Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.237784122A>CCA345413154RYR2c.*3502A>C (n.*3502A>C)
c.12398A>C (p.Glu4133Ala)
c.12431A>C (p.Glu4144Ala)
c.4587A>C
c.12410A>C (p.Glu4137Ala)
c.2463A>C
c.12362A>C (p.Glu4121Ala)
n.3605A>C
c.12464A>C (p.Glu4155Ala)
c.12461A>C (p.Glu4154Ala)
c.12440A>C (p.Glu4147Ala)
c.12434A>C (p.Glu4145Ala)
c.12428A>C (p.Glu4143Ala)
c.12404A>C (p.Glu4135Ala)
c.12227A>C (p.Glu4076Ala)
c.12371A>C (p.Glu4124Ala)
c.12443A>C (p.Glu4148Ala)
1g.237784122A>GCA345413155RYR2c.*3502A>G (n.*3502A>G)
c.12398A>G (p.Glu4133Gly)
c.12431A>G (p.Glu4144Gly)
c.4587A>G
c.12410A>G (p.Glu4137Gly)
c.2463A>G
c.12362A>G (p.Glu4121Gly)
n.3605A>G
c.12464A>G (p.Glu4155Gly)
c.12461A>G (p.Glu4154Gly)
c.12440A>G (p.Glu4147Gly)
c.12434A>G (p.Glu4145Gly)
c.12428A>G (p.Glu4143Gly)
c.12404A>G (p.Glu4135Gly)
c.12227A>G (p.Glu4076Gly)
c.12371A>G (p.Glu4124Gly)
c.12443A>G (p.Glu4148Gly)
1g.237784122A>TCA345413157RYR2c.*3502A>T (n.*3502A>T)
c.12398A>T (p.Glu4133Val)
c.12431A>T (p.Glu4144Val)
c.4587A>T
c.12410A>T (p.Glu4137Val)
c.2463A>T
c.12362A>T (p.Glu4121Val)
n.3605A>T
c.12464A>T (p.Glu4155Val)
c.12461A>T (p.Glu4154Val)
c.12440A>T (p.Glu4147Val)
c.12434A>T (p.Glu4145Val)
c.12428A>T (p.Glu4143Val)
c.12404A>T (p.Glu4135Val)
c.12227A>T (p.Glu4076Val)
c.12371A>T (p.Glu4124Val)
c.12443A>T (p.Glu4148Val)
1g.237784123A>CCA345413158RYR2c.*3503A>C (n.*3503A>C)
c.12399A>C (p.Glu4133Asp)
c.12432A>C (p.Glu4144Asp)
c.4588A>C
c.12411A>C (p.Glu4137Asp)
c.2464A>C
c.12363A>C (p.Glu4121Asp)
n.3606A>C
c.12465A>C (p.Glu4155Asp)
c.12462A>C (p.Glu4154Asp)
c.12441A>C (p.Glu4147Asp)
c.12435A>C (p.Glu4145Asp)
c.12429A>C (p.Glu4143Asp)
c.12405A>C (p.Glu4135Asp)
c.12228A>C (p.Glu4076Asp)
c.12372A>C (p.Glu4124Asp)
c.12444A>C (p.Glu4148Asp)
1g.237784123A>GCA424032154RYR2c.*3503A>G (n.*3503A>G)
c.12399A>G (p.Glu4133=)
c.12432A>G (p.Glu4144=)
c.4588A>G
c.12411A>G (p.Glu4137=)
c.2464A>G
c.12363A>G (p.Glu4121=)
n.3606A>G
c.12465A>G (p.Glu4155=)
c.12462A>G (p.Glu4154=)
c.12441A>G (p.Glu4147=)
c.12435A>G (p.Glu4145=)
c.12429A>G (p.Glu4143=)
c.12405A>G (p.Glu4135=)
c.12228A>G (p.Glu4076=)
c.12372A>G (p.Glu4124=)
c.12444A>G (p.Glu4148=)
1g.237784123A>TCA345413159RYR2c.*3503A>T (n.*3503A>T)
c.12399A>T (p.Glu4133Asp)
c.12432A>T (p.Glu4144Asp)
c.4588A>T
c.12411A>T (p.Glu4137Asp)
c.2464A>T
c.12363A>T (p.Glu4121Asp)
n.3606A>T
c.12465A>T (p.Glu4155Asp)
c.12462A>T (p.Glu4154Asp)
c.12441A>T (p.Glu4147Asp)
c.12435A>T (p.Glu4145Asp)
c.12429A>T (p.Glu4143Asp)
c.12405A>T (p.Glu4135Asp)
c.12228A>T (p.Glu4076Asp)
c.12372A>T (p.Glu4124Asp)
c.12444A>T (p.Glu4148Asp)
1g.237784124A>CCA345413162RYR2c.*3504A>C (n.*3504A>C)
c.12400A>C (p.Ile4134Leu)
c.12433A>C (p.Ile4145Leu)
c.4589A>C
c.12412A>C (p.Ile4138Leu)
c.2465A>C
c.12364A>C (p.Ile4122Leu)
n.3607A>C
c.12466A>C (p.Ile4156Leu)
c.12463A>C (p.Ile4155Leu)
c.12442A>C (p.Ile4148Leu)
c.12436A>C (p.Ile4146Leu)
c.12430A>C (p.Ile4144Leu)
c.12406A>C (p.Ile4136Leu)
c.12229A>C (p.Ile4077Leu)
c.12373A>C (p.Ile4125Leu)
c.12445A>C (p.Ile4149Leu)
1g.237784124A>GCA345413163RYR2c.*3504A>G (n.*3504A>G)
c.12400A>G (p.Ile4134Val)
c.12433A>G (p.Ile4145Val)
c.4589A>G
c.12412A>G (p.Ile4138Val)
c.2465A>G
c.12364A>G (p.Ile4122Val)
n.3607A>G
c.12466A>G (p.Ile4156Val)
c.12463A>G (p.Ile4155Val)
c.12442A>G (p.Ile4148Val)
c.12436A>G (p.Ile4146Val)
c.12430A>G (p.Ile4144Val)
c.12406A>G (p.Ile4136Val)
c.12229A>G (p.Ile4077Val)
c.12373A>G (p.Ile4125Val)
c.12445A>G (p.Ile4149Val)
1g.237784124A>TCA345413161RYR2c.*3504A>T (n.*3504A>T)
c.12400A>T (p.Ile4134Phe)
c.12433A>T (p.Ile4145Phe)
c.4589A>T
c.12412A>T (p.Ile4138Phe)
c.2465A>T
c.12364A>T (p.Ile4122Phe)
n.3607A>T
c.12466A>T (p.Ile4156Phe)
c.12463A>T (p.Ile4155Phe)
c.12442A>T (p.Ile4148Phe)
c.12436A>T (p.Ile4146Phe)
c.12430A>T (p.Ile4144Phe)
c.12406A>T (p.Ile4136Phe)
c.12229A>T (p.Ile4077Phe)
c.12373A>T (p.Ile4125Phe)
c.12445A>T (p.Ile4149Phe)
1g.237784125T>ACA345413164RYR2c.*3505T>A (n.*3505T>A)
c.12401T>A (p.Ile4134Asn)
c.12434T>A (p.Ile4145Asn)
c.4590T>A
c.12413T>A (p.Ile4138Asn)
c.2466T>A
c.12365T>A (p.Ile4122Asn)
n.3608T>A
c.12467T>A (p.Ile4156Asn)
c.12464T>A (p.Ile4155Asn)
c.12443T>A (p.Ile4148Asn)
c.12437T>A (p.Ile4146Asn)
c.12431T>A (p.Ile4144Asn)
c.12407T>A (p.Ile4136Asn)
c.12230T>A (p.Ile4077Asn)
c.12374T>A (p.Ile4125Asn)
c.12446T>A (p.Ile4149Asn)
1g.237784125T>CCA345413166RYR2c.*3505T>C (n.*3505T>C)
c.12401T>C (p.Ile4134Thr)
c.12434T>C (p.Ile4145Thr)
c.4590T>C
c.12413T>C (p.Ile4138Thr)
c.2466T>C
c.12365T>C (p.Ile4122Thr)
n.3608T>C
c.12467T>C (p.Ile4156Thr)
c.12464T>C (p.Ile4155Thr)
c.12443T>C (p.Ile4148Thr)
c.12437T>C (p.Ile4146Thr)
c.12431T>C (p.Ile4144Thr)
c.12407T>C (p.Ile4136Thr)
c.12230T>C (p.Ile4077Thr)
c.12374T>C (p.Ile4125Thr)
c.12446T>C (p.Ile4149Thr)
1g.237784125T>GCA345413169RYR2c.*3505T>G (n.*3505T>G)
c.12401T>G (p.Ile4134Ser)
c.12434T>G (p.Ile4145Ser)
c.4590T>G
c.12413T>G (p.Ile4138Ser)
c.2466T>G
c.12365T>G (p.Ile4122Ser)
n.3608T>G
c.12467T>G (p.Ile4156Ser)
c.12464T>G (p.Ile4155Ser)
c.12443T>G (p.Ile4148Ser)
c.12437T>G (p.Ile4146Ser)
c.12431T>G (p.Ile4144Ser)
c.12407T>G (p.Ile4136Ser)
c.12230T>G (p.Ile4077Ser)
c.12374T>G (p.Ile4125Ser)
c.12446T>G (p.Ile4149Ser)
1g.237784126C>ACA424032155RYR2c.*3506C>A (n.*3506C>A)
c.12402C>A (p.Ile4134=)
c.12435C>A (p.Ile4145=)
c.4591C>A
c.12414C>A (p.Ile4138=)
c.2467C>A
c.12366C>A (p.Ile4122=)
n.3609C>A
c.12468C>A (p.Ile4156=)
c.12465C>A (p.Ile4155=)
c.12444C>A (p.Ile4148=)
c.12438C>A (p.Ile4146=)
c.12432C>A (p.Ile4144=)
c.12408C>A (p.Ile4136=)
c.12231C>A (p.Ile4077=)
c.12375C>A (p.Ile4125=)
c.12447C>A (p.Ile4149=)
1g.237784126C>GCA345413170RYR2c.*3506C>G (n.*3506C>G)
c.12402C>G (p.Ile4134Met)
c.12435C>G (p.Ile4145Met)
c.4591C>G
c.12414C>G (p.Ile4138Met)
c.2467C>G
c.12366C>G (p.Ile4122Met)
n.3609C>G
c.12468C>G (p.Ile4156Met)
c.12465C>G (p.Ile4155Met)
c.12444C>G (p.Ile4148Met)
c.12438C>G (p.Ile4146Met)
c.12432C>G (p.Ile4144Met)
c.12408C>G (p.Ile4136Met)
c.12231C>G (p.Ile4077Met)
c.12375C>G (p.Ile4125Met)
c.12447C>G (p.Ile4149Met)
1g.237784126C>TCA424032156RYR2c.*3506C>T (n.*3506C>T)
c.12402C>T (p.Ile4134=)
c.12435C>T (p.Ile4145=)
c.4591C>T
c.12414C>T (p.Ile4138=)
c.2467C>T
c.12366C>T (p.Ile4122=)
n.3609C>T
c.12468C>T (p.Ile4156=)
c.12465C>T (p.Ile4155=)
c.12444C>T (p.Ile4148=)
c.12438C>T (p.Ile4146=)
c.12432C>T (p.Ile4144=)
c.12408C>T (p.Ile4136=)
c.12231C>T (p.Ile4077=)
c.12375C>T (p.Ile4125=)
c.12447C>T (p.Ile4149=)
1g.237784127A=CA2487482393RYR2c.*3507A= (n.*3507A=)
c.12403A= (p.Met4135=)
c.12436A= (p.Met4146=)
c.4592A=
c.12415A= (p.Met4139=)
c.2468A=
c.12367A= (p.Met4123=)
n.3610A=
c.12469A= (p.Met4157=)
c.12466A= (p.Met4156=)
c.12445A= (p.Met4149=)
c.12439A= (p.Met4147=)
c.12433A= (p.Met4145=)
c.12409A= (p.Met4137=)
c.12232A= (p.Met4078=)
c.12376A= (p.Met4126=)
c.12448A= (p.Met4150=)
1g.237784127A>CCA345413175RYR2c.*3507A>C (n.*3507A>C)
c.12403A>C (p.Met4135Leu)
c.12436A>C (p.Met4146Leu)
c.4592A>C
c.12415A>C (p.Met4139Leu)
c.2468A>C
c.12367A>C (p.Met4123Leu)
n.3610A>C
c.12469A>C (p.Met4157Leu)
c.12466A>C (p.Met4156Leu)
c.12445A>C (p.Met4149Leu)
c.12439A>C (p.Met4147Leu)
c.12433A>C (p.Met4145Leu)
c.12409A>C (p.Met4137Leu)
c.12232A>C (p.Met4078Leu)
c.12376A>C (p.Met4126Leu)
c.12448A>C (p.Met4150Leu)
1g.237784127A>GCA345413174RYR2c.*3507A>G (n.*3507A>G)
c.12403A>G (p.Met4135Val)
c.12436A>G (p.Met4146Val)
c.4592A>G
c.12415A>G (p.Met4139Val)
c.2468A>G
c.12367A>G (p.Met4123Val)
n.3610A>G
c.12469A>G (p.Met4157Val)
c.12466A>G (p.Met4156Val)
c.12445A>G (p.Met4149Val)
c.12439A>G (p.Met4147Val)
c.12433A>G (p.Met4145Val)
c.12409A>G (p.Met4137Val)
c.12232A>G (p.Met4078Val)
c.12376A>G (p.Met4126Val)
c.12448A>G (p.Met4150Val)
 ClinVar dbSNP gnomAD v4
1g.237784127A>TCA345413171RYR2c.*3507A>T (n.*3507A>T)
c.12403A>T (p.Met4135Leu)
c.12436A>T (p.Met4146Leu)
c.4592A>T
c.12415A>T (p.Met4139Leu)
c.2468A>T
c.12367A>T (p.Met4123Leu)
n.3610A>T
c.12469A>T (p.Met4157Leu)
c.12466A>T (p.Met4156Leu)
c.12445A>T (p.Met4149Leu)
c.12439A>T (p.Met4147Leu)
c.12433A>T (p.Met4145Leu)
c.12409A>T (p.Met4137Leu)
c.12232A>T (p.Met4078Leu)
c.12376A>T (p.Met4126Leu)
c.12448A>T (p.Met4150Leu)
1g.237784128T>ACA345413177RYR2c.*3508T>A (n.*3508T>A)
c.12404T>A (p.Met4135Lys)
c.12437T>A (p.Met4146Lys)
c.4593T>A
c.12416T>A (p.Met4139Lys)
c.2469T>A
c.12368T>A (p.Met4123Lys)
n.3611T>A
c.12470T>A (p.Met4157Lys)
c.12467T>A (p.Met4156Lys)
c.12446T>A (p.Met4149Lys)
c.12440T>A (p.Met4147Lys)
c.12434T>A (p.Met4145Lys)
c.12410T>A (p.Met4137Lys)
c.12233T>A (p.Met4078Lys)
c.12377T>A (p.Met4126Lys)
c.12449T>A (p.Met4150Lys)
1g.237784128T>CCA085180RYR2c.*3508T>C (n.*3508T>C)
c.12404T>C (p.Met4135Thr)
c.12437T>C (p.Met4146Thr)
c.4593T>C
c.12416T>C (p.Met4139Thr)
c.2469T>C
c.12368T>C (p.Met4123Thr)
n.3611T>C
c.12470T>C (p.Met4157Thr)
c.12467T>C (p.Met4156Thr)
c.12446T>C (p.Met4149Thr)
c.12440T>C (p.Met4147Thr)
c.12434T>C (p.Met4145Thr)
c.12410T>C (p.Met4137Thr)
c.12233T>C (p.Met4078Thr)
c.12377T>C (p.Met4126Thr)
c.12449T>C (p.Met4150Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.237784128T>GCA345413179RYR2c.*3508T>G (n.*3508T>G)
c.12404T>G (p.Met4135Arg)
c.12437T>G (p.Met4146Arg)
c.4593T>G
c.12416T>G (p.Met4139Arg)
c.2469T>G
c.12368T>G (p.Met4123Arg)
n.3611T>G
c.12470T>G (p.Met4157Arg)
c.12467T>G (p.Met4156Arg)
c.12446T>G (p.Met4149Arg)
c.12440T>G (p.Met4147Arg)
c.12434T>G (p.Met4145Arg)
c.12410T>G (p.Met4137Arg)
c.12233T>G (p.Met4078Arg)
c.12377T>G (p.Met4126Arg)
c.12449T>G (p.Met4150Arg)
1g.237784128T=CA2487482394RYR2c.*3508T= (n.*3508T=)
c.12404T= (p.Met4135=)
c.12437T= (p.Met4146=)
c.4593T=
c.12416T= (p.Met4139=)
c.2469T=
c.12368T= (p.Met4123=)
n.3611T=
c.12470T= (p.Met4157=)
c.12467T= (p.Met4156=)
c.12446T= (p.Met4149=)
c.12440T= (p.Met4147=)
c.12434T= (p.Met4145=)
c.12410T= (p.Met4137=)
c.12233T= (p.Met4078=)
c.12377T= (p.Met4126=)
c.12449T= (p.Met4150=)
1g.237784129G>ACA345413181RYR2c.*3509G>A (n.*3509G>A)
c.12405G>A (p.Met4135Ile)
c.12438G>A (p.Met4146Ile)
c.4594G>A
c.12417G>A (p.Met4139Ile)
c.2470G>A
c.12369G>A (p.Met4123Ile)
n.3612G>A
c.12471G>A (p.Met4157Ile)
c.12468G>A (p.Met4156Ile)
c.12447G>A (p.Met4149Ile)
c.12441G>A (p.Met4147Ile)
c.12435G>A (p.Met4145Ile)
c.12411G>A (p.Met4137Ile)
c.12234G>A (p.Met4078Ile)
c.12378G>A (p.Met4126Ile)
c.12450G>A (p.Met4150Ile)
1g.237784129G>CCA345413183RYR2c.*3509G>C (n.*3509G>C)
c.12405G>C (p.Met4135Ile)
c.12438G>C (p.Met4146Ile)
c.4594G>C
c.12417G>C (p.Met4139Ile)
c.2470G>C
c.12369G>C (p.Met4123Ile)
n.3612G>C
c.12471G>C (p.Met4157Ile)
c.12468G>C (p.Met4156Ile)
c.12447G>C (p.Met4149Ile)
c.12441G>C (p.Met4147Ile)
c.12435G>C (p.Met4145Ile)
c.12411G>C (p.Met4137Ile)
c.12234G>C (p.Met4078Ile)
c.12378G>C (p.Met4126Ile)
c.12450G>C (p.Met4150Ile)
1g.237784129G>TCA345413185RYR2c.*3509G>T (n.*3509G>T)
c.12405G>T (p.Met4135Ile)
c.12438G>T (p.Met4146Ile)
c.4594G>T
c.12417G>T (p.Met4139Ile)
c.2470G>T
c.12369G>T (p.Met4123Ile)
n.3612G>T
c.12471G>T (p.Met4157Ile)
c.12468G>T (p.Met4156Ile)
c.12447G>T (p.Met4149Ile)
c.12441G>T (p.Met4147Ile)
c.12435G>T (p.Met4145Ile)
c.12411G>T (p.Met4137Ile)
c.12234G>T (p.Met4078Ile)
c.12378G>T (p.Met4126Ile)
c.12450G>T (p.Met4150Ile)
1g.237784131delCA2651213124RYR2c.*3511del (n.*3511del)
c.12407del (p.Gly4136GlufsTer?)
c.12440del (p.Gly4147GlufsTer?)
c.4596del
c.12419del (p.Gly4140GlufsTer?)
c.2472del
c.12371del (p.Gly4124GlufsTer?)
n.3614del
c.12473del (p.Gly4158GlufsTer?)
c.12470del (p.Gly4157GlufsTer?)
c.12449del (p.Gly4150GlufsTer?)
c.12443del (p.Gly4148GlufsTer?)
c.12437del (p.Gly4146GlufsTer?)
c.12413del (p.Gly4138GlufsTer?)
c.12236del (p.Gly4079GlufsTer?)
c.12380del (p.Gly4127GlufsTer?)
c.12452del (p.Gly4151GlufsTer?)
 gnomAD v4
1g.237784130G>ACA345413186RYR2c.*3510G>A (n.*3510G>A)
c.12406G>A (p.Gly4136Arg)
c.12439G>A (p.Gly4147Arg)
c.4595G>A
c.12418G>A (p.Gly4140Arg)
c.2471G>A
c.12370G>A (p.Gly4124Arg)
n.3613G>A
c.12472G>A (p.Gly4158Arg)
c.12469G>A (p.Gly4157Arg)
c.12448G>A (p.Gly4150Arg)
c.12442G>A (p.Gly4148Arg)
c.12436G>A (p.Gly4146Arg)
c.12412G>A (p.Gly4138Arg)
c.12235G>A (p.Gly4079Arg)
c.12379G>A (p.Gly4127Arg)
c.12451G>A (p.Gly4151Arg)
1g.237784130G>CCA345413190RYR2c.*3510G>C (n.*3510G>C)
c.12406G>C (p.Gly4136Arg)
c.12439G>C (p.Gly4147Arg)
c.4595G>C
c.12418G>C (p.Gly4140Arg)
c.2471G>C
c.12370G>C (p.Gly4124Arg)
n.3613G>C
c.12472G>C (p.Gly4158Arg)
c.12469G>C (p.Gly4157Arg)
c.12448G>C (p.Gly4150Arg)
c.12442G>C (p.Gly4148Arg)
c.12436G>C (p.Gly4146Arg)
c.12412G>C (p.Gly4138Arg)
c.12235G>C (p.Gly4079Arg)
c.12379G>C (p.Gly4127Arg)
c.12451G>C (p.Gly4151Arg)
1g.237784130G>TCA345413188RYR2c.*3510G>T (n.*3510G>T)
c.12406G>T (p.Gly4136Ter)
c.12439G>T (p.Gly4147Ter)
c.4595G>T
c.12418G>T (p.Gly4140Ter)
c.2471G>T
c.12370G>T (p.Gly4124Ter)
n.3613G>T
c.12472G>T (p.Gly4158Ter)
c.12469G>T (p.Gly4157Ter)
c.12448G>T (p.Gly4150Ter)
c.12442G>T (p.Gly4148Ter)
c.12436G>T (p.Gly4146Ter)
c.12412G>T (p.Gly4138Ter)
c.12235G>T (p.Gly4079Ter)
c.12379G>T (p.Gly4127Ter)
c.12451G>T (p.Gly4151Ter)
1g.237784131G>ACA345413192RYR2c.*3511G>A (n.*3511G>A)
c.12407G>A (p.Gly4136Glu)
c.12440G>A (p.Gly4147Glu)
c.4596G>A
c.12419G>A (p.Gly4140Glu)
c.2472G>A
c.12371G>A (p.Gly4124Glu)
n.3614G>A
c.12473G>A (p.Gly4158Glu)
c.12470G>A (p.Gly4157Glu)
c.12449G>A (p.Gly4150Glu)
c.12443G>A (p.Gly4148Glu)
c.12437G>A (p.Gly4146Glu)
c.12413G>A (p.Gly4138Glu)
c.12236G>A (p.Gly4079Glu)
c.12380G>A (p.Gly4127Glu)
c.12452G>A (p.Gly4151Glu)
1g.237784131G>CCA345413193RYR2c.*3511G>C (n.*3511G>C)
c.12407G>C (p.Gly4136Ala)
c.12440G>C (p.Gly4147Ala)
c.4596G>C
c.12419G>C (p.Gly4140Ala)
c.2472G>C
c.12371G>C (p.Gly4124Ala)
n.3614G>C
c.12473G>C (p.Gly4158Ala)
c.12470G>C (p.Gly4157Ala)
c.12449G>C (p.Gly4150Ala)
c.12443G>C (p.Gly4148Ala)
c.12437G>C (p.Gly4146Ala)
c.12413G>C (p.Gly4138Ala)
c.12236G>C (p.Gly4079Ala)
c.12380G>C (p.Gly4127Ala)
c.12452G>C (p.Gly4151Ala)
 ClinVar
1g.237784131G>TCA345413195RYR2c.*3511G>T (n.*3511G>T)
c.12407G>T (p.Gly4136Val)
c.12440G>T (p.Gly4147Val)
c.4596G>T
c.12419G>T (p.Gly4140Val)
c.2472G>T
c.12371G>T (p.Gly4124Val)
n.3614G>T
c.12473G>T (p.Gly4158Val)
c.12470G>T (p.Gly4157Val)
c.12449G>T (p.Gly4150Val)
c.12443G>T (p.Gly4148Val)
c.12437G>T (p.Gly4146Val)
c.12413G>T (p.Gly4138Val)
c.12236G>T (p.Gly4079Val)
c.12380G>T (p.Gly4127Val)
c.12452G>T (p.Gly4151Val)
1g.237784132A>CCA424032161RYR2c.*3512A>C (n.*3512A>C)
c.12408A>C (p.Gly4136=)
c.12441A>C (p.Gly4147=)
c.4597A>C
c.12420A>C (p.Gly4140=)
c.2473A>C
c.12372A>C (p.Gly4124=)
n.3615A>C
c.12474A>C (p.Gly4158=)
c.12471A>C (p.Gly4157=)
c.12450A>C (p.Gly4150=)
c.12444A>C (p.Gly4148=)
c.12438A>C (p.Gly4146=)
c.12414A>C (p.Gly4138=)
c.12237A>C (p.Gly4079=)
c.12381A>C (p.Gly4127=)
c.12453A>C (p.Gly4151=)
1g.237784132A>GCA424032162RYR2c.*3512A>G (n.*3512A>G)
c.12408A>G (p.Gly4136=)
c.12441A>G (p.Gly4147=)
c.4597A>G
c.12420A>G (p.Gly4140=)
c.2473A>G
c.12372A>G (p.Gly4124=)
n.3615A>G
c.12474A>G (p.Gly4158=)
c.12471A>G (p.Gly4157=)
c.12450A>G (p.Gly4150=)
c.12444A>G (p.Gly4148=)
c.12438A>G (p.Gly4146=)
c.12414A>G (p.Gly4138=)
c.12237A>G (p.Gly4079=)
c.12381A>G (p.Gly4127=)
c.12453A>G (p.Gly4151=)
1g.237784132A>TCA424032163RYR2c.*3512A>T (n.*3512A>T)
c.12408A>T (p.Gly4136=)
c.12441A>T (p.Gly4147=)
c.4597A>T
c.12420A>T (p.Gly4140=)
c.2473A>T
c.12372A>T (p.Gly4124=)
n.3615A>T
c.12474A>T (p.Gly4158=)
c.12471A>T (p.Gly4157=)
c.12450A>T (p.Gly4150=)
c.12444A>T (p.Gly4148=)
c.12438A>T (p.Gly4146=)
c.12414A>T (p.Gly4138=)
c.12237A>T (p.Gly4079=)
c.12381A>T (p.Gly4127=)
c.12453A>T (p.Gly4151=)
1g.237784133A>CCA345413198RYR2c.*3513A>C (n.*3513A>C)
c.12409A>C (p.Ser4137Arg)
c.12442A>C (p.Ser4148Arg)
c.4598A>C
c.12421A>C (p.Ser4141Arg)
c.2474A>C
c.12373A>C (p.Ser4125Arg)
n.3616A>C
c.12475A>C (p.Ser4159Arg)
c.12472A>C (p.Ser4158Arg)
c.12451A>C (p.Ser4151Arg)
c.12445A>C (p.Ser4149Arg)
c.12439A>C (p.Ser4147Arg)
c.12415A>C (p.Ser4139Arg)
c.12238A>C (p.Ser4080Arg)
c.12382A>C (p.Ser4128Arg)
c.12454A>C (p.Ser4152Arg)
1g.237784133A>GCA345413199RYR2c.*3513A>G (n.*3513A>G)
c.12409A>G (p.Ser4137Gly)
c.12442A>G (p.Ser4148Gly)
c.4598A>G
c.12421A>G (p.Ser4141Gly)
c.2474A>G
c.12373A>G (p.Ser4125Gly)
n.3616A>G
c.12475A>G (p.Ser4159Gly)
c.12472A>G (p.Ser4158Gly)
c.12451A>G (p.Ser4151Gly)
c.12445A>G (p.Ser4149Gly)
c.12439A>G (p.Ser4147Gly)
c.12415A>G (p.Ser4139Gly)
c.12238A>G (p.Ser4080Gly)
c.12382A>G (p.Ser4128Gly)
c.12454A>G (p.Ser4152Gly)
1g.237784133A>TCA345413201RYR2c.*3513A>T (n.*3513A>T)
c.12409A>T (p.Ser4137Cys)
c.12442A>T (p.Ser4148Cys)
c.4598A>T
c.12421A>T (p.Ser4141Cys)
c.2474A>T
c.12373A>T (p.Ser4125Cys)
n.3616A>T
c.12475A>T (p.Ser4159Cys)
c.12472A>T (p.Ser4158Cys)
c.12451A>T (p.Ser4151Cys)
c.12445A>T (p.Ser4149Cys)
c.12439A>T (p.Ser4147Cys)
c.12415A>T (p.Ser4139Cys)
c.12238A>T (p.Ser4080Cys)
c.12382A>T (p.Ser4128Cys)
c.12454A>T (p.Ser4152Cys)
1g.237784134G>ACA345413203RYR2c.*3514G>A (n.*3514G>A)
c.12410G>A (p.Ser4137Asn)
c.12443G>A (p.Ser4148Asn)
c.4599G>A
c.12422G>A (p.Ser4141Asn)
c.2475G>A
c.12374G>A (p.Ser4125Asn)
n.3617G>A
c.12476G>A (p.Ser4159Asn)
c.12473G>A (p.Ser4158Asn)
c.12452G>A (p.Ser4151Asn)
c.12446G>A (p.Ser4149Asn)
c.12440G>A (p.Ser4147Asn)
c.12416G>A (p.Ser4139Asn)
c.12239G>A (p.Ser4080Asn)
c.12383G>A (p.Ser4128Asn)
c.12455G>A (p.Ser4152Asn)
1g.237784134G>CCA345413205RYR2c.*3514G>C (n.*3514G>C)
c.12410G>C (p.Ser4137Thr)
c.12443G>C (p.Ser4148Thr)
c.4599G>C
c.12422G>C (p.Ser4141Thr)
c.2475G>C
c.12374G>C (p.Ser4125Thr)
n.3617G>C
c.12476G>C (p.Ser4159Thr)
c.12473G>C (p.Ser4158Thr)
c.12452G>C (p.Ser4151Thr)
c.12446G>C (p.Ser4149Thr)
c.12440G>C (p.Ser4147Thr)
c.12416G>C (p.Ser4139Thr)
c.12239G>C (p.Ser4080Thr)
c.12383G>C (p.Ser4128Thr)
c.12455G>C (p.Ser4152Thr)
1g.237784134G>TCA345413206RYR2c.*3514G>T (n.*3514G>T)
c.12410G>T (p.Ser4137Ile)
c.12443G>T (p.Ser4148Ile)
c.4599G>T
c.12422G>T (p.Ser4141Ile)
c.2475G>T
c.12374G>T (p.Ser4125Ile)
n.3617G>T
c.12476G>T (p.Ser4159Ile)
c.12473G>T (p.Ser4158Ile)
c.12452G>T (p.Ser4151Ile)
c.12446G>T (p.Ser4149Ile)
c.12440G>T (p.Ser4147Ile)
c.12416G>T (p.Ser4139Ile)
c.12239G>T (p.Ser4080Ile)
c.12383G>T (p.Ser4128Ile)
c.12455G>T (p.Ser4152Ile)
1g.237784135C>ACA345413208RYR2c.*3515C>A (n.*3515C>A)
c.12411C>A (p.Ser4137Arg)
c.12444C>A (p.Ser4148Arg)
c.4600C>A
c.12423C>A (p.Ser4141Arg)
c.2476C>A
c.12375C>A (p.Ser4125Arg)
n.3618C>A
c.12477C>A (p.Ser4159Arg)
c.12474C>A (p.Ser4158Arg)
c.12453C>A (p.Ser4151Arg)
c.12447C>A (p.Ser4149Arg)
c.12441C>A (p.Ser4147Arg)
c.12417C>A (p.Ser4139Arg)
c.12240C>A (p.Ser4080Arg)
c.12384C>A (p.Ser4128Arg)
c.12456C>A (p.Ser4152Arg)
1g.237784135C=CA2487482395RYR2c.*3515C= (n.*3515C=)
c.12411C= (p.Ser4137=)
c.12444C= (p.Ser4148=)
c.4600C=
c.12423C= (p.Ser4141=)
c.2476C=
c.12375C= (p.Ser4125=)
n.3618C=
c.12477C= (p.Ser4159=)
c.12474C= (p.Ser4158=)
c.12453C= (p.Ser4151=)
c.12447C= (p.Ser4149=)
c.12441C= (p.Ser4147=)
c.12417C= (p.Ser4139=)
c.12240C= (p.Ser4080=)
c.12384C= (p.Ser4128=)
c.12456C= (p.Ser4152=)
1g.237784135C>GCA345413210RYR2c.*3515C>G (n.*3515C>G)
c.12411C>G (p.Ser4137Arg)
c.12444C>G (p.Ser4148Arg)
c.4600C>G
c.12423C>G (p.Ser4141Arg)
c.2476C>G
c.12375C>G (p.Ser4125Arg)
n.3618C>G
c.12477C>G (p.Ser4159Arg)
c.12474C>G (p.Ser4158Arg)
c.12453C>G (p.Ser4151Arg)
c.12447C>G (p.Ser4149Arg)
c.12441C>G (p.Ser4147Arg)
c.12417C>G (p.Ser4139Arg)
c.12240C>G (p.Ser4080Arg)
c.12384C>G (p.Ser4128Arg)
c.12456C>G (p.Ser4152Arg)
1g.237784135C>TCA39827599RYR2c.*3515C>T (n.*3515C>T)
c.12411C>T (p.Ser4137=)
c.12444C>T (p.Ser4148=)
c.4600C>T
c.12423C>T (p.Ser4141=)
c.2476C>T
c.12375C>T (p.Ser4125=)
n.3618C>T
c.12477C>T (p.Ser4159=)
c.12474C>T (p.Ser4158=)
c.12453C>T (p.Ser4151=)
c.12447C>T (p.Ser4149=)
c.12441C>T (p.Ser4147=)
c.12417C>T (p.Ser4139=)
c.12240C>T (p.Ser4080=)
c.12384C>T (p.Ser4128=)
c.12456C>T (p.Ser4152=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
1g.237784136G>ACA085181RYR2c.*3516G>A (n.*3516G>A)
c.12412G>A (p.Ala4138Thr)
c.12445G>A (p.Ala4149Thr)
c.4601G>A
c.12424G>A (p.Ala4142Thr)
c.2477G>A
c.12376G>A (p.Ala4126Thr)
n.3619G>A
c.12478G>A (p.Ala4160Thr)
c.12475G>A (p.Ala4159Thr)
c.12454G>A (p.Ala4152Thr)
c.12448G>A (p.Ala4150Thr)
c.12442G>A (p.Ala4148Thr)
c.12418G>A (p.Ala4140Thr)
c.12241G>A (p.Ala4081Thr)
c.12385G>A (p.Ala4129Thr)
c.12457G>A (p.Ala4153Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.237784136G>CCA345413212RYR2c.*3516G>C (n.*3516G>C)
c.12412G>C (p.Ala4138Pro)
c.12445G>C (p.Ala4149Pro)
c.4601G>C
c.12424G>C (p.Ala4142Pro)
c.2477G>C
c.12376G>C (p.Ala4126Pro)
n.3619G>C
c.12478G>C (p.Ala4160Pro)
c.12475G>C (p.Ala4159Pro)
c.12454G>C (p.Ala4152Pro)
c.12448G>C (p.Ala4150Pro)
c.12442G>C (p.Ala4148Pro)
c.12418G>C (p.Ala4140Pro)
c.12241G>C (p.Ala4081Pro)
c.12385G>C (p.Ala4129Pro)
c.12457G>C (p.Ala4153Pro)
 ClinVar dbSNP
1g.237784136G=CA2487482396RYR2c.*3516G= (n.*3516G=)
c.12412G= (p.Ala4138=)
c.12445G= (p.Ala4149=)
c.4601G=
c.12424G= (p.Ala4142=)
c.2477G=
c.12376G= (p.Ala4126=)
n.3619G=
c.12478G= (p.Ala4160=)
c.12475G= (p.Ala4159=)
c.12454G= (p.Ala4152=)
c.12448G= (p.Ala4150=)
c.12442G= (p.Ala4148=)
c.12418G= (p.Ala4140=)
c.12241G= (p.Ala4081=)
c.12385G= (p.Ala4129=)
c.12457G= (p.Ala4153=)
1g.237784136G>TCA345413213RYR2c.*3516G>T (n.*3516G>T)
c.12412G>T (p.Ala4138Ser)
c.12445G>T (p.Ala4149Ser)
c.4601G>T
c.12424G>T (p.Ala4142Ser)
c.2477G>T
c.12376G>T (p.Ala4126Ser)
n.3619G>T
c.12478G>T (p.Ala4160Ser)
c.12475G>T (p.Ala4159Ser)
c.12454G>T (p.Ala4152Ser)
c.12448G>T (p.Ala4150Ser)
c.12442G>T (p.Ala4148Ser)
c.12418G>T (p.Ala4140Ser)
c.12241G>T (p.Ala4081Ser)
c.12385G>T (p.Ala4129Ser)
c.12457G>T (p.Ala4153Ser)

Number of alleles fetched