Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.237784150G>ACA424032193RYR2c.*3530G>A (n.*3530G>A)
c.12426G>A (p.Glu4142=)
c.12459G>A (p.Glu4153=)
c.4615G>A
c.12438G>A (p.Glu4146=)
c.2491G>A
c.12390G>A (p.Glu4130=)
n.3633G>A
c.12492G>A (p.Glu4164=)
c.12489G>A (p.Glu4163=)
c.12468G>A (p.Glu4156=)
c.12462G>A (p.Glu4154=)
c.12456G>A (p.Glu4152=)
c.12432G>A (p.Glu4144=)
c.12255G>A (p.Glu4085=)
c.12399G>A (p.Glu4133=)
c.12471G>A (p.Glu4157=)
1g.237784150G>CCA204285RYR2c.*3530G>C (n.*3530G>C)
c.12426G>C (p.Glu4142Asp)
c.12459G>C (p.Glu4153Asp)
c.4615G>C
c.12438G>C (p.Glu4146Asp)
c.2491G>C
c.12390G>C (p.Glu4130Asp)
n.3633G>C
c.12492G>C (p.Glu4164Asp)
c.12489G>C (p.Glu4163Asp)
c.12468G>C (p.Glu4156Asp)
c.12462G>C (p.Glu4154Asp)
c.12456G>C (p.Glu4152Asp)
c.12432G>C (p.Glu4144Asp)
c.12255G>C (p.Glu4085Asp)
c.12399G>C (p.Glu4133Asp)
c.12471G>C (p.Glu4157Asp)
 ClinVar dbSNP
1g.237784150G=CA2487482406RYR2c.*3530G= (n.*3530G=)
c.12426G= (p.Glu4142=)
c.12459G= (p.Glu4153=)
c.4615G=
c.12438G= (p.Glu4146=)
c.2491G=
c.12390G= (p.Glu4130=)
n.3633G=
c.12492G= (p.Glu4164=)
c.12489G= (p.Glu4163=)
c.12468G= (p.Glu4156=)
c.12462G= (p.Glu4154=)
c.12456G= (p.Glu4152=)
c.12432G= (p.Glu4144=)
c.12255G= (p.Glu4085=)
c.12399G= (p.Glu4133=)
c.12471G= (p.Glu4157=)
1g.237784150G>TCA345413255RYR2c.*3530G>T (n.*3530G>T)
c.12426G>T (p.Glu4142Asp)
c.12459G>T (p.Glu4153Asp)
c.4615G>T
c.12438G>T (p.Glu4146Asp)
c.2491G>T
c.12390G>T (p.Glu4130Asp)
n.3633G>T
c.12492G>T (p.Glu4164Asp)
c.12489G>T (p.Glu4163Asp)
c.12468G>T (p.Glu4156Asp)
c.12462G>T (p.Glu4154Asp)
c.12456G>T (p.Glu4152Asp)
c.12432G>T (p.Glu4144Asp)
c.12255G>T (p.Glu4085Asp)
c.12399G>T (p.Glu4133Asp)
c.12471G>T (p.Glu4157Asp)
1g.237784151A>CCA424032194RYR2c.*3531A>C (n.*3531A>C)
c.12427A>C (p.Arg4143=)
c.12460A>C (p.Arg4154=)
c.4616A>C
c.12439A>C (p.Arg4147=)
c.2492A>C
c.12391A>C (p.Arg4131=)
n.3634A>C
c.12493A>C (p.Arg4165=)
c.12490A>C (p.Arg4164=)
c.12469A>C (p.Arg4157=)
c.12463A>C (p.Arg4155=)
c.12457A>C (p.Arg4153=)
c.12433A>C (p.Arg4145=)
c.12256A>C (p.Arg4086=)
c.12400A>C (p.Arg4134=)
c.12472A>C (p.Arg4158=)
1g.237784151A>GCA345413256RYR2c.*3531A>G (n.*3531A>G)
c.12427A>G (p.Arg4143Gly)
c.12460A>G (p.Arg4154Gly)
c.4616A>G
c.12439A>G (p.Arg4147Gly)
c.2492A>G
c.12391A>G (p.Arg4131Gly)
n.3634A>G
c.12493A>G (p.Arg4165Gly)
c.12490A>G (p.Arg4164Gly)
c.12469A>G (p.Arg4157Gly)
c.12463A>G (p.Arg4155Gly)
c.12457A>G (p.Arg4153Gly)
c.12433A>G (p.Arg4145Gly)
c.12256A>G (p.Arg4086Gly)
c.12400A>G (p.Arg4134Gly)
c.12472A>G (p.Arg4158Gly)
1g.237784151A>TCA345413257RYR2c.*3531A>T (n.*3531A>T)
c.12427A>T (p.Arg4143Trp)
c.12460A>T (p.Arg4154Trp)
c.4616A>T
c.12439A>T (p.Arg4147Trp)
c.2492A>T
c.12391A>T (p.Arg4131Trp)
n.3634A>T
c.12493A>T (p.Arg4165Trp)
c.12490A>T (p.Arg4164Trp)
c.12469A>T (p.Arg4157Trp)
c.12463A>T (p.Arg4155Trp)
c.12457A>T (p.Arg4153Trp)
c.12433A>T (p.Arg4145Trp)
c.12256A>T (p.Arg4086Trp)
c.12400A>T (p.Arg4134Trp)
c.12472A>T (p.Arg4158Trp)
1g.237784151dupCA2698436138RYR2c.*3531dup (n.*3531dup)
c.12427dup (p.Arg4143LysfsTer5)
c.12460dup (p.Arg4154LysfsTer5)
c.4616dup
c.12439dup (p.Arg4147LysfsTer5)
c.2492dup
c.12391dup (p.Arg4131LysfsTer5)
n.3634dup
c.12493dup (p.Arg4165LysfsTer5)
c.12490dup (p.Arg4164LysfsTer5)
c.12469dup (p.Arg4157LysfsTer5)
c.12463dup (p.Arg4155LysfsTer5)
c.12457dup (p.Arg4153LysfsTer5)
c.12433dup (p.Arg4145LysfsTer5)
c.12256dup (p.Arg4086LysfsTer5)
c.12400dup (p.Arg4134LysfsTer5)
c.12472dup (p.Arg4158LysfsTer5)
 dbSNP
1g.237784152G>ACA345413259RYR2c.*3532G>A (n.*3532G>A)
c.12428G>A (p.Arg4143Lys)
c.12461G>A (p.Arg4154Lys)
c.4617G>A
c.12440G>A (p.Arg4147Lys)
c.2493G>A
c.12392G>A (p.Arg4131Lys)
n.3635G>A
c.12494G>A (p.Arg4165Lys)
c.12491G>A (p.Arg4164Lys)
c.12470G>A (p.Arg4157Lys)
c.12464G>A (p.Arg4155Lys)
c.12458G>A (p.Arg4153Lys)
c.12434G>A (p.Arg4145Lys)
c.12257G>A (p.Arg4086Lys)
c.12401G>A (p.Arg4134Lys)
c.12473G>A (p.Arg4158Lys)
 dbSNP gnomAD v3 gnomAD v4
1g.237784152G>CCA345413262RYR2c.*3532G>C (n.*3532G>C)
c.12428G>C (p.Arg4143Thr)
c.12461G>C (p.Arg4154Thr)
c.4617G>C
c.12440G>C (p.Arg4147Thr)
c.2493G>C
c.12392G>C (p.Arg4131Thr)
n.3635G>C
c.12494G>C (p.Arg4165Thr)
c.12491G>C (p.Arg4164Thr)
c.12470G>C (p.Arg4157Thr)
c.12464G>C (p.Arg4155Thr)
c.12458G>C (p.Arg4153Thr)
c.12434G>C (p.Arg4145Thr)
c.12257G>C (p.Arg4086Thr)
c.12401G>C (p.Arg4134Thr)
c.12473G>C (p.Arg4158Thr)
 gnomAD v4
1g.237784152G=CA2487482407RYR2c.*3532G= (n.*3532G=)
c.12428G= (p.Arg4143=)
c.12461G= (p.Arg4154=)
c.4617G=
c.12440G= (p.Arg4147=)
c.2493G=
c.12392G= (p.Arg4131=)
n.3635G=
c.12494G= (p.Arg4165=)
c.12491G= (p.Arg4164=)
c.12470G= (p.Arg4157=)
c.12464G= (p.Arg4155=)
c.12458G= (p.Arg4153=)
c.12434G= (p.Arg4145=)
c.12257G= (p.Arg4086=)
c.12401G= (p.Arg4134=)
c.12473G= (p.Arg4158=)
1g.237784152G>TCA345413260RYR2c.*3532G>T (n.*3532G>T)
c.12428G>T (p.Arg4143Met)
c.12461G>T (p.Arg4154Met)
c.4617G>T
c.12440G>T (p.Arg4147Met)
c.2493G>T
c.12392G>T (p.Arg4131Met)
n.3635G>T
c.12494G>T (p.Arg4165Met)
c.12491G>T (p.Arg4164Met)
c.12470G>T (p.Arg4157Met)
c.12464G>T (p.Arg4155Met)
c.12458G>T (p.Arg4153Met)
c.12434G>T (p.Arg4145Met)
c.12257G>T (p.Arg4086Met)
c.12401G>T (p.Arg4134Met)
c.12473G>T (p.Arg4158Met)
1g.237784153G>ACA424032197RYR2c.*3533G>A (n.*3533G>A)
c.12429G>A (p.Arg4143=)
c.12462G>A (p.Arg4154=)
c.4618G>A
c.12441G>A (p.Arg4147=)
c.2494G>A
c.12393G>A (p.Arg4131=)
n.3636G>A
c.12495G>A (p.Arg4165=)
c.12492G>A (p.Arg4164=)
c.12471G>A (p.Arg4157=)
c.12465G>A (p.Arg4155=)
c.12459G>A (p.Arg4153=)
c.12435G>A (p.Arg4145=)
c.12258G>A (p.Arg4086=)
c.12402G>A (p.Arg4134=)
c.12474G>A (p.Arg4158=)
 dbSNP COSMIC COSMIC
1g.237784153G>CCA345413264RYR2c.*3533G>C (n.*3533G>C)
c.12429G>C (p.Arg4143Ser)
c.12462G>C (p.Arg4154Ser)
c.4618G>C
c.12441G>C (p.Arg4147Ser)
c.2494G>C
c.12393G>C (p.Arg4131Ser)
n.3636G>C
c.12495G>C (p.Arg4165Ser)
c.12492G>C (p.Arg4164Ser)
c.12471G>C (p.Arg4157Ser)
c.12465G>C (p.Arg4155Ser)
c.12459G>C (p.Arg4153Ser)
c.12435G>C (p.Arg4145Ser)
c.12258G>C (p.Arg4086Ser)
c.12402G>C (p.Arg4134Ser)
c.12474G>C (p.Arg4158Ser)
 COSMIC COSMIC
1g.237784153G>TCA345413266RYR2c.*3533G>T (n.*3533G>T)
c.12429G>T (p.Arg4143Ser)
c.12462G>T (p.Arg4154Ser)
c.4618G>T
c.12441G>T (p.Arg4147Ser)
c.2494G>T
c.12393G>T (p.Arg4131Ser)
n.3636G>T
c.12495G>T (p.Arg4165Ser)
c.12492G>T (p.Arg4164Ser)
c.12471G>T (p.Arg4157Ser)
c.12465G>T (p.Arg4155Ser)
c.12459G>T (p.Arg4153Ser)
c.12435G>T (p.Arg4145Ser)
c.12258G>T (p.Arg4086Ser)
c.12402G>T (p.Arg4134Ser)
c.12474G>T (p.Arg4158Ser)
1g.237784154G>ACA345413268RYR2c.*3534G>A (n.*3534G>A)
c.12430G>A (p.Val4144Ile)
c.12463G>A (p.Val4155Ile)
c.4619G>A
c.12442G>A (p.Val4148Ile)
c.2495G>A
c.12394G>A (p.Val4132Ile)
n.3637G>A
c.12496G>A (p.Val4166Ile)
c.12493G>A (p.Val4165Ile)
c.12472G>A (p.Val4158Ile)
c.12466G>A (p.Val4156Ile)
c.12460G>A (p.Val4154Ile)
c.12436G>A (p.Val4146Ile)
c.12259G>A (p.Val4087Ile)
c.12403G>A (p.Val4135Ile)
c.12475G>A (p.Val4159Ile)
1g.237784154G>CCA345413270RYR2c.*3534G>C (n.*3534G>C)
c.12430G>C (p.Val4144Leu)
c.12463G>C (p.Val4155Leu)
c.4619G>C
c.12442G>C (p.Val4148Leu)
c.2495G>C
c.12394G>C (p.Val4132Leu)
n.3637G>C
c.12496G>C (p.Val4166Leu)
c.12493G>C (p.Val4165Leu)
c.12472G>C (p.Val4158Leu)
c.12466G>C (p.Val4156Leu)
c.12460G>C (p.Val4154Leu)
c.12436G>C (p.Val4146Leu)
c.12259G>C (p.Val4087Leu)
c.12403G>C (p.Val4135Leu)
c.12475G>C (p.Val4159Leu)
1g.237784154G>TCA345413271RYR2c.*3534G>T (n.*3534G>T)
c.12430G>T (p.Val4144Phe)
c.12463G>T (p.Val4155Phe)
c.4619G>T
c.12442G>T (p.Val4148Phe)
c.2495G>T
c.12394G>T (p.Val4132Phe)
n.3637G>T
c.12496G>T (p.Val4166Phe)
c.12493G>T (p.Val4165Phe)
c.12472G>T (p.Val4158Phe)
c.12466G>T (p.Val4156Phe)
c.12460G>T (p.Val4154Phe)
c.12436G>T (p.Val4146Phe)
c.12259G>T (p.Val4087Phe)
c.12403G>T (p.Val4135Phe)
c.12475G>T (p.Val4159Phe)
1g.237784155T>ACA345413274RYR2c.*3535T>A (n.*3535T>A)
c.12431T>A (p.Val4144Asp)
c.12464T>A (p.Val4155Asp)
c.4620T>A
c.12443T>A (p.Val4148Asp)
c.2496T>A
c.12395T>A (p.Val4132Asp)
n.3638T>A
c.12497T>A (p.Val4166Asp)
c.12494T>A (p.Val4165Asp)
c.12473T>A (p.Val4158Asp)
c.12467T>A (p.Val4156Asp)
c.12461T>A (p.Val4154Asp)
c.12437T>A (p.Val4146Asp)
c.12260T>A (p.Val4087Asp)
c.12404T>A (p.Val4135Asp)
c.12476T>A (p.Val4159Asp)
1g.237784155T>CCA345413279RYR2c.*3535T>C (n.*3535T>C)
c.12431T>C (p.Val4144Ala)
c.12464T>C (p.Val4155Ala)
c.4620T>C
c.12443T>C (p.Val4148Ala)
c.2496T>C
c.12395T>C (p.Val4132Ala)
n.3638T>C
c.12497T>C (p.Val4166Ala)
c.12494T>C (p.Val4165Ala)
c.12473T>C (p.Val4158Ala)
c.12467T>C (p.Val4156Ala)
c.12461T>C (p.Val4154Ala)
c.12437T>C (p.Val4146Ala)
c.12260T>C (p.Val4087Ala)
c.12404T>C (p.Val4135Ala)
c.12476T>C (p.Val4159Ala)
1g.237784155T>GCA345413280RYR2c.*3535T>G (n.*3535T>G)
c.12431T>G (p.Val4144Gly)
c.12464T>G (p.Val4155Gly)
c.4620T>G
c.12443T>G (p.Val4148Gly)
c.2496T>G
c.12395T>G (p.Val4132Gly)
n.3638T>G
c.12497T>G (p.Val4166Gly)
c.12494T>G (p.Val4165Gly)
c.12473T>G (p.Val4158Gly)
c.12467T>G (p.Val4156Gly)
c.12461T>G (p.Val4154Gly)
c.12437T>G (p.Val4146Gly)
c.12260T>G (p.Val4087Gly)
c.12404T>G (p.Val4135Gly)
c.12476T>G (p.Val4159Gly)
1g.237784156C>ACA424032199RYR2c.*3536C>A (n.*3536C>A)
c.12432C>A (p.Val4144=)
c.12465C>A (p.Val4155=)
c.4621C>A
c.12444C>A (p.Val4148=)
c.2497C>A
c.12396C>A (p.Val4132=)
n.3639C>A
c.12498C>A (p.Val4166=)
c.12495C>A (p.Val4165=)
c.12474C>A (p.Val4158=)
c.12468C>A (p.Val4156=)
c.12462C>A (p.Val4154=)
c.12438C>A (p.Val4146=)
c.12261C>A (p.Val4087=)
c.12405C>A (p.Val4135=)
c.12477C>A (p.Val4159=)
 COSMIC COSMIC
1g.237784156C>GCA424032200RYR2c.*3536C>G (n.*3536C>G)
c.12432C>G (p.Val4144=)
c.12465C>G (p.Val4155=)
c.4621C>G
c.12444C>G (p.Val4148=)
c.2497C>G
c.12396C>G (p.Val4132=)
n.3639C>G
c.12498C>G (p.Val4166=)
c.12495C>G (p.Val4165=)
c.12474C>G (p.Val4158=)
c.12468C>G (p.Val4156=)
c.12462C>G (p.Val4154=)
c.12438C>G (p.Val4146=)
c.12261C>G (p.Val4087=)
c.12405C>G (p.Val4135=)
c.12477C>G (p.Val4159=)
1g.237784156C>TCA424032201RYR2c.*3536C>T (n.*3536C>T)
c.12432C>T (p.Val4144=)
c.12465C>T (p.Val4155=)
c.4621C>T
c.12444C>T (p.Val4148=)
c.2497C>T
c.12396C>T (p.Val4132=)
n.3639C>T
c.12498C>T (p.Val4166=)
c.12495C>T (p.Val4165=)
c.12474C>T (p.Val4158=)
c.12468C>T (p.Val4156=)
c.12462C>T (p.Val4154=)
c.12438C>T (p.Val4146=)
c.12261C>T (p.Val4087=)
c.12405C>T (p.Val4135=)
c.12477C>T (p.Val4159=)
 gnomAD v4
1g.237784157T>ACA345413281RYR2c.*3537T>A (n.*3537T>A)
c.12433T>A (p.Tyr4145Asn)
c.12466T>A (p.Tyr4156Asn)
c.4622T>A
c.12445T>A (p.Tyr4149Asn)
c.2498T>A
c.12397T>A (p.Tyr4133Asn)
n.3640T>A
c.12499T>A (p.Tyr4167Asn)
c.12496T>A (p.Tyr4166Asn)
c.12475T>A (p.Tyr4159Asn)
c.12469T>A (p.Tyr4157Asn)
c.12463T>A (p.Tyr4155Asn)
c.12439T>A (p.Tyr4147Asn)
c.12262T>A (p.Tyr4088Asn)
c.12406T>A (p.Tyr4136Asn)
c.12478T>A (p.Tyr4160Asn)
1g.237784157T>CCA345413282RYR2c.*3537T>C (n.*3537T>C)
c.12433T>C (p.Tyr4145His)
c.12466T>C (p.Tyr4156His)
c.4622T>C
c.12445T>C (p.Tyr4149His)
c.2498T>C
c.12397T>C (p.Tyr4133His)
n.3640T>C
c.12499T>C (p.Tyr4167His)
c.12496T>C (p.Tyr4166His)
c.12475T>C (p.Tyr4159His)
c.12469T>C (p.Tyr4157His)
c.12463T>C (p.Tyr4155His)
c.12439T>C (p.Tyr4147His)
c.12262T>C (p.Tyr4088His)
c.12406T>C (p.Tyr4136His)
c.12478T>C (p.Tyr4160His)
1g.237784157T>GCA345413283RYR2c.*3537T>G (n.*3537T>G)
c.12433T>G (p.Tyr4145Asp)
c.12466T>G (p.Tyr4156Asp)
c.4622T>G
c.12445T>G (p.Tyr4149Asp)
c.2498T>G
c.12397T>G (p.Tyr4133Asp)
n.3640T>G
c.12499T>G (p.Tyr4167Asp)
c.12496T>G (p.Tyr4166Asp)
c.12475T>G (p.Tyr4159Asp)
c.12469T>G (p.Tyr4157Asp)
c.12463T>G (p.Tyr4155Asp)
c.12439T>G (p.Tyr4147Asp)
c.12262T>G (p.Tyr4088Asp)
c.12406T>G (p.Tyr4136Asp)
c.12478T>G (p.Tyr4160Asp)
1g.237784158A=CA2487482408RYR2c.*3538A= (n.*3538A=)
c.12434A= (p.Tyr4145=)
c.12467A= (p.Tyr4156=)
c.4623A=
c.12446A= (p.Tyr4149=)
c.2499A=
c.12398A= (p.Tyr4133=)
n.3641A=
c.12500A= (p.Tyr4167=)
c.12497A= (p.Tyr4166=)
c.12476A= (p.Tyr4159=)
c.12470A= (p.Tyr4157=)
c.12464A= (p.Tyr4155=)
c.12440A= (p.Tyr4147=)
c.12263A= (p.Tyr4088=)
c.12407A= (p.Tyr4136=)
c.12479A= (p.Tyr4160=)
1g.237784158A>CCA345413284RYR2c.*3538A>C (n.*3538A>C)
c.12434A>C (p.Tyr4145Ser)
c.12467A>C (p.Tyr4156Ser)
c.4623A>C
c.12446A>C (p.Tyr4149Ser)
c.2499A>C
c.12398A>C (p.Tyr4133Ser)
n.3641A>C
c.12500A>C (p.Tyr4167Ser)
c.12497A>C (p.Tyr4166Ser)
c.12476A>C (p.Tyr4159Ser)
c.12470A>C (p.Tyr4157Ser)
c.12464A>C (p.Tyr4155Ser)
c.12440A>C (p.Tyr4147Ser)
c.12263A>C (p.Tyr4088Ser)
c.12407A>C (p.Tyr4136Ser)
c.12479A>C (p.Tyr4160Ser)
1g.237784158A>GCA345413286RYR2c.*3538A>G (n.*3538A>G)
c.12434A>G (p.Tyr4145Cys)
c.12467A>G (p.Tyr4156Cys)
c.4623A>G
c.12446A>G (p.Tyr4149Cys)
c.2499A>G
c.12398A>G (p.Tyr4133Cys)
n.3641A>G
c.12500A>G (p.Tyr4167Cys)
c.12497A>G (p.Tyr4166Cys)
c.12476A>G (p.Tyr4159Cys)
c.12470A>G (p.Tyr4157Cys)
c.12464A>G (p.Tyr4155Cys)
c.12440A>G (p.Tyr4147Cys)
c.12263A>G (p.Tyr4088Cys)
c.12407A>G (p.Tyr4136Cys)
c.12479A>G (p.Tyr4160Cys)
 ClinVar dbSNP
1g.237784158A>TCA345413285RYR2c.*3538A>T (n.*3538A>T)
c.12434A>T (p.Tyr4145Phe)
c.12467A>T (p.Tyr4156Phe)
c.4623A>T
c.12446A>T (p.Tyr4149Phe)
c.2499A>T
c.12398A>T (p.Tyr4133Phe)
n.3641A>T
c.12500A>T (p.Tyr4167Phe)
c.12497A>T (p.Tyr4166Phe)
c.12476A>T (p.Tyr4159Phe)
c.12470A>T (p.Tyr4157Phe)
c.12464A>T (p.Tyr4155Phe)
c.12440A>T (p.Tyr4147Phe)
c.12263A>T (p.Tyr4088Phe)
c.12407A>T (p.Tyr4136Phe)
c.12479A>T (p.Tyr4160Phe)
1g.237784159T>ACA345413287RYR2c.*3539T>A (n.*3539T>A)
c.12435T>A (p.Tyr4145Ter)
c.12468T>A (p.Tyr4156Ter)
c.4624T>A
c.12447T>A (p.Tyr4149Ter)
c.2500T>A
c.12399T>A (p.Tyr4133Ter)
n.3642T>A
c.12501T>A (p.Tyr4167Ter)
c.12498T>A (p.Tyr4166Ter)
c.12477T>A (p.Tyr4159Ter)
c.12471T>A (p.Tyr4157Ter)
c.12465T>A (p.Tyr4155Ter)
c.12441T>A (p.Tyr4147Ter)
c.12264T>A (p.Tyr4088Ter)
c.12408T>A (p.Tyr4136Ter)
c.12480T>A (p.Tyr4160Ter)
1g.237784159T>CCA424032204RYR2c.*3539T>C (n.*3539T>C)
c.12435T>C (p.Tyr4145=)
c.12468T>C (p.Tyr4156=)
c.4624T>C
c.12447T>C (p.Tyr4149=)
c.2500T>C
c.12399T>C (p.Tyr4133=)
n.3642T>C
c.12501T>C (p.Tyr4167=)
c.12498T>C (p.Tyr4166=)
c.12477T>C (p.Tyr4159=)
c.12471T>C (p.Tyr4157=)
c.12465T>C (p.Tyr4155=)
c.12441T>C (p.Tyr4147=)
c.12264T>C (p.Tyr4088=)
c.12408T>C (p.Tyr4136=)
c.12480T>C (p.Tyr4160=)
 ClinVar dbSNP gnomAD v4
1g.237784159T>GCA345413288RYR2c.*3539T>G (n.*3539T>G)
c.12435T>G (p.Tyr4145Ter)
c.12468T>G (p.Tyr4156Ter)
c.4624T>G
c.12447T>G (p.Tyr4149Ter)
c.2500T>G
c.12399T>G (p.Tyr4133Ter)
n.3642T>G
c.12501T>G (p.Tyr4167Ter)
c.12498T>G (p.Tyr4166Ter)
c.12477T>G (p.Tyr4159Ter)
c.12471T>G (p.Tyr4157Ter)
c.12465T>G (p.Tyr4155Ter)
c.12441T>G (p.Tyr4147Ter)
c.12264T>G (p.Tyr4088Ter)
c.12408T>G (p.Tyr4136Ter)
c.12480T>G (p.Tyr4160Ter)
1g.237784160T>ACA345413291RYR2c.*3540T>A (n.*3540T>A)
c.12436T>A (p.Phe4146Ile)
c.12469T>A (p.Phe4157Ile)
c.4625T>A
c.12448T>A (p.Phe4150Ile)
c.2501T>A
c.12400T>A (p.Phe4134Ile)
n.3643T>A
c.12502T>A (p.Phe4168Ile)
c.12499T>A (p.Phe4167Ile)
c.12478T>A (p.Phe4160Ile)
c.12472T>A (p.Phe4158Ile)
c.12466T>A (p.Phe4156Ile)
c.12442T>A (p.Phe4148Ile)
c.12265T>A (p.Phe4089Ile)
c.12409T>A (p.Phe4137Ile)
c.12481T>A (p.Phe4161Ile)
1g.237784160T>CCA345413293RYR2c.*3540T>C (n.*3540T>C)
c.12436T>C (p.Phe4146Leu)
c.12469T>C (p.Phe4157Leu)
c.4625T>C
c.12448T>C (p.Phe4150Leu)
c.2501T>C
c.12400T>C (p.Phe4134Leu)
n.3643T>C
c.12502T>C (p.Phe4168Leu)
c.12499T>C (p.Phe4167Leu)
c.12478T>C (p.Phe4160Leu)
c.12472T>C (p.Phe4158Leu)
c.12466T>C (p.Phe4156Leu)
c.12442T>C (p.Phe4148Leu)
c.12265T>C (p.Phe4089Leu)
c.12409T>C (p.Phe4137Leu)
c.12481T>C (p.Phe4161Leu)
 gnomAD v4
1g.237784160T>GCA345413295RYR2c.*3540T>G (n.*3540T>G)
c.12436T>G (p.Phe4146Val)
c.12469T>G (p.Phe4157Val)
c.4625T>G
c.12448T>G (p.Phe4150Val)
c.2501T>G
c.12400T>G (p.Phe4134Val)
n.3643T>G
c.12502T>G (p.Phe4168Val)
c.12499T>G (p.Phe4167Val)
c.12478T>G (p.Phe4160Val)
c.12472T>G (p.Phe4158Val)
c.12466T>G (p.Phe4156Val)
c.12442T>G (p.Phe4148Val)
c.12265T>G (p.Phe4089Val)
c.12409T>G (p.Phe4137Val)
c.12481T>G (p.Phe4161Val)
1g.237784161T>ACA345413297RYR2c.*3541T>A (n.*3541T>A)
c.12437T>A (p.Phe4146Tyr)
c.12470T>A (p.Phe4157Tyr)
c.4626T>A
c.12449T>A (p.Phe4150Tyr)
c.2502T>A
c.12401T>A (p.Phe4134Tyr)
n.3644T>A
c.12503T>A (p.Phe4168Tyr)
c.12500T>A (p.Phe4167Tyr)
c.12479T>A (p.Phe4160Tyr)
c.12473T>A (p.Phe4158Tyr)
c.12467T>A (p.Phe4156Tyr)
c.12443T>A (p.Phe4148Tyr)
c.12266T>A (p.Phe4089Tyr)
c.12410T>A (p.Phe4137Tyr)
c.12482T>A (p.Phe4161Tyr)
1g.237784161T>CCA345413298RYR2c.*3541T>C (n.*3541T>C)
c.12437T>C (p.Phe4146Ser)
c.12470T>C (p.Phe4157Ser)
c.4626T>C
c.12449T>C (p.Phe4150Ser)
c.2502T>C
c.12401T>C (p.Phe4134Ser)
n.3644T>C
c.12503T>C (p.Phe4168Ser)
c.12500T>C (p.Phe4167Ser)
c.12479T>C (p.Phe4160Ser)
c.12473T>C (p.Phe4158Ser)
c.12467T>C (p.Phe4156Ser)
c.12443T>C (p.Phe4148Ser)
c.12266T>C (p.Phe4089Ser)
c.12410T>C (p.Phe4137Ser)
c.12482T>C (p.Phe4161Ser)
1g.237784161T>GCA345413300RYR2c.*3541T>G (n.*3541T>G)
c.12437T>G (p.Phe4146Cys)
c.12470T>G (p.Phe4157Cys)
c.4626T>G
c.12449T>G (p.Phe4150Cys)
c.2502T>G
c.12401T>G (p.Phe4134Cys)
n.3644T>G
c.12503T>G (p.Phe4168Cys)
c.12500T>G (p.Phe4167Cys)
c.12479T>G (p.Phe4160Cys)
c.12473T>G (p.Phe4158Cys)
c.12467T>G (p.Phe4156Cys)
c.12443T>G (p.Phe4148Cys)
c.12266T>G (p.Phe4089Cys)
c.12410T>G (p.Phe4137Cys)
c.12482T>G (p.Phe4161Cys)
1g.237784162T>ACA345413302RYR2c.*3542T>A (n.*3542T>A)
c.12438T>A (p.Phe4146Leu)
c.12471T>A (p.Phe4157Leu)
c.4627T>A
c.12450T>A (p.Phe4150Leu)
c.2503T>A
c.12402T>A (p.Phe4134Leu)
n.3645T>A
c.12504T>A (p.Phe4168Leu)
c.12501T>A (p.Phe4167Leu)
c.12480T>A (p.Phe4160Leu)
c.12474T>A (p.Phe4158Leu)
c.12468T>A (p.Phe4156Leu)
c.12444T>A (p.Phe4148Leu)
c.12267T>A (p.Phe4089Leu)
c.12411T>A (p.Phe4137Leu)
c.12483T>A (p.Phe4161Leu)
1g.237784162T>CCA424032206RYR2c.*3542T>C (n.*3542T>C)
c.12438T>C (p.Phe4146=)
c.12471T>C (p.Phe4157=)
c.4627T>C
c.12450T>C (p.Phe4150=)
c.2503T>C
c.12402T>C (p.Phe4134=)
n.3645T>C
c.12504T>C (p.Phe4168=)
c.12501T>C (p.Phe4167=)
c.12480T>C (p.Phe4160=)
c.12474T>C (p.Phe4158=)
c.12468T>C (p.Phe4156=)
c.12444T>C (p.Phe4148=)
c.12267T>C (p.Phe4089=)
c.12411T>C (p.Phe4137=)
c.12483T>C (p.Phe4161=)
1g.237784162T>GCA345413304RYR2c.*3542T>G (n.*3542T>G)
c.12438T>G (p.Phe4146Leu)
c.12471T>G (p.Phe4157Leu)
c.4627T>G
c.12450T>G (p.Phe4150Leu)
c.2503T>G
c.12402T>G (p.Phe4134Leu)
n.3645T>G
c.12504T>G (p.Phe4168Leu)
c.12501T>G (p.Phe4167Leu)
c.12480T>G (p.Phe4160Leu)
c.12474T>G (p.Phe4158Leu)
c.12468T>G (p.Phe4156Leu)
c.12444T>G (p.Phe4148Leu)
c.12267T>G (p.Phe4089Leu)
c.12411T>G (p.Phe4137Leu)
c.12483T>G (p.Phe4161Leu)
1g.237784163G>ACA345413307RYR2c.*3543G>A (n.*3543G>A)
c.12439G>A (p.Glu4147Lys)
c.12472G>A (p.Glu4158Lys)
c.4628G>A
c.12451G>A (p.Glu4151Lys)
c.2504G>A
c.12403G>A (p.Glu4135Lys)
n.3646G>A
c.12505G>A (p.Glu4169Lys)
c.12502G>A (p.Glu4168Lys)
c.12481G>A (p.Glu4161Lys)
c.12475G>A (p.Glu4159Lys)
c.12469G>A (p.Glu4157Lys)
c.12445G>A (p.Glu4149Lys)
c.12268G>A (p.Glu4090Lys)
c.12412G>A (p.Glu4138Lys)
c.12484G>A (p.Glu4162Lys)
1g.237784163G>CCA345413308RYR2c.*3543G>C (n.*3543G>C)
c.12439G>C (p.Glu4147Gln)
c.12472G>C (p.Glu4158Gln)
c.4628G>C
c.12451G>C (p.Glu4151Gln)
c.2504G>C
c.12403G>C (p.Glu4135Gln)
n.3646G>C
c.12505G>C (p.Glu4169Gln)
c.12502G>C (p.Glu4168Gln)
c.12481G>C (p.Glu4161Gln)
c.12475G>C (p.Glu4159Gln)
c.12469G>C (p.Glu4157Gln)
c.12445G>C (p.Glu4149Gln)
c.12268G>C (p.Glu4090Gln)
c.12412G>C (p.Glu4138Gln)
c.12484G>C (p.Glu4162Gln)
1g.237784163G>TCA345413309RYR2c.*3543G>T (n.*3543G>T)
c.12439G>T (p.Glu4147Ter)
c.12472G>T (p.Glu4158Ter)
c.4628G>T
c.12451G>T (p.Glu4151Ter)
c.2504G>T
c.12403G>T (p.Glu4135Ter)
n.3646G>T
c.12505G>T (p.Glu4169Ter)
c.12502G>T (p.Glu4168Ter)
c.12481G>T (p.Glu4161Ter)
c.12475G>T (p.Glu4159Ter)
c.12469G>T (p.Glu4157Ter)
c.12445G>T (p.Glu4149Ter)
c.12268G>T (p.Glu4090Ter)
c.12412G>T (p.Glu4138Ter)
c.12484G>T (p.Glu4162Ter)
 gnomAD v4
1g.237784163_237784164delinsGACA2487482409RYR2c.*3543_*3544delinsGA (n.*3543_*3544delinsGA)
c.12439_12440delinsGA (p.Glu4147=)
c.12472_12473delinsGA (p.Glu4158=)
c.4628_4629delinsGA
c.12451_12452delinsGA (p.Glu4151=)
c.2504_2505delinsGA
c.12403_12404delinsGA (p.Glu4135=)
n.3646_3647delinsGA
c.12505_12506delinsGA (p.Glu4169=)
c.12502_12503delinsGA (p.Glu4168=)
c.12481_12482delinsGA (p.Glu4161=)
c.12475_12476delinsGA (p.Glu4159=)
c.12469_12470delinsGA (p.Glu4157=)
c.12445_12446delinsGA (p.Glu4149=)
c.12268_12269delinsGA (p.Glu4090=)
c.12412_12413delinsGA (p.Glu4138=)
c.12484_12485delinsGA (p.Glu4162=)
1g.237784164A>CCA345413313RYR2c.*3544A>C (n.*3544A>C)
c.12440A>C (p.Glu4147Ala)
c.12473A>C (p.Glu4158Ala)
c.4629A>C
c.12452A>C (p.Glu4151Ala)
c.2505A>C
c.12404A>C (p.Glu4135Ala)
n.3647A>C
c.12506A>C (p.Glu4169Ala)
c.12503A>C (p.Glu4168Ala)
c.12482A>C (p.Glu4161Ala)
c.12476A>C (p.Glu4159Ala)
c.12470A>C (p.Glu4157Ala)
c.12446A>C (p.Glu4149Ala)
c.12269A>C (p.Glu4090Ala)
c.12413A>C (p.Glu4138Ala)
c.12485A>C (p.Glu4162Ala)
1g.237784164A>GCA345413311RYR2c.*3544A>G (n.*3544A>G)
c.12440A>G (p.Glu4147Gly)
c.12473A>G (p.Glu4158Gly)
c.4629A>G
c.12452A>G (p.Glu4151Gly)
c.2505A>G
c.12404A>G (p.Glu4135Gly)
n.3647A>G
c.12506A>G (p.Glu4169Gly)
c.12503A>G (p.Glu4168Gly)
c.12482A>G (p.Glu4161Gly)
c.12476A>G (p.Glu4159Gly)
c.12470A>G (p.Glu4157Gly)
c.12446A>G (p.Glu4149Gly)
c.12269A>G (p.Glu4090Gly)
c.12413A>G (p.Glu4138Gly)
c.12485A>G (p.Glu4162Gly)
1g.237784164A>TCA345413310RYR2c.*3544A>T (n.*3544A>T)
c.12440A>T (p.Glu4147Val)
c.12473A>T (p.Glu4158Val)
c.4629A>T
c.12452A>T (p.Glu4151Val)
c.2505A>T
c.12404A>T (p.Glu4135Val)
n.3647A>T
c.12506A>T (p.Glu4169Val)
c.12503A>T (p.Glu4168Val)
c.12482A>T (p.Glu4161Val)
c.12476A>T (p.Glu4159Val)
c.12470A>T (p.Glu4157Val)
c.12446A>T (p.Glu4149Val)
c.12269A>T (p.Glu4090Val)
c.12413A>T (p.Glu4138Val)
c.12485A>T (p.Glu4162Val)
1g.237784166delCA2487482410RYR2c.*3546del (n.*3546del)
c.12442del (p.Ile4148SerfsTer?)
c.12475del (p.Ile4159SerfsTer?)
c.4631del
c.12454del (p.Ile4152SerfsTer?)
c.2507del
c.12406del (p.Ile4136SerfsTer?)
n.3649del
c.12508del (p.Ile4170SerfsTer?)
c.12505del (p.Ile4169SerfsTer?)
c.12484del (p.Ile4162SerfsTer?)
c.12478del (p.Ile4160SerfsTer?)
c.12472del (p.Ile4158SerfsTer?)
c.12448del (p.Ile4150SerfsTer?)
c.12271del (p.Ile4091SerfsTer?)
c.12415del (p.Ile4139SerfsTer?)
c.12487del (p.Ile4163SerfsTer?)
 dbSNP
1g.237784165A>CCA345413315RYR2c.*3545A>C (n.*3545A>C)
c.12441A>C (p.Glu4147Asp)
c.12474A>C (p.Glu4158Asp)
c.4630A>C
c.12453A>C (p.Glu4151Asp)
c.2506A>C
c.12405A>C (p.Glu4135Asp)
n.3648A>C
c.12507A>C (p.Glu4169Asp)
c.12504A>C (p.Glu4168Asp)
c.12483A>C (p.Glu4161Asp)
c.12477A>C (p.Glu4159Asp)
c.12471A>C (p.Glu4157Asp)
c.12447A>C (p.Glu4149Asp)
c.12270A>C (p.Glu4090Asp)
c.12414A>C (p.Glu4138Asp)
c.12486A>C (p.Glu4162Asp)
1g.237784165A>GCA424032207RYR2c.*3545A>G (n.*3545A>G)
c.12441A>G (p.Glu4147=)
c.12474A>G (p.Glu4158=)
c.4630A>G
c.12453A>G (p.Glu4151=)
c.2506A>G
c.12405A>G (p.Glu4135=)
n.3648A>G
c.12507A>G (p.Glu4169=)
c.12504A>G (p.Glu4168=)
c.12483A>G (p.Glu4161=)
c.12477A>G (p.Glu4159=)
c.12471A>G (p.Glu4157=)
c.12447A>G (p.Glu4149=)
c.12270A>G (p.Glu4090=)
c.12414A>G (p.Glu4138=)
c.12486A>G (p.Glu4162=)
1g.237784165A>TCA345413317RYR2c.*3545A>T (n.*3545A>T)
c.12441A>T (p.Glu4147Asp)
c.12474A>T (p.Glu4158Asp)
c.4630A>T
c.12453A>T (p.Glu4151Asp)
c.2506A>T
c.12405A>T (p.Glu4135Asp)
n.3648A>T
c.12507A>T (p.Glu4169Asp)
c.12504A>T (p.Glu4168Asp)
c.12483A>T (p.Glu4161Asp)
c.12477A>T (p.Glu4159Asp)
c.12471A>T (p.Glu4157Asp)
c.12447A>T (p.Glu4149Asp)
c.12270A>T (p.Glu4090Asp)
c.12414A>T (p.Glu4138Asp)
c.12486A>T (p.Glu4162Asp)
1g.237784166A>CCA345413320RYR2c.*3546A>C (n.*3546A>C)
c.12442A>C (p.Ile4148Leu)
c.12475A>C (p.Ile4159Leu)
c.4631A>C
c.12454A>C (p.Ile4152Leu)
c.2507A>C
c.12406A>C (p.Ile4136Leu)
n.3649A>C
c.12508A>C (p.Ile4170Leu)
c.12505A>C (p.Ile4169Leu)
c.12484A>C (p.Ile4162Leu)
c.12478A>C (p.Ile4160Leu)
c.12472A>C (p.Ile4158Leu)
c.12448A>C (p.Ile4150Leu)
c.12271A>C (p.Ile4091Leu)
c.12415A>C (p.Ile4139Leu)
c.12487A>C (p.Ile4163Leu)
 ClinVar dbSNP
1g.237784166A>GCA345413321RYR2c.*3546A>G (n.*3546A>G)
c.12442A>G (p.Ile4148Val)
c.12475A>G (p.Ile4159Val)
c.4631A>G
c.12454A>G (p.Ile4152Val)
c.2507A>G
c.12406A>G (p.Ile4136Val)
n.3649A>G
c.12508A>G (p.Ile4170Val)
c.12505A>G (p.Ile4169Val)
c.12484A>G (p.Ile4162Val)
c.12478A>G (p.Ile4160Val)
c.12472A>G (p.Ile4158Val)
c.12448A>G (p.Ile4150Val)
c.12271A>G (p.Ile4091Val)
c.12415A>G (p.Ile4139Val)
c.12487A>G (p.Ile4163Val)
 gnomAD v4
1g.237784166A>TCA345413322RYR2c.*3546A>T (n.*3546A>T)
c.12442A>T (p.Ile4148Phe)
c.12475A>T (p.Ile4159Phe)
c.4631A>T
c.12454A>T (p.Ile4152Phe)
c.2507A>T
c.12406A>T (p.Ile4136Phe)
n.3649A>T
c.12508A>T (p.Ile4170Phe)
c.12505A>T (p.Ile4169Phe)
c.12484A>T (p.Ile4162Phe)
c.12478A>T (p.Ile4160Phe)
c.12472A>T (p.Ile4158Phe)
c.12448A>T (p.Ile4150Phe)
c.12271A>T (p.Ile4091Phe)
c.12415A>T (p.Ile4139Phe)
c.12487A>T (p.Ile4163Phe)
1g.237784167T>ACA345413323RYR2c.*3547T>A (n.*3547T>A)
c.12443T>A (p.Ile4148Asn)
c.12476T>A (p.Ile4159Asn)
c.4632T>A
c.12455T>A (p.Ile4152Asn)
c.2508T>A
c.12407T>A (p.Ile4136Asn)
n.3650T>A
c.12509T>A (p.Ile4170Asn)
c.12506T>A (p.Ile4169Asn)
c.12485T>A (p.Ile4162Asn)
c.12479T>A (p.Ile4160Asn)
c.12473T>A (p.Ile4158Asn)
c.12449T>A (p.Ile4150Asn)
c.12272T>A (p.Ile4091Asn)
c.12416T>A (p.Ile4139Asn)
c.12488T>A (p.Ile4163Asn)
 ClinVar dbSNP
1g.237784167T>CCA345413324RYR2c.*3547T>C (n.*3547T>C)
c.12443T>C (p.Ile4148Thr)
c.12476T>C (p.Ile4159Thr)
c.4632T>C
c.12455T>C (p.Ile4152Thr)
c.2508T>C
c.12407T>C (p.Ile4136Thr)
n.3650T>C
c.12509T>C (p.Ile4170Thr)
c.12506T>C (p.Ile4169Thr)
c.12485T>C (p.Ile4162Thr)
c.12479T>C (p.Ile4160Thr)
c.12473T>C (p.Ile4158Thr)
c.12449T>C (p.Ile4150Thr)
c.12272T>C (p.Ile4091Thr)
c.12416T>C (p.Ile4139Thr)
c.12488T>C (p.Ile4163Thr)
1g.237784167T>GCA345413326RYR2c.*3547T>G (n.*3547T>G)
c.12443T>G (p.Ile4148Ser)
c.12476T>G (p.Ile4159Ser)
c.4632T>G
c.12455T>G (p.Ile4152Ser)
c.2508T>G
c.12407T>G (p.Ile4136Ser)
n.3650T>G
c.12509T>G (p.Ile4170Ser)
c.12506T>G (p.Ile4169Ser)
c.12485T>G (p.Ile4162Ser)
c.12479T>G (p.Ile4160Ser)
c.12473T>G (p.Ile4158Ser)
c.12449T>G (p.Ile4150Ser)
c.12272T>G (p.Ile4091Ser)
c.12416T>G (p.Ile4139Ser)
c.12488T>G (p.Ile4163Ser)
1g.237784167T=CA2487482411RYR2c.*3547T= (n.*3547T=)
c.12443T= (p.Ile4148=)
c.12476T= (p.Ile4159=)
c.4632T=
c.12455T= (p.Ile4152=)
c.2508T=
c.12407T= (p.Ile4136=)
n.3650T=
c.12509T= (p.Ile4170=)
c.12506T= (p.Ile4169=)
c.12485T= (p.Ile4162=)
c.12479T= (p.Ile4160=)
c.12473T= (p.Ile4158=)
c.12449T= (p.Ile4150=)
c.12272T= (p.Ile4091=)
c.12416T= (p.Ile4139=)
c.12488T= (p.Ile4163=)
1g.237784168C>ACA424032211RYR2c.*3548C>A (n.*3548C>A)
c.12444C>A (p.Ile4148=)
c.12477C>A (p.Ile4159=)
c.4633C>A
c.12456C>A (p.Ile4152=)
c.2509C>A
c.12408C>A (p.Ile4136=)
n.3651C>A
c.12510C>A (p.Ile4170=)
c.12507C>A (p.Ile4169=)
c.12486C>A (p.Ile4162=)
c.12480C>A (p.Ile4160=)
c.12474C>A (p.Ile4158=)
c.12450C>A (p.Ile4150=)
c.12273C>A (p.Ile4091=)
c.12417C>A (p.Ile4139=)
c.12489C>A (p.Ile4163=)
 COSMIC COSMIC
1g.237784168C>GCA345413329RYR2c.*3548C>G (n.*3548C>G)
c.12444C>G (p.Ile4148Met)
c.12477C>G (p.Ile4159Met)
c.4633C>G
c.12456C>G (p.Ile4152Met)
c.2509C>G
c.12408C>G (p.Ile4136Met)
n.3651C>G
c.12510C>G (p.Ile4170Met)
c.12507C>G (p.Ile4169Met)
c.12486C>G (p.Ile4162Met)
c.12480C>G (p.Ile4160Met)
c.12474C>G (p.Ile4158Met)
c.12450C>G (p.Ile4150Met)
c.12273C>G (p.Ile4091Met)
c.12417C>G (p.Ile4139Met)
c.12489C>G (p.Ile4163Met)
1g.237784168C>TCA424032212RYR2c.*3548C>T (n.*3548C>T)
c.12444C>T (p.Ile4148=)
c.12477C>T (p.Ile4159=)
c.4633C>T
c.12456C>T (p.Ile4152=)
c.2509C>T
c.12408C>T (p.Ile4136=)
n.3651C>T
c.12510C>T (p.Ile4170=)
c.12507C>T (p.Ile4169=)
c.12486C>T (p.Ile4162=)
c.12480C>T (p.Ile4160=)
c.12474C>T (p.Ile4158=)
c.12450C>T (p.Ile4150=)
c.12273C>T (p.Ile4091=)
c.12417C>T (p.Ile4139=)
c.12489C>T (p.Ile4163=)
 COSMIC COSMIC
1g.237784169A=CA2487482412RYR2c.*3549A= (n.*3549A=)
c.12445A= (p.Ser4149=)
c.12478A= (p.Ser4160=)
c.4634A=
c.12457A= (p.Ser4153=)
c.2510A=
c.12409A= (p.Ser4137=)
n.3652A=
c.12511A= (p.Ser4171=)
c.12508A= (p.Ser4170=)
c.12487A= (p.Ser4163=)
c.12481A= (p.Ser4161=)
c.12475A= (p.Ser4159=)
c.12451A= (p.Ser4151=)
c.12274A= (p.Ser4092=)
c.12418A= (p.Ser4140=)
c.12490A= (p.Ser4164=)
1g.237784169A>CCA345413330RYR2c.*3549A>C (n.*3549A>C)
c.12445A>C (p.Ser4149Arg)
c.12478A>C (p.Ser4160Arg)
c.4634A>C
c.12457A>C (p.Ser4153Arg)
c.2510A>C
c.12409A>C (p.Ser4137Arg)
n.3652A>C
c.12511A>C (p.Ser4171Arg)
c.12508A>C (p.Ser4170Arg)
c.12487A>C (p.Ser4163Arg)
c.12481A>C (p.Ser4161Arg)
c.12475A>C (p.Ser4159Arg)
c.12451A>C (p.Ser4151Arg)
c.12274A>C (p.Ser4092Arg)
c.12418A>C (p.Ser4140Arg)
c.12490A>C (p.Ser4164Arg)
 dbSNP gnomAD v4
1g.237784169A>GCA345413335RYR2c.*3549A>G (n.*3549A>G)
c.12445A>G (p.Ser4149Gly)
c.12478A>G (p.Ser4160Gly)
c.4634A>G
c.12457A>G (p.Ser4153Gly)
c.2510A>G
c.12409A>G (p.Ser4137Gly)
n.3652A>G
c.12511A>G (p.Ser4171Gly)
c.12508A>G (p.Ser4170Gly)
c.12487A>G (p.Ser4163Gly)
c.12481A>G (p.Ser4161Gly)
c.12475A>G (p.Ser4159Gly)
c.12451A>G (p.Ser4151Gly)
c.12274A>G (p.Ser4092Gly)
c.12418A>G (p.Ser4140Gly)
c.12490A>G (p.Ser4164Gly)
1g.237784169A>TCA345413337RYR2c.*3549A>T (n.*3549A>T)
c.12445A>T (p.Ser4149Cys)
c.12478A>T (p.Ser4160Cys)
c.4634A>T
c.12457A>T (p.Ser4153Cys)
c.2510A>T
c.12409A>T (p.Ser4137Cys)
n.3652A>T
c.12511A>T (p.Ser4171Cys)
c.12508A>T (p.Ser4170Cys)
c.12487A>T (p.Ser4163Cys)
c.12481A>T (p.Ser4161Cys)
c.12475A>T (p.Ser4159Cys)
c.12451A>T (p.Ser4151Cys)
c.12274A>T (p.Ser4092Cys)
c.12418A>T (p.Ser4140Cys)
c.12490A>T (p.Ser4164Cys)
1g.237784170G>ACA345413342RYR2c.*3550G>A (n.*3550G>A)
c.12446G>A (p.Ser4149Asn)
c.12479G>A (p.Ser4160Asn)
c.4635G>A
c.12458G>A (p.Ser4153Asn)
c.2511G>A
c.12410G>A (p.Ser4137Asn)
n.3653G>A
c.12512G>A (p.Ser4171Asn)
c.12509G>A (p.Ser4170Asn)
c.12488G>A (p.Ser4163Asn)
c.12482G>A (p.Ser4161Asn)
c.12476G>A (p.Ser4159Asn)
c.12452G>A (p.Ser4151Asn)
c.12275G>A (p.Ser4092Asn)
c.12419G>A (p.Ser4140Asn)
c.12491G>A (p.Ser4164Asn)
 dbSNP COSMIC COSMIC
1g.237784170G>CCA39827643RYR2c.*3550G>C (n.*3550G>C)
c.12446G>C (p.Ser4149Thr)
c.12479G>C (p.Ser4160Thr)
c.4635G>C
c.12458G>C (p.Ser4153Thr)
c.2511G>C
c.12410G>C (p.Ser4137Thr)
n.3653G>C
c.12512G>C (p.Ser4171Thr)
c.12509G>C (p.Ser4170Thr)
c.12488G>C (p.Ser4163Thr)
c.12482G>C (p.Ser4161Thr)
c.12476G>C (p.Ser4159Thr)
c.12452G>C (p.Ser4151Thr)
c.12275G>C (p.Ser4092Thr)
c.12419G>C (p.Ser4140Thr)
c.12491G>C (p.Ser4164Thr)
 ClinVar dbSNP gnomAD v4
1g.237784170G=CA2487482413RYR2c.*3550G= (n.*3550G=)
c.12446G= (p.Ser4149=)
c.12479G= (p.Ser4160=)
c.4635G=
c.12458G= (p.Ser4153=)
c.2511G=
c.12410G= (p.Ser4137=)
n.3653G=
c.12512G= (p.Ser4171=)
c.12509G= (p.Ser4170=)
c.12488G= (p.Ser4163=)
c.12482G= (p.Ser4161=)
c.12476G= (p.Ser4159=)
c.12452G= (p.Ser4151=)
c.12275G= (p.Ser4092=)
c.12419G= (p.Ser4140=)
c.12491G= (p.Ser4164=)
1g.237784170G>TCA345413339RYR2c.*3550G>T (n.*3550G>T)
c.12446G>T (p.Ser4149Ile)
c.12479G>T (p.Ser4160Ile)
c.4635G>T
c.12458G>T (p.Ser4153Ile)
c.2511G>T
c.12410G>T (p.Ser4137Ile)
n.3653G>T
c.12512G>T (p.Ser4171Ile)
c.12509G>T (p.Ser4170Ile)
c.12488G>T (p.Ser4163Ile)
c.12482G>T (p.Ser4161Ile)
c.12476G>T (p.Ser4159Ile)
c.12452G>T (p.Ser4151Ile)
c.12275G>T (p.Ser4092Ile)
c.12419G>T (p.Ser4140Ile)
c.12491G>T (p.Ser4164Ile)
 ClinVar dbSNP COSMIC
1g.237784171T>ACA345413344RYR2c.*3551T>A (n.*3551T>A)
c.12447T>A (p.Ser4149Arg)
c.12480T>A (p.Ser4160Arg)
c.4636T>A
c.12459T>A (p.Ser4153Arg)
c.2512T>A
c.12411T>A (p.Ser4137Arg)
n.3654T>A
c.12513T>A (p.Ser4171Arg)
c.12510T>A (p.Ser4170Arg)
c.12489T>A (p.Ser4163Arg)
c.12483T>A (p.Ser4161Arg)
c.12477T>A (p.Ser4159Arg)
c.12453T>A (p.Ser4151Arg)
c.12276T>A (p.Ser4092Arg)
c.12420T>A (p.Ser4140Arg)
c.12492T>A (p.Ser4164Arg)
1g.237784171T>CCA424032213RYR2c.*3551T>C (n.*3551T>C)
c.12447T>C (p.Ser4149=)
c.12480T>C (p.Ser4160=)
c.4636T>C
c.12459T>C (p.Ser4153=)
c.2512T>C
c.12411T>C (p.Ser4137=)
n.3654T>C
c.12513T>C (p.Ser4171=)
c.12510T>C (p.Ser4170=)
c.12489T>C (p.Ser4163=)
c.12483T>C (p.Ser4161=)
c.12477T>C (p.Ser4159=)
c.12453T>C (p.Ser4151=)
c.12276T>C (p.Ser4092=)
c.12420T>C (p.Ser4140=)
c.12492T>C (p.Ser4164=)
1g.237784171T>GCA345413345RYR2c.*3551T>G (n.*3551T>G)
c.12447T>G (p.Ser4149Arg)
c.12480T>G (p.Ser4160Arg)
c.4636T>G
c.12459T>G (p.Ser4153Arg)
c.2512T>G
c.12411T>G (p.Ser4137Arg)
n.3654T>G
c.12513T>G (p.Ser4171Arg)
c.12510T>G (p.Ser4170Arg)
c.12489T>G (p.Ser4163Arg)
c.12483T>G (p.Ser4161Arg)
c.12477T>G (p.Ser4159Arg)
c.12453T>G (p.Ser4151Arg)
c.12276T>G (p.Ser4092Arg)
c.12420T>G (p.Ser4140Arg)
c.12492T>G (p.Ser4164Arg)
1g.237784172G>ACA345413347RYR2c.*3552G>A (n.*3552G>A)
c.12448G>A (p.Glu4150Lys)
c.12481G>A (p.Glu4161Lys)
c.4637G>A
c.12460G>A (p.Glu4154Lys)
c.2513G>A
c.12412G>A (p.Glu4138Lys)
n.3655G>A
c.12514G>A (p.Glu4172Lys)
c.12511G>A (p.Glu4171Lys)
c.12490G>A (p.Glu4164Lys)
c.12484G>A (p.Glu4162Lys)
c.12478G>A (p.Glu4160Lys)
c.12454G>A (p.Glu4152Lys)
c.12277G>A (p.Glu4093Lys)
c.12421G>A (p.Glu4141Lys)
c.12493G>A (p.Glu4165Lys)
1g.237784172G>CCA345413350RYR2c.*3552G>C (n.*3552G>C)
c.12448G>C (p.Glu4150Gln)
c.12481G>C (p.Glu4161Gln)
c.4637G>C
c.12460G>C (p.Glu4154Gln)
c.2513G>C
c.12412G>C (p.Glu4138Gln)
n.3655G>C
c.12514G>C (p.Glu4172Gln)
c.12511G>C (p.Glu4171Gln)
c.12490G>C (p.Glu4164Gln)
c.12484G>C (p.Glu4162Gln)
c.12478G>C (p.Glu4160Gln)
c.12454G>C (p.Glu4152Gln)
c.12277G>C (p.Glu4093Gln)
c.12421G>C (p.Glu4141Gln)
c.12493G>C (p.Glu4165Gln)
1g.237784172G>TCA345413351RYR2c.*3552G>T (n.*3552G>T)
c.12448G>T (p.Glu4150Ter)
c.12481G>T (p.Glu4161Ter)
c.4637G>T
c.12460G>T (p.Glu4154Ter)
c.2513G>T
c.12412G>T (p.Glu4138Ter)
n.3655G>T
c.12514G>T (p.Glu4172Ter)
c.12511G>T (p.Glu4171Ter)
c.12490G>T (p.Glu4164Ter)
c.12484G>T (p.Glu4162Ter)
c.12478G>T (p.Glu4160Ter)
c.12454G>T (p.Glu4152Ter)
c.12277G>T (p.Glu4093Ter)
c.12421G>T (p.Glu4141Ter)
c.12493G>T (p.Glu4165Ter)
1g.237784173A>CCA345413361RYR2c.*3553A>C (n.*3553A>C)
c.12449A>C (p.Glu4150Ala)
c.12482A>C (p.Glu4161Ala)
c.4638A>C
c.12461A>C (p.Glu4154Ala)
c.2514A>C
c.12413A>C (p.Glu4138Ala)
n.3656A>C
c.12515A>C (p.Glu4172Ala)
c.12512A>C (p.Glu4171Ala)
c.12491A>C (p.Glu4164Ala)
c.12485A>C (p.Glu4162Ala)
c.12479A>C (p.Glu4160Ala)
c.12455A>C (p.Glu4152Ala)
c.12278A>C (p.Glu4093Ala)
c.12422A>C (p.Glu4141Ala)
c.12494A>C (p.Glu4165Ala)
1g.237784173A>GCA345413357RYR2c.*3553A>G (n.*3553A>G)
c.12449A>G (p.Glu4150Gly)
c.12482A>G (p.Glu4161Gly)
c.4638A>G
c.12461A>G (p.Glu4154Gly)
c.2514A>G
c.12413A>G (p.Glu4138Gly)
n.3656A>G
c.12515A>G (p.Glu4172Gly)
c.12512A>G (p.Glu4171Gly)
c.12491A>G (p.Glu4164Gly)
c.12485A>G (p.Glu4162Gly)
c.12479A>G (p.Glu4160Gly)
c.12455A>G (p.Glu4152Gly)
c.12278A>G (p.Glu4093Gly)
c.12422A>G (p.Glu4141Gly)
c.12494A>G (p.Glu4165Gly)
1g.237784173A>TCA345413355RYR2c.*3553A>T (n.*3553A>T)
c.12449A>T (p.Glu4150Val)
c.12482A>T (p.Glu4161Val)
c.4638A>T
c.12461A>T (p.Glu4154Val)
c.2514A>T
c.12413A>T (p.Glu4138Val)
n.3656A>T
c.12515A>T (p.Glu4172Val)
c.12512A>T (p.Glu4171Val)
c.12491A>T (p.Glu4164Val)
c.12485A>T (p.Glu4162Val)
c.12479A>T (p.Glu4160Val)
c.12455A>T (p.Glu4152Val)
c.12278A>T (p.Glu4093Val)
c.12422A>T (p.Glu4141Val)
c.12494A>T (p.Glu4165Val)
1g.237784174G>ACA085185RYR2c.*3554G>A (n.*3554G>A)
c.12450G>A (p.Glu4150=)
c.12483G>A (p.Glu4161=)
c.4639G>A
c.12462G>A (p.Glu4154=)
c.2515G>A
c.12414G>A (p.Glu4138=)
n.3657G>A
c.12516G>A (p.Glu4172=)
c.12513G>A (p.Glu4171=)
c.12492G>A (p.Glu4164=)
c.12486G>A (p.Glu4162=)
c.12480G>A (p.Glu4160=)
c.12456G>A (p.Glu4152=)
c.12279G>A (p.Glu4093=)
c.12423G>A (p.Glu4141=)
c.12495G>A (p.Glu4165=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237784174G>CCA345413364RYR2c.*3554G>C (n.*3554G>C)
c.12450G>C (p.Glu4150Asp)
c.12483G>C (p.Glu4161Asp)
c.4639G>C
c.12462G>C (p.Glu4154Asp)
c.2515G>C
c.12414G>C (p.Glu4138Asp)
n.3657G>C
c.12516G>C (p.Glu4172Asp)
c.12513G>C (p.Glu4171Asp)
c.12492G>C (p.Glu4164Asp)
c.12486G>C (p.Glu4162Asp)
c.12480G>C (p.Glu4160Asp)
c.12456G>C (p.Glu4152Asp)
c.12279G>C (p.Glu4093Asp)
c.12423G>C (p.Glu4141Asp)
c.12495G>C (p.Glu4165Asp)
1g.237784174G=CA2487482414RYR2c.*3554G= (n.*3554G=)
c.12450G= (p.Glu4150=)
c.12483G= (p.Glu4161=)
c.4639G=
c.12462G= (p.Glu4154=)
c.2515G=
c.12414G= (p.Glu4138=)
n.3657G=
c.12516G= (p.Glu4172=)
c.12513G= (p.Glu4171=)
c.12492G= (p.Glu4164=)
c.12486G= (p.Glu4162=)
c.12480G= (p.Glu4160=)
c.12456G= (p.Glu4152=)
c.12279G= (p.Glu4093=)
c.12423G= (p.Glu4141=)
c.12495G= (p.Glu4165=)
1g.237784174G>TCA345413365RYR2c.*3554G>T (n.*3554G>T)
c.12450G>T (p.Glu4150Asp)
c.12483G>T (p.Glu4161Asp)
c.4639G>T
c.12462G>T (p.Glu4154Asp)
c.2515G>T
c.12414G>T (p.Glu4138Asp)
n.3657G>T
c.12516G>T (p.Glu4172Asp)
c.12513G>T (p.Glu4171Asp)
c.12492G>T (p.Glu4164Asp)
c.12486G>T (p.Glu4162Asp)
c.12480G>T (p.Glu4160Asp)
c.12456G>T (p.Glu4152Asp)
c.12279G>T (p.Glu4093Asp)
c.12423G>T (p.Glu4141Asp)
c.12495G>T (p.Glu4165Asp)
1g.237784175T>ACA16610026RYR2c.*3555T>A (n.*3555T>A)
c.12451T>A (p.Ser4151Thr)
c.12484T>A (p.Ser4162Thr)
c.4640T>A
c.12463T>A (p.Ser4155Thr)
c.2516T>A
c.12415T>A (p.Ser4139Thr)
n.3658T>A
c.12517T>A (p.Ser4173Thr)
c.12514T>A (p.Ser4172Thr)
c.12493T>A (p.Ser4165Thr)
c.12487T>A (p.Ser4163Thr)
c.12481T>A (p.Ser4161Thr)
c.12457T>A (p.Ser4153Thr)
c.12280T>A (p.Ser4094Thr)
c.12424T>A (p.Ser4142Thr)
c.12496T>A (p.Ser4166Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.237784175T>CCA345413368RYR2c.*3555T>C (n.*3555T>C)
c.12451T>C (p.Ser4151Pro)
c.12484T>C (p.Ser4162Pro)
c.4640T>C
c.12463T>C (p.Ser4155Pro)
c.2516T>C
c.12415T>C (p.Ser4139Pro)
n.3658T>C
c.12517T>C (p.Ser4173Pro)
c.12514T>C (p.Ser4172Pro)
c.12493T>C (p.Ser4165Pro)
c.12487T>C (p.Ser4163Pro)
c.12481T>C (p.Ser4161Pro)
c.12457T>C (p.Ser4153Pro)
c.12280T>C (p.Ser4094Pro)
c.12424T>C (p.Ser4142Pro)
c.12496T>C (p.Ser4166Pro)
 dbSNP
1g.237784175T>GCA345413373RYR2c.*3555T>G (n.*3555T>G)
c.12451T>G (p.Ser4151Ala)
c.12484T>G (p.Ser4162Ala)
c.4640T>G
c.12463T>G (p.Ser4155Ala)
c.2516T>G
c.12415T>G (p.Ser4139Ala)
n.3658T>G
c.12517T>G (p.Ser4173Ala)
c.12514T>G (p.Ser4172Ala)
c.12493T>G (p.Ser4165Ala)
c.12487T>G (p.Ser4163Ala)
c.12481T>G (p.Ser4161Ala)
c.12457T>G (p.Ser4153Ala)
c.12280T>G (p.Ser4094Ala)
c.12424T>G (p.Ser4142Ala)
c.12496T>G (p.Ser4166Ala)
1g.237784175T=CA2487482415RYR2c.*3555T= (n.*3555T=)
c.12451T= (p.Ser4151=)
c.12484T= (p.Ser4162=)
c.4640T=
c.12463T= (p.Ser4155=)
c.2516T=
c.12415T= (p.Ser4139=)
n.3658T=
c.12517T= (p.Ser4173=)
c.12514T= (p.Ser4172=)
c.12493T= (p.Ser4165=)
c.12487T= (p.Ser4163=)
c.12481T= (p.Ser4161=)
c.12457T= (p.Ser4153=)
c.12280T= (p.Ser4094=)
c.12424T= (p.Ser4142=)
c.12496T= (p.Ser4166=)
1g.237784176C>ACA345413376RYR2c.*3556C>A (n.*3556C>A)
c.12452C>A (p.Ser4151Tyr)
c.12485C>A (p.Ser4162Tyr)
c.4641C>A
c.12464C>A (p.Ser4155Tyr)
c.2517C>A
c.12416C>A (p.Ser4139Tyr)
n.3659C>A
c.12518C>A (p.Ser4173Tyr)
c.12515C>A (p.Ser4172Tyr)
c.12494C>A (p.Ser4165Tyr)
c.12488C>A (p.Ser4163Tyr)
c.12482C>A (p.Ser4161Tyr)
c.12458C>A (p.Ser4153Tyr)
c.12281C>A (p.Ser4094Tyr)
c.12425C>A (p.Ser4142Tyr)
c.12497C>A (p.Ser4166Tyr)
 ClinVar dbSNP COSMIC COSMIC
1g.237784176C>GCA345413381RYR2c.*3556C>G (n.*3556C>G)
c.12452C>G (p.Ser4151Cys)
c.12485C>G (p.Ser4162Cys)
c.4641C>G
c.12464C>G (p.Ser4155Cys)
c.2517C>G
c.12416C>G (p.Ser4139Cys)
n.3659C>G
c.12518C>G (p.Ser4173Cys)
c.12515C>G (p.Ser4172Cys)
c.12494C>G (p.Ser4165Cys)
c.12488C>G (p.Ser4163Cys)
c.12482C>G (p.Ser4161Cys)
c.12458C>G (p.Ser4153Cys)
c.12281C>G (p.Ser4094Cys)
c.12425C>G (p.Ser4142Cys)
c.12497C>G (p.Ser4166Cys)
1g.237784176C>TCA345413378RYR2c.*3556C>T (n.*3556C>T)
c.12452C>T (p.Ser4151Phe)
c.12485C>T (p.Ser4162Phe)
c.4641C>T
c.12464C>T (p.Ser4155Phe)
c.2517C>T
c.12416C>T (p.Ser4139Phe)
n.3659C>T
c.12518C>T (p.Ser4173Phe)
c.12515C>T (p.Ser4172Phe)
c.12494C>T (p.Ser4165Phe)
c.12488C>T (p.Ser4163Phe)
c.12482C>T (p.Ser4161Phe)
c.12458C>T (p.Ser4153Phe)
c.12281C>T (p.Ser4094Phe)
c.12425C>T (p.Ser4142Phe)
c.12497C>T (p.Ser4166Phe)
1g.237784177C>ACA424032218RYR2c.*3557C>A (n.*3557C>A)
c.12453C>A (p.Ser4151=)
c.12486C>A (p.Ser4162=)
c.4642C>A
c.12465C>A (p.Ser4155=)
c.2518C>A
c.12417C>A (p.Ser4139=)
n.3660C>A
c.12519C>A (p.Ser4173=)
c.12516C>A (p.Ser4172=)
c.12495C>A (p.Ser4165=)
c.12489C>A (p.Ser4163=)
c.12483C>A (p.Ser4161=)
c.12459C>A (p.Ser4153=)
c.12282C>A (p.Ser4094=)
c.12426C>A (p.Ser4142=)
c.12498C>A (p.Ser4166=)
1g.237784177C>GCA424032219RYR2c.*3557C>G (n.*3557C>G)
c.12453C>G (p.Ser4151=)
c.12486C>G (p.Ser4162=)
c.4642C>G
c.12465C>G (p.Ser4155=)
c.2518C>G
c.12417C>G (p.Ser4139=)
n.3660C>G
c.12519C>G (p.Ser4173=)
c.12516C>G (p.Ser4172=)
c.12495C>G (p.Ser4165=)
c.12489C>G (p.Ser4163=)
c.12483C>G (p.Ser4161=)
c.12459C>G (p.Ser4153=)
c.12282C>G (p.Ser4094=)
c.12426C>G (p.Ser4142=)
c.12498C>G (p.Ser4166=)
1g.237784177C>TCA424032220RYR2c.*3557C>T (n.*3557C>T)
c.12453C>T (p.Ser4151=)
c.12486C>T (p.Ser4162=)
c.4642C>T
c.12465C>T (p.Ser4155=)
c.2518C>T
c.12417C>T (p.Ser4139=)
n.3660C>T
c.12519C>T (p.Ser4173=)
c.12516C>T (p.Ser4172=)
c.12495C>T (p.Ser4165=)
c.12489C>T (p.Ser4163=)
c.12483C>T (p.Ser4161=)
c.12459C>T (p.Ser4153=)
c.12282C>T (p.Ser4094=)
c.12426C>T (p.Ser4142=)
c.12498C>T (p.Ser4166=)
 gnomAD v4
1g.237784178A>CCA345413383RYR2c.*3558A>C (n.*3558A>C)
c.12454A>C (p.Ser4152Arg)
c.12487A>C (p.Ser4163Arg)
c.4643A>C
c.12466A>C (p.Ser4156Arg)
c.2519A>C
c.12418A>C (p.Ser4140Arg)
n.3661A>C
c.12520A>C (p.Ser4174Arg)
c.12517A>C (p.Ser4173Arg)
c.12496A>C (p.Ser4166Arg)
c.12490A>C (p.Ser4164Arg)
c.12484A>C (p.Ser4162Arg)
c.12460A>C (p.Ser4154Arg)
c.12283A>C (p.Ser4095Arg)
c.12427A>C (p.Ser4143Arg)
c.12499A>C (p.Ser4167Arg)
 COSMIC COSMIC
1g.237784178A>GCA345413388RYR2c.*3558A>G (n.*3558A>G)
c.12454A>G (p.Ser4152Gly)
c.12487A>G (p.Ser4163Gly)
c.4643A>G
c.12466A>G (p.Ser4156Gly)
c.2519A>G
c.12418A>G (p.Ser4140Gly)
n.3661A>G
c.12520A>G (p.Ser4174Gly)
c.12517A>G (p.Ser4173Gly)
c.12496A>G (p.Ser4166Gly)
c.12490A>G (p.Ser4164Gly)
c.12484A>G (p.Ser4162Gly)
c.12460A>G (p.Ser4154Gly)
c.12283A>G (p.Ser4095Gly)
c.12427A>G (p.Ser4143Gly)
c.12499A>G (p.Ser4167Gly)
1g.237784178A>TCA345413390RYR2c.*3558A>T (n.*3558A>T)
c.12454A>T (p.Ser4152Cys)
c.12487A>T (p.Ser4163Cys)
c.4643A>T
c.12466A>T (p.Ser4156Cys)
c.2519A>T
c.12418A>T (p.Ser4140Cys)
n.3661A>T
c.12520A>T (p.Ser4174Cys)
c.12517A>T (p.Ser4173Cys)
c.12496A>T (p.Ser4166Cys)
c.12490A>T (p.Ser4164Cys)
c.12484A>T (p.Ser4162Cys)
c.12460A>T (p.Ser4154Cys)
c.12283A>T (p.Ser4095Cys)
c.12427A>T (p.Ser4143Cys)
c.12499A>T (p.Ser4167Cys)
1g.237784179G>ACA345413393RYR2c.*3559G>A (n.*3559G>A)
c.12455G>A (p.Ser4152Asn)
c.12488G>A (p.Ser4163Asn)
c.4644G>A
c.12467G>A (p.Ser4156Asn)
c.2520G>A
c.12419G>A (p.Ser4140Asn)
n.3662G>A
c.12521G>A (p.Ser4174Asn)
c.12518G>A (p.Ser4173Asn)
c.12497G>A (p.Ser4166Asn)
c.12491G>A (p.Ser4164Asn)
c.12485G>A (p.Ser4162Asn)
c.12461G>A (p.Ser4154Asn)
c.12284G>A (p.Ser4095Asn)
c.12428G>A (p.Ser4143Asn)
c.12500G>A (p.Ser4167Asn)
1g.237784179G>CCA345413396RYR2c.*3559G>C (n.*3559G>C)
c.12455G>C (p.Ser4152Thr)
c.12488G>C (p.Ser4163Thr)
c.4644G>C
c.12467G>C (p.Ser4156Thr)
c.2520G>C
c.12419G>C (p.Ser4140Thr)
n.3662G>C
c.12521G>C (p.Ser4174Thr)
c.12518G>C (p.Ser4173Thr)
c.12497G>C (p.Ser4166Thr)
c.12491G>C (p.Ser4164Thr)
c.12485G>C (p.Ser4162Thr)
c.12461G>C (p.Ser4154Thr)
c.12284G>C (p.Ser4095Thr)
c.12428G>C (p.Ser4143Thr)
c.12500G>C (p.Ser4167Thr)
1g.237784179G>TCA345413397RYR2c.*3559G>T (n.*3559G>T)
c.12455G>T (p.Ser4152Ile)
c.12488G>T (p.Ser4163Ile)
c.4644G>T
c.12467G>T (p.Ser4156Ile)
c.2520G>T
c.12419G>T (p.Ser4140Ile)
n.3662G>T
c.12521G>T (p.Ser4174Ile)
c.12518G>T (p.Ser4173Ile)
c.12497G>T (p.Ser4166Ile)
c.12491G>T (p.Ser4164Ile)
c.12485G>T (p.Ser4162Ile)
c.12461G>T (p.Ser4154Ile)
c.12284G>T (p.Ser4095Ile)
c.12428G>T (p.Ser4143Ile)
c.12500G>T (p.Ser4167Ile)
1g.237784180C>ACA16622167RYR2c.*3560C>A (n.*3560C>A)
c.12456C>A (p.Ser4152Arg)
c.12489C>A (p.Ser4163Arg)
c.4645C>A
c.12468C>A (p.Ser4156Arg)
c.2521C>A
c.12420C>A (p.Ser4140Arg)
n.3663C>A
c.12522C>A (p.Ser4174Arg)
c.12519C>A (p.Ser4173Arg)
c.12498C>A (p.Ser4166Arg)
c.12492C>A (p.Ser4164Arg)
c.12486C>A (p.Ser4162Arg)
c.12462C>A (p.Ser4154Arg)
c.12285C>A (p.Ser4095Arg)
c.12429C>A (p.Ser4143Arg)
c.12501C>A (p.Ser4167Arg)
 gnomAD v4
1g.237784180C=CA2487482416RYR2c.*3560C= (n.*3560C=)
c.12456C= (p.Ser4152=)
c.12489C= (p.Ser4163=)
c.4645C=
c.12468C= (p.Ser4156=)
c.2521C=
c.12420C= (p.Ser4140=)
n.3663C=
c.12522C= (p.Ser4174=)
c.12519C= (p.Ser4173=)
c.12498C= (p.Ser4166=)
c.12492C= (p.Ser4164=)
c.12486C= (p.Ser4162=)
c.12462C= (p.Ser4154=)
c.12285C= (p.Ser4095=)
c.12429C= (p.Ser4143=)
c.12501C= (p.Ser4167=)
1g.237784180C>GCA345413401RYR2c.*3560C>G (n.*3560C>G)
c.12456C>G (p.Ser4152Arg)
c.12489C>G (p.Ser4163Arg)
c.4645C>G
c.12468C>G (p.Ser4156Arg)
c.2521C>G
c.12420C>G (p.Ser4140Arg)
n.3663C>G
c.12522C>G (p.Ser4174Arg)
c.12519C>G (p.Ser4173Arg)
c.12498C>G (p.Ser4166Arg)
c.12492C>G (p.Ser4164Arg)
c.12486C>G (p.Ser4162Arg)
c.12462C>G (p.Ser4154Arg)
c.12285C>G (p.Ser4095Arg)
c.12429C>G (p.Ser4143Arg)
c.12501C>G (p.Ser4167Arg)
1g.237784180C>TCA424032223RYR2c.*3560C>T (n.*3560C>T)
c.12456C>T (p.Ser4152=)
c.12489C>T (p.Ser4163=)
c.4645C>T
c.12468C>T (p.Ser4156=)
c.2521C>T
c.12420C>T (p.Ser4140=)
n.3663C>T
c.12522C>T (p.Ser4174=)
c.12519C>T (p.Ser4173=)
c.12498C>T (p.Ser4166=)
c.12492C>T (p.Ser4164=)
c.12486C>T (p.Ser4162=)
c.12462C>T (p.Ser4154=)
c.12285C>T (p.Ser4095=)
c.12429C>T (p.Ser4143=)
c.12501C>T (p.Ser4167=)
 ClinVar dbSNP gnomAD v4
1g.237784181C>ACA424032224RYR2c.*3561C>A (n.*3561C>A)
c.12457C>A (p.Arg4153=)
c.12490C>A (p.Arg4164=)
c.4646C>A
c.12469C>A (p.Arg4157=)
c.2522C>A
c.12421C>A (p.Arg4141=)
n.3664C>A
c.12523C>A (p.Arg4175=)
c.12520C>A (p.Arg4174=)
c.12499C>A (p.Arg4167=)
c.12493C>A (p.Arg4165=)
c.12487C>A (p.Arg4163=)
c.12463C>A (p.Arg4155=)
c.12286C>A (p.Arg4096=)
c.12430C>A (p.Arg4144=)
c.12502C>A (p.Arg4168=)
 ClinVar dbSNP gnomAD v4
1g.237784181C=CA2487482417RYR2c.*3561C= (n.*3561C=)
c.12457C= (p.Arg4153=)
c.12490C= (p.Arg4164=)
c.4646C=
c.12469C= (p.Arg4157=)
c.2522C=
c.12421C= (p.Arg4141=)
n.3664C=
c.12523C= (p.Arg4175=)
c.12520C= (p.Arg4174=)
c.12499C= (p.Arg4167=)
c.12493C= (p.Arg4165=)
c.12487C= (p.Arg4163=)
c.12463C= (p.Arg4155=)
c.12286C= (p.Arg4096=)
c.12430C= (p.Arg4144=)
c.12502C= (p.Arg4168=)
1g.237784181C>GCA345413402RYR2c.*3561C>G (n.*3561C>G)
c.12457C>G (p.Arg4153Gly)
c.12490C>G (p.Arg4164Gly)
c.4646C>G
c.12469C>G (p.Arg4157Gly)
c.2522C>G
c.12421C>G (p.Arg4141Gly)
n.3664C>G
c.12523C>G (p.Arg4175Gly)
c.12520C>G (p.Arg4174Gly)
c.12499C>G (p.Arg4167Gly)
c.12493C>G (p.Arg4165Gly)
c.12487C>G (p.Arg4163Gly)
c.12463C>G (p.Arg4155Gly)
c.12286C>G (p.Arg4096Gly)
c.12430C>G (p.Arg4144Gly)
c.12502C>G (p.Arg4168Gly)
1g.237784181C>TCA066453RYR2c.*3561C>T (n.*3561C>T)
c.12457C>T (p.Arg4153Ter)
c.12490C>T (p.Arg4164Ter)
c.4646C>T
c.12469C>T (p.Arg4157Ter)
c.2522C>T
c.12421C>T (p.Arg4141Ter)
n.3664C>T
c.12523C>T (p.Arg4175Ter)
c.12520C>T (p.Arg4174Ter)
c.12499C>T (p.Arg4167Ter)
c.12493C>T (p.Arg4165Ter)
c.12487C>T (p.Arg4163Ter)
c.12463C>T (p.Arg4155Ter)
c.12286C>T (p.Arg4096Ter)
c.12430C>T (p.Arg4144Ter)
c.12502C>T (p.Arg4168Ter)
 dbSNP gnomAD v2 gnomAD v4
1g.237784182G>ACA007532RYR2c.*3562G>A (n.*3562G>A)
c.12458G>A (p.Arg4153Gln)
c.12491G>A (p.Arg4164Gln)
c.4647G>A
c.12470G>A (p.Arg4157Gln)
c.2523G>A
c.12422G>A (p.Arg4141Gln)
n.3665G>A
c.12524G>A (p.Arg4175Gln)
c.12521G>A (p.Arg4174Gln)
c.12500G>A (p.Arg4167Gln)
c.12494G>A (p.Arg4165Gln)
c.12488G>A (p.Arg4163Gln)
c.12464G>A (p.Arg4155Gln)
c.12287G>A (p.Arg4096Gln)
c.12431G>A (p.Arg4144Gln)
c.12503G>A (p.Arg4168Gln)
 ClinVar dbSNP COSMIC COSMIC
1g.237784182G>CCA345413404RYR2c.*3562G>C (n.*3562G>C)
c.12458G>C (p.Arg4153Pro)
c.12491G>C (p.Arg4164Pro)
c.4647G>C
c.12470G>C (p.Arg4157Pro)
c.2523G>C
c.12422G>C (p.Arg4141Pro)
n.3665G>C
c.12524G>C (p.Arg4175Pro)
c.12521G>C (p.Arg4174Pro)
c.12500G>C (p.Arg4167Pro)
c.12494G>C (p.Arg4165Pro)
c.12488G>C (p.Arg4163Pro)
c.12464G>C (p.Arg4155Pro)
c.12287G>C (p.Arg4096Pro)
c.12431G>C (p.Arg4144Pro)
c.12503G>C (p.Arg4168Pro)
1g.237784182G=CA2487482418RYR2c.*3562G= (n.*3562G=)
c.12458G= (p.Arg4153=)
c.12491G= (p.Arg4164=)
c.4647G=
c.12470G= (p.Arg4157=)
c.2523G=
c.12422G= (p.Arg4141=)
n.3665G=
c.12524G= (p.Arg4175=)
c.12521G= (p.Arg4174=)
c.12500G= (p.Arg4167=)
c.12494G= (p.Arg4165=)
c.12488G= (p.Arg4163=)
c.12464G= (p.Arg4155=)
c.12287G= (p.Arg4096=)
c.12431G= (p.Arg4144=)
c.12503G= (p.Arg4168=)
1g.237784182G>TCA345413403RYR2c.*3562G>T (n.*3562G>T)
c.12458G>T (p.Arg4153Leu)
c.12491G>T (p.Arg4164Leu)
c.4647G>T
c.12470G>T (p.Arg4157Leu)
c.2523G>T
c.12422G>T (p.Arg4141Leu)
n.3665G>T
c.12524G>T (p.Arg4175Leu)
c.12521G>T (p.Arg4174Leu)
c.12500G>T (p.Arg4167Leu)
c.12494G>T (p.Arg4165Leu)
c.12488G>T (p.Arg4163Leu)
c.12464G>T (p.Arg4155Leu)
c.12287G>T (p.Arg4096Leu)
c.12431G>T (p.Arg4144Leu)
c.12503G>T (p.Arg4168Leu)
1g.237784183A=CA2487482419RYR2c.*3563A= (n.*3563A=)
c.12459A= (p.Arg4153=)
c.12492A= (p.Arg4164=)
c.4648A=
c.12471A= (p.Arg4157=)
c.2524A=
c.12423A= (p.Arg4141=)
n.3666A=
c.12525A= (p.Arg4175=)
c.12522A= (p.Arg4174=)
c.12501A= (p.Arg4167=)
c.12495A= (p.Arg4165=)
c.12489A= (p.Arg4163=)
c.12465A= (p.Arg4155=)
c.12288A= (p.Arg4096=)
c.12432A= (p.Arg4144=)
c.12504A= (p.Arg4168=)
1g.237784183A>CCA424032225RYR2c.*3563A>C (n.*3563A>C)
c.12459A>C (p.Arg4153=)
c.12492A>C (p.Arg4164=)
c.4648A>C
c.12471A>C (p.Arg4157=)
c.2524A>C
c.12423A>C (p.Arg4141=)
n.3666A>C
c.12525A>C (p.Arg4175=)
c.12522A>C (p.Arg4174=)
c.12501A>C (p.Arg4167=)
c.12495A>C (p.Arg4165=)
c.12489A>C (p.Arg4163=)
c.12465A>C (p.Arg4155=)
c.12288A>C (p.Arg4096=)
c.12432A>C (p.Arg4144=)
c.12504A>C (p.Arg4168=)
1g.237784183A>GCA085186RYR2c.*3563A>G (n.*3563A>G)
c.12459A>G (p.Arg4153=)
c.12492A>G (p.Arg4164=)
c.4648A>G
c.12471A>G (p.Arg4157=)
c.2524A>G
c.12423A>G (p.Arg4141=)
n.3666A>G
c.12525A>G (p.Arg4175=)
c.12522A>G (p.Arg4174=)
c.12501A>G (p.Arg4167=)
c.12495A>G (p.Arg4165=)
c.12489A>G (p.Arg4163=)
c.12465A>G (p.Arg4155=)
c.12288A>G (p.Arg4096=)
c.12432A>G (p.Arg4144=)
c.12504A>G (p.Arg4168=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784183A>TCA424032229RYR2c.*3563A>T (n.*3563A>T)
c.12459A>T (p.Arg4153=)
c.12492A>T (p.Arg4164=)
c.4648A>T
c.12471A>T (p.Arg4157=)
c.2524A>T
c.12423A>T (p.Arg4141=)
n.3666A>T
c.12525A>T (p.Arg4175=)
c.12522A>T (p.Arg4174=)
c.12501A>T (p.Arg4167=)
c.12495A>T (p.Arg4165=)
c.12489A>T (p.Arg4163=)
c.12465A>T (p.Arg4155=)
c.12288A>T (p.Arg4096=)
c.12432A>T (p.Arg4144=)
c.12504A>T (p.Arg4168=)
1g.237784184A=CA2487482420RYR2c.*3564A= (n.*3564A=)
c.12460A= (p.Thr4154=)
c.12493A= (p.Thr4165=)
c.4649A=
c.12472A= (p.Thr4158=)
c.2525A=
c.12424A= (p.Thr4142=)
n.3667A=
c.12526A= (p.Thr4176=)
c.12523A= (p.Thr4175=)
c.12502A= (p.Thr4168=)
c.12496A= (p.Thr4166=)
c.12490A= (p.Thr4164=)
c.12466A= (p.Thr4156=)
c.12289A= (p.Thr4097=)
c.12433A= (p.Thr4145=)
c.12505A= (p.Thr4169=)
1g.237784184A>CCA345413410RYR2c.*3564A>C (n.*3564A>C)
c.12460A>C (p.Thr4154Pro)
c.12493A>C (p.Thr4165Pro)
c.4649A>C
c.12472A>C (p.Thr4158Pro)
c.2525A>C
c.12424A>C (p.Thr4142Pro)
n.3667A>C
c.12526A>C (p.Thr4176Pro)
c.12523A>C (p.Thr4175Pro)
c.12502A>C (p.Thr4168Pro)
c.12496A>C (p.Thr4166Pro)
c.12490A>C (p.Thr4164Pro)
c.12466A>C (p.Thr4156Pro)
c.12289A>C (p.Thr4097Pro)
c.12433A>C (p.Thr4145Pro)
c.12505A>C (p.Thr4169Pro)
 dbSNP
1g.237784184A>GCA345413409RYR2c.*3564A>G (n.*3564A>G)
c.12460A>G (p.Thr4154Ala)
c.12493A>G (p.Thr4165Ala)
c.4649A>G
c.12472A>G (p.Thr4158Ala)
c.2525A>G
c.12424A>G (p.Thr4142Ala)
n.3667A>G
c.12526A>G (p.Thr4176Ala)
c.12523A>G (p.Thr4175Ala)
c.12502A>G (p.Thr4168Ala)
c.12496A>G (p.Thr4166Ala)
c.12490A>G (p.Thr4164Ala)
c.12466A>G (p.Thr4156Ala)
c.12289A>G (p.Thr4097Ala)
c.12433A>G (p.Thr4145Ala)
c.12505A>G (p.Thr4169Ala)
 dbSNP gnomAD v4
1g.237784184A>TCA345413411RYR2c.*3564A>T (n.*3564A>T)
c.12460A>T (p.Thr4154Ser)
c.12493A>T (p.Thr4165Ser)
c.4649A>T
c.12472A>T (p.Thr4158Ser)
c.2525A>T
c.12424A>T (p.Thr4142Ser)
n.3667A>T
c.12526A>T (p.Thr4176Ser)
c.12523A>T (p.Thr4175Ser)
c.12502A>T (p.Thr4168Ser)
c.12496A>T (p.Thr4166Ser)
c.12490A>T (p.Thr4164Ser)
c.12466A>T (p.Thr4156Ser)
c.12289A>T (p.Thr4097Ser)
c.12433A>T (p.Thr4145Ser)
c.12505A>T (p.Thr4169Ser)
 dbSNP
1g.237784185C>ACA345413412RYR2c.*3565C>A (n.*3565C>A)
c.12461C>A (p.Thr4154Asn)
c.12494C>A (p.Thr4165Asn)
c.4650C>A
c.12473C>A (p.Thr4158Asn)
c.2526C>A
c.12425C>A (p.Thr4142Asn)
n.3668C>A
c.12527C>A (p.Thr4176Asn)
c.12524C>A (p.Thr4175Asn)
c.12503C>A (p.Thr4168Asn)
c.12497C>A (p.Thr4166Asn)
c.12491C>A (p.Thr4164Asn)
c.12467C>A (p.Thr4156Asn)
c.12290C>A (p.Thr4097Asn)
c.12434C>A (p.Thr4145Asn)
c.12506C>A (p.Thr4169Asn)
1g.237784185C>GCA345413414RYR2c.*3565C>G (n.*3565C>G)
c.12461C>G (p.Thr4154Ser)
c.12494C>G (p.Thr4165Ser)
c.4650C>G
c.12473C>G (p.Thr4158Ser)
c.2526C>G
c.12425C>G (p.Thr4142Ser)
n.3668C>G
c.12527C>G (p.Thr4176Ser)
c.12524C>G (p.Thr4175Ser)
c.12503C>G (p.Thr4168Ser)
c.12497C>G (p.Thr4166Ser)
c.12491C>G (p.Thr4164Ser)
c.12467C>G (p.Thr4156Ser)
c.12290C>G (p.Thr4097Ser)
c.12434C>G (p.Thr4145Ser)
c.12506C>G (p.Thr4169Ser)
1g.237784185C>TCA345413413RYR2c.*3565C>T (n.*3565C>T)
c.12461C>T (p.Thr4154Ile)
c.12494C>T (p.Thr4165Ile)
c.4650C>T
c.12473C>T (p.Thr4158Ile)
c.2526C>T
c.12425C>T (p.Thr4142Ile)
n.3668C>T
c.12527C>T (p.Thr4176Ile)
c.12524C>T (p.Thr4175Ile)
c.12503C>T (p.Thr4168Ile)
c.12497C>T (p.Thr4166Ile)
c.12491C>T (p.Thr4164Ile)
c.12467C>T (p.Thr4156Ile)
c.12290C>T (p.Thr4097Ile)
c.12434C>T (p.Thr4145Ile)
c.12506C>T (p.Thr4169Ile)
1g.237784186C>ACA424032233RYR2c.*3566C>A (n.*3566C>A)
c.12462C>A (p.Thr4154=)
c.12495C>A (p.Thr4165=)
c.4651C>A
c.12474C>A (p.Thr4158=)
c.2527C>A
c.12426C>A (p.Thr4142=)
n.3669C>A
c.12528C>A (p.Thr4176=)
c.12525C>A (p.Thr4175=)
c.12504C>A (p.Thr4168=)
c.12498C>A (p.Thr4166=)
c.12492C>A (p.Thr4164=)
c.12468C>A (p.Thr4156=)
c.12291C>A (p.Thr4097=)
c.12435C>A (p.Thr4145=)
c.12507C>A (p.Thr4169=)
1g.237784186C=CA2487482421RYR2c.*3566C= (n.*3566C=)
c.12462C= (p.Thr4154=)
c.12495C= (p.Thr4165=)
c.4651C=
c.12474C= (p.Thr4158=)
c.2527C=
c.12426C= (p.Thr4142=)
n.3669C=
c.12528C= (p.Thr4176=)
c.12525C= (p.Thr4175=)
c.12504C= (p.Thr4168=)
c.12498C= (p.Thr4166=)
c.12492C= (p.Thr4164=)
c.12468C= (p.Thr4156=)
c.12291C= (p.Thr4097=)
c.12435C= (p.Thr4145=)
c.12507C= (p.Thr4169=)
1g.237784186C>GCA085187RYR2c.*3566C>G (n.*3566C>G)
c.12462C>G (p.Thr4154=)
c.12495C>G (p.Thr4165=)
c.4651C>G
c.12474C>G (p.Thr4158=)
c.2527C>G
c.12426C>G (p.Thr4142=)
n.3669C>G
c.12528C>G (p.Thr4176=)
c.12525C>G (p.Thr4175=)
c.12504C>G (p.Thr4168=)
c.12498C>G (p.Thr4166=)
c.12492C>G (p.Thr4164=)
c.12468C>G (p.Thr4156=)
c.12291C>G (p.Thr4097=)
c.12435C>G (p.Thr4145=)
c.12507C>G (p.Thr4169=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237784186C>TCA424032231RYR2c.*3566C>T (n.*3566C>T)
c.12462C>T (p.Thr4154=)
c.12495C>T (p.Thr4165=)
c.4651C>T
c.12474C>T (p.Thr4158=)
c.2527C>T
c.12426C>T (p.Thr4142=)
n.3669C>T
c.12528C>T (p.Thr4176=)
c.12525C>T (p.Thr4175=)
c.12504C>T (p.Thr4168=)
c.12498C>T (p.Thr4166=)
c.12492C>T (p.Thr4164=)
c.12468C>T (p.Thr4156=)
c.12291C>T (p.Thr4097=)
c.12435C>T (p.Thr4145=)
c.12507C>T (p.Thr4169=)
 gnomAD v4
1g.237784187C>ACA345413416RYR2c.*3567C>A (n.*3567C>A)
c.12463C>A (p.Gln4155Lys)
c.12496C>A (p.Gln4166Lys)
c.4652C>A
c.12475C>A (p.Gln4159Lys)
c.2528C>A
c.12427C>A (p.Gln4143Lys)
n.3670C>A
c.12529C>A (p.Gln4177Lys)
c.12526C>A (p.Gln4176Lys)
c.12505C>A (p.Gln4169Lys)
c.12499C>A (p.Gln4167Lys)
c.12493C>A (p.Gln4165Lys)
c.12469C>A (p.Gln4157Lys)
c.12292C>A (p.Gln4098Lys)
c.12436C>A (p.Gln4146Lys)
c.12508C>A (p.Gln4170Lys)
 ClinVar
1g.237784187C>GCA345413415RYR2c.*3567C>G (n.*3567C>G)
c.12463C>G (p.Gln4155Glu)
c.12496C>G (p.Gln4166Glu)
c.4652C>G
c.12475C>G (p.Gln4159Glu)
c.2528C>G
c.12427C>G (p.Gln4143Glu)
n.3670C>G
c.12529C>G (p.Gln4177Glu)
c.12526C>G (p.Gln4176Glu)
c.12505C>G (p.Gln4169Glu)
c.12499C>G (p.Gln4167Glu)
c.12493C>G (p.Gln4165Glu)
c.12469C>G (p.Gln4157Glu)
c.12292C>G (p.Gln4098Glu)
c.12436C>G (p.Gln4146Glu)
c.12508C>G (p.Gln4170Glu)
1g.237784187C>TCA345413417RYR2c.*3567C>T (n.*3567C>T)
c.12463C>T (p.Gln4155Ter)
c.12496C>T (p.Gln4166Ter)
c.4652C>T
c.12475C>T (p.Gln4159Ter)
c.2528C>T
c.12427C>T (p.Gln4143Ter)
n.3670C>T
c.12529C>T (p.Gln4177Ter)
c.12526C>T (p.Gln4176Ter)
c.12505C>T (p.Gln4169Ter)
c.12499C>T (p.Gln4167Ter)
c.12493C>T (p.Gln4165Ter)
c.12469C>T (p.Gln4157Ter)
c.12292C>T (p.Gln4098Ter)
c.12436C>T (p.Gln4146Ter)
c.12508C>T (p.Gln4170Ter)
1g.237784188A=CA2487482422RYR2c.*3568A= (n.*3568A=)
c.12464A= (p.Gln4155=)
c.12497A= (p.Gln4166=)
c.4653A=
c.12476A= (p.Gln4159=)
c.2529A=
c.12428A= (p.Gln4143=)
n.3671A=
c.12530A= (p.Gln4177=)
c.12527A= (p.Gln4176=)
c.12506A= (p.Gln4169=)
c.12500A= (p.Gln4167=)
c.12494A= (p.Gln4165=)
c.12470A= (p.Gln4157=)
c.12293A= (p.Gln4098=)
c.12437A= (p.Gln4146=)
c.12509A= (p.Gln4170=)
1g.237784188A>CCA345413418RYR2c.*3568A>C (n.*3568A>C)
c.12464A>C (p.Gln4155Pro)
c.12497A>C (p.Gln4166Pro)
c.4653A>C
c.12476A>C (p.Gln4159Pro)
c.2529A>C
c.12428A>C (p.Gln4143Pro)
n.3671A>C
c.12530A>C (p.Gln4177Pro)
c.12527A>C (p.Gln4176Pro)
c.12506A>C (p.Gln4169Pro)
c.12500A>C (p.Gln4167Pro)
c.12494A>C (p.Gln4165Pro)
c.12470A>C (p.Gln4157Pro)
c.12293A>C (p.Gln4098Pro)
c.12437A>C (p.Gln4146Pro)
c.12509A>C (p.Gln4170Pro)
 dbSNP
1g.237784188A>GCA345413420RYR2c.*3568A>G (n.*3568A>G)
c.12464A>G (p.Gln4155Arg)
c.12497A>G (p.Gln4166Arg)
c.4653A>G
c.12476A>G (p.Gln4159Arg)
c.2529A>G
c.12428A>G (p.Gln4143Arg)
n.3671A>G
c.12530A>G (p.Gln4177Arg)
c.12527A>G (p.Gln4176Arg)
c.12506A>G (p.Gln4169Arg)
c.12500A>G (p.Gln4167Arg)
c.12494A>G (p.Gln4165Arg)
c.12470A>G (p.Gln4157Arg)
c.12293A>G (p.Gln4098Arg)
c.12437A>G (p.Gln4146Arg)
c.12509A>G (p.Gln4170Arg)
1g.237784188A>TCA345413419RYR2c.*3568A>T (n.*3568A>T)
c.12464A>T (p.Gln4155Leu)
c.12497A>T (p.Gln4166Leu)
c.4653A>T
c.12476A>T (p.Gln4159Leu)
c.2529A>T
c.12428A>T (p.Gln4143Leu)
n.3671A>T
c.12530A>T (p.Gln4177Leu)
c.12527A>T (p.Gln4176Leu)
c.12506A>T (p.Gln4169Leu)
c.12500A>T (p.Gln4167Leu)
c.12494A>T (p.Gln4165Leu)
c.12470A>T (p.Gln4157Leu)
c.12293A>T (p.Gln4098Leu)
c.12437A>T (p.Gln4146Leu)
c.12509A>T (p.Gln4170Leu)
1g.237784189G>ACA424032234RYR2c.*3569G>A (n.*3569G>A)
c.12465G>A (p.Gln4155=)
c.12498G>A (p.Gln4166=)
c.4654G>A
c.12477G>A (p.Gln4159=)
c.2530G>A
c.12429G>A (p.Gln4143=)
n.3672G>A
c.12531G>A (p.Gln4177=)
c.12528G>A (p.Gln4176=)
c.12507G>A (p.Gln4169=)
c.12501G>A (p.Gln4167=)
c.12495G>A (p.Gln4165=)
c.12471G>A (p.Gln4157=)
c.12294G>A (p.Gln4098=)
c.12438G>A (p.Gln4146=)
c.12510G>A (p.Gln4170=)
1g.237784189G>CCA345413421RYR2c.*3569G>C (n.*3569G>C)
c.12465G>C (p.Gln4155His)
c.12498G>C (p.Gln4166His)
c.4654G>C
c.12477G>C (p.Gln4159His)
c.2530G>C
c.12429G>C (p.Gln4143His)
n.3672G>C
c.12531G>C (p.Gln4177His)
c.12528G>C (p.Gln4176His)
c.12507G>C (p.Gln4169His)
c.12501G>C (p.Gln4167His)
c.12495G>C (p.Gln4165His)
c.12471G>C (p.Gln4157His)
c.12294G>C (p.Gln4098His)
c.12438G>C (p.Gln4146His)
c.12510G>C (p.Gln4170His)
1g.237784189G=CA2487482423RYR2c.*3569G= (n.*3569G=)
c.12465G= (p.Gln4155=)
c.12498G= (p.Gln4166=)
c.4654G=
c.12477G= (p.Gln4159=)
c.2530G=
c.12429G= (p.Gln4143=)
n.3672G=
c.12531G= (p.Gln4177=)
c.12528G= (p.Gln4176=)
c.12507G= (p.Gln4169=)
c.12501G= (p.Gln4167=)
c.12495G= (p.Gln4165=)
c.12471G= (p.Gln4157=)
c.12294G= (p.Gln4098=)
c.12438G= (p.Gln4146=)
c.12510G= (p.Gln4170=)
1g.237784189G>TCA345413422RYR2c.*3569G>T (n.*3569G>T)
c.12465G>T (p.Gln4155His)
c.12498G>T (p.Gln4166His)
c.4654G>T
c.12477G>T (p.Gln4159His)
c.2530G>T
c.12429G>T (p.Gln4143His)
n.3672G>T
c.12531G>T (p.Gln4177His)
c.12528G>T (p.Gln4176His)
c.12507G>T (p.Gln4169His)
c.12501G>T (p.Gln4167His)
c.12495G>T (p.Gln4165His)
c.12471G>T (p.Gln4157His)
c.12294G>T (p.Gln4098His)
c.12438G>T (p.Gln4146His)
c.12510G>T (p.Gln4170His)
 ClinVar dbSNP
1g.237784190T>ACA345413423RYR2c.*3570T>A (n.*3570T>A)
c.12466T>A (p.Trp4156Arg)
c.12499T>A (p.Trp4167Arg)
c.4655T>A
c.12478T>A (p.Trp4160Arg)
c.2531T>A
c.12430T>A (p.Trp4144Arg)
n.3673T>A
c.12532T>A (p.Trp4178Arg)
c.12529T>A (p.Trp4177Arg)
c.12508T>A (p.Trp4170Arg)
c.12502T>A (p.Trp4168Arg)
c.12496T>A (p.Trp4166Arg)
c.12472T>A (p.Trp4158Arg)
c.12295T>A (p.Trp4099Arg)
c.12439T>A (p.Trp4147Arg)
c.12511T>A (p.Trp4171Arg)
1g.237784190T>CCA345413424RYR2c.*3570T>C (n.*3570T>C)
c.12466T>C (p.Trp4156Arg)
c.12499T>C (p.Trp4167Arg)
c.4655T>C
c.12478T>C (p.Trp4160Arg)
c.2531T>C
c.12430T>C (p.Trp4144Arg)
n.3673T>C
c.12532T>C (p.Trp4178Arg)
c.12529T>C (p.Trp4177Arg)
c.12508T>C (p.Trp4170Arg)
c.12502T>C (p.Trp4168Arg)
c.12496T>C (p.Trp4166Arg)
c.12472T>C (p.Trp4158Arg)
c.12295T>C (p.Trp4099Arg)
c.12439T>C (p.Trp4147Arg)
c.12511T>C (p.Trp4171Arg)
1g.237784190T>GCA345413425RYR2c.*3570T>G (n.*3570T>G)
c.12466T>G (p.Trp4156Gly)
c.12499T>G (p.Trp4167Gly)
c.4655T>G
c.12478T>G (p.Trp4160Gly)
c.2531T>G
c.12430T>G (p.Trp4144Gly)
n.3673T>G
c.12532T>G (p.Trp4178Gly)
c.12529T>G (p.Trp4177Gly)
c.12508T>G (p.Trp4170Gly)
c.12502T>G (p.Trp4168Gly)
c.12496T>G (p.Trp4166Gly)
c.12472T>G (p.Trp4158Gly)
c.12295T>G (p.Trp4099Gly)
c.12439T>G (p.Trp4147Gly)
c.12511T>G (p.Trp4171Gly)
1g.237784191G>ACA345413426RYR2c.*3571G>A (n.*3571G>A)
c.12467G>A (p.Trp4156Ter)
c.12500G>A (p.Trp4167Ter)
c.4656G>A
c.12479G>A (p.Trp4160Ter)
c.2532G>A
c.12431G>A (p.Trp4144Ter)
n.3674G>A
c.12533G>A (p.Trp4178Ter)
c.12530G>A (p.Trp4177Ter)
c.12509G>A (p.Trp4170Ter)
c.12503G>A (p.Trp4168Ter)
c.12497G>A (p.Trp4166Ter)
c.12473G>A (p.Trp4158Ter)
c.12296G>A (p.Trp4099Ter)
c.12440G>A (p.Trp4147Ter)
c.12512G>A (p.Trp4171Ter)
1g.237784191G>CCA345413427RYR2c.*3571G>C (n.*3571G>C)
c.12467G>C (p.Trp4156Ser)
c.12500G>C (p.Trp4167Ser)
c.4656G>C
c.12479G>C (p.Trp4160Ser)
c.2532G>C
c.12431G>C (p.Trp4144Ser)
n.3674G>C
c.12533G>C (p.Trp4178Ser)
c.12530G>C (p.Trp4177Ser)
c.12509G>C (p.Trp4170Ser)
c.12503G>C (p.Trp4168Ser)
c.12497G>C (p.Trp4166Ser)
c.12473G>C (p.Trp4158Ser)
c.12296G>C (p.Trp4099Ser)
c.12440G>C (p.Trp4147Ser)
c.12512G>C (p.Trp4171Ser)
1g.237784191G>TCA345413428RYR2c.*3571G>T (n.*3571G>T)
c.12467G>T (p.Trp4156Leu)
c.12500G>T (p.Trp4167Leu)
c.4656G>T
c.12479G>T (p.Trp4160Leu)
c.2532G>T
c.12431G>T (p.Trp4144Leu)
n.3674G>T
c.12533G>T (p.Trp4178Leu)
c.12530G>T (p.Trp4177Leu)
c.12509G>T (p.Trp4170Leu)
c.12503G>T (p.Trp4168Leu)
c.12497G>T (p.Trp4166Leu)
c.12473G>T (p.Trp4158Leu)
c.12296G>T (p.Trp4099Leu)
c.12440G>T (p.Trp4147Leu)
c.12512G>T (p.Trp4171Leu)
1g.237784192G>ACA345413429RYR2c.*3572G>A (n.*3572G>A)
c.12468G>A (p.Trp4156Ter)
c.12501G>A (p.Trp4167Ter)
c.4657G>A
c.12480G>A (p.Trp4160Ter)
c.2533G>A
c.12432G>A (p.Trp4144Ter)
n.3675G>A
c.12534G>A (p.Trp4178Ter)
c.12531G>A (p.Trp4177Ter)
c.12510G>A (p.Trp4170Ter)
c.12504G>A (p.Trp4168Ter)
c.12498G>A (p.Trp4166Ter)
c.12474G>A (p.Trp4158Ter)
c.12297G>A (p.Trp4099Ter)
c.12441G>A (p.Trp4147Ter)
c.12513G>A (p.Trp4171Ter)
 gnomAD v4
1g.237784192G>CCA345413430RYR2c.*3572G>C (n.*3572G>C)
c.12468G>C (p.Trp4156Cys)
c.12501G>C (p.Trp4167Cys)
c.4657G>C
c.12480G>C (p.Trp4160Cys)
c.2533G>C
c.12432G>C (p.Trp4144Cys)
n.3675G>C
c.12534G>C (p.Trp4178Cys)
c.12531G>C (p.Trp4177Cys)
c.12510G>C (p.Trp4170Cys)
c.12504G>C (p.Trp4168Cys)
c.12498G>C (p.Trp4166Cys)
c.12474G>C (p.Trp4158Cys)
c.12297G>C (p.Trp4099Cys)
c.12441G>C (p.Trp4147Cys)
c.12513G>C (p.Trp4171Cys)
1g.237784192G>TCA345413431RYR2c.*3572G>T (n.*3572G>T)
c.12468G>T (p.Trp4156Cys)
c.12501G>T (p.Trp4167Cys)
c.4657G>T
c.12480G>T (p.Trp4160Cys)
c.2533G>T
c.12432G>T (p.Trp4144Cys)
n.3675G>T
c.12534G>T (p.Trp4178Cys)
c.12531G>T (p.Trp4177Cys)
c.12510G>T (p.Trp4170Cys)
c.12504G>T (p.Trp4168Cys)
c.12498G>T (p.Trp4166Cys)
c.12474G>T (p.Trp4158Cys)
c.12297G>T (p.Trp4099Cys)
c.12441G>T (p.Trp4147Cys)
c.12513G>T (p.Trp4171Cys)
 COSMIC COSMIC
1g.237784193G>ACA345413434RYR2c.*3573G>A (n.*3573G>A)
c.12469G>A (p.Glu4157Lys)
c.12502G>A (p.Glu4168Lys)
c.4658G>A
c.12481G>A (p.Glu4161Lys)
c.2534G>A
c.12433G>A (p.Glu4145Lys)
n.3676G>A
c.12535G>A (p.Glu4179Lys)
c.12532G>A (p.Glu4178Lys)
c.12511G>A (p.Glu4171Lys)
c.12505G>A (p.Glu4169Lys)
c.12499G>A (p.Glu4167Lys)
c.12475G>A (p.Glu4159Lys)
c.12298G>A (p.Glu4100Lys)
c.12442G>A (p.Glu4148Lys)
c.12514G>A (p.Glu4172Lys)
 ClinVar
1g.237784193G>CCA345413432RYR2c.*3573G>C (n.*3573G>C)
c.12469G>C (p.Glu4157Gln)
c.12502G>C (p.Glu4168Gln)
c.4658G>C
c.12481G>C (p.Glu4161Gln)
c.2534G>C
c.12433G>C (p.Glu4145Gln)
n.3676G>C
c.12535G>C (p.Glu4179Gln)
c.12532G>C (p.Glu4178Gln)
c.12511G>C (p.Glu4171Gln)
c.12505G>C (p.Glu4169Gln)
c.12499G>C (p.Glu4167Gln)
c.12475G>C (p.Glu4159Gln)
c.12298G>C (p.Glu4100Gln)
c.12442G>C (p.Glu4148Gln)
c.12514G>C (p.Glu4172Gln)
 dbSNP
1g.237784193G=CA2487482424RYR2c.*3573G= (n.*3573G=)
c.12469G= (p.Glu4157=)
c.12502G= (p.Glu4168=)
c.4658G=
c.12481G= (p.Glu4161=)
c.2534G=
c.12433G= (p.Glu4145=)
n.3676G=
c.12535G= (p.Glu4179=)
c.12532G= (p.Glu4178=)
c.12511G= (p.Glu4171=)
c.12505G= (p.Glu4169=)
c.12499G= (p.Glu4167=)
c.12475G= (p.Glu4159=)
c.12298G= (p.Glu4100=)
c.12442G= (p.Glu4148=)
c.12514G= (p.Glu4172=)
1g.237784193G>TCA345413433RYR2c.*3573G>T (n.*3573G>T)
c.12469G>T (p.Glu4157Ter)
c.12502G>T (p.Glu4168Ter)
c.4658G>T
c.12481G>T (p.Glu4161Ter)
c.2534G>T
c.12433G>T (p.Glu4145Ter)
n.3676G>T
c.12535G>T (p.Glu4179Ter)
c.12532G>T (p.Glu4178Ter)
c.12511G>T (p.Glu4171Ter)
c.12505G>T (p.Glu4169Ter)
c.12499G>T (p.Glu4167Ter)
c.12475G>T (p.Glu4159Ter)
c.12298G>T (p.Glu4100Ter)
c.12442G>T (p.Glu4148Ter)
c.12514G>T (p.Glu4172Ter)
 gnomAD v4
1g.237784194A>CCA345413435RYR2c.*3574A>C (n.*3574A>C)
c.12470A>C (p.Glu4157Ala)
c.12503A>C (p.Glu4168Ala)
c.4659A>C
c.12482A>C (p.Glu4161Ala)
c.2535A>C
c.12434A>C (p.Glu4145Ala)
n.3677A>C
c.12536A>C (p.Glu4179Ala)
c.12533A>C (p.Glu4178Ala)
c.12512A>C (p.Glu4171Ala)
c.12506A>C (p.Glu4169Ala)
c.12500A>C (p.Glu4167Ala)
c.12476A>C (p.Glu4159Ala)
c.12299A>C (p.Glu4100Ala)
c.12443A>C (p.Glu4148Ala)
c.12515A>C (p.Glu4172Ala)
1g.237784194A>GCA345413436RYR2c.*3574A>G (n.*3574A>G)
c.12470A>G (p.Glu4157Gly)
c.12503A>G (p.Glu4168Gly)
c.4659A>G
c.12482A>G (p.Glu4161Gly)
c.2535A>G
c.12434A>G (p.Glu4145Gly)
n.3677A>G
c.12536A>G (p.Glu4179Gly)
c.12533A>G (p.Glu4178Gly)
c.12512A>G (p.Glu4171Gly)
c.12506A>G (p.Glu4169Gly)
c.12500A>G (p.Glu4167Gly)
c.12476A>G (p.Glu4159Gly)
c.12299A>G (p.Glu4100Gly)
c.12443A>G (p.Glu4148Gly)
c.12515A>G (p.Glu4172Gly)
 gnomAD v4 COSMIC
1g.237784194A>TCA345413437RYR2c.*3574A>T (n.*3574A>T)
c.12470A>T (p.Glu4157Val)
c.12503A>T (p.Glu4168Val)
c.4659A>T
c.12482A>T (p.Glu4161Val)
c.2535A>T
c.12434A>T (p.Glu4145Val)
n.3677A>T
c.12536A>T (p.Glu4179Val)
c.12533A>T (p.Glu4178Val)
c.12512A>T (p.Glu4171Val)
c.12506A>T (p.Glu4169Val)
c.12500A>T (p.Glu4167Val)
c.12476A>T (p.Glu4159Val)
c.12299A>T (p.Glu4100Val)
c.12443A>T (p.Glu4148Val)
c.12515A>T (p.Glu4172Val)
1g.237784195G>ACA424032248RYR2c.*3575G>A (n.*3575G>A)
c.12471G>A (p.Glu4157=)
c.12504G>A (p.Glu4168=)
c.4660G>A
c.12483G>A (p.Glu4161=)
c.2536G>A
c.12435G>A (p.Glu4145=)
n.3678G>A
c.12537G>A (p.Glu4179=)
c.12534G>A (p.Glu4178=)
c.12513G>A (p.Glu4171=)
c.12507G>A (p.Glu4169=)
c.12501G>A (p.Glu4167=)
c.12477G>A (p.Glu4159=)
c.12300G>A (p.Glu4100=)
c.12444G>A (p.Glu4148=)
c.12516G>A (p.Glu4172=)
 dbSNP gnomAD v4
1g.237784195G>CCA345413438RYR2c.*3575G>C (n.*3575G>C)
c.12471G>C (p.Glu4157Asp)
c.12504G>C (p.Glu4168Asp)
c.4660G>C
c.12483G>C (p.Glu4161Asp)
c.2536G>C
c.12435G>C (p.Glu4145Asp)
n.3678G>C
c.12537G>C (p.Glu4179Asp)
c.12534G>C (p.Glu4178Asp)
c.12513G>C (p.Glu4171Asp)
c.12507G>C (p.Glu4169Asp)
c.12501G>C (p.Glu4167Asp)
c.12477G>C (p.Glu4159Asp)
c.12300G>C (p.Glu4100Asp)
c.12444G>C (p.Glu4148Asp)
c.12516G>C (p.Glu4172Asp)
1g.237784195G>TCA345413439RYR2c.*3575G>T (n.*3575G>T)
c.12471G>T (p.Glu4157Asp)
c.12504G>T (p.Glu4168Asp)
c.4660G>T
c.12483G>T (p.Glu4161Asp)
c.2536G>T
c.12435G>T (p.Glu4145Asp)
n.3678G>T
c.12537G>T (p.Glu4179Asp)
c.12534G>T (p.Glu4178Asp)
c.12513G>T (p.Glu4171Asp)
c.12507G>T (p.Glu4169Asp)
c.12501G>T (p.Glu4167Asp)
c.12477G>T (p.Glu4159Asp)
c.12300G>T (p.Glu4100Asp)
c.12444G>T (p.Glu4148Asp)
c.12516G>T (p.Glu4172Asp)
1g.237784196A>CCA345413440RYR2c.*3576A>C (n.*3576A>C)
c.12472A>C (p.Lys4158Gln)
c.12505A>C (p.Lys4169Gln)
c.4661A>C
c.12484A>C (p.Lys4162Gln)
c.2537A>C
c.12436A>C (p.Lys4146Gln)
n.3679A>C
c.12538A>C (p.Lys4180Gln)
c.12535A>C (p.Lys4179Gln)
c.12514A>C (p.Lys4172Gln)
c.12508A>C (p.Lys4170Gln)
c.12502A>C (p.Lys4168Gln)
c.12478A>C (p.Lys4160Gln)
c.12301A>C (p.Lys4101Gln)
c.12445A>C (p.Lys4149Gln)
c.12517A>C (p.Lys4173Gln)
1g.237784196A>GCA345413441RYR2c.*3576A>G (n.*3576A>G)
c.12472A>G (p.Lys4158Glu)
c.12505A>G (p.Lys4169Glu)
c.4661A>G
c.12484A>G (p.Lys4162Glu)
c.2537A>G
c.12436A>G (p.Lys4146Glu)
n.3679A>G
c.12538A>G (p.Lys4180Glu)
c.12535A>G (p.Lys4179Glu)
c.12514A>G (p.Lys4172Glu)
c.12508A>G (p.Lys4170Glu)
c.12502A>G (p.Lys4168Glu)
c.12478A>G (p.Lys4160Glu)
c.12301A>G (p.Lys4101Glu)
c.12445A>G (p.Lys4149Glu)
c.12517A>G (p.Lys4173Glu)
1g.237784196A>TCA345413442RYR2c.*3576A>T (n.*3576A>T)
c.12472A>T (p.Lys4158Ter)
c.12505A>T (p.Lys4169Ter)
c.4661A>T
c.12484A>T (p.Lys4162Ter)
c.2537A>T
c.12436A>T (p.Lys4146Ter)
n.3679A>T
c.12538A>T (p.Lys4180Ter)
c.12535A>T (p.Lys4179Ter)
c.12514A>T (p.Lys4172Ter)
c.12508A>T (p.Lys4170Ter)
c.12502A>T (p.Lys4168Ter)
c.12478A>T (p.Lys4160Ter)
c.12301A>T (p.Lys4101Ter)
c.12445A>T (p.Lys4149Ter)
c.12517A>T (p.Lys4173Ter)
1g.237784197A>CCA345413444RYR2c.*3577A>C (n.*3577A>C)
c.12473A>C (p.Lys4158Thr)
c.12506A>C (p.Lys4169Thr)
c.4662A>C
c.12485A>C (p.Lys4162Thr)
c.2538A>C
c.12437A>C (p.Lys4146Thr)
n.3680A>C
c.12539A>C (p.Lys4180Thr)
c.12536A>C (p.Lys4179Thr)
c.12515A>C (p.Lys4172Thr)
c.12509A>C (p.Lys4170Thr)
c.12503A>C (p.Lys4168Thr)
c.12479A>C (p.Lys4160Thr)
c.12302A>C (p.Lys4101Thr)
c.12446A>C (p.Lys4149Thr)
c.12518A>C (p.Lys4173Thr)
1g.237784197A>GCA345413445RYR2c.*3577A>G (n.*3577A>G)
c.12473A>G (p.Lys4158Arg)
c.12506A>G (p.Lys4169Arg)
c.4662A>G
c.12485A>G (p.Lys4162Arg)
c.2538A>G
c.12437A>G (p.Lys4146Arg)
n.3680A>G
c.12539A>G (p.Lys4180Arg)
c.12536A>G (p.Lys4179Arg)
c.12515A>G (p.Lys4172Arg)
c.12509A>G (p.Lys4170Arg)
c.12503A>G (p.Lys4168Arg)
c.12479A>G (p.Lys4160Arg)
c.12302A>G (p.Lys4101Arg)
c.12446A>G (p.Lys4149Arg)
c.12518A>G (p.Lys4173Arg)
1g.237784197A>TCA345413446RYR2c.*3577A>T (n.*3577A>T)
c.12473A>T (p.Lys4158Met)
c.12506A>T (p.Lys4169Met)
c.4662A>T
c.12485A>T (p.Lys4162Met)
c.2538A>T
c.12437A>T (p.Lys4146Met)
n.3680A>T
c.12539A>T (p.Lys4180Met)
c.12536A>T (p.Lys4179Met)
c.12515A>T (p.Lys4172Met)
c.12509A>T (p.Lys4170Met)
c.12503A>T (p.Lys4168Met)
c.12479A>T (p.Lys4160Met)
c.12302A>T (p.Lys4101Met)
c.12446A>T (p.Lys4149Met)
c.12518A>T (p.Lys4173Met)
1g.237784198G>ACA424032250RYR2c.*3578G>A (n.*3578G>A)
c.12474G>A (p.Lys4158=)
c.12507G>A (p.Lys4169=)
c.4663G>A
c.12486G>A (p.Lys4162=)
c.2539G>A
c.12438G>A (p.Lys4146=)
n.3681G>A
c.12540G>A (p.Lys4180=)
c.12537G>A (p.Lys4179=)
c.12516G>A (p.Lys4172=)
c.12510G>A (p.Lys4170=)
c.12504G>A (p.Lys4168=)
c.12480G>A (p.Lys4160=)
c.12303G>A (p.Lys4101=)
c.12447G>A (p.Lys4149=)
c.12519G>A (p.Lys4173=)
 gnomAD v4
1g.237784198G>CCA345413448RYR2c.*3578G>C (n.*3578G>C)
c.12474G>C (p.Lys4158Asn)
c.12507G>C (p.Lys4169Asn)
c.4663G>C
c.12486G>C (p.Lys4162Asn)
c.2539G>C
c.12438G>C (p.Lys4146Asn)
n.3681G>C
c.12540G>C (p.Lys4180Asn)
c.12537G>C (p.Lys4179Asn)
c.12516G>C (p.Lys4172Asn)
c.12510G>C (p.Lys4170Asn)
c.12504G>C (p.Lys4168Asn)
c.12480G>C (p.Lys4160Asn)
c.12303G>C (p.Lys4101Asn)
c.12447G>C (p.Lys4149Asn)
c.12519G>C (p.Lys4173Asn)
1g.237784198G>TCA345413447RYR2c.*3578G>T (n.*3578G>T)
c.12474G>T (p.Lys4158Asn)
c.12507G>T (p.Lys4169Asn)
c.4663G>T
c.12486G>T (p.Lys4162Asn)
c.2539G>T
c.12438G>T (p.Lys4146Asn)
n.3681G>T
c.12540G>T (p.Lys4180Asn)
c.12537G>T (p.Lys4179Asn)
c.12516G>T (p.Lys4172Asn)
c.12510G>T (p.Lys4170Asn)
c.12504G>T (p.Lys4168Asn)
c.12480G>T (p.Lys4160Asn)
c.12303G>T (p.Lys4101Asn)
c.12447G>T (p.Lys4149Asn)
c.12519G>T (p.Lys4173Asn)
1g.237784199C>ACA345413449RYR2c.*3579C>A (n.*3579C>A)
c.12475C>A (p.Pro4159Thr)
c.12508C>A (p.Pro4170Thr)
c.4664C>A
c.12487C>A (p.Pro4163Thr)
c.2540C>A
c.12439C>A (p.Pro4147Thr)
n.3682C>A
c.12541C>A (p.Pro4181Thr)
c.12538C>A (p.Pro4180Thr)
c.12517C>A (p.Pro4173Thr)
c.12511C>A (p.Pro4171Thr)
c.12505C>A (p.Pro4169Thr)
c.12481C>A (p.Pro4161Thr)
c.12304C>A (p.Pro4102Thr)
c.12448C>A (p.Pro4150Thr)
c.12520C>A (p.Pro4174Thr)
 dbSNP
1g.237784199C=CA2487482425RYR2c.*3579C= (n.*3579C=)
c.12475C= (p.Pro4159=)
c.12508C= (p.Pro4170=)
c.4664C=
c.12487C= (p.Pro4163=)
c.2540C=
c.12439C= (p.Pro4147=)
n.3682C=
c.12541C= (p.Pro4181=)
c.12538C= (p.Pro4180=)
c.12517C= (p.Pro4173=)
c.12511C= (p.Pro4171=)
c.12505C= (p.Pro4169=)
c.12481C= (p.Pro4161=)
c.12304C= (p.Pro4102=)
c.12448C= (p.Pro4150=)
c.12520C= (p.Pro4174=)
1g.237784199C>GCA345413450RYR2c.*3579C>G (n.*3579C>G)
c.12475C>G (p.Pro4159Ala)
c.12508C>G (p.Pro4170Ala)
c.4664C>G
c.12487C>G (p.Pro4163Ala)
c.2540C>G
c.12439C>G (p.Pro4147Ala)
n.3682C>G
c.12541C>G (p.Pro4181Ala)
c.12538C>G (p.Pro4180Ala)
c.12517C>G (p.Pro4173Ala)
c.12511C>G (p.Pro4171Ala)
c.12505C>G (p.Pro4169Ala)
c.12481C>G (p.Pro4161Ala)
c.12304C>G (p.Pro4102Ala)
c.12448C>G (p.Pro4150Ala)
c.12520C>G (p.Pro4174Ala)
 ClinVar
1g.237784199C>TCA345413451RYR2c.*3579C>T (n.*3579C>T)
c.12475C>T (p.Pro4159Ser)
c.12508C>T (p.Pro4170Ser)
c.4664C>T
c.12487C>T (p.Pro4163Ser)
c.2540C>T
c.12439C>T (p.Pro4147Ser)
n.3682C>T
c.12541C>T (p.Pro4181Ser)
c.12538C>T (p.Pro4180Ser)
c.12517C>T (p.Pro4173Ser)
c.12511C>T (p.Pro4171Ser)
c.12505C>T (p.Pro4169Ser)
c.12481C>T (p.Pro4161Ser)
c.12304C>T (p.Pro4102Ser)
c.12448C>T (p.Pro4150Ser)
c.12520C>T (p.Pro4174Ser)
1g.237784200C>ACA345413452RYR2c.*3580C>A (n.*3580C>A)
c.12476C>A (p.Pro4159His)
c.12509C>A (p.Pro4170His)
c.4665C>A
c.12488C>A (p.Pro4163His)
c.2541C>A
c.12440C>A (p.Pro4147His)
n.3683C>A
c.12542C>A (p.Pro4181His)
c.12539C>A (p.Pro4180His)
c.12518C>A (p.Pro4173His)
c.12512C>A (p.Pro4171His)
c.12506C>A (p.Pro4169His)
c.12482C>A (p.Pro4161His)
c.12305C>A (p.Pro4102His)
c.12449C>A (p.Pro4150His)
c.12521C>A (p.Pro4174His)
1g.237784200C>GCA345413453RYR2c.*3580C>G (n.*3580C>G)
c.12476C>G (p.Pro4159Arg)
c.12509C>G (p.Pro4170Arg)
c.4665C>G
c.12488C>G (p.Pro4163Arg)
c.2541C>G
c.12440C>G (p.Pro4147Arg)
n.3683C>G
c.12542C>G (p.Pro4181Arg)
c.12539C>G (p.Pro4180Arg)
c.12518C>G (p.Pro4173Arg)
c.12512C>G (p.Pro4171Arg)
c.12506C>G (p.Pro4169Arg)
c.12482C>G (p.Pro4161Arg)
c.12305C>G (p.Pro4102Arg)
c.12449C>G (p.Pro4150Arg)
c.12521C>G (p.Pro4174Arg)
1g.237784200C>TCA345413454RYR2c.*3580C>T (n.*3580C>T)
c.12476C>T (p.Pro4159Leu)
c.12509C>T (p.Pro4170Leu)
c.4665C>T
c.12488C>T (p.Pro4163Leu)
c.2541C>T
c.12440C>T (p.Pro4147Leu)
n.3683C>T
c.12542C>T (p.Pro4181Leu)
c.12539C>T (p.Pro4180Leu)
c.12518C>T (p.Pro4173Leu)
c.12512C>T (p.Pro4171Leu)
c.12506C>T (p.Pro4169Leu)
c.12482C>T (p.Pro4161Leu)
c.12305C>T (p.Pro4102Leu)
c.12449C>T (p.Pro4150Leu)
c.12521C>T (p.Pro4174Leu)
 COSMIC COSMIC
1g.237784201C>ACA424032254RYR2c.*3581C>A (n.*3581C>A)
c.12477C>A (p.Pro4159=)
c.12510C>A (p.Pro4170=)
c.4666C>A
c.12489C>A (p.Pro4163=)
c.2542C>A
c.12441C>A (p.Pro4147=)
n.3684C>A
c.12543C>A (p.Pro4181=)
c.12540C>A (p.Pro4180=)
c.12519C>A (p.Pro4173=)
c.12513C>A (p.Pro4171=)
c.12507C>A (p.Pro4169=)
c.12483C>A (p.Pro4161=)
c.12306C>A (p.Pro4102=)
c.12450C>A (p.Pro4150=)
c.12522C>A (p.Pro4174=)
1g.237784201C=CA2487482426RYR2c.*3581C= (n.*3581C=)
c.12477C= (p.Pro4159=)
c.12510C= (p.Pro4170=)
c.4666C=
c.12489C= (p.Pro4163=)
c.2542C=
c.12441C= (p.Pro4147=)
n.3684C=
c.12543C= (p.Pro4181=)
c.12540C= (p.Pro4180=)
c.12519C= (p.Pro4173=)
c.12513C= (p.Pro4171=)
c.12507C= (p.Pro4169=)
c.12483C= (p.Pro4161=)
c.12306C= (p.Pro4102=)
c.12450C= (p.Pro4150=)
c.12522C= (p.Pro4174=)
1g.237784201C>GCA424032253RYR2c.*3581C>G (n.*3581C>G)
c.12477C>G (p.Pro4159=)
c.12510C>G (p.Pro4170=)
c.4666C>G
c.12489C>G (p.Pro4163=)
c.2542C>G
c.12441C>G (p.Pro4147=)
n.3684C>G
c.12543C>G (p.Pro4181=)
c.12540C>G (p.Pro4180=)
c.12519C>G (p.Pro4173=)
c.12513C>G (p.Pro4171=)
c.12507C>G (p.Pro4169=)
c.12483C>G (p.Pro4161=)
c.12306C>G (p.Pro4102=)
c.12450C>G (p.Pro4150=)
c.12522C>G (p.Pro4174=)
1g.237784201C>TCA085188RYR2c.*3581C>T (n.*3581C>T)
c.12477C>T (p.Pro4159=)
c.12510C>T (p.Pro4170=)
c.4666C>T
c.12489C>T (p.Pro4163=)
c.2542C>T
c.12441C>T (p.Pro4147=)
n.3684C>T
c.12543C>T (p.Pro4181=)
c.12540C>T (p.Pro4180=)
c.12519C>T (p.Pro4173=)
c.12513C>T (p.Pro4171=)
c.12507C>T (p.Pro4169=)
c.12483C>T (p.Pro4161=)
c.12306C>T (p.Pro4102=)
c.12450C>T (p.Pro4150=)
c.12522C>T (p.Pro4174=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784202C>ACA345413458RYR2c.*3582C>A (n.*3582C>A)
c.12478C>A (p.Gln4160Lys)
c.12511C>A (p.Gln4171Lys)
c.4667C>A
c.12490C>A (p.Gln4164Lys)
c.2543C>A
c.12442C>A (p.Gln4148Lys)
n.3685C>A
c.12544C>A (p.Gln4182Lys)
c.12541C>A (p.Gln4181Lys)
c.12520C>A (p.Gln4174Lys)
c.12514C>A (p.Gln4172Lys)
c.12508C>A (p.Gln4170Lys)
c.12484C>A (p.Gln4162Lys)
c.12307C>A (p.Gln4103Lys)
c.12451C>A (p.Gln4151Lys)
c.12523C>A (p.Gln4175Lys)
1g.237784202C>GCA345413459RYR2c.*3582C>G (n.*3582C>G)
c.12478C>G (p.Gln4160Glu)
c.12511C>G (p.Gln4171Glu)
c.4667C>G
c.12490C>G (p.Gln4164Glu)
c.2543C>G
c.12442C>G (p.Gln4148Glu)
n.3685C>G
c.12544C>G (p.Gln4182Glu)
c.12541C>G (p.Gln4181Glu)
c.12520C>G (p.Gln4174Glu)
c.12514C>G (p.Gln4172Glu)
c.12508C>G (p.Gln4170Glu)
c.12484C>G (p.Gln4162Glu)
c.12307C>G (p.Gln4103Glu)
c.12451C>G (p.Gln4151Glu)
c.12523C>G (p.Gln4175Glu)
1g.237784202C>TCA345413460RYR2c.*3582C>T (n.*3582C>T)
c.12478C>T (p.Gln4160Ter)
c.12511C>T (p.Gln4171Ter)
c.4667C>T
c.12490C>T (p.Gln4164Ter)
c.2543C>T
c.12442C>T (p.Gln4148Ter)
n.3685C>T
c.12544C>T (p.Gln4182Ter)
c.12541C>T (p.Gln4181Ter)
c.12520C>T (p.Gln4174Ter)
c.12514C>T (p.Gln4172Ter)
c.12508C>T (p.Gln4170Ter)
c.12484C>T (p.Gln4162Ter)
c.12307C>T (p.Gln4103Ter)
c.12451C>T (p.Gln4151Ter)
c.12523C>T (p.Gln4175Ter)
1g.237784203A>CCA345413461RYR2c.*3583A>C (n.*3583A>C)
c.12479A>C (p.Gln4160Pro)
c.12512A>C (p.Gln4171Pro)
c.4668A>C
c.12491A>C (p.Gln4164Pro)
c.2544A>C
c.12443A>C (p.Gln4148Pro)
n.3686A>C
c.12545A>C (p.Gln4182Pro)
c.12542A>C (p.Gln4181Pro)
c.12521A>C (p.Gln4174Pro)
c.12515A>C (p.Gln4172Pro)
c.12509A>C (p.Gln4170Pro)
c.12485A>C (p.Gln4162Pro)
c.12308A>C (p.Gln4103Pro)
c.12452A>C (p.Gln4151Pro)
c.12524A>C (p.Gln4175Pro)
1g.237784203A>GCA345413462RYR2c.*3583A>G (n.*3583A>G)
c.12479A>G (p.Gln4160Arg)
c.12512A>G (p.Gln4171Arg)
c.4668A>G
c.12491A>G (p.Gln4164Arg)
c.2544A>G
c.12443A>G (p.Gln4148Arg)
n.3686A>G
c.12545A>G (p.Gln4182Arg)
c.12542A>G (p.Gln4181Arg)
c.12521A>G (p.Gln4174Arg)
c.12515A>G (p.Gln4172Arg)
c.12509A>G (p.Gln4170Arg)
c.12485A>G (p.Gln4162Arg)
c.12308A>G (p.Gln4103Arg)
c.12452A>G (p.Gln4151Arg)
c.12524A>G (p.Gln4175Arg)
1g.237784203A>TCA345413463RYR2c.*3583A>T (n.*3583A>T)
c.12479A>T (p.Gln4160Leu)
c.12512A>T (p.Gln4171Leu)
c.4668A>T
c.12491A>T (p.Gln4164Leu)
c.2544A>T
c.12443A>T (p.Gln4148Leu)
n.3686A>T
c.12545A>T (p.Gln4182Leu)
c.12542A>T (p.Gln4181Leu)
c.12521A>T (p.Gln4174Leu)
c.12515A>T (p.Gln4172Leu)
c.12509A>T (p.Gln4170Leu)
c.12485A>T (p.Gln4162Leu)
c.12308A>T (p.Gln4103Leu)
c.12452A>T (p.Gln4151Leu)
c.12524A>T (p.Gln4175Leu)
1g.237784204G>ACA007543RYR2c.*3584G>A (n.*3584G>A)
c.12480G>A (p.Gln4160=)
c.12513G>A (p.Gln4171=)
c.4669G>A
c.12492G>A (p.Gln4164=)
c.2545G>A
c.12444G>A (p.Gln4148=)
n.3687G>A
c.12546G>A (p.Gln4182=)
c.12543G>A (p.Gln4181=)
c.12522G>A (p.Gln4174=)
c.12516G>A (p.Gln4172=)
c.12510G>A (p.Gln4170=)
c.12486G>A (p.Gln4162=)
c.12309G>A (p.Gln4103=)
c.12453G>A (p.Gln4151=)
c.12525G>A (p.Gln4175=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.237784204G>CCA345413464RYR2c.*3584G>C (n.*3584G>C)
c.12480G>C (p.Gln4160His)
c.12513G>C (p.Gln4171His)
c.4669G>C
c.12492G>C (p.Gln4164His)
c.2545G>C
c.12444G>C (p.Gln4148His)
n.3687G>C
c.12546G>C (p.Gln4182His)
c.12543G>C (p.Gln4181His)
c.12522G>C (p.Gln4174His)
c.12516G>C (p.Gln4172His)
c.12510G>C (p.Gln4170His)
c.12486G>C (p.Gln4162His)
c.12309G>C (p.Gln4103His)
c.12453G>C (p.Gln4151His)
c.12525G>C (p.Gln4175His)
1g.237784204G=CA1144183738RYR2c.*3584G= (n.*3584G=)
c.12480G= (p.Gln4160=)
c.12513G= (p.Gln4171=)
c.4669G=
c.12492G= (p.Gln4164=)
c.2545G=
c.12444G= (p.Gln4148=)
n.3687G=
c.12546G= (p.Gln4182=)
c.12543G= (p.Gln4181=)
c.12522G= (p.Gln4174=)
c.12516G= (p.Gln4172=)
c.12510G= (p.Gln4170=)
c.12486G= (p.Gln4162=)
c.12309G= (p.Gln4103=)
c.12453G= (p.Gln4151=)
c.12525G= (p.Gln4175=)
1g.237784204G>TCA345413465RYR2c.*3584G>T (n.*3584G>T)
c.12480G>T (p.Gln4160His)
c.12513G>T (p.Gln4171His)
c.4669G>T
c.12492G>T (p.Gln4164His)
c.2545G>T
c.12444G>T (p.Gln4148His)
n.3687G>T
c.12546G>T (p.Gln4182His)
c.12543G>T (p.Gln4181His)
c.12522G>T (p.Gln4174His)
c.12516G>T (p.Gln4172His)
c.12510G>T (p.Gln4170His)
c.12486G>T (p.Gln4162His)
c.12309G>T (p.Gln4103His)
c.12453G>T (p.Gln4151His)
c.12525G>T (p.Gln4175His)
 COSMIC COSMIC
1g.237784205G>ACA345413466RYR2c.*3585G>A (n.*3585G>A)
c.12481G>A (p.Val4161Ile)
c.12514G>A (p.Val4172Ile)
c.4670G>A
c.12493G>A (p.Val4165Ile)
c.2546G>A
c.12445G>A (p.Val4149Ile)
n.3688G>A
c.12547G>A (p.Val4183Ile)
c.12544G>A (p.Val4182Ile)
c.12523G>A (p.Val4175Ile)
c.12517G>A (p.Val4173Ile)
c.12511G>A (p.Val4171Ile)
c.12487G>A (p.Val4163Ile)
c.12310G>A (p.Val4104Ile)
c.12454G>A (p.Val4152Ile)
c.12526G>A (p.Val4176Ile)
1g.237784205G>CCA345413467RYR2c.*3585G>C (n.*3585G>C)
c.12481G>C (p.Val4161Leu)
c.12514G>C (p.Val4172Leu)
c.4670G>C
c.12493G>C (p.Val4165Leu)
c.2546G>C
c.12445G>C (p.Val4149Leu)
n.3688G>C
c.12547G>C (p.Val4183Leu)
c.12544G>C (p.Val4182Leu)
c.12523G>C (p.Val4175Leu)
c.12517G>C (p.Val4173Leu)
c.12511G>C (p.Val4171Leu)
c.12487G>C (p.Val4163Leu)
c.12310G>C (p.Val4104Leu)
c.12454G>C (p.Val4152Leu)
c.12526G>C (p.Val4176Leu)
1g.237784205G>TCA345413468RYR2c.*3585G>T (n.*3585G>T)
c.12481G>T (p.Val4161Phe)
c.12514G>T (p.Val4172Phe)
c.4670G>T
c.12493G>T (p.Val4165Phe)
c.2546G>T
c.12445G>T (p.Val4149Phe)
n.3688G>T
c.12547G>T (p.Val4183Phe)
c.12544G>T (p.Val4182Phe)
c.12523G>T (p.Val4175Phe)
c.12517G>T (p.Val4173Phe)
c.12511G>T (p.Val4171Phe)
c.12487G>T (p.Val4163Phe)
c.12310G>T (p.Val4104Phe)
c.12454G>T (p.Val4152Phe)
c.12526G>T (p.Val4176Phe)
1g.237784206T>ACA345413469RYR2c.*3586T>A (n.*3586T>A)
c.12482T>A (p.Val4161Asp)
c.12515T>A (p.Val4172Asp)
c.4671T>A
c.12494T>A (p.Val4165Asp)
c.2547T>A
c.12446T>A (p.Val4149Asp)
n.3689T>A
c.12548T>A (p.Val4183Asp)
c.12545T>A (p.Val4182Asp)
c.12524T>A (p.Val4175Asp)
c.12518T>A (p.Val4173Asp)
c.12512T>A (p.Val4171Asp)
c.12488T>A (p.Val4163Asp)
c.12311T>A (p.Val4104Asp)
c.12455T>A (p.Val4152Asp)
c.12527T>A (p.Val4176Asp)
1g.237784206T>CCA345413470RYR2c.*3586T>C (n.*3586T>C)
c.12482T>C (p.Val4161Ala)
c.12515T>C (p.Val4172Ala)
c.4671T>C
c.12494T>C (p.Val4165Ala)
c.2547T>C
c.12446T>C (p.Val4149Ala)
n.3689T>C
c.12548T>C (p.Val4183Ala)
c.12545T>C (p.Val4182Ala)
c.12524T>C (p.Val4175Ala)
c.12518T>C (p.Val4173Ala)
c.12512T>C (p.Val4171Ala)
c.12488T>C (p.Val4163Ala)
c.12311T>C (p.Val4104Ala)
c.12455T>C (p.Val4152Ala)
c.12527T>C (p.Val4176Ala)
 ClinVar
1g.237784206T>GCA345413471RYR2c.*3586T>G (n.*3586T>G)
c.12482T>G (p.Val4161Gly)
c.12515T>G (p.Val4172Gly)
c.4671T>G
c.12494T>G (p.Val4165Gly)
c.2547T>G
c.12446T>G (p.Val4149Gly)
n.3689T>G
c.12548T>G (p.Val4183Gly)
c.12545T>G (p.Val4182Gly)
c.12524T>G (p.Val4175Gly)
c.12518T>G (p.Val4173Gly)
c.12512T>G (p.Val4171Gly)
c.12488T>G (p.Val4163Gly)
c.12311T>G (p.Val4104Gly)
c.12455T>G (p.Val4152Gly)
c.12527T>G (p.Val4176Gly)
1g.237784207C>ACA424032260RYR2c.*3587C>A (n.*3587C>A)
c.12483C>A (p.Val4161=)
c.12516C>A (p.Val4172=)
c.4672C>A
c.12495C>A (p.Val4165=)
c.2548C>A
c.12447C>A (p.Val4149=)
n.3690C>A
c.12549C>A (p.Val4183=)
c.12546C>A (p.Val4182=)
c.12525C>A (p.Val4175=)
c.12519C>A (p.Val4173=)
c.12513C>A (p.Val4171=)
c.12489C>A (p.Val4163=)
c.12312C>A (p.Val4104=)
c.12456C>A (p.Val4152=)
c.12528C>A (p.Val4176=)
1g.237784207C>GCA424032262RYR2c.*3587C>G (n.*3587C>G)
c.12483C>G (p.Val4161=)
c.12516C>G (p.Val4172=)
c.4672C>G
c.12495C>G (p.Val4165=)
c.2548C>G
c.12447C>G (p.Val4149=)
n.3690C>G
c.12549C>G (p.Val4183=)
c.12546C>G (p.Val4182=)
c.12525C>G (p.Val4175=)
c.12519C>G (p.Val4173=)
c.12513C>G (p.Val4171=)
c.12489C>G (p.Val4163=)
c.12312C>G (p.Val4104=)
c.12456C>G (p.Val4152=)
c.12528C>G (p.Val4176=)
 COSMIC
1g.237784207C>TCA424032261RYR2c.*3587C>T (n.*3587C>T)
c.12483C>T (p.Val4161=)
c.12516C>T (p.Val4172=)
c.4672C>T
c.12495C>T (p.Val4165=)
c.2548C>T
c.12447C>T (p.Val4149=)
n.3690C>T
c.12549C>T (p.Val4183=)
c.12546C>T (p.Val4182=)
c.12525C>T (p.Val4175=)
c.12519C>T (p.Val4173=)
c.12513C>T (p.Val4171=)
c.12489C>T (p.Val4163=)
c.12312C>T (p.Val4104=)
c.12456C>T (p.Val4152=)
c.12528C>T (p.Val4176=)
1g.237784208A>CCA345413472RYR2c.*3588A>C (n.*3588A>C)
c.12484A>C (p.Lys4162Gln)
c.12517A>C (p.Lys4173Gln)
c.4673A>C
c.12496A>C (p.Lys4166Gln)
c.2549A>C
c.12448A>C (p.Lys4150Gln)
n.3691A>C
c.12550A>C (p.Lys4184Gln)
c.12547A>C (p.Lys4183Gln)
c.12526A>C (p.Lys4176Gln)
c.12520A>C (p.Lys4174Gln)
c.12514A>C (p.Lys4172Gln)
c.12490A>C (p.Lys4164Gln)
c.12313A>C (p.Lys4105Gln)
c.12457A>C (p.Lys4153Gln)
c.12529A>C (p.Lys4177Gln)
1g.237784208A>GCA345413473RYR2c.*3588A>G (n.*3588A>G)
c.12484A>G (p.Lys4162Glu)
c.12517A>G (p.Lys4173Glu)
c.4673A>G
c.12496A>G (p.Lys4166Glu)
c.2549A>G
c.12448A>G (p.Lys4150Glu)
n.3691A>G
c.12550A>G (p.Lys4184Glu)
c.12547A>G (p.Lys4183Glu)
c.12526A>G (p.Lys4176Glu)
c.12520A>G (p.Lys4174Glu)
c.12514A>G (p.Lys4172Glu)
c.12490A>G (p.Lys4164Glu)
c.12313A>G (p.Lys4105Glu)
c.12457A>G (p.Lys4153Glu)
c.12529A>G (p.Lys4177Glu)
1g.237784208A>TCA345413474RYR2c.*3588A>T (n.*3588A>T)
c.12484A>T (p.Lys4162Ter)
c.12517A>T (p.Lys4173Ter)
c.4673A>T
c.12496A>T (p.Lys4166Ter)
c.2549A>T
c.12448A>T (p.Lys4150Ter)
n.3691A>T
c.12550A>T (p.Lys4184Ter)
c.12547A>T (p.Lys4183Ter)
c.12526A>T (p.Lys4176Ter)
c.12520A>T (p.Lys4174Ter)
c.12514A>T (p.Lys4172Ter)
c.12490A>T (p.Lys4164Ter)
c.12313A>T (p.Lys4105Ter)
c.12457A>T (p.Lys4153Ter)
c.12529A>T (p.Lys4177Ter)
1g.237784209A=CA2487482427RYR2c.*3589A= (n.*3589A=)
c.12485A= (p.Lys4162=)
c.12518A= (p.Lys4173=)
c.4674A=
c.12497A= (p.Lys4166=)
c.2550A=
c.12449A= (p.Lys4150=)
n.3692A=
c.12551A= (p.Lys4184=)
c.12548A= (p.Lys4183=)
c.12527A= (p.Lys4176=)
c.12521A= (p.Lys4174=)
c.12515A= (p.Lys4172=)
c.12491A= (p.Lys4164=)
c.12314A= (p.Lys4105=)
c.12458A= (p.Lys4153=)
c.12530A= (p.Lys4177=)
1g.237784209A>CCA345413475RYR2c.*3589A>C (n.*3589A>C)
c.12485A>C (p.Lys4162Thr)
c.12518A>C (p.Lys4173Thr)
c.4674A>C
c.12497A>C (p.Lys4166Thr)
c.2550A>C
c.12449A>C (p.Lys4150Thr)
n.3692A>C
c.12551A>C (p.Lys4184Thr)
c.12548A>C (p.Lys4183Thr)
c.12527A>C (p.Lys4176Thr)
c.12521A>C (p.Lys4174Thr)
c.12515A>C (p.Lys4172Thr)
c.12491A>C (p.Lys4164Thr)
c.12314A>C (p.Lys4105Thr)
c.12458A>C (p.Lys4153Thr)
c.12530A>C (p.Lys4177Thr)
1g.237784209A>GCA345413476RYR2c.*3589A>G (n.*3589A>G)
c.12485A>G (p.Lys4162Arg)
c.12518A>G (p.Lys4173Arg)
c.4674A>G
c.12497A>G (p.Lys4166Arg)
c.2550A>G
c.12449A>G (p.Lys4150Arg)
n.3692A>G
c.12551A>G (p.Lys4184Arg)
c.12548A>G (p.Lys4183Arg)
c.12527A>G (p.Lys4176Arg)
c.12521A>G (p.Lys4174Arg)
c.12515A>G (p.Lys4172Arg)
c.12491A>G (p.Lys4164Arg)
c.12314A>G (p.Lys4105Arg)
c.12458A>G (p.Lys4153Arg)
c.12530A>G (p.Lys4177Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.237784209A>TCA345413477RYR2c.*3589A>T (n.*3589A>T)
c.12485A>T (p.Lys4162Met)
c.12518A>T (p.Lys4173Met)
c.4674A>T
c.12497A>T (p.Lys4166Met)
c.2550A>T
c.12449A>T (p.Lys4150Met)
n.3692A>T
c.12551A>T (p.Lys4184Met)
c.12548A>T (p.Lys4183Met)
c.12527A>T (p.Lys4176Met)
c.12521A>T (p.Lys4174Met)
c.12515A>T (p.Lys4172Met)
c.12491A>T (p.Lys4164Met)
c.12314A>T (p.Lys4105Met)
c.12458A>T (p.Lys4153Met)
c.12530A>T (p.Lys4177Met)
1g.237784210G>ACA085190RYR2c.*3590G>A (n.*3590G>A)
c.12486G>A (p.Lys4162=)
c.12519G>A (p.Lys4173=)
c.4675G>A
c.12498G>A (p.Lys4166=)
c.2551G>A
c.12450G>A (p.Lys4150=)
n.3693G>A
c.12552G>A (p.Lys4184=)
c.12549G>A (p.Lys4183=)
c.12528G>A (p.Lys4176=)
c.12522G>A (p.Lys4174=)
c.12516G>A (p.Lys4172=)
c.12492G>A (p.Lys4164=)
c.12315G>A (p.Lys4105=)
c.12459G>A (p.Lys4153=)
c.12531G>A (p.Lys4177=)
 dbSNP ExAC
1g.237784210G>CCA345413479RYR2c.*3590G>C (n.*3590G>C)
c.12486G>C (p.Lys4162Asn)
c.12519G>C (p.Lys4173Asn)
c.4675G>C
c.12498G>C (p.Lys4166Asn)
c.2551G>C
c.12450G>C (p.Lys4150Asn)
n.3693G>C
c.12552G>C (p.Lys4184Asn)
c.12549G>C (p.Lys4183Asn)
c.12528G>C (p.Lys4176Asn)
c.12522G>C (p.Lys4174Asn)
c.12516G>C (p.Lys4172Asn)
c.12492G>C (p.Lys4164Asn)
c.12315G>C (p.Lys4105Asn)
c.12459G>C (p.Lys4153Asn)
c.12531G>C (p.Lys4177Asn)
1g.237784210G=CA2487482428RYR2c.*3590G= (n.*3590G=)
c.12486G= (p.Lys4162=)
c.12519G= (p.Lys4173=)
c.4675G=
c.12498G= (p.Lys4166=)
c.2551G=
c.12450G= (p.Lys4150=)
n.3693G=
c.12552G= (p.Lys4184=)
c.12549G= (p.Lys4183=)
c.12528G= (p.Lys4176=)
c.12522G= (p.Lys4174=)
c.12516G= (p.Lys4172=)
c.12492G= (p.Lys4164=)
c.12315G= (p.Lys4105=)
c.12459G= (p.Lys4153=)
c.12531G= (p.Lys4177=)
1g.237784210G>TCA345413478RYR2c.*3590G>T (n.*3590G>T)
c.12486G>T (p.Lys4162Asn)
c.12519G>T (p.Lys4173Asn)
c.4675G>T
c.12498G>T (p.Lys4166Asn)
c.2551G>T
c.12450G>T (p.Lys4150Asn)
n.3693G>T
c.12552G>T (p.Lys4184Asn)
c.12549G>T (p.Lys4183Asn)
c.12528G>T (p.Lys4176Asn)
c.12522G>T (p.Lys4174Asn)
c.12516G>T (p.Lys4172Asn)
c.12492G>T (p.Lys4164Asn)
c.12315G>T (p.Lys4105Asn)
c.12459G>T (p.Lys4153Asn)
c.12531G>T (p.Lys4177Asn)
1g.237784211G>ACA345413480RYR2c.*3591G>A (n.*3591G>A)
c.12487G>A (p.Glu4163Lys)
c.12520G>A (p.Glu4174Lys)
c.4676G>A
c.12499G>A (p.Glu4167Lys)
c.2552G>A
c.12451G>A (p.Glu4151Lys)
n.3694G>A
c.12553G>A (p.Glu4185Lys)
c.12550G>A (p.Glu4184Lys)
c.12529G>A (p.Glu4177Lys)
c.12523G>A (p.Glu4175Lys)
c.12517G>A (p.Glu4173Lys)
c.12493G>A (p.Glu4165Lys)
c.12316G>A (p.Glu4106Lys)
c.12460G>A (p.Glu4154Lys)
c.12532G>A (p.Glu4178Lys)
 ClinVar dbSNP COSMIC COSMIC
1g.237784211G>CCA345413482RYR2c.*3591G>C (n.*3591G>C)
c.12487G>C (p.Glu4163Gln)
c.12520G>C (p.Glu4174Gln)
c.4676G>C
c.12499G>C (p.Glu4167Gln)
c.2552G>C
c.12451G>C (p.Glu4151Gln)
n.3694G>C
c.12553G>C (p.Glu4185Gln)
c.12550G>C (p.Glu4184Gln)
c.12529G>C (p.Glu4177Gln)
c.12523G>C (p.Glu4175Gln)
c.12517G>C (p.Glu4173Gln)
c.12493G>C (p.Glu4165Gln)
c.12316G>C (p.Glu4106Gln)
c.12460G>C (p.Glu4154Gln)
c.12532G>C (p.Glu4178Gln)
1g.237784211G=CA2487482429RYR2c.*3591G= (n.*3591G=)
c.12487G= (p.Glu4163=)
c.12520G= (p.Glu4174=)
c.4676G=
c.12499G= (p.Glu4167=)
c.2552G=
c.12451G= (p.Glu4151=)
n.3694G=
c.12553G= (p.Glu4185=)
c.12550G= (p.Glu4184=)
c.12529G= (p.Glu4177=)
c.12523G= (p.Glu4175=)
c.12517G= (p.Glu4173=)
c.12493G= (p.Glu4165=)
c.12316G= (p.Glu4106=)
c.12460G= (p.Glu4154=)
c.12532G= (p.Glu4178=)
1g.237784211G>TCA345413481RYR2c.*3591G>T (n.*3591G>T)
c.12487G>T (p.Glu4163Ter)
c.12520G>T (p.Glu4174Ter)
c.4676G>T
c.12499G>T (p.Glu4167Ter)
c.2552G>T
c.12451G>T (p.Glu4151Ter)
n.3694G>T
c.12553G>T (p.Glu4185Ter)
c.12550G>T (p.Glu4184Ter)
c.12529G>T (p.Glu4177Ter)
c.12523G>T (p.Glu4175Ter)
c.12517G>T (p.Glu4173Ter)
c.12493G>T (p.Glu4165Ter)
c.12316G>T (p.Glu4106Ter)
c.12460G>T (p.Glu4154Ter)
c.12532G>T (p.Glu4178Ter)
 gnomAD v4
1g.237784212A>CCA345413483RYR2c.*3592A>C (n.*3592A>C)
c.12488A>C (p.Glu4163Ala)
c.12521A>C (p.Glu4174Ala)
c.4677A>C
c.12500A>C (p.Glu4167Ala)
c.2553A>C
c.12452A>C (p.Glu4151Ala)
n.3695A>C
c.12554A>C (p.Glu4185Ala)
c.12551A>C (p.Glu4184Ala)
c.12530A>C (p.Glu4177Ala)
c.12524A>C (p.Glu4175Ala)
c.12518A>C (p.Glu4173Ala)
c.12494A>C (p.Glu4165Ala)
c.12317A>C (p.Glu4106Ala)
c.12461A>C (p.Glu4154Ala)
c.12533A>C (p.Glu4178Ala)
1g.237784212A>GCA345413484RYR2c.*3592A>G (n.*3592A>G)
c.12488A>G (p.Glu4163Gly)
c.12521A>G (p.Glu4174Gly)
c.4677A>G
c.12500A>G (p.Glu4167Gly)
c.2553A>G
c.12452A>G (p.Glu4151Gly)
n.3695A>G
c.12554A>G (p.Glu4185Gly)
c.12551A>G (p.Glu4184Gly)
c.12530A>G (p.Glu4177Gly)
c.12524A>G (p.Glu4175Gly)
c.12518A>G (p.Glu4173Gly)
c.12494A>G (p.Glu4165Gly)
c.12317A>G (p.Glu4106Gly)
c.12461A>G (p.Glu4154Gly)
c.12533A>G (p.Glu4178Gly)
1g.237784212A>TCA345413485RYR2c.*3592A>T (n.*3592A>T)
c.12488A>T (p.Glu4163Val)
c.12521A>T (p.Glu4174Val)
c.4677A>T
c.12500A>T (p.Glu4167Val)
c.2553A>T
c.12452A>T (p.Glu4151Val)
n.3695A>T
c.12554A>T (p.Glu4185Val)
c.12551A>T (p.Glu4184Val)
c.12530A>T (p.Glu4177Val)
c.12524A>T (p.Glu4175Val)
c.12518A>T (p.Glu4173Val)
c.12494A>T (p.Glu4165Val)
c.12317A>T (p.Glu4106Val)
c.12461A>T (p.Glu4154Val)
c.12533A>T (p.Glu4178Val)
1g.237784213G>ACA424032265RYR2c.*3593G>A (n.*3593G>A)
c.12489G>A (p.Glu4163=)
c.12522G>A (p.Glu4174=)
c.4678G>A
c.12501G>A (p.Glu4167=)
c.2554G>A
c.12453G>A (p.Glu4151=)
n.3696G>A
c.12555G>A (p.Glu4185=)
c.12552G>A (p.Glu4184=)
c.12531G>A (p.Glu4177=)
c.12525G>A (p.Glu4175=)
c.12519G>A (p.Glu4173=)
c.12495G>A (p.Glu4165=)
c.12318G>A (p.Glu4106=)
c.12462G>A (p.Glu4154=)
c.12534G>A (p.Glu4178=)
 gnomAD v4
1g.237784213G>CCA345413486RYR2c.*3593G>C (n.*3593G>C)
c.12489G>C (p.Glu4163Asp)
c.12522G>C (p.Glu4174Asp)
c.4678G>C
c.12501G>C (p.Glu4167Asp)
c.2554G>C
c.12453G>C (p.Glu4151Asp)
n.3696G>C
c.12555G>C (p.Glu4185Asp)
c.12552G>C (p.Glu4184Asp)
c.12531G>C (p.Glu4177Asp)
c.12525G>C (p.Glu4175Asp)
c.12519G>C (p.Glu4173Asp)
c.12495G>C (p.Glu4165Asp)
c.12318G>C (p.Glu4106Asp)
c.12462G>C (p.Glu4154Asp)
c.12534G>C (p.Glu4178Asp)
1g.237784213G>TCA345413487RYR2c.*3593G>T (n.*3593G>T)
c.12489G>T (p.Glu4163Asp)
c.12522G>T (p.Glu4174Asp)
c.4678G>T
c.12501G>T (p.Glu4167Asp)
c.2554G>T
c.12453G>T (p.Glu4151Asp)
n.3696G>T
c.12555G>T (p.Glu4185Asp)
c.12552G>T (p.Glu4184Asp)
c.12531G>T (p.Glu4177Asp)
c.12525G>T (p.Glu4175Asp)
c.12519G>T (p.Glu4173Asp)
c.12495G>T (p.Glu4165Asp)
c.12318G>T (p.Glu4106Asp)
c.12462G>T (p.Glu4154Asp)
c.12534G>T (p.Glu4178Asp)
1g.237784214T>ACA345413488RYR2c.*3594T>A (n.*3594T>A)
c.12490T>A (p.Ser4164Thr)
c.12523T>A (p.Ser4175Thr)
c.4679T>A
c.12502T>A (p.Ser4168Thr)
c.2555T>A
c.12454T>A (p.Ser4152Thr)
n.3697T>A
c.12556T>A (p.Ser4186Thr)
c.12553T>A (p.Ser4185Thr)
c.12532T>A (p.Ser4178Thr)
c.12526T>A (p.Ser4176Thr)
c.12520T>A (p.Ser4174Thr)
c.12496T>A (p.Ser4166Thr)
c.12319T>A (p.Ser4107Thr)
c.12463T>A (p.Ser4155Thr)
c.12535T>A (p.Ser4179Thr)
1g.237784214T>CCA345413489RYR2c.*3594T>C (n.*3594T>C)
c.12490T>C (p.Ser4164Pro)
c.12523T>C (p.Ser4175Pro)
c.4679T>C
c.12502T>C (p.Ser4168Pro)
c.2555T>C
c.12454T>C (p.Ser4152Pro)
n.3697T>C
c.12556T>C (p.Ser4186Pro)
c.12553T>C (p.Ser4185Pro)
c.12532T>C (p.Ser4178Pro)
c.12526T>C (p.Ser4176Pro)
c.12520T>C (p.Ser4174Pro)
c.12496T>C (p.Ser4166Pro)
c.12319T>C (p.Ser4107Pro)
c.12463T>C (p.Ser4155Pro)
c.12535T>C (p.Ser4179Pro)
1g.237784214T>GCA345413490RYR2c.*3594T>G (n.*3594T>G)
c.12490T>G (p.Ser4164Ala)
c.12523T>G (p.Ser4175Ala)
c.4679T>G
c.12502T>G (p.Ser4168Ala)
c.2555T>G
c.12454T>G (p.Ser4152Ala)
n.3697T>G
c.12556T>G (p.Ser4186Ala)
c.12553T>G (p.Ser4185Ala)
c.12532T>G (p.Ser4178Ala)
c.12526T>G (p.Ser4176Ala)
c.12520T>G (p.Ser4174Ala)
c.12496T>G (p.Ser4166Ala)
c.12319T>G (p.Ser4107Ala)
c.12463T>G (p.Ser4155Ala)
c.12535T>G (p.Ser4179Ala)
1g.237784215C>ACA345413491RYR2c.*3595C>A (n.*3595C>A)
c.12491C>A (p.Ser4164Tyr)
c.12524C>A (p.Ser4175Tyr)
c.4680C>A
c.12503C>A (p.Ser4168Tyr)
c.2556C>A
c.12455C>A (p.Ser4152Tyr)
n.3698C>A
c.12557C>A (p.Ser4186Tyr)
c.12554C>A (p.Ser4185Tyr)
c.12533C>A (p.Ser4178Tyr)
c.12527C>A (p.Ser4176Tyr)
c.12521C>A (p.Ser4174Tyr)
c.12497C>A (p.Ser4166Tyr)
c.12320C>A (p.Ser4107Tyr)
c.12464C>A (p.Ser4155Tyr)
c.12536C>A (p.Ser4179Tyr)
 COSMIC
1g.237784215C>GCA345413492RYR2c.*3595C>G (n.*3595C>G)
c.12491C>G (p.Ser4164Cys)
c.12524C>G (p.Ser4175Cys)
c.4680C>G
c.12503C>G (p.Ser4168Cys)
c.2556C>G
c.12455C>G (p.Ser4152Cys)
n.3698C>G
c.12557C>G (p.Ser4186Cys)
c.12554C>G (p.Ser4185Cys)
c.12533C>G (p.Ser4178Cys)
c.12527C>G (p.Ser4176Cys)
c.12521C>G (p.Ser4174Cys)
c.12497C>G (p.Ser4166Cys)
c.12320C>G (p.Ser4107Cys)
c.12464C>G (p.Ser4155Cys)
c.12536C>G (p.Ser4179Cys)
1g.237784215C>TCA345413493RYR2c.*3595C>T (n.*3595C>T)
c.12491C>T (p.Ser4164Phe)
c.12524C>T (p.Ser4175Phe)
c.4680C>T
c.12503C>T (p.Ser4168Phe)
c.2556C>T
c.12455C>T (p.Ser4152Phe)
n.3698C>T
c.12557C>T (p.Ser4186Phe)
c.12554C>T (p.Ser4185Phe)
c.12533C>T (p.Ser4178Phe)
c.12527C>T (p.Ser4176Phe)
c.12521C>T (p.Ser4174Phe)
c.12497C>T (p.Ser4166Phe)
c.12320C>T (p.Ser4107Phe)
c.12464C>T (p.Ser4155Phe)
c.12536C>T (p.Ser4179Phe)
1g.237784216C>ACA424032269RYR2c.*3596C>A (n.*3596C>A)
c.12492C>A (p.Ser4164=)
c.12525C>A (p.Ser4175=)
c.4681C>A
c.12504C>A (p.Ser4168=)
c.2557C>A
c.12456C>A (p.Ser4152=)
n.3699C>A
c.12558C>A (p.Ser4186=)
c.12555C>A (p.Ser4185=)
c.12534C>A (p.Ser4178=)
c.12528C>A (p.Ser4176=)
c.12522C>A (p.Ser4174=)
c.12498C>A (p.Ser4166=)
c.12321C>A (p.Ser4107=)
c.12465C>A (p.Ser4155=)
c.12537C>A (p.Ser4179=)
1g.237784216C=CA2487482430RYR2c.*3596C= (n.*3596C=)
c.12492C= (p.Ser4164=)
c.12525C= (p.Ser4175=)
c.4681C=
c.12504C= (p.Ser4168=)
c.2557C=
c.12456C= (p.Ser4152=)
n.3699C=
c.12558C= (p.Ser4186=)
c.12555C= (p.Ser4185=)
c.12534C= (p.Ser4178=)
c.12528C= (p.Ser4176=)
c.12522C= (p.Ser4174=)
c.12498C= (p.Ser4166=)
c.12321C= (p.Ser4107=)
c.12465C= (p.Ser4155=)
c.12537C= (p.Ser4179=)
1g.237784216C>GCA424032270RYR2c.*3596C>G (n.*3596C>G)
c.12492C>G (p.Ser4164=)
c.12525C>G (p.Ser4175=)
c.4681C>G
c.12504C>G (p.Ser4168=)
c.2557C>G
c.12456C>G (p.Ser4152=)
n.3699C>G
c.12558C>G (p.Ser4186=)
c.12555C>G (p.Ser4185=)
c.12534C>G (p.Ser4178=)
c.12528C>G (p.Ser4176=)
c.12522C>G (p.Ser4174=)
c.12498C>G (p.Ser4166=)
c.12321C>G (p.Ser4107=)
c.12465C>G (p.Ser4155=)
c.12537C>G (p.Ser4179=)
1g.237784216C>TCA085192RYR2c.*3596C>T (n.*3596C>T)
c.12492C>T (p.Ser4164=)
c.12525C>T (p.Ser4175=)
c.4681C>T
c.12504C>T (p.Ser4168=)
c.2557C>T
c.12456C>T (p.Ser4152=)
n.3699C>T
c.12558C>T (p.Ser4186=)
c.12555C>T (p.Ser4185=)
c.12534C>T (p.Ser4178=)
c.12528C>T (p.Ser4176=)
c.12522C>T (p.Ser4174=)
c.12498C>T (p.Ser4166=)
c.12321C>T (p.Ser4107=)
c.12465C>T (p.Ser4155=)
c.12537C>T (p.Ser4179=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.237784217A>CCA345413494RYR2c.*3597A>C (n.*3597A>C)
c.12493A>C (p.Lys4165Gln)
c.12526A>C (p.Lys4176Gln)
c.4682A>C
c.12505A>C (p.Lys4169Gln)
c.2558A>C
c.12457A>C (p.Lys4153Gln)
n.3700A>C
c.12559A>C (p.Lys4187Gln)
c.12556A>C (p.Lys4186Gln)
c.12535A>C (p.Lys4179Gln)
c.12529A>C (p.Lys4177Gln)
c.12523A>C (p.Lys4175Gln)
c.12499A>C (p.Lys4167Gln)
c.12322A>C (p.Lys4108Gln)
c.12466A>C (p.Lys4156Gln)
c.12538A>C (p.Lys4180Gln)
1g.237784217A>GCA345413496RYR2c.*3597A>G (n.*3597A>G)
c.12493A>G (p.Lys4165Glu)
c.12526A>G (p.Lys4176Glu)
c.4682A>G
c.12505A>G (p.Lys4169Glu)
c.2558A>G
c.12457A>G (p.Lys4153Glu)
n.3700A>G
c.12559A>G (p.Lys4187Glu)
c.12556A>G (p.Lys4186Glu)
c.12535A>G (p.Lys4179Glu)
c.12529A>G (p.Lys4177Glu)
c.12523A>G (p.Lys4175Glu)
c.12499A>G (p.Lys4167Glu)
c.12322A>G (p.Lys4108Glu)
c.12466A>G (p.Lys4156Glu)
c.12538A>G (p.Lys4180Glu)
1g.237784217A>TCA345413495RYR2c.*3597A>T (n.*3597A>T)
c.12493A>T (p.Lys4165Ter)
c.12526A>T (p.Lys4176Ter)
c.4682A>T
c.12505A>T (p.Lys4169Ter)
c.2558A>T
c.12457A>T (p.Lys4153Ter)
n.3700A>T
c.12559A>T (p.Lys4187Ter)
c.12556A>T (p.Lys4186Ter)
c.12535A>T (p.Lys4179Ter)
c.12529A>T (p.Lys4177Ter)
c.12523A>T (p.Lys4175Ter)
c.12499A>T (p.Lys4167Ter)
c.12322A>T (p.Lys4108Ter)
c.12466A>T (p.Lys4156Ter)
c.12538A>T (p.Lys4180Ter)
1g.237784218A>CCA345413497RYR2c.*3598A>C (n.*3598A>C)
c.12494A>C (p.Lys4165Thr)
c.12527A>C (p.Lys4176Thr)
c.4683A>C
c.12506A>C (p.Lys4169Thr)
c.2559A>C
c.12458A>C (p.Lys4153Thr)
n.3701A>C
c.12560A>C (p.Lys4187Thr)
c.12557A>C (p.Lys4186Thr)
c.12536A>C (p.Lys4179Thr)
c.12530A>C (p.Lys4177Thr)
c.12524A>C (p.Lys4175Thr)
c.12500A>C (p.Lys4167Thr)
c.12323A>C (p.Lys4108Thr)
c.12467A>C (p.Lys4156Thr)
c.12539A>C (p.Lys4180Thr)
1g.237784218A>GCA345413498RYR2c.*3598A>G (n.*3598A>G)
c.12494A>G (p.Lys4165Arg)
c.12527A>G (p.Lys4176Arg)
c.4683A>G
c.12506A>G (p.Lys4169Arg)
c.2559A>G
c.12458A>G (p.Lys4153Arg)
n.3701A>G
c.12560A>G (p.Lys4187Arg)
c.12557A>G (p.Lys4186Arg)
c.12536A>G (p.Lys4179Arg)
c.12530A>G (p.Lys4177Arg)
c.12524A>G (p.Lys4175Arg)
c.12500A>G (p.Lys4167Arg)
c.12323A>G (p.Lys4108Arg)
c.12467A>G (p.Lys4156Arg)
c.12539A>G (p.Lys4180Arg)
1g.237784218A>TCA345413499RYR2c.*3598A>T (n.*3598A>T)
c.12494A>T (p.Lys4165Ile)
c.12527A>T (p.Lys4176Ile)
c.4683A>T
c.12506A>T (p.Lys4169Ile)
c.2559A>T
c.12458A>T (p.Lys4153Ile)
n.3701A>T
c.12560A>T (p.Lys4187Ile)
c.12557A>T (p.Lys4186Ile)
c.12536A>T (p.Lys4179Ile)
c.12530A>T (p.Lys4177Ile)
c.12524A>T (p.Lys4175Ile)
c.12500A>T (p.Lys4167Ile)
c.12323A>T (p.Lys4108Ile)
c.12467A>T (p.Lys4156Ile)
c.12539A>T (p.Lys4180Ile)
1g.237784219A=CA2487482431RYR2c.*3599A= (n.*3599A=)
c.12495A= (p.Lys4165=)
c.12528A= (p.Lys4176=)
c.4684A=
c.12507A= (p.Lys4169=)
c.2560A=
c.12459A= (p.Lys4153=)
n.3702A=
c.12561A= (p.Lys4187=)
c.12558A= (p.Lys4186=)
c.12537A= (p.Lys4179=)
c.12531A= (p.Lys4177=)
c.12525A= (p.Lys4175=)
c.12501A= (p.Lys4167=)
c.12324A= (p.Lys4108=)
c.12468A= (p.Lys4156=)
c.12540A= (p.Lys4180=)
1g.237784219A>CCA345413500RYR2c.*3599A>C (n.*3599A>C)
c.12495A>C (p.Lys4165Asn)
c.12528A>C (p.Lys4176Asn)
c.4684A>C
c.12507A>C (p.Lys4169Asn)
c.2560A>C
c.12459A>C (p.Lys4153Asn)
n.3702A>C
c.12561A>C (p.Lys4187Asn)
c.12558A>C (p.Lys4186Asn)
c.12537A>C (p.Lys4179Asn)
c.12531A>C (p.Lys4177Asn)
c.12525A>C (p.Lys4175Asn)
c.12501A>C (p.Lys4167Asn)
c.12324A>C (p.Lys4108Asn)
c.12468A>C (p.Lys4156Asn)
c.12540A>C (p.Lys4180Asn)
1g.237784219A>GCA424032274RYR2c.*3599A>G (n.*3599A>G)
c.12495A>G (p.Lys4165=)
c.12528A>G (p.Lys4176=)
c.4684A>G
c.12507A>G (p.Lys4169=)
c.2560A>G
c.12459A>G (p.Lys4153=)
n.3702A>G
c.12561A>G (p.Lys4187=)
c.12558A>G (p.Lys4186=)
c.12537A>G (p.Lys4179=)
c.12531A>G (p.Lys4177=)
c.12525A>G (p.Lys4175=)
c.12501A>G (p.Lys4167=)
c.12324A>G (p.Lys4108=)
c.12468A>G (p.Lys4156=)
c.12540A>G (p.Lys4180=)
1g.237784219A>TCA345413501RYR2c.*3599A>T (n.*3599A>T)
c.12495A>T (p.Lys4165Asn)
c.12528A>T (p.Lys4176Asn)
c.4684A>T
c.12507A>T (p.Lys4169Asn)
c.2560A>T
c.12459A>T (p.Lys4153Asn)
n.3702A>T
c.12561A>T (p.Lys4187Asn)
c.12558A>T (p.Lys4186Asn)
c.12537A>T (p.Lys4179Asn)
c.12531A>T (p.Lys4177Asn)
c.12525A>T (p.Lys4175Asn)
c.12501A>T (p.Lys4167Asn)
c.12324A>T (p.Lys4108Asn)
c.12468A>T (p.Lys4156Asn)
c.12540A>T (p.Lys4180Asn)
1g.237784220A=CA2487482432RYR2c.*3600A= (n.*3600A=)
c.12496A= (p.Arg4166=)
c.12529A= (p.Arg4177=)
c.4685A=
c.12508A= (p.Arg4170=)
c.2561A=
c.12460A= (p.Arg4154=)
n.3703A=
c.12562A= (p.Arg4188=)
c.12559A= (p.Arg4187=)
c.12538A= (p.Arg4180=)
c.12532A= (p.Arg4178=)
c.12526A= (p.Arg4176=)
c.12502A= (p.Arg4168=)
c.12325A= (p.Arg4109=)
c.12469A= (p.Arg4157=)
c.12541A= (p.Arg4181=)
1g.237784220A>CCA424032275RYR2c.*3600A>C (n.*3600A>C)
c.12496A>C (p.Arg4166=)
c.12529A>C (p.Arg4177=)
c.4685A>C
c.12508A>C (p.Arg4170=)
c.2561A>C
c.12460A>C (p.Arg4154=)
n.3703A>C
c.12562A>C (p.Arg4188=)
c.12559A>C (p.Arg4187=)
c.12538A>C (p.Arg4180=)
c.12532A>C (p.Arg4178=)
c.12526A>C (p.Arg4176=)
c.12502A>C (p.Arg4168=)
c.12325A>C (p.Arg4109=)
c.12469A>C (p.Arg4157=)
c.12541A>C (p.Arg4181=)
1g.237784220A>GCA345413502RYR2c.*3600A>G (n.*3600A>G)
c.12496A>G (p.Arg4166Gly)
c.12529A>G (p.Arg4177Gly)
c.4685A>G
c.12508A>G (p.Arg4170Gly)
c.2561A>G
c.12460A>G (p.Arg4154Gly)
n.3703A>G
c.12562A>G (p.Arg4188Gly)
c.12559A>G (p.Arg4187Gly)
c.12538A>G (p.Arg4180Gly)
c.12532A>G (p.Arg4178Gly)
c.12526A>G (p.Arg4176Gly)
c.12502A>G (p.Arg4168Gly)
c.12325A>G (p.Arg4109Gly)
c.12469A>G (p.Arg4157Gly)
c.12541A>G (p.Arg4181Gly)
 dbSNP
1g.237784220A>TCA345413503RYR2c.*3600A>T (n.*3600A>T)
c.12496A>T (p.Arg4166Ter)
c.12529A>T (p.Arg4177Ter)
c.4685A>T
c.12508A>T (p.Arg4170Ter)
c.2561A>T
c.12460A>T (p.Arg4154Ter)
n.3703A>T
c.12562A>T (p.Arg4188Ter)
c.12559A>T (p.Arg4187Ter)
c.12538A>T (p.Arg4180Ter)
c.12532A>T (p.Arg4178Ter)
c.12526A>T (p.Arg4176Ter)
c.12502A>T (p.Arg4168Ter)
c.12325A>T (p.Arg4109Ter)
c.12469A>T (p.Arg4157Ter)
c.12541A>T (p.Arg4181Ter)
1g.237784222_237784225dupCA658655635RYR2c.*3602_*3605dup (n.*3602_*3605dup)
c.12498_12501dup (p.Phe4168ThrfsTer5)
c.12531_12534dup (p.Phe4179ThrfsTer5)
c.4687_4690dup
c.12510_12513dup (p.Phe4172ThrfsTer5)
c.2563_2566dup
c.12462_12465dup (p.Phe4156ThrfsTer5)
n.3705_3708dup
c.12564_12567dup (p.Phe4190ThrfsTer5)
c.12561_12564dup (p.Phe4189ThrfsTer5)
c.12540_12543dup (p.Phe4182ThrfsTer5)
c.12534_12537dup (p.Phe4180ThrfsTer5)
c.12528_12531dup (p.Phe4178ThrfsTer5)
c.12504_12507dup (p.Phe4170ThrfsTer5)
c.12327_12330dup (p.Phe4111ThrfsTer5)
c.12471_12474dup (p.Phe4159ThrfsTer5)
c.12543_12546dup (p.Phe4183ThrfsTer5)
 ClinVar dbSNP
1g.237784221G>ACA345413504RYR2c.*3601G>A (n.*3601G>A)
c.12497G>A (p.Arg4166Lys)
c.12530G>A (p.Arg4177Lys)
c.4686G>A
c.12509G>A (p.Arg4170Lys)
c.2562G>A
c.12461G>A (p.Arg4154Lys)
n.3704G>A
c.12563G>A (p.Arg4188Lys)
c.12560G>A (p.Arg4187Lys)
c.12539G>A (p.Arg4180Lys)
c.12533G>A (p.Arg4178Lys)
c.12527G>A (p.Arg4176Lys)
c.12503G>A (p.Arg4168Lys)
c.12326G>A (p.Arg4109Lys)
c.12470G>A (p.Arg4157Lys)
c.12542G>A (p.Arg4181Lys)
1g.237784221G>CCA345413505RYR2c.*3601G>C (n.*3601G>C)
c.12497G>C (p.Arg4166Thr)
c.12530G>C (p.Arg4177Thr)
c.4686G>C
c.12509G>C (p.Arg4170Thr)
c.2562G>C
c.12461G>C (p.Arg4154Thr)
n.3704G>C
c.12563G>C (p.Arg4188Thr)
c.12560G>C (p.Arg4187Thr)
c.12539G>C (p.Arg4180Thr)
c.12533G>C (p.Arg4178Thr)
c.12527G>C (p.Arg4176Thr)
c.12503G>C (p.Arg4168Thr)
c.12326G>C (p.Arg4109Thr)
c.12470G>C (p.Arg4157Thr)
c.12542G>C (p.Arg4181Thr)
1g.237784221G>TCA345413506RYR2c.*3601G>T (n.*3601G>T)
c.12497G>T (p.Arg4166Ile)
c.12530G>T (p.Arg4177Ile)
c.4686G>T
c.12509G>T (p.Arg4170Ile)
c.2562G>T
c.12461G>T (p.Arg4154Ile)
n.3704G>T
c.12563G>T (p.Arg4188Ile)
c.12560G>T (p.Arg4187Ile)
c.12539G>T (p.Arg4180Ile)
c.12533G>T (p.Arg4178Ile)
c.12527G>T (p.Arg4176Ile)
c.12503G>T (p.Arg4168Ile)
c.12326G>T (p.Arg4109Ile)
c.12470G>T (p.Arg4157Ile)
c.12542G>T (p.Arg4181Ile)
1g.237784222A=CA2487482433RYR2c.*3602A= (n.*3602A=)
c.12498A= (p.Arg4166=)
c.12531A= (p.Arg4177=)
c.4687A=
c.12510A= (p.Arg4170=)
c.2563A=
c.12462A= (p.Arg4154=)
n.3705A=
c.12564A= (p.Arg4188=)
c.12561A= (p.Arg4187=)
c.12540A= (p.Arg4180=)
c.12534A= (p.Arg4178=)
c.12528A= (p.Arg4176=)
c.12504A= (p.Arg4168=)
c.12327A= (p.Arg4109=)
c.12471A= (p.Arg4157=)
c.12543A= (p.Arg4181=)
1g.237784222A>CCA345413508RYR2c.*3602A>C (n.*3602A>C)
c.12498A>C (p.Arg4166Ser)
c.12531A>C (p.Arg4177Ser)
c.4687A>C
c.12510A>C (p.Arg4170Ser)
c.2563A>C
c.12462A>C (p.Arg4154Ser)
n.3705A>C
c.12564A>C (p.Arg4188Ser)
c.12561A>C (p.Arg4187Ser)
c.12540A>C (p.Arg4180Ser)
c.12534A>C (p.Arg4178Ser)
c.12528A>C (p.Arg4176Ser)
c.12504A>C (p.Arg4168Ser)
c.12327A>C (p.Arg4109Ser)
c.12471A>C (p.Arg4157Ser)
c.12543A>C (p.Arg4181Ser)
1g.237784222A>GCA424032279RYR2c.*3602A>G (n.*3602A>G)
c.12498A>G (p.Arg4166=)
c.12531A>G (p.Arg4177=)
c.4687A>G
c.12510A>G (p.Arg4170=)
c.2563A>G
c.12462A>G (p.Arg4154=)
n.3705A>G
c.12564A>G (p.Arg4188=)
c.12561A>G (p.Arg4187=)
c.12540A>G (p.Arg4180=)
c.12534A>G (p.Arg4178=)
c.12528A>G (p.Arg4176=)
c.12504A>G (p.Arg4168=)
c.12327A>G (p.Arg4109=)
c.12471A>G (p.Arg4157=)
c.12543A>G (p.Arg4181=)
1g.237784222A>TCA345413507RYR2c.*3602A>T (n.*3602A>T)
c.12498A>T (p.Arg4166Ser)
c.12531A>T (p.Arg4177Ser)
c.4687A>T
c.12510A>T (p.Arg4170Ser)
c.2563A>T
c.12462A>T (p.Arg4154Ser)
n.3705A>T
c.12564A>T (p.Arg4188Ser)
c.12561A>T (p.Arg4187Ser)
c.12540A>T (p.Arg4180Ser)
c.12534A>T (p.Arg4178Ser)
c.12528A>T (p.Arg4176Ser)
c.12504A>T (p.Arg4168Ser)
c.12327A>T (p.Arg4109Ser)
c.12471A>T (p.Arg4157Ser)
c.12543A>T (p.Arg4181Ser)
 ClinVar dbSNP
1g.237784223C>ACA345413509RYR2c.*3603C>A (n.*3603C>A)
c.12499C>A (p.Gln4167Lys)
c.12532C>A (p.Gln4178Lys)
c.4688C>A
c.12511C>A (p.Gln4171Lys)
c.2564C>A
c.12463C>A (p.Gln4155Lys)
n.3706C>A
c.12565C>A (p.Gln4189Lys)
c.12562C>A (p.Gln4188Lys)
c.12541C>A (p.Gln4181Lys)
c.12535C>A (p.Gln4179Lys)
c.12529C>A (p.Gln4177Lys)
c.12505C>A (p.Gln4169Lys)
c.12328C>A (p.Gln4110Lys)
c.12472C>A (p.Gln4158Lys)
c.12544C>A (p.Gln4182Lys)
1g.237784223C>GCA345413510RYR2c.*3603C>G (n.*3603C>G)
c.12499C>G (p.Gln4167Glu)
c.12532C>G (p.Gln4178Glu)
c.4688C>G
c.12511C>G (p.Gln4171Glu)
c.2564C>G
c.12463C>G (p.Gln4155Glu)
n.3706C>G
c.12565C>G (p.Gln4189Glu)
c.12562C>G (p.Gln4188Glu)
c.12541C>G (p.Gln4181Glu)
c.12535C>G (p.Gln4179Glu)
c.12529C>G (p.Gln4177Glu)
c.12505C>G (p.Gln4169Glu)
c.12328C>G (p.Gln4110Glu)
c.12472C>G (p.Gln4158Glu)
c.12544C>G (p.Gln4182Glu)
 ClinVar
1g.237784223C>TCA345413511RYR2c.*3603C>T (n.*3603C>T)
c.12499C>T (p.Gln4167Ter)
c.12532C>T (p.Gln4178Ter)
c.4688C>T
c.12511C>T (p.Gln4171Ter)
c.2564C>T
c.12463C>T (p.Gln4155Ter)
n.3706C>T
c.12565C>T (p.Gln4189Ter)
c.12562C>T (p.Gln4188Ter)
c.12541C>T (p.Gln4181Ter)
c.12535C>T (p.Gln4179Ter)
c.12529C>T (p.Gln4177Ter)
c.12505C>T (p.Gln4169Ter)
c.12328C>T (p.Gln4110Ter)
c.12472C>T (p.Gln4158Ter)
c.12544C>T (p.Gln4182Ter)
1g.237784224A>CCA345413512RYR2c.*3604A>C (n.*3604A>C)
c.12500A>C (p.Gln4167Pro)
c.12533A>C (p.Gln4178Pro)
c.4689A>C
c.12512A>C (p.Gln4171Pro)
c.2565A>C
c.12464A>C (p.Gln4155Pro)
n.3707A>C
c.12566A>C (p.Gln4189Pro)
c.12563A>C (p.Gln4188Pro)
c.12542A>C (p.Gln4181Pro)
c.12536A>C (p.Gln4179Pro)
c.12530A>C (p.Gln4177Pro)
c.12506A>C (p.Gln4169Pro)
c.12329A>C (p.Gln4110Pro)
c.12473A>C (p.Gln4158Pro)
c.12545A>C (p.Gln4182Pro)
1g.237784224A>GCA345413513RYR2c.*3604A>G (n.*3604A>G)
c.12500A>G (p.Gln4167Arg)
c.12533A>G (p.Gln4178Arg)
c.4689A>G
c.12512A>G (p.Gln4171Arg)
c.2565A>G
c.12464A>G (p.Gln4155Arg)
n.3707A>G
c.12566A>G (p.Gln4189Arg)
c.12563A>G (p.Gln4188Arg)
c.12542A>G (p.Gln4181Arg)
c.12536A>G (p.Gln4179Arg)
c.12530A>G (p.Gln4177Arg)
c.12506A>G (p.Gln4169Arg)
c.12329A>G (p.Gln4110Arg)
c.12473A>G (p.Gln4158Arg)
c.12545A>G (p.Gln4182Arg)
1g.237784224A>TCA345413514RYR2c.*3604A>T (n.*3604A>T)
c.12500A>T (p.Gln4167Leu)
c.12533A>T (p.Gln4178Leu)
c.4689A>T
c.12512A>T (p.Gln4171Leu)
c.2565A>T
c.12464A>T (p.Gln4155Leu)
n.3707A>T
c.12566A>T (p.Gln4189Leu)
c.12563A>T (p.Gln4188Leu)
c.12542A>T (p.Gln4181Leu)
c.12536A>T (p.Gln4179Leu)
c.12530A>T (p.Gln4177Leu)
c.12506A>T (p.Gln4169Leu)
c.12329A>T (p.Gln4110Leu)
c.12473A>T (p.Gln4158Leu)
c.12545A>T (p.Gln4182Leu)
1g.237784225G>ACA424032280RYR2c.*3605G>A (n.*3605G>A)
c.12501G>A (p.Gln4167=)
c.12534G>A (p.Gln4178=)
c.4690G>A
c.12513G>A (p.Gln4171=)
c.2566G>A
c.12465G>A (p.Gln4155=)
n.3708G>A
c.12567G>A (p.Gln4189=)
c.12564G>A (p.Gln4188=)
c.12543G>A (p.Gln4181=)
c.12537G>A (p.Gln4179=)
c.12531G>A (p.Gln4177=)
c.12507G>A (p.Gln4169=)
c.12330G>A (p.Gln4110=)
c.12474G>A (p.Gln4158=)
c.12546G>A (p.Gln4182=)
1g.237784225G>CCA345413515RYR2c.*3605G>C (n.*3605G>C)
c.12501G>C (p.Gln4167His)
c.12534G>C (p.Gln4178His)
c.4690G>C
c.12513G>C (p.Gln4171His)
c.2566G>C
c.12465G>C (p.Gln4155His)
n.3708G>C
c.12567G>C (p.Gln4189His)
c.12564G>C (p.Gln4188His)
c.12543G>C (p.Gln4181His)
c.12537G>C (p.Gln4179His)
c.12531G>C (p.Gln4177His)
c.12507G>C (p.Gln4169His)
c.12330G>C (p.Gln4110His)
c.12474G>C (p.Gln4158His)
c.12546G>C (p.Gln4182His)
1g.237784225G>TCA345413516RYR2c.*3605G>T (n.*3605G>T)
c.12501G>T (p.Gln4167His)
c.12534G>T (p.Gln4178His)
c.4690G>T
c.12513G>T (p.Gln4171His)
c.2566G>T
c.12465G>T (p.Gln4155His)
n.3708G>T
c.12567G>T (p.Gln4189His)
c.12564G>T (p.Gln4188His)
c.12543G>T (p.Gln4181His)
c.12537G>T (p.Gln4179His)
c.12531G>T (p.Gln4177His)
c.12507G>T (p.Gln4169His)
c.12330G>T (p.Gln4110His)
c.12474G>T (p.Gln4158His)
c.12546G>T (p.Gln4182His)
1g.237784226T>ACA345413517RYR2c.*3606T>A (n.*3606T>A)
c.12502T>A (p.Phe4168Ile)
c.12535T>A (p.Phe4179Ile)
c.4691T>A
c.12514T>A (p.Phe4172Ile)
c.2567T>A
c.12466T>A (p.Phe4156Ile)
n.3709T>A
c.12568T>A (p.Phe4190Ile)
c.12565T>A (p.Phe4189Ile)
c.12544T>A (p.Phe4182Ile)
c.12538T>A (p.Phe4180Ile)
c.12532T>A (p.Phe4178Ile)
c.12508T>A (p.Phe4170Ile)
c.12331T>A (p.Phe4111Ile)
c.12475T>A (p.Phe4159Ile)
c.12547T>A (p.Phe4183Ile)
1g.237784226T>CCA345413518RYR2c.*3606T>C (n.*3606T>C)
c.12502T>C (p.Phe4168Leu)
c.12535T>C (p.Phe4179Leu)
c.4691T>C
c.12514T>C (p.Phe4172Leu)
c.2567T>C
c.12466T>C (p.Phe4156Leu)
n.3709T>C
c.12568T>C (p.Phe4190Leu)
c.12565T>C (p.Phe4189Leu)
c.12544T>C (p.Phe4182Leu)
c.12538T>C (p.Phe4180Leu)
c.12532T>C (p.Phe4178Leu)
c.12508T>C (p.Phe4170Leu)
c.12331T>C (p.Phe4111Leu)
c.12475T>C (p.Phe4159Leu)
c.12547T>C (p.Phe4183Leu)
1g.237784226T>GCA345413519RYR2c.*3606T>G (n.*3606T>G)
c.12502T>G (p.Phe4168Val)
c.12535T>G (p.Phe4179Val)
c.4691T>G
c.12514T>G (p.Phe4172Val)
c.2567T>G
c.12466T>G (p.Phe4156Val)
n.3709T>G
c.12568T>G (p.Phe4190Val)
c.12565T>G (p.Phe4189Val)
c.12544T>G (p.Phe4182Val)
c.12538T>G (p.Phe4180Val)
c.12532T>G (p.Phe4178Val)
c.12508T>G (p.Phe4170Val)
c.12331T>G (p.Phe4111Val)
c.12475T>G (p.Phe4159Val)
c.12547T>G (p.Phe4183Val)
1g.237784227T>ACA345413520RYR2c.*3607T>A (n.*3607T>A)
c.12503T>A (p.Phe4168Tyr)
c.12536T>A (p.Phe4179Tyr)
c.4692T>A
c.12515T>A (p.Phe4172Tyr)
c.2568T>A
c.12467T>A (p.Phe4156Tyr)
n.3710T>A
c.12569T>A (p.Phe4190Tyr)
c.12566T>A (p.Phe4189Tyr)
c.12545T>A (p.Phe4182Tyr)
c.12539T>A (p.Phe4180Tyr)
c.12533T>A (p.Phe4178Tyr)
c.12509T>A (p.Phe4170Tyr)
c.12332T>A (p.Phe4111Tyr)
c.12476T>A (p.Phe4159Tyr)
c.12548T>A (p.Phe4183Tyr)
1g.237784227T>CCA345413521RYR2c.*3607T>C (n.*3607T>C)
c.12503T>C (p.Phe4168Ser)
c.12536T>C (p.Phe4179Ser)
c.4692T>C
c.12515T>C (p.Phe4172Ser)
c.2568T>C
c.12467T>C (p.Phe4156Ser)
n.3710T>C
c.12569T>C (p.Phe4190Ser)
c.12566T>C (p.Phe4189Ser)
c.12545T>C (p.Phe4182Ser)
c.12539T>C (p.Phe4180Ser)
c.12533T>C (p.Phe4178Ser)
c.12509T>C (p.Phe4170Ser)
c.12332T>C (p.Phe4111Ser)
c.12476T>C (p.Phe4159Ser)
c.12548T>C (p.Phe4183Ser)
1g.237784227T>GCA345413522RYR2c.*3607T>G (n.*3607T>G)
c.12503T>G (p.Phe4168Cys)
c.12536T>G (p.Phe4179Cys)
c.4692T>G
c.12515T>G (p.Phe4172Cys)
c.2568T>G
c.12467T>G (p.Phe4156Cys)
n.3710T>G
c.12569T>G (p.Phe4190Cys)
c.12566T>G (p.Phe4189Cys)
c.12545T>G (p.Phe4182Cys)
c.12539T>G (p.Phe4180Cys)
c.12533T>G (p.Phe4178Cys)
c.12509T>G (p.Phe4170Cys)
c.12332T>G (p.Phe4111Cys)
c.12476T>G (p.Phe4159Cys)
c.12548T>G (p.Phe4183Cys)
1g.237784228C>ACA345413523RYR2c.*3608C>A (n.*3608C>A)
c.12504C>A (p.Phe4168Leu)
c.12537C>A (p.Phe4179Leu)
c.4693C>A
c.12516C>A (p.Phe4172Leu)
c.2569C>A
c.12468C>A (p.Phe4156Leu)
n.3711C>A
c.12570C>A (p.Phe4190Leu)
c.12567C>A (p.Phe4189Leu)
c.12546C>A (p.Phe4182Leu)
c.12540C>A (p.Phe4180Leu)
c.12534C>A (p.Phe4178Leu)
c.12510C>A (p.Phe4170Leu)
c.12333C>A (p.Phe4111Leu)
c.12477C>A (p.Phe4159Leu)
c.12549C>A (p.Phe4183Leu)
1g.237784228C>GCA345413524RYR2c.*3608C>G (n.*3608C>G)
c.12504C>G (p.Phe4168Leu)
c.12537C>G (p.Phe4179Leu)
c.4693C>G
c.12516C>G (p.Phe4172Leu)
c.2569C>G
c.12468C>G (p.Phe4156Leu)
n.3711C>G
c.12570C>G (p.Phe4190Leu)
c.12567C>G (p.Phe4189Leu)
c.12546C>G (p.Phe4182Leu)
c.12540C>G (p.Phe4180Leu)
c.12534C>G (p.Phe4178Leu)
c.12510C>G (p.Phe4170Leu)
c.12333C>G (p.Phe4111Leu)
c.12477C>G (p.Phe4159Leu)
c.12549C>G (p.Phe4183Leu)
1g.237784228C>TCA424032283RYR2c.*3608C>T (n.*3608C>T)
c.12504C>T (p.Phe4168=)
c.12537C>T (p.Phe4179=)
c.4693C>T
c.12516C>T (p.Phe4172=)
c.2569C>T
c.12468C>T (p.Phe4156=)
n.3711C>T
c.12570C>T (p.Phe4190=)
c.12567C>T (p.Phe4189=)
c.12546C>T (p.Phe4182=)
c.12540C>T (p.Phe4180=)
c.12534C>T (p.Phe4178=)
c.12510C>T (p.Phe4170=)
c.12333C>T (p.Phe4111=)
c.12477C>T (p.Phe4159=)
c.12549C>T (p.Phe4183=)
 COSMIC COSMIC
1g.237784229A>CCA345413527RYR2c.*3609A>C (n.*3609A>C)
c.12505A>C (p.Ile4169Leu)
c.12538A>C (p.Ile4180Leu)
c.4694A>C
c.12517A>C (p.Ile4173Leu)
c.2570A>C
c.12469A>C (p.Ile4157Leu)
n.3712A>C
c.12571A>C (p.Ile4191Leu)
c.12568A>C (p.Ile4190Leu)
c.12547A>C (p.Ile4183Leu)
c.12541A>C (p.Ile4181Leu)
c.12535A>C (p.Ile4179Leu)
c.12511A>C (p.Ile4171Leu)
c.12334A>C (p.Ile4112Leu)
c.12478A>C (p.Ile4160Leu)
c.12550A>C (p.Ile4184Leu)
1g.237784229A>GCA345413529RYR2c.*3609A>G (n.*3609A>G)
c.12505A>G (p.Ile4169Val)
c.12538A>G (p.Ile4180Val)
c.4694A>G
c.12517A>G (p.Ile4173Val)
c.2570A>G
c.12469A>G (p.Ile4157Val)
n.3712A>G
c.12571A>G (p.Ile4191Val)
c.12568A>G (p.Ile4190Val)
c.12547A>G (p.Ile4183Val)
c.12541A>G (p.Ile4181Val)
c.12535A>G (p.Ile4179Val)
c.12511A>G (p.Ile4171Val)
c.12334A>G (p.Ile4112Val)
c.12478A>G (p.Ile4160Val)
c.12550A>G (p.Ile4184Val)
1g.237784229A>TCA345413530RYR2c.*3609A>T (n.*3609A>T)
c.12505A>T (p.Ile4169Leu)
c.12538A>T (p.Ile4180Leu)
c.4694A>T
c.12517A>T (p.Ile4173Leu)
c.2570A>T
c.12469A>T (p.Ile4157Leu)
n.3712A>T
c.12571A>T (p.Ile4191Leu)
c.12568A>T (p.Ile4190Leu)
c.12547A>T (p.Ile4183Leu)
c.12541A>T (p.Ile4181Leu)
c.12535A>T (p.Ile4179Leu)
c.12511A>T (p.Ile4171Leu)
c.12334A>T (p.Ile4112Leu)
c.12478A>T (p.Ile4160Leu)
c.12550A>T (p.Ile4184Leu)
1g.237784230T>ACA345413531RYR2c.*3610T>A (n.*3610T>A)
c.12506T>A (p.Ile4169Lys)
c.12539T>A (p.Ile4180Lys)
c.4695T>A
c.12518T>A (p.Ile4173Lys)
c.2571T>A
c.12470T>A (p.Ile4157Lys)
n.3713T>A
c.12572T>A (p.Ile4191Lys)
c.12569T>A (p.Ile4190Lys)
c.12548T>A (p.Ile4183Lys)
c.12542T>A (p.Ile4181Lys)
c.12536T>A (p.Ile4179Lys)
c.12512T>A (p.Ile4171Lys)
c.12335T>A (p.Ile4112Lys)
c.12479T>A (p.Ile4160Lys)
c.12551T>A (p.Ile4184Lys)
1g.237784230T>CCA345413532RYR2c.*3610T>C (n.*3610T>C)
c.12506T>C (p.Ile4169Thr)
c.12539T>C (p.Ile4180Thr)
c.4695T>C
c.12518T>C (p.Ile4173Thr)
c.2571T>C
c.12470T>C (p.Ile4157Thr)
n.3713T>C
c.12572T>C (p.Ile4191Thr)
c.12569T>C (p.Ile4190Thr)
c.12548T>C (p.Ile4183Thr)
c.12542T>C (p.Ile4181Thr)
c.12536T>C (p.Ile4179Thr)
c.12512T>C (p.Ile4171Thr)
c.12335T>C (p.Ile4112Thr)
c.12479T>C (p.Ile4160Thr)
c.12551T>C (p.Ile4184Thr)
1g.237784230T>GCA345413533RYR2c.*3610T>G (n.*3610T>G)
c.12506T>G (p.Ile4169Arg)
c.12539T>G (p.Ile4180Arg)
c.4695T>G
c.12518T>G (p.Ile4173Arg)
c.2571T>G
c.12470T>G (p.Ile4157Arg)
n.3713T>G
c.12572T>G (p.Ile4191Arg)
c.12569T>G (p.Ile4190Arg)
c.12548T>G (p.Ile4183Arg)
c.12542T>G (p.Ile4181Arg)
c.12536T>G (p.Ile4179Arg)
c.12512T>G (p.Ile4171Arg)
c.12335T>G (p.Ile4112Arg)
c.12479T>G (p.Ile4160Arg)
c.12551T>G (p.Ile4184Arg)
 dbSNP
1g.237784230T=CA2487482434RYR2c.*3610T= (n.*3610T=)
c.12506T= (p.Ile4169=)
c.12539T= (p.Ile4180=)
c.4695T=
c.12518T= (p.Ile4173=)
c.2571T=
c.12470T= (p.Ile4157=)
n.3713T=
c.12572T= (p.Ile4191=)
c.12569T= (p.Ile4190=)
c.12548T= (p.Ile4183=)
c.12542T= (p.Ile4181=)
c.12536T= (p.Ile4179=)
c.12512T= (p.Ile4171=)
c.12335T= (p.Ile4112=)
c.12479T= (p.Ile4160=)
c.12551T= (p.Ile4184=)
1g.237784231A=CA2487482435RYR2c.*3611A= (n.*3611A=)
c.12507A= (p.Ile4169=)
c.12540A= (p.Ile4180=)
c.4696A=
c.12519A= (p.Ile4173=)
c.2572A=
c.12471A= (p.Ile4157=)
n.3714A=
c.12573A= (p.Ile4191=)
c.12570A= (p.Ile4190=)
c.12549A= (p.Ile4183=)
c.12543A= (p.Ile4181=)
c.12537A= (p.Ile4179=)
c.12513A= (p.Ile4171=)
c.12336A= (p.Ile4112=)
c.12480A= (p.Ile4160=)
c.12552A= (p.Ile4184=)
1g.237784231A>CCA424032284RYR2c.*3611A>C (n.*3611A>C)
c.12507A>C (p.Ile4169=)
c.12540A>C (p.Ile4180=)
c.4696A>C
c.12519A>C (p.Ile4173=)
c.2572A>C
c.12471A>C (p.Ile4157=)
n.3714A>C
c.12573A>C (p.Ile4191=)
c.12570A>C (p.Ile4190=)
c.12549A>C (p.Ile4183=)
c.12543A>C (p.Ile4181=)
c.12537A>C (p.Ile4179=)
c.12513A>C (p.Ile4171=)
c.12336A>C (p.Ile4112=)
c.12480A>C (p.Ile4160=)
c.12552A>C (p.Ile4184=)
1g.237784231A>GCA345413534RYR2c.*3611A>G (n.*3611A>G)
c.12507A>G (p.Ile4169Met)
c.12540A>G (p.Ile4180Met)
c.4696A>G
c.12519A>G (p.Ile4173Met)
c.2572A>G
c.12471A>G (p.Ile4157Met)
n.3714A>G
c.12573A>G (p.Ile4191Met)
c.12570A>G (p.Ile4190Met)
c.12549A>G (p.Ile4183Met)
c.12543A>G (p.Ile4181Met)
c.12537A>G (p.Ile4179Met)
c.12513A>G (p.Ile4171Met)
c.12336A>G (p.Ile4112Met)
c.12480A>G (p.Ile4160Met)
c.12552A>G (p.Ile4184Met)
 ClinVar dbSNP COSMIC COSMIC
1g.237784231A>TCA424032285RYR2c.*3611A>T (n.*3611A>T)
c.12507A>T (p.Ile4169=)
c.12540A>T (p.Ile4180=)
c.4696A>T
c.12519A>T (p.Ile4173=)
c.2572A>T
c.12471A>T (p.Ile4157=)
n.3714A>T
c.12573A>T (p.Ile4191=)
c.12570A>T (p.Ile4190=)
c.12549A>T (p.Ile4183=)
c.12543A>T (p.Ile4181=)
c.12537A>T (p.Ile4179=)
c.12513A>T (p.Ile4171=)
c.12336A>T (p.Ile4112=)
c.12480A>T (p.Ile4160=)
c.12552A>T (p.Ile4184=)
1g.237784232T>ACA345413535RYR2c.*3612T>A (n.*3612T>A)
c.12508T>A (p.Phe4170Ile)
c.12541T>A (p.Phe4181Ile)
c.4697T>A
c.12520T>A (p.Phe4174Ile)
c.2573T>A
c.12472T>A (p.Phe4158Ile)
n.3715T>A
c.12574T>A (p.Phe4192Ile)
c.12571T>A (p.Phe4191Ile)
c.12550T>A (p.Phe4184Ile)
c.12544T>A (p.Phe4182Ile)
c.12538T>A (p.Phe4180Ile)
c.12514T>A (p.Phe4172Ile)
c.12337T>A (p.Phe4113Ile)
c.12481T>A (p.Phe4161Ile)
c.12553T>A (p.Phe4185Ile)
1g.237784232T>CCA345413536RYR2c.*3612T>C (n.*3612T>C)
c.12508T>C (p.Phe4170Leu)
c.12541T>C (p.Phe4181Leu)
c.4697T>C
c.12520T>C (p.Phe4174Leu)
c.2573T>C
c.12472T>C (p.Phe4158Leu)
n.3715T>C
c.12574T>C (p.Phe4192Leu)
c.12571T>C (p.Phe4191Leu)
c.12550T>C (p.Phe4184Leu)
c.12544T>C (p.Phe4182Leu)
c.12538T>C (p.Phe4180Leu)
c.12514T>C (p.Phe4172Leu)
c.12337T>C (p.Phe4113Leu)
c.12481T>C (p.Phe4161Leu)
c.12553T>C (p.Phe4185Leu)
1g.237784232T>GCA345413537RYR2c.*3612T>G (n.*3612T>G)
c.12508T>G (p.Phe4170Val)
c.12541T>G (p.Phe4181Val)
c.4697T>G
c.12520T>G (p.Phe4174Val)
c.2573T>G
c.12472T>G (p.Phe4158Val)
n.3715T>G
c.12574T>G (p.Phe4192Val)
c.12571T>G (p.Phe4191Val)
c.12550T>G (p.Phe4184Val)
c.12544T>G (p.Phe4182Val)
c.12538T>G (p.Phe4180Val)
c.12514T>G (p.Phe4172Val)
c.12337T>G (p.Phe4113Val)
c.12481T>G (p.Phe4161Val)
c.12553T>G (p.Phe4185Val)
1g.237784233T>ACA345413538RYR2c.*3613T>A (n.*3613T>A)
c.12509T>A (p.Phe4170Tyr)
c.12542T>A (p.Phe4181Tyr)
c.4698T>A
c.12521T>A (p.Phe4174Tyr)
c.2574T>A
c.12473T>A (p.Phe4158Tyr)
n.3716T>A
c.12575T>A (p.Phe4192Tyr)
c.12572T>A (p.Phe4191Tyr)
c.12551T>A (p.Phe4184Tyr)
c.12545T>A (p.Phe4182Tyr)
c.12539T>A (p.Phe4180Tyr)
c.12515T>A (p.Phe4172Tyr)
c.12338T>A (p.Phe4113Tyr)
c.12482T>A (p.Phe4161Tyr)
c.12554T>A (p.Phe4185Tyr)
 ClinVar
1g.237784233T>CCA345413539RYR2c.*3613T>C (n.*3613T>C)
c.12509T>C (p.Phe4170Ser)
c.12542T>C (p.Phe4181Ser)
c.4698T>C
c.12521T>C (p.Phe4174Ser)
c.2574T>C
c.12473T>C (p.Phe4158Ser)
n.3716T>C
c.12575T>C (p.Phe4192Ser)
c.12572T>C (p.Phe4191Ser)
c.12551T>C (p.Phe4184Ser)
c.12545T>C (p.Phe4182Ser)
c.12539T>C (p.Phe4180Ser)
c.12515T>C (p.Phe4172Ser)
c.12338T>C (p.Phe4113Ser)
c.12482T>C (p.Phe4161Ser)
c.12554T>C (p.Phe4185Ser)
1g.237784233T>GCA345413540RYR2c.*3613T>G (n.*3613T>G)
c.12509T>G (p.Phe4170Cys)
c.12542T>G (p.Phe4181Cys)
c.4698T>G
c.12521T>G (p.Phe4174Cys)
c.2574T>G
c.12473T>G (p.Phe4158Cys)
n.3716T>G
c.12575T>G (p.Phe4192Cys)
c.12572T>G (p.Phe4191Cys)
c.12551T>G (p.Phe4184Cys)
c.12545T>G (p.Phe4182Cys)
c.12539T>G (p.Phe4180Cys)
c.12515T>G (p.Phe4172Cys)
c.12338T>G (p.Phe4113Cys)
c.12482T>G (p.Phe4161Cys)
c.12554T>G (p.Phe4185Cys)
 ClinVar
1g.237784234T>ACA345413541RYR2c.*3614T>A (n.*3614T>A)
c.12510T>A (p.Phe4170Leu)
c.12543T>A (p.Phe4181Leu)
c.4699T>A
c.12522T>A (p.Phe4174Leu)
c.2575T>A
c.12474T>A (p.Phe4158Leu)
n.3717T>A
c.12576T>A (p.Phe4192Leu)
c.12573T>A (p.Phe4191Leu)
c.12552T>A (p.Phe4184Leu)
c.12546T>A (p.Phe4182Leu)
c.12540T>A (p.Phe4180Leu)
c.12516T>A (p.Phe4172Leu)
c.12339T>A (p.Phe4113Leu)
c.12483T>A (p.Phe4161Leu)
c.12555T>A (p.Phe4185Leu)
1g.237784234T>CCA424032289RYR2c.*3614T>C (n.*3614T>C)
c.12510T>C (p.Phe4170=)
c.12543T>C (p.Phe4181=)
c.4699T>C
c.12522T>C (p.Phe4174=)
c.2575T>C
c.12474T>C (p.Phe4158=)
n.3717T>C
c.12576T>C (p.Phe4192=)
c.12573T>C (p.Phe4191=)
c.12552T>C (p.Phe4184=)
c.12546T>C (p.Phe4182=)
c.12540T>C (p.Phe4180=)
c.12516T>C (p.Phe4172=)
c.12339T>C (p.Phe4113=)
c.12483T>C (p.Phe4161=)
c.12555T>C (p.Phe4185=)
1g.237784234T>GCA345413542RYR2c.*3614T>G (n.*3614T>G)
c.12510T>G (p.Phe4170Leu)
c.12543T>G (p.Phe4181Leu)
c.4699T>G
c.12522T>G (p.Phe4174Leu)
c.2575T>G
c.12474T>G (p.Phe4158Leu)
n.3717T>G
c.12576T>G (p.Phe4192Leu)
c.12573T>G (p.Phe4191Leu)
c.12552T>G (p.Phe4184Leu)
c.12546T>G (p.Phe4182Leu)
c.12540T>G (p.Phe4180Leu)
c.12516T>G (p.Phe4172Leu)
c.12339T>G (p.Phe4113Leu)
c.12483T>G (p.Phe4161Leu)
c.12555T>G (p.Phe4185Leu)
1g.237784235G>ACA345413543RYR2c.*3615G>A (n.*3615G>A)
c.12511G>A (p.Asp4171Asn)
c.12544G>A (p.Asp4182Asn)
c.4700G>A
c.12523G>A (p.Asp4175Asn)
c.2576G>A
c.12475G>A (p.Asp4159Asn)
n.3718G>A
c.12577G>A (p.Asp4193Asn)
c.12574G>A (p.Asp4192Asn)
c.12553G>A (p.Asp4185Asn)
c.12547G>A (p.Asp4183Asn)
c.12541G>A (p.Asp4181Asn)
c.12517G>A (p.Asp4173Asn)
c.12340G>A (p.Asp4114Asn)
c.12484G>A (p.Asp4162Asn)
c.12556G>A (p.Asp4186Asn)
1g.237784235G>CCA345413545RYR2c.*3615G>C (n.*3615G>C)
c.12511G>C (p.Asp4171His)
c.12544G>C (p.Asp4182His)
c.4700G>C
c.12523G>C (p.Asp4175His)
c.2576G>C
c.12475G>C (p.Asp4159His)
n.3718G>C
c.12577G>C (p.Asp4193His)
c.12574G>C (p.Asp4192His)
c.12553G>C (p.Asp4185His)
c.12547G>C (p.Asp4183His)
c.12541G>C (p.Asp4181His)
c.12517G>C (p.Asp4173His)
c.12340G>C (p.Asp4114His)
c.12484G>C (p.Asp4162His)
c.12556G>C (p.Asp4186His)
1g.237784235G>TCA345413544RYR2c.*3615G>T (n.*3615G>T)
c.12511G>T (p.Asp4171Tyr)
c.12544G>T (p.Asp4182Tyr)
c.4700G>T
c.12523G>T (p.Asp4175Tyr)
c.2576G>T
c.12475G>T (p.Asp4159Tyr)
n.3718G>T
c.12577G>T (p.Asp4193Tyr)
c.12574G>T (p.Asp4192Tyr)
c.12553G>T (p.Asp4185Tyr)
c.12547G>T (p.Asp4183Tyr)
c.12541G>T (p.Asp4181Tyr)
c.12517G>T (p.Asp4173Tyr)
c.12340G>T (p.Asp4114Tyr)
c.12484G>T (p.Asp4162Tyr)
c.12556G>T (p.Asp4186Tyr)
1g.237784236A>CCA345413546RYR2c.*3616A>C (n.*3616A>C)
c.12512A>C (p.Asp4171Ala)
c.12545A>C (p.Asp4182Ala)
c.4701A>C
c.12524A>C (p.Asp4175Ala)
c.2577A>C
c.12476A>C (p.Asp4159Ala)
n.3719A>C
c.12578A>C (p.Asp4193Ala)
c.12575A>C (p.Asp4192Ala)
c.12554A>C (p.Asp4185Ala)
c.12548A>C (p.Asp4183Ala)
c.12542A>C (p.Asp4181Ala)
c.12518A>C (p.Asp4173Ala)
c.12341A>C (p.Asp4114Ala)
c.12485A>C (p.Asp4162Ala)
c.12557A>C (p.Asp4186Ala)
1g.237784236A>GCA345413548RYR2c.*3616A>G (n.*3616A>G)
c.12512A>G (p.Asp4171Gly)
c.12545A>G (p.Asp4182Gly)
c.4701A>G
c.12524A>G (p.Asp4175Gly)
c.2577A>G
c.12476A>G (p.Asp4159Gly)
n.3719A>G
c.12578A>G (p.Asp4193Gly)
c.12575A>G (p.Asp4192Gly)
c.12554A>G (p.Asp4185Gly)
c.12548A>G (p.Asp4183Gly)
c.12542A>G (p.Asp4181Gly)
c.12518A>G (p.Asp4173Gly)
c.12341A>G (p.Asp4114Gly)
c.12485A>G (p.Asp4162Gly)
c.12557A>G (p.Asp4186Gly)
1g.237784236A>TCA345413547RYR2c.*3616A>T (n.*3616A>T)
c.12512A>T (p.Asp4171Val)
c.12545A>T (p.Asp4182Val)
c.4701A>T
c.12524A>T (p.Asp4175Val)
c.2577A>T
c.12476A>T (p.Asp4159Val)
n.3719A>T
c.12578A>T (p.Asp4193Val)
c.12575A>T (p.Asp4192Val)
c.12554A>T (p.Asp4185Val)
c.12548A>T (p.Asp4183Val)
c.12542A>T (p.Asp4181Val)
c.12518A>T (p.Asp4173Val)
c.12341A>T (p.Asp4114Val)
c.12485A>T (p.Asp4162Val)
c.12557A>T (p.Asp4186Val)
1g.237784237C>ACA345413549RYR2c.*3617C>A (n.*3617C>A)
c.12513C>A (p.Asp4171Glu)
c.12546C>A (p.Asp4182Glu)
c.4702C>A
c.12525C>A (p.Asp4175Glu)
c.2578C>A
c.12477C>A (p.Asp4159Glu)
n.3720C>A
c.12579C>A (p.Asp4193Glu)
c.12576C>A (p.Asp4192Glu)
c.12555C>A (p.Asp4185Glu)
c.12549C>A (p.Asp4183Glu)
c.12543C>A (p.Asp4181Glu)
c.12519C>A (p.Asp4173Glu)
c.12342C>A (p.Asp4114Glu)
c.12486C>A (p.Asp4162Glu)
c.12558C>A (p.Asp4186Glu)
 ClinVar dbSNP
1g.237784237C=CA2487482436RYR2c.*3617C= (n.*3617C=)
c.12513C= (p.Asp4171=)
c.12546C= (p.Asp4182=)
c.4702C=
c.12525C= (p.Asp4175=)
c.2578C=
c.12477C= (p.Asp4159=)
n.3720C=
c.12579C= (p.Asp4193=)
c.12576C= (p.Asp4192=)
c.12555C= (p.Asp4185=)
c.12549C= (p.Asp4183=)
c.12543C= (p.Asp4181=)
c.12519C= (p.Asp4173=)
c.12342C= (p.Asp4114=)
c.12486C= (p.Asp4162=)
c.12558C= (p.Asp4186=)
1g.237784237C>GCA345413550RYR2c.*3617C>G (n.*3617C>G)
c.12513C>G (p.Asp4171Glu)
c.12546C>G (p.Asp4182Glu)
c.4702C>G
c.12525C>G (p.Asp4175Glu)
c.2578C>G
c.12477C>G (p.Asp4159Glu)
n.3720C>G
c.12579C>G (p.Asp4193Glu)
c.12576C>G (p.Asp4192Glu)
c.12555C>G (p.Asp4185Glu)
c.12549C>G (p.Asp4183Glu)
c.12543C>G (p.Asp4181Glu)
c.12519C>G (p.Asp4173Glu)
c.12342C>G (p.Asp4114Glu)
c.12486C>G (p.Asp4162Glu)
c.12558C>G (p.Asp4186Glu)
1g.237784237C>TCA424032290RYR2c.*3617C>T (n.*3617C>T)
c.12513C>T (p.Asp4171=)
c.12546C>T (p.Asp4182=)
c.4702C>T
c.12525C>T (p.Asp4175=)
c.2578C>T
c.12477C>T (p.Asp4159=)
n.3720C>T
c.12579C>T (p.Asp4193=)
c.12576C>T (p.Asp4192=)
c.12555C>T (p.Asp4185=)
c.12549C>T (p.Asp4183=)
c.12543C>T (p.Asp4181=)
c.12519C>T (p.Asp4173=)
c.12342C>T (p.Asp4114=)
c.12486C>T (p.Asp4162=)
c.12558C>T (p.Asp4186=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.237784238G>ACA007563RYR2c.*3618G>A (n.*3618G>A)
c.12514G>A (p.Val4172Met)
c.12547G>A (p.Val4183Met)
c.4703G>A
c.12526G>A (p.Val4176Met)
c.2579G>A
c.12478G>A (p.Val4160Met)
n.3721G>A
c.12580G>A (p.Val4194Met)
c.12577G>A (p.Val4193Met)
c.12556G>A (p.Val4186Met)
c.12550G>A (p.Val4184Met)
c.12544G>A (p.Val4182Met)
c.12520G>A (p.Val4174Met)
c.12343G>A (p.Val4115Met)
c.12487G>A (p.Val4163Met)
c.12559G>A (p.Val4187Met)
 ClinVar dbSNP gnomAD v4
1g.237784238G>CCA345413551RYR2c.*3618G>C (n.*3618G>C)
c.12514G>C (p.Val4172Leu)
c.12547G>C (p.Val4183Leu)
c.4703G>C
c.12526G>C (p.Val4176Leu)
c.2579G>C
c.12478G>C (p.Val4160Leu)
n.3721G>C
c.12580G>C (p.Val4194Leu)
c.12577G>C (p.Val4193Leu)
c.12556G>C (p.Val4186Leu)
c.12550G>C (p.Val4184Leu)
c.12544G>C (p.Val4182Leu)
c.12520G>C (p.Val4174Leu)
c.12343G>C (p.Val4115Leu)
c.12487G>C (p.Val4163Leu)
c.12559G>C (p.Val4187Leu)
 dbSNP gnomAD v3 gnomAD v4
1g.237784238G=CA2487482437RYR2c.*3618G= (n.*3618G=)
c.12514G= (p.Val4172=)
c.12547G= (p.Val4183=)
c.4703G=
c.12526G= (p.Val4176=)
c.2579G=
c.12478G= (p.Val4160=)
n.3721G=
c.12580G= (p.Val4194=)
c.12577G= (p.Val4193=)
c.12556G= (p.Val4186=)
c.12550G= (p.Val4184=)
c.12544G= (p.Val4182=)
c.12520G= (p.Val4174=)
c.12343G= (p.Val4115=)
c.12487G= (p.Val4163=)
c.12559G= (p.Val4187=)
1g.237784238G>TCA345413552RYR2c.*3618G>T (n.*3618G>T)
c.12514G>T (p.Val4172Leu)
c.12547G>T (p.Val4183Leu)
c.4703G>T
c.12526G>T (p.Val4176Leu)
c.2579G>T
c.12478G>T (p.Val4160Leu)
n.3721G>T
c.12580G>T (p.Val4194Leu)
c.12577G>T (p.Val4193Leu)
c.12556G>T (p.Val4186Leu)
c.12550G>T (p.Val4184Leu)
c.12544G>T (p.Val4182Leu)
c.12520G>T (p.Val4174Leu)
c.12343G>T (p.Val4115Leu)
c.12487G>T (p.Val4163Leu)
c.12559G>T (p.Val4187Leu)
1g.237784239T>ACA345413553RYR2c.*3619T>A (n.*3619T>A)
c.12515T>A (p.Val4172Glu)
c.12548T>A (p.Val4183Glu)
c.4704T>A
c.12527T>A (p.Val4176Glu)
c.2580T>A
c.12479T>A (p.Val4160Glu)
n.3722T>A
c.12581T>A (p.Val4194Glu)
c.12578T>A (p.Val4193Glu)
c.12557T>A (p.Val4186Glu)
c.12551T>A (p.Val4184Glu)
c.12545T>A (p.Val4182Glu)
c.12521T>A (p.Val4174Glu)
c.12344T>A (p.Val4115Glu)
c.12488T>A (p.Val4163Glu)
c.12560T>A (p.Val4187Glu)
1g.237784239T>CCA345413554RYR2c.*3619T>C (n.*3619T>C)
c.12515T>C (p.Val4172Ala)
c.12548T>C (p.Val4183Ala)
c.4704T>C
c.12527T>C (p.Val4176Ala)
c.2580T>C
c.12479T>C (p.Val4160Ala)
n.3722T>C
c.12581T>C (p.Val4194Ala)
c.12578T>C (p.Val4193Ala)
c.12557T>C (p.Val4186Ala)
c.12551T>C (p.Val4184Ala)
c.12545T>C (p.Val4182Ala)
c.12521T>C (p.Val4174Ala)
c.12344T>C (p.Val4115Ala)
c.12488T>C (p.Val4163Ala)
c.12560T>C (p.Val4187Ala)
 COSMIC COSMIC
1g.237784239T>GCA345413555RYR2c.*3619T>G (n.*3619T>G)
c.12515T>G (p.Val4172Gly)
c.12548T>G (p.Val4183Gly)
c.4704T>G
c.12527T>G (p.Val4176Gly)
c.2580T>G
c.12479T>G (p.Val4160Gly)
n.3722T>G
c.12581T>G (p.Val4194Gly)
c.12578T>G (p.Val4193Gly)
c.12557T>G (p.Val4186Gly)
c.12551T>G (p.Val4184Gly)
c.12545T>G (p.Val4182Gly)
c.12521T>G (p.Val4174Gly)
c.12344T>G (p.Val4115Gly)
c.12488T>G (p.Val4163Gly)
c.12560T>G (p.Val4187Gly)
1g.237784240G>ACA066489RYR2c.*3620G>A (n.*3620G>A)
c.12516G>A (p.Val4172=)
c.12549G>A (p.Val4183=)
c.4705G>A
c.12528G>A (p.Val4176=)
c.2581G>A
c.12480G>A (p.Val4160=)
n.3723G>A
c.12582G>A (p.Val4194=)
c.12579G>A (p.Val4193=)
c.12558G>A (p.Val4186=)
c.12552G>A (p.Val4184=)
c.12546G>A (p.Val4182=)
c.12522G>A (p.Val4174=)
c.12345G>A (p.Val4115=)
c.12489G>A (p.Val4163=)
c.12561G>A (p.Val4187=)
1g.237784240G>CCA424032295RYR2c.*3620G>C (n.*3620G>C)
c.12516G>C (p.Val4172=)
c.12549G>C (p.Val4183=)
c.4705G>C
c.12528G>C (p.Val4176=)
c.2581G>C
c.12480G>C (p.Val4160=)
n.3723G>C
c.12582G>C (p.Val4194=)
c.12579G>C (p.Val4193=)
c.12558G>C (p.Val4186=)
c.12552G>C (p.Val4184=)
c.12546G>C (p.Val4182=)
c.12522G>C (p.Val4174=)
c.12345G>C (p.Val4115=)
c.12489G>C (p.Val4163=)
c.12561G>C (p.Val4187=)
1g.237784240G>TCA424032294RYR2c.*3620G>T (n.*3620G>T)
c.12516G>T (p.Val4172=)
c.12549G>T (p.Val4183=)
c.4705G>T
c.12528G>T (p.Val4176=)
c.2581G>T
c.12480G>T (p.Val4160=)
n.3723G>T
c.12582G>T (p.Val4194=)
c.12579G>T (p.Val4193=)
c.12558G>T (p.Val4186=)
c.12552G>T (p.Val4184=)
c.12546G>T (p.Val4182=)
c.12522G>T (p.Val4174=)
c.12345G>T (p.Val4115=)
c.12489G>T (p.Val4163=)
c.12561G>T (p.Val4187=)
1g.237784241G>ACA345413556RYR2c.*3621G>A (n.*3621G>A)
c.12517G>A (p.Val4173Ile)
c.12550G>A (p.Val4184Ile)
c.4706G>A
c.12529G>A (p.Val4177Ile)
c.2582G>A
c.12481G>A (p.Val4161Ile)
n.3724G>A
c.12583G>A (p.Val4195Ile)
c.12580G>A (p.Val4194Ile)
c.12559G>A (p.Val4187Ile)
c.12553G>A (p.Val4185Ile)
c.12547G>A (p.Val4183Ile)
c.12523G>A (p.Val4175Ile)
c.12346G>A (p.Val4116Ile)
c.12490G>A (p.Val4164Ile)
c.12562G>A (p.Val4188Ile)
 COSMIC COSMIC
1g.237784241G>CCA345413557RYR2c.*3621G>C (n.*3621G>C)
c.12517G>C (p.Val4173Leu)
c.12550G>C (p.Val4184Leu)
c.4706G>C
c.12529G>C (p.Val4177Leu)
c.2582G>C
c.12481G>C (p.Val4161Leu)
n.3724G>C
c.12583G>C (p.Val4195Leu)
c.12580G>C (p.Val4194Leu)
c.12559G>C (p.Val4187Leu)
c.12553G>C (p.Val4185Leu)
c.12547G>C (p.Val4183Leu)
c.12523G>C (p.Val4175Leu)
c.12346G>C (p.Val4116Leu)
c.12490G>C (p.Val4164Leu)
c.12562G>C (p.Val4188Leu)
1g.237784241G>TCA345413558RYR2c.*3621G>T (n.*3621G>T)
c.12517G>T (p.Val4173Phe)
c.12550G>T (p.Val4184Phe)
c.4706G>T
c.12529G>T (p.Val4177Phe)
c.2582G>T
c.12481G>T (p.Val4161Phe)
n.3724G>T
c.12583G>T (p.Val4195Phe)
c.12580G>T (p.Val4194Phe)
c.12559G>T (p.Val4187Phe)
c.12553G>T (p.Val4185Phe)
c.12547G>T (p.Val4183Phe)
c.12523G>T (p.Val4175Phe)
c.12346G>T (p.Val4116Phe)
c.12490G>T (p.Val4164Phe)
c.12562G>T (p.Val4188Phe)
1g.237784242T>ACA345413561RYR2c.*3622T>A (n.*3622T>A)
c.12518T>A (p.Val4173Asp)
c.12551T>A (p.Val4184Asp)
c.4707T>A
c.12530T>A (p.Val4177Asp)
c.2583T>A
c.12482T>A (p.Val4161Asp)
n.3725T>A
c.12584T>A (p.Val4195Asp)
c.12581T>A (p.Val4194Asp)
c.12560T>A (p.Val4187Asp)
c.12554T>A (p.Val4185Asp)
c.12548T>A (p.Val4183Asp)
c.12524T>A (p.Val4175Asp)
c.12347T>A (p.Val4116Asp)
c.12491T>A (p.Val4164Asp)
c.12563T>A (p.Val4188Asp)
 ClinVar dbSNP
1g.237784242T>CCA345413560RYR2c.*3622T>C (n.*3622T>C)
c.12518T>C (p.Val4173Ala)
c.12551T>C (p.Val4184Ala)
c.4707T>C
c.12530T>C (p.Val4177Ala)
c.2583T>C
c.12482T>C (p.Val4161Ala)
n.3725T>C
c.12584T>C (p.Val4195Ala)
c.12581T>C (p.Val4194Ala)
c.12560T>C (p.Val4187Ala)
c.12554T>C (p.Val4185Ala)
c.12548T>C (p.Val4183Ala)
c.12524T>C (p.Val4175Ala)
c.12347T>C (p.Val4116Ala)
c.12491T>C (p.Val4164Ala)
c.12563T>C (p.Val4188Ala)
 ClinVar dbSNP
1g.237784242T>GCA345413559RYR2c.*3622T>G (n.*3622T>G)
c.12518T>G (p.Val4173Gly)
c.12551T>G (p.Val4184Gly)
c.4707T>G
c.12530T>G (p.Val4177Gly)
c.2583T>G
c.12482T>G (p.Val4161Gly)
n.3725T>G
c.12584T>G (p.Val4195Gly)
c.12581T>G (p.Val4194Gly)
c.12560T>G (p.Val4187Gly)
c.12554T>G (p.Val4185Gly)
c.12548T>G (p.Val4183Gly)
c.12524T>G (p.Val4175Gly)
c.12347T>G (p.Val4116Gly)
c.12491T>G (p.Val4164Gly)
c.12563T>G (p.Val4188Gly)
1g.237784242T=CA2487482438RYR2c.*3622T= (n.*3622T=)
c.12518T= (p.Val4173=)
c.12551T= (p.Val4184=)
c.4707T=
c.12530T= (p.Val4177=)
c.2583T=
c.12482T= (p.Val4161=)
n.3725T=
c.12584T= (p.Val4195=)
c.12581T= (p.Val4194=)
c.12560T= (p.Val4187=)
c.12554T= (p.Val4185=)
c.12548T= (p.Val4183=)
c.12524T= (p.Val4175=)
c.12347T= (p.Val4116=)
c.12491T= (p.Val4164=)
c.12563T= (p.Val4188=)
1g.237784243C>ACA424032296RYR2c.*3623C>A (n.*3623C>A)
c.12519C>A (p.Val4173=)
c.12552C>A (p.Val4184=)
c.4708C>A
c.12531C>A (p.Val4177=)
c.2584C>A
c.12483C>A (p.Val4161=)
n.3726C>A
c.12585C>A (p.Val4195=)
c.12582C>A (p.Val4194=)
c.12561C>A (p.Val4187=)
c.12555C>A (p.Val4185=)
c.12549C>A (p.Val4183=)
c.12525C>A (p.Val4175=)
c.12348C>A (p.Val4116=)
c.12492C>A (p.Val4164=)
c.12564C>A (p.Val4188=)
 dbSNP gnomAD v3 gnomAD v4
1g.237784243C=CA2487482439RYR2c.*3623C= (n.*3623C=)
c.12519C= (p.Val4173=)
c.12552C= (p.Val4184=)
c.4708C=
c.12531C= (p.Val4177=)
c.2584C=
c.12483C= (p.Val4161=)
n.3726C=
c.12585C= (p.Val4195=)
c.12582C= (p.Val4194=)
c.12561C= (p.Val4187=)
c.12555C= (p.Val4185=)
c.12549C= (p.Val4183=)
c.12525C= (p.Val4175=)
c.12348C= (p.Val4116=)
c.12492C= (p.Val4164=)
c.12564C= (p.Val4188=)
1g.237784243C>GCA424032297RYR2c.*3623C>G (n.*3623C>G)
c.12519C>G (p.Val4173=)
c.12552C>G (p.Val4184=)
c.4708C>G
c.12531C>G (p.Val4177=)
c.2584C>G
c.12483C>G (p.Val4161=)
n.3726C>G
c.12585C>G (p.Val4195=)
c.12582C>G (p.Val4194=)
c.12561C>G (p.Val4187=)
c.12555C>G (p.Val4185=)
c.12549C>G (p.Val4183=)
c.12525C>G (p.Val4175=)
c.12348C>G (p.Val4116=)
c.12492C>G (p.Val4164=)
c.12564C>G (p.Val4188=)
1g.237784243C>TCA424032298RYR2c.*3623C>T (n.*3623C>T)
c.12519C>T (p.Val4173=)
c.12552C>T (p.Val4184=)
c.4708C>T
c.12531C>T (p.Val4177=)
c.2584C>T
c.12483C>T (p.Val4161=)
n.3726C>T
c.12585C>T (p.Val4195=)
c.12582C>T (p.Val4194=)
c.12561C>T (p.Val4187=)
c.12555C>T (p.Val4185=)
c.12549C>T (p.Val4183=)
c.12525C>T (p.Val4175=)
c.12348C>T (p.Val4116=)
c.12492C>T (p.Val4164=)
c.12564C>T (p.Val4188=)
1g.237784244A=CA2487482440RYR2c.*3624A= (n.*3624A=)
c.12520A= (p.Asn4174=)
c.12553A= (p.Asn4185=)
c.4709A=
c.12532A= (p.Asn4178=)
c.2585A=
c.12484A= (p.Asn4162=)
n.3727A=
c.12586A= (p.Asn4196=)
c.12583A= (p.Asn4195=)
c.12562A= (p.Asn4188=)
c.12556A= (p.Asn4186=)
c.12550A= (p.Asn4184=)
c.12526A= (p.Asn4176=)
c.12349A= (p.Asn4117=)
c.12493A= (p.Asn4165=)
c.12565A= (p.Asn4189=)
1g.237784244A>CCA345413562RYR2c.*3624A>C (n.*3624A>C)
c.12520A>C (p.Asn4174His)
c.12553A>C (p.Asn4185His)
c.4709A>C
c.12532A>C (p.Asn4178His)
c.2585A>C
c.12484A>C (p.Asn4162His)
n.3727A>C
c.12586A>C (p.Asn4196His)
c.12583A>C (p.Asn4195His)
c.12562A>C (p.Asn4188His)
c.12556A>C (p.Asn4186His)
c.12550A>C (p.Asn4184His)
c.12526A>C (p.Asn4176His)
c.12349A>C (p.Asn4117His)
c.12493A>C (p.Asn4165His)
c.12565A>C (p.Asn4189His)
1g.237784244A>GCA345413563RYR2c.*3624A>G (n.*3624A>G)
c.12520A>G (p.Asn4174Asp)
c.12553A>G (p.Asn4185Asp)
c.4709A>G
c.12532A>G (p.Asn4178Asp)
c.2585A>G
c.12484A>G (p.Asn4162Asp)
n.3727A>G
c.12586A>G (p.Asn4196Asp)
c.12583A>G (p.Asn4195Asp)
c.12562A>G (p.Asn4188Asp)
c.12556A>G (p.Asn4186Asp)
c.12550A>G (p.Asn4184Asp)
c.12526A>G (p.Asn4176Asp)
c.12349A>G (p.Asn4117Asp)
c.12493A>G (p.Asn4165Asp)
c.12565A>G (p.Asn4189Asp)
1g.237784244A>TCA345413564RYR2c.*3624A>T (n.*3624A>T)
c.12520A>T (p.Asn4174Tyr)
c.12553A>T (p.Asn4185Tyr)
c.4709A>T
c.12532A>T (p.Asn4178Tyr)
c.2585A>T
c.12484A>T (p.Asn4162Tyr)
n.3727A>T
c.12586A>T (p.Asn4196Tyr)
c.12583A>T (p.Asn4195Tyr)
c.12562A>T (p.Asn4188Tyr)
c.12556A>T (p.Asn4186Tyr)
c.12550A>T (p.Asn4184Tyr)
c.12526A>T (p.Asn4176Tyr)
c.12349A>T (p.Asn4117Tyr)
c.12493A>T (p.Asn4165Tyr)
c.12565A>T (p.Asn4189Tyr)
 ClinVar dbSNP
1g.237784245A=CA2487482441RYR2c.*3625A= (n.*3625A=)
c.12521A= (p.Asn4174=)
c.12554A= (p.Asn4185=)
c.4710A=
c.12533A= (p.Asn4178=)
c.2586A=
c.12485A= (p.Asn4162=)
n.3728A=
c.12587A= (p.Asn4196=)
c.12584A= (p.Asn4195=)
c.12563A= (p.Asn4188=)
c.12557A= (p.Asn4186=)
c.12551A= (p.Asn4184=)
c.12527A= (p.Asn4176=)
c.12350A= (p.Asn4117=)
c.12494A= (p.Asn4165=)
c.12566A= (p.Asn4189=)
1g.237784245A>CCA345413565RYR2c.*3625A>C (n.*3625A>C)
c.12521A>C (p.Asn4174Thr)
c.12554A>C (p.Asn4185Thr)
c.4710A>C
c.12533A>C (p.Asn4178Thr)
c.2586A>C
c.12485A>C (p.Asn4162Thr)
n.3728A>C
c.12587A>C (p.Asn4196Thr)
c.12584A>C (p.Asn4195Thr)
c.12563A>C (p.Asn4188Thr)
c.12557A>C (p.Asn4186Thr)
c.12551A>C (p.Asn4184Thr)
c.12527A>C (p.Asn4176Thr)
c.12350A>C (p.Asn4117Thr)
c.12494A>C (p.Asn4165Thr)
c.12566A>C (p.Asn4189Thr)
1g.237784245A>GCA007573RYR2c.*3625A>G (n.*3625A>G)
c.12521A>G (p.Asn4174Ser)
c.12554A>G (p.Asn4185Ser)
c.4710A>G
c.12533A>G (p.Asn4178Ser)
c.2586A>G
c.12485A>G (p.Asn4162Ser)
n.3728A>G
c.12587A>G (p.Asn4196Ser)
c.12584A>G (p.Asn4195Ser)
c.12563A>G (p.Asn4188Ser)
c.12557A>G (p.Asn4186Ser)
c.12551A>G (p.Asn4184Ser)
c.12527A>G (p.Asn4176Ser)
c.12350A>G (p.Asn4117Ser)
c.12494A>G (p.Asn4165Ser)
c.12566A>G (p.Asn4189Ser)
 ClinVar dbSNP
1g.237784245A>TCA345413566RYR2c.*3625A>T (n.*3625A>T)
c.12521A>T (p.Asn4174Ile)
c.12554A>T (p.Asn4185Ile)
c.4710A>T
c.12533A>T (p.Asn4178Ile)
c.2586A>T
c.12485A>T (p.Asn4162Ile)
n.3728A>T
c.12587A>T (p.Asn4196Ile)
c.12584A>T (p.Asn4195Ile)
c.12563A>T (p.Asn4188Ile)
c.12557A>T (p.Asn4186Ile)
c.12551A>T (p.Asn4184Ile)
c.12527A>T (p.Asn4176Ile)
c.12350A>T (p.Asn4117Ile)
c.12494A>T (p.Asn4165Ile)
c.12566A>T (p.Asn4189Ile)
1g.237784246C>ACA345413567RYR2c.*3626C>A (n.*3626C>A)
c.12522C>A (p.Asn4174Lys)
c.12555C>A (p.Asn4185Lys)
c.4711C>A
c.12534C>A (p.Asn4178Lys)
c.2587C>A
c.12486C>A (p.Asn4162Lys)
n.3729C>A
c.12588C>A (p.Asn4196Lys)
c.12585C>A (p.Asn4195Lys)
c.12564C>A (p.Asn4188Lys)
c.12558C>A (p.Asn4186Lys)
c.12552C>A (p.Asn4184Lys)
c.12528C>A (p.Asn4176Lys)
c.12351C>A (p.Asn4117Lys)
c.12495C>A (p.Asn4165Lys)
c.12567C>A (p.Asn4189Lys)
1g.237784246C=CA2487482442RYR2c.*3626C= (n.*3626C=)
c.12522C= (p.Asn4174=)
c.12555C= (p.Asn4185=)
c.4711C=
c.12534C= (p.Asn4178=)
c.2587C=
c.12486C= (p.Asn4162=)
n.3729C=
c.12588C= (p.Asn4196=)
c.12585C= (p.Asn4195=)
c.12564C= (p.Asn4188=)
c.12558C= (p.Asn4186=)
c.12552C= (p.Asn4184=)
c.12528C= (p.Asn4176=)
c.12351C= (p.Asn4117=)
c.12495C= (p.Asn4165=)
c.12567C= (p.Asn4189=)
1g.237784246C>GCA345413568RYR2c.*3626C>G (n.*3626C>G)
c.12522C>G (p.Asn4174Lys)
c.12555C>G (p.Asn4185Lys)
c.4711C>G
c.12534C>G (p.Asn4178Lys)
c.2587C>G
c.12486C>G (p.Asn4162Lys)
n.3729C>G
c.12588C>G (p.Asn4196Lys)
c.12585C>G (p.Asn4195Lys)
c.12564C>G (p.Asn4188Lys)
c.12558C>G (p.Asn4186Lys)
c.12552C>G (p.Asn4184Lys)
c.12528C>G (p.Asn4176Lys)
c.12351C>G (p.Asn4117Lys)
c.12495C>G (p.Asn4165Lys)
c.12567C>G (p.Asn4189Lys)
1g.237784246C>TCA424032301RYR2c.*3626C>T (n.*3626C>T)
c.12522C>T (p.Asn4174=)
c.12555C>T (p.Asn4185=)
c.4711C>T
c.12534C>T (p.Asn4178=)
c.2587C>T
c.12486C>T (p.Asn4162=)
n.3729C>T
c.12588C>T (p.Asn4196=)
c.12585C>T (p.Asn4195=)
c.12564C>T (p.Asn4188=)
c.12558C>T (p.Asn4186=)
c.12552C>T (p.Asn4184=)
c.12528C>T (p.Asn4176=)
c.12351C>T (p.Asn4117=)
c.12495C>T (p.Asn4165=)
c.12567C>T (p.Asn4189=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.237784247G>ACA39827745RYR2c.*3627G>A (n.*3627G>A)
c.12523G>A (p.Glu4175Lys)
c.12556G>A (p.Glu4186Lys)
c.4712G>A
c.12535G>A (p.Glu4179Lys)
c.2588G>A
c.12487G>A (p.Glu4163Lys)
n.3730G>A
c.12589G>A (p.Glu4197Lys)
c.12586G>A (p.Glu4196Lys)
c.12565G>A (p.Glu4189Lys)
c.12559G>A (p.Glu4187Lys)
c.12553G>A (p.Glu4185Lys)
c.12529G>A (p.Glu4177Lys)
c.12352G>A (p.Glu4118Lys)
c.12496G>A (p.Glu4166Lys)
c.12568G>A (p.Glu4190Lys)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
1g.237784247G>CCA345413569RYR2c.*3627G>C (n.*3627G>C)
c.12523G>C (p.Glu4175Gln)
c.12556G>C (p.Glu4186Gln)
c.4712G>C
c.12535G>C (p.Glu4179Gln)
c.2588G>C
c.12487G>C (p.Glu4163Gln)
n.3730G>C
c.12589G>C (p.Glu4197Gln)
c.12586G>C (p.Glu4196Gln)
c.12565G>C (p.Glu4189Gln)
c.12559G>C (p.Glu4187Gln)
c.12553G>C (p.Glu4185Gln)
c.12529G>C (p.Glu4177Gln)
c.12352G>C (p.Glu4118Gln)
c.12496G>C (p.Glu4166Gln)
c.12568G>C (p.Glu4190Gln)
 gnomAD v4
1g.237784247G=CA2487482443RYR2c.*3627G= (n.*3627G=)
c.12523G= (p.Glu4175=)
c.12556G= (p.Glu4186=)
c.4712G=
c.12535G= (p.Glu4179=)
c.2588G=
c.12487G= (p.Glu4163=)
n.3730G=
c.12589G= (p.Glu4197=)
c.12586G= (p.Glu4196=)
c.12565G= (p.Glu4189=)
c.12559G= (p.Glu4187=)
c.12553G= (p.Glu4185=)
c.12529G= (p.Glu4177=)
c.12352G= (p.Glu4118=)
c.12496G= (p.Glu4166=)
c.12568G= (p.Glu4190=)
1g.237784247G>TCA345413570RYR2c.*3627G>T (n.*3627G>T)
c.12523G>T (p.Glu4175Ter)
c.12556G>T (p.Glu4186Ter)
c.4712G>T
c.12535G>T (p.Glu4179Ter)
c.2588G>T
c.12487G>T (p.Glu4163Ter)
n.3730G>T
c.12589G>T (p.Glu4197Ter)
c.12586G>T (p.Glu4196Ter)
c.12565G>T (p.Glu4189Ter)
c.12559G>T (p.Glu4187Ter)
c.12553G>T (p.Glu4185Ter)
c.12529G>T (p.Glu4177Ter)
c.12352G>T (p.Glu4118Ter)
c.12496G>T (p.Glu4166Ter)
c.12568G>T (p.Glu4190Ter)
1g.237784248A>CCA345413573RYR2c.*3628A>C (n.*3628A>C)
c.12524A>C (p.Glu4175Ala)
c.12557A>C (p.Glu4186Ala)
c.4713A>C
c.12536A>C (p.Glu4179Ala)
c.2589A>C
c.12488A>C (p.Glu4163Ala)
n.3731A>C
c.12590A>C (p.Glu4197Ala)
c.12587A>C (p.Glu4196Ala)
c.12566A>C (p.Glu4189Ala)
c.12560A>C (p.Glu4187Ala)
c.12554A>C (p.Glu4185Ala)
c.12530A>C (p.Glu4177Ala)
c.12353A>C (p.Glu4118Ala)
c.12497A>C (p.Glu4166Ala)
c.12569A>C (p.Glu4190Ala)
1g.237784248A>GCA345413572RYR2c.*3628A>G (n.*3628A>G)
c.12524A>G (p.Glu4175Gly)
c.12557A>G (p.Glu4186Gly)
c.4713A>G
c.12536A>G (p.Glu4179Gly)
c.2589A>G
c.12488A>G (p.Glu4163Gly)
n.3731A>G
c.12590A>G (p.Glu4197Gly)
c.12587A>G (p.Glu4196Gly)
c.12566A>G (p.Glu4189Gly)
c.12560A>G (p.Glu4187Gly)
c.12554A>G (p.Glu4185Gly)
c.12530A>G (p.Glu4177Gly)
c.12353A>G (p.Glu4118Gly)
c.12497A>G (p.Glu4166Gly)
c.12569A>G (p.Glu4190Gly)
1g.237784248A>TCA345413571RYR2c.*3628A>T (n.*3628A>T)
c.12524A>T (p.Glu4175Val)
c.12557A>T (p.Glu4186Val)
c.4713A>T
c.12536A>T (p.Glu4179Val)
c.2589A>T
c.12488A>T (p.Glu4163Val)
n.3731A>T
c.12590A>T (p.Glu4197Val)
c.12587A>T (p.Glu4196Val)
c.12566A>T (p.Glu4189Val)
c.12560A>T (p.Glu4187Val)
c.12554A>T (p.Glu4185Val)
c.12530A>T (p.Glu4177Val)
c.12353A>T (p.Glu4118Val)
c.12497A>T (p.Glu4166Val)
c.12569A>T (p.Glu4190Val)
1g.237784249A>CCA345413574RYR2c.*3629A>C (n.*3629A>C)
c.12525A>C (p.Glu4175Asp)
c.12558A>C (p.Glu4186Asp)
c.4714A>C
c.12537A>C (p.Glu4179Asp)
c.2590A>C
c.12489A>C (p.Glu4163Asp)
n.3732A>C
c.12591A>C (p.Glu4197Asp)
c.12588A>C (p.Glu4196Asp)
c.12567A>C (p.Glu4189Asp)
c.12561A>C (p.Glu4187Asp)
c.12555A>C (p.Glu4185Asp)
c.12531A>C (p.Glu4177Asp)
c.12354A>C (p.Glu4118Asp)
c.12498A>C (p.Glu4166Asp)
c.12570A>C (p.Glu4190Asp)
1g.237784249A>GCA066495RYR2c.*3629A>G (n.*3629A>G)
c.12525A>G (p.Glu4175=)
c.12558A>G (p.Glu4186=)
c.4714A>G
c.12537A>G (p.Glu4179=)
c.2590A>G
c.12489A>G (p.Glu4163=)
n.3732A>G
c.12591A>G (p.Glu4197=)
c.12588A>G (p.Glu4196=)
c.12567A>G (p.Glu4189=)
c.12561A>G (p.Glu4187=)
c.12555A>G (p.Glu4185=)
c.12531A>G (p.Glu4177=)
c.12354A>G (p.Glu4118=)
c.12498A>G (p.Glu4166=)
c.12570A>G (p.Glu4190=)
1g.237784249A>TCA345413575RYR2c.*3629A>T (n.*3629A>T)
c.12525A>T (p.Glu4175Asp)
c.12558A>T (p.Glu4186Asp)
c.4714A>T
c.12537A>T (p.Glu4179Asp)
c.2590A>T
c.12489A>T (p.Glu4163Asp)
n.3732A>T
c.12591A>T (p.Glu4197Asp)
c.12588A>T (p.Glu4196Asp)
c.12567A>T (p.Glu4189Asp)
c.12561A>T (p.Glu4187Asp)
c.12555A>T (p.Glu4185Asp)
c.12531A>T (p.Glu4177Asp)
c.12354A>T (p.Glu4118Asp)
c.12498A>T (p.Glu4166Asp)
c.12570A>T (p.Glu4190Asp)
1g.237784250G>ACA345413576RYR2c.*3630G>A (n.*3630G>A)
c.12526G>A (p.Gly4176Ser)
c.12559G>A (p.Gly4187Ser)
c.4715G>A
c.12538G>A (p.Gly4180Ser)
c.2591G>A
c.12490G>A (p.Gly4164Ser)
n.3733G>A
c.12592G>A (p.Gly4198Ser)
c.12589G>A (p.Gly4197Ser)
c.12568G>A (p.Gly4190Ser)
c.12562G>A (p.Gly4188Ser)
c.12556G>A (p.Gly4186Ser)
c.12532G>A (p.Gly4178Ser)
c.12355G>A (p.Gly4119Ser)
c.12499G>A (p.Gly4167Ser)
c.12571G>A (p.Gly4191Ser)
1g.237784250G>CCA085194RYR2c.*3630G>C (n.*3630G>C)
c.12526G>C (p.Gly4176Arg)
c.12559G>C (p.Gly4187Arg)
c.4715G>C
c.12538G>C (p.Gly4180Arg)
c.2591G>C
c.12490G>C (p.Gly4164Arg)
n.3733G>C
c.12592G>C (p.Gly4198Arg)
c.12589G>C (p.Gly4197Arg)
c.12568G>C (p.Gly4190Arg)
c.12562G>C (p.Gly4188Arg)
c.12556G>C (p.Gly4186Arg)
c.12532G>C (p.Gly4178Arg)
c.12355G>C (p.Gly4119Arg)
c.12499G>C (p.Gly4167Arg)
c.12571G>C (p.Gly4191Arg)
 dbSNP ExAC
1g.237784250G=CA1148267802RYR2c.*3630G= (n.*3630G=)
c.12526G= (p.Gly4176=)
c.12559G= (p.Gly4187=)
c.4715G=
c.12538G= (p.Gly4180=)
c.2591G=
c.12490G= (p.Gly4164=)
n.3733G=
c.12592G= (p.Gly4198=)
c.12589G= (p.Gly4197=)
c.12568G= (p.Gly4190=)
c.12562G= (p.Gly4188=)
c.12556G= (p.Gly4186=)
c.12532G= (p.Gly4178=)
c.12355G= (p.Gly4119=)
c.12499G= (p.Gly4167=)
c.12571G= (p.Gly4191=)
1g.237784250G>TCA345413577RYR2c.*3630G>T (n.*3630G>T)
c.12526G>T (p.Gly4176Cys)
c.12559G>T (p.Gly4187Cys)
c.4715G>T
c.12538G>T (p.Gly4180Cys)
c.2591G>T
c.12490G>T (p.Gly4164Cys)
n.3733G>T
c.12592G>T (p.Gly4198Cys)
c.12589G>T (p.Gly4197Cys)
c.12568G>T (p.Gly4190Cys)
c.12562G>T (p.Gly4188Cys)
c.12556G>T (p.Gly4186Cys)
c.12532G>T (p.Gly4178Cys)
c.12355G>T (p.Gly4119Cys)
c.12499G>T (p.Gly4167Cys)
c.12571G>T (p.Gly4191Cys)
 COSMIC COSMIC

Number of alleles fetched