Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
1g.237784137C>ACA345413217RYR2c.*3517C>A (n.*3517C>A)
c.12413C>A (p.Ala4138Asp)
c.12446C>A (p.Ala4149Asp)
c.4602C>A
c.12425C>A (p.Ala4142Asp)
c.2478C>A
c.12377C>A (p.Ala4126Asp)
n.3620C>A
c.12479C>A (p.Ala4160Asp)
c.12476C>A (p.Ala4159Asp)
c.12455C>A (p.Ala4152Asp)
c.12449C>A (p.Ala4150Asp)
c.12443C>A (p.Ala4148Asp)
c.12419C>A (p.Ala4140Asp)
c.12242C>A (p.Ala4081Asp)
c.12386C>A (p.Ala4129Asp)
c.12458C>A (p.Ala4153Asp)
1g.237784137C=CA2487482397RYR2c.*3517C= (n.*3517C=)
c.12413C= (p.Ala4138=)
c.12446C= (p.Ala4149=)
c.4602C=
c.12425C= (p.Ala4142=)
c.2478C=
c.12377C= (p.Ala4126=)
n.3620C=
c.12479C= (p.Ala4160=)
c.12476C= (p.Ala4159=)
c.12455C= (p.Ala4152=)
c.12449C= (p.Ala4150=)
c.12443C= (p.Ala4148=)
c.12419C= (p.Ala4140=)
c.12242C= (p.Ala4081=)
c.12386C= (p.Ala4129=)
c.12458C= (p.Ala4153=)
1g.237784137C>GCA345413216RYR2c.*3517C>G (n.*3517C>G)
c.12413C>G (p.Ala4138Gly)
c.12446C>G (p.Ala4149Gly)
c.4602C>G
c.12425C>G (p.Ala4142Gly)
c.2478C>G
c.12377C>G (p.Ala4126Gly)
n.3620C>G
c.12479C>G (p.Ala4160Gly)
c.12476C>G (p.Ala4159Gly)
c.12455C>G (p.Ala4152Gly)
c.12449C>G (p.Ala4150Gly)
c.12443C>G (p.Ala4148Gly)
c.12419C>G (p.Ala4140Gly)
c.12242C>G (p.Ala4081Gly)
c.12386C>G (p.Ala4129Gly)
c.12458C>G (p.Ala4153Gly)
1g.237784137C>TCA085182RYR2c.*3517C>T (n.*3517C>T)
c.12413C>T (p.Ala4138Val)
c.12446C>T (p.Ala4149Val)
c.4602C>T
c.12425C>T (p.Ala4142Val)
c.2478C>T
c.12377C>T (p.Ala4126Val)
n.3620C>T
c.12479C>T (p.Ala4160Val)
c.12476C>T (p.Ala4159Val)
c.12455C>T (p.Ala4152Val)
c.12449C>T (p.Ala4150Val)
c.12443C>T (p.Ala4148Val)
c.12419C>T (p.Ala4140Val)
c.12242C>T (p.Ala4081Val)
c.12386C>T (p.Ala4129Val)
c.12458C>T (p.Ala4153Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
1g.237784138C>ACA424032170RYR2c.*3518C>A (n.*3518C>A)
c.12414C>A (p.Ala4138=)
c.12447C>A (p.Ala4149=)
c.4603C>A
c.12426C>A (p.Ala4142=)
c.2479C>A
c.12378C>A (p.Ala4126=)
n.3621C>A
c.12480C>A (p.Ala4160=)
c.12477C>A (p.Ala4159=)
c.12456C>A (p.Ala4152=)
c.12450C>A (p.Ala4150=)
c.12444C>A (p.Ala4148=)
c.12420C>A (p.Ala4140=)
c.12243C>A (p.Ala4081=)
c.12387C>A (p.Ala4129=)
c.12459C>A (p.Ala4153=)
1g.237784138C=CA2487482398RYR2c.*3518C= (n.*3518C=)
c.12414C= (p.Ala4138=)
c.12447C= (p.Ala4149=)
c.4603C=
c.12426C= (p.Ala4142=)
c.2479C=
c.12378C= (p.Ala4126=)
n.3621C=
c.12480C= (p.Ala4160=)
c.12477C= (p.Ala4159=)
c.12456C= (p.Ala4152=)
c.12450C= (p.Ala4150=)
c.12444C= (p.Ala4148=)
c.12420C= (p.Ala4140=)
c.12243C= (p.Ala4081=)
c.12387C= (p.Ala4129=)
c.12459C= (p.Ala4153=)
1g.237784138C>GCA424032173RYR2c.*3518C>G (n.*3518C>G)
c.12414C>G (p.Ala4138=)
c.12447C>G (p.Ala4149=)
c.4603C>G
c.12426C>G (p.Ala4142=)
c.2479C>G
c.12378C>G (p.Ala4126=)
n.3621C>G
c.12480C>G (p.Ala4160=)
c.12477C>G (p.Ala4159=)
c.12456C>G (p.Ala4152=)
c.12450C>G (p.Ala4150=)
c.12444C>G (p.Ala4148=)
c.12420C>G (p.Ala4140=)
c.12243C>G (p.Ala4081=)
c.12387C>G (p.Ala4129=)
c.12459C>G (p.Ala4153=)
1g.237784138C>TCA424032171RYR2c.*3518C>T (n.*3518C>T)
c.12414C>T (p.Ala4138=)
c.12447C>T (p.Ala4149=)
c.4603C>T
c.12426C>T (p.Ala4142=)
c.2479C>T
c.12378C>T (p.Ala4126=)
n.3621C>T
c.12480C>T (p.Ala4160=)
c.12477C>T (p.Ala4159=)
c.12456C>T (p.Ala4152=)
c.12450C>T (p.Ala4150=)
c.12444C>T (p.Ala4148=)
c.12420C>T (p.Ala4140=)
c.12243C>T (p.Ala4081=)
c.12387C>T (p.Ala4129=)
c.12459C>T (p.Ala4153=)
 ClinVar dbSNP
1g.237784139A=CA2487482399RYR2c.*3519A= (n.*3519A=)
c.12415A= (p.Lys4139=)
c.12448A= (p.Lys4150=)
c.4604A=
c.12427A= (p.Lys4143=)
c.2480A=
c.12379A= (p.Lys4127=)
n.3622A=
c.12481A= (p.Lys4161=)
c.12478A= (p.Lys4160=)
c.12457A= (p.Lys4153=)
c.12451A= (p.Lys4151=)
c.12445A= (p.Lys4149=)
c.12421A= (p.Lys4141=)
c.12244A= (p.Lys4082=)
c.12388A= (p.Lys4130=)
c.12460A= (p.Lys4154=)
1g.237784139A>CCA007522RYR2c.*3519A>C (n.*3519A>C)
c.12415A>C (p.Lys4139Gln)
c.12448A>C (p.Lys4150Gln)
c.4604A>C
c.12427A>C (p.Lys4143Gln)
c.2480A>C
c.12379A>C (p.Lys4127Gln)
n.3622A>C
c.12481A>C (p.Lys4161Gln)
c.12478A>C (p.Lys4160Gln)
c.12457A>C (p.Lys4153Gln)
c.12451A>C (p.Lys4151Gln)
c.12445A>C (p.Lys4149Gln)
c.12421A>C (p.Lys4141Gln)
c.12244A>C (p.Lys4082Gln)
c.12388A>C (p.Lys4130Gln)
c.12460A>C (p.Lys4154Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.237784139A>GCA085183RYR2c.*3519A>G (n.*3519A>G)
c.12415A>G (p.Lys4139Glu)
c.12448A>G (p.Lys4150Glu)
c.4604A>G
c.12427A>G (p.Lys4143Glu)
c.2480A>G
c.12379A>G (p.Lys4127Glu)
n.3622A>G
c.12481A>G (p.Lys4161Glu)
c.12478A>G (p.Lys4160Glu)
c.12457A>G (p.Lys4153Glu)
c.12451A>G (p.Lys4151Glu)
c.12445A>G (p.Lys4149Glu)
c.12421A>G (p.Lys4141Glu)
c.12244A>G (p.Lys4082Glu)
c.12388A>G (p.Lys4130Glu)
c.12460A>G (p.Lys4154Glu)
 dbSNP ExAC gnomAD v2 COSMIC
1g.237784139A>TCA345413219RYR2c.*3519A>T (n.*3519A>T)
c.12415A>T (p.Lys4139Ter)
c.12448A>T (p.Lys4150Ter)
c.4604A>T
c.12427A>T (p.Lys4143Ter)
c.2480A>T
c.12379A>T (p.Lys4127Ter)
n.3622A>T
c.12481A>T (p.Lys4161Ter)
c.12478A>T (p.Lys4160Ter)
c.12457A>T (p.Lys4153Ter)
c.12451A>T (p.Lys4151Ter)
c.12445A>T (p.Lys4149Ter)
c.12421A>T (p.Lys4141Ter)
c.12244A>T (p.Lys4082Ter)
c.12388A>T (p.Lys4130Ter)
c.12460A>T (p.Lys4154Ter)
 dbSNP
1g.237784140A>CCA345413221RYR2c.*3520A>C (n.*3520A>C)
c.12416A>C (p.Lys4139Thr)
c.12449A>C (p.Lys4150Thr)
c.4605A>C
c.12428A>C (p.Lys4143Thr)
c.2481A>C
c.12380A>C (p.Lys4127Thr)
n.3623A>C
c.12482A>C (p.Lys4161Thr)
c.12479A>C (p.Lys4160Thr)
c.12458A>C (p.Lys4153Thr)
c.12452A>C (p.Lys4151Thr)
c.12446A>C (p.Lys4149Thr)
c.12422A>C (p.Lys4141Thr)
c.12245A>C (p.Lys4082Thr)
c.12389A>C (p.Lys4130Thr)
c.12461A>C (p.Lys4154Thr)
 COSMIC COSMIC
1g.237784140A>GCA345413222RYR2c.*3520A>G (n.*3520A>G)
c.12416A>G (p.Lys4139Arg)
c.12449A>G (p.Lys4150Arg)
c.4605A>G
c.12428A>G (p.Lys4143Arg)
c.2481A>G
c.12380A>G (p.Lys4127Arg)
n.3623A>G
c.12482A>G (p.Lys4161Arg)
c.12479A>G (p.Lys4160Arg)
c.12458A>G (p.Lys4153Arg)
c.12452A>G (p.Lys4151Arg)
c.12446A>G (p.Lys4149Arg)
c.12422A>G (p.Lys4141Arg)
c.12245A>G (p.Lys4082Arg)
c.12389A>G (p.Lys4130Arg)
c.12461A>G (p.Lys4154Arg)
1g.237784140A>TCA345413224RYR2c.*3520A>T (n.*3520A>T)
c.12416A>T (p.Lys4139Ile)
c.12449A>T (p.Lys4150Ile)
c.4605A>T
c.12428A>T (p.Lys4143Ile)
c.2481A>T
c.12380A>T (p.Lys4127Ile)
n.3623A>T
c.12482A>T (p.Lys4161Ile)
c.12479A>T (p.Lys4160Ile)
c.12458A>T (p.Lys4153Ile)
c.12452A>T (p.Lys4151Ile)
c.12446A>T (p.Lys4149Ile)
c.12422A>T (p.Lys4141Ile)
c.12245A>T (p.Lys4082Ile)
c.12389A>T (p.Lys4130Ile)
c.12461A>T (p.Lys4154Ile)

Number of alleles fetched