Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.237784050C>ACA345413001RYR2c.*3430C>A (n.*3430C>A)
c.12326C>A (p.Thr4109Asn)
c.12359C>A (p.Thr4120Asn)
c.4515C>A
c.12338C>A (p.Thr4113Asn)
c.2391C>A
c.12290C>A (p.Thr4097Asn)
n.3533C>A
c.12392C>A (p.Thr4131Asn)
c.12389C>A (p.Thr4130Asn)
c.12368C>A (p.Thr4123Asn)
c.12362C>A (p.Thr4121Asn)
c.12356C>A (p.Thr4119Asn)
c.12332C>A (p.Thr4111Asn)
c.12155C>A (p.Thr4052Asn)
c.12299C>A (p.Thr4100Asn)
c.12371C>A (p.Thr4124Asn)
1g.237784050C>GCA345413002RYR2c.*3430C>G (n.*3430C>G)
c.12326C>G (p.Thr4109Ser)
c.12359C>G (p.Thr4120Ser)
c.4515C>G
c.12338C>G (p.Thr4113Ser)
c.2391C>G
c.12290C>G (p.Thr4097Ser)
n.3533C>G
c.12392C>G (p.Thr4131Ser)
c.12389C>G (p.Thr4130Ser)
c.12368C>G (p.Thr4123Ser)
c.12362C>G (p.Thr4121Ser)
c.12356C>G (p.Thr4119Ser)
c.12332C>G (p.Thr4111Ser)
c.12155C>G (p.Thr4052Ser)
c.12299C>G (p.Thr4100Ser)
c.12371C>G (p.Thr4124Ser)
1g.237784050C>TCA345413003RYR2c.*3430C>T (n.*3430C>T)
c.12326C>T (p.Thr4109Ile)
c.12359C>T (p.Thr4120Ile)
c.4515C>T
c.12338C>T (p.Thr4113Ile)
c.2391C>T
c.12290C>T (p.Thr4097Ile)
n.3533C>T
c.12392C>T (p.Thr4131Ile)
c.12389C>T (p.Thr4130Ile)
c.12368C>T (p.Thr4123Ile)
c.12362C>T (p.Thr4121Ile)
c.12356C>T (p.Thr4119Ile)
c.12332C>T (p.Thr4111Ile)
c.12155C>T (p.Thr4052Ile)
c.12299C>T (p.Thr4100Ile)
c.12371C>T (p.Thr4124Ile)
1g.237784051C>ACA424032168RYR2c.*3431C>A (n.*3431C>A)
c.12327C>A (p.Thr4109=)
c.12360C>A (p.Thr4120=)
c.4516C>A
c.12339C>A (p.Thr4113=)
c.2392C>A
c.12291C>A (p.Thr4097=)
n.3534C>A
c.12393C>A (p.Thr4131=)
c.12390C>A (p.Thr4130=)
c.12369C>A (p.Thr4123=)
c.12363C>A (p.Thr4121=)
c.12357C>A (p.Thr4119=)
c.12333C>A (p.Thr4111=)
c.12156C>A (p.Thr4052=)
c.12300C>A (p.Thr4100=)
c.12372C>A (p.Thr4124=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237784051C=CA2487482367RYR2c.*3431C= (n.*3431C=)
c.12327C= (p.Thr4109=)
c.12360C= (p.Thr4120=)
c.4516C=
c.12339C= (p.Thr4113=)
c.2392C=
c.12291C= (p.Thr4097=)
n.3534C=
c.12393C= (p.Thr4131=)
c.12390C= (p.Thr4130=)
c.12369C= (p.Thr4123=)
c.12363C= (p.Thr4121=)
c.12357C= (p.Thr4119=)
c.12333C= (p.Thr4111=)
c.12156C= (p.Thr4052=)
c.12300C= (p.Thr4100=)
c.12372C= (p.Thr4124=)
1g.237784051C>GCA424032167RYR2c.*3431C>G (n.*3431C>G)
c.12327C>G (p.Thr4109=)
c.12360C>G (p.Thr4120=)
c.4516C>G
c.12339C>G (p.Thr4113=)
c.2392C>G
c.12291C>G (p.Thr4097=)
n.3534C>G
c.12393C>G (p.Thr4131=)
c.12390C>G (p.Thr4130=)
c.12369C>G (p.Thr4123=)
c.12363C>G (p.Thr4121=)
c.12357C>G (p.Thr4119=)
c.12333C>G (p.Thr4111=)
c.12156C>G (p.Thr4052=)
c.12300C>G (p.Thr4100=)
c.12372C>G (p.Thr4124=)
1g.237784051C>TCA424032166RYR2c.*3431C>T (n.*3431C>T)
c.12327C>T (p.Thr4109=)
c.12360C>T (p.Thr4120=)
c.4516C>T
c.12339C>T (p.Thr4113=)
c.2392C>T
c.12291C>T (p.Thr4097=)
n.3534C>T
c.12393C>T (p.Thr4131=)
c.12390C>T (p.Thr4130=)
c.12369C>T (p.Thr4123=)
c.12363C>T (p.Thr4121=)
c.12357C>T (p.Thr4119=)
c.12333C>T (p.Thr4111=)
c.12156C>T (p.Thr4052=)
c.12300C>T (p.Thr4100=)
c.12372C>T (p.Thr4124=)
 gnomAD v4
1g.237784052C>ACA424032169RYR2c.*3432C>A (n.*3432C>A)
c.12328C>A (p.Arg4110=)
c.12361C>A (p.Arg4121=)
c.4517C>A
c.12340C>A (p.Arg4114=)
c.2393C>A
c.12292C>A (p.Arg4098=)
n.3535C>A
c.12394C>A (p.Arg4132=)
c.12391C>A (p.Arg4131=)
c.12370C>A (p.Arg4124=)
c.12364C>A (p.Arg4122=)
c.12358C>A (p.Arg4120=)
c.12334C>A (p.Arg4112=)
c.12157C>A (p.Arg4053=)
c.12301C>A (p.Arg4101=)
c.12373C>A (p.Arg4125=)
1g.237784052C=CA2487482368RYR2c.*3432C= (n.*3432C=)
c.12328C= (p.Arg4110=)
c.12361C= (p.Arg4121=)
c.4517C=
c.12340C= (p.Arg4114=)
c.2393C=
c.12292C= (p.Arg4098=)
n.3535C=
c.12394C= (p.Arg4132=)
c.12391C= (p.Arg4131=)
c.12370C= (p.Arg4124=)
c.12364C= (p.Arg4122=)
c.12358C= (p.Arg4120=)
c.12334C= (p.Arg4112=)
c.12157C= (p.Arg4053=)
c.12301C= (p.Arg4101=)
c.12373C= (p.Arg4125=)
1g.237784052C>GCA345413004RYR2c.*3432C>G (n.*3432C>G)
c.12328C>G (p.Arg4110Gly)
c.12361C>G (p.Arg4121Gly)
c.4517C>G
c.12340C>G (p.Arg4114Gly)
c.2393C>G
c.12292C>G (p.Arg4098Gly)
n.3535C>G
c.12394C>G (p.Arg4132Gly)
c.12391C>G (p.Arg4131Gly)
c.12370C>G (p.Arg4124Gly)
c.12364C>G (p.Arg4122Gly)
c.12358C>G (p.Arg4120Gly)
c.12334C>G (p.Arg4112Gly)
c.12157C>G (p.Arg4053Gly)
c.12301C>G (p.Arg4101Gly)
c.12373C>G (p.Arg4125Gly)
 ClinVar
1g.237784052C>TCA345413005RYR2c.*3432C>T (n.*3432C>T)
c.12328C>T (p.Arg4110Ter)
c.12361C>T (p.Arg4121Ter)
c.4517C>T
c.12340C>T (p.Arg4114Ter)
c.2393C>T
c.12292C>T (p.Arg4098Ter)
n.3535C>T
c.12394C>T (p.Arg4132Ter)
c.12391C>T (p.Arg4131Ter)
c.12370C>T (p.Arg4124Ter)
c.12364C>T (p.Arg4122Ter)
c.12358C>T (p.Arg4120Ter)
c.12334C>T (p.Arg4112Ter)
c.12157C>T (p.Arg4053Ter)
c.12301C>T (p.Arg4101Ter)
c.12373C>T (p.Arg4125Ter)
 ClinVar dbSNP gnomAD v2
1g.237784053G>ACA345413006RYR2c.*3433G>A (n.*3433G>A)
c.12329G>A (p.Arg4110Gln)
c.12362G>A (p.Arg4121Gln)
c.4518G>A
c.12341G>A (p.Arg4114Gln)
c.2394G>A
c.12293G>A (p.Arg4098Gln)
n.3536G>A
c.12395G>A (p.Arg4132Gln)
c.12392G>A (p.Arg4131Gln)
c.12371G>A (p.Arg4124Gln)
c.12365G>A (p.Arg4122Gln)
c.12359G>A (p.Arg4120Gln)
c.12335G>A (p.Arg4112Gln)
c.12158G>A (p.Arg4053Gln)
c.12302G>A (p.Arg4101Gln)
c.12374G>A (p.Arg4125Gln)
 dbSNP gnomAD v4 COSMIC COSMIC
1g.237784053G>CCA345413007RYR2c.*3433G>C (n.*3433G>C)
c.12329G>C (p.Arg4110Pro)
c.12362G>C (p.Arg4121Pro)
c.4518G>C
c.12341G>C (p.Arg4114Pro)
c.2394G>C
c.12293G>C (p.Arg4098Pro)
n.3536G>C
c.12395G>C (p.Arg4132Pro)
c.12392G>C (p.Arg4131Pro)
c.12371G>C (p.Arg4124Pro)
c.12365G>C (p.Arg4122Pro)
c.12359G>C (p.Arg4120Pro)
c.12335G>C (p.Arg4112Pro)
c.12158G>C (p.Arg4053Pro)
c.12302G>C (p.Arg4101Pro)
c.12374G>C (p.Arg4125Pro)
1g.237784053G=CA2487482369RYR2c.*3433G= (n.*3433G=)
c.12329G= (p.Arg4110=)
c.12362G= (p.Arg4121=)
c.4518G=
c.12341G= (p.Arg4114=)
c.2394G=
c.12293G= (p.Arg4098=)
n.3536G=
c.12395G= (p.Arg4132=)
c.12392G= (p.Arg4131=)
c.12371G= (p.Arg4124=)
c.12365G= (p.Arg4122=)
c.12359G= (p.Arg4120=)
c.12335G= (p.Arg4112=)
c.12158G= (p.Arg4053=)
c.12302G= (p.Arg4101=)
c.12374G= (p.Arg4125=)
1g.237784053G>TCA345413008RYR2c.*3433G>T (n.*3433G>T)
c.12329G>T (p.Arg4110Leu)
c.12362G>T (p.Arg4121Leu)
c.4518G>T
c.12341G>T (p.Arg4114Leu)
c.2394G>T
c.12293G>T (p.Arg4098Leu)
n.3536G>T
c.12395G>T (p.Arg4132Leu)
c.12392G>T (p.Arg4131Leu)
c.12371G>T (p.Arg4124Leu)
c.12365G>T (p.Arg4122Leu)
c.12359G>T (p.Arg4120Leu)
c.12335G>T (p.Arg4112Leu)
c.12158G>T (p.Arg4053Leu)
c.12302G>T (p.Arg4101Leu)
c.12374G>T (p.Arg4125Leu)
1g.237784054A>CCA424032172RYR2c.*3434A>C (n.*3434A>C)
c.12330A>C (p.Arg4110=)
c.12363A>C (p.Arg4121=)
c.4519A>C
c.12342A>C (p.Arg4114=)
c.2395A>C
c.12294A>C (p.Arg4098=)
n.3537A>C
c.12396A>C (p.Arg4132=)
c.12393A>C (p.Arg4131=)
c.12372A>C (p.Arg4124=)
c.12366A>C (p.Arg4122=)
c.12360A>C (p.Arg4120=)
c.12336A>C (p.Arg4112=)
c.12159A>C (p.Arg4053=)
c.12303A>C (p.Arg4101=)
c.12375A>C (p.Arg4125=)
1g.237784054A>GCA424032175RYR2c.*3434A>G (n.*3434A>G)
c.12330A>G (p.Arg4110=)
c.12363A>G (p.Arg4121=)
c.4519A>G
c.12342A>G (p.Arg4114=)
c.2395A>G
c.12294A>G (p.Arg4098=)
n.3537A>G
c.12396A>G (p.Arg4132=)
c.12393A>G (p.Arg4131=)
c.12372A>G (p.Arg4124=)
c.12366A>G (p.Arg4122=)
c.12360A>G (p.Arg4120=)
c.12336A>G (p.Arg4112=)
c.12159A>G (p.Arg4053=)
c.12303A>G (p.Arg4101=)
c.12375A>G (p.Arg4125=)
 gnomAD v4
1g.237784054A>TCA424032174RYR2c.*3434A>T (n.*3434A>T)
c.12330A>T (p.Arg4110=)
c.12363A>T (p.Arg4121=)
c.4519A>T
c.12342A>T (p.Arg4114=)
c.2395A>T
c.12294A>T (p.Arg4098=)
n.3537A>T
c.12396A>T (p.Arg4132=)
c.12393A>T (p.Arg4131=)
c.12372A>T (p.Arg4124=)
c.12366A>T (p.Arg4122=)
c.12360A>T (p.Arg4120=)
c.12336A>T (p.Arg4112=)
c.12159A>T (p.Arg4053=)
c.12303A>T (p.Arg4101=)
c.12375A>T (p.Arg4125=)
1g.237784055C>ACA345413009RYR2c.*3435C>A (n.*3435C>A)
c.12331C>A (p.Leu4111Ile)
c.12364C>A (p.Leu4122Ile)
c.4520C>A
c.12343C>A (p.Leu4115Ile)
c.2396C>A
c.12295C>A (p.Leu4099Ile)
n.3538C>A
c.12397C>A (p.Leu4133Ile)
c.12394C>A (p.Leu4132Ile)
c.12373C>A (p.Leu4125Ile)
c.12367C>A (p.Leu4123Ile)
c.12361C>A (p.Leu4121Ile)
c.12337C>A (p.Leu4113Ile)
c.12160C>A (p.Leu4054Ile)
c.12304C>A (p.Leu4102Ile)
c.12376C>A (p.Leu4126Ile)
1g.237784055C=CA2487482370RYR2c.*3435C= (n.*3435C=)
c.12331C= (p.Leu4111=)
c.12364C= (p.Leu4122=)
c.4520C=
c.12343C= (p.Leu4115=)
c.2396C=
c.12295C= (p.Leu4099=)
n.3538C=
c.12397C= (p.Leu4133=)
c.12394C= (p.Leu4132=)
c.12373C= (p.Leu4125=)
c.12367C= (p.Leu4123=)
c.12361C= (p.Leu4121=)
c.12337C= (p.Leu4113=)
c.12160C= (p.Leu4054=)
c.12304C= (p.Leu4102=)
c.12376C= (p.Leu4126=)
1g.237784055C>GCA345413010RYR2c.*3435C>G (n.*3435C>G)
c.12331C>G (p.Leu4111Val)
c.12364C>G (p.Leu4122Val)
c.4520C>G
c.12343C>G (p.Leu4115Val)
c.2396C>G
c.12295C>G (p.Leu4099Val)
n.3538C>G
c.12397C>G (p.Leu4133Val)
c.12394C>G (p.Leu4132Val)
c.12373C>G (p.Leu4125Val)
c.12367C>G (p.Leu4123Val)
c.12361C>G (p.Leu4121Val)
c.12337C>G (p.Leu4113Val)
c.12160C>G (p.Leu4054Val)
c.12304C>G (p.Leu4102Val)
c.12376C>G (p.Leu4126Val)
1g.237784055C>TCA345413011RYR2c.*3435C>T (n.*3435C>T)
c.12331C>T (p.Leu4111Phe)
c.12364C>T (p.Leu4122Phe)
c.4520C>T
c.12343C>T (p.Leu4115Phe)
c.2396C>T
c.12295C>T (p.Leu4099Phe)
n.3538C>T
c.12397C>T (p.Leu4133Phe)
c.12394C>T (p.Leu4132Phe)
c.12373C>T (p.Leu4125Phe)
c.12367C>T (p.Leu4123Phe)
c.12361C>T (p.Leu4121Phe)
c.12337C>T (p.Leu4113Phe)
c.12160C>T (p.Leu4054Phe)
c.12304C>T (p.Leu4102Phe)
c.12376C>T (p.Leu4126Phe)
 ClinVar dbSNP
1g.237784056T>ACA345413014RYR2c.*3436T>A (n.*3436T>A)
c.12332T>A (p.Leu4111His)
c.12365T>A (p.Leu4122His)
c.4521T>A
c.12344T>A (p.Leu4115His)
c.2397T>A
c.12296T>A (p.Leu4099His)
n.3539T>A
c.12398T>A (p.Leu4133His)
c.12395T>A (p.Leu4132His)
c.12374T>A (p.Leu4125His)
c.12368T>A (p.Leu4123His)
c.12362T>A (p.Leu4121His)
c.12338T>A (p.Leu4113His)
c.12161T>A (p.Leu4054His)
c.12305T>A (p.Leu4102His)
c.12377T>A (p.Leu4126His)
1g.237784056T>CCA345413012RYR2c.*3436T>C (n.*3436T>C)
c.12332T>C (p.Leu4111Pro)
c.12365T>C (p.Leu4122Pro)
c.4521T>C
c.12344T>C (p.Leu4115Pro)
c.2397T>C
c.12296T>C (p.Leu4099Pro)
n.3539T>C
c.12398T>C (p.Leu4133Pro)
c.12395T>C (p.Leu4132Pro)
c.12374T>C (p.Leu4125Pro)
c.12368T>C (p.Leu4123Pro)
c.12362T>C (p.Leu4121Pro)
c.12338T>C (p.Leu4113Pro)
c.12161T>C (p.Leu4054Pro)
c.12305T>C (p.Leu4102Pro)
c.12377T>C (p.Leu4126Pro)
1g.237784056T>GCA345413013RYR2c.*3436T>G (n.*3436T>G)
c.12332T>G (p.Leu4111Arg)
c.12365T>G (p.Leu4122Arg)
c.4521T>G
c.12344T>G (p.Leu4115Arg)
c.2397T>G
c.12296T>G (p.Leu4099Arg)
n.3539T>G
c.12398T>G (p.Leu4133Arg)
c.12395T>G (p.Leu4132Arg)
c.12374T>G (p.Leu4125Arg)
c.12368T>G (p.Leu4123Arg)
c.12362T>G (p.Leu4121Arg)
c.12338T>G (p.Leu4113Arg)
c.12161T>G (p.Leu4054Arg)
c.12305T>G (p.Leu4102Arg)
c.12377T>G (p.Leu4126Arg)
 ClinVar
1g.237784057T>ACA424032178RYR2c.*3437T>A (n.*3437T>A)
c.12333T>A (p.Leu4111=)
c.12366T>A (p.Leu4122=)
c.4522T>A
c.12345T>A (p.Leu4115=)
c.2398T>A
c.12297T>A (p.Leu4099=)
n.3540T>A
c.12399T>A (p.Leu4133=)
c.12396T>A (p.Leu4132=)
c.12375T>A (p.Leu4125=)
c.12369T>A (p.Leu4123=)
c.12363T>A (p.Leu4121=)
c.12339T>A (p.Leu4113=)
c.12162T>A (p.Leu4054=)
c.12306T>A (p.Leu4102=)
c.12378T>A (p.Leu4126=)
1g.237784057T>CCA424032179RYR2c.*3437T>C (n.*3437T>C)
c.12333T>C (p.Leu4111=)
c.12366T>C (p.Leu4122=)
c.4522T>C
c.12345T>C (p.Leu4115=)
c.2398T>C
c.12297T>C (p.Leu4099=)
n.3540T>C
c.12399T>C (p.Leu4133=)
c.12396T>C (p.Leu4132=)
c.12375T>C (p.Leu4125=)
c.12369T>C (p.Leu4123=)
c.12363T>C (p.Leu4121=)
c.12339T>C (p.Leu4113=)
c.12162T>C (p.Leu4054=)
c.12306T>C (p.Leu4102=)
c.12378T>C (p.Leu4126=)
1g.237784057T>GCA424032180RYR2c.*3437T>G (n.*3437T>G)
c.12333T>G (p.Leu4111=)
c.12366T>G (p.Leu4122=)
c.4522T>G
c.12345T>G (p.Leu4115=)
c.2398T>G
c.12297T>G (p.Leu4099=)
n.3540T>G
c.12399T>G (p.Leu4133=)
c.12396T>G (p.Leu4132=)
c.12375T>G (p.Leu4125=)
c.12369T>G (p.Leu4123=)
c.12363T>G (p.Leu4121=)
c.12339T>G (p.Leu4113=)
c.12162T>G (p.Leu4054=)
c.12306T>G (p.Leu4102=)
c.12378T>G (p.Leu4126=)
1g.237784058C>ACA345413015RYR2c.*3438C>A (n.*3438C>A)
c.12334C>A (p.Gln4112Lys)
c.12367C>A (p.Gln4123Lys)
c.4523C>A
c.12346C>A (p.Gln4116Lys)
c.2399C>A
c.12298C>A (p.Gln4100Lys)
n.3541C>A
c.12400C>A (p.Gln4134Lys)
c.12397C>A (p.Gln4133Lys)
c.12376C>A (p.Gln4126Lys)
c.12370C>A (p.Gln4124Lys)
c.12364C>A (p.Gln4122Lys)
c.12340C>A (p.Gln4114Lys)
c.12163C>A (p.Gln4055Lys)
c.12307C>A (p.Gln4103Lys)
c.12379C>A (p.Gln4127Lys)
1g.237784058C>GCA345413016RYR2c.*3438C>G (n.*3438C>G)
c.12334C>G (p.Gln4112Glu)
c.12367C>G (p.Gln4123Glu)
c.4523C>G
c.12346C>G (p.Gln4116Glu)
c.2399C>G
c.12298C>G (p.Gln4100Glu)
n.3541C>G
c.12400C>G (p.Gln4134Glu)
c.12397C>G (p.Gln4133Glu)
c.12376C>G (p.Gln4126Glu)
c.12370C>G (p.Gln4124Glu)
c.12364C>G (p.Gln4122Glu)
c.12340C>G (p.Gln4114Glu)
c.12163C>G (p.Gln4055Glu)
c.12307C>G (p.Gln4103Glu)
c.12379C>G (p.Gln4127Glu)
1g.237784058C>TCA345413017RYR2c.*3438C>T (n.*3438C>T)
c.12334C>T (p.Gln4112Ter)
c.12367C>T (p.Gln4123Ter)
c.4523C>T
c.12346C>T (p.Gln4116Ter)
c.2399C>T
c.12298C>T (p.Gln4100Ter)
n.3541C>T
c.12400C>T (p.Gln4134Ter)
c.12397C>T (p.Gln4133Ter)
c.12376C>T (p.Gln4126Ter)
c.12370C>T (p.Gln4124Ter)
c.12364C>T (p.Gln4122Ter)
c.12340C>T (p.Gln4114Ter)
c.12163C>T (p.Gln4055Ter)
c.12307C>T (p.Gln4103Ter)
c.12379C>T (p.Gln4127Ter)
1g.237784059A=CA2487482371RYR2c.*3439A= (n.*3439A=)
c.12335A= (p.Gln4112=)
c.12368A= (p.Gln4123=)
c.4524A=
c.12347A= (p.Gln4116=)
c.2400A=
c.12299A= (p.Gln4100=)
n.3542A=
c.12401A= (p.Gln4134=)
c.12398A= (p.Gln4133=)
c.12377A= (p.Gln4126=)
c.12371A= (p.Gln4124=)
c.12365A= (p.Gln4122=)
c.12341A= (p.Gln4114=)
c.12164A= (p.Gln4055=)
c.12308A= (p.Gln4103=)
c.12380A= (p.Gln4127=)
1g.237784059A>CCA345413018RYR2c.*3439A>C (n.*3439A>C)
c.12335A>C (p.Gln4112Pro)
c.12368A>C (p.Gln4123Pro)
c.4524A>C
c.12347A>C (p.Gln4116Pro)
c.2400A>C
c.12299A>C (p.Gln4100Pro)
n.3542A>C
c.12401A>C (p.Gln4134Pro)
c.12398A>C (p.Gln4133Pro)
c.12377A>C (p.Gln4126Pro)
c.12371A>C (p.Gln4124Pro)
c.12365A>C (p.Gln4122Pro)
c.12341A>C (p.Gln4114Pro)
c.12164A>C (p.Gln4055Pro)
c.12308A>C (p.Gln4103Pro)
c.12380A>C (p.Gln4127Pro)
1g.237784059A>GCA345413019RYR2c.*3439A>G (n.*3439A>G)
c.12335A>G (p.Gln4112Arg)
c.12368A>G (p.Gln4123Arg)
c.4524A>G
c.12347A>G (p.Gln4116Arg)
c.2400A>G
c.12299A>G (p.Gln4100Arg)
n.3542A>G
c.12401A>G (p.Gln4134Arg)
c.12398A>G (p.Gln4133Arg)
c.12377A>G (p.Gln4126Arg)
c.12371A>G (p.Gln4124Arg)
c.12365A>G (p.Gln4122Arg)
c.12341A>G (p.Gln4114Arg)
c.12164A>G (p.Gln4055Arg)
c.12308A>G (p.Gln4103Arg)
c.12380A>G (p.Gln4127Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.237784059A>TCA345413020RYR2c.*3439A>T (n.*3439A>T)
c.12335A>T (p.Gln4112Leu)
c.12368A>T (p.Gln4123Leu)
c.4524A>T
c.12347A>T (p.Gln4116Leu)
c.2400A>T
c.12299A>T (p.Gln4100Leu)
n.3542A>T
c.12401A>T (p.Gln4134Leu)
c.12398A>T (p.Gln4133Leu)
c.12377A>T (p.Gln4126Leu)
c.12371A>T (p.Gln4124Leu)
c.12365A>T (p.Gln4122Leu)
c.12341A>T (p.Gln4114Leu)
c.12164A>T (p.Gln4055Leu)
c.12308A>T (p.Gln4103Leu)
c.12380A>T (p.Gln4127Leu)
1g.237784060G>ACA424032182RYR2c.*3440G>A (n.*3440G>A)
c.12336G>A (p.Gln4112=)
c.12369G>A (p.Gln4123=)
c.4525G>A
c.12348G>A (p.Gln4116=)
c.2401G>A
c.12300G>A (p.Gln4100=)
n.3543G>A
c.12402G>A (p.Gln4134=)
c.12399G>A (p.Gln4133=)
c.12378G>A (p.Gln4126=)
c.12372G>A (p.Gln4124=)
c.12366G>A (p.Gln4122=)
c.12342G>A (p.Gln4114=)
c.12165G>A (p.Gln4055=)
c.12309G>A (p.Gln4103=)
c.12381G>A (p.Gln4127=)
1g.237784060G>CCA345413021RYR2c.*3440G>C (n.*3440G>C)
c.12336G>C (p.Gln4112His)
c.12369G>C (p.Gln4123His)
c.4525G>C
c.12348G>C (p.Gln4116His)
c.2401G>C
c.12300G>C (p.Gln4100His)
n.3543G>C
c.12402G>C (p.Gln4134His)
c.12399G>C (p.Gln4133His)
c.12378G>C (p.Gln4126His)
c.12372G>C (p.Gln4124His)
c.12366G>C (p.Gln4122His)
c.12342G>C (p.Gln4114His)
c.12165G>C (p.Gln4055His)
c.12309G>C (p.Gln4103His)
c.12381G>C (p.Gln4127His)
1g.237784060G>TCA345413022RYR2c.*3440G>T (n.*3440G>T)
c.12336G>T (p.Gln4112His)
c.12369G>T (p.Gln4123His)
c.4525G>T
c.12348G>T (p.Gln4116His)
c.2401G>T
c.12300G>T (p.Gln4100His)
n.3543G>T
c.12402G>T (p.Gln4134His)
c.12399G>T (p.Gln4133His)
c.12378G>T (p.Gln4126His)
c.12372G>T (p.Gln4124His)
c.12366G>T (p.Gln4122His)
c.12342G>T (p.Gln4114His)
c.12165G>T (p.Gln4055His)
c.12309G>T (p.Gln4103His)
c.12381G>T (p.Gln4127His)
 ClinVar dbSNP
1g.237784061A>CCA345413023RYR2c.*3441A>C (n.*3441A>C)
c.12337A>C (p.Thr4113Pro)
c.12370A>C (p.Thr4124Pro)
c.4526A>C
c.12349A>C (p.Thr4117Pro)
c.2402A>C
c.12301A>C (p.Thr4101Pro)
n.3544A>C
c.12403A>C (p.Thr4135Pro)
c.12400A>C (p.Thr4134Pro)
c.12379A>C (p.Thr4127Pro)
c.12373A>C (p.Thr4125Pro)
c.12367A>C (p.Thr4123Pro)
c.12343A>C (p.Thr4115Pro)
c.12166A>C (p.Thr4056Pro)
c.12310A>C (p.Thr4104Pro)
c.12382A>C (p.Thr4128Pro)
1g.237784061A>GCA345413024RYR2c.*3441A>G (n.*3441A>G)
c.12337A>G (p.Thr4113Ala)
c.12370A>G (p.Thr4124Ala)
c.4526A>G
c.12349A>G (p.Thr4117Ala)
c.2402A>G
c.12301A>G (p.Thr4101Ala)
n.3544A>G
c.12403A>G (p.Thr4135Ala)
c.12400A>G (p.Thr4134Ala)
c.12379A>G (p.Thr4127Ala)
c.12373A>G (p.Thr4125Ala)
c.12367A>G (p.Thr4123Ala)
c.12343A>G (p.Thr4115Ala)
c.12166A>G (p.Thr4056Ala)
c.12310A>G (p.Thr4104Ala)
c.12382A>G (p.Thr4128Ala)
1g.237784061A>TCA345413025RYR2c.*3441A>T (n.*3441A>T)
c.12337A>T (p.Thr4113Ser)
c.12370A>T (p.Thr4124Ser)
c.4526A>T
c.12349A>T (p.Thr4117Ser)
c.2402A>T
c.12301A>T (p.Thr4101Ser)
n.3544A>T
c.12403A>T (p.Thr4135Ser)
c.12400A>T (p.Thr4134Ser)
c.12379A>T (p.Thr4127Ser)
c.12373A>T (p.Thr4125Ser)
c.12367A>T (p.Thr4123Ser)
c.12343A>T (p.Thr4115Ser)
c.12166A>T (p.Thr4056Ser)
c.12310A>T (p.Thr4104Ser)
c.12382A>T (p.Thr4128Ser)
1g.237784062C>ACA345413027RYR2c.*3442C>A (n.*3442C>A)
c.12338C>A (p.Thr4113Asn)
c.12371C>A (p.Thr4124Asn)
c.4527C>A
c.12350C>A (p.Thr4117Asn)
c.2403C>A
c.12302C>A (p.Thr4101Asn)
n.3545C>A
c.12404C>A (p.Thr4135Asn)
c.12401C>A (p.Thr4134Asn)
c.12380C>A (p.Thr4127Asn)
c.12374C>A (p.Thr4125Asn)
c.12368C>A (p.Thr4123Asn)
c.12344C>A (p.Thr4115Asn)
c.12167C>A (p.Thr4056Asn)
c.12311C>A (p.Thr4104Asn)
c.12383C>A (p.Thr4128Asn)
 COSMIC COSMIC
1g.237784062C>GCA345413028RYR2c.*3442C>G (n.*3442C>G)
c.12338C>G (p.Thr4113Ser)
c.12371C>G (p.Thr4124Ser)
c.4527C>G
c.12350C>G (p.Thr4117Ser)
c.2403C>G
c.12302C>G (p.Thr4101Ser)
n.3545C>G
c.12404C>G (p.Thr4135Ser)
c.12401C>G (p.Thr4134Ser)
c.12380C>G (p.Thr4127Ser)
c.12374C>G (p.Thr4125Ser)
c.12368C>G (p.Thr4123Ser)
c.12344C>G (p.Thr4115Ser)
c.12167C>G (p.Thr4056Ser)
c.12311C>G (p.Thr4104Ser)
c.12383C>G (p.Thr4128Ser)
1g.237784062C>TCA345413026RYR2c.*3442C>T (n.*3442C>T)
c.12338C>T (p.Thr4113Ile)
c.12371C>T (p.Thr4124Ile)
c.4527C>T
c.12350C>T (p.Thr4117Ile)
c.2403C>T
c.12302C>T (p.Thr4101Ile)
n.3545C>T
c.12404C>T (p.Thr4135Ile)
c.12401C>T (p.Thr4134Ile)
c.12380C>T (p.Thr4127Ile)
c.12374C>T (p.Thr4125Ile)
c.12368C>T (p.Thr4123Ile)
c.12344C>T (p.Thr4115Ile)
c.12167C>T (p.Thr4056Ile)
c.12311C>T (p.Thr4104Ile)
c.12383C>T (p.Thr4128Ile)
1g.237784063T>ACA424032186RYR2c.*3443T>A (n.*3443T>A)
c.12339T>A (p.Thr4113=)
c.12372T>A (p.Thr4124=)
c.4528T>A
c.12351T>A (p.Thr4117=)
c.2404T>A
c.12303T>A (p.Thr4101=)
n.3546T>A
c.12405T>A (p.Thr4135=)
c.12402T>A (p.Thr4134=)
c.12381T>A (p.Thr4127=)
c.12375T>A (p.Thr4125=)
c.12369T>A (p.Thr4123=)
c.12345T>A (p.Thr4115=)
c.12168T>A (p.Thr4056=)
c.12312T>A (p.Thr4104=)
c.12384T>A (p.Thr4128=)
1g.237784063T>CCA424032188RYR2c.*3443T>C (n.*3443T>C)
c.12339T>C (p.Thr4113=)
c.12372T>C (p.Thr4124=)
c.4528T>C
c.12351T>C (p.Thr4117=)
c.2404T>C
c.12303T>C (p.Thr4101=)
n.3546T>C
c.12405T>C (p.Thr4135=)
c.12402T>C (p.Thr4134=)
c.12381T>C (p.Thr4127=)
c.12375T>C (p.Thr4125=)
c.12369T>C (p.Thr4123=)
c.12345T>C (p.Thr4115=)
c.12168T>C (p.Thr4056=)
c.12312T>C (p.Thr4104=)
c.12384T>C (p.Thr4128=)
 gnomAD v4
1g.237784063T>GCA424032189RYR2c.*3443T>G (n.*3443T>G)
c.12339T>G (p.Thr4113=)
c.12372T>G (p.Thr4124=)
c.4528T>G
c.12351T>G (p.Thr4117=)
c.2404T>G
c.12303T>G (p.Thr4101=)
n.3546T>G
c.12405T>G (p.Thr4135=)
c.12402T>G (p.Thr4134=)
c.12381T>G (p.Thr4127=)
c.12375T>G (p.Thr4125=)
c.12369T>G (p.Thr4123=)
c.12345T>G (p.Thr4115=)
c.12168T>G (p.Thr4056=)
c.12312T>G (p.Thr4104=)
c.12384T>G (p.Thr4128=)
1g.237784064T>ACA345413029RYR2c.*3444T>A (n.*3444T>A)
c.12340T>A (p.Phe4114Ile)
c.12373T>A (p.Phe4125Ile)
c.4529T>A
c.12352T>A (p.Phe4118Ile)
c.2405T>A
c.12304T>A (p.Phe4102Ile)
n.3547T>A
c.12406T>A (p.Phe4136Ile)
c.12403T>A (p.Phe4135Ile)
c.12382T>A (p.Phe4128Ile)
c.12376T>A (p.Phe4126Ile)
c.12370T>A (p.Phe4124Ile)
c.12346T>A (p.Phe4116Ile)
c.12169T>A (p.Phe4057Ile)
c.12313T>A (p.Phe4105Ile)
c.12385T>A (p.Phe4129Ile)
1g.237784064T>CCA345413030RYR2c.*3444T>C (n.*3444T>C)
c.12340T>C (p.Phe4114Leu)
c.12373T>C (p.Phe4125Leu)
c.4529T>C
c.12352T>C (p.Phe4118Leu)
c.2405T>C
c.12304T>C (p.Phe4102Leu)
n.3547T>C
c.12406T>C (p.Phe4136Leu)
c.12403T>C (p.Phe4135Leu)
c.12382T>C (p.Phe4128Leu)
c.12376T>C (p.Phe4126Leu)
c.12370T>C (p.Phe4124Leu)
c.12346T>C (p.Phe4116Leu)
c.12169T>C (p.Phe4057Leu)
c.12313T>C (p.Phe4105Leu)
c.12385T>C (p.Phe4129Leu)
1g.237784064T>GCA345413031RYR2c.*3444T>G (n.*3444T>G)
c.12340T>G (p.Phe4114Val)
c.12373T>G (p.Phe4125Val)
c.4529T>G
c.12352T>G (p.Phe4118Val)
c.2405T>G
c.12304T>G (p.Phe4102Val)
n.3547T>G
c.12406T>G (p.Phe4136Val)
c.12403T>G (p.Phe4135Val)
c.12382T>G (p.Phe4128Val)
c.12376T>G (p.Phe4126Val)
c.12370T>G (p.Phe4124Val)
c.12346T>G (p.Phe4116Val)
c.12169T>G (p.Phe4057Val)
c.12313T>G (p.Phe4105Val)
c.12385T>G (p.Phe4129Val)
1g.237784065T>ACA345413032RYR2c.*3445T>A (n.*3445T>A)
c.12341T>A (p.Phe4114Tyr)
c.12374T>A (p.Phe4125Tyr)
c.4530T>A
c.12353T>A (p.Phe4118Tyr)
c.2406T>A
c.12305T>A (p.Phe4102Tyr)
n.3548T>A
c.12407T>A (p.Phe4136Tyr)
c.12404T>A (p.Phe4135Tyr)
c.12383T>A (p.Phe4128Tyr)
c.12377T>A (p.Phe4126Tyr)
c.12371T>A (p.Phe4124Tyr)
c.12347T>A (p.Phe4116Tyr)
c.12170T>A (p.Phe4057Tyr)
c.12314T>A (p.Phe4105Tyr)
c.12386T>A (p.Phe4129Tyr)
1g.237784065T>CCA345413033RYR2c.*3445T>C (n.*3445T>C)
c.12341T>C (p.Phe4114Ser)
c.12374T>C (p.Phe4125Ser)
c.4530T>C
c.12353T>C (p.Phe4118Ser)
c.2406T>C
c.12305T>C (p.Phe4102Ser)
n.3548T>C
c.12407T>C (p.Phe4136Ser)
c.12404T>C (p.Phe4135Ser)
c.12383T>C (p.Phe4128Ser)
c.12377T>C (p.Phe4126Ser)
c.12371T>C (p.Phe4124Ser)
c.12347T>C (p.Phe4116Ser)
c.12170T>C (p.Phe4057Ser)
c.12314T>C (p.Phe4105Ser)
c.12386T>C (p.Phe4129Ser)
1g.237784065T>GCA345413034RYR2c.*3445T>G (n.*3445T>G)
c.12341T>G (p.Phe4114Cys)
c.12374T>G (p.Phe4125Cys)
c.4530T>G
c.12353T>G (p.Phe4118Cys)
c.2406T>G
c.12305T>G (p.Phe4102Cys)
n.3548T>G
c.12407T>G (p.Phe4136Cys)
c.12404T>G (p.Phe4135Cys)
c.12383T>G (p.Phe4128Cys)
c.12377T>G (p.Phe4126Cys)
c.12371T>G (p.Phe4124Cys)
c.12347T>G (p.Phe4116Cys)
c.12170T>G (p.Phe4057Cys)
c.12314T>G (p.Phe4105Cys)
c.12386T>G (p.Phe4129Cys)
1g.237784066T>ACA345413035RYR2c.*3446T>A (n.*3446T>A)
c.12342T>A (p.Phe4114Leu)
c.12375T>A (p.Phe4125Leu)
c.4531T>A
c.12354T>A (p.Phe4118Leu)
c.2407T>A
c.12306T>A (p.Phe4102Leu)
n.3549T>A
c.12408T>A (p.Phe4136Leu)
c.12405T>A (p.Phe4135Leu)
c.12384T>A (p.Phe4128Leu)
c.12378T>A (p.Phe4126Leu)
c.12372T>A (p.Phe4124Leu)
c.12348T>A (p.Phe4116Leu)
c.12171T>A (p.Phe4057Leu)
c.12315T>A (p.Phe4105Leu)
c.12387T>A (p.Phe4129Leu)
1g.237784066T>CCA424032039RYR2c.*3446T>C (n.*3446T>C)
c.12342T>C (p.Phe4114=)
c.12375T>C (p.Phe4125=)
c.4531T>C
c.12354T>C (p.Phe4118=)
c.2407T>C
c.12306T>C (p.Phe4102=)
n.3549T>C
c.12408T>C (p.Phe4136=)
c.12405T>C (p.Phe4135=)
c.12384T>C (p.Phe4128=)
c.12378T>C (p.Phe4126=)
c.12372T>C (p.Phe4124=)
c.12348T>C (p.Phe4116=)
c.12171T>C (p.Phe4057=)
c.12315T>C (p.Phe4105=)
c.12387T>C (p.Phe4129=)
 ClinVar
1g.237784066T>GCA345413036RYR2c.*3446T>G (n.*3446T>G)
c.12342T>G (p.Phe4114Leu)
c.12375T>G (p.Phe4125Leu)
c.4531T>G
c.12354T>G (p.Phe4118Leu)
c.2407T>G
c.12306T>G (p.Phe4102Leu)
n.3549T>G
c.12408T>G (p.Phe4136Leu)
c.12405T>G (p.Phe4135Leu)
c.12384T>G (p.Phe4128Leu)
c.12378T>G (p.Phe4126Leu)
c.12372T>G (p.Phe4124Leu)
c.12348T>G (p.Phe4116Leu)
c.12171T>G (p.Phe4057Leu)
c.12315T>G (p.Phe4105Leu)
c.12387T>G (p.Phe4129Leu)
1g.237784067C>ACA345413037RYR2c.*3447C>A (n.*3447C>A)
c.12343C>A (p.Leu4115Met)
c.12376C>A (p.Leu4126Met)
c.4532C>A
c.12355C>A (p.Leu4119Met)
c.2408C>A
c.12307C>A (p.Leu4103Met)
n.3550C>A
c.12409C>A (p.Leu4137Met)
c.12406C>A (p.Leu4136Met)
c.12385C>A (p.Leu4129Met)
c.12379C>A (p.Leu4127Met)
c.12373C>A (p.Leu4125Met)
c.12349C>A (p.Leu4117Met)
c.12172C>A (p.Leu4058Met)
c.12316C>A (p.Leu4106Met)
c.12388C>A (p.Leu4130Met)
1g.237784067C>GCA345413038RYR2c.*3447C>G (n.*3447C>G)
c.12343C>G (p.Leu4115Val)
c.12376C>G (p.Leu4126Val)
c.4532C>G
c.12355C>G (p.Leu4119Val)
c.2408C>G
c.12307C>G (p.Leu4103Val)
n.3550C>G
c.12409C>G (p.Leu4137Val)
c.12406C>G (p.Leu4136Val)
c.12385C>G (p.Leu4129Val)
c.12379C>G (p.Leu4127Val)
c.12373C>G (p.Leu4125Val)
c.12349C>G (p.Leu4117Val)
c.12172C>G (p.Leu4058Val)
c.12316C>G (p.Leu4106Val)
c.12388C>G (p.Leu4130Val)
1g.237784067C>TCA424032040RYR2c.*3447C>T (n.*3447C>T)
c.12343C>T (p.Leu4115=)
c.12376C>T (p.Leu4126=)
c.4532C>T
c.12355C>T (p.Leu4119=)
c.2408C>T
c.12307C>T (p.Leu4103=)
n.3550C>T
c.12409C>T (p.Leu4137=)
c.12406C>T (p.Leu4136=)
c.12385C>T (p.Leu4129=)
c.12379C>T (p.Leu4127=)
c.12373C>T (p.Leu4125=)
c.12349C>T (p.Leu4117=)
c.12172C>T (p.Leu4058=)
c.12316C>T (p.Leu4106=)
c.12388C>T (p.Leu4130=)
1g.237784068T>ACA345413039RYR2c.*3448T>A (n.*3448T>A)
c.12344T>A (p.Leu4115Gln)
c.12377T>A (p.Leu4126Gln)
c.4533T>A
c.12356T>A (p.Leu4119Gln)
c.2409T>A
c.12308T>A (p.Leu4103Gln)
n.3551T>A
c.12410T>A (p.Leu4137Gln)
c.12407T>A (p.Leu4136Gln)
c.12386T>A (p.Leu4129Gln)
c.12380T>A (p.Leu4127Gln)
c.12374T>A (p.Leu4125Gln)
c.12350T>A (p.Leu4117Gln)
c.12173T>A (p.Leu4058Gln)
c.12317T>A (p.Leu4106Gln)
c.12389T>A (p.Leu4130Gln)
1g.237784068T>CCA345413040RYR2c.*3448T>C (n.*3448T>C)
c.12344T>C (p.Leu4115Pro)
c.12377T>C (p.Leu4126Pro)
c.4533T>C
c.12356T>C (p.Leu4119Pro)
c.2409T>C
c.12308T>C (p.Leu4103Pro)
n.3551T>C
c.12410T>C (p.Leu4137Pro)
c.12407T>C (p.Leu4136Pro)
c.12386T>C (p.Leu4129Pro)
c.12380T>C (p.Leu4127Pro)
c.12374T>C (p.Leu4125Pro)
c.12350T>C (p.Leu4117Pro)
c.12173T>C (p.Leu4058Pro)
c.12317T>C (p.Leu4106Pro)
c.12389T>C (p.Leu4130Pro)
1g.237784068T>GCA345413041RYR2c.*3448T>G (n.*3448T>G)
c.12344T>G (p.Leu4115Arg)
c.12377T>G (p.Leu4126Arg)
c.4533T>G
c.12356T>G (p.Leu4119Arg)
c.2409T>G
c.12308T>G (p.Leu4103Arg)
n.3551T>G
c.12410T>G (p.Leu4137Arg)
c.12407T>G (p.Leu4136Arg)
c.12386T>G (p.Leu4129Arg)
c.12380T>G (p.Leu4127Arg)
c.12374T>G (p.Leu4125Arg)
c.12350T>G (p.Leu4117Arg)
c.12173T>G (p.Leu4058Arg)
c.12317T>G (p.Leu4106Arg)
c.12389T>G (p.Leu4130Arg)
1g.237784069G>ACA424032041RYR2c.*3449G>A (n.*3449G>A)
c.12345G>A (p.Leu4115=)
c.12378G>A (p.Leu4126=)
c.4534G>A
c.12357G>A (p.Leu4119=)
c.2410G>A
c.12309G>A (p.Leu4103=)
n.3552G>A
c.12411G>A (p.Leu4137=)
c.12408G>A (p.Leu4136=)
c.12387G>A (p.Leu4129=)
c.12381G>A (p.Leu4127=)
c.12375G>A (p.Leu4125=)
c.12351G>A (p.Leu4117=)
c.12174G>A (p.Leu4058=)
c.12318G>A (p.Leu4106=)
c.12390G>A (p.Leu4130=)
 ClinVar dbSNP
1g.237784069G>CCA424032042RYR2c.*3449G>C (n.*3449G>C)
c.12345G>C (p.Leu4115=)
c.12378G>C (p.Leu4126=)
c.4534G>C
c.12357G>C (p.Leu4119=)
c.2410G>C
c.12309G>C (p.Leu4103=)
n.3552G>C
c.12411G>C (p.Leu4137=)
c.12408G>C (p.Leu4136=)
c.12387G>C (p.Leu4129=)
c.12381G>C (p.Leu4127=)
c.12375G>C (p.Leu4125=)
c.12351G>C (p.Leu4117=)
c.12174G>C (p.Leu4058=)
c.12318G>C (p.Leu4106=)
c.12390G>C (p.Leu4130=)
 gnomAD v4
1g.237784069G>TCA424032043RYR2c.*3449G>T (n.*3449G>T)
c.12345G>T (p.Leu4115=)
c.12378G>T (p.Leu4126=)
c.4534G>T
c.12357G>T (p.Leu4119=)
c.2410G>T
c.12309G>T (p.Leu4103=)
n.3552G>T
c.12411G>T (p.Leu4137=)
c.12408G>T (p.Leu4136=)
c.12387G>T (p.Leu4129=)
c.12381G>T (p.Leu4127=)
c.12375G>T (p.Leu4125=)
c.12351G>T (p.Leu4117=)
c.12174G>T (p.Leu4058=)
c.12318G>T (p.Leu4106=)
c.12390G>T (p.Leu4130=)
1g.237784070G>ACA345413044RYR2c.*3450G>A (n.*3450G>A)
c.12346G>A (p.Glu4116Lys)
c.12379G>A (p.Glu4127Lys)
c.4535G>A
c.12358G>A (p.Glu4120Lys)
c.2411G>A
c.12310G>A (p.Glu4104Lys)
n.3553G>A
c.12412G>A (p.Glu4138Lys)
c.12409G>A (p.Glu4137Lys)
c.12388G>A (p.Glu4130Lys)
c.12382G>A (p.Glu4128Lys)
c.12376G>A (p.Glu4126Lys)
c.12352G>A (p.Glu4118Lys)
c.12175G>A (p.Glu4059Lys)
c.12319G>A (p.Glu4107Lys)
c.12391G>A (p.Glu4131Lys)
 COSMIC COSMIC
1g.237784070G>CCA345413043RYR2c.*3450G>C (n.*3450G>C)
c.12346G>C (p.Glu4116Gln)
c.12379G>C (p.Glu4127Gln)
c.4535G>C
c.12358G>C (p.Glu4120Gln)
c.2411G>C
c.12310G>C (p.Glu4104Gln)
n.3553G>C
c.12412G>C (p.Glu4138Gln)
c.12409G>C (p.Glu4137Gln)
c.12388G>C (p.Glu4130Gln)
c.12382G>C (p.Glu4128Gln)
c.12376G>C (p.Glu4126Gln)
c.12352G>C (p.Glu4118Gln)
c.12175G>C (p.Glu4059Gln)
c.12319G>C (p.Glu4107Gln)
c.12391G>C (p.Glu4131Gln)
1g.237784070G>TCA345413042RYR2c.*3450G>T (n.*3450G>T)
c.12346G>T (p.Glu4116Ter)
c.12379G>T (p.Glu4127Ter)
c.4535G>T
c.12358G>T (p.Glu4120Ter)
c.2411G>T
c.12310G>T (p.Glu4104Ter)
n.3553G>T
c.12412G>T (p.Glu4138Ter)
c.12409G>T (p.Glu4137Ter)
c.12388G>T (p.Glu4130Ter)
c.12382G>T (p.Glu4128Ter)
c.12376G>T (p.Glu4126Ter)
c.12352G>T (p.Glu4118Ter)
c.12175G>T (p.Glu4059Ter)
c.12319G>T (p.Glu4107Ter)
c.12391G>T (p.Glu4131Ter)
1g.237784071A>CCA345413045RYR2c.*3451A>C (n.*3451A>C)
c.12347A>C (p.Glu4116Ala)
c.12380A>C (p.Glu4127Ala)
c.4536A>C
c.12359A>C (p.Glu4120Ala)
c.2412A>C
c.12311A>C (p.Glu4104Ala)
n.3554A>C
c.12413A>C (p.Glu4138Ala)
c.12410A>C (p.Glu4137Ala)
c.12389A>C (p.Glu4130Ala)
c.12383A>C (p.Glu4128Ala)
c.12377A>C (p.Glu4126Ala)
c.12353A>C (p.Glu4118Ala)
c.12176A>C (p.Glu4059Ala)
c.12320A>C (p.Glu4107Ala)
c.12392A>C (p.Glu4131Ala)
1g.237784071A>GCA345413046RYR2c.*3451A>G (n.*3451A>G)
c.12347A>G (p.Glu4116Gly)
c.12380A>G (p.Glu4127Gly)
c.4536A>G
c.12359A>G (p.Glu4120Gly)
c.2412A>G
c.12311A>G (p.Glu4104Gly)
n.3554A>G
c.12413A>G (p.Glu4138Gly)
c.12410A>G (p.Glu4137Gly)
c.12389A>G (p.Glu4130Gly)
c.12383A>G (p.Glu4128Gly)
c.12377A>G (p.Glu4126Gly)
c.12353A>G (p.Glu4118Gly)
c.12176A>G (p.Glu4059Gly)
c.12320A>G (p.Glu4107Gly)
c.12392A>G (p.Glu4131Gly)
 gnomAD v4
1g.237784071A>TCA345413047RYR2c.*3451A>T (n.*3451A>T)
c.12347A>T (p.Glu4116Val)
c.12380A>T (p.Glu4127Val)
c.4536A>T
c.12359A>T (p.Glu4120Val)
c.2412A>T
c.12311A>T (p.Glu4104Val)
n.3554A>T
c.12413A>T (p.Glu4138Val)
c.12410A>T (p.Glu4137Val)
c.12389A>T (p.Glu4130Val)
c.12383A>T (p.Glu4128Val)
c.12377A>T (p.Glu4126Val)
c.12353A>T (p.Glu4118Val)
c.12176A>T (p.Glu4059Val)
c.12320A>T (p.Glu4107Val)
c.12392A>T (p.Glu4131Val)
1g.237784072A>CCA345413048RYR2c.*3452A>C (n.*3452A>C)
c.12348A>C (p.Glu4116Asp)
c.12381A>C (p.Glu4127Asp)
c.4537A>C
c.12360A>C (p.Glu4120Asp)
c.2413A>C
c.12312A>C (p.Glu4104Asp)
n.3555A>C
c.12414A>C (p.Glu4138Asp)
c.12411A>C (p.Glu4137Asp)
c.12390A>C (p.Glu4130Asp)
c.12384A>C (p.Glu4128Asp)
c.12378A>C (p.Glu4126Asp)
c.12354A>C (p.Glu4118Asp)
c.12177A>C (p.Glu4059Asp)
c.12321A>C (p.Glu4107Asp)
c.12393A>C (p.Glu4131Asp)
1g.237784072A>GCA424032049RYR2c.*3452A>G (n.*3452A>G)
c.12348A>G (p.Glu4116=)
c.12381A>G (p.Glu4127=)
c.4537A>G
c.12360A>G (p.Glu4120=)
c.2413A>G
c.12312A>G (p.Glu4104=)
n.3555A>G
c.12414A>G (p.Glu4138=)
c.12411A>G (p.Glu4137=)
c.12390A>G (p.Glu4130=)
c.12384A>G (p.Glu4128=)
c.12378A>G (p.Glu4126=)
c.12354A>G (p.Glu4118=)
c.12177A>G (p.Glu4059=)
c.12321A>G (p.Glu4107=)
c.12393A>G (p.Glu4131=)
1g.237784072A>TCA345413049RYR2c.*3452A>T (n.*3452A>T)
c.12348A>T (p.Glu4116Asp)
c.12381A>T (p.Glu4127Asp)
c.4537A>T
c.12360A>T (p.Glu4120Asp)
c.2413A>T
c.12312A>T (p.Glu4104Asp)
n.3555A>T
c.12414A>T (p.Glu4138Asp)
c.12411A>T (p.Glu4137Asp)
c.12390A>T (p.Glu4130Asp)
c.12384A>T (p.Glu4128Asp)
c.12378A>T (p.Glu4126Asp)
c.12354A>T (p.Glu4118Asp)
c.12177A>T (p.Glu4059Asp)
c.12321A>T (p.Glu4107Asp)
c.12393A>T (p.Glu4131Asp)
1g.237784073T>ACA345413050RYR2c.*3453T>A (n.*3453T>A)
c.12349T>A (p.Leu4117Ile)
c.12382T>A (p.Leu4128Ile)
c.4538T>A
c.12361T>A (p.Leu4121Ile)
c.2414T>A
c.12313T>A (p.Leu4105Ile)
n.3556T>A
c.12415T>A (p.Leu4139Ile)
c.12412T>A (p.Leu4138Ile)
c.12391T>A (p.Leu4131Ile)
c.12385T>A (p.Leu4129Ile)
c.12379T>A (p.Leu4127Ile)
c.12355T>A (p.Leu4119Ile)
c.12178T>A (p.Leu4060Ile)
c.12322T>A (p.Leu4108Ile)
c.12394T>A (p.Leu4132Ile)
1g.237784073T>CCA424032050RYR2c.*3453T>C (n.*3453T>C)
c.12349T>C (p.Leu4117=)
c.12382T>C (p.Leu4128=)
c.4538T>C
c.12361T>C (p.Leu4121=)
c.2414T>C
c.12313T>C (p.Leu4105=)
n.3556T>C
c.12415T>C (p.Leu4139=)
c.12412T>C (p.Leu4138=)
c.12391T>C (p.Leu4131=)
c.12385T>C (p.Leu4129=)
c.12379T>C (p.Leu4127=)
c.12355T>C (p.Leu4119=)
c.12178T>C (p.Leu4060=)
c.12322T>C (p.Leu4108=)
c.12394T>C (p.Leu4132=)
1g.237784073T>GCA345413051RYR2c.*3453T>G (n.*3453T>G)
c.12349T>G (p.Leu4117Val)
c.12382T>G (p.Leu4128Val)
c.4538T>G
c.12361T>G (p.Leu4121Val)
c.2414T>G
c.12313T>G (p.Leu4105Val)
n.3556T>G
c.12415T>G (p.Leu4139Val)
c.12412T>G (p.Leu4138Val)
c.12391T>G (p.Leu4131Val)
c.12385T>G (p.Leu4129Val)
c.12379T>G (p.Leu4127Val)
c.12355T>G (p.Leu4119Val)
c.12178T>G (p.Leu4060Val)
c.12322T>G (p.Leu4108Val)
c.12394T>G (p.Leu4132Val)
1g.237784073T=CA2487482372RYR2c.*3453T= (n.*3453T=)
c.12349T= (p.Leu4117=)
c.12382T= (p.Leu4128=)
c.4538T=
c.12361T= (p.Leu4121=)
c.2414T=
c.12313T= (p.Leu4105=)
n.3556T=
c.12415T= (p.Leu4139=)
c.12412T= (p.Leu4138=)
c.12391T= (p.Leu4131=)
c.12385T= (p.Leu4129=)
c.12379T= (p.Leu4127=)
c.12355T= (p.Leu4119=)
c.12178T= (p.Leu4060=)
c.12322T= (p.Leu4108=)
c.12394T= (p.Leu4132=)
1g.237784073_237784074insAACA2487482373RYR2c.*3453_*3454insAA (n.*3453_*3454insAA)
c.12349_12350insAA (p.Leu4117Ter)
c.12382_12383insAA (p.Leu4128Ter)
c.4538_4539insAA
c.12361_12362insAA (p.Leu4121Ter)
c.2414_2415insAA
c.12313_12314insAA (p.Leu4105Ter)
n.3556_3557insAA
c.12415_12416insAA (p.Leu4139Ter)
c.12412_12413insAA (p.Leu4138Ter)
c.12391_12392insAA (p.Leu4131Ter)
c.12385_12386insAA (p.Leu4129Ter)
c.12379_12380insAA (p.Leu4127Ter)
c.12355_12356insAA (p.Leu4119Ter)
c.12178_12179insAA (p.Leu4060Ter)
c.12322_12323insAA (p.Leu4108Ter)
c.12394_12395insAA (p.Leu4132Ter)
 dbSNP
1g.237784074T>ACA345413052RYR2c.*3454T>A (n.*3454T>A)
c.12350T>A (p.Leu4117Ter)
c.12383T>A (p.Leu4128Ter)
c.4539T>A
c.12362T>A (p.Leu4121Ter)
c.2415T>A
c.12314T>A (p.Leu4105Ter)
n.3557T>A
c.12416T>A (p.Leu4139Ter)
c.12413T>A (p.Leu4138Ter)
c.12392T>A (p.Leu4131Ter)
c.12386T>A (p.Leu4129Ter)
c.12380T>A (p.Leu4127Ter)
c.12356T>A (p.Leu4119Ter)
c.12179T>A (p.Leu4060Ter)
c.12323T>A (p.Leu4108Ter)
c.12395T>A (p.Leu4132Ter)
1g.237784074T>CCA345413053RYR2c.*3454T>C (n.*3454T>C)
c.12350T>C (p.Leu4117Ser)
c.12383T>C (p.Leu4128Ser)
c.4539T>C
c.12362T>C (p.Leu4121Ser)
c.2415T>C
c.12314T>C (p.Leu4105Ser)
n.3557T>C
c.12416T>C (p.Leu4139Ser)
c.12413T>C (p.Leu4138Ser)
c.12392T>C (p.Leu4131Ser)
c.12386T>C (p.Leu4129Ser)
c.12380T>C (p.Leu4127Ser)
c.12356T>C (p.Leu4119Ser)
c.12179T>C (p.Leu4060Ser)
c.12323T>C (p.Leu4108Ser)
c.12395T>C (p.Leu4132Ser)
1g.237784074T>GCA345413054RYR2c.*3454T>G (n.*3454T>G)
c.12350T>G (p.Leu4117Ter)
c.12383T>G (p.Leu4128Ter)
c.4539T>G
c.12362T>G (p.Leu4121Ter)
c.2415T>G
c.12314T>G (p.Leu4105Ter)
n.3557T>G
c.12416T>G (p.Leu4139Ter)
c.12413T>G (p.Leu4138Ter)
c.12392T>G (p.Leu4131Ter)
c.12386T>G (p.Leu4129Ter)
c.12380T>G (p.Leu4127Ter)
c.12356T>G (p.Leu4119Ter)
c.12179T>G (p.Leu4060Ter)
c.12323T>G (p.Leu4108Ter)
c.12395T>G (p.Leu4132Ter)
1g.237784074_237784077delinsTAGCCA2487482374RYR2c.*3454_*3457delinsTAGC (n.*3454_*3457delinsTAGC)
c.12350_12353delinsTAGC (p.Leu4117=)
c.12383_12386delinsTAGC (p.Leu4128=)
c.4539_4542delinsTAGC
c.12362_12365delinsTAGC (p.Leu4121=)
c.2415_2418delinsTAGC
c.12314_12317delinsTAGC (p.Leu4105=)
n.3557_3560delinsTAGC
c.12416_12419delinsTAGC (p.Leu4139=)
c.12413_12416delinsTAGC (p.Leu4138=)
c.12392_12395delinsTAGC (p.Leu4131=)
c.12386_12389delinsTAGC (p.Leu4129=)
c.12380_12383delinsTAGC (p.Leu4127=)
c.12356_12359delinsTAGC (p.Leu4119=)
c.12179_12182delinsTAGC (p.Leu4060=)
c.12323_12326delinsTAGC (p.Leu4108=)
c.12395_12398delinsTAGC (p.Leu4132=)
1g.237784075A>CCA345413055RYR2c.*3455A>C (n.*3455A>C)
c.12351A>C (p.Leu4117Phe)
c.12384A>C (p.Leu4128Phe)
c.4540A>C
c.12363A>C (p.Leu4121Phe)
c.2416A>C
c.12315A>C (p.Leu4105Phe)
n.3558A>C
c.12417A>C (p.Leu4139Phe)
c.12414A>C (p.Leu4138Phe)
c.12393A>C (p.Leu4131Phe)
c.12387A>C (p.Leu4129Phe)
c.12381A>C (p.Leu4127Phe)
c.12357A>C (p.Leu4119Phe)
c.12180A>C (p.Leu4060Phe)
c.12324A>C (p.Leu4108Phe)
c.12396A>C (p.Leu4132Phe)
1g.237784075A>GCA424032055RYR2c.*3455A>G (n.*3455A>G)
c.12351A>G (p.Leu4117=)
c.12384A>G (p.Leu4128=)
c.4540A>G
c.12363A>G (p.Leu4121=)
c.2416A>G
c.12315A>G (p.Leu4105=)
n.3558A>G
c.12417A>G (p.Leu4139=)
c.12414A>G (p.Leu4138=)
c.12393A>G (p.Leu4131=)
c.12387A>G (p.Leu4129=)
c.12381A>G (p.Leu4127=)
c.12357A>G (p.Leu4119=)
c.12180A>G (p.Leu4060=)
c.12324A>G (p.Leu4108=)
c.12396A>G (p.Leu4132=)
1g.237784075A>TCA345413056RYR2c.*3455A>T (n.*3455A>T)
c.12351A>T (p.Leu4117Phe)
c.12384A>T (p.Leu4128Phe)
c.4540A>T
c.12363A>T (p.Leu4121Phe)
c.2416A>T
c.12315A>T (p.Leu4105Phe)
n.3558A>T
c.12417A>T (p.Leu4139Phe)
c.12414A>T (p.Leu4138Phe)
c.12393A>T (p.Leu4131Phe)
c.12387A>T (p.Leu4129Phe)
c.12381A>T (p.Leu4127Phe)
c.12357A>T (p.Leu4119Phe)
c.12180A>T (p.Leu4060Phe)
c.12324A>T (p.Leu4108Phe)
c.12396A>T (p.Leu4132Phe)
1g.237784077_237784079delCA1139656705RYR2c.*3457_*3459del (n.*3457_*3459del)
c.12353_12355del (p.Ala4118del)
c.12386_12388del (p.Ala4129del)
c.4542_4544del
c.12365_12367del (p.Ala4122del)
c.2418_2420del
c.12317_12319del (p.Ala4106del)
n.3560_3562del
c.12419_12421del (p.Ala4140del)
c.12416_12418del (p.Ala4139del)
c.12395_12397del (p.Ala4132del)
c.12389_12391del (p.Ala4130del)
c.12383_12385del (p.Ala4128del)
c.12359_12361del (p.Ala4120del)
c.12182_12184del (p.Ala4061del)
c.12326_12328del (p.Ala4109del)
c.12398_12400del (p.Ala4133del)
 ClinVar dbSNP
1g.237784076G>ACA066408RYR2c.*3456G>A (n.*3456G>A)
c.12352G>A (p.Ala4118Thr)
c.12385G>A (p.Ala4129Thr)
c.4541G>A
c.12364G>A (p.Ala4122Thr)
c.2417G>A
c.12316G>A (p.Ala4106Thr)
n.3559G>A
c.12418G>A (p.Ala4140Thr)
c.12415G>A (p.Ala4139Thr)
c.12394G>A (p.Ala4132Thr)
c.12388G>A (p.Ala4130Thr)
c.12382G>A (p.Ala4128Thr)
c.12358G>A (p.Ala4120Thr)
c.12181G>A (p.Ala4061Thr)
c.12325G>A (p.Ala4109Thr)
c.12397G>A (p.Ala4133Thr)
1g.237784076G>CCA345413058RYR2c.*3456G>C (n.*3456G>C)
c.12352G>C (p.Ala4118Pro)
c.12385G>C (p.Ala4129Pro)
c.4541G>C
c.12364G>C (p.Ala4122Pro)
c.2417G>C
c.12316G>C (p.Ala4106Pro)
n.3559G>C
c.12418G>C (p.Ala4140Pro)
c.12415G>C (p.Ala4139Pro)
c.12394G>C (p.Ala4132Pro)
c.12388G>C (p.Ala4130Pro)
c.12382G>C (p.Ala4128Pro)
c.12358G>C (p.Ala4120Pro)
c.12181G>C (p.Ala4061Pro)
c.12325G>C (p.Ala4109Pro)
c.12397G>C (p.Ala4133Pro)
1g.237784076G>TCA345413057RYR2c.*3456G>T (n.*3456G>T)
c.12352G>T (p.Ala4118Ser)
c.12385G>T (p.Ala4129Ser)
c.4541G>T
c.12364G>T (p.Ala4122Ser)
c.2417G>T
c.12316G>T (p.Ala4106Ser)
n.3559G>T
c.12418G>T (p.Ala4140Ser)
c.12415G>T (p.Ala4139Ser)
c.12394G>T (p.Ala4132Ser)
c.12388G>T (p.Ala4130Ser)
c.12382G>T (p.Ala4128Ser)
c.12358G>T (p.Ala4120Ser)
c.12181G>T (p.Ala4061Ser)
c.12325G>T (p.Ala4109Ser)
c.12397G>T (p.Ala4133Ser)
1g.237784077C>ACA345413059RYR2c.*3457C>A (n.*3457C>A)
c.12353C>A (p.Ala4118Glu)
c.12386C>A (p.Ala4129Glu)
c.4542C>A
c.12365C>A (p.Ala4122Glu)
c.2418C>A
c.12317C>A (p.Ala4106Glu)
n.3560C>A
c.12419C>A (p.Ala4140Glu)
c.12416C>A (p.Ala4139Glu)
c.12395C>A (p.Ala4132Glu)
c.12389C>A (p.Ala4130Glu)
c.12383C>A (p.Ala4128Glu)
c.12359C>A (p.Ala4120Glu)
c.12182C>A (p.Ala4061Glu)
c.12326C>A (p.Ala4109Glu)
c.12398C>A (p.Ala4133Glu)
 COSMIC
1g.237784077C>GCA345413061RYR2c.*3457C>G (n.*3457C>G)
c.12353C>G (p.Ala4118Gly)
c.12386C>G (p.Ala4129Gly)
c.4542C>G
c.12365C>G (p.Ala4122Gly)
c.2418C>G
c.12317C>G (p.Ala4106Gly)
n.3560C>G
c.12419C>G (p.Ala4140Gly)
c.12416C>G (p.Ala4139Gly)
c.12395C>G (p.Ala4132Gly)
c.12389C>G (p.Ala4130Gly)
c.12383C>G (p.Ala4128Gly)
c.12359C>G (p.Ala4120Gly)
c.12182C>G (p.Ala4061Gly)
c.12326C>G (p.Ala4109Gly)
c.12398C>G (p.Ala4133Gly)
1g.237784077C>TCA345413060RYR2c.*3457C>T (n.*3457C>T)
c.12353C>T (p.Ala4118Val)
c.12386C>T (p.Ala4129Val)
c.4542C>T
c.12365C>T (p.Ala4122Val)
c.2418C>T
c.12317C>T (p.Ala4106Val)
n.3560C>T
c.12419C>T (p.Ala4140Val)
c.12416C>T (p.Ala4139Val)
c.12395C>T (p.Ala4132Val)
c.12389C>T (p.Ala4130Val)
c.12383C>T (p.Ala4128Val)
c.12359C>T (p.Ala4120Val)
c.12182C>T (p.Ala4061Val)
c.12326C>T (p.Ala4109Val)
c.12398C>T (p.Ala4133Val)
1g.237784078A=CA1143912160RYR2c.*3458A= (n.*3458A=)
c.12354A= (p.Ala4118=)
c.12387A= (p.Ala4129=)
c.4543A=
c.12366A= (p.Ala4122=)
c.2419A=
c.12318A= (p.Ala4106=)
n.3561A=
c.12420A= (p.Ala4140=)
c.12417A= (p.Ala4139=)
c.12396A= (p.Ala4132=)
c.12390A= (p.Ala4130=)
c.12384A= (p.Ala4128=)
c.12360A= (p.Ala4120=)
c.12183A= (p.Ala4061=)
c.12327A= (p.Ala4109=)
c.12399A= (p.Ala4133=)
1g.237784078A>CCA424032061RYR2c.*3458A>C (n.*3458A>C)
c.12354A>C (p.Ala4118=)
c.12387A>C (p.Ala4129=)
c.4543A>C
c.12366A>C (p.Ala4122=)
c.2419A>C
c.12318A>C (p.Ala4106=)
n.3561A>C
c.12420A>C (p.Ala4140=)
c.12417A>C (p.Ala4139=)
c.12396A>C (p.Ala4132=)
c.12390A>C (p.Ala4130=)
c.12384A>C (p.Ala4128=)
c.12360A>C (p.Ala4120=)
c.12183A>C (p.Ala4061=)
c.12327A>C (p.Ala4109=)
c.12399A>C (p.Ala4133=)
1g.237784078A>GCA066410RYR2c.*3458A>G (n.*3458A>G)
c.12354A>G (p.Ala4118=)
c.12387A>G (p.Ala4129=)
c.4543A>G
c.12366A>G (p.Ala4122=)
c.2419A>G
c.12318A>G (p.Ala4106=)
n.3561A>G
c.12420A>G (p.Ala4140=)
c.12417A>G (p.Ala4139=)
c.12396A>G (p.Ala4132=)
c.12390A>G (p.Ala4130=)
c.12384A>G (p.Ala4128=)
c.12360A>G (p.Ala4120=)
c.12183A>G (p.Ala4061=)
c.12327A>G (p.Ala4109=)
c.12399A>G (p.Ala4133=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784078A>TCA424032059RYR2c.*3458A>T (n.*3458A>T)
c.12354A>T (p.Ala4118=)
c.12387A>T (p.Ala4129=)
c.4543A>T
c.12366A>T (p.Ala4122=)
c.2419A>T
c.12318A>T (p.Ala4106=)
n.3561A>T
c.12420A>T (p.Ala4140=)
c.12417A>T (p.Ala4139=)
c.12396A>T (p.Ala4132=)
c.12390A>T (p.Ala4130=)
c.12384A>T (p.Ala4128=)
c.12360A>T (p.Ala4120=)
c.12183A>T (p.Ala4061=)
c.12327A>T (p.Ala4109=)
c.12399A>T (p.Ala4133=)
1g.237784079G>ACA345413062RYR2c.*3459G>A (n.*3459G>A)
c.12355G>A (p.Glu4119Lys)
c.12388G>A (p.Glu4130Lys)
c.4544G>A
c.12367G>A (p.Glu4123Lys)
c.2420G>A
c.12319G>A (p.Glu4107Lys)
n.3562G>A
c.12421G>A (p.Glu4141Lys)
c.12418G>A (p.Glu4140Lys)
c.12397G>A (p.Glu4133Lys)
c.12391G>A (p.Glu4131Lys)
c.12385G>A (p.Glu4129Lys)
c.12361G>A (p.Glu4121Lys)
c.12184G>A (p.Glu4062Lys)
c.12328G>A (p.Glu4110Lys)
c.12400G>A (p.Glu4134Lys)
1g.237784079G>CCA345413063RYR2c.*3459G>C (n.*3459G>C)
c.12355G>C (p.Glu4119Gln)
c.12388G>C (p.Glu4130Gln)
c.4544G>C
c.12367G>C (p.Glu4123Gln)
c.2420G>C
c.12319G>C (p.Glu4107Gln)
n.3562G>C
c.12421G>C (p.Glu4141Gln)
c.12418G>C (p.Glu4140Gln)
c.12397G>C (p.Glu4133Gln)
c.12391G>C (p.Glu4131Gln)
c.12385G>C (p.Glu4129Gln)
c.12361G>C (p.Glu4121Gln)
c.12184G>C (p.Glu4062Gln)
c.12328G>C (p.Glu4110Gln)
c.12400G>C (p.Glu4134Gln)
1g.237784079G>TCA345413064RYR2c.*3459G>T (n.*3459G>T)
c.12355G>T (p.Glu4119Ter)
c.12388G>T (p.Glu4130Ter)
c.4544G>T
c.12367G>T (p.Glu4123Ter)
c.2420G>T
c.12319G>T (p.Glu4107Ter)
n.3562G>T
c.12421G>T (p.Glu4141Ter)
c.12418G>T (p.Glu4140Ter)
c.12397G>T (p.Glu4133Ter)
c.12391G>T (p.Glu4131Ter)
c.12385G>T (p.Glu4129Ter)
c.12361G>T (p.Glu4121Ter)
c.12184G>T (p.Glu4062Ter)
c.12328G>T (p.Glu4110Ter)
c.12400G>T (p.Glu4134Ter)
1g.237784080A>CCA345413065RYR2c.*3460A>C (n.*3460A>C)
c.12356A>C (p.Glu4119Ala)
c.12389A>C (p.Glu4130Ala)
c.4545A>C
c.12368A>C (p.Glu4123Ala)
c.2421A>C
c.12320A>C (p.Glu4107Ala)
n.3563A>C
c.12422A>C (p.Glu4141Ala)
c.12419A>C (p.Glu4140Ala)
c.12398A>C (p.Glu4133Ala)
c.12392A>C (p.Glu4131Ala)
c.12386A>C (p.Glu4129Ala)
c.12362A>C (p.Glu4121Ala)
c.12185A>C (p.Glu4062Ala)
c.12329A>C (p.Glu4110Ala)
c.12401A>C (p.Glu4134Ala)
1g.237784080A>GCA345413066RYR2c.*3460A>G (n.*3460A>G)
c.12356A>G (p.Glu4119Gly)
c.12389A>G (p.Glu4130Gly)
c.4545A>G
c.12368A>G (p.Glu4123Gly)
c.2421A>G
c.12320A>G (p.Glu4107Gly)
n.3563A>G
c.12422A>G (p.Glu4141Gly)
c.12419A>G (p.Glu4140Gly)
c.12398A>G (p.Glu4133Gly)
c.12392A>G (p.Glu4131Gly)
c.12386A>G (p.Glu4129Gly)
c.12362A>G (p.Glu4121Gly)
c.12185A>G (p.Glu4062Gly)
c.12329A>G (p.Glu4110Gly)
c.12401A>G (p.Glu4134Gly)
 ClinVar
1g.237784080A>TCA345413067RYR2c.*3460A>T (n.*3460A>T)
c.12356A>T (p.Glu4119Val)
c.12389A>T (p.Glu4130Val)
c.4545A>T
c.12368A>T (p.Glu4123Val)
c.2421A>T
c.12320A>T (p.Glu4107Val)
n.3563A>T
c.12422A>T (p.Glu4141Val)
c.12419A>T (p.Glu4140Val)
c.12398A>T (p.Glu4133Val)
c.12392A>T (p.Glu4131Val)
c.12386A>T (p.Glu4129Val)
c.12362A>T (p.Glu4121Val)
c.12185A>T (p.Glu4062Val)
c.12329A>T (p.Glu4110Val)
c.12401A>T (p.Glu4134Val)
1g.237784081G>ACA424032069RYR2c.*3461G>A (n.*3461G>A)
c.12357G>A (p.Glu4119=)
c.12390G>A (p.Glu4130=)
c.4546G>A
c.12369G>A (p.Glu4123=)
c.2422G>A
c.12321G>A (p.Glu4107=)
n.3564G>A
c.12423G>A (p.Glu4141=)
c.12420G>A (p.Glu4140=)
c.12399G>A (p.Glu4133=)
c.12393G>A (p.Glu4131=)
c.12387G>A (p.Glu4129=)
c.12363G>A (p.Glu4121=)
c.12186G>A (p.Glu4062=)
c.12330G>A (p.Glu4110=)
c.12402G>A (p.Glu4134=)
1g.237784081G>CCA085173RYR2c.*3461G>C (n.*3461G>C)
c.12357G>C (p.Glu4119Asp)
c.12390G>C (p.Glu4130Asp)
c.4546G>C
c.12369G>C (p.Glu4123Asp)
c.2422G>C
c.12321G>C (p.Glu4107Asp)
n.3564G>C
c.12423G>C (p.Glu4141Asp)
c.12420G>C (p.Glu4140Asp)
c.12399G>C (p.Glu4133Asp)
c.12393G>C (p.Glu4131Asp)
c.12387G>C (p.Glu4129Asp)
c.12363G>C (p.Glu4121Asp)
c.12186G>C (p.Glu4062Asp)
c.12330G>C (p.Glu4110Asp)
c.12402G>C (p.Glu4134Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237784081G=CA2487482375RYR2c.*3461G= (n.*3461G=)
c.12357G= (p.Glu4119=)
c.12390G= (p.Glu4130=)
c.4546G=
c.12369G= (p.Glu4123=)
c.2422G=
c.12321G= (p.Glu4107=)
n.3564G=
c.12423G= (p.Glu4141=)
c.12420G= (p.Glu4140=)
c.12399G= (p.Glu4133=)
c.12393G= (p.Glu4131=)
c.12387G= (p.Glu4129=)
c.12363G= (p.Glu4121=)
c.12186G= (p.Glu4062=)
c.12330G= (p.Glu4110=)
c.12402G= (p.Glu4134=)
1g.237784081G>TCA345413068RYR2c.*3461G>T (n.*3461G>T)
c.12357G>T (p.Glu4119Asp)
c.12390G>T (p.Glu4130Asp)
c.4546G>T
c.12369G>T (p.Glu4123Asp)
c.2422G>T
c.12321G>T (p.Glu4107Asp)
n.3564G>T
c.12423G>T (p.Glu4141Asp)
c.12420G>T (p.Glu4140Asp)
c.12399G>T (p.Glu4133Asp)
c.12393G>T (p.Glu4131Asp)
c.12387G>T (p.Glu4129Asp)
c.12363G>T (p.Glu4121Asp)
c.12186G>T (p.Glu4062Asp)
c.12330G>T (p.Glu4110Asp)
c.12402G>T (p.Glu4134Asp)
 ClinVar dbSNP
1g.237784082A>CCA345413069RYR2c.*3462A>C (n.*3462A>C)
c.12358A>C (p.Ser4120Arg)
c.12391A>C (p.Ser4131Arg)
c.4547A>C
c.12370A>C (p.Ser4124Arg)
c.2423A>C
c.12322A>C (p.Ser4108Arg)
n.3565A>C
c.12424A>C (p.Ser4142Arg)
c.12421A>C (p.Ser4141Arg)
c.12400A>C (p.Ser4134Arg)
c.12394A>C (p.Ser4132Arg)
c.12388A>C (p.Ser4130Arg)
c.12364A>C (p.Ser4122Arg)
c.12187A>C (p.Ser4063Arg)
c.12331A>C (p.Ser4111Arg)
c.12403A>C (p.Ser4135Arg)
1g.237784082A>GCA345413070RYR2c.*3462A>G (n.*3462A>G)
c.12358A>G (p.Ser4120Gly)
c.12391A>G (p.Ser4131Gly)
c.4547A>G
c.12370A>G (p.Ser4124Gly)
c.2423A>G
c.12322A>G (p.Ser4108Gly)
n.3565A>G
c.12424A>G (p.Ser4142Gly)
c.12421A>G (p.Ser4141Gly)
c.12400A>G (p.Ser4134Gly)
c.12394A>G (p.Ser4132Gly)
c.12388A>G (p.Ser4130Gly)
c.12364A>G (p.Ser4122Gly)
c.12187A>G (p.Ser4063Gly)
c.12331A>G (p.Ser4111Gly)
c.12403A>G (p.Ser4135Gly)
1g.237784082A>TCA345413071RYR2c.*3462A>T (n.*3462A>T)
c.12358A>T (p.Ser4120Cys)
c.12391A>T (p.Ser4131Cys)
c.4547A>T
c.12370A>T (p.Ser4124Cys)
c.2423A>T
c.12322A>T (p.Ser4108Cys)
n.3565A>T
c.12424A>T (p.Ser4142Cys)
c.12421A>T (p.Ser4141Cys)
c.12400A>T (p.Ser4134Cys)
c.12394A>T (p.Ser4132Cys)
c.12388A>T (p.Ser4130Cys)
c.12364A>T (p.Ser4122Cys)
c.12187A>T (p.Ser4063Cys)
c.12331A>T (p.Ser4111Cys)
c.12403A>T (p.Ser4135Cys)
1g.237784083G>ACA345413072RYR2c.*3463G>A (n.*3463G>A)
c.12359G>A (p.Ser4120Asn)
c.12392G>A (p.Ser4131Asn)
c.4548G>A
c.12371G>A (p.Ser4124Asn)
c.2424G>A
c.12323G>A (p.Ser4108Asn)
n.3566G>A
c.12425G>A (p.Ser4142Asn)
c.12422G>A (p.Ser4141Asn)
c.12401G>A (p.Ser4134Asn)
c.12395G>A (p.Ser4132Asn)
c.12389G>A (p.Ser4130Asn)
c.12365G>A (p.Ser4122Asn)
c.12188G>A (p.Ser4063Asn)
c.12332G>A (p.Ser4111Asn)
c.12404G>A (p.Ser4135Asn)
1g.237784083G>CCA345413073RYR2c.*3463G>C (n.*3463G>C)
c.12359G>C (p.Ser4120Thr)
c.12392G>C (p.Ser4131Thr)
c.4548G>C
c.12371G>C (p.Ser4124Thr)
c.2424G>C
c.12323G>C (p.Ser4108Thr)
n.3566G>C
c.12425G>C (p.Ser4142Thr)
c.12422G>C (p.Ser4141Thr)
c.12401G>C (p.Ser4134Thr)
c.12395G>C (p.Ser4132Thr)
c.12389G>C (p.Ser4130Thr)
c.12365G>C (p.Ser4122Thr)
c.12188G>C (p.Ser4063Thr)
c.12332G>C (p.Ser4111Thr)
c.12404G>C (p.Ser4135Thr)
 dbSNP
1g.237784083G=CA2487482376RYR2c.*3463G= (n.*3463G=)
c.12359G= (p.Ser4120=)
c.12392G= (p.Ser4131=)
c.4548G=
c.12371G= (p.Ser4124=)
c.2424G=
c.12323G= (p.Ser4108=)
n.3566G=
c.12425G= (p.Ser4142=)
c.12422G= (p.Ser4141=)
c.12401G= (p.Ser4134=)
c.12395G= (p.Ser4132=)
c.12389G= (p.Ser4130=)
c.12365G= (p.Ser4122=)
c.12188G= (p.Ser4063=)
c.12332G= (p.Ser4111=)
c.12404G= (p.Ser4135=)
1g.237784083G>TCA345413074RYR2c.*3463G>T (n.*3463G>T)
c.12359G>T (p.Ser4120Ile)
c.12392G>T (p.Ser4131Ile)
c.4548G>T
c.12371G>T (p.Ser4124Ile)
c.2424G>T
c.12323G>T (p.Ser4108Ile)
n.3566G>T
c.12425G>T (p.Ser4142Ile)
c.12422G>T (p.Ser4141Ile)
c.12401G>T (p.Ser4134Ile)
c.12395G>T (p.Ser4132Ile)
c.12389G>T (p.Ser4130Ile)
c.12365G>T (p.Ser4122Ile)
c.12188G>T (p.Ser4063Ile)
c.12332G>T (p.Ser4111Ile)
c.12404G>T (p.Ser4135Ile)
1g.237784084C>ACA007482RYR2c.*3464C>A (n.*3464C>A)
c.12360C>A (p.Ser4120Arg)
c.12393C>A (p.Ser4131Arg)
c.4549C>A
c.12372C>A (p.Ser4124Arg)
c.2425C>A
c.12324C>A (p.Ser4108Arg)
n.3567C>A
c.12426C>A (p.Ser4142Arg)
c.12423C>A (p.Ser4141Arg)
c.12402C>A (p.Ser4134Arg)
c.12396C>A (p.Ser4132Arg)
c.12390C>A (p.Ser4130Arg)
c.12366C>A (p.Ser4122Arg)
c.12189C>A (p.Ser4063Arg)
c.12333C>A (p.Ser4111Arg)
c.12405C>A (p.Ser4135Arg)
 ClinVar dbSNP
1g.237784084C=CA2487482377RYR2c.*3464C= (n.*3464C=)
c.12360C= (p.Ser4120=)
c.12393C= (p.Ser4131=)
c.4549C=
c.12372C= (p.Ser4124=)
c.2425C=
c.12324C= (p.Ser4108=)
n.3567C=
c.12426C= (p.Ser4142=)
c.12423C= (p.Ser4141=)
c.12402C= (p.Ser4134=)
c.12396C= (p.Ser4132=)
c.12390C= (p.Ser4130=)
c.12366C= (p.Ser4122=)
c.12189C= (p.Ser4063=)
c.12333C= (p.Ser4111=)
c.12405C= (p.Ser4135=)
1g.237784084C>GCA345413075RYR2c.*3464C>G (n.*3464C>G)
c.12360C>G (p.Ser4120Arg)
c.12393C>G (p.Ser4131Arg)
c.4549C>G
c.12372C>G (p.Ser4124Arg)
c.2425C>G
c.12324C>G (p.Ser4108Arg)
n.3567C>G
c.12426C>G (p.Ser4142Arg)
c.12423C>G (p.Ser4141Arg)
c.12402C>G (p.Ser4134Arg)
c.12396C>G (p.Ser4132Arg)
c.12390C>G (p.Ser4130Arg)
c.12366C>G (p.Ser4122Arg)
c.12189C>G (p.Ser4063Arg)
c.12333C>G (p.Ser4111Arg)
c.12405C>G (p.Ser4135Arg)
1g.237784084C>TCA085174RYR2c.*3464C>T (n.*3464C>T)
c.12360C>T (p.Ser4120=)
c.12393C>T (p.Ser4131=)
c.4549C>T
c.12372C>T (p.Ser4124=)
c.2425C>T
c.12324C>T (p.Ser4108=)
n.3567C>T
c.12426C>T (p.Ser4142=)
c.12423C>T (p.Ser4141=)
c.12402C>T (p.Ser4134=)
c.12396C>T (p.Ser4132=)
c.12390C>T (p.Ser4130=)
c.12366C>T (p.Ser4122=)
c.12189C>T (p.Ser4063=)
c.12333C>T (p.Ser4111=)
c.12405C>T (p.Ser4135=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.237784085G>ACA085176RYR2c.*3465G>A (n.*3465G>A)
c.12361G>A (p.Val4121Ile)
c.12394G>A (p.Val4132Ile)
c.4550G>A
c.12373G>A (p.Val4125Ile)
c.2426G>A
c.12325G>A (p.Val4109Ile)
n.3568G>A
c.12427G>A (p.Val4143Ile)
c.12424G>A (p.Val4142Ile)
c.12403G>A (p.Val4135Ile)
c.12397G>A (p.Val4133Ile)
c.12391G>A (p.Val4131Ile)
c.12367G>A (p.Val4123Ile)
c.12190G>A (p.Val4064Ile)
c.12334G>A (p.Val4112Ile)
c.12406G>A (p.Val4136Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.237784085G>CCA345413076RYR2c.*3465G>C (n.*3465G>C)
c.12361G>C (p.Val4121Leu)
c.12394G>C (p.Val4132Leu)
c.4550G>C
c.12373G>C (p.Val4125Leu)
c.2426G>C
c.12325G>C (p.Val4109Leu)
n.3568G>C
c.12427G>C (p.Val4143Leu)
c.12424G>C (p.Val4142Leu)
c.12403G>C (p.Val4135Leu)
c.12397G>C (p.Val4133Leu)
c.12391G>C (p.Val4131Leu)
c.12367G>C (p.Val4123Leu)
c.12190G>C (p.Val4064Leu)
c.12334G>C (p.Val4112Leu)
c.12406G>C (p.Val4136Leu)
1g.237784085G=CA2487482378RYR2c.*3465G= (n.*3465G=)
c.12361G= (p.Val4121=)
c.12394G= (p.Val4132=)
c.4550G=
c.12373G= (p.Val4125=)
c.2426G=
c.12325G= (p.Val4109=)
n.3568G=
c.12427G= (p.Val4143=)
c.12424G= (p.Val4142=)
c.12403G= (p.Val4135=)
c.12397G= (p.Val4133=)
c.12391G= (p.Val4131=)
c.12367G= (p.Val4123=)
c.12190G= (p.Val4064=)
c.12334G= (p.Val4112=)
c.12406G= (p.Val4136=)
1g.237784085G>TCA007493RYR2c.*3465G>T (n.*3465G>T)
c.12361G>T (p.Val4121Phe)
c.12394G>T (p.Val4132Phe)
c.4550G>T
c.12373G>T (p.Val4125Phe)
c.2426G>T
c.12325G>T (p.Val4109Phe)
n.3568G>T
c.12427G>T (p.Val4143Phe)
c.12424G>T (p.Val4142Phe)
c.12403G>T (p.Val4135Phe)
c.12397G>T (p.Val4133Phe)
c.12391G>T (p.Val4131Phe)
c.12367G>T (p.Val4123Phe)
c.12190G>T (p.Val4064Phe)
c.12334G>T (p.Val4112Phe)
c.12406G>T (p.Val4136Phe)
 ClinVar dbSNP COSMIC COSMIC
1g.237784086T>ACA345413077RYR2c.*3466T>A (n.*3466T>A)
c.12362T>A (p.Val4121Asp)
c.12395T>A (p.Val4132Asp)
c.4551T>A
c.12374T>A (p.Val4125Asp)
c.2427T>A
c.12326T>A (p.Val4109Asp)
n.3569T>A
c.12428T>A (p.Val4143Asp)
c.12425T>A (p.Val4142Asp)
c.12404T>A (p.Val4135Asp)
c.12398T>A (p.Val4133Asp)
c.12392T>A (p.Val4131Asp)
c.12368T>A (p.Val4123Asp)
c.12191T>A (p.Val4064Asp)
c.12335T>A (p.Val4112Asp)
c.12407T>A (p.Val4136Asp)
1g.237784086T>CCA345413078RYR2c.*3466T>C (n.*3466T>C)
c.12362T>C (p.Val4121Ala)
c.12395T>C (p.Val4132Ala)
c.4551T>C
c.12374T>C (p.Val4125Ala)
c.2427T>C
c.12326T>C (p.Val4109Ala)
n.3569T>C
c.12428T>C (p.Val4143Ala)
c.12425T>C (p.Val4142Ala)
c.12404T>C (p.Val4135Ala)
c.12398T>C (p.Val4133Ala)
c.12392T>C (p.Val4131Ala)
c.12368T>C (p.Val4123Ala)
c.12191T>C (p.Val4064Ala)
c.12335T>C (p.Val4112Ala)
c.12407T>C (p.Val4136Ala)
 gnomAD v4
1g.237784086T>GCA345413079RYR2c.*3466T>G (n.*3466T>G)
c.12362T>G (p.Val4121Gly)
c.12395T>G (p.Val4132Gly)
c.4551T>G
c.12374T>G (p.Val4125Gly)
c.2427T>G
c.12326T>G (p.Val4109Gly)
n.3569T>G
c.12428T>G (p.Val4143Gly)
c.12425T>G (p.Val4142Gly)
c.12404T>G (p.Val4135Gly)
c.12398T>G (p.Val4133Gly)
c.12392T>G (p.Val4131Gly)
c.12368T>G (p.Val4123Gly)
c.12191T>G (p.Val4064Gly)
c.12335T>G (p.Val4112Gly)
c.12407T>G (p.Val4136Gly)
1g.237784087C>ACA424032084RYR2c.*3467C>A (n.*3467C>A)
c.12363C>A (p.Val4121=)
c.12396C>A (p.Val4132=)
c.4552C>A
c.12375C>A (p.Val4125=)
c.2428C>A
c.12327C>A (p.Val4109=)
n.3570C>A
c.12429C>A (p.Val4143=)
c.12426C>A (p.Val4142=)
c.12405C>A (p.Val4135=)
c.12399C>A (p.Val4133=)
c.12393C>A (p.Val4131=)
c.12369C>A (p.Val4123=)
c.12192C>A (p.Val4064=)
c.12336C>A (p.Val4112=)
c.12408C>A (p.Val4136=)
1g.237784087C=CA2487482379RYR2c.*3467C= (n.*3467C=)
c.12363C= (p.Val4121=)
c.12396C= (p.Val4132=)
c.4552C=
c.12375C= (p.Val4125=)
c.2428C=
c.12327C= (p.Val4109=)
n.3570C=
c.12429C= (p.Val4143=)
c.12426C= (p.Val4142=)
c.12405C= (p.Val4135=)
c.12399C= (p.Val4133=)
c.12393C= (p.Val4131=)
c.12369C= (p.Val4123=)
c.12192C= (p.Val4064=)
c.12336C= (p.Val4112=)
c.12408C= (p.Val4136=)
1g.237784087C>GCA424032085RYR2c.*3467C>G (n.*3467C>G)
c.12363C>G (p.Val4121=)
c.12396C>G (p.Val4132=)
c.4552C>G
c.12375C>G (p.Val4125=)
c.2428C>G
c.12327C>G (p.Val4109=)
n.3570C>G
c.12429C>G (p.Val4143=)
c.12426C>G (p.Val4142=)
c.12405C>G (p.Val4135=)
c.12399C>G (p.Val4133=)
c.12393C>G (p.Val4131=)
c.12369C>G (p.Val4123=)
c.12192C>G (p.Val4064=)
c.12336C>G (p.Val4112=)
c.12408C>G (p.Val4136=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.237784087C>TCA424032086RYR2c.*3467C>T (n.*3467C>T)
c.12363C>T (p.Val4121=)
c.12396C>T (p.Val4132=)
c.4552C>T
c.12375C>T (p.Val4125=)
c.2428C>T
c.12327C>T (p.Val4109=)
n.3570C>T
c.12429C>T (p.Val4143=)
c.12426C>T (p.Val4142=)
c.12405C>T (p.Val4135=)
c.12399C>T (p.Val4133=)
c.12393C>T (p.Val4131=)
c.12369C>T (p.Val4123=)
c.12192C>T (p.Val4064=)
c.12336C>T (p.Val4112=)
c.12408C>T (p.Val4136=)
 gnomAD v4
1g.237784088C>ACA345413080RYR2c.*3468C>A (n.*3468C>A)
c.12364C>A (p.Leu4122Met)
c.12397C>A (p.Leu4133Met)
c.4553C>A
c.12376C>A (p.Leu4126Met)
c.2429C>A
c.12328C>A (p.Leu4110Met)
n.3571C>A
c.12430C>A (p.Leu4144Met)
c.12427C>A (p.Leu4143Met)
c.12406C>A (p.Leu4136Met)
c.12400C>A (p.Leu4134Met)
c.12394C>A (p.Leu4132Met)
c.12370C>A (p.Leu4124Met)
c.12193C>A (p.Leu4065Met)
c.12337C>A (p.Leu4113Met)
c.12409C>A (p.Leu4137Met)
1g.237784088C=CA2487482380RYR2c.*3468C= (n.*3468C=)
c.12364C= (p.Leu4122=)
c.12397C= (p.Leu4133=)
c.4553C=
c.12376C= (p.Leu4126=)
c.2429C=
c.12328C= (p.Leu4110=)
n.3571C=
c.12430C= (p.Leu4144=)
c.12427C= (p.Leu4143=)
c.12406C= (p.Leu4136=)
c.12400C= (p.Leu4134=)
c.12394C= (p.Leu4132=)
c.12370C= (p.Leu4124=)
c.12193C= (p.Leu4065=)
c.12337C= (p.Leu4113=)
c.12409C= (p.Leu4137=)
1g.237784088C>GCA345413081RYR2c.*3468C>G (n.*3468C>G)
c.12364C>G (p.Leu4122Val)
c.12397C>G (p.Leu4133Val)
c.4553C>G
c.12376C>G (p.Leu4126Val)
c.2429C>G
c.12328C>G (p.Leu4110Val)
n.3571C>G
c.12430C>G (p.Leu4144Val)
c.12427C>G (p.Leu4143Val)
c.12406C>G (p.Leu4136Val)
c.12400C>G (p.Leu4134Val)
c.12394C>G (p.Leu4132Val)
c.12370C>G (p.Leu4124Val)
c.12193C>G (p.Leu4065Val)
c.12337C>G (p.Leu4113Val)
c.12409C>G (p.Leu4137Val)
1g.237784088C>TCA39827544RYR2c.*3468C>T (n.*3468C>T)
c.12364C>T (p.Leu4122=)
c.12397C>T (p.Leu4133=)
c.4553C>T
c.12376C>T (p.Leu4126=)
c.2429C>T
c.12328C>T (p.Leu4110=)
n.3571C>T
c.12430C>T (p.Leu4144=)
c.12427C>T (p.Leu4143=)
c.12406C>T (p.Leu4136=)
c.12400C>T (p.Leu4134=)
c.12394C>T (p.Leu4132=)
c.12370C>T (p.Leu4124=)
c.12193C>T (p.Leu4065=)
c.12337C>T (p.Leu4113=)
c.12409C>T (p.Leu4137=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.237784089T>ACA345413082RYR2c.*3469T>A (n.*3469T>A)
c.12365T>A (p.Leu4122Gln)
c.12398T>A (p.Leu4133Gln)
c.4554T>A
c.12377T>A (p.Leu4126Gln)
c.2430T>A
c.12329T>A (p.Leu4110Gln)
n.3572T>A
c.12431T>A (p.Leu4144Gln)
c.12428T>A (p.Leu4143Gln)
c.12407T>A (p.Leu4136Gln)
c.12401T>A (p.Leu4134Gln)
c.12395T>A (p.Leu4132Gln)
c.12371T>A (p.Leu4124Gln)
c.12194T>A (p.Leu4065Gln)
c.12338T>A (p.Leu4113Gln)
c.12410T>A (p.Leu4137Gln)
1g.237784089T>CCA345413083RYR2c.*3469T>C (n.*3469T>C)
c.12365T>C (p.Leu4122Pro)
c.12398T>C (p.Leu4133Pro)
c.4554T>C
c.12377T>C (p.Leu4126Pro)
c.2430T>C
c.12329T>C (p.Leu4110Pro)
n.3572T>C
c.12431T>C (p.Leu4144Pro)
c.12428T>C (p.Leu4143Pro)
c.12407T>C (p.Leu4136Pro)
c.12401T>C (p.Leu4134Pro)
c.12395T>C (p.Leu4132Pro)
c.12371T>C (p.Leu4124Pro)
c.12194T>C (p.Leu4065Pro)
c.12338T>C (p.Leu4113Pro)
c.12410T>C (p.Leu4137Pro)
1g.237784089T>GCA345413084RYR2c.*3469T>G (n.*3469T>G)
c.12365T>G (p.Leu4122Arg)
c.12398T>G (p.Leu4133Arg)
c.4554T>G
c.12377T>G (p.Leu4126Arg)
c.2430T>G
c.12329T>G (p.Leu4110Arg)
n.3572T>G
c.12431T>G (p.Leu4144Arg)
c.12428T>G (p.Leu4143Arg)
c.12407T>G (p.Leu4136Arg)
c.12401T>G (p.Leu4134Arg)
c.12395T>G (p.Leu4132Arg)
c.12371T>G (p.Leu4124Arg)
c.12194T>G (p.Leu4065Arg)
c.12338T>G (p.Leu4113Arg)
c.12410T>G (p.Leu4137Arg)
 ClinVar dbSNP
1g.237784089T=CA2487482381RYR2c.*3469T= (n.*3469T=)
c.12365T= (p.Leu4122=)
c.12398T= (p.Leu4133=)
c.4554T=
c.12377T= (p.Leu4126=)
c.2430T=
c.12329T= (p.Leu4110=)
n.3572T=
c.12431T= (p.Leu4144=)
c.12428T= (p.Leu4143=)
c.12407T= (p.Leu4136=)
c.12401T= (p.Leu4134=)
c.12395T= (p.Leu4132=)
c.12371T= (p.Leu4124=)
c.12194T= (p.Leu4065=)
c.12338T= (p.Leu4113=)
c.12410T= (p.Leu4137=)
1g.237784090G>ACA424032091RYR2c.*3470G>A (n.*3470G>A)
c.12366G>A (p.Leu4122=)
c.12399G>A (p.Leu4133=)
c.4555G>A
c.12378G>A (p.Leu4126=)
c.2431G>A
c.12330G>A (p.Leu4110=)
n.3573G>A
c.12432G>A (p.Leu4144=)
c.12429G>A (p.Leu4143=)
c.12408G>A (p.Leu4136=)
c.12402G>A (p.Leu4134=)
c.12396G>A (p.Leu4132=)
c.12372G>A (p.Leu4124=)
c.12195G>A (p.Leu4065=)
c.12339G>A (p.Leu4113=)
c.12411G>A (p.Leu4137=)
 ClinVar COSMIC COSMIC
1g.237784090G>CCA424032092RYR2c.*3470G>C (n.*3470G>C)
c.12366G>C (p.Leu4122=)
c.12399G>C (p.Leu4133=)
c.4555G>C
c.12378G>C (p.Leu4126=)
c.2431G>C
c.12330G>C (p.Leu4110=)
n.3573G>C
c.12432G>C (p.Leu4144=)
c.12429G>C (p.Leu4143=)
c.12408G>C (p.Leu4136=)
c.12402G>C (p.Leu4134=)
c.12396G>C (p.Leu4132=)
c.12372G>C (p.Leu4124=)
c.12195G>C (p.Leu4065=)
c.12339G>C (p.Leu4113=)
c.12411G>C (p.Leu4137=)
 ClinVar dbSNP
1g.237784090G=CA2487482382RYR2c.*3470G= (n.*3470G=)
c.12366G= (p.Leu4122=)
c.12399G= (p.Leu4133=)
c.4555G=
c.12378G= (p.Leu4126=)
c.2431G=
c.12330G= (p.Leu4110=)
n.3573G=
c.12432G= (p.Leu4144=)
c.12429G= (p.Leu4143=)
c.12408G= (p.Leu4136=)
c.12402G= (p.Leu4134=)
c.12396G= (p.Leu4132=)
c.12372G= (p.Leu4124=)
c.12195G= (p.Leu4065=)
c.12339G= (p.Leu4113=)
c.12411G= (p.Leu4137=)
1g.237784090G>TCA39827547RYR2c.*3470G>T (n.*3470G>T)
c.12366G>T (p.Leu4122=)
c.12399G>T (p.Leu4133=)
c.4555G>T
c.12378G>T (p.Leu4126=)
c.2431G>T
c.12330G>T (p.Leu4110=)
n.3573G>T
c.12432G>T (p.Leu4144=)
c.12429G>T (p.Leu4143=)
c.12408G>T (p.Leu4136=)
c.12402G>T (p.Leu4134=)
c.12396G>T (p.Leu4132=)
c.12372G>T (p.Leu4124=)
c.12195G>T (p.Leu4065=)
c.12339G>T (p.Leu4113=)
c.12411G>T (p.Leu4137=)
 dbSNP
1g.237784091A=CA1148225104RYR2c.*3471A= (n.*3471A=)
c.12367A= (p.Asn4123=)
c.12400A= (p.Asn4134=)
c.4556A=
c.12379A= (p.Asn4127=)
c.2432A=
c.12331A= (p.Asn4111=)
n.3574A=
c.12433A= (p.Asn4145=)
c.12430A= (p.Asn4144=)
c.12409A= (p.Asn4137=)
c.12403A= (p.Asn4135=)
c.12397A= (p.Asn4133=)
c.12373A= (p.Asn4125=)
c.12196A= (p.Asn4066=)
c.12340A= (p.Asn4114=)
c.12412A= (p.Asn4138=)
1g.237784091A>CCA007502RYR2c.*3471A>C (n.*3471A>C)
c.12367A>C (p.Asn4123His)
c.12400A>C (p.Asn4134His)
c.4556A>C
c.12379A>C (p.Asn4127His)
c.2432A>C
c.12331A>C (p.Asn4111His)
n.3574A>C
c.12433A>C (p.Asn4145His)
c.12430A>C (p.Asn4144His)
c.12409A>C (p.Asn4137His)
c.12403A>C (p.Asn4135His)
c.12397A>C (p.Asn4133His)
c.12373A>C (p.Asn4125His)
c.12196A>C (p.Asn4066His)
c.12340A>C (p.Asn4114His)
c.12412A>C (p.Asn4138His)
 ClinVar dbSNP
1g.237784091A>GCA345413086RYR2c.*3471A>G (n.*3471A>G)
c.12367A>G (p.Asn4123Asp)
c.12400A>G (p.Asn4134Asp)
c.4556A>G
c.12379A>G (p.Asn4127Asp)
c.2432A>G
c.12331A>G (p.Asn4111Asp)
n.3574A>G
c.12433A>G (p.Asn4145Asp)
c.12430A>G (p.Asn4144Asp)
c.12409A>G (p.Asn4137Asp)
c.12403A>G (p.Asn4135Asp)
c.12397A>G (p.Asn4133Asp)
c.12373A>G (p.Asn4125Asp)
c.12196A>G (p.Asn4066Asp)
c.12340A>G (p.Asn4114Asp)
c.12412A>G (p.Asn4138Asp)
1g.237784091A>TCA345413085RYR2c.*3471A>T (n.*3471A>T)
c.12367A>T (p.Asn4123Tyr)
c.12400A>T (p.Asn4134Tyr)
c.4556A>T
c.12379A>T (p.Asn4127Tyr)
c.2432A>T
c.12331A>T (p.Asn4111Tyr)
n.3574A>T
c.12433A>T (p.Asn4145Tyr)
c.12430A>T (p.Asn4144Tyr)
c.12409A>T (p.Asn4137Tyr)
c.12403A>T (p.Asn4135Tyr)
c.12397A>T (p.Asn4133Tyr)
c.12373A>T (p.Asn4125Tyr)
c.12196A>T (p.Asn4066Tyr)
c.12340A>T (p.Asn4114Tyr)
c.12412A>T (p.Asn4138Tyr)
1g.237784092A>CCA345413087RYR2c.*3472A>C (n.*3472A>C)
c.12368A>C (p.Asn4123Thr)
c.12401A>C (p.Asn4134Thr)
c.4557A>C
c.12380A>C (p.Asn4127Thr)
c.2433A>C
c.12332A>C (p.Asn4111Thr)
n.3575A>C
c.12434A>C (p.Asn4145Thr)
c.12431A>C (p.Asn4144Thr)
c.12410A>C (p.Asn4137Thr)
c.12404A>C (p.Asn4135Thr)
c.12398A>C (p.Asn4133Thr)
c.12374A>C (p.Asn4125Thr)
c.12197A>C (p.Asn4066Thr)
c.12341A>C (p.Asn4114Thr)
c.12413A>C (p.Asn4138Thr)
1g.237784092A>GCA345413088RYR2c.*3472A>G (n.*3472A>G)
c.12368A>G (p.Asn4123Ser)
c.12401A>G (p.Asn4134Ser)
c.4557A>G
c.12380A>G (p.Asn4127Ser)
c.2433A>G
c.12332A>G (p.Asn4111Ser)
n.3575A>G
c.12434A>G (p.Asn4145Ser)
c.12431A>G (p.Asn4144Ser)
c.12410A>G (p.Asn4137Ser)
c.12404A>G (p.Asn4135Ser)
c.12398A>G (p.Asn4133Ser)
c.12374A>G (p.Asn4125Ser)
c.12197A>G (p.Asn4066Ser)
c.12341A>G (p.Asn4114Ser)
c.12413A>G (p.Asn4138Ser)
1g.237784092A>TCA345413089RYR2c.*3472A>T (n.*3472A>T)
c.12368A>T (p.Asn4123Ile)
c.12401A>T (p.Asn4134Ile)
c.4557A>T
c.12380A>T (p.Asn4127Ile)
c.2433A>T
c.12332A>T (p.Asn4111Ile)
n.3575A>T
c.12434A>T (p.Asn4145Ile)
c.12431A>T (p.Asn4144Ile)
c.12410A>T (p.Asn4137Ile)
c.12404A>T (p.Asn4135Ile)
c.12398A>T (p.Asn4133Ile)
c.12374A>T (p.Asn4125Ile)
c.12197A>T (p.Asn4066Ile)
c.12341A>T (p.Asn4114Ile)
c.12413A>T (p.Asn4138Ile)
1g.237784093T>ACA345413090RYR2c.*3473T>A (n.*3473T>A)
c.12369T>A (p.Asn4123Lys)
c.12402T>A (p.Asn4134Lys)
c.4558T>A
c.12381T>A (p.Asn4127Lys)
c.2434T>A
c.12333T>A (p.Asn4111Lys)
n.3576T>A
c.12435T>A (p.Asn4145Lys)
c.12432T>A (p.Asn4144Lys)
c.12411T>A (p.Asn4137Lys)
c.12405T>A (p.Asn4135Lys)
c.12399T>A (p.Asn4133Lys)
c.12375T>A (p.Asn4125Lys)
c.12198T>A (p.Asn4066Lys)
c.12342T>A (p.Asn4114Lys)
c.12414T>A (p.Asn4138Lys)
1g.237784093T>CCA424032099RYR2c.*3473T>C (n.*3473T>C)
c.12369T>C (p.Asn4123=)
c.12402T>C (p.Asn4134=)
c.4558T>C
c.12381T>C (p.Asn4127=)
c.2434T>C
c.12333T>C (p.Asn4111=)
n.3576T>C
c.12435T>C (p.Asn4145=)
c.12432T>C (p.Asn4144=)
c.12411T>C (p.Asn4137=)
c.12405T>C (p.Asn4135=)
c.12399T>C (p.Asn4133=)
c.12375T>C (p.Asn4125=)
c.12198T>C (p.Asn4066=)
c.12342T>C (p.Asn4114=)
c.12414T>C (p.Asn4138=)
1g.237784093T>GCA345413091RYR2c.*3473T>G (n.*3473T>G)
c.12369T>G (p.Asn4123Lys)
c.12402T>G (p.Asn4134Lys)
c.4558T>G
c.12381T>G (p.Asn4127Lys)
c.2434T>G
c.12333T>G (p.Asn4111Lys)
n.3576T>G
c.12435T>G (p.Asn4145Lys)
c.12432T>G (p.Asn4144Lys)
c.12411T>G (p.Asn4137Lys)
c.12405T>G (p.Asn4135Lys)
c.12399T>G (p.Asn4133Lys)
c.12375T>G (p.Asn4125Lys)
c.12198T>G (p.Asn4066Lys)
c.12342T>G (p.Asn4114Lys)
c.12414T>G (p.Asn4138Lys)
1g.237784094T>ACA345413092RYR2c.*3474T>A (n.*3474T>A)
c.12370T>A (p.Tyr4124Asn)
c.12403T>A (p.Tyr4135Asn)
c.4559T>A
c.12382T>A (p.Tyr4128Asn)
c.2435T>A
c.12334T>A (p.Tyr4112Asn)
n.3577T>A
c.12436T>A (p.Tyr4146Asn)
c.12433T>A (p.Tyr4145Asn)
c.12412T>A (p.Tyr4138Asn)
c.12406T>A (p.Tyr4136Asn)
c.12400T>A (p.Tyr4134Asn)
c.12376T>A (p.Tyr4126Asn)
c.12199T>A (p.Tyr4067Asn)
c.12343T>A (p.Tyr4115Asn)
c.12415T>A (p.Tyr4139Asn)
1g.237784094T>CCA345413093RYR2c.*3474T>C (n.*3474T>C)
c.12370T>C (p.Tyr4124His)
c.12403T>C (p.Tyr4135His)
c.4559T>C
c.12382T>C (p.Tyr4128His)
c.2435T>C
c.12334T>C (p.Tyr4112His)
n.3577T>C
c.12436T>C (p.Tyr4146His)
c.12433T>C (p.Tyr4145His)
c.12412T>C (p.Tyr4138His)
c.12406T>C (p.Tyr4136His)
c.12400T>C (p.Tyr4134His)
c.12376T>C (p.Tyr4126His)
c.12199T>C (p.Tyr4067His)
c.12343T>C (p.Tyr4115His)
c.12415T>C (p.Tyr4139His)
1g.237784094T>GCA345413094RYR2c.*3474T>G (n.*3474T>G)
c.12370T>G (p.Tyr4124Asp)
c.12403T>G (p.Tyr4135Asp)
c.4559T>G
c.12382T>G (p.Tyr4128Asp)
c.2435T>G
c.12334T>G (p.Tyr4112Asp)
n.3577T>G
c.12436T>G (p.Tyr4146Asp)
c.12433T>G (p.Tyr4145Asp)
c.12412T>G (p.Tyr4138Asp)
c.12406T>G (p.Tyr4136Asp)
c.12400T>G (p.Tyr4134Asp)
c.12376T>G (p.Tyr4126Asp)
c.12199T>G (p.Tyr4067Asp)
c.12343T>G (p.Tyr4115Asp)
c.12415T>G (p.Tyr4139Asp)
1g.237784095A>CCA345413095RYR2c.*3475A>C (n.*3475A>C)
c.12371A>C (p.Tyr4124Ser)
c.12404A>C (p.Tyr4135Ser)
c.4560A>C
c.12383A>C (p.Tyr4128Ser)
c.2436A>C
c.12335A>C (p.Tyr4112Ser)
n.3578A>C
c.12437A>C (p.Tyr4146Ser)
c.12434A>C (p.Tyr4145Ser)
c.12413A>C (p.Tyr4138Ser)
c.12407A>C (p.Tyr4136Ser)
c.12401A>C (p.Tyr4134Ser)
c.12377A>C (p.Tyr4126Ser)
c.12200A>C (p.Tyr4067Ser)
c.12344A>C (p.Tyr4115Ser)
c.12416A>C (p.Tyr4139Ser)
1g.237784095A>GCA345413096RYR2c.*3475A>G (n.*3475A>G)
c.12371A>G (p.Tyr4124Cys)
c.12404A>G (p.Tyr4135Cys)
c.4560A>G
c.12383A>G (p.Tyr4128Cys)
c.2436A>G
c.12335A>G (p.Tyr4112Cys)
n.3578A>G
c.12437A>G (p.Tyr4146Cys)
c.12434A>G (p.Tyr4145Cys)
c.12413A>G (p.Tyr4138Cys)
c.12407A>G (p.Tyr4136Cys)
c.12401A>G (p.Tyr4134Cys)
c.12377A>G (p.Tyr4126Cys)
c.12200A>G (p.Tyr4067Cys)
c.12344A>G (p.Tyr4115Cys)
c.12416A>G (p.Tyr4139Cys)
1g.237784095A>TCA345413097RYR2c.*3475A>T (n.*3475A>T)
c.12371A>T (p.Tyr4124Phe)
c.12404A>T (p.Tyr4135Phe)
c.4560A>T
c.12383A>T (p.Tyr4128Phe)
c.2436A>T
c.12335A>T (p.Tyr4112Phe)
n.3578A>T
c.12437A>T (p.Tyr4146Phe)
c.12434A>T (p.Tyr4145Phe)
c.12413A>T (p.Tyr4138Phe)
c.12407A>T (p.Tyr4136Phe)
c.12401A>T (p.Tyr4134Phe)
c.12377A>T (p.Tyr4126Phe)
c.12200A>T (p.Tyr4067Phe)
c.12344A>T (p.Tyr4115Phe)
c.12416A>T (p.Tyr4139Phe)
1g.237784096T>ACA345413098RYR2c.*3476T>A (n.*3476T>A)
c.12372T>A (p.Tyr4124Ter)
c.12405T>A (p.Tyr4135Ter)
c.4561T>A
c.12384T>A (p.Tyr4128Ter)
c.2437T>A
c.12336T>A (p.Tyr4112Ter)
n.3579T>A
c.12438T>A (p.Tyr4146Ter)
c.12435T>A (p.Tyr4145Ter)
c.12414T>A (p.Tyr4138Ter)
c.12408T>A (p.Tyr4136Ter)
c.12402T>A (p.Tyr4134Ter)
c.12378T>A (p.Tyr4126Ter)
c.12201T>A (p.Tyr4067Ter)
c.12345T>A (p.Tyr4115Ter)
c.12417T>A (p.Tyr4139Ter)
1g.237784096T>CCA424032103RYR2c.*3476T>C (n.*3476T>C)
c.12372T>C (p.Tyr4124=)
c.12405T>C (p.Tyr4135=)
c.4561T>C
c.12384T>C (p.Tyr4128=)
c.2437T>C
c.12336T>C (p.Tyr4112=)
n.3579T>C
c.12438T>C (p.Tyr4146=)
c.12435T>C (p.Tyr4145=)
c.12414T>C (p.Tyr4138=)
c.12408T>C (p.Tyr4136=)
c.12402T>C (p.Tyr4134=)
c.12378T>C (p.Tyr4126=)
c.12201T>C (p.Tyr4067=)
c.12345T>C (p.Tyr4115=)
c.12417T>C (p.Tyr4139=)
1g.237784096T>GCA345413099RYR2c.*3476T>G (n.*3476T>G)
c.12372T>G (p.Tyr4124Ter)
c.12405T>G (p.Tyr4135Ter)
c.4561T>G
c.12384T>G (p.Tyr4128Ter)
c.2437T>G
c.12336T>G (p.Tyr4112Ter)
n.3579T>G
c.12438T>G (p.Tyr4146Ter)
c.12435T>G (p.Tyr4145Ter)
c.12414T>G (p.Tyr4138Ter)
c.12408T>G (p.Tyr4136Ter)
c.12402T>G (p.Tyr4134Ter)
c.12378T>G (p.Tyr4126Ter)
c.12201T>G (p.Tyr4067Ter)
c.12345T>G (p.Tyr4115Ter)
c.12417T>G (p.Tyr4139Ter)
1g.237784098delCA2580062461RYR2c.*3478del (n.*3478del)
c.12374del (p.Phe4125SerfsTer?)
c.12407del (p.Phe4136SerfsTer?)
c.4563del
c.12386del (p.Phe4129SerfsTer?)
c.2439del
c.12338del (p.Phe4113SerfsTer?)
n.3581del
c.12440del (p.Phe4147SerfsTer?)
c.12437del (p.Phe4146SerfsTer?)
c.12416del (p.Phe4139SerfsTer?)
c.12410del (p.Phe4137SerfsTer?)
c.12404del (p.Phe4135SerfsTer?)
c.12380del (p.Phe4127SerfsTer?)
c.12203del (p.Phe4068SerfsTer?)
c.12347del (p.Phe4116SerfsTer?)
c.12419del (p.Phe4140SerfsTer?)
 ClinVar
1g.237784097T>ACA345413100RYR2c.*3477T>A (n.*3477T>A)
c.12373T>A (p.Phe4125Ile)
c.12406T>A (p.Phe4136Ile)
c.4562T>A
c.12385T>A (p.Phe4129Ile)
c.2438T>A
c.12337T>A (p.Phe4113Ile)
n.3580T>A
c.12439T>A (p.Phe4147Ile)
c.12436T>A (p.Phe4146Ile)
c.12415T>A (p.Phe4139Ile)
c.12409T>A (p.Phe4137Ile)
c.12403T>A (p.Phe4135Ile)
c.12379T>A (p.Phe4127Ile)
c.12202T>A (p.Phe4068Ile)
c.12346T>A (p.Phe4116Ile)
c.12418T>A (p.Phe4140Ile)
1g.237784097T>CCA345413102RYR2c.*3477T>C (n.*3477T>C)
c.12373T>C (p.Phe4125Leu)
c.12406T>C (p.Phe4136Leu)
c.4562T>C
c.12385T>C (p.Phe4129Leu)
c.2438T>C
c.12337T>C (p.Phe4113Leu)
n.3580T>C
c.12439T>C (p.Phe4147Leu)
c.12436T>C (p.Phe4146Leu)
c.12415T>C (p.Phe4139Leu)
c.12409T>C (p.Phe4137Leu)
c.12403T>C (p.Phe4135Leu)
c.12379T>C (p.Phe4127Leu)
c.12202T>C (p.Phe4068Leu)
c.12346T>C (p.Phe4116Leu)
c.12418T>C (p.Phe4140Leu)
 ClinVar dbSNP
1g.237784097T>GCA345413101RYR2c.*3477T>G (n.*3477T>G)
c.12373T>G (p.Phe4125Val)
c.12406T>G (p.Phe4136Val)
c.4562T>G
c.12385T>G (p.Phe4129Val)
c.2438T>G
c.12337T>G (p.Phe4113Val)
n.3580T>G
c.12439T>G (p.Phe4147Val)
c.12436T>G (p.Phe4146Val)
c.12415T>G (p.Phe4139Val)
c.12409T>G (p.Phe4137Val)
c.12403T>G (p.Phe4135Val)
c.12379T>G (p.Phe4127Val)
c.12202T>G (p.Phe4068Val)
c.12346T>G (p.Phe4116Val)
c.12418T>G (p.Phe4140Val)
 ClinVar dbSNP
1g.237784097T=CA2487482383RYR2c.*3477T= (n.*3477T=)
c.12373T= (p.Phe4125=)
c.12406T= (p.Phe4136=)
c.4562T=
c.12385T= (p.Phe4129=)
c.2438T=
c.12337T= (p.Phe4113=)
n.3580T=
c.12439T= (p.Phe4147=)
c.12436T= (p.Phe4146=)
c.12415T= (p.Phe4139=)
c.12409T= (p.Phe4137=)
c.12403T= (p.Phe4135=)
c.12379T= (p.Phe4127=)
c.12202T= (p.Phe4068=)
c.12346T= (p.Phe4116=)
c.12418T= (p.Phe4140=)
1g.237784098T>ACA345413103RYR2c.*3478T>A (n.*3478T>A)
c.12374T>A (p.Phe4125Tyr)
c.12407T>A (p.Phe4136Tyr)
c.4563T>A
c.12386T>A (p.Phe4129Tyr)
c.2439T>A
c.12338T>A (p.Phe4113Tyr)
n.3581T>A
c.12440T>A (p.Phe4147Tyr)
c.12437T>A (p.Phe4146Tyr)
c.12416T>A (p.Phe4139Tyr)
c.12410T>A (p.Phe4137Tyr)
c.12404T>A (p.Phe4135Tyr)
c.12380T>A (p.Phe4127Tyr)
c.12203T>A (p.Phe4068Tyr)
c.12347T>A (p.Phe4116Tyr)
c.12419T>A (p.Phe4140Tyr)
1g.237784098T>CCA345413104RYR2c.*3478T>C (n.*3478T>C)
c.12374T>C (p.Phe4125Ser)
c.12407T>C (p.Phe4136Ser)
c.4563T>C
c.12386T>C (p.Phe4129Ser)
c.2439T>C
c.12338T>C (p.Phe4113Ser)
n.3581T>C
c.12440T>C (p.Phe4147Ser)
c.12437T>C (p.Phe4146Ser)
c.12416T>C (p.Phe4139Ser)
c.12410T>C (p.Phe4137Ser)
c.12404T>C (p.Phe4135Ser)
c.12380T>C (p.Phe4127Ser)
c.12203T>C (p.Phe4068Ser)
c.12347T>C (p.Phe4116Ser)
c.12419T>C (p.Phe4140Ser)
1g.237784098T>GCA345413105RYR2c.*3478T>G (n.*3478T>G)
c.12374T>G (p.Phe4125Cys)
c.12407T>G (p.Phe4136Cys)
c.4563T>G
c.12386T>G (p.Phe4129Cys)
c.2439T>G
c.12338T>G (p.Phe4113Cys)
n.3581T>G
c.12440T>G (p.Phe4147Cys)
c.12437T>G (p.Phe4146Cys)
c.12416T>G (p.Phe4139Cys)
c.12410T>G (p.Phe4137Cys)
c.12404T>G (p.Phe4135Cys)
c.12380T>G (p.Phe4127Cys)
c.12203T>G (p.Phe4068Cys)
c.12347T>G (p.Phe4116Cys)
c.12419T>G (p.Phe4140Cys)
1g.237784099C>ACA345413106RYR2c.*3479C>A (n.*3479C>A)
c.12375C>A (p.Phe4125Leu)
c.12408C>A (p.Phe4136Leu)
c.4564C>A
c.12387C>A (p.Phe4129Leu)
c.2440C>A
c.12339C>A (p.Phe4113Leu)
n.3582C>A
c.12441C>A (p.Phe4147Leu)
c.12438C>A (p.Phe4146Leu)
c.12417C>A (p.Phe4139Leu)
c.12411C>A (p.Phe4137Leu)
c.12405C>A (p.Phe4135Leu)
c.12381C>A (p.Phe4127Leu)
c.12204C>A (p.Phe4068Leu)
c.12348C>A (p.Phe4116Leu)
c.12420C>A (p.Phe4140Leu)
1g.237784099C=CA2487482384RYR2c.*3479C= (n.*3479C=)
c.12375C= (p.Phe4125=)
c.12408C= (p.Phe4136=)
c.4564C=
c.12387C= (p.Phe4129=)
c.2440C=
c.12339C= (p.Phe4113=)
n.3582C=
c.12441C= (p.Phe4147=)
c.12438C= (p.Phe4146=)
c.12417C= (p.Phe4139=)
c.12411C= (p.Phe4137=)
c.12405C= (p.Phe4135=)
c.12381C= (p.Phe4127=)
c.12204C= (p.Phe4068=)
c.12348C= (p.Phe4116=)
c.12420C= (p.Phe4140=)
1g.237784099C>GCA345413107RYR2c.*3479C>G (n.*3479C>G)
c.12375C>G (p.Phe4125Leu)
c.12408C>G (p.Phe4136Leu)
c.4564C>G
c.12387C>G (p.Phe4129Leu)
c.2440C>G
c.12339C>G (p.Phe4113Leu)
n.3582C>G
c.12441C>G (p.Phe4147Leu)
c.12438C>G (p.Phe4146Leu)
c.12417C>G (p.Phe4139Leu)
c.12411C>G (p.Phe4137Leu)
c.12405C>G (p.Phe4135Leu)
c.12381C>G (p.Phe4127Leu)
c.12204C>G (p.Phe4068Leu)
c.12348C>G (p.Phe4116Leu)
c.12420C>G (p.Phe4140Leu)
 gnomAD v4
1g.237784099C>TCA424032107RYR2c.*3479C>T (n.*3479C>T)
c.12375C>T (p.Phe4125=)
c.12408C>T (p.Phe4136=)
c.4564C>T
c.12387C>T (p.Phe4129=)
c.2440C>T
c.12339C>T (p.Phe4113=)
n.3582C>T
c.12441C>T (p.Phe4147=)
c.12438C>T (p.Phe4146=)
c.12417C>T (p.Phe4139=)
c.12411C>T (p.Phe4137=)
c.12405C>T (p.Phe4135=)
c.12381C>T (p.Phe4127=)
c.12204C>T (p.Phe4068=)
c.12348C>T (p.Phe4116=)
c.12420C>T (p.Phe4140=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.237784100C>ACA345413108RYR2c.*3480C>A (n.*3480C>A)
c.12376C>A (p.Gln4126Lys)
c.12409C>A (p.Gln4137Lys)
c.4565C>A
c.12388C>A (p.Gln4130Lys)
c.2441C>A
c.12340C>A (p.Gln4114Lys)
n.3583C>A
c.12442C>A (p.Gln4148Lys)
c.12439C>A (p.Gln4147Lys)
c.12418C>A (p.Gln4140Lys)
c.12412C>A (p.Gln4138Lys)
c.12406C>A (p.Gln4136Lys)
c.12382C>A (p.Gln4128Lys)
c.12205C>A (p.Gln4069Lys)
c.12349C>A (p.Gln4117Lys)
c.12421C>A (p.Gln4141Lys)
1g.237784100C>GCA345413109RYR2c.*3480C>G (n.*3480C>G)
c.12376C>G (p.Gln4126Glu)
c.12409C>G (p.Gln4137Glu)
c.4565C>G
c.12388C>G (p.Gln4130Glu)
c.2441C>G
c.12340C>G (p.Gln4114Glu)
n.3583C>G
c.12442C>G (p.Gln4148Glu)
c.12439C>G (p.Gln4147Glu)
c.12418C>G (p.Gln4140Glu)
c.12412C>G (p.Gln4138Glu)
c.12406C>G (p.Gln4136Glu)
c.12382C>G (p.Gln4128Glu)
c.12205C>G (p.Gln4069Glu)
c.12349C>G (p.Gln4117Glu)
c.12421C>G (p.Gln4141Glu)
1g.237784100C>TCA345413110RYR2c.*3480C>T (n.*3480C>T)
c.12376C>T (p.Gln4126Ter)
c.12409C>T (p.Gln4137Ter)
c.4565C>T
c.12388C>T (p.Gln4130Ter)
c.2441C>T
c.12340C>T (p.Gln4114Ter)
n.3583C>T
c.12442C>T (p.Gln4148Ter)
c.12439C>T (p.Gln4147Ter)
c.12418C>T (p.Gln4140Ter)
c.12412C>T (p.Gln4138Ter)
c.12406C>T (p.Gln4136Ter)
c.12382C>T (p.Gln4128Ter)
c.12205C>T (p.Gln4069Ter)
c.12349C>T (p.Gln4117Ter)
c.12421C>T (p.Gln4141Ter)
1g.237784101A>CCA345413111RYR2c.*3481A>C (n.*3481A>C)
c.12377A>C (p.Gln4126Pro)
c.12410A>C (p.Gln4137Pro)
c.4566A>C
c.12389A>C (p.Gln4130Pro)
c.2442A>C
c.12341A>C (p.Gln4114Pro)
n.3584A>C
c.12443A>C (p.Gln4148Pro)
c.12440A>C (p.Gln4147Pro)
c.12419A>C (p.Gln4140Pro)
c.12413A>C (p.Gln4138Pro)
c.12407A>C (p.Gln4136Pro)
c.12383A>C (p.Gln4128Pro)
c.12206A>C (p.Gln4069Pro)
c.12350A>C (p.Gln4117Pro)
c.12422A>C (p.Gln4141Pro)
1g.237784101A>GCA345413112RYR2c.*3481A>G (n.*3481A>G)
c.12377A>G (p.Gln4126Arg)
c.12410A>G (p.Gln4137Arg)
c.4566A>G
c.12389A>G (p.Gln4130Arg)
c.2442A>G
c.12341A>G (p.Gln4114Arg)
n.3584A>G
c.12443A>G (p.Gln4148Arg)
c.12440A>G (p.Gln4147Arg)
c.12419A>G (p.Gln4140Arg)
c.12413A>G (p.Gln4138Arg)
c.12407A>G (p.Gln4136Arg)
c.12383A>G (p.Gln4128Arg)
c.12206A>G (p.Gln4069Arg)
c.12350A>G (p.Gln4117Arg)
c.12422A>G (p.Gln4141Arg)
1g.237784101A>TCA345413113RYR2c.*3481A>T (n.*3481A>T)
c.12377A>T (p.Gln4126Leu)
c.12410A>T (p.Gln4137Leu)
c.4566A>T
c.12389A>T (p.Gln4130Leu)
c.2442A>T
c.12341A>T (p.Gln4114Leu)
n.3584A>T
c.12443A>T (p.Gln4148Leu)
c.12440A>T (p.Gln4147Leu)
c.12419A>T (p.Gln4140Leu)
c.12413A>T (p.Gln4138Leu)
c.12407A>T (p.Gln4136Leu)
c.12383A>T (p.Gln4128Leu)
c.12206A>T (p.Gln4069Leu)
c.12350A>T (p.Gln4117Leu)
c.12422A>T (p.Gln4141Leu)
1g.237784102G>ACA424032109RYR2c.*3482G>A (n.*3482G>A)
c.12378G>A (p.Gln4126=)
c.12411G>A (p.Gln4137=)
c.4567G>A
c.12390G>A (p.Gln4130=)
c.2443G>A
c.12342G>A (p.Gln4114=)
n.3585G>A
c.12444G>A (p.Gln4148=)
c.12441G>A (p.Gln4147=)
c.12420G>A (p.Gln4140=)
c.12414G>A (p.Gln4138=)
c.12408G>A (p.Gln4136=)
c.12384G>A (p.Gln4128=)
c.12207G>A (p.Gln4069=)
c.12351G>A (p.Gln4117=)
c.12423G>A (p.Gln4141=)
1g.237784102G>CCA345413115RYR2c.*3482G>C (n.*3482G>C)
c.12378G>C (p.Gln4126His)
c.12411G>C (p.Gln4137His)
c.4567G>C
c.12390G>C (p.Gln4130His)
c.2443G>C
c.12342G>C (p.Gln4114His)
n.3585G>C
c.12444G>C (p.Gln4148His)
c.12441G>C (p.Gln4147His)
c.12420G>C (p.Gln4140His)
c.12414G>C (p.Gln4138His)
c.12408G>C (p.Gln4136His)
c.12384G>C (p.Gln4128His)
c.12207G>C (p.Gln4069His)
c.12351G>C (p.Gln4117His)
c.12423G>C (p.Gln4141His)
1g.237784102G>TCA345413114RYR2c.*3482G>T (n.*3482G>T)
c.12378G>T (p.Gln4126His)
c.12411G>T (p.Gln4137His)
c.4567G>T
c.12390G>T (p.Gln4130His)
c.2443G>T
c.12342G>T (p.Gln4114His)
n.3585G>T
c.12444G>T (p.Gln4148His)
c.12441G>T (p.Gln4147His)
c.12420G>T (p.Gln4140His)
c.12414G>T (p.Gln4138His)
c.12408G>T (p.Gln4136His)
c.12384G>T (p.Gln4128His)
c.12207G>T (p.Gln4069His)
c.12351G>T (p.Gln4117His)
c.12423G>T (p.Gln4141His)
1g.237784102dupCA2651213122RYR2c.*3482dup (n.*3482dup)
c.12378dup (p.Pro4127AlafsTer21)
c.12411dup (p.Pro4138AlafsTer21)
c.4567dup
c.12390dup (p.Pro4131AlafsTer21)
c.2443dup
c.12342dup (p.Pro4115AlafsTer21)
n.3585dup
c.12444dup (p.Pro4149AlafsTer21)
c.12441dup (p.Pro4148AlafsTer21)
c.12420dup (p.Pro4141AlafsTer21)
c.12414dup (p.Pro4139AlafsTer21)
c.12408dup (p.Pro4137AlafsTer21)
c.12384dup (p.Pro4129AlafsTer21)
c.12207dup (p.Pro4070AlafsTer21)
c.12351dup (p.Pro4118AlafsTer21)
c.12423dup (p.Pro4142AlafsTer21)
 gnomAD v4
1g.237784103C>ACA345413116RYR2c.*3483C>A (n.*3483C>A)
c.12379C>A (p.Pro4127Thr)
c.12412C>A (p.Pro4138Thr)
c.4568C>A
c.12391C>A (p.Pro4131Thr)
c.2444C>A
c.12343C>A (p.Pro4115Thr)
n.3586C>A
c.12445C>A (p.Pro4149Thr)
c.12442C>A (p.Pro4148Thr)
c.12421C>A (p.Pro4141Thr)
c.12415C>A (p.Pro4139Thr)
c.12409C>A (p.Pro4137Thr)
c.12385C>A (p.Pro4129Thr)
c.12208C>A (p.Pro4070Thr)
c.12352C>A (p.Pro4118Thr)
c.12424C>A (p.Pro4142Thr)
1g.237784103C>GCA345413117RYR2c.*3483C>G (n.*3483C>G)
c.12379C>G (p.Pro4127Ala)
c.12412C>G (p.Pro4138Ala)
c.4568C>G
c.12391C>G (p.Pro4131Ala)
c.2444C>G
c.12343C>G (p.Pro4115Ala)
n.3586C>G
c.12445C>G (p.Pro4149Ala)
c.12442C>G (p.Pro4148Ala)
c.12421C>G (p.Pro4141Ala)
c.12415C>G (p.Pro4139Ala)
c.12409C>G (p.Pro4137Ala)
c.12385C>G (p.Pro4129Ala)
c.12208C>G (p.Pro4070Ala)
c.12352C>G (p.Pro4118Ala)
c.12424C>G (p.Pro4142Ala)
1g.237784103C>TCA345413118RYR2c.*3483C>T (n.*3483C>T)
c.12379C>T (p.Pro4127Ser)
c.12412C>T (p.Pro4138Ser)
c.4568C>T
c.12391C>T (p.Pro4131Ser)
c.2444C>T
c.12343C>T (p.Pro4115Ser)
n.3586C>T
c.12445C>T (p.Pro4149Ser)
c.12442C>T (p.Pro4148Ser)
c.12421C>T (p.Pro4141Ser)
c.12415C>T (p.Pro4139Ser)
c.12409C>T (p.Pro4137Ser)
c.12385C>T (p.Pro4129Ser)
c.12208C>T (p.Pro4070Ser)
c.12352C>T (p.Pro4118Ser)
c.12424C>T (p.Pro4142Ser)
1g.237784104C>ACA345413119RYR2c.*3484C>A (n.*3484C>A)
c.12380C>A (p.Pro4127His)
c.12413C>A (p.Pro4138His)
c.4569C>A
c.12392C>A (p.Pro4131His)
c.2445C>A
c.12344C>A (p.Pro4115His)
n.3587C>A
c.12446C>A (p.Pro4149His)
c.12443C>A (p.Pro4148His)
c.12422C>A (p.Pro4141His)
c.12416C>A (p.Pro4139His)
c.12410C>A (p.Pro4137His)
c.12386C>A (p.Pro4129His)
c.12209C>A (p.Pro4070His)
c.12353C>A (p.Pro4118His)
c.12425C>A (p.Pro4142His)
 dbSNP
1g.237784104C=CA2487482385RYR2c.*3484C= (n.*3484C=)
c.12380C= (p.Pro4127=)
c.12413C= (p.Pro4138=)
c.4569C=
c.12392C= (p.Pro4131=)
c.2445C=
c.12344C= (p.Pro4115=)
n.3587C=
c.12446C= (p.Pro4149=)
c.12443C= (p.Pro4148=)
c.12422C= (p.Pro4141=)
c.12416C= (p.Pro4139=)
c.12410C= (p.Pro4137=)
c.12386C= (p.Pro4129=)
c.12209C= (p.Pro4070=)
c.12353C= (p.Pro4118=)
c.12425C= (p.Pro4142=)
1g.237784104C>GCA345413120RYR2c.*3484C>G (n.*3484C>G)
c.12380C>G (p.Pro4127Arg)
c.12413C>G (p.Pro4138Arg)
c.4569C>G
c.12392C>G (p.Pro4131Arg)
c.2445C>G
c.12344C>G (p.Pro4115Arg)
n.3587C>G
c.12446C>G (p.Pro4149Arg)
c.12443C>G (p.Pro4148Arg)
c.12422C>G (p.Pro4141Arg)
c.12416C>G (p.Pro4139Arg)
c.12410C>G (p.Pro4137Arg)
c.12386C>G (p.Pro4129Arg)
c.12209C>G (p.Pro4070Arg)
c.12353C>G (p.Pro4118Arg)
c.12425C>G (p.Pro4142Arg)
1g.237784104C>TCA345413121RYR2c.*3484C>T (n.*3484C>T)
c.12380C>T (p.Pro4127Leu)
c.12413C>T (p.Pro4138Leu)
c.4569C>T
c.12392C>T (p.Pro4131Leu)
c.2445C>T
c.12344C>T (p.Pro4115Leu)
n.3587C>T
c.12446C>T (p.Pro4149Leu)
c.12443C>T (p.Pro4148Leu)
c.12422C>T (p.Pro4141Leu)
c.12416C>T (p.Pro4139Leu)
c.12410C>T (p.Pro4137Leu)
c.12386C>T (p.Pro4129Leu)
c.12209C>T (p.Pro4070Leu)
c.12353C>T (p.Pro4118Leu)
c.12425C>T (p.Pro4142Leu)
 ClinVar dbSNP
1g.237784105C>ACA424032115RYR2c.*3485C>A (n.*3485C>A)
c.12381C>A (p.Pro4127=)
c.12414C>A (p.Pro4138=)
c.4570C>A
c.12393C>A (p.Pro4131=)
c.2446C>A
c.12345C>A (p.Pro4115=)
n.3588C>A
c.12447C>A (p.Pro4149=)
c.12444C>A (p.Pro4148=)
c.12423C>A (p.Pro4141=)
c.12417C>A (p.Pro4139=)
c.12411C>A (p.Pro4137=)
c.12387C>A (p.Pro4129=)
c.12210C>A (p.Pro4070=)
c.12354C>A (p.Pro4118=)
c.12426C>A (p.Pro4142=)
1g.237784105C=CA2487482386RYR2c.*3485C= (n.*3485C=)
c.12381C= (p.Pro4127=)
c.12414C= (p.Pro4138=)
c.4570C=
c.12393C= (p.Pro4131=)
c.2446C=
c.12345C= (p.Pro4115=)
n.3588C=
c.12447C= (p.Pro4149=)
c.12444C= (p.Pro4148=)
c.12423C= (p.Pro4141=)
c.12417C= (p.Pro4139=)
c.12411C= (p.Pro4137=)
c.12387C= (p.Pro4129=)
c.12210C= (p.Pro4070=)
c.12354C= (p.Pro4118=)
c.12426C= (p.Pro4142=)
1g.237784105C>GCA424032116RYR2c.*3485C>G (n.*3485C>G)
c.12381C>G (p.Pro4127=)
c.12414C>G (p.Pro4138=)
c.4570C>G
c.12393C>G (p.Pro4131=)
c.2446C>G
c.12345C>G (p.Pro4115=)
n.3588C>G
c.12447C>G (p.Pro4149=)
c.12444C>G (p.Pro4148=)
c.12423C>G (p.Pro4141=)
c.12417C>G (p.Pro4139=)
c.12411C>G (p.Pro4137=)
c.12387C>G (p.Pro4129=)
c.12210C>G (p.Pro4070=)
c.12354C>G (p.Pro4118=)
c.12426C>G (p.Pro4142=)
 dbSNP
1g.237784105C>TCA424032117RYR2c.*3485C>T (n.*3485C>T)
c.12381C>T (p.Pro4127=)
c.12414C>T (p.Pro4138=)
c.4570C>T
c.12393C>T (p.Pro4131=)
c.2446C>T
c.12345C>T (p.Pro4115=)
n.3588C>T
c.12447C>T (p.Pro4149=)
c.12444C>T (p.Pro4148=)
c.12423C>T (p.Pro4141=)
c.12417C>T (p.Pro4139=)
c.12411C>T (p.Pro4137=)
c.12387C>T (p.Pro4129=)
c.12210C>T (p.Pro4070=)
c.12354C>T (p.Pro4118=)
c.12426C>T (p.Pro4142=)
1g.237784106T>ACA345413124RYR2c.*3486T>A (n.*3486T>A)
c.12382T>A (p.Phe4128Ile)
c.12415T>A (p.Phe4139Ile)
c.4571T>A
c.12394T>A (p.Phe4132Ile)
c.2447T>A
c.12346T>A (p.Phe4116Ile)
n.3589T>A
c.12448T>A (p.Phe4150Ile)
c.12445T>A (p.Phe4149Ile)
c.12424T>A (p.Phe4142Ile)
c.12418T>A (p.Phe4140Ile)
c.12412T>A (p.Phe4138Ile)
c.12388T>A (p.Phe4130Ile)
c.12211T>A (p.Phe4071Ile)
c.12355T>A (p.Phe4119Ile)
c.12427T>A (p.Phe4143Ile)
1g.237784106T>CCA345413123RYR2c.*3486T>C (n.*3486T>C)
c.12382T>C (p.Phe4128Leu)
c.12415T>C (p.Phe4139Leu)
c.4571T>C
c.12394T>C (p.Phe4132Leu)
c.2447T>C
c.12346T>C (p.Phe4116Leu)
n.3589T>C
c.12448T>C (p.Phe4150Leu)
c.12445T>C (p.Phe4149Leu)
c.12424T>C (p.Phe4142Leu)
c.12418T>C (p.Phe4140Leu)
c.12412T>C (p.Phe4138Leu)
c.12388T>C (p.Phe4130Leu)
c.12211T>C (p.Phe4071Leu)
c.12355T>C (p.Phe4119Leu)
c.12427T>C (p.Phe4143Leu)
1g.237784106T>GCA345413122RYR2c.*3486T>G (n.*3486T>G)
c.12382T>G (p.Phe4128Val)
c.12415T>G (p.Phe4139Val)
c.4571T>G
c.12394T>G (p.Phe4132Val)
c.2447T>G
c.12346T>G (p.Phe4116Val)
n.3589T>G
c.12448T>G (p.Phe4150Val)
c.12445T>G (p.Phe4149Val)
c.12424T>G (p.Phe4142Val)
c.12418T>G (p.Phe4140Val)
c.12412T>G (p.Phe4138Val)
c.12388T>G (p.Phe4130Val)
c.12211T>G (p.Phe4071Val)
c.12355T>G (p.Phe4119Val)
c.12427T>G (p.Phe4143Val)
1g.237784107T>ACA345413125RYR2c.*3487T>A (n.*3487T>A)
c.12383T>A (p.Phe4128Tyr)
c.12416T>A (p.Phe4139Tyr)
c.4572T>A
c.12395T>A (p.Phe4132Tyr)
c.2448T>A
c.12347T>A (p.Phe4116Tyr)
n.3590T>A
c.12449T>A (p.Phe4150Tyr)
c.12446T>A (p.Phe4149Tyr)
c.12425T>A (p.Phe4142Tyr)
c.12419T>A (p.Phe4140Tyr)
c.12413T>A (p.Phe4138Tyr)
c.12389T>A (p.Phe4130Tyr)
c.12212T>A (p.Phe4071Tyr)
c.12356T>A (p.Phe4119Tyr)
c.12428T>A (p.Phe4143Tyr)
 dbSNP gnomAD v4
1g.237784107T>CCA345413126RYR2c.*3487T>C (n.*3487T>C)
c.12383T>C (p.Phe4128Ser)
c.12416T>C (p.Phe4139Ser)
c.4572T>C
c.12395T>C (p.Phe4132Ser)
c.2448T>C
c.12347T>C (p.Phe4116Ser)
n.3590T>C
c.12449T>C (p.Phe4150Ser)
c.12446T>C (p.Phe4149Ser)
c.12425T>C (p.Phe4142Ser)
c.12419T>C (p.Phe4140Ser)
c.12413T>C (p.Phe4138Ser)
c.12389T>C (p.Phe4130Ser)
c.12212T>C (p.Phe4071Ser)
c.12356T>C (p.Phe4119Ser)
c.12428T>C (p.Phe4143Ser)
1g.237784107T>GCA345413127RYR2c.*3487T>G (n.*3487T>G)
c.12383T>G (p.Phe4128Cys)
c.12416T>G (p.Phe4139Cys)
c.4572T>G
c.12395T>G (p.Phe4132Cys)
c.2448T>G
c.12347T>G (p.Phe4116Cys)
n.3590T>G
c.12449T>G (p.Phe4150Cys)
c.12446T>G (p.Phe4149Cys)
c.12425T>G (p.Phe4142Cys)
c.12419T>G (p.Phe4140Cys)
c.12413T>G (p.Phe4138Cys)
c.12389T>G (p.Phe4130Cys)
c.12212T>G (p.Phe4071Cys)
c.12356T>G (p.Phe4119Cys)
c.12428T>G (p.Phe4143Cys)
1g.237784107T=CA2487482387RYR2c.*3487T= (n.*3487T=)
c.12383T= (p.Phe4128=)
c.12416T= (p.Phe4139=)
c.4572T=
c.12395T= (p.Phe4132=)
c.2448T=
c.12347T= (p.Phe4116=)
n.3590T=
c.12449T= (p.Phe4150=)
c.12446T= (p.Phe4149=)
c.12425T= (p.Phe4142=)
c.12419T= (p.Phe4140=)
c.12413T= (p.Phe4138=)
c.12389T= (p.Phe4130=)
c.12212T= (p.Phe4071=)
c.12356T= (p.Phe4119=)
c.12428T= (p.Phe4143=)
1g.237784108T>ACA345413128RYR2c.*3488T>A (n.*3488T>A)
c.12384T>A (p.Phe4128Leu)
c.12417T>A (p.Phe4139Leu)
c.4573T>A
c.12396T>A (p.Phe4132Leu)
c.2449T>A
c.12348T>A (p.Phe4116Leu)
n.3591T>A
c.12450T>A (p.Phe4150Leu)
c.12447T>A (p.Phe4149Leu)
c.12426T>A (p.Phe4142Leu)
c.12420T>A (p.Phe4140Leu)
c.12414T>A (p.Phe4138Leu)
c.12390T>A (p.Phe4130Leu)
c.12213T>A (p.Phe4071Leu)
c.12357T>A (p.Phe4119Leu)
c.12429T>A (p.Phe4143Leu)
 gnomAD v4
1g.237784108T>CCA424032123RYR2c.*3488T>C (n.*3488T>C)
c.12384T>C (p.Phe4128=)
c.12417T>C (p.Phe4139=)
c.4573T>C
c.12396T>C (p.Phe4132=)
c.2449T>C
c.12348T>C (p.Phe4116=)
n.3591T>C
c.12450T>C (p.Phe4150=)
c.12447T>C (p.Phe4149=)
c.12426T>C (p.Phe4142=)
c.12420T>C (p.Phe4140=)
c.12414T>C (p.Phe4138=)
c.12390T>C (p.Phe4130=)
c.12213T>C (p.Phe4071=)
c.12357T>C (p.Phe4119=)
c.12429T>C (p.Phe4143=)
1g.237784108T>GCA345413129RYR2c.*3488T>G (n.*3488T>G)
c.12384T>G (p.Phe4128Leu)
c.12417T>G (p.Phe4139Leu)
c.4573T>G
c.12396T>G (p.Phe4132Leu)
c.2449T>G
c.12348T>G (p.Phe4116Leu)
n.3591T>G
c.12450T>G (p.Phe4150Leu)
c.12447T>G (p.Phe4149Leu)
c.12426T>G (p.Phe4142Leu)
c.12420T>G (p.Phe4140Leu)
c.12414T>G (p.Phe4138Leu)
c.12390T>G (p.Phe4130Leu)
c.12213T>G (p.Phe4071Leu)
c.12357T>G (p.Phe4119Leu)
c.12429T>G (p.Phe4143Leu)
1g.237784109C>ACA345413130RYR2c.*3489C>A (n.*3489C>A)
c.12385C>A (p.Leu4129Met)
c.12418C>A (p.Leu4140Met)
c.4574C>A
c.12397C>A (p.Leu4133Met)
c.2450C>A
c.12349C>A (p.Leu4117Met)
n.3592C>A
c.12451C>A (p.Leu4151Met)
c.12448C>A (p.Leu4150Met)
c.12427C>A (p.Leu4143Met)
c.12421C>A (p.Leu4141Met)
c.12415C>A (p.Leu4139Met)
c.12391C>A (p.Leu4131Met)
c.12214C>A (p.Leu4072Met)
c.12358C>A (p.Leu4120Met)
c.12430C>A (p.Leu4144Met)
 gnomAD v4
1g.237784109C=CA2487482388RYR2c.*3489C= (n.*3489C=)
c.12385C= (p.Leu4129=)
c.12418C= (p.Leu4140=)
c.4574C=
c.12397C= (p.Leu4133=)
c.2450C=
c.12349C= (p.Leu4117=)
n.3592C=
c.12451C= (p.Leu4151=)
c.12448C= (p.Leu4150=)
c.12427C= (p.Leu4143=)
c.12421C= (p.Leu4141=)
c.12415C= (p.Leu4139=)
c.12391C= (p.Leu4131=)
c.12214C= (p.Leu4072=)
c.12358C= (p.Leu4120=)
c.12430C= (p.Leu4144=)
1g.237784109C>GCA345413131RYR2c.*3489C>G (n.*3489C>G)
c.12385C>G (p.Leu4129Val)
c.12418C>G (p.Leu4140Val)
c.4574C>G
c.12397C>G (p.Leu4133Val)
c.2450C>G
c.12349C>G (p.Leu4117Val)
n.3592C>G
c.12451C>G (p.Leu4151Val)
c.12448C>G (p.Leu4150Val)
c.12427C>G (p.Leu4143Val)
c.12421C>G (p.Leu4141Val)
c.12415C>G (p.Leu4139Val)
c.12391C>G (p.Leu4131Val)
c.12214C>G (p.Leu4072Val)
c.12358C>G (p.Leu4120Val)
c.12430C>G (p.Leu4144Val)
1g.237784109C>TCA424032125RYR2c.*3489C>T (n.*3489C>T)
c.12385C>T (p.Leu4129=)
c.12418C>T (p.Leu4140=)
c.4574C>T
c.12397C>T (p.Leu4133=)
c.2450C>T
c.12349C>T (p.Leu4117=)
n.3592C>T
c.12451C>T (p.Leu4151=)
c.12448C>T (p.Leu4150=)
c.12427C>T (p.Leu4143=)
c.12421C>T (p.Leu4141=)
c.12415C>T (p.Leu4139=)
c.12391C>T (p.Leu4131=)
c.12214C>T (p.Leu4072=)
c.12358C>T (p.Leu4120=)
c.12430C>T (p.Leu4144=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.237784110T>ACA345413132RYR2c.*3490T>A (n.*3490T>A)
c.12386T>A (p.Leu4129Gln)
c.12419T>A (p.Leu4140Gln)
c.4575T>A
c.12398T>A (p.Leu4133Gln)
c.2451T>A
c.12350T>A (p.Leu4117Gln)
n.3593T>A
c.12452T>A (p.Leu4151Gln)
c.12449T>A (p.Leu4150Gln)
c.12428T>A (p.Leu4143Gln)
c.12422T>A (p.Leu4141Gln)
c.12416T>A (p.Leu4139Gln)
c.12392T>A (p.Leu4131Gln)
c.12215T>A (p.Leu4072Gln)
c.12359T>A (p.Leu4120Gln)
c.12431T>A (p.Leu4144Gln)
 gnomAD v4
1g.237784110T>CCA345413134RYR2c.*3490T>C (n.*3490T>C)
c.12386T>C (p.Leu4129Pro)
c.12419T>C (p.Leu4140Pro)
c.4575T>C
c.12398T>C (p.Leu4133Pro)
c.2451T>C
c.12350T>C (p.Leu4117Pro)
n.3593T>C
c.12452T>C (p.Leu4151Pro)
c.12449T>C (p.Leu4150Pro)
c.12428T>C (p.Leu4143Pro)
c.12422T>C (p.Leu4141Pro)
c.12416T>C (p.Leu4139Pro)
c.12392T>C (p.Leu4131Pro)
c.12215T>C (p.Leu4072Pro)
c.12359T>C (p.Leu4120Pro)
c.12431T>C (p.Leu4144Pro)
1g.237784110T>GCA345413133RYR2c.*3490T>G (n.*3490T>G)
c.12386T>G (p.Leu4129Arg)
c.12419T>G (p.Leu4140Arg)
c.4575T>G
c.12398T>G (p.Leu4133Arg)
c.2451T>G
c.12350T>G (p.Leu4117Arg)
n.3593T>G
c.12452T>G (p.Leu4151Arg)
c.12449T>G (p.Leu4150Arg)
c.12428T>G (p.Leu4143Arg)
c.12422T>G (p.Leu4141Arg)
c.12416T>G (p.Leu4139Arg)
c.12392T>G (p.Leu4131Arg)
c.12215T>G (p.Leu4072Arg)
c.12359T>G (p.Leu4120Arg)
c.12431T>G (p.Leu4144Arg)
1g.237784111G>ACA424032129RYR2c.*3491G>A (n.*3491G>A)
c.12387G>A (p.Leu4129=)
c.12420G>A (p.Leu4140=)
c.4576G>A
c.12399G>A (p.Leu4133=)
c.2452G>A
c.12351G>A (p.Leu4117=)
n.3594G>A
c.12453G>A (p.Leu4151=)
c.12450G>A (p.Leu4150=)
c.12429G>A (p.Leu4143=)
c.12423G>A (p.Leu4141=)
c.12417G>A (p.Leu4139=)
c.12393G>A (p.Leu4131=)
c.12216G>A (p.Leu4072=)
c.12360G>A (p.Leu4120=)
c.12432G>A (p.Leu4144=)
1g.237784111G>CCA424032131RYR2c.*3491G>C (n.*3491G>C)
c.12387G>C (p.Leu4129=)
c.12420G>C (p.Leu4140=)
c.4576G>C
c.12399G>C (p.Leu4133=)
c.2452G>C
c.12351G>C (p.Leu4117=)
n.3594G>C
c.12453G>C (p.Leu4151=)
c.12450G>C (p.Leu4150=)
c.12429G>C (p.Leu4143=)
c.12423G>C (p.Leu4141=)
c.12417G>C (p.Leu4139=)
c.12393G>C (p.Leu4131=)
c.12216G>C (p.Leu4072=)
c.12360G>C (p.Leu4120=)
c.12432G>C (p.Leu4144=)
1g.237784111G>TCA424032132RYR2c.*3491G>T (n.*3491G>T)
c.12387G>T (p.Leu4129=)
c.12420G>T (p.Leu4140=)
c.4576G>T
c.12399G>T (p.Leu4133=)
c.2452G>T
c.12351G>T (p.Leu4117=)
n.3594G>T
c.12453G>T (p.Leu4151=)
c.12450G>T (p.Leu4150=)
c.12429G>T (p.Leu4143=)
c.12423G>T (p.Leu4141=)
c.12417G>T (p.Leu4139=)
c.12393G>T (p.Leu4131=)
c.12216G>T (p.Leu4072=)
c.12360G>T (p.Leu4120=)
c.12432G>T (p.Leu4144=)
 COSMIC
1g.237784112G>ACA345413135RYR2c.*3492G>A (n.*3492G>A)
c.12388G>A (p.Gly4130Ser)
c.12421G>A (p.Gly4141Ser)
c.4577G>A
c.12400G>A (p.Gly4134Ser)
c.2453G>A
c.12352G>A (p.Gly4118Ser)
n.3595G>A
c.12454G>A (p.Gly4152Ser)
c.12451G>A (p.Gly4151Ser)
c.12430G>A (p.Gly4144Ser)
c.12424G>A (p.Gly4142Ser)
c.12418G>A (p.Gly4140Ser)
c.12394G>A (p.Gly4132Ser)
c.12217G>A (p.Gly4073Ser)
c.12361G>A (p.Gly4121Ser)
c.12433G>A (p.Gly4145Ser)
1g.237784112G>CCA345413136RYR2c.*3492G>C (n.*3492G>C)
c.12388G>C (p.Gly4130Arg)
c.12421G>C (p.Gly4141Arg)
c.4577G>C
c.12400G>C (p.Gly4134Arg)
c.2453G>C
c.12352G>C (p.Gly4118Arg)
n.3595G>C
c.12454G>C (p.Gly4152Arg)
c.12451G>C (p.Gly4151Arg)
c.12430G>C (p.Gly4144Arg)
c.12424G>C (p.Gly4142Arg)
c.12418G>C (p.Gly4140Arg)
c.12394G>C (p.Gly4132Arg)
c.12217G>C (p.Gly4073Arg)
c.12361G>C (p.Gly4121Arg)
c.12433G>C (p.Gly4145Arg)
1g.237784112G>TCA345413137RYR2c.*3492G>T (n.*3492G>T)
c.12388G>T (p.Gly4130Cys)
c.12421G>T (p.Gly4141Cys)
c.4577G>T
c.12400G>T (p.Gly4134Cys)
c.2453G>T
c.12352G>T (p.Gly4118Cys)
n.3595G>T
c.12454G>T (p.Gly4152Cys)
c.12451G>T (p.Gly4151Cys)
c.12430G>T (p.Gly4144Cys)
c.12424G>T (p.Gly4142Cys)
c.12418G>T (p.Gly4140Cys)
c.12394G>T (p.Gly4132Cys)
c.12217G>T (p.Gly4073Cys)
c.12361G>T (p.Gly4121Cys)
c.12433G>T (p.Gly4145Cys)
 COSMIC COSMIC
1g.237784113G>ACA345413138RYR2c.*3493G>A (n.*3493G>A)
c.12389G>A (p.Gly4130Asp)
c.12422G>A (p.Gly4141Asp)
c.4578G>A
c.12401G>A (p.Gly4134Asp)
c.2454G>A
c.12353G>A (p.Gly4118Asp)
n.3596G>A
c.12455G>A (p.Gly4152Asp)
c.12452G>A (p.Gly4151Asp)
c.12431G>A (p.Gly4144Asp)
c.12425G>A (p.Gly4142Asp)
c.12419G>A (p.Gly4140Asp)
c.12395G>A (p.Gly4132Asp)
c.12218G>A (p.Gly4073Asp)
c.12362G>A (p.Gly4121Asp)
c.12434G>A (p.Gly4145Asp)
 dbSNP
1g.237784113G>CCA345413139RYR2c.*3493G>C (n.*3493G>C)
c.12389G>C (p.Gly4130Ala)
c.12422G>C (p.Gly4141Ala)
c.4578G>C
c.12401G>C (p.Gly4134Ala)
c.2454G>C
c.12353G>C (p.Gly4118Ala)
n.3596G>C
c.12455G>C (p.Gly4152Ala)
c.12452G>C (p.Gly4151Ala)
c.12431G>C (p.Gly4144Ala)
c.12425G>C (p.Gly4142Ala)
c.12419G>C (p.Gly4140Ala)
c.12395G>C (p.Gly4132Ala)
c.12218G>C (p.Gly4073Ala)
c.12362G>C (p.Gly4121Ala)
c.12434G>C (p.Gly4145Ala)
 ClinVar dbSNP
1g.237784113G=CA2487482389RYR2c.*3493G= (n.*3493G=)
c.12389G= (p.Gly4130=)
c.12422G= (p.Gly4141=)
c.4578G=
c.12401G= (p.Gly4134=)
c.2454G=
c.12353G= (p.Gly4118=)
n.3596G=
c.12455G= (p.Gly4152=)
c.12452G= (p.Gly4151=)
c.12431G= (p.Gly4144=)
c.12425G= (p.Gly4142=)
c.12419G= (p.Gly4140=)
c.12395G= (p.Gly4132=)
c.12218G= (p.Gly4073=)
c.12362G= (p.Gly4121=)
c.12434G= (p.Gly4145=)
1g.237784113G>TCA345413140RYR2c.*3493G>T (n.*3493G>T)
c.12389G>T (p.Gly4130Val)
c.12422G>T (p.Gly4141Val)
c.4578G>T
c.12401G>T (p.Gly4134Val)
c.2454G>T
c.12353G>T (p.Gly4118Val)
n.3596G>T
c.12455G>T (p.Gly4152Val)
c.12452G>T (p.Gly4151Val)
c.12431G>T (p.Gly4144Val)
c.12425G>T (p.Gly4142Val)
c.12419G>T (p.Gly4140Val)
c.12395G>T (p.Gly4132Val)
c.12218G>T (p.Gly4073Val)
c.12362G>T (p.Gly4121Val)
c.12434G>T (p.Gly4145Val)
 ClinVar dbSNP
1g.237784114C>ACA424032137RYR2c.*3494C>A (n.*3494C>A)
c.12390C>A (p.Gly4130=)
c.12423C>A (p.Gly4141=)
c.4579C>A
c.12402C>A (p.Gly4134=)
c.2455C>A
c.12354C>A (p.Gly4118=)
n.3597C>A
c.12456C>A (p.Gly4152=)
c.12453C>A (p.Gly4151=)
c.12432C>A (p.Gly4144=)
c.12426C>A (p.Gly4142=)
c.12420C>A (p.Gly4140=)
c.12396C>A (p.Gly4132=)
c.12219C>A (p.Gly4073=)
c.12363C>A (p.Gly4121=)
c.12435C>A (p.Gly4145=)
 ClinVar dbSNP
1g.237784114C>GCA424032139RYR2c.*3494C>G (n.*3494C>G)
c.12390C>G (p.Gly4130=)
c.12423C>G (p.Gly4141=)
c.4579C>G
c.12402C>G (p.Gly4134=)
c.2455C>G
c.12354C>G (p.Gly4118=)
n.3597C>G
c.12456C>G (p.Gly4152=)
c.12453C>G (p.Gly4151=)
c.12432C>G (p.Gly4144=)
c.12426C>G (p.Gly4142=)
c.12420C>G (p.Gly4140=)
c.12396C>G (p.Gly4132=)
c.12219C>G (p.Gly4073=)
c.12363C>G (p.Gly4121=)
c.12435C>G (p.Gly4145=)
1g.237784114C>TCA424032142RYR2c.*3494C>T (n.*3494C>T)
c.12390C>T (p.Gly4130=)
c.12423C>T (p.Gly4141=)
c.4579C>T
c.12402C>T (p.Gly4134=)
c.2455C>T
c.12354C>T (p.Gly4118=)
n.3597C>T
c.12456C>T (p.Gly4152=)
c.12453C>T (p.Gly4151=)
c.12432C>T (p.Gly4144=)
c.12426C>T (p.Gly4142=)
c.12420C>T (p.Gly4140=)
c.12396C>T (p.Gly4132=)
c.12219C>T (p.Gly4073=)
c.12363C>T (p.Gly4121=)
c.12435C>T (p.Gly4145=)
1g.237784115C>ACA345413141RYR2c.*3495C>A (n.*3495C>A)
c.12391C>A (p.Arg4131Ser)
c.12424C>A (p.Arg4142Ser)
c.4580C>A
c.12403C>A (p.Arg4135Ser)
c.2456C>A
c.12355C>A (p.Arg4119Ser)
n.3598C>A
c.12457C>A (p.Arg4153Ser)
c.12454C>A (p.Arg4152Ser)
c.12433C>A (p.Arg4145Ser)
c.12427C>A (p.Arg4143Ser)
c.12421C>A (p.Arg4141Ser)
c.12397C>A (p.Arg4133Ser)
c.12220C>A (p.Arg4074Ser)
c.12364C>A (p.Arg4122Ser)
c.12436C>A (p.Arg4146Ser)
1g.237784115C=CA2487482390RYR2c.*3495C= (n.*3495C=)
c.12391C= (p.Arg4131=)
c.12424C= (p.Arg4142=)
c.4580C=
c.12403C= (p.Arg4135=)
c.2456C=
c.12355C= (p.Arg4119=)
n.3598C=
c.12457C= (p.Arg4153=)
c.12454C= (p.Arg4152=)
c.12433C= (p.Arg4145=)
c.12427C= (p.Arg4143=)
c.12421C= (p.Arg4141=)
c.12397C= (p.Arg4133=)
c.12220C= (p.Arg4074=)
c.12364C= (p.Arg4122=)
c.12436C= (p.Arg4146=)
1g.237784115C>GCA345413142RYR2c.*3495C>G (n.*3495C>G)
c.12391C>G (p.Arg4131Gly)
c.12424C>G (p.Arg4142Gly)
c.4580C>G
c.12403C>G (p.Arg4135Gly)
c.2456C>G
c.12355C>G (p.Arg4119Gly)
n.3598C>G
c.12457C>G (p.Arg4153Gly)
c.12454C>G (p.Arg4152Gly)
c.12433C>G (p.Arg4145Gly)
c.12427C>G (p.Arg4143Gly)
c.12421C>G (p.Arg4141Gly)
c.12397C>G (p.Arg4133Gly)
c.12220C>G (p.Arg4074Gly)
c.12364C>G (p.Arg4122Gly)
c.12436C>G (p.Arg4146Gly)
1g.237784115C>TCA085178RYR2c.*3495C>T (n.*3495C>T)
c.12391C>T (p.Arg4131Cys)
c.12424C>T (p.Arg4142Cys)
c.4580C>T
c.12403C>T (p.Arg4135Cys)
c.2456C>T
c.12355C>T (p.Arg4119Cys)
n.3598C>T
c.12457C>T (p.Arg4153Cys)
c.12454C>T (p.Arg4152Cys)
c.12433C>T (p.Arg4145Cys)
c.12427C>T (p.Arg4143Cys)
c.12421C>T (p.Arg4141Cys)
c.12397C>T (p.Arg4133Cys)
c.12220C>T (p.Arg4074Cys)
c.12364C>T (p.Arg4122Cys)
c.12436C>T (p.Arg4146Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784116G>ACA085179RYR2c.*3496G>A (n.*3496G>A)
c.12392G>A (p.Arg4131His)
c.12425G>A (p.Arg4142His)
c.4581G>A
c.12404G>A (p.Arg4135His)
c.2457G>A
c.12356G>A (p.Arg4119His)
n.3599G>A
c.12458G>A (p.Arg4153His)
c.12455G>A (p.Arg4152His)
c.12434G>A (p.Arg4145His)
c.12428G>A (p.Arg4143His)
c.12422G>A (p.Arg4141His)
c.12398G>A (p.Arg4133His)
c.12221G>A (p.Arg4074His)
c.12365G>A (p.Arg4122His)
c.12437G>A (p.Arg4146His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237784116G>CCA345413143RYR2c.*3496G>C (n.*3496G>C)
c.12392G>C (p.Arg4131Pro)
c.12425G>C (p.Arg4142Pro)
c.4581G>C
c.12404G>C (p.Arg4135Pro)
c.2457G>C
c.12356G>C (p.Arg4119Pro)
n.3599G>C
c.12458G>C (p.Arg4153Pro)
c.12455G>C (p.Arg4152Pro)
c.12434G>C (p.Arg4145Pro)
c.12428G>C (p.Arg4143Pro)
c.12422G>C (p.Arg4141Pro)
c.12398G>C (p.Arg4133Pro)
c.12221G>C (p.Arg4074Pro)
c.12365G>C (p.Arg4122Pro)
c.12437G>C (p.Arg4146Pro)
1g.237784116G=CA2487482391RYR2c.*3496G= (n.*3496G=)
c.12392G= (p.Arg4131=)
c.12425G= (p.Arg4142=)
c.4581G=
c.12404G= (p.Arg4135=)
c.2457G=
c.12356G= (p.Arg4119=)
n.3599G=
c.12458G= (p.Arg4153=)
c.12455G= (p.Arg4152=)
c.12434G= (p.Arg4145=)
c.12428G= (p.Arg4143=)
c.12422G= (p.Arg4141=)
c.12398G= (p.Arg4133=)
c.12221G= (p.Arg4074=)
c.12365G= (p.Arg4122=)
c.12437G= (p.Arg4146=)
1g.237784116G>TCA345413144RYR2c.*3496G>T (n.*3496G>T)
c.12392G>T (p.Arg4131Leu)
c.12425G>T (p.Arg4142Leu)
c.4581G>T
c.12404G>T (p.Arg4135Leu)
c.2457G>T
c.12356G>T (p.Arg4119Leu)
n.3599G>T
c.12458G>T (p.Arg4153Leu)
c.12455G>T (p.Arg4152Leu)
c.12434G>T (p.Arg4145Leu)
c.12428G>T (p.Arg4143Leu)
c.12422G>T (p.Arg4141Leu)
c.12398G>T (p.Arg4133Leu)
c.12221G>T (p.Arg4074Leu)
c.12365G>T (p.Arg4122Leu)
c.12437G>T (p.Arg4146Leu)
 ClinVar dbSNP COSMIC
1g.237784117C>ACA424032145RYR2c.*3497C>A (n.*3497C>A)
c.12393C>A (p.Arg4131=)
c.12426C>A (p.Arg4142=)
c.4582C>A
c.12405C>A (p.Arg4135=)
c.2458C>A
c.12357C>A (p.Arg4119=)
n.3600C>A
c.12459C>A (p.Arg4153=)
c.12456C>A (p.Arg4152=)
c.12435C>A (p.Arg4145=)
c.12429C>A (p.Arg4143=)
c.12423C>A (p.Arg4141=)
c.12399C>A (p.Arg4133=)
c.12222C>A (p.Arg4074=)
c.12366C>A (p.Arg4122=)
c.12438C>A (p.Arg4146=)
1g.237784117C>GCA424032147RYR2c.*3497C>G (n.*3497C>G)
c.12393C>G (p.Arg4131=)
c.12426C>G (p.Arg4142=)
c.4582C>G
c.12405C>G (p.Arg4135=)
c.2458C>G
c.12357C>G (p.Arg4119=)
n.3600C>G
c.12459C>G (p.Arg4153=)
c.12456C>G (p.Arg4152=)
c.12435C>G (p.Arg4145=)
c.12429C>G (p.Arg4143=)
c.12423C>G (p.Arg4141=)
c.12399C>G (p.Arg4133=)
c.12222C>G (p.Arg4074=)
c.12366C>G (p.Arg4122=)
c.12438C>G (p.Arg4146=)
1g.237784117C>TCA424032144RYR2c.*3497C>T (n.*3497C>T)
c.12393C>T (p.Arg4131=)
c.12426C>T (p.Arg4142=)
c.4582C>T
c.12405C>T (p.Arg4135=)
c.2458C>T
c.12357C>T (p.Arg4119=)
n.3600C>T
c.12459C>T (p.Arg4153=)
c.12456C>T (p.Arg4152=)
c.12435C>T (p.Arg4145=)
c.12429C>T (p.Arg4143=)
c.12423C>T (p.Arg4141=)
c.12399C>T (p.Arg4133=)
c.12222C>T (p.Arg4074=)
c.12366C>T (p.Arg4122=)
c.12438C>T (p.Arg4146=)
 ClinVar dbSNP gnomAD v4
1g.237784118A>CCA345413145RYR2c.*3498A>C (n.*3498A>C)
c.12394A>C (p.Ile4132Leu)
c.12427A>C (p.Ile4143Leu)
c.4583A>C
c.12406A>C (p.Ile4136Leu)
c.2459A>C
c.12358A>C (p.Ile4120Leu)
n.3601A>C
c.12460A>C (p.Ile4154Leu)
c.12457A>C (p.Ile4153Leu)
c.12436A>C (p.Ile4146Leu)
c.12430A>C (p.Ile4144Leu)
c.12424A>C (p.Ile4142Leu)
c.12400A>C (p.Ile4134Leu)
c.12223A>C (p.Ile4075Leu)
c.12367A>C (p.Ile4123Leu)
c.12439A>C (p.Ile4147Leu)
1g.237784118A>GCA345413147RYR2c.*3498A>G (n.*3498A>G)
c.12394A>G (p.Ile4132Val)
c.12427A>G (p.Ile4143Val)
c.4583A>G
c.12406A>G (p.Ile4136Val)
c.2459A>G
c.12358A>G (p.Ile4120Val)
n.3601A>G
c.12460A>G (p.Ile4154Val)
c.12457A>G (p.Ile4153Val)
c.12436A>G (p.Ile4146Val)
c.12430A>G (p.Ile4144Val)
c.12424A>G (p.Ile4142Val)
c.12400A>G (p.Ile4134Val)
c.12223A>G (p.Ile4075Val)
c.12367A>G (p.Ile4123Val)
c.12439A>G (p.Ile4147Val)
1g.237784118A>TCA345413146RYR2c.*3498A>T (n.*3498A>T)
c.12394A>T (p.Ile4132Phe)
c.12427A>T (p.Ile4143Phe)
c.4583A>T
c.12406A>T (p.Ile4136Phe)
c.2459A>T
c.12358A>T (p.Ile4120Phe)
n.3601A>T
c.12460A>T (p.Ile4154Phe)
c.12457A>T (p.Ile4153Phe)
c.12436A>T (p.Ile4146Phe)
c.12430A>T (p.Ile4144Phe)
c.12424A>T (p.Ile4142Phe)
c.12400A>T (p.Ile4134Phe)
c.12223A>T (p.Ile4075Phe)
c.12367A>T (p.Ile4123Phe)
c.12439A>T (p.Ile4147Phe)
1g.237784119T>ACA345413148RYR2c.*3499T>A (n.*3499T>A)
c.12395T>A (p.Ile4132Asn)
c.12428T>A (p.Ile4143Asn)
c.4584T>A
c.12407T>A (p.Ile4136Asn)
c.2460T>A
c.12359T>A (p.Ile4120Asn)
n.3602T>A
c.12461T>A (p.Ile4154Asn)
c.12458T>A (p.Ile4153Asn)
c.12437T>A (p.Ile4146Asn)
c.12431T>A (p.Ile4144Asn)
c.12425T>A (p.Ile4142Asn)
c.12401T>A (p.Ile4134Asn)
c.12224T>A (p.Ile4075Asn)
c.12368T>A (p.Ile4123Asn)
c.12440T>A (p.Ile4147Asn)
1g.237784119T>CCA345413149RYR2c.*3499T>C (n.*3499T>C)
c.12395T>C (p.Ile4132Thr)
c.12428T>C (p.Ile4143Thr)
c.4584T>C
c.12407T>C (p.Ile4136Thr)
c.2460T>C
c.12359T>C (p.Ile4120Thr)
n.3602T>C
c.12461T>C (p.Ile4154Thr)
c.12458T>C (p.Ile4153Thr)
c.12437T>C (p.Ile4146Thr)
c.12431T>C (p.Ile4144Thr)
c.12425T>C (p.Ile4142Thr)
c.12401T>C (p.Ile4134Thr)
c.12224T>C (p.Ile4075Thr)
c.12368T>C (p.Ile4123Thr)
c.12440T>C (p.Ile4147Thr)
1g.237784119T>GCA345413150RYR2c.*3499T>G (n.*3499T>G)
c.12395T>G (p.Ile4132Ser)
c.12428T>G (p.Ile4143Ser)
c.4584T>G
c.12407T>G (p.Ile4136Ser)
c.2460T>G
c.12359T>G (p.Ile4120Ser)
n.3602T>G
c.12461T>G (p.Ile4154Ser)
c.12458T>G (p.Ile4153Ser)
c.12437T>G (p.Ile4146Ser)
c.12431T>G (p.Ile4144Ser)
c.12425T>G (p.Ile4142Ser)
c.12401T>G (p.Ile4134Ser)
c.12224T>G (p.Ile4075Ser)
c.12368T>G (p.Ile4123Ser)
c.12440T>G (p.Ile4147Ser)
1g.237784120C>ACA424032150RYR2c.*3500C>A (n.*3500C>A)
c.12396C>A (p.Ile4132=)
c.12429C>A (p.Ile4143=)
c.4585C>A
c.12408C>A (p.Ile4136=)
c.2461C>A
c.12360C>A (p.Ile4120=)
n.3603C>A
c.12462C>A (p.Ile4154=)
c.12459C>A (p.Ile4153=)
c.12438C>A (p.Ile4146=)
c.12432C>A (p.Ile4144=)
c.12426C>A (p.Ile4142=)
c.12402C>A (p.Ile4134=)
c.12225C>A (p.Ile4075=)
c.12369C>A (p.Ile4123=)
c.12441C>A (p.Ile4147=)
 dbSNP gnomAD v2 gnomAD v4
1g.237784120C=CA2487482392RYR2c.*3500C= (n.*3500C=)
c.12396C= (p.Ile4132=)
c.12429C= (p.Ile4143=)
c.4585C=
c.12408C= (p.Ile4136=)
c.2461C=
c.12360C= (p.Ile4120=)
n.3603C=
c.12462C= (p.Ile4154=)
c.12459C= (p.Ile4153=)
c.12438C= (p.Ile4146=)
c.12432C= (p.Ile4144=)
c.12426C= (p.Ile4142=)
c.12402C= (p.Ile4134=)
c.12225C= (p.Ile4075=)
c.12369C= (p.Ile4123=)
c.12441C= (p.Ile4147=)
1g.237784120C>GCA345413151RYR2c.*3500C>G (n.*3500C>G)
c.12396C>G (p.Ile4132Met)
c.12429C>G (p.Ile4143Met)
c.4585C>G
c.12408C>G (p.Ile4136Met)
c.2461C>G
c.12360C>G (p.Ile4120Met)
n.3603C>G
c.12462C>G (p.Ile4154Met)
c.12459C>G (p.Ile4153Met)
c.12438C>G (p.Ile4146Met)
c.12432C>G (p.Ile4144Met)
c.12426C>G (p.Ile4142Met)
c.12402C>G (p.Ile4134Met)
c.12225C>G (p.Ile4075Met)
c.12369C>G (p.Ile4123Met)
c.12441C>G (p.Ile4147Met)
 gnomAD v4
1g.237784120C>TCA424032149RYR2c.*3500C>T (n.*3500C>T)
c.12396C>T (p.Ile4132=)
c.12429C>T (p.Ile4143=)
c.4585C>T
c.12408C>T (p.Ile4136=)
c.2461C>T
c.12360C>T (p.Ile4120=)
n.3603C>T
c.12462C>T (p.Ile4154=)
c.12459C>T (p.Ile4153=)
c.12438C>T (p.Ile4146=)
c.12432C>T (p.Ile4144=)
c.12426C>T (p.Ile4142=)
c.12402C>T (p.Ile4134=)
c.12225C>T (p.Ile4075=)
c.12369C>T (p.Ile4123=)
c.12441C>T (p.Ile4147=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
1g.237784121G>ACA39827584RYR2c.*3501G>A (n.*3501G>A)
c.12397G>A (p.Glu4133Lys)
c.12430G>A (p.Glu4144Lys)
c.4586G>A
c.12409G>A (p.Glu4137Lys)
c.2462G>A
c.12361G>A (p.Glu4121Lys)
n.3604G>A
c.12463G>A (p.Glu4155Lys)
c.12460G>A (p.Glu4154Lys)
c.12439G>A (p.Glu4147Lys)
c.12433G>A (p.Glu4145Lys)
c.12427G>A (p.Glu4143Lys)
c.12403G>A (p.Glu4135Lys)
c.12226G>A (p.Glu4076Lys)
c.12370G>A (p.Glu4124Lys)
c.12442G>A (p.Glu4148Lys)
 dbSNP gnomAD v4 COSMIC COSMIC
1g.237784121G>CCA345413153RYR2c.*3501G>C (n.*3501G>C)
c.12397G>C (p.Glu4133Gln)
c.12430G>C (p.Glu4144Gln)
c.4586G>C
c.12409G>C (p.Glu4137Gln)
c.2462G>C
c.12361G>C (p.Glu4121Gln)
n.3604G>C
c.12463G>C (p.Glu4155Gln)
c.12460G>C (p.Glu4154Gln)
c.12439G>C (p.Glu4147Gln)
c.12433G>C (p.Glu4145Gln)
c.12427G>C (p.Glu4143Gln)
c.12403G>C (p.Glu4135Gln)
c.12226G>C (p.Glu4076Gln)
c.12370G>C (p.Glu4124Gln)
c.12442G>C (p.Glu4148Gln)
1g.237784121G=CA1143537613RYR2c.*3501G= (n.*3501G=)
c.12397G= (p.Glu4133=)
c.12430G= (p.Glu4144=)
c.4586G=
c.12409G= (p.Glu4137=)
c.2462G=
c.12361G= (p.Glu4121=)
n.3604G=
c.12463G= (p.Glu4155=)
c.12460G= (p.Glu4154=)
c.12439G= (p.Glu4147=)
c.12433G= (p.Glu4145=)
c.12427G= (p.Glu4143=)
c.12403G= (p.Glu4135=)
c.12226G= (p.Glu4076=)
c.12370G= (p.Glu4124=)
c.12442G= (p.Glu4148=)
1g.237784121G>TCA39827589RYR2c.*3501G>T (n.*3501G>T)
c.12397G>T (p.Glu4133Ter)
c.12430G>T (p.Glu4144Ter)
c.4586G>T
c.12409G>T (p.Glu4137Ter)
c.2462G>T
c.12361G>T (p.Glu4121Ter)
n.3604G>T
c.12463G>T (p.Glu4155Ter)
c.12460G>T (p.Glu4154Ter)
c.12439G>T (p.Glu4147Ter)
c.12433G>T (p.Glu4145Ter)
c.12427G>T (p.Glu4143Ter)
c.12403G>T (p.Glu4135Ter)
c.12226G>T (p.Glu4076Ter)
c.12370G>T (p.Glu4124Ter)
c.12442G>T (p.Glu4148Ter)
 dbSNP
1g.237784121dupCA2651213123RYR2c.*3501dup (n.*3501dup)
c.12397dup (p.Glu4133GlyfsTer15)
c.12430dup (p.Glu4144GlyfsTer15)
c.4586dup
c.12409dup (p.Glu4137GlyfsTer15)
c.2462dup
c.12361dup (p.Glu4121GlyfsTer15)
n.3604dup
c.12463dup (p.Glu4155GlyfsTer15)
c.12460dup (p.Glu4154GlyfsTer15)
c.12439dup (p.Glu4147GlyfsTer15)
c.12433dup (p.Glu4145GlyfsTer15)
c.12427dup (p.Glu4143GlyfsTer15)
c.12403dup (p.Glu4135GlyfsTer15)
c.12226dup (p.Glu4076GlyfsTer15)
c.12370dup (p.Glu4124GlyfsTer15)
c.12442dup (p.Glu4148GlyfsTer15)
 gnomAD v4
1g.237784122A>CCA345413154RYR2c.*3502A>C (n.*3502A>C)
c.12398A>C (p.Glu4133Ala)
c.12431A>C (p.Glu4144Ala)
c.4587A>C
c.12410A>C (p.Glu4137Ala)
c.2463A>C
c.12362A>C (p.Glu4121Ala)
n.3605A>C
c.12464A>C (p.Glu4155Ala)
c.12461A>C (p.Glu4154Ala)
c.12440A>C (p.Glu4147Ala)
c.12434A>C (p.Glu4145Ala)
c.12428A>C (p.Glu4143Ala)
c.12404A>C (p.Glu4135Ala)
c.12227A>C (p.Glu4076Ala)
c.12371A>C (p.Glu4124Ala)
c.12443A>C (p.Glu4148Ala)
1g.237784122A>GCA345413155RYR2c.*3502A>G (n.*3502A>G)
c.12398A>G (p.Glu4133Gly)
c.12431A>G (p.Glu4144Gly)
c.4587A>G
c.12410A>G (p.Glu4137Gly)
c.2463A>G
c.12362A>G (p.Glu4121Gly)
n.3605A>G
c.12464A>G (p.Glu4155Gly)
c.12461A>G (p.Glu4154Gly)
c.12440A>G (p.Glu4147Gly)
c.12434A>G (p.Glu4145Gly)
c.12428A>G (p.Glu4143Gly)
c.12404A>G (p.Glu4135Gly)
c.12227A>G (p.Glu4076Gly)
c.12371A>G (p.Glu4124Gly)
c.12443A>G (p.Glu4148Gly)
1g.237784122A>TCA345413157RYR2c.*3502A>T (n.*3502A>T)
c.12398A>T (p.Glu4133Val)
c.12431A>T (p.Glu4144Val)
c.4587A>T
c.12410A>T (p.Glu4137Val)
c.2463A>T
c.12362A>T (p.Glu4121Val)
n.3605A>T
c.12464A>T (p.Glu4155Val)
c.12461A>T (p.Glu4154Val)
c.12440A>T (p.Glu4147Val)
c.12434A>T (p.Glu4145Val)
c.12428A>T (p.Glu4143Val)
c.12404A>T (p.Glu4135Val)
c.12227A>T (p.Glu4076Val)
c.12371A>T (p.Glu4124Val)
c.12443A>T (p.Glu4148Val)
1g.237784123A>CCA345413158RYR2c.*3503A>C (n.*3503A>C)
c.12399A>C (p.Glu4133Asp)
c.12432A>C (p.Glu4144Asp)
c.4588A>C
c.12411A>C (p.Glu4137Asp)
c.2464A>C
c.12363A>C (p.Glu4121Asp)
n.3606A>C
c.12465A>C (p.Glu4155Asp)
c.12462A>C (p.Glu4154Asp)
c.12441A>C (p.Glu4147Asp)
c.12435A>C (p.Glu4145Asp)
c.12429A>C (p.Glu4143Asp)
c.12405A>C (p.Glu4135Asp)
c.12228A>C (p.Glu4076Asp)
c.12372A>C (p.Glu4124Asp)
c.12444A>C (p.Glu4148Asp)
1g.237784123A>GCA424032154RYR2c.*3503A>G (n.*3503A>G)
c.12399A>G (p.Glu4133=)
c.12432A>G (p.Glu4144=)
c.4588A>G
c.12411A>G (p.Glu4137=)
c.2464A>G
c.12363A>G (p.Glu4121=)
n.3606A>G
c.12465A>G (p.Glu4155=)
c.12462A>G (p.Glu4154=)
c.12441A>G (p.Glu4147=)
c.12435A>G (p.Glu4145=)
c.12429A>G (p.Glu4143=)
c.12405A>G (p.Glu4135=)
c.12228A>G (p.Glu4076=)
c.12372A>G (p.Glu4124=)
c.12444A>G (p.Glu4148=)
1g.237784123A>TCA345413159RYR2c.*3503A>T (n.*3503A>T)
c.12399A>T (p.Glu4133Asp)
c.12432A>T (p.Glu4144Asp)
c.4588A>T
c.12411A>T (p.Glu4137Asp)
c.2464A>T
c.12363A>T (p.Glu4121Asp)
n.3606A>T
c.12465A>T (p.Glu4155Asp)
c.12462A>T (p.Glu4154Asp)
c.12441A>T (p.Glu4147Asp)
c.12435A>T (p.Glu4145Asp)
c.12429A>T (p.Glu4143Asp)
c.12405A>T (p.Glu4135Asp)
c.12228A>T (p.Glu4076Asp)
c.12372A>T (p.Glu4124Asp)
c.12444A>T (p.Glu4148Asp)
1g.237784124A>CCA345413162RYR2c.*3504A>C (n.*3504A>C)
c.12400A>C (p.Ile4134Leu)
c.12433A>C (p.Ile4145Leu)
c.4589A>C
c.12412A>C (p.Ile4138Leu)
c.2465A>C
c.12364A>C (p.Ile4122Leu)
n.3607A>C
c.12466A>C (p.Ile4156Leu)
c.12463A>C (p.Ile4155Leu)
c.12442A>C (p.Ile4148Leu)
c.12436A>C (p.Ile4146Leu)
c.12430A>C (p.Ile4144Leu)
c.12406A>C (p.Ile4136Leu)
c.12229A>C (p.Ile4077Leu)
c.12373A>C (p.Ile4125Leu)
c.12445A>C (p.Ile4149Leu)
1g.237784124A>GCA345413163RYR2c.*3504A>G (n.*3504A>G)
c.12400A>G (p.Ile4134Val)
c.12433A>G (p.Ile4145Val)
c.4589A>G
c.12412A>G (p.Ile4138Val)
c.2465A>G
c.12364A>G (p.Ile4122Val)
n.3607A>G
c.12466A>G (p.Ile4156Val)
c.12463A>G (p.Ile4155Val)
c.12442A>G (p.Ile4148Val)
c.12436A>G (p.Ile4146Val)
c.12430A>G (p.Ile4144Val)
c.12406A>G (p.Ile4136Val)
c.12229A>G (p.Ile4077Val)
c.12373A>G (p.Ile4125Val)
c.12445A>G (p.Ile4149Val)
1g.237784124A>TCA345413161RYR2c.*3504A>T (n.*3504A>T)
c.12400A>T (p.Ile4134Phe)
c.12433A>T (p.Ile4145Phe)
c.4589A>T
c.12412A>T (p.Ile4138Phe)
c.2465A>T
c.12364A>T (p.Ile4122Phe)
n.3607A>T
c.12466A>T (p.Ile4156Phe)
c.12463A>T (p.Ile4155Phe)
c.12442A>T (p.Ile4148Phe)
c.12436A>T (p.Ile4146Phe)
c.12430A>T (p.Ile4144Phe)
c.12406A>T (p.Ile4136Phe)
c.12229A>T (p.Ile4077Phe)
c.12373A>T (p.Ile4125Phe)
c.12445A>T (p.Ile4149Phe)
1g.237784125T>ACA345413164RYR2c.*3505T>A (n.*3505T>A)
c.12401T>A (p.Ile4134Asn)
c.12434T>A (p.Ile4145Asn)
c.4590T>A
c.12413T>A (p.Ile4138Asn)
c.2466T>A
c.12365T>A (p.Ile4122Asn)
n.3608T>A
c.12467T>A (p.Ile4156Asn)
c.12464T>A (p.Ile4155Asn)
c.12443T>A (p.Ile4148Asn)
c.12437T>A (p.Ile4146Asn)
c.12431T>A (p.Ile4144Asn)
c.12407T>A (p.Ile4136Asn)
c.12230T>A (p.Ile4077Asn)
c.12374T>A (p.Ile4125Asn)
c.12446T>A (p.Ile4149Asn)
1g.237784125T>CCA345413166RYR2c.*3505T>C (n.*3505T>C)
c.12401T>C (p.Ile4134Thr)
c.12434T>C (p.Ile4145Thr)
c.4590T>C
c.12413T>C (p.Ile4138Thr)
c.2466T>C
c.12365T>C (p.Ile4122Thr)
n.3608T>C
c.12467T>C (p.Ile4156Thr)
c.12464T>C (p.Ile4155Thr)
c.12443T>C (p.Ile4148Thr)
c.12437T>C (p.Ile4146Thr)
c.12431T>C (p.Ile4144Thr)
c.12407T>C (p.Ile4136Thr)
c.12230T>C (p.Ile4077Thr)
c.12374T>C (p.Ile4125Thr)
c.12446T>C (p.Ile4149Thr)
1g.237784125T>GCA345413169RYR2c.*3505T>G (n.*3505T>G)
c.12401T>G (p.Ile4134Ser)
c.12434T>G (p.Ile4145Ser)
c.4590T>G
c.12413T>G (p.Ile4138Ser)
c.2466T>G
c.12365T>G (p.Ile4122Ser)
n.3608T>G
c.12467T>G (p.Ile4156Ser)
c.12464T>G (p.Ile4155Ser)
c.12443T>G (p.Ile4148Ser)
c.12437T>G (p.Ile4146Ser)
c.12431T>G (p.Ile4144Ser)
c.12407T>G (p.Ile4136Ser)
c.12230T>G (p.Ile4077Ser)
c.12374T>G (p.Ile4125Ser)
c.12446T>G (p.Ile4149Ser)
1g.237784126C>ACA424032155RYR2c.*3506C>A (n.*3506C>A)
c.12402C>A (p.Ile4134=)
c.12435C>A (p.Ile4145=)
c.4591C>A
c.12414C>A (p.Ile4138=)
c.2467C>A
c.12366C>A (p.Ile4122=)
n.3609C>A
c.12468C>A (p.Ile4156=)
c.12465C>A (p.Ile4155=)
c.12444C>A (p.Ile4148=)
c.12438C>A (p.Ile4146=)
c.12432C>A (p.Ile4144=)
c.12408C>A (p.Ile4136=)
c.12231C>A (p.Ile4077=)
c.12375C>A (p.Ile4125=)
c.12447C>A (p.Ile4149=)
1g.237784126C>GCA345413170RYR2c.*3506C>G (n.*3506C>G)
c.12402C>G (p.Ile4134Met)
c.12435C>G (p.Ile4145Met)
c.4591C>G
c.12414C>G (p.Ile4138Met)
c.2467C>G
c.12366C>G (p.Ile4122Met)
n.3609C>G
c.12468C>G (p.Ile4156Met)
c.12465C>G (p.Ile4155Met)
c.12444C>G (p.Ile4148Met)
c.12438C>G (p.Ile4146Met)
c.12432C>G (p.Ile4144Met)
c.12408C>G (p.Ile4136Met)
c.12231C>G (p.Ile4077Met)
c.12375C>G (p.Ile4125Met)
c.12447C>G (p.Ile4149Met)
1g.237784126C>TCA424032156RYR2c.*3506C>T (n.*3506C>T)
c.12402C>T (p.Ile4134=)
c.12435C>T (p.Ile4145=)
c.4591C>T
c.12414C>T (p.Ile4138=)
c.2467C>T
c.12366C>T (p.Ile4122=)
n.3609C>T
c.12468C>T (p.Ile4156=)
c.12465C>T (p.Ile4155=)
c.12444C>T (p.Ile4148=)
c.12438C>T (p.Ile4146=)
c.12432C>T (p.Ile4144=)
c.12408C>T (p.Ile4136=)
c.12231C>T (p.Ile4077=)
c.12375C>T (p.Ile4125=)
c.12447C>T (p.Ile4149=)
1g.237784127A=CA2487482393RYR2c.*3507A= (n.*3507A=)
c.12403A= (p.Met4135=)
c.12436A= (p.Met4146=)
c.4592A=
c.12415A= (p.Met4139=)
c.2468A=
c.12367A= (p.Met4123=)
n.3610A=
c.12469A= (p.Met4157=)
c.12466A= (p.Met4156=)
c.12445A= (p.Met4149=)
c.12439A= (p.Met4147=)
c.12433A= (p.Met4145=)
c.12409A= (p.Met4137=)
c.12232A= (p.Met4078=)
c.12376A= (p.Met4126=)
c.12448A= (p.Met4150=)
1g.237784127A>CCA345413175RYR2c.*3507A>C (n.*3507A>C)
c.12403A>C (p.Met4135Leu)
c.12436A>C (p.Met4146Leu)
c.4592A>C
c.12415A>C (p.Met4139Leu)
c.2468A>C
c.12367A>C (p.Met4123Leu)
n.3610A>C
c.12469A>C (p.Met4157Leu)
c.12466A>C (p.Met4156Leu)
c.12445A>C (p.Met4149Leu)
c.12439A>C (p.Met4147Leu)
c.12433A>C (p.Met4145Leu)
c.12409A>C (p.Met4137Leu)
c.12232A>C (p.Met4078Leu)
c.12376A>C (p.Met4126Leu)
c.12448A>C (p.Met4150Leu)
1g.237784127A>GCA345413174RYR2c.*3507A>G (n.*3507A>G)
c.12403A>G (p.Met4135Val)
c.12436A>G (p.Met4146Val)
c.4592A>G
c.12415A>G (p.Met4139Val)
c.2468A>G
c.12367A>G (p.Met4123Val)
n.3610A>G
c.12469A>G (p.Met4157Val)
c.12466A>G (p.Met4156Val)
c.12445A>G (p.Met4149Val)
c.12439A>G (p.Met4147Val)
c.12433A>G (p.Met4145Val)
c.12409A>G (p.Met4137Val)
c.12232A>G (p.Met4078Val)
c.12376A>G (p.Met4126Val)
c.12448A>G (p.Met4150Val)
 ClinVar dbSNP gnomAD v4
1g.237784127A>TCA345413171RYR2c.*3507A>T (n.*3507A>T)
c.12403A>T (p.Met4135Leu)
c.12436A>T (p.Met4146Leu)
c.4592A>T
c.12415A>T (p.Met4139Leu)
c.2468A>T
c.12367A>T (p.Met4123Leu)
n.3610A>T
c.12469A>T (p.Met4157Leu)
c.12466A>T (p.Met4156Leu)
c.12445A>T (p.Met4149Leu)
c.12439A>T (p.Met4147Leu)
c.12433A>T (p.Met4145Leu)
c.12409A>T (p.Met4137Leu)
c.12232A>T (p.Met4078Leu)
c.12376A>T (p.Met4126Leu)
c.12448A>T (p.Met4150Leu)
1g.237784128T>ACA345413177RYR2c.*3508T>A (n.*3508T>A)
c.12404T>A (p.Met4135Lys)
c.12437T>A (p.Met4146Lys)
c.4593T>A
c.12416T>A (p.Met4139Lys)
c.2469T>A
c.12368T>A (p.Met4123Lys)
n.3611T>A
c.12470T>A (p.Met4157Lys)
c.12467T>A (p.Met4156Lys)
c.12446T>A (p.Met4149Lys)
c.12440T>A (p.Met4147Lys)
c.12434T>A (p.Met4145Lys)
c.12410T>A (p.Met4137Lys)
c.12233T>A (p.Met4078Lys)
c.12377T>A (p.Met4126Lys)
c.12449T>A (p.Met4150Lys)
1g.237784128T>CCA085180RYR2c.*3508T>C (n.*3508T>C)
c.12404T>C (p.Met4135Thr)
c.12437T>C (p.Met4146Thr)
c.4593T>C
c.12416T>C (p.Met4139Thr)
c.2469T>C
c.12368T>C (p.Met4123Thr)
n.3611T>C
c.12470T>C (p.Met4157Thr)
c.12467T>C (p.Met4156Thr)
c.12446T>C (p.Met4149Thr)
c.12440T>C (p.Met4147Thr)
c.12434T>C (p.Met4145Thr)
c.12410T>C (p.Met4137Thr)
c.12233T>C (p.Met4078Thr)
c.12377T>C (p.Met4126Thr)
c.12449T>C (p.Met4150Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.237784128T>GCA345413179RYR2c.*3508T>G (n.*3508T>G)
c.12404T>G (p.Met4135Arg)
c.12437T>G (p.Met4146Arg)
c.4593T>G
c.12416T>G (p.Met4139Arg)
c.2469T>G
c.12368T>G (p.Met4123Arg)
n.3611T>G
c.12470T>G (p.Met4157Arg)
c.12467T>G (p.Met4156Arg)
c.12446T>G (p.Met4149Arg)
c.12440T>G (p.Met4147Arg)
c.12434T>G (p.Met4145Arg)
c.12410T>G (p.Met4137Arg)
c.12233T>G (p.Met4078Arg)
c.12377T>G (p.Met4126Arg)
c.12449T>G (p.Met4150Arg)
1g.237784128T=CA2487482394RYR2c.*3508T= (n.*3508T=)
c.12404T= (p.Met4135=)
c.12437T= (p.Met4146=)
c.4593T=
c.12416T= (p.Met4139=)
c.2469T=
c.12368T= (p.Met4123=)
n.3611T=
c.12470T= (p.Met4157=)
c.12467T= (p.Met4156=)
c.12446T= (p.Met4149=)
c.12440T= (p.Met4147=)
c.12434T= (p.Met4145=)
c.12410T= (p.Met4137=)
c.12233T= (p.Met4078=)
c.12377T= (p.Met4126=)
c.12449T= (p.Met4150=)
1g.237784129G>ACA345413181RYR2c.*3509G>A (n.*3509G>A)
c.12405G>A (p.Met4135Ile)
c.12438G>A (p.Met4146Ile)
c.4594G>A
c.12417G>A (p.Met4139Ile)
c.2470G>A
c.12369G>A (p.Met4123Ile)
n.3612G>A
c.12471G>A (p.Met4157Ile)
c.12468G>A (p.Met4156Ile)
c.12447G>A (p.Met4149Ile)
c.12441G>A (p.Met4147Ile)
c.12435G>A (p.Met4145Ile)
c.12411G>A (p.Met4137Ile)
c.12234G>A (p.Met4078Ile)
c.12378G>A (p.Met4126Ile)
c.12450G>A (p.Met4150Ile)
1g.237784129G>CCA345413183RYR2c.*3509G>C (n.*3509G>C)
c.12405G>C (p.Met4135Ile)
c.12438G>C (p.Met4146Ile)
c.4594G>C
c.12417G>C (p.Met4139Ile)
c.2470G>C
c.12369G>C (p.Met4123Ile)
n.3612G>C
c.12471G>C (p.Met4157Ile)
c.12468G>C (p.Met4156Ile)
c.12447G>C (p.Met4149Ile)
c.12441G>C (p.Met4147Ile)
c.12435G>C (p.Met4145Ile)
c.12411G>C (p.Met4137Ile)
c.12234G>C (p.Met4078Ile)
c.12378G>C (p.Met4126Ile)
c.12450G>C (p.Met4150Ile)
1g.237784129G>TCA345413185RYR2c.*3509G>T (n.*3509G>T)
c.12405G>T (p.Met4135Ile)
c.12438G>T (p.Met4146Ile)
c.4594G>T
c.12417G>T (p.Met4139Ile)
c.2470G>T
c.12369G>T (p.Met4123Ile)
n.3612G>T
c.12471G>T (p.Met4157Ile)
c.12468G>T (p.Met4156Ile)
c.12447G>T (p.Met4149Ile)
c.12441G>T (p.Met4147Ile)
c.12435G>T (p.Met4145Ile)
c.12411G>T (p.Met4137Ile)
c.12234G>T (p.Met4078Ile)
c.12378G>T (p.Met4126Ile)
c.12450G>T (p.Met4150Ile)
1g.237784131delCA2651213124RYR2c.*3511del (n.*3511del)
c.12407del (p.Gly4136GlufsTer?)
c.12440del (p.Gly4147GlufsTer?)
c.4596del
c.12419del (p.Gly4140GlufsTer?)
c.2472del
c.12371del (p.Gly4124GlufsTer?)
n.3614del
c.12473del (p.Gly4158GlufsTer?)
c.12470del (p.Gly4157GlufsTer?)
c.12449del (p.Gly4150GlufsTer?)
c.12443del (p.Gly4148GlufsTer?)
c.12437del (p.Gly4146GlufsTer?)
c.12413del (p.Gly4138GlufsTer?)
c.12236del (p.Gly4079GlufsTer?)
c.12380del (p.Gly4127GlufsTer?)
c.12452del (p.Gly4151GlufsTer?)
 gnomAD v4
1g.237784130G>ACA345413186RYR2c.*3510G>A (n.*3510G>A)
c.12406G>A (p.Gly4136Arg)
c.12439G>A (p.Gly4147Arg)
c.4595G>A
c.12418G>A (p.Gly4140Arg)
c.2471G>A
c.12370G>A (p.Gly4124Arg)
n.3613G>A
c.12472G>A (p.Gly4158Arg)
c.12469G>A (p.Gly4157Arg)
c.12448G>A (p.Gly4150Arg)
c.12442G>A (p.Gly4148Arg)
c.12436G>A (p.Gly4146Arg)
c.12412G>A (p.Gly4138Arg)
c.12235G>A (p.Gly4079Arg)
c.12379G>A (p.Gly4127Arg)
c.12451G>A (p.Gly4151Arg)
1g.237784130G>CCA345413190RYR2c.*3510G>C (n.*3510G>C)
c.12406G>C (p.Gly4136Arg)
c.12439G>C (p.Gly4147Arg)
c.4595G>C
c.12418G>C (p.Gly4140Arg)
c.2471G>C
c.12370G>C (p.Gly4124Arg)
n.3613G>C
c.12472G>C (p.Gly4158Arg)
c.12469G>C (p.Gly4157Arg)
c.12448G>C (p.Gly4150Arg)
c.12442G>C (p.Gly4148Arg)
c.12436G>C (p.Gly4146Arg)
c.12412G>C (p.Gly4138Arg)
c.12235G>C (p.Gly4079Arg)
c.12379G>C (p.Gly4127Arg)
c.12451G>C (p.Gly4151Arg)
1g.237784130G>TCA345413188RYR2c.*3510G>T (n.*3510G>T)
c.12406G>T (p.Gly4136Ter)
c.12439G>T (p.Gly4147Ter)
c.4595G>T
c.12418G>T (p.Gly4140Ter)
c.2471G>T
c.12370G>T (p.Gly4124Ter)
n.3613G>T
c.12472G>T (p.Gly4158Ter)
c.12469G>T (p.Gly4157Ter)
c.12448G>T (p.Gly4150Ter)
c.12442G>T (p.Gly4148Ter)
c.12436G>T (p.Gly4146Ter)
c.12412G>T (p.Gly4138Ter)
c.12235G>T (p.Gly4079Ter)
c.12379G>T (p.Gly4127Ter)
c.12451G>T (p.Gly4151Ter)
1g.237784131G>ACA345413192RYR2c.*3511G>A (n.*3511G>A)
c.12407G>A (p.Gly4136Glu)
c.12440G>A (p.Gly4147Glu)
c.4596G>A
c.12419G>A (p.Gly4140Glu)
c.2472G>A
c.12371G>A (p.Gly4124Glu)
n.3614G>A
c.12473G>A (p.Gly4158Glu)
c.12470G>A (p.Gly4157Glu)
c.12449G>A (p.Gly4150Glu)
c.12443G>A (p.Gly4148Glu)
c.12437G>A (p.Gly4146Glu)
c.12413G>A (p.Gly4138Glu)
c.12236G>A (p.Gly4079Glu)
c.12380G>A (p.Gly4127Glu)
c.12452G>A (p.Gly4151Glu)
1g.237784131G>CCA345413193RYR2c.*3511G>C (n.*3511G>C)
c.12407G>C (p.Gly4136Ala)
c.12440G>C (p.Gly4147Ala)
c.4596G>C
c.12419G>C (p.Gly4140Ala)
c.2472G>C
c.12371G>C (p.Gly4124Ala)
n.3614G>C
c.12473G>C (p.Gly4158Ala)
c.12470G>C (p.Gly4157Ala)
c.12449G>C (p.Gly4150Ala)
c.12443G>C (p.Gly4148Ala)
c.12437G>C (p.Gly4146Ala)
c.12413G>C (p.Gly4138Ala)
c.12236G>C (p.Gly4079Ala)
c.12380G>C (p.Gly4127Ala)
c.12452G>C (p.Gly4151Ala)
 ClinVar
1g.237784131G>TCA345413195RYR2c.*3511G>T (n.*3511G>T)
c.12407G>T (p.Gly4136Val)
c.12440G>T (p.Gly4147Val)
c.4596G>T
c.12419G>T (p.Gly4140Val)
c.2472G>T
c.12371G>T (p.Gly4124Val)
n.3614G>T
c.12473G>T (p.Gly4158Val)
c.12470G>T (p.Gly4157Val)
c.12449G>T (p.Gly4150Val)
c.12443G>T (p.Gly4148Val)
c.12437G>T (p.Gly4146Val)
c.12413G>T (p.Gly4138Val)
c.12236G>T (p.Gly4079Val)
c.12380G>T (p.Gly4127Val)
c.12452G>T (p.Gly4151Val)
1g.237784132A>CCA424032161RYR2c.*3512A>C (n.*3512A>C)
c.12408A>C (p.Gly4136=)
c.12441A>C (p.Gly4147=)
c.4597A>C
c.12420A>C (p.Gly4140=)
c.2473A>C
c.12372A>C (p.Gly4124=)
n.3615A>C
c.12474A>C (p.Gly4158=)
c.12471A>C (p.Gly4157=)
c.12450A>C (p.Gly4150=)
c.12444A>C (p.Gly4148=)
c.12438A>C (p.Gly4146=)
c.12414A>C (p.Gly4138=)
c.12237A>C (p.Gly4079=)
c.12381A>C (p.Gly4127=)
c.12453A>C (p.Gly4151=)
1g.237784132A>GCA424032162RYR2c.*3512A>G (n.*3512A>G)
c.12408A>G (p.Gly4136=)
c.12441A>G (p.Gly4147=)
c.4597A>G
c.12420A>G (p.Gly4140=)
c.2473A>G
c.12372A>G (p.Gly4124=)
n.3615A>G
c.12474A>G (p.Gly4158=)
c.12471A>G (p.Gly4157=)
c.12450A>G (p.Gly4150=)
c.12444A>G (p.Gly4148=)
c.12438A>G (p.Gly4146=)
c.12414A>G (p.Gly4138=)
c.12237A>G (p.Gly4079=)
c.12381A>G (p.Gly4127=)
c.12453A>G (p.Gly4151=)
1g.237784132A>TCA424032163RYR2c.*3512A>T (n.*3512A>T)
c.12408A>T (p.Gly4136=)
c.12441A>T (p.Gly4147=)
c.4597A>T
c.12420A>T (p.Gly4140=)
c.2473A>T
c.12372A>T (p.Gly4124=)
n.3615A>T
c.12474A>T (p.Gly4158=)
c.12471A>T (p.Gly4157=)
c.12450A>T (p.Gly4150=)
c.12444A>T (p.Gly4148=)
c.12438A>T (p.Gly4146=)
c.12414A>T (p.Gly4138=)
c.12237A>T (p.Gly4079=)
c.12381A>T (p.Gly4127=)
c.12453A>T (p.Gly4151=)
1g.237784133A>CCA345413198RYR2c.*3513A>C (n.*3513A>C)
c.12409A>C (p.Ser4137Arg)
c.12442A>C (p.Ser4148Arg)
c.4598A>C
c.12421A>C (p.Ser4141Arg)
c.2474A>C
c.12373A>C (p.Ser4125Arg)
n.3616A>C
c.12475A>C (p.Ser4159Arg)
c.12472A>C (p.Ser4158Arg)
c.12451A>C (p.Ser4151Arg)
c.12445A>C (p.Ser4149Arg)
c.12439A>C (p.Ser4147Arg)
c.12415A>C (p.Ser4139Arg)
c.12238A>C (p.Ser4080Arg)
c.12382A>C (p.Ser4128Arg)
c.12454A>C (p.Ser4152Arg)
1g.237784133A>GCA345413199RYR2c.*3513A>G (n.*3513A>G)
c.12409A>G (p.Ser4137Gly)
c.12442A>G (p.Ser4148Gly)
c.4598A>G
c.12421A>G (p.Ser4141Gly)
c.2474A>G
c.12373A>G (p.Ser4125Gly)
n.3616A>G
c.12475A>G (p.Ser4159Gly)
c.12472A>G (p.Ser4158Gly)
c.12451A>G (p.Ser4151Gly)
c.12445A>G (p.Ser4149Gly)
c.12439A>G (p.Ser4147Gly)
c.12415A>G (p.Ser4139Gly)
c.12238A>G (p.Ser4080Gly)
c.12382A>G (p.Ser4128Gly)
c.12454A>G (p.Ser4152Gly)
1g.237784133A>TCA345413201RYR2c.*3513A>T (n.*3513A>T)
c.12409A>T (p.Ser4137Cys)
c.12442A>T (p.Ser4148Cys)
c.4598A>T
c.12421A>T (p.Ser4141Cys)
c.2474A>T
c.12373A>T (p.Ser4125Cys)
n.3616A>T
c.12475A>T (p.Ser4159Cys)
c.12472A>T (p.Ser4158Cys)
c.12451A>T (p.Ser4151Cys)
c.12445A>T (p.Ser4149Cys)
c.12439A>T (p.Ser4147Cys)
c.12415A>T (p.Ser4139Cys)
c.12238A>T (p.Ser4080Cys)
c.12382A>T (p.Ser4128Cys)
c.12454A>T (p.Ser4152Cys)
1g.237784134G>ACA345413203RYR2c.*3514G>A (n.*3514G>A)
c.12410G>A (p.Ser4137Asn)
c.12443G>A (p.Ser4148Asn)
c.4599G>A
c.12422G>A (p.Ser4141Asn)
c.2475G>A
c.12374G>A (p.Ser4125Asn)
n.3617G>A
c.12476G>A (p.Ser4159Asn)
c.12473G>A (p.Ser4158Asn)
c.12452G>A (p.Ser4151Asn)
c.12446G>A (p.Ser4149Asn)
c.12440G>A (p.Ser4147Asn)
c.12416G>A (p.Ser4139Asn)
c.12239G>A (p.Ser4080Asn)
c.12383G>A (p.Ser4128Asn)
c.12455G>A (p.Ser4152Asn)
1g.237784134G>CCA345413205RYR2c.*3514G>C (n.*3514G>C)
c.12410G>C (p.Ser4137Thr)
c.12443G>C (p.Ser4148Thr)
c.4599G>C
c.12422G>C (p.Ser4141Thr)
c.2475G>C
c.12374G>C (p.Ser4125Thr)
n.3617G>C
c.12476G>C (p.Ser4159Thr)
c.12473G>C (p.Ser4158Thr)
c.12452G>C (p.Ser4151Thr)
c.12446G>C (p.Ser4149Thr)
c.12440G>C (p.Ser4147Thr)
c.12416G>C (p.Ser4139Thr)
c.12239G>C (p.Ser4080Thr)
c.12383G>C (p.Ser4128Thr)
c.12455G>C (p.Ser4152Thr)
1g.237784134G>TCA345413206RYR2c.*3514G>T (n.*3514G>T)
c.12410G>T (p.Ser4137Ile)
c.12443G>T (p.Ser4148Ile)
c.4599G>T
c.12422G>T (p.Ser4141Ile)
c.2475G>T
c.12374G>T (p.Ser4125Ile)
n.3617G>T
c.12476G>T (p.Ser4159Ile)
c.12473G>T (p.Ser4158Ile)
c.12452G>T (p.Ser4151Ile)
c.12446G>T (p.Ser4149Ile)
c.12440G>T (p.Ser4147Ile)
c.12416G>T (p.Ser4139Ile)
c.12239G>T (p.Ser4080Ile)
c.12383G>T (p.Ser4128Ile)
c.12455G>T (p.Ser4152Ile)
1g.237784135C>ACA345413208RYR2c.*3515C>A (n.*3515C>A)
c.12411C>A (p.Ser4137Arg)
c.12444C>A (p.Ser4148Arg)
c.4600C>A
c.12423C>A (p.Ser4141Arg)
c.2476C>A
c.12375C>A (p.Ser4125Arg)
n.3618C>A
c.12477C>A (p.Ser4159Arg)
c.12474C>A (p.Ser4158Arg)
c.12453C>A (p.Ser4151Arg)
c.12447C>A (p.Ser4149Arg)
c.12441C>A (p.Ser4147Arg)
c.12417C>A (p.Ser4139Arg)
c.12240C>A (p.Ser4080Arg)
c.12384C>A (p.Ser4128Arg)
c.12456C>A (p.Ser4152Arg)
1g.237784135C=CA2487482395RYR2c.*3515C= (n.*3515C=)
c.12411C= (p.Ser4137=)
c.12444C= (p.Ser4148=)
c.4600C=
c.12423C= (p.Ser4141=)
c.2476C=
c.12375C= (p.Ser4125=)
n.3618C=
c.12477C= (p.Ser4159=)
c.12474C= (p.Ser4158=)
c.12453C= (p.Ser4151=)
c.12447C= (p.Ser4149=)
c.12441C= (p.Ser4147=)
c.12417C= (p.Ser4139=)
c.12240C= (p.Ser4080=)
c.12384C= (p.Ser4128=)
c.12456C= (p.Ser4152=)
1g.237784135C>GCA345413210RYR2c.*3515C>G (n.*3515C>G)
c.12411C>G (p.Ser4137Arg)
c.12444C>G (p.Ser4148Arg)
c.4600C>G
c.12423C>G (p.Ser4141Arg)
c.2476C>G
c.12375C>G (p.Ser4125Arg)
n.3618C>G
c.12477C>G (p.Ser4159Arg)
c.12474C>G (p.Ser4158Arg)
c.12453C>G (p.Ser4151Arg)
c.12447C>G (p.Ser4149Arg)
c.12441C>G (p.Ser4147Arg)
c.12417C>G (p.Ser4139Arg)
c.12240C>G (p.Ser4080Arg)
c.12384C>G (p.Ser4128Arg)
c.12456C>G (p.Ser4152Arg)
 ClinVar
1g.237784135C>TCA39827599RYR2c.*3515C>T (n.*3515C>T)
c.12411C>T (p.Ser4137=)
c.12444C>T (p.Ser4148=)
c.4600C>T
c.12423C>T (p.Ser4141=)
c.2476C>T
c.12375C>T (p.Ser4125=)
n.3618C>T
c.12477C>T (p.Ser4159=)
c.12474C>T (p.Ser4158=)
c.12453C>T (p.Ser4151=)
c.12447C>T (p.Ser4149=)
c.12441C>T (p.Ser4147=)
c.12417C>T (p.Ser4139=)
c.12240C>T (p.Ser4080=)
c.12384C>T (p.Ser4128=)
c.12456C>T (p.Ser4152=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.237784136G>ACA085181RYR2c.*3516G>A (n.*3516G>A)
c.12412G>A (p.Ala4138Thr)
c.12445G>A (p.Ala4149Thr)
c.4601G>A
c.12424G>A (p.Ala4142Thr)
c.2477G>A
c.12376G>A (p.Ala4126Thr)
n.3619G>A
c.12478G>A (p.Ala4160Thr)
c.12475G>A (p.Ala4159Thr)
c.12454G>A (p.Ala4152Thr)
c.12448G>A (p.Ala4150Thr)
c.12442G>A (p.Ala4148Thr)
c.12418G>A (p.Ala4140Thr)
c.12241G>A (p.Ala4081Thr)
c.12385G>A (p.Ala4129Thr)
c.12457G>A (p.Ala4153Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.237784136G>CCA345413212RYR2c.*3516G>C (n.*3516G>C)
c.12412G>C (p.Ala4138Pro)
c.12445G>C (p.Ala4149Pro)
c.4601G>C
c.12424G>C (p.Ala4142Pro)
c.2477G>C
c.12376G>C (p.Ala4126Pro)
n.3619G>C
c.12478G>C (p.Ala4160Pro)
c.12475G>C (p.Ala4159Pro)
c.12454G>C (p.Ala4152Pro)
c.12448G>C (p.Ala4150Pro)
c.12442G>C (p.Ala4148Pro)
c.12418G>C (p.Ala4140Pro)
c.12241G>C (p.Ala4081Pro)
c.12385G>C (p.Ala4129Pro)
c.12457G>C (p.Ala4153Pro)
 ClinVar dbSNP
1g.237784136G=CA2487482396RYR2c.*3516G= (n.*3516G=)
c.12412G= (p.Ala4138=)
c.12445G= (p.Ala4149=)
c.4601G=
c.12424G= (p.Ala4142=)
c.2477G=
c.12376G= (p.Ala4126=)
n.3619G=
c.12478G= (p.Ala4160=)
c.12475G= (p.Ala4159=)
c.12454G= (p.Ala4152=)
c.12448G= (p.Ala4150=)
c.12442G= (p.Ala4148=)
c.12418G= (p.Ala4140=)
c.12241G= (p.Ala4081=)
c.12385G= (p.Ala4129=)
c.12457G= (p.Ala4153=)
1g.237784136G>TCA345413213RYR2c.*3516G>T (n.*3516G>T)
c.12412G>T (p.Ala4138Ser)
c.12445G>T (p.Ala4149Ser)
c.4601G>T
c.12424G>T (p.Ala4142Ser)
c.2477G>T
c.12376G>T (p.Ala4126Ser)
n.3619G>T
c.12478G>T (p.Ala4160Ser)
c.12475G>T (p.Ala4159Ser)
c.12454G>T (p.Ala4152Ser)
c.12448G>T (p.Ala4150Ser)
c.12442G>T (p.Ala4148Ser)
c.12418G>T (p.Ala4140Ser)
c.12241G>T (p.Ala4081Ser)
c.12385G>T (p.Ala4129Ser)
c.12457G>T (p.Ala4153Ser)
1g.237784137C>ACA345413217RYR2c.*3517C>A (n.*3517C>A)
c.12413C>A (p.Ala4138Asp)
c.12446C>A (p.Ala4149Asp)
c.4602C>A
c.12425C>A (p.Ala4142Asp)
c.2478C>A
c.12377C>A (p.Ala4126Asp)
n.3620C>A
c.12479C>A (p.Ala4160Asp)
c.12476C>A (p.Ala4159Asp)
c.12455C>A (p.Ala4152Asp)
c.12449C>A (p.Ala4150Asp)
c.12443C>A (p.Ala4148Asp)
c.12419C>A (p.Ala4140Asp)
c.12242C>A (p.Ala4081Asp)
c.12386C>A (p.Ala4129Asp)
c.12458C>A (p.Ala4153Asp)
1g.237784137C=CA2487482397RYR2c.*3517C= (n.*3517C=)
c.12413C= (p.Ala4138=)
c.12446C= (p.Ala4149=)
c.4602C=
c.12425C= (p.Ala4142=)
c.2478C=
c.12377C= (p.Ala4126=)
n.3620C=
c.12479C= (p.Ala4160=)
c.12476C= (p.Ala4159=)
c.12455C= (p.Ala4152=)
c.12449C= (p.Ala4150=)
c.12443C= (p.Ala4148=)
c.12419C= (p.Ala4140=)
c.12242C= (p.Ala4081=)
c.12386C= (p.Ala4129=)
c.12458C= (p.Ala4153=)
1g.237784137C>GCA345413216RYR2c.*3517C>G (n.*3517C>G)
c.12413C>G (p.Ala4138Gly)
c.12446C>G (p.Ala4149Gly)
c.4602C>G
c.12425C>G (p.Ala4142Gly)
c.2478C>G
c.12377C>G (p.Ala4126Gly)
n.3620C>G
c.12479C>G (p.Ala4160Gly)
c.12476C>G (p.Ala4159Gly)
c.12455C>G (p.Ala4152Gly)
c.12449C>G (p.Ala4150Gly)
c.12443C>G (p.Ala4148Gly)
c.12419C>G (p.Ala4140Gly)
c.12242C>G (p.Ala4081Gly)
c.12386C>G (p.Ala4129Gly)
c.12458C>G (p.Ala4153Gly)
1g.237784137C>TCA085182RYR2c.*3517C>T (n.*3517C>T)
c.12413C>T (p.Ala4138Val)
c.12446C>T (p.Ala4149Val)
c.4602C>T
c.12425C>T (p.Ala4142Val)
c.2478C>T
c.12377C>T (p.Ala4126Val)
n.3620C>T
c.12479C>T (p.Ala4160Val)
c.12476C>T (p.Ala4159Val)
c.12455C>T (p.Ala4152Val)
c.12449C>T (p.Ala4150Val)
c.12443C>T (p.Ala4148Val)
c.12419C>T (p.Ala4140Val)
c.12242C>T (p.Ala4081Val)
c.12386C>T (p.Ala4129Val)
c.12458C>T (p.Ala4153Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.237784138C>ACA424032170RYR2c.*3518C>A (n.*3518C>A)
c.12414C>A (p.Ala4138=)
c.12447C>A (p.Ala4149=)
c.4603C>A
c.12426C>A (p.Ala4142=)
c.2479C>A
c.12378C>A (p.Ala4126=)
n.3621C>A
c.12480C>A (p.Ala4160=)
c.12477C>A (p.Ala4159=)
c.12456C>A (p.Ala4152=)
c.12450C>A (p.Ala4150=)
c.12444C>A (p.Ala4148=)
c.12420C>A (p.Ala4140=)
c.12243C>A (p.Ala4081=)
c.12387C>A (p.Ala4129=)
c.12459C>A (p.Ala4153=)
1g.237784138C=CA2487482398RYR2c.*3518C= (n.*3518C=)
c.12414C= (p.Ala4138=)
c.12447C= (p.Ala4149=)
c.4603C=
c.12426C= (p.Ala4142=)
c.2479C=
c.12378C= (p.Ala4126=)
n.3621C=
c.12480C= (p.Ala4160=)
c.12477C= (p.Ala4159=)
c.12456C= (p.Ala4152=)
c.12450C= (p.Ala4150=)
c.12444C= (p.Ala4148=)
c.12420C= (p.Ala4140=)
c.12243C= (p.Ala4081=)
c.12387C= (p.Ala4129=)
c.12459C= (p.Ala4153=)
1g.237784138C>GCA424032173RYR2c.*3518C>G (n.*3518C>G)
c.12414C>G (p.Ala4138=)
c.12447C>G (p.Ala4149=)
c.4603C>G
c.12426C>G (p.Ala4142=)
c.2479C>G
c.12378C>G (p.Ala4126=)
n.3621C>G
c.12480C>G (p.Ala4160=)
c.12477C>G (p.Ala4159=)
c.12456C>G (p.Ala4152=)
c.12450C>G (p.Ala4150=)
c.12444C>G (p.Ala4148=)
c.12420C>G (p.Ala4140=)
c.12243C>G (p.Ala4081=)
c.12387C>G (p.Ala4129=)
c.12459C>G (p.Ala4153=)
 ClinVar
1g.237784138C>TCA424032171RYR2c.*3518C>T (n.*3518C>T)
c.12414C>T (p.Ala4138=)
c.12447C>T (p.Ala4149=)
c.4603C>T
c.12426C>T (p.Ala4142=)
c.2479C>T
c.12378C>T (p.Ala4126=)
n.3621C>T
c.12480C>T (p.Ala4160=)
c.12477C>T (p.Ala4159=)
c.12456C>T (p.Ala4152=)
c.12450C>T (p.Ala4150=)
c.12444C>T (p.Ala4148=)
c.12420C>T (p.Ala4140=)
c.12243C>T (p.Ala4081=)
c.12387C>T (p.Ala4129=)
c.12459C>T (p.Ala4153=)
 ClinVar dbSNP
1g.237784139A=CA2487482399RYR2c.*3519A= (n.*3519A=)
c.12415A= (p.Lys4139=)
c.12448A= (p.Lys4150=)
c.4604A=
c.12427A= (p.Lys4143=)
c.2480A=
c.12379A= (p.Lys4127=)
n.3622A=
c.12481A= (p.Lys4161=)
c.12478A= (p.Lys4160=)
c.12457A= (p.Lys4153=)
c.12451A= (p.Lys4151=)
c.12445A= (p.Lys4149=)
c.12421A= (p.Lys4141=)
c.12244A= (p.Lys4082=)
c.12388A= (p.Lys4130=)
c.12460A= (p.Lys4154=)
1g.237784139A>CCA007522RYR2c.*3519A>C (n.*3519A>C)
c.12415A>C (p.Lys4139Gln)
c.12448A>C (p.Lys4150Gln)
c.4604A>C
c.12427A>C (p.Lys4143Gln)
c.2480A>C
c.12379A>C (p.Lys4127Gln)
n.3622A>C
c.12481A>C (p.Lys4161Gln)
c.12478A>C (p.Lys4160Gln)
c.12457A>C (p.Lys4153Gln)
c.12451A>C (p.Lys4151Gln)
c.12445A>C (p.Lys4149Gln)
c.12421A>C (p.Lys4141Gln)
c.12244A>C (p.Lys4082Gln)
c.12388A>C (p.Lys4130Gln)
c.12460A>C (p.Lys4154Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784139A>GCA085183RYR2c.*3519A>G (n.*3519A>G)
c.12415A>G (p.Lys4139Glu)
c.12448A>G (p.Lys4150Glu)
c.4604A>G
c.12427A>G (p.Lys4143Glu)
c.2480A>G
c.12379A>G (p.Lys4127Glu)
n.3622A>G
c.12481A>G (p.Lys4161Glu)
c.12478A>G (p.Lys4160Glu)
c.12457A>G (p.Lys4153Glu)
c.12451A>G (p.Lys4151Glu)
c.12445A>G (p.Lys4149Glu)
c.12421A>G (p.Lys4141Glu)
c.12244A>G (p.Lys4082Glu)
c.12388A>G (p.Lys4130Glu)
c.12460A>G (p.Lys4154Glu)
 dbSNP ExAC gnomAD v2 COSMIC
1g.237784139A>TCA345413219RYR2c.*3519A>T (n.*3519A>T)
c.12415A>T (p.Lys4139Ter)
c.12448A>T (p.Lys4150Ter)
c.4604A>T
c.12427A>T (p.Lys4143Ter)
c.2480A>T
c.12379A>T (p.Lys4127Ter)
n.3622A>T
c.12481A>T (p.Lys4161Ter)
c.12478A>T (p.Lys4160Ter)
c.12457A>T (p.Lys4153Ter)
c.12451A>T (p.Lys4151Ter)
c.12445A>T (p.Lys4149Ter)
c.12421A>T (p.Lys4141Ter)
c.12244A>T (p.Lys4082Ter)
c.12388A>T (p.Lys4130Ter)
c.12460A>T (p.Lys4154Ter)
 dbSNP
1g.237784140A>CCA345413221RYR2c.*3520A>C (n.*3520A>C)
c.12416A>C (p.Lys4139Thr)
c.12449A>C (p.Lys4150Thr)
c.4605A>C
c.12428A>C (p.Lys4143Thr)
c.2481A>C
c.12380A>C (p.Lys4127Thr)
n.3623A>C
c.12482A>C (p.Lys4161Thr)
c.12479A>C (p.Lys4160Thr)
c.12458A>C (p.Lys4153Thr)
c.12452A>C (p.Lys4151Thr)
c.12446A>C (p.Lys4149Thr)
c.12422A>C (p.Lys4141Thr)
c.12245A>C (p.Lys4082Thr)
c.12389A>C (p.Lys4130Thr)
c.12461A>C (p.Lys4154Thr)
 COSMIC COSMIC
1g.237784140A>GCA345413222RYR2c.*3520A>G (n.*3520A>G)
c.12416A>G (p.Lys4139Arg)
c.12449A>G (p.Lys4150Arg)
c.4605A>G
c.12428A>G (p.Lys4143Arg)
c.2481A>G
c.12380A>G (p.Lys4127Arg)
n.3623A>G
c.12482A>G (p.Lys4161Arg)
c.12479A>G (p.Lys4160Arg)
c.12458A>G (p.Lys4153Arg)
c.12452A>G (p.Lys4151Arg)
c.12446A>G (p.Lys4149Arg)
c.12422A>G (p.Lys4141Arg)
c.12245A>G (p.Lys4082Arg)
c.12389A>G (p.Lys4130Arg)
c.12461A>G (p.Lys4154Arg)
1g.237784140A>TCA345413224RYR2c.*3520A>T (n.*3520A>T)
c.12416A>T (p.Lys4139Ile)
c.12449A>T (p.Lys4150Ile)
c.4605A>T
c.12428A>T (p.Lys4143Ile)
c.2481A>T
c.12380A>T (p.Lys4127Ile)
n.3623A>T
c.12482A>T (p.Lys4161Ile)
c.12479A>T (p.Lys4160Ile)
c.12458A>T (p.Lys4153Ile)
c.12452A>T (p.Lys4151Ile)
c.12446A>T (p.Lys4149Ile)
c.12422A>T (p.Lys4141Ile)
c.12245A>T (p.Lys4082Ile)
c.12389A>T (p.Lys4130Ile)
c.12461A>T (p.Lys4154Ile)
1g.237784142_237784143insACACCCAACCA2748280164RYR2c.*3522_*3523insACACCCAAC (n.*3522_*3523insACACCCAAC)
c.12418_12419insACACCCAAC (p.Lys4139_Arg4140insHisThrGln)
c.12451_12452insACACCCAAC (p.Lys4150_Arg4151insHisThrGln)
c.4607_4608insACACCCAAC
c.12430_12431insACACCCAAC (p.Lys4143_Arg4144insHisThrGln)
c.2483_2484insACACCCAAC
c.12382_12383insACACCCAAC (p.Lys4127_Arg4128insHisThrGln)
n.3625_3626insACACCCAAC
c.12484_12485insACACCCAAC (p.Lys4161_Arg4162insHisThrGln)
c.12481_12482insACACCCAAC (p.Lys4160_Arg4161insHisThrGln)
c.12460_12461insACACCCAAC (p.Lys4153_Arg4154insHisThrGln)
c.12454_12455insACACCCAAC (p.Lys4151_Arg4152insHisThrGln)
c.12448_12449insACACCCAAC (p.Lys4149_Arg4150insHisThrGln)
c.12424_12425insACACCCAAC (p.Lys4141_Arg4142insHisThrGln)
c.12247_12248insACACCCAAC (p.Lys4082_Arg4083insHisThrGln)
c.12391_12392insACACCCAAC (p.Lys4130_Arg4131insHisThrGln)
c.12463_12464insACACCCAAC (p.Lys4154_Arg4155insHisThrGln)
1g.237784141A>CCA345413225RYR2c.*3521A>C (n.*3521A>C)
c.12417A>C (p.Lys4139Asn)
c.12450A>C (p.Lys4150Asn)
c.4606A>C
c.12429A>C (p.Lys4143Asn)
c.2482A>C
c.12381A>C (p.Lys4127Asn)
n.3624A>C
c.12483A>C (p.Lys4161Asn)
c.12480A>C (p.Lys4160Asn)
c.12459A>C (p.Lys4153Asn)
c.12453A>C (p.Lys4151Asn)
c.12447A>C (p.Lys4149Asn)
c.12423A>C (p.Lys4141Asn)
c.12246A>C (p.Lys4082Asn)
c.12390A>C (p.Lys4130Asn)
c.12462A>C (p.Lys4154Asn)
1g.237784141A>GCA424032181RYR2c.*3521A>G (n.*3521A>G)
c.12417A>G (p.Lys4139=)
c.12450A>G (p.Lys4150=)
c.4606A>G
c.12429A>G (p.Lys4143=)
c.2482A>G
c.12381A>G (p.Lys4127=)
n.3624A>G
c.12483A>G (p.Lys4161=)
c.12480A>G (p.Lys4160=)
c.12459A>G (p.Lys4153=)
c.12453A>G (p.Lys4151=)
c.12447A>G (p.Lys4149=)
c.12423A>G (p.Lys4141=)
c.12246A>G (p.Lys4082=)
c.12390A>G (p.Lys4130=)
c.12462A>G (p.Lys4154=)
1g.237784141A>TCA345413226RYR2c.*3521A>T (n.*3521A>T)
c.12417A>T (p.Lys4139Asn)
c.12450A>T (p.Lys4150Asn)
c.4606A>T
c.12429A>T (p.Lys4143Asn)
c.2482A>T
c.12381A>T (p.Lys4127Asn)
n.3624A>T
c.12483A>T (p.Lys4161Asn)
c.12480A>T (p.Lys4160Asn)
c.12459A>T (p.Lys4153Asn)
c.12453A>T (p.Lys4151Asn)
c.12447A>T (p.Lys4149Asn)
c.12423A>T (p.Lys4141Asn)
c.12246A>T (p.Lys4082Asn)
c.12390A>T (p.Lys4130Asn)
c.12462A>T (p.Lys4154Asn)
1g.237784142C>ACA345413228RYR2c.*3522C>A (n.*3522C>A)
c.12418C>A (p.Arg4140Ser)
c.12451C>A (p.Arg4151Ser)
c.4607C>A
c.12430C>A (p.Arg4144Ser)
c.2483C>A
c.12382C>A (p.Arg4128Ser)
n.3625C>A
c.12484C>A (p.Arg4162Ser)
c.12481C>A (p.Arg4161Ser)
c.12460C>A (p.Arg4154Ser)
c.12454C>A (p.Arg4152Ser)
c.12448C>A (p.Arg4150Ser)
c.12424C>A (p.Arg4142Ser)
c.12247C>A (p.Arg4083Ser)
c.12391C>A (p.Arg4131Ser)
c.12463C>A (p.Arg4155Ser)
1g.237784142C=CA2487482400RYR2c.*3522C= (n.*3522C=)
c.12418C= (p.Arg4140=)
c.12451C= (p.Arg4151=)
c.4607C=
c.12430C= (p.Arg4144=)
c.2483C=
c.12382C= (p.Arg4128=)
n.3625C=
c.12484C= (p.Arg4162=)
c.12481C= (p.Arg4161=)
c.12460C= (p.Arg4154=)
c.12454C= (p.Arg4152=)
c.12448C= (p.Arg4150=)
c.12424C= (p.Arg4142=)
c.12247C= (p.Arg4083=)
c.12391C= (p.Arg4131=)
c.12463C= (p.Arg4155=)
1g.237784142C>GCA345413229RYR2c.*3522C>G (n.*3522C>G)
c.12418C>G (p.Arg4140Gly)
c.12451C>G (p.Arg4151Gly)
c.4607C>G
c.12430C>G (p.Arg4144Gly)
c.2483C>G
c.12382C>G (p.Arg4128Gly)
n.3625C>G
c.12484C>G (p.Arg4162Gly)
c.12481C>G (p.Arg4161Gly)
c.12460C>G (p.Arg4154Gly)
c.12454C>G (p.Arg4152Gly)
c.12448C>G (p.Arg4150Gly)
c.12424C>G (p.Arg4142Gly)
c.12247C>G (p.Arg4083Gly)
c.12391C>G (p.Arg4131Gly)
c.12463C>G (p.Arg4155Gly)
1g.237784142C>TCA345413230RYR2c.*3522C>T (n.*3522C>T)
c.12418C>T (p.Arg4140Cys)
c.12451C>T (p.Arg4151Cys)
c.4607C>T
c.12430C>T (p.Arg4144Cys)
c.2483C>T
c.12382C>T (p.Arg4128Cys)
n.3625C>T
c.12484C>T (p.Arg4162Cys)
c.12481C>T (p.Arg4161Cys)
c.12460C>T (p.Arg4154Cys)
c.12454C>T (p.Arg4152Cys)
c.12448C>T (p.Arg4150Cys)
c.12424C>T (p.Arg4142Cys)
c.12247C>T (p.Arg4083Cys)
c.12391C>T (p.Arg4131Cys)
c.12463C>T (p.Arg4155Cys)
 ClinVar dbSNP COSMIC
1g.237784143G>ACA39827631RYR2c.*3523G>A (n.*3523G>A)
c.12419G>A (p.Arg4140His)
c.12452G>A (p.Arg4151His)
c.4608G>A
c.12431G>A (p.Arg4144His)
c.2484G>A
c.12383G>A (p.Arg4128His)
n.3626G>A
c.12485G>A (p.Arg4162His)
c.12482G>A (p.Arg4161His)
c.12461G>A (p.Arg4154His)
c.12455G>A (p.Arg4152His)
c.12449G>A (p.Arg4150His)
c.12425G>A (p.Arg4142His)
c.12248G>A (p.Arg4083His)
c.12392G>A (p.Arg4131His)
c.12464G>A (p.Arg4155His)
 dbSNP gnomAD v4 COSMIC
1g.237784143G>CCA345413234RYR2c.*3523G>C (n.*3523G>C)
c.12419G>C (p.Arg4140Pro)
c.12452G>C (p.Arg4151Pro)
c.4608G>C
c.12431G>C (p.Arg4144Pro)
c.2484G>C
c.12383G>C (p.Arg4128Pro)
n.3626G>C
c.12485G>C (p.Arg4162Pro)
c.12482G>C (p.Arg4161Pro)
c.12461G>C (p.Arg4154Pro)
c.12455G>C (p.Arg4152Pro)
c.12449G>C (p.Arg4150Pro)
c.12425G>C (p.Arg4142Pro)
c.12248G>C (p.Arg4083Pro)
c.12392G>C (p.Arg4131Pro)
c.12464G>C (p.Arg4155Pro)
 gnomAD v4
1g.237784143G=CA2487482401RYR2c.*3523G= (n.*3523G=)
c.12419G= (p.Arg4140=)
c.12452G= (p.Arg4151=)
c.4608G=
c.12431G= (p.Arg4144=)
c.2484G=
c.12383G= (p.Arg4128=)
n.3626G=
c.12485G= (p.Arg4162=)
c.12482G= (p.Arg4161=)
c.12461G= (p.Arg4154=)
c.12455G= (p.Arg4152=)
c.12449G= (p.Arg4150=)
c.12425G= (p.Arg4142=)
c.12248G= (p.Arg4083=)
c.12392G= (p.Arg4131=)
c.12464G= (p.Arg4155=)
1g.237784143G>TCA345413235RYR2c.*3523G>T (n.*3523G>T)
c.12419G>T (p.Arg4140Leu)
c.12452G>T (p.Arg4151Leu)
c.4608G>T
c.12431G>T (p.Arg4144Leu)
c.2484G>T
c.12383G>T (p.Arg4128Leu)
n.3626G>T
c.12485G>T (p.Arg4162Leu)
c.12482G>T (p.Arg4161Leu)
c.12461G>T (p.Arg4154Leu)
c.12455G>T (p.Arg4152Leu)
c.12449G>T (p.Arg4150Leu)
c.12425G>T (p.Arg4142Leu)
c.12248G>T (p.Arg4083Leu)
c.12392G>T (p.Arg4131Leu)
c.12464G>T (p.Arg4155Leu)
1g.237784144C>ACA424032184RYR2c.*3524C>A (n.*3524C>A)
c.12420C>A (p.Arg4140=)
c.12453C>A (p.Arg4151=)
c.4609C>A
c.12432C>A (p.Arg4144=)
c.2485C>A
c.12384C>A (p.Arg4128=)
n.3627C>A
c.12486C>A (p.Arg4162=)
c.12483C>A (p.Arg4161=)
c.12462C>A (p.Arg4154=)
c.12456C>A (p.Arg4152=)
c.12450C>A (p.Arg4150=)
c.12426C>A (p.Arg4142=)
c.12249C>A (p.Arg4083=)
c.12393C>A (p.Arg4131=)
c.12465C>A (p.Arg4155=)
1g.237784144C>GCA424032185RYR2c.*3524C>G (n.*3524C>G)
c.12420C>G (p.Arg4140=)
c.12453C>G (p.Arg4151=)
c.4609C>G
c.12432C>G (p.Arg4144=)
c.2485C>G
c.12384C>G (p.Arg4128=)
n.3627C>G
c.12486C>G (p.Arg4162=)
c.12483C>G (p.Arg4161=)
c.12462C>G (p.Arg4154=)
c.12456C>G (p.Arg4152=)
c.12450C>G (p.Arg4150=)
c.12426C>G (p.Arg4142=)
c.12249C>G (p.Arg4083=)
c.12393C>G (p.Arg4131=)
c.12465C>G (p.Arg4155=)
1g.237784144C>TCA424032187RYR2c.*3524C>T (n.*3524C>T)
c.12420C>T (p.Arg4140=)
c.12453C>T (p.Arg4151=)
c.4609C>T
c.12432C>T (p.Arg4144=)
c.2485C>T
c.12384C>T (p.Arg4128=)
n.3627C>T
c.12486C>T (p.Arg4162=)
c.12483C>T (p.Arg4161=)
c.12462C>T (p.Arg4154=)
c.12456C>T (p.Arg4152=)
c.12450C>T (p.Arg4150=)
c.12426C>T (p.Arg4142=)
c.12249C>T (p.Arg4083=)
c.12393C>T (p.Arg4131=)
c.12465C>T (p.Arg4155=)
1g.237784145A>CCA345413237RYR2c.*3525A>C (n.*3525A>C)
c.12421A>C (p.Ile4141Leu)
c.12454A>C (p.Ile4152Leu)
c.4610A>C
c.12433A>C (p.Ile4145Leu)
c.2486A>C
c.12385A>C (p.Ile4129Leu)
n.3628A>C
c.12487A>C (p.Ile4163Leu)
c.12484A>C (p.Ile4162Leu)
c.12463A>C (p.Ile4155Leu)
c.12457A>C (p.Ile4153Leu)
c.12451A>C (p.Ile4151Leu)
c.12427A>C (p.Ile4143Leu)
c.12250A>C (p.Ile4084Leu)
c.12394A>C (p.Ile4132Leu)
c.12466A>C (p.Ile4156Leu)
1g.237784145A>GCA345413239RYR2c.*3525A>G (n.*3525A>G)
c.12421A>G (p.Ile4141Val)
c.12454A>G (p.Ile4152Val)
c.4610A>G
c.12433A>G (p.Ile4145Val)
c.2486A>G
c.12385A>G (p.Ile4129Val)
n.3628A>G
c.12487A>G (p.Ile4163Val)
c.12484A>G (p.Ile4162Val)
c.12463A>G (p.Ile4155Val)
c.12457A>G (p.Ile4153Val)
c.12451A>G (p.Ile4151Val)
c.12427A>G (p.Ile4143Val)
c.12250A>G (p.Ile4084Val)
c.12394A>G (p.Ile4132Val)
c.12466A>G (p.Ile4156Val)
1g.237784145A>TCA345413236RYR2c.*3525A>T (n.*3525A>T)
c.12421A>T (p.Ile4141Phe)
c.12454A>T (p.Ile4152Phe)
c.4610A>T
c.12433A>T (p.Ile4145Phe)
c.2486A>T
c.12385A>T (p.Ile4129Phe)
n.3628A>T
c.12487A>T (p.Ile4163Phe)
c.12484A>T (p.Ile4162Phe)
c.12463A>T (p.Ile4155Phe)
c.12457A>T (p.Ile4153Phe)
c.12451A>T (p.Ile4151Phe)
c.12427A>T (p.Ile4143Phe)
c.12250A>T (p.Ile4084Phe)
c.12394A>T (p.Ile4132Phe)
c.12466A>T (p.Ile4156Phe)
1g.237784146T>ACA345413240RYR2c.*3526T>A (n.*3526T>A)
c.12422T>A (p.Ile4141Asn)
c.12455T>A (p.Ile4152Asn)
c.4611T>A
c.12434T>A (p.Ile4145Asn)
c.2487T>A
c.12386T>A (p.Ile4129Asn)
n.3629T>A
c.12488T>A (p.Ile4163Asn)
c.12485T>A (p.Ile4162Asn)
c.12464T>A (p.Ile4155Asn)
c.12458T>A (p.Ile4153Asn)
c.12452T>A (p.Ile4151Asn)
c.12428T>A (p.Ile4143Asn)
c.12251T>A (p.Ile4084Asn)
c.12395T>A (p.Ile4132Asn)
c.12467T>A (p.Ile4156Asn)
1g.237784146T>CCA345413241RYR2c.*3526T>C (n.*3526T>C)
c.12422T>C (p.Ile4141Thr)
c.12455T>C (p.Ile4152Thr)
c.4611T>C
c.12434T>C (p.Ile4145Thr)
c.2487T>C
c.12386T>C (p.Ile4129Thr)
n.3629T>C
c.12488T>C (p.Ile4163Thr)
c.12485T>C (p.Ile4162Thr)
c.12464T>C (p.Ile4155Thr)
c.12458T>C (p.Ile4153Thr)
c.12452T>C (p.Ile4151Thr)
c.12428T>C (p.Ile4143Thr)
c.12251T>C (p.Ile4084Thr)
c.12395T>C (p.Ile4132Thr)
c.12467T>C (p.Ile4156Thr)
1g.237784146T>GCA345413243RYR2c.*3526T>G (n.*3526T>G)
c.12422T>G (p.Ile4141Ser)
c.12455T>G (p.Ile4152Ser)
c.4611T>G
c.12434T>G (p.Ile4145Ser)
c.2487T>G
c.12386T>G (p.Ile4129Ser)
n.3629T>G
c.12488T>G (p.Ile4163Ser)
c.12485T>G (p.Ile4162Ser)
c.12464T>G (p.Ile4155Ser)
c.12458T>G (p.Ile4153Ser)
c.12452T>G (p.Ile4151Ser)
c.12428T>G (p.Ile4143Ser)
c.12251T>G (p.Ile4084Ser)
c.12395T>G (p.Ile4132Ser)
c.12467T>G (p.Ile4156Ser)
1g.237784147C>ACA424032191RYR2c.*3527C>A (n.*3527C>A)
c.12423C>A (p.Ile4141=)
c.12456C>A (p.Ile4152=)
c.4612C>A
c.12435C>A (p.Ile4145=)
c.2488C>A
c.12387C>A (p.Ile4129=)
n.3630C>A
c.12489C>A (p.Ile4163=)
c.12486C>A (p.Ile4162=)
c.12465C>A (p.Ile4155=)
c.12459C>A (p.Ile4153=)
c.12453C>A (p.Ile4151=)
c.12429C>A (p.Ile4143=)
c.12252C>A (p.Ile4084=)
c.12396C>A (p.Ile4132=)
c.12468C>A (p.Ile4156=)
 dbSNP gnomAD v4 COSMIC COSMIC
1g.237784147C=CA2487482402RYR2c.*3527C= (n.*3527C=)
c.12423C= (p.Ile4141=)
c.12456C= (p.Ile4152=)
c.4612C=
c.12435C= (p.Ile4145=)
c.2488C=
c.12387C= (p.Ile4129=)
n.3630C=
c.12489C= (p.Ile4163=)
c.12486C= (p.Ile4162=)
c.12465C= (p.Ile4155=)
c.12459C= (p.Ile4153=)
c.12453C= (p.Ile4151=)
c.12429C= (p.Ile4143=)
c.12252C= (p.Ile4084=)
c.12396C= (p.Ile4132=)
c.12468C= (p.Ile4156=)
1g.237784147C>GCA345413245RYR2c.*3527C>G (n.*3527C>G)
c.12423C>G (p.Ile4141Met)
c.12456C>G (p.Ile4152Met)
c.4612C>G
c.12435C>G (p.Ile4145Met)
c.2488C>G
c.12387C>G (p.Ile4129Met)
n.3630C>G
c.12489C>G (p.Ile4163Met)
c.12486C>G (p.Ile4162Met)
c.12465C>G (p.Ile4155Met)
c.12459C>G (p.Ile4153Met)
c.12453C>G (p.Ile4151Met)
c.12429C>G (p.Ile4143Met)
c.12252C>G (p.Ile4084Met)
c.12396C>G (p.Ile4132Met)
c.12468C>G (p.Ile4156Met)
1g.237784147C>TCA39827635RYR2c.*3527C>T (n.*3527C>T)
c.12423C>T (p.Ile4141=)
c.12456C>T (p.Ile4152=)
c.4612C>T
c.12435C>T (p.Ile4145=)
c.2488C>T
c.12387C>T (p.Ile4129=)
n.3630C>T
c.12489C>T (p.Ile4163=)
c.12486C>T (p.Ile4162=)
c.12465C>T (p.Ile4155=)
c.12459C>T (p.Ile4153=)
c.12453C>T (p.Ile4151=)
c.12429C>T (p.Ile4143=)
c.12252C>T (p.Ile4084=)
c.12396C>T (p.Ile4132=)
c.12468C>T (p.Ile4156=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237784147_237784149delinsCGACA2487482403RYR2c.*3527_*3529delinsCGA (n.*3527_*3529delinsCGA)
c.12423_12425delinsCGA (p.Ile4141=)
c.12456_12458delinsCGA (p.Ile4152=)
c.4612_4614delinsCGA
c.12435_12437delinsCGA (p.Ile4145=)
c.2488_2490delinsCGA
c.12387_12389delinsCGA (p.Ile4129=)
n.3630_3632delinsCGA
c.12489_12491delinsCGA (p.Ile4163=)
c.12486_12488delinsCGA (p.Ile4162=)
c.12465_12467delinsCGA (p.Ile4155=)
c.12459_12461delinsCGA (p.Ile4153=)
c.12453_12455delinsCGA (p.Ile4151=)
c.12429_12431delinsCGA (p.Ile4143=)
c.12252_12254delinsCGA (p.Ile4084=)
c.12396_12398delinsCGA (p.Ile4132=)
c.12468_12470delinsCGA (p.Ile4156=)
1g.237784148G>ACA345413247RYR2c.*3528G>A (n.*3528G>A)
c.12424G>A (p.Glu4142Lys)
c.12457G>A (p.Glu4153Lys)
c.4613G>A
c.12436G>A (p.Glu4146Lys)
c.2489G>A
c.12388G>A (p.Glu4130Lys)
n.3631G>A
c.12490G>A (p.Glu4164Lys)
c.12487G>A (p.Glu4163Lys)
c.12466G>A (p.Glu4156Lys)
c.12460G>A (p.Glu4154Lys)
c.12454G>A (p.Glu4152Lys)
c.12430G>A (p.Glu4144Lys)
c.12253G>A (p.Glu4085Lys)
c.12397G>A (p.Glu4133Lys)
c.12469G>A (p.Glu4157Lys)
 dbSNP
1g.237784148G>CCA345413248RYR2c.*3528G>C (n.*3528G>C)
c.12424G>C (p.Glu4142Gln)
c.12457G>C (p.Glu4153Gln)
c.4613G>C
c.12436G>C (p.Glu4146Gln)
c.2489G>C
c.12388G>C (p.Glu4130Gln)
n.3631G>C
c.12490G>C (p.Glu4164Gln)
c.12487G>C (p.Glu4163Gln)
c.12466G>C (p.Glu4156Gln)
c.12460G>C (p.Glu4154Gln)
c.12454G>C (p.Glu4152Gln)
c.12430G>C (p.Glu4144Gln)
c.12253G>C (p.Glu4085Gln)
c.12397G>C (p.Glu4133Gln)
c.12469G>C (p.Glu4157Gln)
1g.237784148G=CA2487482404RYR2c.*3528G= (n.*3528G=)
c.12424G= (p.Glu4142=)
c.12457G= (p.Glu4153=)
c.4613G=
c.12436G= (p.Glu4146=)
c.2489G=
c.12388G= (p.Glu4130=)
n.3631G=
c.12490G= (p.Glu4164=)
c.12487G= (p.Glu4163=)
c.12466G= (p.Glu4156=)
c.12460G= (p.Glu4154=)
c.12454G= (p.Glu4152=)
c.12430G= (p.Glu4144=)
c.12253G= (p.Glu4085=)
c.12397G= (p.Glu4133=)
c.12469G= (p.Glu4157=)
1g.237784148G>TCA345413250RYR2c.*3528G>T (n.*3528G>T)
c.12424G>T (p.Glu4142Ter)
c.12457G>T (p.Glu4153Ter)
c.4613G>T
c.12436G>T (p.Glu4146Ter)
c.2489G>T
c.12388G>T (p.Glu4130Ter)
n.3631G>T
c.12490G>T (p.Glu4164Ter)
c.12487G>T (p.Glu4163Ter)
c.12466G>T (p.Glu4156Ter)
c.12460G>T (p.Glu4154Ter)
c.12454G>T (p.Glu4152Ter)
c.12430G>T (p.Glu4144Ter)
c.12253G>T (p.Glu4085Ter)
c.12397G>T (p.Glu4133Ter)
c.12469G>T (p.Glu4157Ter)
 COSMIC COSMIC
1g.237784151_237784152delCA1013748110RYR2c.*3531_*3532del (n.*3531_*3532del)
c.12427_12428del (p.Arg4143GlyfsTer4)
c.12460_12461del (p.Arg4154GlyfsTer4)
c.4616_4617del
c.12439_12440del (p.Arg4147GlyfsTer4)
c.2492_2493del
c.12391_12392del (p.Arg4131GlyfsTer4)
n.3634_3635del
c.12493_12494del (p.Arg4165GlyfsTer4)
c.12490_12491del (p.Arg4164GlyfsTer4)
c.12469_12470del (p.Arg4157GlyfsTer4)
c.12463_12464del (p.Arg4155GlyfsTer4)
c.12457_12458del (p.Arg4153GlyfsTer4)
c.12433_12434del (p.Arg4145GlyfsTer4)
c.12256_12257del (p.Arg4086GlyfsTer4)
c.12400_12401del (p.Arg4134GlyfsTer4)
c.12472_12473del (p.Arg4158GlyfsTer4)
 dbSNP gnomAD v3 gnomAD v4
1g.237784149A=CA2487482405RYR2c.*3529A= (n.*3529A=)
c.12425A= (p.Glu4142=)
c.12458A= (p.Glu4153=)
c.4614A=
c.12437A= (p.Glu4146=)
c.2490A=
c.12389A= (p.Glu4130=)
n.3632A=
c.12491A= (p.Glu4164=)
c.12488A= (p.Glu4163=)
c.12467A= (p.Glu4156=)
c.12461A= (p.Glu4154=)
c.12455A= (p.Glu4152=)
c.12431A= (p.Glu4144=)
c.12254A= (p.Glu4085=)
c.12398A= (p.Glu4133=)
c.12470A= (p.Glu4157=)
1g.237784149A>CCA345413252RYR2c.*3529A>C (n.*3529A>C)
c.12425A>C (p.Glu4142Ala)
c.12458A>C (p.Glu4153Ala)
c.4614A>C
c.12437A>C (p.Glu4146Ala)
c.2490A>C
c.12389A>C (p.Glu4130Ala)
n.3632A>C
c.12491A>C (p.Glu4164Ala)
c.12488A>C (p.Glu4163Ala)
c.12467A>C (p.Glu4156Ala)
c.12461A>C (p.Glu4154Ala)
c.12455A>C (p.Glu4152Ala)
c.12431A>C (p.Glu4144Ala)
c.12254A>C (p.Glu4085Ala)
c.12398A>C (p.Glu4133Ala)
c.12470A>C (p.Glu4157Ala)
1g.237784149A>GCA345413254RYR2c.*3529A>G (n.*3529A>G)
c.12425A>G (p.Glu4142Gly)
c.12458A>G (p.Glu4153Gly)
c.4614A>G
c.12437A>G (p.Glu4146Gly)
c.2490A>G
c.12389A>G (p.Glu4130Gly)
n.3632A>G
c.12491A>G (p.Glu4164Gly)
c.12488A>G (p.Glu4163Gly)
c.12467A>G (p.Glu4156Gly)
c.12461A>G (p.Glu4154Gly)
c.12455A>G (p.Glu4152Gly)
c.12431A>G (p.Glu4144Gly)
c.12254A>G (p.Glu4085Gly)
c.12398A>G (p.Glu4133Gly)
c.12470A>G (p.Glu4157Gly)
 ClinVar dbSNP
1g.237784149A>TCA345413253RYR2c.*3529A>T (n.*3529A>T)
c.12425A>T (p.Glu4142Val)
c.12458A>T (p.Glu4153Val)
c.4614A>T
c.12437A>T (p.Glu4146Val)
c.2490A>T
c.12389A>T (p.Glu4130Val)
n.3632A>T
c.12491A>T (p.Glu4164Val)
c.12488A>T (p.Glu4163Val)
c.12467A>T (p.Glu4156Val)
c.12461A>T (p.Glu4154Val)
c.12455A>T (p.Glu4152Val)
c.12431A>T (p.Glu4144Val)
c.12254A>T (p.Glu4085Val)
c.12398A>T (p.Glu4133Val)
c.12470A>T (p.Glu4157Val)
1g.237784150G>ACA424032193RYR2c.*3530G>A (n.*3530G>A)
c.12426G>A (p.Glu4142=)
c.12459G>A (p.Glu4153=)
c.4615G>A
c.12438G>A (p.Glu4146=)
c.2491G>A
c.12390G>A (p.Glu4130=)
n.3633G>A
c.12492G>A (p.Glu4164=)
c.12489G>A (p.Glu4163=)
c.12468G>A (p.Glu4156=)
c.12462G>A (p.Glu4154=)
c.12456G>A (p.Glu4152=)
c.12432G>A (p.Glu4144=)
c.12255G>A (p.Glu4085=)
c.12399G>A (p.Glu4133=)
c.12471G>A (p.Glu4157=)
1g.237784150G>CCA204285RYR2c.*3530G>C (n.*3530G>C)
c.12426G>C (p.Glu4142Asp)
c.12459G>C (p.Glu4153Asp)
c.4615G>C
c.12438G>C (p.Glu4146Asp)
c.2491G>C
c.12390G>C (p.Glu4130Asp)
n.3633G>C
c.12492G>C (p.Glu4164Asp)
c.12489G>C (p.Glu4163Asp)
c.12468G>C (p.Glu4156Asp)
c.12462G>C (p.Glu4154Asp)
c.12456G>C (p.Glu4152Asp)
c.12432G>C (p.Glu4144Asp)
c.12255G>C (p.Glu4085Asp)
c.12399G>C (p.Glu4133Asp)
c.12471G>C (p.Glu4157Asp)
 ClinVar dbSNP
1g.237784150G=CA2487482406RYR2c.*3530G= (n.*3530G=)
c.12426G= (p.Glu4142=)
c.12459G= (p.Glu4153=)
c.4615G=
c.12438G= (p.Glu4146=)
c.2491G=
c.12390G= (p.Glu4130=)
n.3633G=
c.12492G= (p.Glu4164=)
c.12489G= (p.Glu4163=)
c.12468G= (p.Glu4156=)
c.12462G= (p.Glu4154=)
c.12456G= (p.Glu4152=)
c.12432G= (p.Glu4144=)
c.12255G= (p.Glu4085=)
c.12399G= (p.Glu4133=)
c.12471G= (p.Glu4157=)
1g.237784150G>TCA345413255RYR2c.*3530G>T (n.*3530G>T)
c.12426G>T (p.Glu4142Asp)
c.12459G>T (p.Glu4153Asp)
c.4615G>T
c.12438G>T (p.Glu4146Asp)
c.2491G>T
c.12390G>T (p.Glu4130Asp)
n.3633G>T
c.12492G>T (p.Glu4164Asp)
c.12489G>T (p.Glu4163Asp)
c.12468G>T (p.Glu4156Asp)
c.12462G>T (p.Glu4154Asp)
c.12456G>T (p.Glu4152Asp)
c.12432G>T (p.Glu4144Asp)
c.12255G>T (p.Glu4085Asp)
c.12399G>T (p.Glu4133Asp)
c.12471G>T (p.Glu4157Asp)

Number of alleles fetched