
c.12376G>T (p.Glu4126Ter)
c.12520G>T (p.Glu4174Ter)
c.12592G>T (p.Glu4198Ter)
1g.237784272A>CCA345413625RYR2c.*3652A>C (n.*3652A>C)
c.12548A>C (p.Glu4183Ala)
c.12581A>C (p.Glu4194Ala)
c.4737A>C
c.12560A>C (p.Glu4187Ala)
c.2613A>C
c.12512A>C (p.Glu4171Ala)
n.3755A>C
c.12614A>C (p.Glu4205Ala)
c.12611A>C (p.Glu4204Ala)
c.12590A>C (p.Glu4197Ala)
c.12584A>C (p.Glu4195Ala)
c.12578A>C (p.Glu4193Ala)
c.12554A>C (p.Glu4185Ala)
c.12377A>C (p.Glu4126Ala)
c.12521A>C (p.Glu4174Ala)
c.12593A>C (p.Glu4198Ala)
1g.237784272A>GCA345413626RYR2c.*3652A>G (n.*3652A>G)
c.12548A>G (p.Glu4183Gly)
c.12581A>G (p.Glu4194Gly)
c.4737A>G
c.12560A>G (p.Glu4187Gly)
c.2613A>G
c.12512A>G (p.Glu4171Gly)
n.3755A>G
c.12614A>G (p.Glu4205Gly)
c.12611A>G (p.Glu4204Gly)
c.12590A>G (p.Glu4197Gly)
c.12584A>G (p.Glu4195Gly)
c.12578A>G (p.Glu4193Gly)
c.12554A>G (p.Glu4185Gly)
c.12377A>G (p.Glu4126Gly)
c.12521A>G (p.Glu4174Gly)
c.12593A>G (p.Glu4198Gly)
1g.237784272A>TCA345413627RYR2c.*3652A>T (n.*3652A>T)
c.12548A>T (p.Glu4183Val)
c.12581A>T (p.Glu4194Val)
c.4737A>T
c.12560A>T (p.Glu4187Val)
c.2613A>T
c.12512A>T (p.Glu4171Val)
n.3755A>T
c.12614A>T (p.Glu4205Val)
c.12611A>T (p.Glu4204Val)
c.12590A>T (p.Glu4197Val)
c.12584A>T (p.Glu4195Val)
c.12578A>T (p.Glu4193Val)
c.12554A>T (p.Glu4185Val)
c.12377A>T (p.Glu4126Val)
c.12521A>T (p.Glu4174Val)
c.12593A>T (p.Glu4198Val)
1g.237784273A>CCA345413628RYR2c.*3653A>C (n.*3653A>C)
c.12549A>C (p.Glu4183Asp)
c.12582A>C (p.Glu4194Asp)
c.4738A>C
c.12561A>C (p.Glu4187Asp)
c.2614A>C
c.12513A>C (p.Glu4171Asp)
n.3756A>C
c.12615A>C (p.Glu4205Asp)
c.12612A>C (p.Glu4204Asp)
c.12591A>C (p.Glu4197Asp)
c.12585A>C (p.Glu4195Asp)
c.12579A>C (p.Glu4193Asp)
c.12555A>C (p.Glu4185Asp)
c.12378A>C (p.Glu4126Asp)
c.12522A>C (p.Glu4174Asp)
c.12594A>C (p.Glu4198Asp)
1g.237784273A>GCA424032318RYR2c.*3653A>G (n.*3653A>G)
c.12549A>G (p.Glu4183=)
c.12582A>G (p.Glu4194=)
c.4738A>G
c.12561A>G (p.Glu4187=)
c.2614A>G
c.12513A>G (p.Glu4171=)
n.3756A>G
c.12615A>G (p.Glu4205=)
c.12612A>G (p.Glu4204=)
c.12591A>G (p.Glu4197=)
c.12585A>G (p.Glu4195=)
c.12579A>G (p.Glu4193=)
c.12555A>G (p.Glu4185=)
c.12378A>G (p.Glu4126=)
c.12522A>G (p.Glu4174=)
c.12594A>G (p.Glu4198=)
1g.237784273A>TCA345413629RYR2c.*3653A>T (n.*3653A>T)
c.12549A>T (p.Glu4183Asp)
c.12582A>T (p.Glu4194Asp)
c.4738A>T
c.12561A>T (p.Glu4187Asp)
c.2614A>T
c.12513A>T (p.Glu4171Asp)
n.3756A>T
c.12615A>T (p.Glu4205Asp)
c.12612A>T (p.Glu4204Asp)
c.12591A>T (p.Glu4197Asp)
c.12585A>T (p.Glu4195Asp)
c.12579A>T (p.Glu4193Asp)
c.12555A>T (p.Glu4185Asp)
c.12378A>T (p.Glu4126Asp)
c.12522A>T (p.Glu4174Asp)
c.12594A>T (p.Glu4198Asp)
1g.237784274C>ACA345413632RYR2c.*3654C>A (n.*3654C>A)
c.12550C>A (p.Leu4184Ile)
c.12583C>A (p.Leu4195Ile)
c.4739C>A
c.12562C>A (p.Leu4188Ile)
c.2615C>A
c.12514C>A (p.Leu4172Ile)
n.3757C>A
c.12616C>A (p.Leu4206Ile)
c.12613C>A (p.Leu4205Ile)
c.12592C>A (p.Leu4198Ile)
c.12586C>A (p.Leu4196Ile)
c.12580C>A (p.Leu4194Ile)
c.12556C>A (p.Leu4186Ile)
c.12379C>A (p.Leu4127Ile)
c.12523C>A (p.Leu4175Ile)
c.12595C>A (p.Leu4199Ile)
1g.237784274C>GCA345413631RYR2c.*3654C>G (n.*3654C>G)
c.12550C>G (p.Leu4184Val)
c.12583C>G (p.Leu4195Val)
c.4739C>G
c.12562C>G (p.Leu4188Val)
c.2615C>G
c.12514C>G (p.Leu4172Val)
n.3757C>G
c.12616C>G (p.Leu4206Val)
c.12613C>G (p.Leu4205Val)
c.12592C>G (p.Leu4198Val)
c.12586C>G (p.Leu4196Val)
c.12580C>G (p.Leu4194Val)
c.12556C>G (p.Leu4186Val)
c.12379C>G (p.Leu4127Val)
c.12523C>G (p.Leu4175Val)
c.12595C>G (p.Leu4199Val)
1g.237784274C>TCA345413630RYR2c.*3654C>T (n.*3654C>T)
c.12550C>T (p.Leu4184Phe)
c.12583C>T (p.Leu4195Phe)
c.4739C>T
c.12562C>T (p.Leu4188Phe)
c.2615C>T
c.12514C>T (p.Leu4172Phe)
n.3757C>T
c.12616C>T (p.Leu4206Phe)
c.12613C>T (p.Leu4205Phe)
c.12592C>T (p.Leu4198Phe)
c.12586C>T (p.Leu4196Phe)
c.12580C>T (p.Leu4194Phe)
c.12556C>T (p.Leu4186Phe)
c.12379C>T (p.Leu4127Phe)
c.12523C>T (p.Leu4175Phe)
c.12595C>T (p.Leu4199Phe)
 gnomAD v4
1g.237784275T>ACA345413633RYR2c.*3655T>A (n.*3655T>A)
c.12551T>A (p.Leu4184His)
c.12584T>A (p.Leu4195His)
c.4740T>A
c.12563T>A (p.Leu4188His)
c.2616T>A
c.12515T>A (p.Leu4172His)
n.3758T>A
c.12617T>A (p.Leu4206His)
c.12614T>A (p.Leu4205His)
c.12593T>A (p.Leu4198His)
c.12587T>A (p.Leu4196His)
c.12581T>A (p.Leu4194His)
c.12557T>A (p.Leu4186His)
c.12380T>A (p.Leu4127His)
c.12524T>A (p.Leu4175His)
c.12596T>A (p.Leu4199His)
1g.237784275T>CCA345413634RYR2c.*3655T>C (n.*3655T>C)
c.12551T>C (p.Leu4184Pro)
c.12584T>C (p.Leu4195Pro)
c.4740T>C
c.12563T>C (p.Leu4188Pro)
c.2616T>C
c.12515T>C (p.Leu4172Pro)
n.3758T>C
c.12617T>C (p.Leu4206Pro)
c.12614T>C (p.Leu4205Pro)
c.12593T>C (p.Leu4198Pro)
c.12587T>C (p.Leu4196Pro)
c.12581T>C (p.Leu4194Pro)
c.12557T>C (p.Leu4186Pro)
c.12380T>C (p.Leu4127Pro)
c.12524T>C (p.Leu4175Pro)
c.12596T>C (p.Leu4199Pro)
 dbSNP
1g.237784275T>GCA345413635RYR2c.*3655T>G (n.*3655T>G)
c.12551T>G (p.Leu4184Arg)
c.12584T>G (p.Leu4195Arg)
c.4740T>G
c.12563T>G (p.Leu4188Arg)
c.2616T>G
c.12515T>G (p.Leu4172Arg)
n.3758T>G
c.12617T>G (p.Leu4206Arg)
c.12614T>G (p.Leu4205Arg)
c.12593T>G (p.Leu4198Arg)
c.12587T>G (p.Leu4196Arg)
c.12581T>G (p.Leu4194Arg)
c.12557T>G (p.Leu4186Arg)
c.12380T>G (p.Leu4127Arg)
c.12524T>G (p.Leu4175Arg)
c.12596T>G (p.Leu4199Arg)
 gnomAD v4
1g.237784275T=CA2487482462RYR2c.*3655T= (n.*3655T=)
c.12551T= (p.Leu4184=)
c.12584T= (p.Leu4195=)
c.4740T=
c.12563T= (p.Leu4188=)
c.2616T=
c.12515T= (p.Leu4172=)
n.3758T=
c.12617T= (p.Leu4206=)
c.12614T= (p.Leu4205=)
c.12593T= (p.Leu4198=)
c.12587T= (p.Leu4196=)
c.12581T= (p.Leu4194=)
c.12557T= (p.Leu4186=)
c.12380T= (p.Leu4127=)
c.12524T= (p.Leu4175=)
c.12596T= (p.Leu4199=)
1g.237784276C>ACA424032322RYR2c.*3656C>A (n.*3656C>A)
c.12552C>A (p.Leu4184=)
c.12585C>A (p.Leu4195=)
c.4741C>A
c.12564C>A (p.Leu4188=)
c.2617C>A
c.12516C>A (p.Leu4172=)
n.3759C>A
c.12618C>A (p.Leu4206=)
c.12615C>A (p.Leu4205=)
c.12594C>A (p.Leu4198=)
c.12588C>A (p.Leu4196=)
c.12582C>A (p.Leu4194=)
c.12558C>A (p.Leu4186=)
c.12381C>A (p.Leu4127=)
c.12525C>A (p.Leu4175=)
c.12597C>A (p.Leu4199=)
 COSMIC COSMIC
1g.237784276C>GCA424032321RYR2c.*3656C>G (n.*3656C>G)
c.12552C>G (p.Leu4184=)
c.12585C>G (p.Leu4195=)
c.4741C>G
c.12564C>G (p.Leu4188=)
c.2617C>G
c.12516C>G (p.Leu4172=)
n.3759C>G
c.12618C>G (p.Leu4206=)
c.12615C>G (p.Leu4205=)
c.12594C>G (p.Leu4198=)
c.12588C>G (p.Leu4196=)
c.12582C>G (p.Leu4194=)
c.12558C>G (p.Leu4186=)
c.12381C>G (p.Leu4127=)
c.12525C>G (p.Leu4175=)
c.12597C>G (p.Leu4199=)
1g.237784276C>TCA424032320RYR2c.*3656C>T (n.*3656C>T)
c.12552C>T (p.Leu4184=)
c.12585C>T (p.Leu4195=)
c.4741C>T
c.12564C>T (p.Leu4188=)
c.2617C>T
c.12516C>T (p.Leu4172=)
n.3759C>T
c.12618C>T (p.Leu4206=)
c.12615C>T (p.Leu4205=)
c.12594C>T (p.Leu4198=)
c.12588C>T (p.Leu4196=)
c.12582C>T (p.Leu4194=)
c.12558C>T (p.Leu4186=)
c.12381C>T (p.Leu4127=)
c.12525C>T (p.Leu4175=)
c.12597C>T (p.Leu4199=)
1g.237784277T>ACA345413636RYR2c.*3657T>A (n.*3657T>A)
c.12553T>A (p.Phe4185Ile)
c.12586T>A (p.Phe4196Ile)
c.4742T>A
c.12565T>A (p.Phe4189Ile)
c.2618T>A
c.12517T>A (p.Phe4173Ile)
n.3760T>A
c.12619T>A (p.Phe4207Ile)
c.12616T>A (p.Phe4206Ile)
c.12595T>A (p.Phe4199Ile)
c.12589T>A (p.Phe4197Ile)
c.12583T>A (p.Phe4195Ile)
c.12559T>A (p.Phe4187Ile)
c.12382T>A (p.Phe4128Ile)
c.12526T>A (p.Phe4176Ile)
c.12598T>A (p.Phe4200Ile)
1g.237784277T>CCA345413637RYR2c.*3657T>C (n.*3657T>C)
c.12553T>C (p.Phe4185Leu)
c.12586T>C (p.Phe4196Leu)
c.4742T>C
c.12565T>C (p.Phe4189Leu)
c.2618T>C
c.12517T>C (p.Phe4173Leu)
n.3760T>C
c.12619T>C (p.Phe4207Leu)
c.12616T>C (p.Phe4206Leu)
c.12595T>C (p.Phe4199Leu)
c.12589T>C (p.Phe4197Leu)
c.12583T>C (p.Phe4195Leu)
c.12559T>C (p.Phe4187Leu)
c.12382T>C (p.Phe4128Leu)
c.12526T>C (p.Phe4176Leu)
c.12598T>C (p.Phe4200Leu)
 ClinVar
1g.237784277T>GCA345413638RYR2c.*3657T>G (n.*3657T>G)
c.12553T>G (p.Phe4185Val)
c.12586T>G (p.Phe4196Val)
c.4742T>G
c.12565T>G (p.Phe4189Val)
c.2618T>G
c.12517T>G (p.Phe4173Val)
n.3760T>G
c.12619T>G (p.Phe4207Val)
c.12616T>G (p.Phe4206Val)
c.12595T>G (p.Phe4199Val)
c.12589T>G (p.Phe4197Val)
c.12583T>G (p.Phe4195Val)
c.12559T>G (p.Phe4187Val)
c.12382T>G (p.Phe4128Val)
c.12526T>G (p.Phe4176Val)
c.12598T>G (p.Phe4200Val)
1g.237784278_237784279delCA2574453503RYR2c.*3658_*3659del (n.*3658_*3659del)
c.12554_12555del (p.Phe4185CysfsTer10)
c.12587_12588del (p.Phe4196CysfsTer10)
c.4743_4744del
c.12566_12567del (p.Phe4189CysfsTer10)
c.2619_2620del
c.12518_12519del (p.Phe4173CysfsTer10)
n.3761_3762del
c.12620_12621del (p.Phe4207CysfsTer10)
c.12617_12618del (p.Phe4206CysfsTer10)
c.12596_12597del (p.Phe4199CysfsTer10)
c.12590_12591del (p.Phe4197CysfsTer10)
c.12584_12585del (p.Phe4195CysfsTer10)
c.12560_12561del (p.Phe4187CysfsTer10)
c.12383_12384del (p.Phe4128CysfsTer10)
c.12527_12528del (p.Phe4176CysfsTer10)
c.12599_12600del (p.Phe4200CysfsTer10)
1g.237784278T>ACA345413639RYR2c.*3658T>A (n.*3658T>A)
c.12554T>A (p.Phe4185Tyr)
c.12587T>A (p.Phe4196Tyr)
c.4743T>A
c.12566T>A (p.Phe4189Tyr)
c.2619T>A
c.12518T>A (p.Phe4173Tyr)
n.3761T>A
c.12620T>A (p.Phe4207Tyr)
c.12617T>A (p.Phe4206Tyr)
c.12596T>A (p.Phe4199Tyr)
c.12590T>A (p.Phe4197Tyr)
c.12584T>A (p.Phe4195Tyr)
c.12560T>A (p.Phe4187Tyr)
c.12383T>A (p.Phe4128Tyr)
c.12527T>A (p.Phe4176Tyr)
c.12599T>A (p.Phe4200Tyr)
1g.237784278T>CCA345413641RYR2c.*3658T>C (n.*3658T>C)
c.12554T>C (p.Phe4185Ser)
c.12587T>C (p.Phe4196Ser)
c.4743T>C
c.12566T>C (p.Phe4189Ser)
c.2619T>C
c.12518T>C (p.Phe4173Ser)
n.3761T>C
c.12620T>C (p.Phe4207Ser)
c.12617T>C (p.Phe4206Ser)
c.12596T>C (p.Phe4199Ser)
c.12590T>C (p.Phe4197Ser)
c.12584T>C (p.Phe4195Ser)
c.12560T>C (p.Phe4187Ser)
c.12383T>C (p.Phe4128Ser)
c.12527T>C (p.Phe4176Ser)
c.12599T>C (p.Phe4200Ser)
1g.237784278T>GCA345413640RYR2c.*3658T>G (n.*3658T>G)
c.12554T>G (p.Phe4185Cys)
c.12587T>G (p.Phe4196Cys)
c.4743T>G
c.12566T>G (p.Phe4189Cys)
c.2619T>G
c.12518T>G (p.Phe4173Cys)
n.3761T>G
c.12620T>G (p.Phe4207Cys)
c.12617T>G (p.Phe4206Cys)
c.12596T>G (p.Phe4199Cys)
c.12590T>G (p.Phe4197Cys)
c.12584T>G (p.Phe4195Cys)
c.12560T>G (p.Phe4187Cys)
c.12383T>G (p.Phe4128Cys)
c.12527T>G (p.Phe4176Cys)
c.12599T>G (p.Phe4200Cys)
1g.237784279T>ACA345413642RYR2c.*3659T>A (n.*3659T>A)
c.12555T>A (p.Phe4185Leu)
c.12588T>A (p.Phe4196Leu)
c.4744T>A
c.12567T>A (p.Phe4189Leu)
c.2620T>A
c.12519T>A (p.Phe4173Leu)
n.3762T>A
c.12621T>A (p.Phe4207Leu)
c.12618T>A (p.Phe4206Leu)
c.12597T>A (p.Phe4199Leu)
c.12591T>A (p.Phe4197Leu)
c.12585T>A (p.Phe4195Leu)
c.12561T>A (p.Phe4187Leu)
c.12384T>A (p.Phe4128Leu)
c.12528T>A (p.Phe4176Leu)
c.12600T>A (p.Phe4200Leu)
1g.237784279T>CCA424032323RYR2c.*3659T>C (n.*3659T>C)
c.12555T>C (p.Phe4185=)
c.12588T>C (p.Phe4196=)
c.4744T>C
c.12567T>C (p.Phe4189=)
c.2620T>C
c.12519T>C (p.Phe4173=)
n.3762T>C
c.12621T>C (p.Phe4207=)
c.12618T>C (p.Phe4206=)
c.12597T>C (p.Phe4199=)
c.12591T>C (p.Phe4197=)
c.12585T>C (p.Phe4195=)
c.12561T>C (p.Phe4187=)
c.12384T>C (p.Phe4128=)
c.12528T>C (p.Phe4176=)
c.12600T>C (p.Phe4200=)
 dbSNP
1g.237784279T>GCA345413643RYR2c.*3659T>G (n.*3659T>G)
c.12555T>G (p.Phe4185Leu)
c.12588T>G (p.Phe4196Leu)
c.4744T>G
c.12567T>G (p.Phe4189Leu)
c.2620T>G
c.12519T>G (p.Phe4173Leu)
n.3762T>G
c.12621T>G (p.Phe4207Leu)
c.12618T>G (p.Phe4206Leu)
c.12597T>G (p.Phe4199Leu)
c.12591T>G (p.Phe4197Leu)
c.12585T>G (p.Phe4195Leu)
c.12561T>G (p.Phe4187Leu)
c.12384T>G (p.Phe4128Leu)
c.12528T>G (p.Phe4176Leu)
c.12600T>G (p.Phe4200Leu)
1g.237784280G>ACA345413644RYR2c.*3660G>A (n.*3660G>A)
c.12556G>A (p.Val4186Met)
c.12589G>A (p.Val4197Met)
c.4745G>A
c.12568G>A (p.Val4190Met)
c.2621G>A
c.12520G>A (p.Val4174Met)
n.3763G>A
c.12622G>A (p.Val4208Met)
c.12619G>A (p.Val4207Met)
c.12598G>A (p.Val4200Met)
c.12592G>A (p.Val4198Met)
c.12586G>A (p.Val4196Met)
c.12562G>A (p.Val4188Met)
c.12385G>A (p.Val4129Met)
c.12529G>A (p.Val4177Met)
c.12601G>A (p.Val4201Met)
 ClinVar dbSNP
1g.237784280G>CCA345413645RYR2c.*3660G>C (n.*3660G>C)
c.12556G>C (p.Val4186Leu)
c.12589G>C (p.Val4197Leu)
c.4745G>C
c.12568G>C (p.Val4190Leu)
c.2621G>C
c.12520G>C (p.Val4174Leu)
n.3763G>C
c.12622G>C (p.Val4208Leu)
c.12619G>C (p.Val4207Leu)
c.12598G>C (p.Val4200Leu)
c.12592G>C (p.Val4198Leu)
c.12586G>C (p.Val4196Leu)
c.12562G>C (p.Val4188Leu)
c.12385G>C (p.Val4129Leu)
c.12529G>C (p.Val4177Leu)
c.12601G>C (p.Val4201Leu)
 ClinVar dbSNP
1g.237784280G=CA2487482463RYR2c.*3660G= (n.*3660G=)
c.12556G= (p.Val4186=)
c.12589G= (p.Val4197=)
c.4745G=
c.12568G= (p.Val4190=)
c.2621G=
c.12520G= (p.Val4174=)
n.3763G=
c.12622G= (p.Val4208=)
c.12619G= (p.Val4207=)
c.12598G= (p.Val4200=)
c.12592G= (p.Val4198=)
c.12586G= (p.Val4196=)
c.12562G= (p.Val4188=)
c.12385G= (p.Val4129=)
c.12529G= (p.Val4177=)
c.12601G= (p.Val4201=)
1g.237784280G>TCA345413646RYR2c.*3660G>T (n.*3660G>T)
c.12556G>T (p.Val4186Leu)
c.12589G>T (p.Val4197Leu)
c.4745G>T
c.12568G>T (p.Val4190Leu)
c.2621G>T
c.12520G>T (p.Val4174Leu)
n.3763G>T
c.12622G>T (p.Val4208Leu)
c.12619G>T (p.Val4207Leu)
c.12598G>T (p.Val4200Leu)
c.12592G>T (p.Val4198Leu)
c.12586G>T (p.Val4196Leu)
c.12562G>T (p.Val4188Leu)
c.12385G>T (p.Val4129Leu)
c.12529G>T (p.Val4177Leu)
c.12601G>T (p.Val4201Leu)
 dbSNP gnomAD v2
1g.237784281T>ACA345413647RYR2c.*3661T>A (n.*3661T>A)
c.12557T>A (p.Val4186Glu)
c.12590T>A (p.Val4197Glu)
c.4746T>A
c.12569T>A (p.Val4190Glu)
c.2622T>A
c.12521T>A (p.Val4174Glu)
n.3764T>A
c.12623T>A (p.Val4208Glu)
c.12620T>A (p.Val4207Glu)
c.12599T>A (p.Val4200Glu)
c.12593T>A (p.Val4198Glu)
c.12587T>A (p.Val4196Glu)
c.12563T>A (p.Val4188Glu)
c.12386T>A (p.Val4129Glu)
c.12530T>A (p.Val4177Glu)
c.12602T>A (p.Val4201Glu)
 ClinVar dbSNP
1g.237784281T>CCA345413648RYR2c.*3661T>C (n.*3661T>C)
c.12557T>C (p.Val4186Ala)
c.12590T>C (p.Val4197Ala)
c.4746T>C
c.12569T>C (p.Val4190Ala)
c.2622T>C
c.12521T>C (p.Val4174Ala)
n.3764T>C
c.12623T>C (p.Val4208Ala)
c.12620T>C (p.Val4207Ala)
c.12599T>C (p.Val4200Ala)
c.12593T>C (p.Val4198Ala)
c.12587T>C (p.Val4196Ala)
c.12563T>C (p.Val4188Ala)
c.12386T>C (p.Val4129Ala)
c.12530T>C (p.Val4177Ala)
c.12602T>C (p.Val4201Ala)
1g.237784281T>GCA16617110RYR2c.*3661T>G (n.*3661T>G)
c.12557T>G (p.Val4186Gly)
c.12590T>G (p.Val4197Gly)
c.4746T>G
c.12569T>G (p.Val4190Gly)
c.2622T>G
c.12521T>G (p.Val4174Gly)
n.3764T>G
c.12623T>G (p.Val4208Gly)
c.12620T>G (p.Val4207Gly)
c.12599T>G (p.Val4200Gly)
c.12593T>G (p.Val4198Gly)
c.12587T>G (p.Val4196Gly)
c.12563T>G (p.Val4188Gly)
c.12386T>G (p.Val4129Gly)
c.12530T>G (p.Val4177Gly)
c.12602T>G (p.Val4201Gly)
 ClinVar dbSNP
1g.237784281T=CA2487482464RYR2c.*3661T= (n.*3661T=)
c.12557T= (p.Val4186=)
c.12590T= (p.Val4197=)
c.4746T=
c.12569T= (p.Val4190=)
c.2622T=
c.12521T= (p.Val4174=)
n.3764T=
c.12623T= (p.Val4208=)
c.12620T= (p.Val4207=)
c.12599T= (p.Val4200=)
c.12593T= (p.Val4198=)
c.12587T= (p.Val4196=)
c.12563T= (p.Val4188=)
c.12386T= (p.Val4129=)
c.12530T= (p.Val4177=)
c.12602T= (p.Val4201=)
1g.237784282G>ACA424032326RYR2c.*3662G>A (n.*3662G>A)
c.12558G>A (p.Val4186=)
c.12591G>A (p.Val4197=)
c.4747G>A
c.12570G>A (p.Val4190=)
c.2623G>A
c.12522G>A (p.Val4174=)
n.3765G>A
c.12624G>A (p.Val4208=)
c.12621G>A (p.Val4207=)
c.12600G>A (p.Val4200=)
c.12594G>A (p.Val4198=)
c.12588G>A (p.Val4196=)
c.12564G>A (p.Val4188=)
c.12387G>A (p.Val4129=)
c.12531G>A (p.Val4177=)
c.12603G>A (p.Val4201=)
 COSMIC COSMIC
1g.237784282G>CCA424032327RYR2c.*3662G>C (n.*3662G>C)
c.12558G>C (p.Val4186=)
c.12591G>C (p.Val4197=)
c.4747G>C
c.12570G>C (p.Val4190=)
c.2623G>C
c.12522G>C (p.Val4174=)
n.3765G>C
c.12624G>C (p.Val4208=)
c.12621G>C (p.Val4207=)
c.12600G>C (p.Val4200=)
c.12594G>C (p.Val4198=)
c.12588G>C (p.Val4196=)
c.12564G>C (p.Val4188=)
c.12387G>C (p.Val4129=)
c.12531G>C (p.Val4177=)
c.12603G>C (p.Val4201=)
1g.237784282G>TCA424032328RYR2c.*3662G>T (n.*3662G>T)
c.12558G>T (p.Val4186=)
c.12591G>T (p.Val4197=)
c.4747G>T
c.12570G>T (p.Val4190=)
c.2623G>T
c.12522G>T (p.Val4174=)
n.3765G>T
c.12624G>T (p.Val4208=)
c.12621G>T (p.Val4207=)
c.12600G>T (p.Val4200=)
c.12594G>T (p.Val4198=)
c.12588G>T (p.Val4196=)
c.12564G>T (p.Val4188=)
c.12387G>T (p.Val4129=)
c.12531G>T (p.Val4177=)
c.12603G>T (p.Val4201=)
1g.237784283A>CCA345413649RYR2c.*3663A>C (n.*3663A>C)
c.12559A>C (p.Asn4187His)
c.12592A>C (p.Asn4198His)
c.4748A>C
c.12571A>C (p.Asn4191His)
c.2624A>C
c.12523A>C (p.Asn4175His)
n.3766A>C
c.12625A>C (p.Asn4209His)
c.12622A>C (p.Asn4208His)
c.12601A>C (p.Asn4201His)
c.12595A>C (p.Asn4199His)
c.12589A>C (p.Asn4197His)
c.12565A>C (p.Asn4189His)
c.12388A>C (p.Asn4130His)
c.12532A>C (p.Asn4178His)
c.12604A>C (p.Asn4202His)
1g.237784283A>GCA345413650RYR2c.*3663A>G (n.*3663A>G)
c.12559A>G (p.Asn4187Asp)
c.12592A>G (p.Asn4198Asp)
c.4748A>G
c.12571A>G (p.Asn4191Asp)
c.2624A>G
c.12523A>G (p.Asn4175Asp)
n.3766A>G
c.12625A>G (p.Asn4209Asp)
c.12622A>G (p.Asn4208Asp)
c.12601A>G (p.Asn4201Asp)
c.12595A>G (p.Asn4199Asp)
c.12589A>G (p.Asn4197Asp)
c.12565A>G (p.Asn4189Asp)
c.12388A>G (p.Asn4130Asp)
c.12532A>G (p.Asn4178Asp)
c.12604A>G (p.Asn4202Asp)
 ClinVar gnomAD v4
1g.237784283A>TCA345413651RYR2c.*3663A>T (n.*3663A>T)
c.12559A>T (p.Asn4187Tyr)
c.12592A>T (p.Asn4198Tyr)
c.4748A>T
c.12571A>T (p.Asn4191Tyr)
c.2624A>T
c.12523A>T (p.Asn4175Tyr)
n.3766A>T
c.12625A>T (p.Asn4209Tyr)
c.12622A>T (p.Asn4208Tyr)
c.12601A>T (p.Asn4201Tyr)
c.12595A>T (p.Asn4199Tyr)
c.12589A>T (p.Asn4197Tyr)
c.12565A>T (p.Asn4189Tyr)
c.12388A>T (p.Asn4130Tyr)
c.12532A>T (p.Asn4178Tyr)
c.12604A>T (p.Asn4202Tyr)
1g.237784284dupCA2697547748RYR2c.*3664dup (n.*3664dup)
c.12560dup (p.Asn4187LysfsTer9)
c.12593dup (p.Asn4198LysfsTer9)
c.4749dup
c.12572dup (p.Asn4191LysfsTer9)
c.2625dup
c.12524dup (p.Asn4175LysfsTer9)
n.3767dup
c.12626dup (p.Asn4209LysfsTer9)
c.12623dup (p.Asn4208LysfsTer9)
c.12602dup (p.Asn4201LysfsTer9)
c.12596dup (p.Asn4199LysfsTer9)
c.12590dup (p.Asn4197LysfsTer9)
c.12566dup (p.Asn4189LysfsTer9)
c.12389dup (p.Asn4130LysfsTer9)
c.12533dup (p.Asn4178LysfsTer9)
c.12605dup (p.Asn4202LysfsTer9)
 ClinVar
1g.237784284A>CCA345413653RYR2c.*3664A>C (n.*3664A>C)
c.12560A>C (p.Asn4187Thr)
c.12593A>C (p.Asn4198Thr)
c.4749A>C
c.12572A>C (p.Asn4191Thr)
c.2625A>C
c.12524A>C (p.Asn4175Thr)
n.3767A>C
c.12626A>C (p.Asn4209Thr)
c.12623A>C (p.Asn4208Thr)
c.12602A>C (p.Asn4201Thr)
c.12596A>C (p.Asn4199Thr)
c.12590A>C (p.Asn4197Thr)
c.12566A>C (p.Asn4189Thr)
c.12389A>C (p.Asn4130Thr)
c.12533A>C (p.Asn4178Thr)
c.12605A>C (p.Asn4202Thr)
1g.237784284A>GCA345413654RYR2c.*3664A>G (n.*3664A>G)
c.12560A>G (p.Asn4187Ser)
c.12593A>G (p.Asn4198Ser)
c.4749A>G
c.12572A>G (p.Asn4191Ser)
c.2625A>G
c.12524A>G (p.Asn4175Ser)
n.3767A>G
c.12626A>G (p.Asn4209Ser)
c.12623A>G (p.Asn4208Ser)
c.12602A>G (p.Asn4201Ser)
c.12596A>G (p.Asn4199Ser)
c.12590A>G (p.Asn4197Ser)
c.12566A>G (p.Asn4189Ser)
c.12389A>G (p.Asn4130Ser)
c.12533A>G (p.Asn4178Ser)
c.12605A>G (p.Asn4202Ser)
1g.237784284A>TCA345413652RYR2c.*3664A>T (n.*3664A>T)
c.12560A>T (p.Asn4187Ile)
c.12593A>T (p.Asn4198Ile)
c.4749A>T
c.12572A>T (p.Asn4191Ile)
c.2625A>T
c.12524A>T (p.Asn4175Ile)
n.3767A>T
c.12626A>T (p.Asn4209Ile)
c.12623A>T (p.Asn4208Ile)
c.12602A>T (p.Asn4201Ile)
c.12596A>T (p.Asn4199Ile)
c.12590A>T (p.Asn4197Ile)
c.12566A>T (p.Asn4189Ile)
c.12389A>T (p.Asn4130Ile)
c.12533A>T (p.Asn4178Ile)
c.12605A>T (p.Asn4202Ile)
1g.237784285C>ACA345413656RYR2c.*3665C>A (n.*3665C>A)
c.12561C>A (p.Asn4187Lys)
c.12594C>A (p.Asn4198Lys)
c.4750C>A
c.12573C>A (p.Asn4191Lys)
c.2626C>A
c.12525C>A (p.Asn4175Lys)
n.3768C>A
c.12627C>A (p.Asn4209Lys)
c.12624C>A (p.Asn4208Lys)
c.12603C>A (p.Asn4201Lys)
c.12597C>A (p.Asn4199Lys)
c.12591C>A (p.Asn4197Lys)
c.12567C>A (p.Asn4189Lys)
c.12390C>A (p.Asn4130Lys)
c.12534C>A (p.Asn4178Lys)
c.12606C>A (p.Asn4202Lys)
 gnomAD v4
1g.237784285C>GCA345413655RYR2c.*3665C>G (n.*3665C>G)
c.12561C>G (p.Asn4187Lys)
c.12594C>G (p.Asn4198Lys)
c.4750C>G
c.12573C>G (p.Asn4191Lys)
c.2626C>G
c.12525C>G (p.Asn4175Lys)
n.3768C>G
c.12627C>G (p.Asn4209Lys)
c.12624C>G (p.Asn4208Lys)
c.12603C>G (p.Asn4201Lys)
c.12597C>G (p.Asn4199Lys)
c.12591C>G (p.Asn4197Lys)
c.12567C>G (p.Asn4189Lys)
c.12390C>G (p.Asn4130Lys)
c.12534C>G (p.Asn4178Lys)
c.12606C>G (p.Asn4202Lys)
1g.237784285C>TCA424032332RYR2c.*3665C>T (n.*3665C>T)
c.12561C>T (p.Asn4187=)
c.12594C>T (p.Asn4198=)
c.4750C>T
c.12573C>T (p.Asn4191=)
c.2626C>T
c.12525C>T (p.Asn4175=)
n.3768C>T
c.12627C>T (p.Asn4209=)
c.12624C>T (p.Asn4208=)
c.12603C>T (p.Asn4201=)
c.12597C>T (p.Asn4199=)
c.12591C>T (p.Asn4197=)
c.12567C>T (p.Asn4189=)
c.12390C>T (p.Asn4130=)
c.12534C>T (p.Asn4178=)
c.12606C>T (p.Asn4202=)
1g.237784286T>ACA345413658RYR2c.*3666T>A (n.*3666T>A)
c.12562T>A (p.Phe4188Ile)
c.12595T>A (p.Phe4199Ile)
c.4751T>A
c.12574T>A (p.Phe4192Ile)
c.2627T>A
c.12526T>A (p.Phe4176Ile)
n.3769T>A
c.12628T>A (p.Phe4210Ile)
c.12625T>A (p.Phe4209Ile)
c.12604T>A (p.Phe4202Ile)
c.12598T>A (p.Phe4200Ile)
c.12592T>A (p.Phe4198Ile)
c.12568T>A (p.Phe4190Ile)
c.12391T>A (p.Phe4131Ile)
c.12535T>A (p.Phe4179Ile)
c.12607T>A (p.Phe4203Ile)
1g.237784286T>CCA345413657RYR2c.*3666T>C (n.*3666T>C)
c.12562T>C (p.Phe4188Leu)
c.12595T>C (p.Phe4199Leu)
c.4751T>C
c.12574T>C (p.Phe4192Leu)
c.2627T>C
c.12526T>C (p.Phe4176Leu)
n.3769T>C
c.12628T>C (p.Phe4210Leu)
c.12625T>C (p.Phe4209Leu)
c.12604T>C (p.Phe4202Leu)
c.12598T>C (p.Phe4200Leu)
c.12592T>C (p.Phe4198Leu)
c.12568T>C (p.Phe4190Leu)
c.12391T>C (p.Phe4131Leu)
c.12535T>C (p.Phe4179Leu)
c.12607T>C (p.Phe4203Leu)
1g.237784286T>GCA345413659RYR2c.*3666T>G (n.*3666T>G)
c.12562T>G (p.Phe4188Val)
c.12595T>G (p.Phe4199Val)
c.4751T>G
c.12574T>G (p.Phe4192Val)
c.2627T>G
c.12526T>G (p.Phe4176Val)
n.3769T>G
c.12628T>G (p.Phe4210Val)
c.12625T>G (p.Phe4209Val)
c.12604T>G (p.Phe4202Val)
c.12598T>G (p.Phe4200Val)
c.12592T>G (p.Phe4198Val)
c.12568T>G (p.Phe4190Val)
c.12391T>G (p.Phe4131Val)
c.12535T>G (p.Phe4179Val)
c.12607T>G (p.Phe4203Val)
 ClinVar dbSNP gnomAD v4
1g.237784286T=CA2487482465RYR2c.*3666T= (n.*3666T=)
c.12562T= (p.Phe4188=)
c.12595T= (p.Phe4199=)
c.4751T=
c.12574T= (p.Phe4192=)
c.2627T=
c.12526T= (p.Phe4176=)
n.3769T=
c.12628T= (p.Phe4210=)
c.12625T= (p.Phe4209=)
c.12604T= (p.Phe4202=)
c.12598T= (p.Phe4200=)
c.12592T= (p.Phe4198=)
c.12568T= (p.Phe4190=)
c.12391T= (p.Phe4131=)
c.12535T= (p.Phe4179=)
c.12607T= (p.Phe4203=)
1g.237784287T>ACA345413660RYR2c.*3667T>A (n.*3667T>A)
c.12563T>A (p.Phe4188Tyr)
c.12596T>A (p.Phe4199Tyr)
c.4752T>A
c.12575T>A (p.Phe4192Tyr)
c.2628T>A
c.12527T>A (p.Phe4176Tyr)
n.3770T>A
c.12629T>A (p.Phe4210Tyr)
c.12626T>A (p.Phe4209Tyr)
c.12605T>A (p.Phe4202Tyr)
c.12599T>A (p.Phe4200Tyr)
c.12593T>A (p.Phe4198Tyr)
c.12569T>A (p.Phe4190Tyr)
c.12392T>A (p.Phe4131Tyr)
c.12536T>A (p.Phe4179Tyr)
c.12608T>A (p.Phe4203Tyr)
1g.237784287T>CCA345413661RYR2c.*3667T>C (n.*3667T>C)
c.12563T>C (p.Phe4188Ser)
c.12596T>C (p.Phe4199Ser)
c.4752T>C
c.12575T>C (p.Phe4192Ser)
c.2628T>C
c.12527T>C (p.Phe4176Ser)
n.3770T>C
c.12629T>C (p.Phe4210Ser)
c.12626T>C (p.Phe4209Ser)
c.12605T>C (p.Phe4202Ser)
c.12599T>C (p.Phe4200Ser)
c.12593T>C (p.Phe4198Ser)
c.12569T>C (p.Phe4190Ser)
c.12392T>C (p.Phe4131Ser)
c.12536T>C (p.Phe4179Ser)
c.12608T>C (p.Phe4203Ser)
1g.237784287T>GCA345413662RYR2c.*3667T>G (n.*3667T>G)
c.12563T>G (p.Phe4188Cys)
c.12596T>G (p.Phe4199Cys)
c.4752T>G
c.12575T>G (p.Phe4192Cys)
c.2628T>G
c.12527T>G (p.Phe4176Cys)
n.3770T>G
c.12629T>G (p.Phe4210Cys)
c.12626T>G (p.Phe4209Cys)
c.12605T>G (p.Phe4202Cys)
c.12599T>G (p.Phe4200Cys)
c.12593T>G (p.Phe4198Cys)
c.12569T>G (p.Phe4190Cys)
c.12392T>G (p.Phe4131Cys)
c.12536T>G (p.Phe4179Cys)
c.12608T>G (p.Phe4203Cys)
 gnomAD v4
1g.237784288C>ACA345413663RYR2c.*3668C>A (n.*3668C>A)
c.12564C>A (p.Phe4188Leu)
c.12597C>A (p.Phe4199Leu)
c.4753C>A
c.12576C>A (p.Phe4192Leu)
c.2629C>A
c.12528C>A (p.Phe4176Leu)
n.3771C>A
c.12630C>A (p.Phe4210Leu)
c.12627C>A (p.Phe4209Leu)
c.12606C>A (p.Phe4202Leu)
c.12600C>A (p.Phe4200Leu)
c.12594C>A (p.Phe4198Leu)
c.12570C>A (p.Phe4190Leu)
c.12393C>A (p.Phe4131Leu)
c.12537C>A (p.Phe4179Leu)
c.12609C>A (p.Phe4203Leu)
1g.237784288C>GCA345413664RYR2c.*3668C>G (n.*3668C>G)
c.12564C>G (p.Phe4188Leu)
c.12597C>G (p.Phe4199Leu)
c.4753C>G
c.12576C>G (p.Phe4192Leu)
c.2629C>G
c.12528C>G (p.Phe4176Leu)
n.3771C>G
c.12630C>G (p.Phe4210Leu)
c.12627C>G (p.Phe4209Leu)
c.12606C>G (p.Phe4202Leu)
c.12600C>G (p.Phe4200Leu)
c.12594C>G (p.Phe4198Leu)
c.12570C>G (p.Phe4190Leu)
c.12393C>G (p.Phe4131Leu)
c.12537C>G (p.Phe4179Leu)
c.12609C>G (p.Phe4203Leu)
1g.237784288C>TCA424032334RYR2c.*3668C>T (n.*3668C>T)
c.12564C>T (p.Phe4188=)
c.12597C>T (p.Phe4199=)
c.4753C>T
c.12576C>T (p.Phe4192=)
c.2629C>T
c.12528C>T (p.Phe4176=)
n.3771C>T
c.12630C>T (p.Phe4210=)
c.12627C>T (p.Phe4209=)
c.12606C>T (p.Phe4202=)
c.12600C>T (p.Phe4200=)
c.12594C>T (p.Phe4198=)
c.12570C>T (p.Phe4190=)
c.12393C>T (p.Phe4131=)
c.12537C>T (p.Phe4179=)
c.12609C>T (p.Phe4203=)
1g.237784289T>ACA345413665RYR2c.*3669T>A (n.*3669T>A)
c.12565T>A (p.Cys4189Ser)
c.12598T>A (p.Cys4200Ser)
c.4754T>A
c.12577T>A (p.Cys4193Ser)
c.2630T>A
c.12529T>A (p.Cys4177Ser)
n.3772T>A
c.12631T>A (p.Cys4211Ser)
c.12628T>A (p.Cys4210Ser)
c.12607T>A (p.Cys4203Ser)
c.12601T>A (p.Cys4201Ser)
c.12595T>A (p.Cys4199Ser)
c.12571T>A (p.Cys4191Ser)
c.12394T>A (p.Cys4132Ser)
c.12538T>A (p.Cys4180Ser)
c.12610T>A (p.Cys4204Ser)
1g.237784289T>CCA345413666RYR2c.*3669T>C (n.*3669T>C)
c.12565T>C (p.Cys4189Arg)
c.12598T>C (p.Cys4200Arg)
c.4754T>C
c.12577T>C (p.Cys4193Arg)
c.2630T>C
c.12529T>C (p.Cys4177Arg)
n.3772T>C
c.12631T>C (p.Cys4211Arg)
c.12628T>C (p.Cys4210Arg)
c.12607T>C (p.Cys4203Arg)
c.12601T>C (p.Cys4201Arg)
c.12595T>C (p.Cys4199Arg)
c.12571T>C (p.Cys4191Arg)
c.12394T>C (p.Cys4132Arg)
c.12538T>C (p.Cys4180Arg)
c.12610T>C (p.Cys4204Arg)
 COSMIC
1g.237784289T>GCA345413667RYR2c.*3669T>G (n.*3669T>G)
c.12565T>G (p.Cys4189Gly)
c.12598T>G (p.Cys4200Gly)
c.4754T>G
c.12577T>G (p.Cys4193Gly)
c.2630T>G
c.12529T>G (p.Cys4177Gly)
n.3772T>G
c.12631T>G (p.Cys4211Gly)
c.12628T>G (p.Cys4210Gly)
c.12607T>G (p.Cys4203Gly)
c.12601T>G (p.Cys4201Gly)
c.12595T>G (p.Cys4199Gly)
c.12571T>G (p.Cys4191Gly)
c.12394T>G (p.Cys4132Gly)
c.12538T>G (p.Cys4180Gly)
c.12610T>G (p.Cys4204Gly)
1g.237784290G>ACA345413668RYR2c.*3670G>A (n.*3670G>A)
c.12566G>A (p.Cys4189Tyr)
c.12599G>A (p.Cys4200Tyr)
c.4755G>A
c.12578G>A (p.Cys4193Tyr)
c.2631G>A
c.12530G>A (p.Cys4177Tyr)
n.3773G>A
c.12632G>A (p.Cys4211Tyr)
c.12629G>A (p.Cys4210Tyr)
c.12608G>A (p.Cys4203Tyr)
c.12602G>A (p.Cys4201Tyr)
c.12596G>A (p.Cys4199Tyr)
c.12572G>A (p.Cys4191Tyr)
c.12395G>A (p.Cys4132Tyr)
c.12539G>A (p.Cys4180Tyr)
c.12611G>A (p.Cys4204Tyr)
 ClinVar dbSNP
1g.237784290G>CCA345413669RYR2c.*3670G>C (n.*3670G>C)
c.12566G>C (p.Cys4189Ser)
c.12599G>C (p.Cys4200Ser)
c.4755G>C
c.12578G>C (p.Cys4193Ser)
c.2631G>C
c.12530G>C (p.Cys4177Ser)
n.3773G>C
c.12632G>C (p.Cys4211Ser)
c.12629G>C (p.Cys4210Ser)
c.12608G>C (p.Cys4203Ser)
c.12602G>C (p.Cys4201Ser)
c.12596G>C (p.Cys4199Ser)
c.12572G>C (p.Cys4191Ser)
c.12395G>C (p.Cys4132Ser)
c.12539G>C (p.Cys4180Ser)
c.12611G>C (p.Cys4204Ser)
 gnomAD v4
1g.237784290G=CA2487482466RYR2c.*3670G= (n.*3670G=)
c.12566G= (p.Cys4189=)
c.12599G= (p.Cys4200=)
c.4755G=
c.12578G= (p.Cys4193=)
c.2631G=
c.12530G= (p.Cys4177=)
n.3773G=
c.12632G= (p.Cys4211=)
c.12629G= (p.Cys4210=)
c.12608G= (p.Cys4203=)
c.12602G= (p.Cys4201=)
c.12596G= (p.Cys4199=)
c.12572G= (p.Cys4191=)
c.12395G= (p.Cys4132=)
c.12539G= (p.Cys4180=)
c.12611G= (p.Cys4204=)
1g.237784290G>TCA345413670RYR2c.*3670G>T (n.*3670G>T)
c.12566G>T (p.Cys4189Phe)
c.12599G>T (p.Cys4200Phe)
c.4755G>T
c.12578G>T (p.Cys4193Phe)
c.2631G>T
c.12530G>T (p.Cys4177Phe)
n.3773G>T
c.12632G>T (p.Cys4211Phe)
c.12629G>T (p.Cys4210Phe)
c.12608G>T (p.Cys4203Phe)
c.12602G>T (p.Cys4201Phe)
c.12596G>T (p.Cys4199Phe)
c.12572G>T (p.Cys4191Phe)
c.12395G>T (p.Cys4132Phe)
c.12539G>T (p.Cys4180Phe)
c.12611G>T (p.Cys4204Phe)
1g.237784291C>ACA345413672RYR2c.*3671C>A (n.*3671C>A)
c.12567C>A (p.Cys4189Ter)
c.12600C>A (p.Cys4200Ter)
c.4756C>A
c.12579C>A (p.Cys4193Ter)
c.2632C>A
c.12531C>A (p.Cys4177Ter)
n.3774C>A
c.12633C>A (p.Cys4211Ter)
c.12630C>A (p.Cys4210Ter)
c.12609C>A (p.Cys4203Ter)
c.12603C>A (p.Cys4201Ter)
c.12597C>A (p.Cys4199Ter)
c.12573C>A (p.Cys4191Ter)
c.12396C>A (p.Cys4132Ter)
c.12540C>A (p.Cys4180Ter)
c.12612C>A (p.Cys4204Ter)
1g.237784291C=CA1143669639RYR2c.*3671C= (n.*3671C=)
c.12567C= (p.Cys4189=)
c.12600C= (p.Cys4200=)
c.4756C=
c.12579C= (p.Cys4193=)
c.2632C=
c.12531C= (p.Cys4177=)
n.3774C=
c.12633C= (p.Cys4211=)
c.12630C= (p.Cys4210=)
c.12609C= (p.Cys4203=)
c.12603C= (p.Cys4201=)
c.12597C= (p.Cys4199=)
c.12573C= (p.Cys4191=)
c.12396C= (p.Cys4132=)
c.12540C= (p.Cys4180=)
c.12612C= (p.Cys4204=)
1g.237784291C>GCA345413671RYR2c.*3671C>G (n.*3671C>G)
c.12567C>G (p.Cys4189Trp)
c.12600C>G (p.Cys4200Trp)
c.4756C>G
c.12579C>G (p.Cys4193Trp)
c.2632C>G
c.12531C>G (p.Cys4177Trp)
n.3774C>G
c.12633C>G (p.Cys4211Trp)
c.12630C>G (p.Cys4210Trp)
c.12609C>G (p.Cys4203Trp)
c.12603C>G (p.Cys4201Trp)
c.12597C>G (p.Cys4199Trp)
c.12573C>G (p.Cys4191Trp)
c.12396C>G (p.Cys4132Trp)
c.12540C>G (p.Cys4180Trp)
c.12612C>G (p.Cys4204Trp)
1g.237784291C>TCA085199RYR2c.*3671C>T (n.*3671C>T)
c.12567C>T (p.Cys4189=)
c.12600C>T (p.Cys4200=)
c.4756C>T
c.12579C>T (p.Cys4193=)
c.2632C>T
c.12531C>T (p.Cys4177=)
n.3774C>T
c.12633C>T (p.Cys4211=)
c.12630C>T (p.Cys4210=)
c.12609C>T (p.Cys4203=)
c.12603C>T (p.Cys4201=)
c.12597C>T (p.Cys4199=)
c.12573C>T (p.Cys4191=)
c.12396C>T (p.Cys4132=)
c.12540C>T (p.Cys4180=)
c.12612C>T (p.Cys4204=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784292G>ACA085200RYR2c.*3672G>A (n.*3672G>A)
c.12568G>A (p.Glu4190Lys)
c.12601G>A (p.Glu4201Lys)
c.4757G>A
c.12580G>A (p.Glu4194Lys)
c.2633G>A
c.12532G>A (p.Glu4178Lys)
n.3775G>A
c.12634G>A (p.Glu4212Lys)
c.12631G>A (p.Glu4211Lys)
c.12610G>A (p.Glu4204Lys)
c.12604G>A (p.Glu4202Lys)
c.12598G>A (p.Glu4200Lys)
c.12574G>A (p.Glu4192Lys)
c.12397G>A (p.Glu4133Lys)
c.12541G>A (p.Glu4181Lys)
c.12613G>A (p.Glu4205Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237784292G>CCA345413673RYR2c.*3672G>C (n.*3672G>C)
c.12568G>C (p.Glu4190Gln)
c.12601G>C (p.Glu4201Gln)
c.4757G>C
c.12580G>C (p.Glu4194Gln)
c.2633G>C
c.12532G>C (p.Glu4178Gln)
n.3775G>C
c.12634G>C (p.Glu4212Gln)
c.12631G>C (p.Glu4211Gln)
c.12610G>C (p.Glu4204Gln)
c.12604G>C (p.Glu4202Gln)
c.12598G>C (p.Glu4200Gln)
c.12574G>C (p.Glu4192Gln)
c.12397G>C (p.Glu4133Gln)
c.12541G>C (p.Glu4181Gln)
c.12613G>C (p.Glu4205Gln)
 dbSNP
1g.237784292G=CA2487482467RYR2c.*3672G= (n.*3672G=)
c.12568G= (p.Glu4190=)
c.12601G= (p.Glu4201=)
c.4757G=
c.12580G= (p.Glu4194=)
c.2633G=
c.12532G= (p.Glu4178=)
n.3775G=
c.12634G= (p.Glu4212=)
c.12631G= (p.Glu4211=)
c.12610G= (p.Glu4204=)
c.12604G= (p.Glu4202=)
c.12598G= (p.Glu4200=)
c.12574G= (p.Glu4192=)
c.12397G= (p.Glu4133=)
c.12541G= (p.Glu4181=)
c.12613G= (p.Glu4205=)
1g.237784292G>TCA345413674RYR2c.*3672G>T (n.*3672G>T)
c.12568G>T (p.Glu4190Ter)
c.12601G>T (p.Glu4201Ter)
c.4757G>T
c.12580G>T (p.Glu4194Ter)
c.2633G>T
c.12532G>T (p.Glu4178Ter)
n.3775G>T
c.12634G>T (p.Glu4212Ter)
c.12631G>T (p.Glu4211Ter)
c.12610G>T (p.Glu4204Ter)
c.12604G>T (p.Glu4202Ter)
c.12598G>T (p.Glu4200Ter)
c.12574G>T (p.Glu4192Ter)
c.12397G>T (p.Glu4133Ter)
c.12541G>T (p.Glu4181Ter)
c.12613G>T (p.Glu4205Ter)
 COSMIC COSMIC
1g.237784293A>CCA345413675RYR2c.*3673A>C (n.*3673A>C)
c.12569A>C (p.Glu4190Ala)
c.12602A>C (p.Glu4201Ala)
c.4758A>C
c.12581A>C (p.Glu4194Ala)
c.2634A>C
c.12533A>C (p.Glu4178Ala)
n.3776A>C
c.12635A>C (p.Glu4212Ala)
c.12632A>C (p.Glu4211Ala)
c.12611A>C (p.Glu4204Ala)
c.12605A>C (p.Glu4202Ala)
c.12599A>C (p.Glu4200Ala)
c.12575A>C (p.Glu4192Ala)
c.12398A>C (p.Glu4133Ala)
c.12542A>C (p.Glu4181Ala)
c.12614A>C (p.Glu4205Ala)
1g.237784293A>GCA345413676RYR2c.*3673A>G (n.*3673A>G)
c.12569A>G (p.Glu4190Gly)
c.12602A>G (p.Glu4201Gly)
c.4758A>G
c.12581A>G (p.Glu4194Gly)
c.2634A>G
c.12533A>G (p.Glu4178Gly)
n.3776A>G
c.12635A>G (p.Glu4212Gly)
c.12632A>G (p.Glu4211Gly)
c.12611A>G (p.Glu4204Gly)
c.12605A>G (p.Glu4202Gly)
c.12599A>G (p.Glu4200Gly)
c.12575A>G (p.Glu4192Gly)
c.12398A>G (p.Glu4133Gly)
c.12542A>G (p.Glu4181Gly)
c.12614A>G (p.Glu4205Gly)
1g.237784293A>TCA345413677RYR2c.*3673A>T (n.*3673A>T)
c.12569A>T (p.Glu4190Val)
c.12602A>T (p.Glu4201Val)
c.4758A>T
c.12581A>T (p.Glu4194Val)
c.2634A>T
c.12533A>T (p.Glu4178Val)
n.3776A>T
c.12635A>T (p.Glu4212Val)
c.12632A>T (p.Glu4211Val)
c.12611A>T (p.Glu4204Val)
c.12605A>T (p.Glu4202Val)
c.12599A>T (p.Glu4200Val)
c.12575A>T (p.Glu4192Val)
c.12398A>T (p.Glu4133Val)
c.12542A>T (p.Glu4181Val)
c.12614A>T (p.Glu4205Val)
1g.237784294G>ACA424032336RYR2c.*3674G>A (n.*3674G>A)
c.12570G>A (p.Glu4190=)
c.12603G>A (p.Glu4201=)
c.4759G>A
c.12582G>A (p.Glu4194=)
c.2635G>A
c.12534G>A (p.Glu4178=)
n.3777G>A
c.12636G>A (p.Glu4212=)
c.12633G>A (p.Glu4211=)
c.12612G>A (p.Glu4204=)
c.12606G>A (p.Glu4202=)
c.12600G>A (p.Glu4200=)
c.12576G>A (p.Glu4192=)
c.12399G>A (p.Glu4133=)
c.12543G>A (p.Glu4181=)
c.12615G>A (p.Glu4205=)
 ClinVar dbSNP gnomAD v4
1g.237784294G>CCA345413678RYR2c.*3674G>C (n.*3674G>C)
c.12570G>C (p.Glu4190Asp)
c.12603G>C (p.Glu4201Asp)
c.4759G>C
c.12582G>C (p.Glu4194Asp)
c.2635G>C
c.12534G>C (p.Glu4178Asp)
n.3777G>C
c.12636G>C (p.Glu4212Asp)
c.12633G>C (p.Glu4211Asp)
c.12612G>C (p.Glu4204Asp)
c.12606G>C (p.Glu4202Asp)
c.12600G>C (p.Glu4200Asp)
c.12576G>C (p.Glu4192Asp)
c.12399G>C (p.Glu4133Asp)
c.12543G>C (p.Glu4181Asp)
c.12615G>C (p.Glu4205Asp)
1g.237784294G>TCA345413679RYR2c.*3674G>T (n.*3674G>T)
c.12570G>T (p.Glu4190Asp)
c.12603G>T (p.Glu4201Asp)
c.4759G>T
c.12582G>T (p.Glu4194Asp)
c.2635G>T
c.12534G>T (p.Glu4178Asp)
n.3777G>T
c.12636G>T (p.Glu4212Asp)
c.12633G>T (p.Glu4211Asp)
c.12612G>T (p.Glu4204Asp)
c.12606G>T (p.Glu4202Asp)
c.12600G>T (p.Glu4200Asp)
c.12576G>T (p.Glu4192Asp)
c.12399G>T (p.Glu4133Asp)
c.12543G>T (p.Glu4181Asp)
c.12615G>T (p.Glu4205Asp)
 ClinVar dbSNP
1g.237784295G>ACA007613RYR2c.*3675G>A (n.*3675G>A)
c.12571G>A (p.Asp4191Asn)
c.12604G>A (p.Asp4202Asn)
c.4760G>A
c.12583G>A (p.Asp4195Asn)
c.2636G>A
c.12535G>A (p.Asp4179Asn)
n.3778G>A
c.12637G>A (p.Asp4213Asn)
c.12634G>A (p.Asp4212Asn)
c.12613G>A (p.Asp4205Asn)
c.12607G>A (p.Asp4203Asn)
c.12601G>A (p.Asp4201Asn)
c.12577G>A (p.Asp4193Asn)
c.12400G>A (p.Asp4134Asn)
c.12544G>A (p.Asp4182Asn)
c.12616G>A (p.Asp4206Asn)
 ClinVar dbSNP COSMIC COSMIC
1g.237784295G>CCA345413680RYR2c.*3675G>C (n.*3675G>C)
c.12571G>C (p.Asp4191His)
c.12604G>C (p.Asp4202His)
c.4760G>C
c.12583G>C (p.Asp4195His)
c.2636G>C
c.12535G>C (p.Asp4179His)
n.3778G>C
c.12637G>C (p.Asp4213His)
c.12634G>C (p.Asp4212His)
c.12613G>C (p.Asp4205His)
c.12607G>C (p.Asp4203His)
c.12601G>C (p.Asp4201His)
c.12577G>C (p.Asp4193His)
c.12400G>C (p.Asp4134His)
c.12544G>C (p.Asp4182His)
c.12616G>C (p.Asp4206His)
1g.237784295G=CA2487482468RYR2c.*3675G= (n.*3675G=)
c.12571G= (p.Asp4191=)
c.12604G= (p.Asp4202=)
c.4760G=
c.12583G= (p.Asp4195=)
c.2636G=
c.12535G= (p.Asp4179=)
n.3778G=
c.12637G= (p.Asp4213=)
c.12634G= (p.Asp4212=)
c.12613G= (p.Asp4205=)
c.12607G= (p.Asp4203=)
c.12601G= (p.Asp4201=)
c.12577G= (p.Asp4193=)
c.12400G= (p.Asp4134=)
c.12544G= (p.Asp4182=)
c.12616G= (p.Asp4206=)
1g.237784295G>TCA345413681RYR2c.*3675G>T (n.*3675G>T)
c.12571G>T (p.Asp4191Tyr)
c.12604G>T (p.Asp4202Tyr)
c.4760G>T
c.12583G>T (p.Asp4195Tyr)
c.2636G>T
c.12535G>T (p.Asp4179Tyr)
n.3778G>T
c.12637G>T (p.Asp4213Tyr)
c.12634G>T (p.Asp4212Tyr)
c.12613G>T (p.Asp4205Tyr)
c.12607G>T (p.Asp4203Tyr)
c.12601G>T (p.Asp4201Tyr)
c.12577G>T (p.Asp4193Tyr)
c.12400G>T (p.Asp4134Tyr)
c.12544G>T (p.Asp4182Tyr)
c.12616G>T (p.Asp4206Tyr)
1g.237784296A>CCA345413683RYR2c.*3676A>C (n.*3676A>C)
c.12572A>C (p.Asp4191Ala)
c.12605A>C (p.Asp4202Ala)
c.4761A>C
c.12584A>C (p.Asp4195Ala)
c.2637A>C
c.12536A>C (p.Asp4179Ala)
n.3779A>C
c.12638A>C (p.Asp4213Ala)
c.12635A>C (p.Asp4212Ala)
c.12614A>C (p.Asp4205Ala)
c.12608A>C (p.Asp4203Ala)
c.12602A>C (p.Asp4201Ala)
c.12578A>C (p.Asp4193Ala)
c.12401A>C (p.Asp4134Ala)
c.12545A>C (p.Asp4182Ala)
c.12617A>C (p.Asp4206Ala)
1g.237784296A>GCA345413684RYR2c.*3676A>G (n.*3676A>G)
c.12572A>G (p.Asp4191Gly)
c.12605A>G (p.Asp4202Gly)
c.4761A>G
c.12584A>G (p.Asp4195Gly)
c.2637A>G
c.12536A>G (p.Asp4179Gly)
n.3779A>G
c.12638A>G (p.Asp4213Gly)
c.12635A>G (p.Asp4212Gly)
c.12614A>G (p.Asp4205Gly)
c.12608A>G (p.Asp4203Gly)
c.12602A>G (p.Asp4201Gly)
c.12578A>G (p.Asp4193Gly)
c.12401A>G (p.Asp4134Gly)
c.12545A>G (p.Asp4182Gly)
c.12617A>G (p.Asp4206Gly)
 COSMIC
1g.237784296A>TCA345413682RYR2c.*3676A>T (n.*3676A>T)
c.12572A>T (p.Asp4191Val)
c.12605A>T (p.Asp4202Val)
c.4761A>T
c.12584A>T (p.Asp4195Val)
c.2637A>T
c.12536A>T (p.Asp4179Val)
n.3779A>T
c.12638A>T (p.Asp4213Val)
c.12635A>T (p.Asp4212Val)
c.12614A>T (p.Asp4205Val)
c.12608A>T (p.Asp4203Val)
c.12602A>T (p.Asp4201Val)
c.12578A>T (p.Asp4193Val)
c.12401A>T (p.Asp4134Val)
c.12545A>T (p.Asp4182Val)
c.12617A>T (p.Asp4206Val)
1g.237784297C>ACA345413685RYR2c.*3677C>A (n.*3677C>A)
c.12573C>A (p.Asp4191Glu)
c.12606C>A (p.Asp4202Glu)
c.4762C>A
c.12585C>A (p.Asp4195Glu)
c.2638C>A
c.12537C>A (p.Asp4179Glu)
n.3780C>A
c.12639C>A (p.Asp4213Glu)
c.12636C>A (p.Asp4212Glu)
c.12615C>A (p.Asp4205Glu)
c.12609C>A (p.Asp4203Glu)
c.12603C>A (p.Asp4201Glu)
c.12579C>A (p.Asp4193Glu)
c.12402C>A (p.Asp4134Glu)
c.12546C>A (p.Asp4182Glu)
c.12618C>A (p.Asp4206Glu)
1g.237784297C>GCA345413686RYR2c.*3677C>G (n.*3677C>G)
c.12573C>G (p.Asp4191Glu)
c.12606C>G (p.Asp4202Glu)
c.4762C>G
c.12585C>G (p.Asp4195Glu)
c.2638C>G
c.12537C>G (p.Asp4179Glu)
n.3780C>G
c.12639C>G (p.Asp4213Glu)
c.12636C>G (p.Asp4212Glu)
c.12615C>G (p.Asp4205Glu)
c.12609C>G (p.Asp4203Glu)
c.12603C>G (p.Asp4201Glu)
c.12579C>G (p.Asp4193Glu)
c.12402C>G (p.Asp4134Glu)
c.12546C>G (p.Asp4182Glu)
c.12618C>G (p.Asp4206Glu)
1g.237784297C>TCA424032342RYR2c.*3677C>T (n.*3677C>T)
c.12573C>T (p.Asp4191=)
c.12606C>T (p.Asp4202=)
c.4762C>T
c.12585C>T (p.Asp4195=)
c.2638C>T
c.12537C>T (p.Asp4179=)
n.3780C>T
c.12639C>T (p.Asp4213=)
c.12636C>T (p.Asp4212=)
c.12615C>T (p.Asp4205=)
c.12609C>T (p.Asp4203=)
c.12603C>T (p.Asp4201=)
c.12579C>T (p.Asp4193=)
c.12402C>T (p.Asp4134=)
c.12546C>T (p.Asp4182=)
c.12618C>T (p.Asp4206=)
1g.237784298A=CA2487482469RYR2c.*3678A= (n.*3678A=)
c.12574A= (p.Thr4192=)
c.12607A= (p.Thr4203=)
c.4763A=
c.12586A= (p.Thr4196=)
c.2639A=
c.12538A= (p.Thr4180=)
n.3781A=
c.12640A= (p.Thr4214=)
c.12637A= (p.Thr4213=)
c.12616A= (p.Thr4206=)
c.12610A= (p.Thr4204=)
c.12604A= (p.Thr4202=)
c.12580A= (p.Thr4194=)
c.12403A= (p.Thr4135=)
c.12547A= (p.Thr4183=)
c.12619A= (p.Thr4207=)
1g.237784298A>CCA345413687RYR2c.*3678A>C (n.*3678A>C)
c.12574A>C (p.Thr4192Pro)
c.12607A>C (p.Thr4203Pro)
c.4763A>C
c.12586A>C (p.Thr4196Pro)
c.2639A>C
c.12538A>C (p.Thr4180Pro)
n.3781A>C
c.12640A>C (p.Thr4214Pro)
c.12637A>C (p.Thr4213Pro)
c.12616A>C (p.Thr4206Pro)
c.12610A>C (p.Thr4204Pro)
c.12604A>C (p.Thr4202Pro)
c.12580A>C (p.Thr4194Pro)
c.12403A>C (p.Thr4135Pro)
c.12547A>C (p.Thr4183Pro)
c.12619A>C (p.Thr4207Pro)
1g.237784298A>GCA345413688RYR2c.*3678A>G (n.*3678A>G)
c.12574A>G (p.Thr4192Ala)
c.12607A>G (p.Thr4203Ala)
c.4763A>G
c.12586A>G (p.Thr4196Ala)
c.2639A>G
c.12538A>G (p.Thr4180Ala)
n.3781A>G
c.12640A>G (p.Thr4214Ala)
c.12637A>G (p.Thr4213Ala)
c.12616A>G (p.Thr4206Ala)
c.12610A>G (p.Thr4204Ala)
c.12604A>G (p.Thr4202Ala)
c.12580A>G (p.Thr4194Ala)
c.12403A>G (p.Thr4135Ala)
c.12547A>G (p.Thr4183Ala)
c.12619A>G (p.Thr4207Ala)
 dbSNP
1g.237784298A>TCA345413689RYR2c.*3678A>T (n.*3678A>T)
c.12574A>T (p.Thr4192Ser)
c.12607A>T (p.Thr4203Ser)
c.4763A>T
c.12586A>T (p.Thr4196Ser)
c.2639A>T
c.12538A>T (p.Thr4180Ser)
n.3781A>T
c.12640A>T (p.Thr4214Ser)
c.12637A>T (p.Thr4213Ser)
c.12616A>T (p.Thr4206Ser)
c.12610A>T (p.Thr4204Ser)
c.12604A>T (p.Thr4202Ser)
c.12580A>T (p.Thr4194Ser)
c.12403A>T (p.Thr4135Ser)
c.12547A>T (p.Thr4183Ser)
c.12619A>T (p.Thr4207Ser)
1g.237784299C>ACA345413690RYR2c.*3679C>A (n.*3679C>A)
c.12575C>A (p.Thr4192Asn)
c.12608C>A (p.Thr4203Asn)
c.4764C>A
c.12587C>A (p.Thr4196Asn)
c.2640C>A
c.12539C>A (p.Thr4180Asn)
n.3782C>A
c.12641C>A (p.Thr4214Asn)
c.12638C>A (p.Thr4213Asn)
c.12617C>A (p.Thr4206Asn)
c.12611C>A (p.Thr4204Asn)
c.12605C>A (p.Thr4202Asn)
c.12581C>A (p.Thr4194Asn)
c.12404C>A (p.Thr4135Asn)
c.12548C>A (p.Thr4183Asn)
c.12620C>A (p.Thr4207Asn)
1g.237784299C>GCA345413691RYR2c.*3679C>G (n.*3679C>G)
c.12575C>G (p.Thr4192Ser)
c.12608C>G (p.Thr4203Ser)
c.4764C>G
c.12587C>G (p.Thr4196Ser)
c.2640C>G
c.12539C>G (p.Thr4180Ser)
n.3782C>G
c.12641C>G (p.Thr4214Ser)
c.12638C>G (p.Thr4213Ser)
c.12617C>G (p.Thr4206Ser)
c.12611C>G (p.Thr4204Ser)
c.12605C>G (p.Thr4202Ser)
c.12581C>G (p.Thr4194Ser)
c.12404C>G (p.Thr4135Ser)
c.12548C>G (p.Thr4183Ser)
c.12620C>G (p.Thr4207Ser)
1g.237784299C>TCA345413692RYR2c.*3679C>T (n.*3679C>T)
c.12575C>T (p.Thr4192Ile)
c.12608C>T (p.Thr4203Ile)
c.4764C>T
c.12587C>T (p.Thr4196Ile)
c.2640C>T
c.12539C>T (p.Thr4180Ile)
n.3782C>T
c.12641C>T (p.Thr4214Ile)
c.12638C>T (p.Thr4213Ile)
c.12617C>T (p.Thr4206Ile)
c.12611C>T (p.Thr4204Ile)
c.12605C>T (p.Thr4202Ile)
c.12581C>T (p.Thr4194Ile)
c.12404C>T (p.Thr4135Ile)
c.12548C>T (p.Thr4183Ile)
c.12620C>T (p.Thr4207Ile)
 ClinVar dbSNP
1g.237784300C>ACA424032345RYR2c.*3680C>A (n.*3680C>A)
c.12576C>A (p.Thr4192=)
c.12609C>A (p.Thr4203=)
c.4765C>A
c.12588C>A (p.Thr4196=)
c.2641C>A
c.12540C>A (p.Thr4180=)
n.3783C>A
c.12642C>A (p.Thr4214=)
c.12639C>A (p.Thr4213=)
c.12618C>A (p.Thr4206=)
c.12612C>A (p.Thr4204=)
c.12606C>A (p.Thr4202=)
c.12582C>A (p.Thr4194=)
c.12405C>A (p.Thr4135=)
c.12549C>A (p.Thr4183=)
c.12621C>A (p.Thr4207=)
1g.237784300C=CA2487482470RYR2c.*3680C= (n.*3680C=)
c.12576C= (p.Thr4192=)
c.12609C= (p.Thr4203=)
c.4765C=
c.12588C= (p.Thr4196=)
c.2641C=
c.12540C= (p.Thr4180=)
n.3783C=
c.12642C= (p.Thr4214=)
c.12639C= (p.Thr4213=)
c.12618C= (p.Thr4206=)
c.12612C= (p.Thr4204=)
c.12606C= (p.Thr4202=)
c.12582C= (p.Thr4194=)
c.12405C= (p.Thr4135=)
c.12549C= (p.Thr4183=)
c.12621C= (p.Thr4207=)
1g.237784300C>GCA424032347RYR2c.*3680C>G (n.*3680C>G)
c.12576C>G (p.Thr4192=)
c.12609C>G (p.Thr4203=)
c.4765C>G
c.12588C>G (p.Thr4196=)
c.2641C>G
c.12540C>G (p.Thr4180=)
n.3783C>G
c.12642C>G (p.Thr4214=)
c.12639C>G (p.Thr4213=)
c.12618C>G (p.Thr4206=)
c.12612C>G (p.Thr4204=)
c.12606C>G (p.Thr4202=)
c.12582C>G (p.Thr4194=)
c.12405C>G (p.Thr4135=)
c.12549C>G (p.Thr4183=)
c.12621C>G (p.Thr4207=)
1g.237784300C>TCA39827782RYR2c.*3680C>T (n.*3680C>T)
c.12576C>T (p.Thr4192=)
c.12609C>T (p.Thr4203=)
c.4765C>T
c.12588C>T (p.Thr4196=)
c.2641C>T
c.12540C>T (p.Thr4180=)
n.3783C>T
c.12642C>T (p.Thr4214=)
c.12639C>T (p.Thr4213=)
c.12618C>T (p.Thr4206=)
c.12612C>T (p.Thr4204=)
c.12606C>T (p.Thr4202=)
c.12582C>T (p.Thr4194=)
c.12405C>T (p.Thr4135=)
c.12549C>T (p.Thr4183=)
c.12621C>T (p.Thr4207=)
 ClinVar dbSNP gnomAD v4
1g.237784301A=CA2487482471RYR2c.*3681A= (n.*3681A=)
c.12577A= (p.Ile4193=)
c.12610A= (p.Ile4204=)
c.4766A=
c.12589A= (p.Ile4197=)
c.2642A=
c.12541A= (p.Ile4181=)
n.3784A=
c.12643A= (p.Ile4215=)
c.12640A= (p.Ile4214=)
c.12619A= (p.Ile4207=)
c.12613A= (p.Ile4205=)
c.12607A= (p.Ile4203=)
c.12583A= (p.Ile4195=)
c.12406A= (p.Ile4136=)
c.12550A= (p.Ile4184=)
c.12622A= (p.Ile4208=)
1g.237784301A>CCA345413693RYR2c.*3681A>C (n.*3681A>C)
c.12577A>C (p.Ile4193Leu)
c.12610A>C (p.Ile4204Leu)
c.4766A>C
c.12589A>C (p.Ile4197Leu)
c.2642A>C
c.12541A>C (p.Ile4181Leu)
n.3784A>C
c.12643A>C (p.Ile4215Leu)
c.12640A>C (p.Ile4214Leu)
c.12619A>C (p.Ile4207Leu)
c.12613A>C (p.Ile4205Leu)
c.12607A>C (p.Ile4203Leu)
c.12583A>C (p.Ile4195Leu)
c.12406A>C (p.Ile4136Leu)
c.12550A>C (p.Ile4184Leu)
c.12622A>C (p.Ile4208Leu)
 ClinVar dbSNP
1g.237784301A>GCA085201RYR2c.*3681A>G (n.*3681A>G)
c.12577A>G (p.Ile4193Val)
c.12610A>G (p.Ile4204Val)
c.4766A>G
c.12589A>G (p.Ile4197Val)
c.2642A>G
c.12541A>G (p.Ile4181Val)
n.3784A>G
c.12643A>G (p.Ile4215Val)
c.12640A>G (p.Ile4214Val)
c.12619A>G (p.Ile4207Val)
c.12613A>G (p.Ile4205Val)
c.12607A>G (p.Ile4203Val)
c.12583A>G (p.Ile4195Val)
c.12406A>G (p.Ile4136Val)
c.12550A>G (p.Ile4184Val)
c.12622A>G (p.Ile4208Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.237784301A>TCA345413694RYR2c.*3681A>T (n.*3681A>T)
c.12577A>T (p.Ile4193Phe)
c.12610A>T (p.Ile4204Phe)
c.4766A>T
c.12589A>T (p.Ile4197Phe)
c.2642A>T
c.12541A>T (p.Ile4181Phe)
n.3784A>T
c.12643A>T (p.Ile4215Phe)
c.12640A>T (p.Ile4214Phe)
c.12619A>T (p.Ile4207Phe)
c.12613A>T (p.Ile4205Phe)
c.12607A>T (p.Ile4203Phe)
c.12583A>T (p.Ile4195Phe)
c.12406A>T (p.Ile4136Phe)
c.12550A>T (p.Ile4184Phe)
c.12622A>T (p.Ile4208Phe)
1g.237784302T>ACA345413695RYR2c.*3682T>A (n.*3682T>A)
c.12578T>A (p.Ile4193Asn)
c.12611T>A (p.Ile4204Asn)
c.4767T>A
c.12590T>A (p.Ile4197Asn)
c.2643T>A
c.12542T>A (p.Ile4181Asn)
n.3785T>A
c.12644T>A (p.Ile4215Asn)
c.12641T>A (p.Ile4214Asn)
c.12620T>A (p.Ile4207Asn)
c.12614T>A (p.Ile4205Asn)
c.12608T>A (p.Ile4203Asn)
c.12584T>A (p.Ile4195Asn)
c.12407T>A (p.Ile4136Asn)
c.12551T>A (p.Ile4184Asn)
c.12623T>A (p.Ile4208Asn)
1g.237784302T>CCA345413696RYR2c.*3682T>C (n.*3682T>C)
c.12578T>C (p.Ile4193Thr)
c.12611T>C (p.Ile4204Thr)
c.4767T>C
c.12590T>C (p.Ile4197Thr)
c.2643T>C
c.12542T>C (p.Ile4181Thr)
n.3785T>C
c.12644T>C (p.Ile4215Thr)
c.12641T>C (p.Ile4214Thr)
c.12620T>C (p.Ile4207Thr)
c.12614T>C (p.Ile4205Thr)
c.12608T>C (p.Ile4203Thr)
c.12584T>C (p.Ile4195Thr)
c.12407T>C (p.Ile4136Thr)
c.12551T>C (p.Ile4184Thr)
c.12623T>C (p.Ile4208Thr)
 ClinVar
1g.237784302T>GCA345413697RYR2c.*3682T>G (n.*3682T>G)
c.12578T>G (p.Ile4193Ser)
c.12611T>G (p.Ile4204Ser)
c.4767T>G
c.12590T>G (p.Ile4197Ser)
c.2643T>G
c.12542T>G (p.Ile4181Ser)
n.3785T>G
c.12644T>G (p.Ile4215Ser)
c.12641T>G (p.Ile4214Ser)
c.12620T>G (p.Ile4207Ser)
c.12614T>G (p.Ile4205Ser)
c.12608T>G (p.Ile4203Ser)
c.12584T>G (p.Ile4195Ser)
c.12407T>G (p.Ile4136Ser)
c.12551T>G (p.Ile4184Ser)
c.12623T>G (p.Ile4208Ser)
1g.237784302_237784303delinsTCCA2487482472RYR2c.*3682_*3683delinsTC (n.*3682_*3683delinsTC)
c.12578_12579delinsTC (p.Ile4193=)
c.12611_12612delinsTC (p.Ile4204=)
c.4767_4768delinsTC
c.12590_12591delinsTC (p.Ile4197=)
c.2643_2644delinsTC
c.12542_12543delinsTC (p.Ile4181=)
n.3785_3786delinsTC
c.12644_12645delinsTC (p.Ile4215=)
c.12641_12642delinsTC (p.Ile4214=)
c.12620_12621delinsTC (p.Ile4207=)
c.12614_12615delinsTC (p.Ile4205=)
c.12608_12609delinsTC (p.Ile4203=)
c.12584_12585delinsTC (p.Ile4195=)
c.12407_12408delinsTC (p.Ile4136=)
c.12551_12552delinsTC (p.Ile4184=)
c.12623_12624delinsTC (p.Ile4208=)
1g.237784303delCA529913009RYR2c.*3683del (n.*3683del)
c.12579del (p.Phe4194LeufsTer14)
c.12612del (p.Phe4205LeufsTer14)
c.4768del
c.12591del (p.Phe4198LeufsTer14)
c.2644del
c.12543del (p.Phe4182LeufsTer14)
n.3786del
c.12645del (p.Phe4216LeufsTer14)
c.12642del (p.Phe4215LeufsTer14)
c.12621del (p.Phe4208LeufsTer14)
c.12615del (p.Phe4206LeufsTer14)
c.12609del (p.Phe4204LeufsTer14)
c.12585del (p.Phe4196LeufsTer14)
c.12408del (p.Phe4137LeufsTer14)
c.12552del (p.Phe4185LeufsTer14)
c.12624del (p.Phe4209LeufsTer14)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237784303C>ACA424032349RYR2c.*3683C>A (n.*3683C>A)
c.12579C>A (p.Ile4193=)
c.12612C>A (p.Ile4204=)
c.4768C>A
c.12591C>A (p.Ile4197=)
c.2644C>A
c.12543C>A (p.Ile4181=)
n.3786C>A
c.12645C>A (p.Ile4215=)
c.12642C>A (p.Ile4214=)
c.12621C>A (p.Ile4207=)
c.12615C>A (p.Ile4205=)
c.12609C>A (p.Ile4203=)
c.12585C>A (p.Ile4195=)
c.12408C>A (p.Ile4136=)
c.12552C>A (p.Ile4184=)
c.12624C>A (p.Ile4208=)
 dbSNP
1g.237784303C>GCA345413698RYR2c.*3683C>G (n.*3683C>G)
c.12579C>G (p.Ile4193Met)
c.12612C>G (p.Ile4204Met)
c.4768C>G
c.12591C>G (p.Ile4197Met)
c.2644C>G
c.12543C>G (p.Ile4181Met)
n.3786C>G
c.12645C>G (p.Ile4215Met)
c.12642C>G (p.Ile4214Met)
c.12621C>G (p.Ile4207Met)
c.12615C>G (p.Ile4205Met)
c.12609C>G (p.Ile4203Met)
c.12585C>G (p.Ile4195Met)
c.12408C>G (p.Ile4136Met)
c.12552C>G (p.Ile4184Met)
c.12624C>G (p.Ile4208Met)
1g.237784303C>TCA424032350RYR2c.*3683C>T (n.*3683C>T)
c.12579C>T (p.Ile4193=)
c.12612C>T (p.Ile4204=)
c.4768C>T
c.12591C>T (p.Ile4197=)
c.2644C>T
c.12543C>T (p.Ile4181=)
n.3786C>T
c.12645C>T (p.Ile4215=)
c.12642C>T (p.Ile4214=)
c.12621C>T (p.Ile4207=)
c.12615C>T (p.Ile4205=)
c.12609C>T (p.Ile4203=)
c.12585C>T (p.Ile4195=)
c.12408C>T (p.Ile4136=)
c.12552C>T (p.Ile4184=)
c.12624C>T (p.Ile4208=)
1g.237784304T>ACA345413699RYR2c.*3684T>A (n.*3684T>A)
c.12580T>A (p.Phe4194Ile)
c.12613T>A (p.Phe4205Ile)
c.4769T>A
c.12592T>A (p.Phe4198Ile)
c.2645T>A
c.12544T>A (p.Phe4182Ile)
n.3787T>A
c.12646T>A (p.Phe4216Ile)
c.12643T>A (p.Phe4215Ile)
c.12622T>A (p.Phe4208Ile)
c.12616T>A (p.Phe4206Ile)
c.12610T>A (p.Phe4204Ile)
c.12586T>A (p.Phe4196Ile)
c.12409T>A (p.Phe4137Ile)
c.12553T>A (p.Phe4185Ile)
c.12625T>A (p.Phe4209Ile)
1g.237784304T>CCA345413700RYR2c.*3684T>C (n.*3684T>C)
c.12580T>C (p.Phe4194Leu)
c.12613T>C (p.Phe4205Leu)
c.4769T>C
c.12592T>C (p.Phe4198Leu)
c.2645T>C
c.12544T>C (p.Phe4182Leu)
n.3787T>C
c.12646T>C (p.Phe4216Leu)
c.12643T>C (p.Phe4215Leu)
c.12622T>C (p.Phe4208Leu)
c.12616T>C (p.Phe4206Leu)
c.12610T>C (p.Phe4204Leu)
c.12586T>C (p.Phe4196Leu)
c.12409T>C (p.Phe4137Leu)
c.12553T>C (p.Phe4185Leu)
c.12625T>C (p.Phe4209Leu)
1g.237784304T>GCA345413701RYR2c.*3684T>G (n.*3684T>G)
c.12580T>G (p.Phe4194Val)
c.12613T>G (p.Phe4205Val)
c.4769T>G
c.12592T>G (p.Phe4198Val)
c.2645T>G
c.12544T>G (p.Phe4182Val)
n.3787T>G
c.12646T>G (p.Phe4216Val)
c.12643T>G (p.Phe4215Val)
c.12622T>G (p.Phe4208Val)
c.12616T>G (p.Phe4206Val)
c.12610T>G (p.Phe4204Val)
c.12586T>G (p.Phe4196Val)
c.12409T>G (p.Phe4137Val)
c.12553T>G (p.Phe4185Val)
c.12625T>G (p.Phe4209Val)
1g.237784305T>ACA345413702RYR2c.*3685T>A (n.*3685T>A)
c.12581T>A (p.Phe4194Tyr)
c.12614T>A (p.Phe4205Tyr)
c.4770T>A
c.12593T>A (p.Phe4198Tyr)
c.2646T>A
c.12545T>A (p.Phe4182Tyr)
n.3788T>A
c.12647T>A (p.Phe4216Tyr)
c.12644T>A (p.Phe4215Tyr)
c.12623T>A (p.Phe4208Tyr)
c.12617T>A (p.Phe4206Tyr)
c.12611T>A (p.Phe4204Tyr)
c.12587T>A (p.Phe4196Tyr)
c.12410T>A (p.Phe4137Tyr)
c.12554T>A (p.Phe4185Tyr)
c.12626T>A (p.Phe4209Tyr)
 COSMIC COSMIC
1g.237784305T>CCA345413703RYR2c.*3685T>C (n.*3685T>C)
c.12581T>C (p.Phe4194Ser)
c.12614T>C (p.Phe4205Ser)
c.4770T>C
c.12593T>C (p.Phe4198Ser)
c.2646T>C
c.12545T>C (p.Phe4182Ser)
n.3788T>C
c.12647T>C (p.Phe4216Ser)
c.12644T>C (p.Phe4215Ser)
c.12623T>C (p.Phe4208Ser)
c.12617T>C (p.Phe4206Ser)
c.12611T>C (p.Phe4204Ser)
c.12587T>C (p.Phe4196Ser)
c.12410T>C (p.Phe4137Ser)
c.12554T>C (p.Phe4185Ser)
c.12626T>C (p.Phe4209Ser)
1g.237784305T>GCA345413704RYR2c.*3685T>G (n.*3685T>G)
c.12581T>G (p.Phe4194Cys)
c.12614T>G (p.Phe4205Cys)
c.4770T>G
c.12593T>G (p.Phe4198Cys)
c.2646T>G
c.12545T>G (p.Phe4182Cys)
n.3788T>G
c.12647T>G (p.Phe4216Cys)
c.12644T>G (p.Phe4215Cys)
c.12623T>G (p.Phe4208Cys)
c.12617T>G (p.Phe4206Cys)
c.12611T>G (p.Phe4204Cys)
c.12587T>G (p.Phe4196Cys)
c.12410T>G (p.Phe4137Cys)
c.12554T>G (p.Phe4185Cys)
c.12626T>G (p.Phe4209Cys)
1g.237784306T>ACA345413705RYR2c.*3686T>A (n.*3686T>A)
c.12582T>A (p.Phe4194Leu)
c.12615T>A (p.Phe4205Leu)
c.4771T>A
c.12594T>A (p.Phe4198Leu)
c.2647T>A
c.12546T>A (p.Phe4182Leu)
n.3789T>A
c.12648T>A (p.Phe4216Leu)
c.12645T>A (p.Phe4215Leu)
c.12624T>A (p.Phe4208Leu)
c.12618T>A (p.Phe4206Leu)
c.12612T>A (p.Phe4204Leu)
c.12588T>A (p.Phe4196Leu)
c.12411T>A (p.Phe4137Leu)
c.12555T>A (p.Phe4185Leu)
c.12627T>A (p.Phe4209Leu)
1g.237784306T>CCA424032352RYR2c.*3686T>C (n.*3686T>C)
c.12582T>C (p.Phe4194=)
c.12615T>C (p.Phe4205=)
c.4771T>C
c.12594T>C (p.Phe4198=)
c.2647T>C
c.12546T>C (p.Phe4182=)
n.3789T>C
c.12648T>C (p.Phe4216=)
c.12645T>C (p.Phe4215=)
c.12624T>C (p.Phe4208=)
c.12618T>C (p.Phe4206=)
c.12612T>C (p.Phe4204=)
c.12588T>C (p.Phe4196=)
c.12411T>C (p.Phe4137=)
c.12555T>C (p.Phe4185=)
c.12627T>C (p.Phe4209=)
1g.237784306T>GCA345413706RYR2c.*3686T>G (n.*3686T>G)
c.12582T>G (p.Phe4194Leu)
c.12615T>G (p.Phe4205Leu)
c.4771T>G
c.12594T>G (p.Phe4198Leu)
c.2647T>G
c.12546T>G (p.Phe4182Leu)
n.3789T>G
c.12648T>G (p.Phe4216Leu)
c.12645T>G (p.Phe4215Leu)
c.12624T>G (p.Phe4208Leu)
c.12618T>G (p.Phe4206Leu)
c.12612T>G (p.Phe4204Leu)
c.12588T>G (p.Phe4196Leu)
c.12411T>G (p.Phe4137Leu)
c.12555T>G (p.Phe4185Leu)
c.12627T>G (p.Phe4209Leu)
1g.237784307G>ACA345413707RYR2c.*3687G>A (n.*3687G>A)
c.12583G>A (p.Glu4195Lys)
c.12616G>A (p.Glu4206Lys)
c.4772G>A
c.12595G>A (p.Glu4199Lys)
c.2648G>A
c.12547G>A (p.Glu4183Lys)
n.3790G>A
c.12649G>A (p.Glu4217Lys)
c.12646G>A (p.Glu4216Lys)
c.12625G>A (p.Glu4209Lys)
c.12619G>A (p.Glu4207Lys)
c.12613G>A (p.Glu4205Lys)
c.12589G>A (p.Glu4197Lys)
c.12412G>A (p.Glu4138Lys)
c.12556G>A (p.Glu4186Lys)
c.12628G>A (p.Glu4210Lys)
1g.237784307G>CCA345413708RYR2c.*3687G>C (n.*3687G>C)
c.12583G>C (p.Glu4195Gln)
c.12616G>C (p.Glu4206Gln)
c.4772G>C
c.12595G>C (p.Glu4199Gln)
c.2648G>C
c.12547G>C (p.Glu4183Gln)
n.3790G>C
c.12649G>C (p.Glu4217Gln)
c.12646G>C (p.Glu4216Gln)
c.12625G>C (p.Glu4209Gln)
c.12619G>C (p.Glu4207Gln)
c.12613G>C (p.Glu4205Gln)
c.12589G>C (p.Glu4197Gln)
c.12412G>C (p.Glu4138Gln)
c.12556G>C (p.Glu4186Gln)
c.12628G>C (p.Glu4210Gln)
 ClinVar
1g.237784307G>TCA345413709RYR2c.*3687G>T (n.*3687G>T)
c.12583G>T (p.Glu4195Ter)
c.12616G>T (p.Glu4206Ter)
c.4772G>T
c.12595G>T (p.Glu4199Ter)
c.2648G>T
c.12547G>T (p.Glu4183Ter)
n.3790G>T
c.12649G>T (p.Glu4217Ter)
c.12646G>T (p.Glu4216Ter)
c.12625G>T (p.Glu4209Ter)
c.12619G>T (p.Glu4207Ter)
c.12613G>T (p.Glu4205Ter)
c.12589G>T (p.Glu4197Ter)
c.12412G>T (p.Glu4138Ter)
c.12556G>T (p.Glu4186Ter)
c.12628G>T (p.Glu4210Ter)
1g.237784308A>CCA345413710RYR2c.*3688A>C (n.*3688A>C)
c.12584A>C (p.Glu4195Ala)
c.12617A>C (p.Glu4206Ala)
c.4773A>C
c.12596A>C (p.Glu4199Ala)
c.2649A>C
c.12548A>C (p.Glu4183Ala)
n.3791A>C
c.12650A>C (p.Glu4217Ala)
c.12647A>C (p.Glu4216Ala)
c.12626A>C (p.Glu4209Ala)
c.12620A>C (p.Glu4207Ala)
c.12614A>C (p.Glu4205Ala)
c.12590A>C (p.Glu4197Ala)
c.12413A>C (p.Glu4138Ala)
c.12557A>C (p.Glu4186Ala)
c.12629A>C (p.Glu4210Ala)
1g.237784308A>GCA345413711RYR2c.*3688A>G (n.*3688A>G)
c.12584A>G (p.Glu4195Gly)
c.12617A>G (p.Glu4206Gly)
c.4773A>G
c.12596A>G (p.Glu4199Gly)
c.2649A>G
c.12548A>G (p.Glu4183Gly)
n.3791A>G
c.12650A>G (p.Glu4217Gly)
c.12647A>G (p.Glu4216Gly)
c.12626A>G (p.Glu4209Gly)
c.12620A>G (p.Glu4207Gly)
c.12614A>G (p.Glu4205Gly)
c.12590A>G (p.Glu4197Gly)
c.12413A>G (p.Glu4138Gly)
c.12557A>G (p.Glu4186Gly)
c.12629A>G (p.Glu4210Gly)
1g.237784308A>TCA345413712RYR2c.*3688A>T (n.*3688A>T)
c.12584A>T (p.Glu4195Val)
c.12617A>T (p.Glu4206Val)
c.4773A>T
c.12596A>T (p.Glu4199Val)
c.2649A>T
c.12548A>T (p.Glu4183Val)
n.3791A>T
c.12650A>T (p.Glu4217Val)
c.12647A>T (p.Glu4216Val)
c.12626A>T (p.Glu4209Val)
c.12620A>T (p.Glu4207Val)
c.12614A>T (p.Glu4205Val)
c.12590A>T (p.Glu4197Val)
c.12413A>T (p.Glu4138Val)
c.12557A>T (p.Glu4186Val)
c.12629A>T (p.Glu4210Val)
1g.237784309A>CCA345413713RYR2c.*3689A>C (n.*3689A>C)
c.12585A>C (p.Glu4195Asp)
c.12618A>C (p.Glu4206Asp)
c.4774A>C
c.12597A>C (p.Glu4199Asp)
c.2650A>C
c.12549A>C (p.Glu4183Asp)
n.3792A>C
c.12651A>C (p.Glu4217Asp)
c.12648A>C (p.Glu4216Asp)
c.12627A>C (p.Glu4209Asp)
c.12621A>C (p.Glu4207Asp)
c.12615A>C (p.Glu4205Asp)
c.12591A>C (p.Glu4197Asp)
c.12414A>C (p.Glu4138Asp)
c.12558A>C (p.Glu4186Asp)
c.12630A>C (p.Glu4210Asp)
1g.237784309A>GCA424032356RYR2c.*3689A>G (n.*3689A>G)
c.12585A>G (p.Glu4195=)
c.12618A>G (p.Glu4206=)
c.4774A>G
c.12597A>G (p.Glu4199=)
c.2650A>G
c.12549A>G (p.Glu4183=)
n.3792A>G
c.12651A>G (p.Glu4217=)
c.12648A>G (p.Glu4216=)
c.12627A>G (p.Glu4209=)
c.12621A>G (p.Glu4207=)
c.12615A>G (p.Glu4205=)
c.12591A>G (p.Glu4197=)
c.12414A>G (p.Glu4138=)
c.12558A>G (p.Glu4186=)
c.12630A>G (p.Glu4210=)
1g.237784309A>TCA345413714RYR2c.*3689A>T (n.*3689A>T)
c.12585A>T (p.Glu4195Asp)
c.12618A>T (p.Glu4206Asp)
c.4774A>T
c.12597A>T (p.Glu4199Asp)
c.2650A>T
c.12549A>T (p.Glu4183Asp)
n.3792A>T
c.12651A>T (p.Glu4217Asp)
c.12648A>T (p.Glu4216Asp)
c.12627A>T (p.Glu4209Asp)
c.12621A>T (p.Glu4207Asp)
c.12615A>T (p.Glu4205Asp)
c.12591A>T (p.Glu4197Asp)
c.12414A>T (p.Glu4138Asp)
c.12558A>T (p.Glu4186Asp)
c.12630A>T (p.Glu4210Asp)
1g.237784310A>CCA345413715RYR2c.*3690A>C (n.*3690A>C)
c.12586A>C (p.Met4196Leu)
c.12619A>C (p.Met4207Leu)
c.4775A>C
c.12598A>C (p.Met4200Leu)
c.2651A>C
c.12550A>C (p.Met4184Leu)
n.3793A>C
c.12652A>C (p.Met4218Leu)
c.12649A>C (p.Met4217Leu)
c.12628A>C (p.Met4210Leu)
c.12622A>C (p.Met4208Leu)
c.12616A>C (p.Met4206Leu)
c.12592A>C (p.Met4198Leu)
c.12415A>C (p.Met4139Leu)
c.12559A>C (p.Met4187Leu)
c.12631A>C (p.Met4211Leu)
1g.237784310A>GCA345413717RYR2c.*3690A>G (n.*3690A>G)
c.12586A>G (p.Met4196Val)
c.12619A>G (p.Met4207Val)
c.4775A>G
c.12598A>G (p.Met4200Val)
c.2651A>G
c.12550A>G (p.Met4184Val)
n.3793A>G
c.12652A>G (p.Met4218Val)
c.12649A>G (p.Met4217Val)
c.12628A>G (p.Met4210Val)
c.12622A>G (p.Met4208Val)
c.12616A>G (p.Met4206Val)
c.12592A>G (p.Met4198Val)
c.12415A>G (p.Met4139Val)
c.12559A>G (p.Met4187Val)
c.12631A>G (p.Met4211Val)
1g.237784310A>TCA345413716RYR2c.*3690A>T (n.*3690A>T)
c.12586A>T (p.Met4196Leu)
c.12619A>T (p.Met4207Leu)
c.4775A>T
c.12598A>T (p.Met4200Leu)
c.2651A>T
c.12550A>T (p.Met4184Leu)
n.3793A>T
c.12652A>T (p.Met4218Leu)
c.12649A>T (p.Met4217Leu)
c.12628A>T (p.Met4210Leu)
c.12622A>T (p.Met4208Leu)
c.12616A>T (p.Met4206Leu)
c.12592A>T (p.Met4198Leu)
c.12415A>T (p.Met4139Leu)
c.12559A>T (p.Met4187Leu)
c.12631A>T (p.Met4211Leu)
1g.237784311T>ACA345413718RYR2c.*3691T>A (n.*3691T>A)
c.12587T>A (p.Met4196Lys)
c.12620T>A (p.Met4207Lys)
c.4776T>A
c.12599T>A (p.Met4200Lys)
c.2652T>A
c.12551T>A (p.Met4184Lys)
n.3794T>A
c.12653T>A (p.Met4218Lys)
c.12650T>A (p.Met4217Lys)
c.12629T>A (p.Met4210Lys)
c.12623T>A (p.Met4208Lys)
c.12617T>A (p.Met4206Lys)
c.12593T>A (p.Met4198Lys)
c.12416T>A (p.Met4139Lys)
c.12560T>A (p.Met4187Lys)
c.12632T>A (p.Met4211Lys)
1g.237784311T>CCA345413719RYR2c.*3691T>C (n.*3691T>C)
c.12587T>C (p.Met4196Thr)
c.12620T>C (p.Met4207Thr)
c.4776T>C
c.12599T>C (p.Met4200Thr)
c.2652T>C
c.12551T>C (p.Met4184Thr)
n.3794T>C
c.12653T>C (p.Met4218Thr)
c.12650T>C (p.Met4217Thr)
c.12629T>C (p.Met4210Thr)
c.12623T>C (p.Met4208Thr)
c.12617T>C (p.Met4206Thr)
c.12593T>C (p.Met4198Thr)
c.12416T>C (p.Met4139Thr)
c.12560T>C (p.Met4187Thr)
c.12632T>C (p.Met4211Thr)
1g.237784311T>GCA345413720RYR2c.*3691T>G (n.*3691T>G)
c.12587T>G (p.Met4196Arg)
c.12620T>G (p.Met4207Arg)
c.4776T>G
c.12599T>G (p.Met4200Arg)
c.2652T>G
c.12551T>G (p.Met4184Arg)
n.3794T>G
c.12653T>G (p.Met4218Arg)
c.12650T>G (p.Met4217Arg)
c.12629T>G (p.Met4210Arg)
c.12623T>G (p.Met4208Arg)
c.12617T>G (p.Met4206Arg)
c.12593T>G (p.Met4198Arg)
c.12416T>G (p.Met4139Arg)
c.12560T>G (p.Met4187Arg)
c.12632T>G (p.Met4211Arg)
1g.237784312G>ACA345413721RYR2c.*3692G>A (n.*3692G>A)
c.12588G>A (p.Met4196Ile)
c.12621G>A (p.Met4207Ile)
c.4777G>A
c.12600G>A (p.Met4200Ile)
c.2653G>A
c.12552G>A (p.Met4184Ile)
n.3795G>A
c.12654G>A (p.Met4218Ile)
c.12651G>A (p.Met4217Ile)
c.12630G>A (p.Met4210Ile)
c.12624G>A (p.Met4208Ile)
c.12618G>A (p.Met4206Ile)
c.12594G>A (p.Met4198Ile)
c.12417G>A (p.Met4139Ile)
c.12561G>A (p.Met4187Ile)
c.12633G>A (p.Met4211Ile)
1g.237784312G>CCA345413722RYR2c.*3692G>C (n.*3692G>C)
c.12588G>C (p.Met4196Ile)
c.12621G>C (p.Met4207Ile)
c.4777G>C
c.12600G>C (p.Met4200Ile)
c.2653G>C
c.12552G>C (p.Met4184Ile)
n.3795G>C
c.12654G>C (p.Met4218Ile)
c.12651G>C (p.Met4217Ile)
c.12630G>C (p.Met4210Ile)
c.12624G>C (p.Met4208Ile)
c.12618G>C (p.Met4206Ile)
c.12594G>C (p.Met4198Ile)
c.12417G>C (p.Met4139Ile)
c.12561G>C (p.Met4187Ile)
c.12633G>C (p.Met4211Ile)
1g.237784312G>TCA345413723RYR2c.*3692G>T (n.*3692G>T)
c.12588G>T (p.Met4196Ile)
c.12621G>T (p.Met4207Ile)
c.4777G>T
c.12600G>T (p.Met4200Ile)
c.2653G>T
c.12552G>T (p.Met4184Ile)
n.3795G>T
c.12654G>T (p.Met4218Ile)
c.12651G>T (p.Met4217Ile)
c.12630G>T (p.Met4210Ile)
c.12624G>T (p.Met4208Ile)
c.12618G>T (p.Met4206Ile)
c.12594G>T (p.Met4198Ile)
c.12417G>T (p.Met4139Ile)
c.12561G>T (p.Met4187Ile)
c.12633G>T (p.Met4211Ile)
1g.237784313C>ACA345413724RYR2c.*3693C>A (n.*3693C>A)
c.12589C>A (p.Gln4197Lys)
c.12622C>A (p.Gln4208Lys)
c.4778C>A
c.12601C>A (p.Gln4201Lys)
c.2654C>A
c.12553C>A (p.Gln4185Lys)
n.3796C>A
c.12655C>A (p.Gln4219Lys)
c.12652C>A (p.Gln4218Lys)
c.12631C>A (p.Gln4211Lys)
c.12625C>A (p.Gln4209Lys)
c.12619C>A (p.Gln4207Lys)
c.12595C>A (p.Gln4199Lys)
c.12418C>A (p.Gln4140Lys)
c.12562C>A (p.Gln4188Lys)
c.12634C>A (p.Gln4212Lys)
1g.237784313C>GCA345413725RYR2c.*3693C>G (n.*3693C>G)
c.12589C>G (p.Gln4197Glu)
c.12622C>G (p.Gln4208Glu)
c.4778C>G
c.12601C>G (p.Gln4201Glu)
c.2654C>G
c.12553C>G (p.Gln4185Glu)
n.3796C>G
c.12655C>G (p.Gln4219Glu)
c.12652C>G (p.Gln4218Glu)
c.12631C>G (p.Gln4211Glu)
c.12625C>G (p.Gln4209Glu)
c.12619C>G (p.Gln4207Glu)
c.12595C>G (p.Gln4199Glu)
c.12418C>G (p.Gln4140Glu)
c.12562C>G (p.Gln4188Glu)
c.12634C>G (p.Gln4212Glu)
1g.237784313C>TCA345413726RYR2c.*3693C>T (n.*3693C>T)
c.12589C>T (p.Gln4197Ter)
c.12622C>T (p.Gln4208Ter)
c.4778C>T
c.12601C>T (p.Gln4201Ter)
c.2654C>T
c.12553C>T (p.Gln4185Ter)
n.3796C>T
c.12655C>T (p.Gln4219Ter)
c.12652C>T (p.Gln4218Ter)
c.12631C>T (p.Gln4211Ter)
c.12625C>T (p.Gln4209Ter)
c.12619C>T (p.Gln4207Ter)
c.12595C>T (p.Gln4199Ter)
c.12418C>T (p.Gln4140Ter)
c.12562C>T (p.Gln4188Ter)
c.12634C>T (p.Gln4212Ter)
 COSMIC COSMIC
1g.237784314A=CA1141581501RYR2c.*3694A= (n.*3694A=)
c.12590A= (p.Gln4197=)
c.12623A= (p.Gln4208=)
c.4779A=
c.12602A= (p.Gln4201=)
c.2655A=
c.12554A= (p.Gln4185=)
n.3797A=
c.12656A= (p.Gln4219=)
c.12653A= (p.Gln4218=)
c.12632A= (p.Gln4211=)
c.12626A= (p.Gln4209=)
c.12620A= (p.Gln4207=)
c.12596A= (p.Gln4199=)
c.12419A= (p.Gln4140=)
c.12563A= (p.Gln4188=)
c.12635A= (p.Gln4212=)
1g.237784314A>CCA345413727RYR2c.*3694A>C (n.*3694A>C)
c.12590A>C (p.Gln4197Pro)
c.12623A>C (p.Gln4208Pro)
c.4779A>C
c.12602A>C (p.Gln4201Pro)
c.2655A>C
c.12554A>C (p.Gln4185Pro)
n.3797A>C
c.12656A>C (p.Gln4219Pro)
c.12653A>C (p.Gln4218Pro)
c.12632A>C (p.Gln4211Pro)
c.12626A>C (p.Gln4209Pro)
c.12620A>C (p.Gln4207Pro)
c.12596A>C (p.Gln4199Pro)
c.12419A>C (p.Gln4140Pro)
c.12563A>C (p.Gln4188Pro)
c.12635A>C (p.Gln4212Pro)
1g.237784314A>GCA007638RYR2c.*3694A>G (n.*3694A>G)
c.12590A>G (p.Gln4197Arg)
c.12623A>G (p.Gln4208Arg)
c.4779A>G
c.12602A>G (p.Gln4201Arg)
c.2655A>G
c.12554A>G (p.Gln4185Arg)
n.3797A>G
c.12656A>G (p.Gln4219Arg)
c.12653A>G (p.Gln4218Arg)
c.12632A>G (p.Gln4211Arg)
c.12626A>G (p.Gln4209Arg)
c.12620A>G (p.Gln4207Arg)
c.12596A>G (p.Gln4199Arg)
c.12419A>G (p.Gln4140Arg)
c.12563A>G (p.Gln4188Arg)
c.12635A>G (p.Gln4212Arg)
 ClinVar dbSNP
1g.237784314A>TCA345413728RYR2c.*3694A>T (n.*3694A>T)
c.12590A>T (p.Gln4197Leu)
c.12623A>T (p.Gln4208Leu)
c.4779A>T
c.12602A>T (p.Gln4201Leu)
c.2655A>T
c.12554A>T (p.Gln4185Leu)
n.3797A>T
c.12656A>T (p.Gln4219Leu)
c.12653A>T (p.Gln4218Leu)
c.12632A>T (p.Gln4211Leu)
c.12626A>T (p.Gln4209Leu)
c.12620A>T (p.Gln4207Leu)
c.12596A>T (p.Gln4199Leu)
c.12419A>T (p.Gln4140Leu)
c.12563A>T (p.Gln4188Leu)
c.12635A>T (p.Gln4212Leu)
1g.237784314_237784315delCA2504304307RYR2c.*3694_*3695del (n.*3694_*3695del)
c.12590_12591del (p.Gln4197ProfsTer17)
c.12623_12624del (p.Gln4208ProfsTer17)
c.4779_4780del
c.12602_12603del (p.Gln4201ProfsTer17)
c.2655_2656del
c.12554_12555del (p.Gln4185ProfsTer17)
n.3797_3798del
c.12656_12657del (p.Gln4219ProfsTer17)
c.12653_12654del (p.Gln4218ProfsTer17)
c.12632_12633del (p.Gln4211ProfsTer17)
c.12626_12627del (p.Gln4209ProfsTer17)
c.12620_12621del (p.Gln4207ProfsTer17)
c.12596_12597del (p.Gln4199ProfsTer17)
c.12419_12420del (p.Gln4140ProfsTer17)
c.12563_12564del (p.Gln4188ProfsTer17)
c.12635_12636del (p.Gln4212ProfsTer17)
1g.237784315G>ACA424032360RYR2c.*3695G>A (n.*3695G>A)
c.12591G>A (p.Gln4197=)
c.12624G>A (p.Gln4208=)
c.4780G>A
c.12603G>A (p.Gln4201=)
c.2656G>A
c.12555G>A (p.Gln4185=)
n.3798G>A
c.12657G>A (p.Gln4219=)
c.12654G>A (p.Gln4218=)
c.12633G>A (p.Gln4211=)
c.12627G>A (p.Gln4209=)
c.12621G>A (p.Gln4207=)
c.12597G>A (p.Gln4199=)
c.12420G>A (p.Gln4140=)
c.12564G>A (p.Gln4188=)
c.12636G>A (p.Gln4212=)
1g.237784315G>CCA345413729RYR2c.*3695G>C (n.*3695G>C)
c.12591G>C (p.Gln4197His)
c.12624G>C (p.Gln4208His)
c.4780G>C
c.12603G>C (p.Gln4201His)
c.2656G>C
c.12555G>C (p.Gln4185His)
n.3798G>C
c.12657G>C (p.Gln4219His)
c.12654G>C (p.Gln4218His)
c.12633G>C (p.Gln4211His)
c.12627G>C (p.Gln4209His)
c.12621G>C (p.Gln4207His)
c.12597G>C (p.Gln4199His)
c.12420G>C (p.Gln4140His)
c.12564G>C (p.Gln4188His)
c.12636G>C (p.Gln4212His)
1g.237784315G>TCA345413730RYR2c.*3695G>T (n.*3695G>T)
c.12591G>T (p.Gln4197His)
c.12624G>T (p.Gln4208His)
c.4780G>T
c.12603G>T (p.Gln4201His)
c.2656G>T
c.12555G>T (p.Gln4185His)
n.3798G>T
c.12657G>T (p.Gln4219His)
c.12654G>T (p.Gln4218His)
c.12633G>T (p.Gln4211His)
c.12627G>T (p.Gln4209His)
c.12621G>T (p.Gln4207His)
c.12597G>T (p.Gln4199His)
c.12420G>T (p.Gln4140His)
c.12564G>T (p.Gln4188His)
c.12636G>T (p.Gln4212His)
 ClinVar dbSNP COSMIC COSMIC
1g.237784316C>ACA345413731RYR2c.*3696C>A (n.*3696C>A)
c.12592C>A (p.Leu4198Met)
c.12625C>A (p.Leu4209Met)
c.4781C>A
c.12604C>A (p.Leu4202Met)
c.2657C>A
c.12556C>A (p.Leu4186Met)
n.3799C>A
c.12658C>A (p.Leu4220Met)
c.12655C>A (p.Leu4219Met)
c.12634C>A (p.Leu4212Met)
c.12628C>A (p.Leu4210Met)
c.12622C>A (p.Leu4208Met)
c.12598C>A (p.Leu4200Met)
c.12421C>A (p.Leu4141Met)
c.12565C>A (p.Leu4189Met)
c.12637C>A (p.Leu4213Met)
1g.237784316C>GCA345413732RYR2c.*3696C>G (n.*3696C>G)
c.12592C>G (p.Leu4198Val)
c.12625C>G (p.Leu4209Val)
c.4781C>G
c.12604C>G (p.Leu4202Val)
c.2657C>G
c.12556C>G (p.Leu4186Val)
n.3799C>G
c.12658C>G (p.Leu4220Val)
c.12655C>G (p.Leu4219Val)
c.12634C>G (p.Leu4212Val)
c.12628C>G (p.Leu4210Val)
c.12622C>G (p.Leu4208Val)
c.12598C>G (p.Leu4200Val)
c.12421C>G (p.Leu4141Val)
c.12565C>G (p.Leu4189Val)
c.12637C>G (p.Leu4213Val)
1g.237784316C>TCA424032361RYR2c.*3696C>T (n.*3696C>T)
c.12592C>T (p.Leu4198=)
c.12625C>T (p.Leu4209=)
c.4781C>T
c.12604C>T (p.Leu4202=)
c.2657C>T
c.12556C>T (p.Leu4186=)
n.3799C>T
c.12658C>T (p.Leu4220=)
c.12655C>T (p.Leu4219=)
c.12634C>T (p.Leu4212=)
c.12628C>T (p.Leu4210=)
c.12622C>T (p.Leu4208=)
c.12598C>T (p.Leu4200=)
c.12421C>T (p.Leu4141=)
c.12565C>T (p.Leu4189=)
c.12637C>T (p.Leu4213=)
1g.237784317T>ACA345413733RYR2c.*3697T>A (n.*3697T>A)
c.12593T>A (p.Leu4198Gln)
c.12626T>A (p.Leu4209Gln)
c.4782T>A
c.12605T>A (p.Leu4202Gln)
c.2658T>A
c.12557T>A (p.Leu4186Gln)
n.3800T>A
c.12659T>A (p.Leu4220Gln)
c.12656T>A (p.Leu4219Gln)
c.12635T>A (p.Leu4212Gln)
c.12629T>A (p.Leu4210Gln)
c.12623T>A (p.Leu4208Gln)
c.12599T>A (p.Leu4200Gln)
c.12422T>A (p.Leu4141Gln)
c.12566T>A (p.Leu4189Gln)
c.12638T>A (p.Leu4213Gln)
1g.237784317T>CCA345413734RYR2c.*3697T>C (n.*3697T>C)
c.12593T>C (p.Leu4198Pro)
c.12626T>C (p.Leu4209Pro)
c.4782T>C
c.12605T>C (p.Leu4202Pro)
c.2658T>C
c.12557T>C (p.Leu4186Pro)
n.3800T>C
c.12659T>C (p.Leu4220Pro)
c.12656T>C (p.Leu4219Pro)
c.12635T>C (p.Leu4212Pro)
c.12629T>C (p.Leu4210Pro)
c.12623T>C (p.Leu4208Pro)
c.12599T>C (p.Leu4200Pro)
c.12422T>C (p.Leu4141Pro)
c.12566T>C (p.Leu4189Pro)
c.12638T>C (p.Leu4213Pro)
 gnomAD v4
1g.237784317T>GCA345413735RYR2c.*3697T>G (n.*3697T>G)
c.12593T>G (p.Leu4198Arg)
c.12626T>G (p.Leu4209Arg)
c.4782T>G
c.12605T>G (p.Leu4202Arg)
c.2658T>G
c.12557T>G (p.Leu4186Arg)
n.3800T>G
c.12659T>G (p.Leu4220Arg)
c.12656T>G (p.Leu4219Arg)
c.12635T>G (p.Leu4212Arg)
c.12629T>G (p.Leu4210Arg)
c.12623T>G (p.Leu4208Arg)
c.12599T>G (p.Leu4200Arg)
c.12422T>G (p.Leu4141Arg)
c.12566T>G (p.Leu4189Arg)
c.12638T>G (p.Leu4213Arg)
1g.237784318G>ACA424032364RYR2c.*3698G>A (n.*3698G>A)
c.12594G>A (p.Leu4198=)
c.12627G>A (p.Leu4209=)
c.4783G>A
c.12606G>A (p.Leu4202=)
c.2659G>A
c.12558G>A (p.Leu4186=)
n.3801G>A
c.12660G>A (p.Leu4220=)
c.12657G>A (p.Leu4219=)
c.12636G>A (p.Leu4212=)
c.12630G>A (p.Leu4210=)
c.12624G>A (p.Leu4208=)
c.12600G>A (p.Leu4200=)
c.12423G>A (p.Leu4141=)
c.12567G>A (p.Leu4189=)
c.12639G>A (p.Leu4213=)
 ClinVar dbSNP
1g.237784318G>CCA424032363RYR2c.*3698G>C (n.*3698G>C)
c.12594G>C (p.Leu4198=)
c.12627G>C (p.Leu4209=)
c.4783G>C
c.12606G>C (p.Leu4202=)
c.2659G>C
c.12558G>C (p.Leu4186=)
n.3801G>C
c.12660G>C (p.Leu4220=)
c.12657G>C (p.Leu4219=)
c.12636G>C (p.Leu4212=)
c.12630G>C (p.Leu4210=)
c.12624G>C (p.Leu4208=)
c.12600G>C (p.Leu4200=)
c.12423G>C (p.Leu4141=)
c.12567G>C (p.Leu4189=)
c.12639G>C (p.Leu4213=)
1g.237784318G>TCA424032362RYR2c.*3698G>T (n.*3698G>T)
c.12594G>T (p.Leu4198=)
c.12627G>T (p.Leu4209=)
c.4783G>T
c.12606G>T (p.Leu4202=)
c.2659G>T
c.12558G>T (p.Leu4186=)
n.3801G>T
c.12660G>T (p.Leu4220=)
c.12657G>T (p.Leu4219=)
c.12636G>T (p.Leu4212=)
c.12630G>T (p.Leu4210=)
c.12624G>T (p.Leu4208=)
c.12600G>T (p.Leu4200=)
c.12423G>T (p.Leu4141=)
c.12567G>T (p.Leu4189=)
c.12639G>T (p.Leu4213=)
1g.237784319G>ACA066522RYR2c.*3699G>A (n.*3699G>A)
c.12595G>A (p.Ala4199Thr)
c.12628G>A (p.Ala4210Thr)
c.4784G>A
c.12607G>A (p.Ala4203Thr)
c.2660G>A
c.12559G>A (p.Ala4187Thr)
n.3802G>A
c.12661G>A (p.Ala4221Thr)
c.12658G>A (p.Ala4220Thr)
c.12637G>A (p.Ala4213Thr)
c.12631G>A (p.Ala4211Thr)
c.12625G>A (p.Ala4209Thr)
c.12601G>A (p.Ala4201Thr)
c.12424G>A (p.Ala4142Thr)
c.12568G>A (p.Ala4190Thr)
c.12640G>A (p.Ala4214Thr)
1g.237784319G>CCA345413736RYR2c.*3699G>C (n.*3699G>C)
c.12595G>C (p.Ala4199Pro)
c.12628G>C (p.Ala4210Pro)
c.4784G>C
c.12607G>C (p.Ala4203Pro)
c.2660G>C
c.12559G>C (p.Ala4187Pro)
n.3802G>C
c.12661G>C (p.Ala4221Pro)
c.12658G>C (p.Ala4220Pro)
c.12637G>C (p.Ala4213Pro)
c.12631G>C (p.Ala4211Pro)
c.12625G>C (p.Ala4209Pro)
c.12601G>C (p.Ala4201Pro)
c.12424G>C (p.Ala4142Pro)
c.12568G>C (p.Ala4190Pro)
c.12640G>C (p.Ala4214Pro)
1g.237784319G>TCA345413737RYR2c.*3699G>T (n.*3699G>T)
c.12595G>T (p.Ala4199Ser)
c.12628G>T (p.Ala4210Ser)
c.4784G>T
c.12607G>T (p.Ala4203Ser)
c.2660G>T
c.12559G>T (p.Ala4187Ser)
n.3802G>T
c.12661G>T (p.Ala4221Ser)
c.12658G>T (p.Ala4220Ser)
c.12637G>T (p.Ala4213Ser)
c.12631G>T (p.Ala4211Ser)
c.12625G>T (p.Ala4209Ser)
c.12601G>T (p.Ala4201Ser)
c.12424G>T (p.Ala4142Ser)
c.12568G>T (p.Ala4190Ser)
c.12640G>T (p.Ala4214Ser)
1g.237784320delCA2517805848RYR2c.*3700del (n.*3700del)
c.12596del (p.Ala4199GlyfsTer9)
c.12629del (p.Ala4210GlyfsTer9)
c.4785del
c.12608del (p.Ala4203GlyfsTer9)
c.2661del
c.12560del (p.Ala4187GlyfsTer9)
n.3803del
c.12662del (p.Ala4221GlyfsTer9)
c.12659del (p.Ala4220GlyfsTer9)
c.12638del (p.Ala4213GlyfsTer9)
c.12632del (p.Ala4211GlyfsTer9)
c.12626del (p.Ala4209GlyfsTer9)
c.12602del (p.Ala4201GlyfsTer9)
c.12425del (p.Ala4142GlyfsTer9)
c.12569del (p.Ala4190GlyfsTer9)
c.12641del (p.Ala4214GlyfsTer9)
1g.237784320C>ACA345413738RYR2c.*3700C>A (n.*3700C>A)
c.12596C>A (p.Ala4199Glu)
c.12629C>A (p.Ala4210Glu)
c.4785C>A
c.12608C>A (p.Ala4203Glu)
c.2661C>A
c.12560C>A (p.Ala4187Glu)
n.3803C>A
c.12662C>A (p.Ala4221Glu)
c.12659C>A (p.Ala4220Glu)
c.12638C>A (p.Ala4213Glu)
c.12632C>A (p.Ala4211Glu)
c.12626C>A (p.Ala4209Glu)
c.12602C>A (p.Ala4201Glu)
c.12425C>A (p.Ala4142Glu)
c.12569C>A (p.Ala4190Glu)
c.12641C>A (p.Ala4214Glu)
1g.237784320C=CA2487482473RYR2c.*3700C= (n.*3700C=)
c.12596C= (p.Ala4199=)
c.12629C= (p.Ala4210=)
c.4785C=
c.12608C= (p.Ala4203=)
c.2661C=
c.12560C= (p.Ala4187=)
n.3803C=
c.12662C= (p.Ala4221=)
c.12659C= (p.Ala4220=)
c.12638C= (p.Ala4213=)
c.12632C= (p.Ala4211=)
c.12626C= (p.Ala4209=)
c.12602C= (p.Ala4201=)
c.12425C= (p.Ala4142=)
c.12569C= (p.Ala4190=)
c.12641C= (p.Ala4214=)
1g.237784320C>GCA345413739RYR2c.*3700C>G (n.*3700C>G)
c.12596C>G (p.Ala4199Gly)
c.12629C>G (p.Ala4210Gly)
c.4785C>G
c.12608C>G (p.Ala4203Gly)
c.2661C>G
c.12560C>G (p.Ala4187Gly)
n.3803C>G
c.12662C>G (p.Ala4221Gly)
c.12659C>G (p.Ala4220Gly)
c.12638C>G (p.Ala4213Gly)
c.12632C>G (p.Ala4211Gly)
c.12626C>G (p.Ala4209Gly)
c.12602C>G (p.Ala4201Gly)
c.12425C>G (p.Ala4142Gly)
c.12569C>G (p.Ala4190Gly)
c.12641C>G (p.Ala4214Gly)
1g.237784320C>TCA007648RYR2c.*3700C>T (n.*3700C>T)
c.12596C>T (p.Ala4199Val)
c.12629C>T (p.Ala4210Val)
c.4785C>T
c.12608C>T (p.Ala4203Val)
c.2661C>T
c.12560C>T (p.Ala4187Val)
n.3803C>T
c.12662C>T (p.Ala4221Val)
c.12659C>T (p.Ala4220Val)
c.12638C>T (p.Ala4213Val)
c.12632C>T (p.Ala4211Val)
c.12626C>T (p.Ala4209Val)
c.12602C>T (p.Ala4201Val)
c.12425C>T (p.Ala4142Val)
c.12569C>T (p.Ala4190Val)
c.12641C>T (p.Ala4214Val)
 ClinVar dbSNP gnomAD v4
1g.237784321G>ACA085202RYR2c.*3701G>A (n.*3701G>A)
c.12597G>A (p.Ala4199=)
c.12630G>A (p.Ala4210=)
c.4786G>A
c.12609G>A (p.Ala4203=)
c.2662G>A
c.12561G>A (p.Ala4187=)
n.3804G>A
c.12663G>A (p.Ala4221=)
c.12660G>A (p.Ala4220=)
c.12639G>A (p.Ala4213=)
c.12633G>A (p.Ala4211=)
c.12627G>A (p.Ala4209=)
c.12603G>A (p.Ala4201=)
c.12426G>A (p.Ala4142=)
c.12570G>A (p.Ala4190=)
c.12642G>A (p.Ala4214=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784321G>CCA424032037RYR2c.*3701G>C (n.*3701G>C)
c.12597G>C (p.Ala4199=)
c.12630G>C (p.Ala4210=)
c.4786G>C
c.12609G>C (p.Ala4203=)
c.2662G>C
c.12561G>C (p.Ala4187=)
n.3804G>C
c.12663G>C (p.Ala4221=)
c.12660G>C (p.Ala4220=)
c.12639G>C (p.Ala4213=)
c.12633G>C (p.Ala4211=)
c.12627G>C (p.Ala4209=)
c.12603G>C (p.Ala4201=)
c.12426G>C (p.Ala4142=)
c.12570G>C (p.Ala4190=)
c.12642G>C (p.Ala4214=)
1g.237784321G=CA1143896152RYR2c.*3701G= (n.*3701G=)
c.12597G= (p.Ala4199=)
c.12630G= (p.Ala4210=)
c.4786G=
c.12609G= (p.Ala4203=)
c.2662G=
c.12561G= (p.Ala4187=)
n.3804G=
c.12663G= (p.Ala4221=)
c.12660G= (p.Ala4220=)
c.12639G= (p.Ala4213=)
c.12633G= (p.Ala4211=)
c.12627G= (p.Ala4209=)
c.12603G= (p.Ala4201=)
c.12426G= (p.Ala4142=)
c.12570G= (p.Ala4190=)
c.12642G= (p.Ala4214=)
1g.237784321G>TCA085203RYR2c.*3701G>T (n.*3701G>T)
c.12597G>T (p.Ala4199=)
c.12630G>T (p.Ala4210=)
c.4786G>T
c.12609G>T (p.Ala4203=)
c.2662G>T
c.12561G>T (p.Ala4187=)
n.3804G>T
c.12663G>T (p.Ala4221=)
c.12660G>T (p.Ala4220=)
c.12639G>T (p.Ala4213=)
c.12633G>T (p.Ala4211=)
c.12627G>T (p.Ala4209=)
c.12603G>T (p.Ala4201=)
c.12426G>T (p.Ala4142=)
c.12570G>T (p.Ala4190=)
c.12642G>T (p.Ala4214=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237784322G>ACA345413740RYR2c.*3702G>A (n.*3702G>A)
c.12598G>A (p.Ala4200Thr)
c.12631G>A (p.Ala4211Thr)
c.4787G>A
c.12610G>A (p.Ala4204Thr)
c.2663G>A
c.12562G>A (p.Ala4188Thr)
n.3805G>A
c.12664G>A (p.Ala4222Thr)
c.12661G>A (p.Ala4221Thr)
c.12640G>A (p.Ala4214Thr)
c.12634G>A (p.Ala4212Thr)
c.12628G>A (p.Ala4210Thr)
c.12604G>A (p.Ala4202Thr)
c.12427G>A (p.Ala4143Thr)
c.12571G>A (p.Ala4191Thr)
c.12643G>A (p.Ala4215Thr)
1g.237784322G>CCA345413742RYR2c.*3702G>C (n.*3702G>C)
c.12598G>C (p.Ala4200Pro)
c.12631G>C (p.Ala4211Pro)
c.4787G>C
c.12610G>C (p.Ala4204Pro)
c.2663G>C
c.12562G>C (p.Ala4188Pro)
n.3805G>C
c.12664G>C (p.Ala4222Pro)
c.12661G>C (p.Ala4221Pro)
c.12640G>C (p.Ala4214Pro)
c.12634G>C (p.Ala4212Pro)
c.12628G>C (p.Ala4210Pro)
c.12604G>C (p.Ala4202Pro)
c.12427G>C (p.Ala4143Pro)
c.12571G>C (p.Ala4191Pro)
c.12643G>C (p.Ala4215Pro)
1g.237784322G>TCA345413741RYR2c.*3702G>T (n.*3702G>T)
c.12598G>T (p.Ala4200Ser)
c.12631G>T (p.Ala4211Ser)
c.4787G>T
c.12610G>T (p.Ala4204Ser)
c.2663G>T
c.12562G>T (p.Ala4188Ser)
n.3805G>T
c.12664G>T (p.Ala4222Ser)
c.12661G>T (p.Ala4221Ser)
c.12640G>T (p.Ala4214Ser)
c.12634G>T (p.Ala4212Ser)
c.12628G>T (p.Ala4210Ser)
c.12604G>T (p.Ala4202Ser)
c.12427G>T (p.Ala4143Ser)
c.12571G>T (p.Ala4191Ser)
c.12643G>T (p.Ala4215Ser)
1g.237784323C>ACA345413743RYR2c.*3703C>A (n.*3703C>A)
c.12599C>A (p.Ala4200Asp)
c.12632C>A (p.Ala4211Asp)
c.4788C>A
c.12611C>A (p.Ala4204Asp)
c.2664C>A
c.12563C>A (p.Ala4188Asp)
n.3806C>A
c.12665C>A (p.Ala4222Asp)
c.12662C>A (p.Ala4221Asp)
c.12641C>A (p.Ala4214Asp)
c.12635C>A (p.Ala4212Asp)
c.12629C>A (p.Ala4210Asp)
c.12605C>A (p.Ala4202Asp)
c.12428C>A (p.Ala4143Asp)
c.12572C>A (p.Ala4191Asp)
c.12644C>A (p.Ala4215Asp)
1g.237784323C=CA2487482474RYR2c.*3703C= (n.*3703C=)
c.12599C= (p.Ala4200=)
c.12632C= (p.Ala4211=)
c.4788C=
c.12611C= (p.Ala4204=)
c.2664C=
c.12563C= (p.Ala4188=)
n.3806C=
c.12665C= (p.Ala4222=)
c.12662C= (p.Ala4221=)
c.12641C= (p.Ala4214=)
c.12635C= (p.Ala4212=)
c.12629C= (p.Ala4210=)
c.12605C= (p.Ala4202=)
c.12428C= (p.Ala4143=)
c.12572C= (p.Ala4191=)
c.12644C= (p.Ala4215=)
1g.237784323C>GCA345413744RYR2c.*3703C>G (n.*3703C>G)
c.12599C>G (p.Ala4200Gly)
c.12632C>G (p.Ala4211Gly)
c.4788C>G
c.12611C>G (p.Ala4204Gly)
c.2664C>G
c.12563C>G (p.Ala4188Gly)
n.3806C>G
c.12665C>G (p.Ala4222Gly)
c.12662C>G (p.Ala4221Gly)
c.12641C>G (p.Ala4214Gly)
c.12635C>G (p.Ala4212Gly)
c.12629C>G (p.Ala4210Gly)
c.12605C>G (p.Ala4202Gly)
c.12428C>G (p.Ala4143Gly)
c.12572C>G (p.Ala4191Gly)
c.12644C>G (p.Ala4215Gly)
1g.237784323C>TCA007658RYR2c.*3703C>T (n.*3703C>T)
c.12599C>T (p.Ala4200Val)
c.12632C>T (p.Ala4211Val)
c.4788C>T
c.12611C>T (p.Ala4204Val)
c.2664C>T
c.12563C>T (p.Ala4188Val)
n.3806C>T
c.12665C>T (p.Ala4222Val)
c.12662C>T (p.Ala4221Val)
c.12641C>T (p.Ala4214Val)
c.12635C>T (p.Ala4212Val)
c.12629C>T (p.Ala4210Val)
c.12605C>T (p.Ala4202Val)
c.12428C>T (p.Ala4143Val)
c.12572C>T (p.Ala4191Val)
c.12644C>T (p.Ala4215Val)
 ClinVar dbSNP
1g.237784324T>ACA424032044RYR2c.*3704T>A (n.*3704T>A)
c.12600T>A (p.Ala4200=)
c.12633T>A (p.Ala4211=)
c.4789T>A
c.12612T>A (p.Ala4204=)
c.2665T>A
c.12564T>A (p.Ala4188=)
n.3807T>A
c.12666T>A (p.Ala4222=)
c.12663T>A (p.Ala4221=)
c.12642T>A (p.Ala4214=)
c.12636T>A (p.Ala4212=)
c.12630T>A (p.Ala4210=)
c.12606T>A (p.Ala4202=)
c.12429T>A (p.Ala4143=)
c.12573T>A (p.Ala4191=)
c.12645T>A (p.Ala4215=)
1g.237784324T>CCA424032047RYR2c.*3704T>C (n.*3704T>C)
c.12600T>C (p.Ala4200=)
c.12633T>C (p.Ala4211=)
c.4789T>C
c.12612T>C (p.Ala4204=)
c.2665T>C
c.12564T>C (p.Ala4188=)
n.3807T>C
c.12666T>C (p.Ala4222=)
c.12663T>C (p.Ala4221=)
c.12642T>C (p.Ala4214=)
c.12636T>C (p.Ala4212=)
c.12630T>C (p.Ala4210=)
c.12606T>C (p.Ala4202=)
c.12429T>C (p.Ala4143=)
c.12573T>C (p.Ala4191=)
c.12645T>C (p.Ala4215=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237784324T>GCA424032045RYR2c.*3704T>G (n.*3704T>G)
c.12600T>G (p.Ala4200=)
c.12633T>G (p.Ala4211=)
c.4789T>G
c.12612T>G (p.Ala4204=)
c.2665T>G
c.12564T>G (p.Ala4188=)
n.3807T>G
c.12666T>G (p.Ala4222=)
c.12663T>G (p.Ala4221=)
c.12642T>G (p.Ala4214=)
c.12636T>G (p.Ala4212=)
c.12630T>G (p.Ala4210=)
c.12606T>G (p.Ala4202=)
c.12429T>G (p.Ala4143=)
c.12573T>G (p.Ala4191=)
c.12645T>G (p.Ala4215=)
1g.237784324T=CA2487482475RYR2c.*3704T= (n.*3704T=)
c.12600T= (p.Ala4200=)
c.12633T= (p.Ala4211=)
c.4789T=
c.12612T= (p.Ala4204=)
c.2665T=
c.12564T= (p.Ala4188=)
n.3807T=
c.12666T= (p.Ala4222=)
c.12663T= (p.Ala4221=)
c.12642T= (p.Ala4214=)
c.12636T= (p.Ala4212=)
c.12630T= (p.Ala4210=)
c.12606T= (p.Ala4202=)
c.12429T= (p.Ala4143=)
c.12573T= (p.Ala4191=)
c.12645T= (p.Ala4215=)
1g.237784325C>ACA345413745RYR2c.*3705C>A (n.*3705C>A)
c.12601C>A (p.Gln4201Lys)
c.12634C>A (p.Gln4212Lys)
c.4790C>A
c.12613C>A (p.Gln4205Lys)
c.2666C>A
c.12565C>A (p.Gln4189Lys)
n.3808C>A
c.12667C>A (p.Gln4223Lys)
c.12664C>A (p.Gln4222Lys)
c.12643C>A (p.Gln4215Lys)
c.12637C>A (p.Gln4213Lys)
c.12631C>A (p.Gln4211Lys)
c.12607C>A (p.Gln4203Lys)
c.12430C>A (p.Gln4144Lys)
c.12574C>A (p.Gln4192Lys)
c.12646C>A (p.Gln4216Lys)
1g.237784325C>GCA345413746RYR2c.*3705C>G (n.*3705C>G)
c.12601C>G (p.Gln4201Glu)
c.12634C>G (p.Gln4212Glu)
c.4790C>G
c.12613C>G (p.Gln4205Glu)
c.2666C>G
c.12565C>G (p.Gln4189Glu)
n.3808C>G
c.12667C>G (p.Gln4223Glu)
c.12664C>G (p.Gln4222Glu)
c.12643C>G (p.Gln4215Glu)
c.12637C>G (p.Gln4213Glu)
c.12631C>G (p.Gln4211Glu)
c.12607C>G (p.Gln4203Glu)
c.12430C>G (p.Gln4144Glu)
c.12574C>G (p.Gln4192Glu)
c.12646C>G (p.Gln4216Glu)
1g.237784325C>TCA345413747RYR2c.*3705C>T (n.*3705C>T)
c.12601C>T (p.Gln4201Ter)
c.12634C>T (p.Gln4212Ter)
c.4790C>T
c.12613C>T (p.Gln4205Ter)
c.2666C>T
c.12565C>T (p.Gln4189Ter)
n.3808C>T
c.12667C>T (p.Gln4223Ter)
c.12664C>T (p.Gln4222Ter)
c.12643C>T (p.Gln4215Ter)
c.12637C>T (p.Gln4213Ter)
c.12631C>T (p.Gln4211Ter)
c.12607C>T (p.Gln4203Ter)
c.12430C>T (p.Gln4144Ter)
c.12574C>T (p.Gln4192Ter)
c.12646C>T (p.Gln4216Ter)
1g.237784326A>CCA345413748RYR2c.*3706A>C (n.*3706A>C)
c.12602A>C (p.Gln4201Pro)
c.12635A>C (p.Gln4212Pro)
c.4791A>C
c.12614A>C (p.Gln4205Pro)
c.2667A>C
c.12566A>C (p.Gln4189Pro)
n.3809A>C
c.12668A>C (p.Gln4223Pro)
c.12665A>C (p.Gln4222Pro)
c.12644A>C (p.Gln4215Pro)
c.12638A>C (p.Gln4213Pro)
c.12632A>C (p.Gln4211Pro)
c.12608A>C (p.Gln4203Pro)
c.12431A>C (p.Gln4144Pro)
c.12575A>C (p.Gln4192Pro)
c.12647A>C (p.Gln4216Pro)
1g.237784326A>GCA345413749RYR2c.*3706A>G (n.*3706A>G)
c.12602A>G (p.Gln4201Arg)
c.12635A>G (p.Gln4212Arg)
c.4791A>G
c.12614A>G (p.Gln4205Arg)
c.2667A>G
c.12566A>G (p.Gln4189Arg)
n.3809A>G
c.12668A>G (p.Gln4223Arg)
c.12665A>G (p.Gln4222Arg)
c.12644A>G (p.Gln4215Arg)
c.12638A>G (p.Gln4213Arg)
c.12632A>G (p.Gln4211Arg)
c.12608A>G (p.Gln4203Arg)
c.12431A>G (p.Gln4144Arg)
c.12575A>G (p.Gln4192Arg)
c.12647A>G (p.Gln4216Arg)
 ClinVar
1g.237784326A>TCA345413750RYR2c.*3706A>T (n.*3706A>T)
c.12602A>T (p.Gln4201Leu)
c.12635A>T (p.Gln4212Leu)
c.4791A>T
c.12614A>T (p.Gln4205Leu)
c.2667A>T
c.12566A>T (p.Gln4189Leu)
n.3809A>T
c.12668A>T (p.Gln4223Leu)
c.12665A>T (p.Gln4222Leu)
c.12644A>T (p.Gln4215Leu)
c.12638A>T (p.Gln4213Leu)
c.12632A>T (p.Gln4211Leu)
c.12608A>T (p.Gln4203Leu)
c.12431A>T (p.Gln4144Leu)
c.12575A>T (p.Gln4192Leu)
c.12647A>T (p.Gln4216Leu)
1g.237784327G>ACA424032054RYR2c.*3707G>A (n.*3707G>A)
c.12603G>A (p.Gln4201=)
c.12636G>A (p.Gln4212=)
c.4792G>A
c.12615G>A (p.Gln4205=)
c.2668G>A
c.12567G>A (p.Gln4189=)
n.3810G>A
c.12669G>A (p.Gln4223=)
c.12666G>A (p.Gln4222=)
c.12645G>A (p.Gln4215=)
c.12639G>A (p.Gln4213=)
c.12633G>A (p.Gln4211=)
c.12609G>A (p.Gln4203=)
c.12432G>A (p.Gln4144=)
c.12576G>A (p.Gln4192=)
c.12648G>A (p.Gln4216=)
 COSMIC COSMIC
1g.237784327G>CCA345413751RYR2c.*3707G>C (n.*3707G>C)
c.12603G>C (p.Gln4201His)
c.12636G>C (p.Gln4212His)
c.4792G>C
c.12615G>C (p.Gln4205His)
c.2668G>C
c.12567G>C (p.Gln4189His)
n.3810G>C
c.12669G>C (p.Gln4223His)
c.12666G>C (p.Gln4222His)
c.12645G>C (p.Gln4215His)
c.12639G>C (p.Gln4213His)
c.12633G>C (p.Gln4211His)
c.12609G>C (p.Gln4203His)
c.12432G>C (p.Gln4144His)
c.12576G>C (p.Gln4192His)
c.12648G>C (p.Gln4216His)
 gnomAD v4
1g.237784327G>TCA345413752RYR2c.*3707G>T (n.*3707G>T)
c.12603G>T (p.Gln4201His)
c.12636G>T (p.Gln4212His)
c.4792G>T
c.12615G>T (p.Gln4205His)
c.2668G>T
c.12567G>T (p.Gln4189His)
n.3810G>T
c.12669G>T (p.Gln4223His)
c.12666G>T (p.Gln4222His)
c.12645G>T (p.Gln4215His)
c.12639G>T (p.Gln4213His)
c.12633G>T (p.Gln4211His)
c.12609G>T (p.Gln4203His)
c.12432G>T (p.Gln4144His)
c.12576G>T (p.Gln4192His)
c.12648G>T (p.Gln4216His)
1g.237784328A>CCA345413755RYR2c.*3708A>C (n.*3708A>C)
c.12604A>C (p.Ile4202Leu)
c.12637A>C (p.Ile4213Leu)
c.4793A>C
c.12616A>C (p.Ile4206Leu)
c.2669A>C
c.12568A>C (p.Ile4190Leu)
n.3811A>C
c.12670A>C (p.Ile4224Leu)
c.12667A>C (p.Ile4223Leu)
c.12646A>C (p.Ile4216Leu)
c.12640A>C (p.Ile4214Leu)
c.12634A>C (p.Ile4212Leu)
c.12610A>C (p.Ile4204Leu)
c.12433A>C (p.Ile4145Leu)
c.12577A>C (p.Ile4193Leu)
c.12649A>C (p.Ile4217Leu)
1g.237784328A>GCA345413754RYR2c.*3708A>G (n.*3708A>G)
c.12604A>G (p.Ile4202Val)
c.12637A>G (p.Ile4213Val)
c.4793A>G
c.12616A>G (p.Ile4206Val)
c.2669A>G
c.12568A>G (p.Ile4190Val)
n.3811A>G
c.12670A>G (p.Ile4224Val)
c.12667A>G (p.Ile4223Val)
c.12646A>G (p.Ile4216Val)
c.12640A>G (p.Ile4214Val)
c.12634A>G (p.Ile4212Val)
c.12610A>G (p.Ile4204Val)
c.12433A>G (p.Ile4145Val)
c.12577A>G (p.Ile4193Val)
c.12649A>G (p.Ile4217Val)
1g.237784328A>TCA345413753RYR2c.*3708A>T (n.*3708A>T)
c.12604A>T (p.Ile4202Phe)
c.12637A>T (p.Ile4213Phe)
c.4793A>T
c.12616A>T (p.Ile4206Phe)
c.2669A>T
c.12568A>T (p.Ile4190Phe)
n.3811A>T
c.12670A>T (p.Ile4224Phe)
c.12667A>T (p.Ile4223Phe)
c.12646A>T (p.Ile4216Phe)
c.12640A>T (p.Ile4214Phe)
c.12634A>T (p.Ile4212Phe)
c.12610A>T (p.Ile4204Phe)
c.12433A>T (p.Ile4145Phe)
c.12577A>T (p.Ile4193Phe)
c.12649A>T (p.Ile4217Phe)
1g.237784329T>ACA345413756RYR2c.*3709T>A (n.*3709T>A)
c.12605T>A (p.Ile4202Asn)
c.12638T>A (p.Ile4213Asn)
c.4794T>A
c.12617T>A (p.Ile4206Asn)
c.2670T>A
c.12569T>A (p.Ile4190Asn)
n.3812T>A
c.12671T>A (p.Ile4224Asn)
c.12668T>A (p.Ile4223Asn)
c.12647T>A (p.Ile4216Asn)
c.12641T>A (p.Ile4214Asn)
c.12635T>A (p.Ile4212Asn)
c.12611T>A (p.Ile4204Asn)
c.12434T>A (p.Ile4145Asn)
c.12578T>A (p.Ile4193Asn)
c.12650T>A (p.Ile4217Asn)
 gnomAD v4
1g.237784329T>CCA345413757RYR2c.*3709T>C (n.*3709T>C)
c.12605T>C (p.Ile4202Thr)
c.12638T>C (p.Ile4213Thr)
c.4794T>C
c.12617T>C (p.Ile4206Thr)
c.2670T>C
c.12569T>C (p.Ile4190Thr)
n.3812T>C
c.12671T>C (p.Ile4224Thr)
c.12668T>C (p.Ile4223Thr)
c.12647T>C (p.Ile4216Thr)
c.12641T>C (p.Ile4214Thr)
c.12635T>C (p.Ile4212Thr)
c.12611T>C (p.Ile4204Thr)
c.12434T>C (p.Ile4145Thr)
c.12578T>C (p.Ile4193Thr)
c.12650T>C (p.Ile4217Thr)
1g.237784329T>GCA345413758RYR2c.*3709T>G (n.*3709T>G)
c.12605T>G (p.Ile4202Ser)
c.12638T>G (p.Ile4213Ser)
c.4794T>G
c.12617T>G (p.Ile4206Ser)
c.2670T>G
c.12569T>G (p.Ile4190Ser)
n.3812T>G
c.12671T>G (p.Ile4224Ser)
c.12668T>G (p.Ile4223Ser)
c.12647T>G (p.Ile4216Ser)
c.12641T>G (p.Ile4214Ser)
c.12635T>G (p.Ile4212Ser)
c.12611T>G (p.Ile4204Ser)
c.12434T>G (p.Ile4145Ser)
c.12578T>G (p.Ile4193Ser)
c.12650T>G (p.Ile4217Ser)
1g.237784329_237784331delCA2573051535RYR2c.*3709_*3711del (n.*3709_*3711del)
c.12605_12607del (p.Ile4202_Ser4203delinsThr)
c.12638_12640del (p.Ile4213_Ser4214delinsThr)
c.4794_4796del
c.12617_12619del (p.Ile4206_Ser4207delinsThr)
c.2670_2672del
c.12569_12571del (p.Ile4190_Ser4191delinsThr)
n.3812_3814del
c.12671_12673del (p.Ile4224_Ser4225delinsThr)
c.12668_12670del (p.Ile4223_Ser4224delinsThr)
c.12647_12649del (p.Ile4216_Ser4217delinsThr)
c.12641_12643del (p.Ile4214_Ser4215delinsThr)
c.12635_12637del (p.Ile4212_Ser4213delinsThr)
c.12611_12613del (p.Ile4204_Ser4205delinsThr)
c.12434_12436del (p.Ile4145_Ser4146delinsThr)
c.12578_12580del (p.Ile4193_Ser4194delinsThr)
c.12650_12652del (p.Ile4217_Ser4218delinsThr)
 ClinVar dbSNP
1g.237784330C>ACA424032062RYR2c.*3710C>A (n.*3710C>A)
c.12606C>A (p.Ile4202=)
c.12639C>A (p.Ile4213=)
c.4795C>A
c.12618C>A (p.Ile4206=)
c.2671C>A
c.12570C>A (p.Ile4190=)
n.3813C>A
c.12672C>A (p.Ile4224=)
c.12669C>A (p.Ile4223=)
c.12648C>A (p.Ile4216=)
c.12642C>A (p.Ile4214=)
c.12636C>A (p.Ile4212=)
c.12612C>A (p.Ile4204=)
c.12435C>A (p.Ile4145=)
c.12579C>A (p.Ile4193=)
c.12651C>A (p.Ile4217=)
1g.237784330C>GCA345413759RYR2c.*3710C>G (n.*3710C>G)
c.12606C>G (p.Ile4202Met)
c.12639C>G (p.Ile4213Met)
c.4795C>G
c.12618C>G (p.Ile4206Met)
c.2671C>G
c.12570C>G (p.Ile4190Met)
n.3813C>G
c.12672C>G (p.Ile4224Met)
c.12669C>G (p.Ile4223Met)
c.12648C>G (p.Ile4216Met)
c.12642C>G (p.Ile4214Met)
c.12636C>G (p.Ile4212Met)
c.12612C>G (p.Ile4204Met)
c.12435C>G (p.Ile4145Met)
c.12579C>G (p.Ile4193Met)
c.12651C>G (p.Ile4217Met)
1g.237784330C>TCA424032064RYR2c.*3710C>T (n.*3710C>T)
c.12606C>T (p.Ile4202=)
c.12639C>T (p.Ile4213=)
c.4795C>T
c.12618C>T (p.Ile4206=)
c.2671C>T
c.12570C>T (p.Ile4190=)
n.3813C>T
c.12672C>T (p.Ile4224=)
c.12669C>T (p.Ile4223=)
c.12648C>T (p.Ile4216=)
c.12642C>T (p.Ile4214=)
c.12636C>T (p.Ile4212=)
c.12612C>T (p.Ile4204=)
c.12435C>T (p.Ile4145=)
c.12579C>T (p.Ile4193=)
c.12651C>T (p.Ile4217=)
1g.237784331T>ACA345413760RYR2c.*3711T>A (n.*3711T>A)
c.12607T>A (p.Ser4203Thr)
c.12640T>A (p.Ser4214Thr)
c.4796T>A
c.12619T>A (p.Ser4207Thr)
c.2672T>A
c.12571T>A (p.Ser4191Thr)
n.3814T>A
c.12673T>A (p.Ser4225Thr)
c.12670T>A (p.Ser4224Thr)
c.12649T>A (p.Ser4217Thr)
c.12643T>A (p.Ser4215Thr)
c.12637T>A (p.Ser4213Thr)
c.12613T>A (p.Ser4205Thr)
c.12436T>A (p.Ser4146Thr)
c.12580T>A (p.Ser4194Thr)
c.12652T>A (p.Ser4218Thr)
1g.237784331T>CCA345413761RYR2c.*3711T>C (n.*3711T>C)
c.12607T>C (p.Ser4203Pro)
c.12640T>C (p.Ser4214Pro)
c.4796T>C
c.12619T>C (p.Ser4207Pro)
c.2672T>C
c.12571T>C (p.Ser4191Pro)
n.3814T>C
c.12673T>C (p.Ser4225Pro)
c.12670T>C (p.Ser4224Pro)
c.12649T>C (p.Ser4217Pro)
c.12643T>C (p.Ser4215Pro)
c.12637T>C (p.Ser4213Pro)
c.12613T>C (p.Ser4205Pro)
c.12436T>C (p.Ser4146Pro)
c.12580T>C (p.Ser4194Pro)
c.12652T>C (p.Ser4218Pro)
1g.237784331T>GCA345413762RYR2c.*3711T>G (n.*3711T>G)
c.12607T>G (p.Ser4203Ala)
c.12640T>G (p.Ser4214Ala)
c.4796T>G
c.12619T>G (p.Ser4207Ala)
c.2672T>G
c.12571T>G (p.Ser4191Ala)
n.3814T>G
c.12673T>G (p.Ser4225Ala)
c.12670T>G (p.Ser4224Ala)
c.12649T>G (p.Ser4217Ala)
c.12643T>G (p.Ser4215Ala)
c.12637T>G (p.Ser4213Ala)
c.12613T>G (p.Ser4205Ala)
c.12436T>G (p.Ser4146Ala)
c.12580T>G (p.Ser4194Ala)
c.12652T>G (p.Ser4218Ala)
1g.237784332C>ACA345413763RYR2c.*3712C>A (n.*3712C>A)
c.12608C>A (p.Ser4203Ter)
c.12641C>A (p.Ser4214Ter)
c.4797C>A
c.12620C>A (p.Ser4207Ter)
c.2673C>A
c.12572C>A (p.Ser4191Ter)
n.3815C>A
c.12674C>A (p.Ser4225Ter)
c.12671C>A (p.Ser4224Ter)
c.12650C>A (p.Ser4217Ter)
c.12644C>A (p.Ser4215Ter)
c.12638C>A (p.Ser4213Ter)
c.12614C>A (p.Ser4205Ter)
c.12437C>A (p.Ser4146Ter)
c.12581C>A (p.Ser4194Ter)
c.12653C>A (p.Ser4218Ter)
 ClinVar dbSNP
1g.237784332C>GCA345413764RYR2c.*3712C>G (n.*3712C>G)
c.12608C>G (p.Ser4203Trp)
c.12641C>G (p.Ser4214Trp)
c.4797C>G
c.12620C>G (p.Ser4207Trp)
c.2673C>G
c.12572C>G (p.Ser4191Trp)
n.3815C>G
c.12674C>G (p.Ser4225Trp)
c.12671C>G (p.Ser4224Trp)
c.12650C>G (p.Ser4217Trp)
c.12644C>G (p.Ser4215Trp)
c.12638C>G (p.Ser4213Trp)
c.12614C>G (p.Ser4205Trp)
c.12437C>G (p.Ser4146Trp)
c.12581C>G (p.Ser4194Trp)
c.12653C>G (p.Ser4218Trp)
1g.237784332C>TCA345413765RYR2c.*3712C>T (n.*3712C>T)
c.12608C>T (p.Ser4203Leu)
c.12641C>T (p.Ser4214Leu)
c.4797C>T
c.12620C>T (p.Ser4207Leu)
c.2673C>T
c.12572C>T (p.Ser4191Leu)
n.3815C>T
c.12674C>T (p.Ser4225Leu)
c.12671C>T (p.Ser4224Leu)
c.12650C>T (p.Ser4217Leu)
c.12644C>T (p.Ser4215Leu)
c.12638C>T (p.Ser4213Leu)
c.12614C>T (p.Ser4205Leu)
c.12437C>T (p.Ser4146Leu)
c.12581C>T (p.Ser4194Leu)
c.12653C>T (p.Ser4218Leu)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
1g.237784333G>ACA066530RYR2c.*3713G>A (n.*3713G>A)
c.12609G>A (p.Ser4203=)
c.12642G>A (p.Ser4214=)
c.4798G>A
c.12621G>A (p.Ser4207=)
c.2674G>A
c.12573G>A (p.Ser4191=)
n.3816G>A
c.12675G>A (p.Ser4225=)
c.12672G>A (p.Ser4224=)
c.12651G>A (p.Ser4217=)
c.12645G>A (p.Ser4215=)
c.12639G>A (p.Ser4213=)
c.12615G>A (p.Ser4205=)
c.12438G>A (p.Ser4146=)
c.12582G>A (p.Ser4194=)
c.12654G>A (p.Ser4218=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237784333G>CCA424032071RYR2c.*3713G>C (n.*3713G>C)
c.12609G>C (p.Ser4203=)
c.12642G>C (p.Ser4214=)
c.4798G>C
c.12621G>C (p.Ser4207=)
c.2674G>C
c.12573G>C (p.Ser4191=)
n.3816G>C
c.12675G>C (p.Ser4225=)
c.12672G>C (p.Ser4224=)
c.12651G>C (p.Ser4217=)
c.12645G>C (p.Ser4215=)
c.12639G>C (p.Ser4213=)
c.12615G>C (p.Ser4205=)
c.12438G>C (p.Ser4146=)
c.12582G>C (p.Ser4194=)
c.12654G>C (p.Ser4218=)
1g.237784333G=CA2487482476RYR2c.*3713G= (n.*3713G=)
c.12609G= (p.Ser4203=)
c.12642G= (p.Ser4214=)
c.4798G=
c.12621G= (p.Ser4207=)
c.2674G=
c.12573G= (p.Ser4191=)
n.3816G=
c.12675G= (p.Ser4225=)
c.12672G= (p.Ser4224=)
c.12651G= (p.Ser4217=)
c.12645G= (p.Ser4215=)
c.12639G= (p.Ser4213=)
c.12615G= (p.Ser4205=)
c.12438G= (p.Ser4146=)
c.12582G= (p.Ser4194=)
c.12654G= (p.Ser4218=)
1g.237784333G>TCA424032074RYR2c.*3713G>T (n.*3713G>T)
c.12609G>T (p.Ser4203=)
c.12642G>T (p.Ser4214=)
c.4798G>T
c.12621G>T (p.Ser4207=)
c.2674G>T
c.12573G>T (p.Ser4191=)
n.3816G>T
c.12675G>T (p.Ser4225=)
c.12672G>T (p.Ser4224=)
c.12651G>T (p.Ser4217=)
c.12645G>T (p.Ser4215=)
c.12639G>T (p.Ser4213=)
c.12615G>T (p.Ser4205=)
c.12438G>T (p.Ser4146=)
c.12582G>T (p.Ser4194=)
c.12654G>T (p.Ser4218=)
1g.237784334G>ACA345413766RYR2c.*3714G>A (n.*3714G>A)
c.12610G>A (p.Glu4204Lys)
c.12643G>A (p.Glu4215Lys)
c.4799G>A
c.12622G>A (p.Glu4208Lys)
c.2675G>A
c.12574G>A (p.Glu4192Lys)
n.3817G>A
c.12676G>A (p.Glu4226Lys)
c.12673G>A (p.Glu4225Lys)
c.12652G>A (p.Glu4218Lys)
c.12646G>A (p.Glu4216Lys)
c.12640G>A (p.Glu4214Lys)
c.12616G>A (p.Glu4206Lys)
c.12439G>A (p.Glu4147Lys)
c.12583G>A (p.Glu4195Lys)
c.12655G>A (p.Glu4219Lys)
 COSMIC COSMIC
1g.237784334G>CCA345413767RYR2c.*3714G>C (n.*3714G>C)
c.12610G>C (p.Glu4204Gln)
c.12643G>C (p.Glu4215Gln)
c.4799G>C
c.12622G>C (p.Glu4208Gln)
c.2675G>C
c.12574G>C (p.Glu4192Gln)
n.3817G>C
c.12676G>C (p.Glu4226Gln)
c.12673G>C (p.Glu4225Gln)
c.12652G>C (p.Glu4218Gln)
c.12646G>C (p.Glu4216Gln)
c.12640G>C (p.Glu4214Gln)
c.12616G>C (p.Glu4206Gln)
c.12439G>C (p.Glu4147Gln)
c.12583G>C (p.Glu4195Gln)
c.12655G>C (p.Glu4219Gln)
1g.237784334G>TCA345413768RYR2c.*3714G>T (n.*3714G>T)
c.12610G>T (p.Glu4204Ter)
c.12643G>T (p.Glu4215Ter)
c.4799G>T
c.12622G>T (p.Glu4208Ter)
c.2675G>T
c.12574G>T (p.Glu4192Ter)
n.3817G>T
c.12676G>T (p.Glu4226Ter)
c.12673G>T (p.Glu4225Ter)
c.12652G>T (p.Glu4218Ter)
c.12646G>T (p.Glu4216Ter)
c.12640G>T (p.Glu4214Ter)
c.12616G>T (p.Glu4206Ter)
c.12439G>T (p.Glu4147Ter)
c.12583G>T (p.Glu4195Ter)
c.12655G>T (p.Glu4219Ter)
 COSMIC COSMIC
1g.237784335A=CA2487482477RYR2c.*3715A= (n.*3715A=)
c.12611A= (p.Glu4204=)
c.12644A= (p.Glu4215=)
c.4800A=
c.12623A= (p.Glu4208=)
c.2676A=
c.12575A= (p.Glu4192=)
n.3818A=
c.12677A= (p.Glu4226=)
c.12674A= (p.Glu4225=)
c.12653A= (p.Glu4218=)
c.12647A= (p.Glu4216=)
c.12641A= (p.Glu4214=)
c.12617A= (p.Glu4206=)
c.12440A= (p.Glu4147=)
c.12584A= (p.Glu4195=)
c.12656A= (p.Glu4219=)
1g.237784335A>CCA345413770RYR2c.*3715A>C (n.*3715A>C)
c.12611A>C (p.Glu4204Ala)
c.12644A>C (p.Glu4215Ala)
c.4800A>C
c.12623A>C (p.Glu4208Ala)
c.2676A>C
c.12575A>C (p.Glu4192Ala)
n.3818A>C
c.12677A>C (p.Glu4226Ala)
c.12674A>C (p.Glu4225Ala)
c.12653A>C (p.Glu4218Ala)
c.12647A>C (p.Glu4216Ala)
c.12641A>C (p.Glu4214Ala)
c.12617A>C (p.Glu4206Ala)
c.12440A>C (p.Glu4147Ala)
c.12584A>C (p.Glu4195Ala)
c.12656A>C (p.Glu4219Ala)
1g.237784335A>GCA345413771RYR2c.*3715A>G (n.*3715A>G)
c.12611A>G (p.Glu4204Gly)
c.12644A>G (p.Glu4215Gly)
c.4800A>G
c.12623A>G (p.Glu4208Gly)
c.2676A>G
c.12575A>G (p.Glu4192Gly)
n.3818A>G
c.12677A>G (p.Glu4226Gly)
c.12674A>G (p.Glu4225Gly)
c.12653A>G (p.Glu4218Gly)
c.12647A>G (p.Glu4216Gly)
c.12641A>G (p.Glu4214Gly)
c.12617A>G (p.Glu4206Gly)
c.12440A>G (p.Glu4147Gly)
c.12584A>G (p.Glu4195Gly)
c.12656A>G (p.Glu4219Gly)
 ClinVar dbSNP
1g.237784335A>TCA345413769RYR2c.*3715A>T (n.*3715A>T)
c.12611A>T (p.Glu4204Val)
c.12644A>T (p.Glu4215Val)
c.4800A>T
c.12623A>T (p.Glu4208Val)
c.2676A>T
c.12575A>T (p.Glu4192Val)
n.3818A>T
c.12677A>T (p.Glu4226Val)
c.12674A>T (p.Glu4225Val)
c.12653A>T (p.Glu4218Val)
c.12647A>T (p.Glu4216Val)
c.12641A>T (p.Glu4214Val)
c.12617A>T (p.Glu4206Val)
c.12440A>T (p.Glu4147Val)
c.12584A>T (p.Glu4195Val)
c.12656A>T (p.Glu4219Val)
1g.237784336G>ACA424032081RYR2c.*3716G>A (n.*3716G>A)
c.12612G>A (p.Glu4204=)
c.12645G>A (p.Glu4215=)
c.4801G>A
c.12624G>A (p.Glu4208=)
c.2677G>A
c.12576G>A (p.Glu4192=)
n.3819G>A
c.12678G>A (p.Glu4226=)
c.12675G>A (p.Glu4225=)
c.12654G>A (p.Glu4218=)
c.12648G>A (p.Glu4216=)
c.12642G>A (p.Glu4214=)
c.12618G>A (p.Glu4206=)
c.12441G>A (p.Glu4147=)
c.12585G>A (p.Glu4195=)
c.12657G>A (p.Glu4219=)
 ClinVar dbSNP
1g.237784336G>CCA345413773RYR2c.*3716G>C (n.*3716G>C)
c.12612G>C (p.Glu4204Asp)
c.12645G>C (p.Glu4215Asp)
c.4801G>C
c.12624G>C (p.Glu4208Asp)
c.2677G>C
c.12576G>C (p.Glu4192Asp)
n.3819G>C
c.12678G>C (p.Glu4226Asp)
c.12675G>C (p.Glu4225Asp)
c.12654G>C (p.Glu4218Asp)
c.12648G>C (p.Glu4216Asp)
c.12642G>C (p.Glu4214Asp)
c.12618G>C (p.Glu4206Asp)
c.12441G>C (p.Glu4147Asp)
c.12585G>C (p.Glu4195Asp)
c.12657G>C (p.Glu4219Asp)
1g.237784336G=CA2487482478RYR2c.*3716G= (n.*3716G=)
c.12612G= (p.Glu4204=)
c.12645G= (p.Glu4215=)
c.4801G=
c.12624G= (p.Glu4208=)
c.2677G=
c.12576G= (p.Glu4192=)
n.3819G=
c.12678G= (p.Glu4226=)
c.12675G= (p.Glu4225=)
c.12654G= (p.Glu4218=)
c.12648G= (p.Glu4216=)
c.12642G= (p.Glu4214=)
c.12618G= (p.Glu4206=)
c.12441G= (p.Glu4147=)
c.12585G= (p.Glu4195=)
c.12657G= (p.Glu4219=)
1g.237784336G>TCA345413772RYR2c.*3716G>T (n.*3716G>T)
c.12612G>T (p.Glu4204Asp)
c.12645G>T (p.Glu4215Asp)
c.4801G>T
c.12624G>T (p.Glu4208Asp)
c.2677G>T
c.12576G>T (p.Glu4192Asp)
n.3819G>T
c.12678G>T (p.Glu4226Asp)
c.12675G>T (p.Glu4225Asp)
c.12654G>T (p.Glu4218Asp)
c.12648G>T (p.Glu4216Asp)
c.12642G>T (p.Glu4214Asp)
c.12618G>T (p.Glu4206Asp)
c.12441G>T (p.Glu4147Asp)
c.12585G>T (p.Glu4195Asp)
c.12657G>T (p.Glu4219Asp)

Number of alleles fetched