| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237784283A>C | CA345413649 | RYR2 | c.*3663A>C (n.*3663A>C) c.12559A>C (p.Asn4187His) c.12592A>C (p.Asn4198His) c.4748A>C c.12571A>C (p.Asn4191His) c.2624A>C c.12523A>C (p.Asn4175His) n.3766A>C c.12625A>C (p.Asn4209His) c.12622A>C (p.Asn4208His) c.12601A>C (p.Asn4201His) c.12595A>C (p.Asn4199His) c.12589A>C (p.Asn4197His) c.12565A>C (p.Asn4189His) c.12388A>C (p.Asn4130His) c.12532A>C (p.Asn4178His) c.12604A>C (p.Asn4202His) | |
| 1 | g.237784283A>G | CA345413650 | RYR2 | c.*3663A>G (n.*3663A>G) c.12559A>G (p.Asn4187Asp) c.12592A>G (p.Asn4198Asp) c.4748A>G c.12571A>G (p.Asn4191Asp) c.2624A>G c.12523A>G (p.Asn4175Asp) n.3766A>G c.12625A>G (p.Asn4209Asp) c.12622A>G (p.Asn4208Asp) c.12601A>G (p.Asn4201Asp) c.12595A>G (p.Asn4199Asp) c.12589A>G (p.Asn4197Asp) c.12565A>G (p.Asn4189Asp) c.12388A>G (p.Asn4130Asp) c.12532A>G (p.Asn4178Asp) c.12604A>G (p.Asn4202Asp) | ClinVar gnomAD v4 |
| 1 | g.237784283A>T | CA345413651 | RYR2 | c.*3663A>T (n.*3663A>T) c.12559A>T (p.Asn4187Tyr) c.12592A>T (p.Asn4198Tyr) c.4748A>T c.12571A>T (p.Asn4191Tyr) c.2624A>T c.12523A>T (p.Asn4175Tyr) n.3766A>T c.12625A>T (p.Asn4209Tyr) c.12622A>T (p.Asn4208Tyr) c.12601A>T (p.Asn4201Tyr) c.12595A>T (p.Asn4199Tyr) c.12589A>T (p.Asn4197Tyr) c.12565A>T (p.Asn4189Tyr) c.12388A>T (p.Asn4130Tyr) c.12532A>T (p.Asn4178Tyr) c.12604A>T (p.Asn4202Tyr) | |
| 1 | g.237784284dup | CA2697547748 | RYR2 | c.*3664dup (n.*3664dup) c.12560dup (p.Asn4187LysfsTer9) c.12593dup (p.Asn4198LysfsTer9) c.4749dup c.12572dup (p.Asn4191LysfsTer9) c.2625dup c.12524dup (p.Asn4175LysfsTer9) n.3767dup c.12626dup (p.Asn4209LysfsTer9) c.12623dup (p.Asn4208LysfsTer9) c.12602dup (p.Asn4201LysfsTer9) c.12596dup (p.Asn4199LysfsTer9) c.12590dup (p.Asn4197LysfsTer9) c.12566dup (p.Asn4189LysfsTer9) c.12389dup (p.Asn4130LysfsTer9) c.12533dup (p.Asn4178LysfsTer9) c.12605dup (p.Asn4202LysfsTer9) | ClinVar |
| 1 | g.237784284A>C | CA345413653 | RYR2 | c.*3664A>C (n.*3664A>C) c.12560A>C (p.Asn4187Thr) c.12593A>C (p.Asn4198Thr) c.4749A>C c.12572A>C (p.Asn4191Thr) c.2625A>C c.12524A>C (p.Asn4175Thr) n.3767A>C c.12626A>C (p.Asn4209Thr) c.12623A>C (p.Asn4208Thr) c.12602A>C (p.Asn4201Thr) c.12596A>C (p.Asn4199Thr) c.12590A>C (p.Asn4197Thr) c.12566A>C (p.Asn4189Thr) c.12389A>C (p.Asn4130Thr) c.12533A>C (p.Asn4178Thr) c.12605A>C (p.Asn4202Thr) | |
| 1 | g.237784284A>G | CA345413654 | RYR2 | c.*3664A>G (n.*3664A>G) c.12560A>G (p.Asn4187Ser) c.12593A>G (p.Asn4198Ser) c.4749A>G c.12572A>G (p.Asn4191Ser) c.2625A>G c.12524A>G (p.Asn4175Ser) n.3767A>G c.12626A>G (p.Asn4209Ser) c.12623A>G (p.Asn4208Ser) c.12602A>G (p.Asn4201Ser) c.12596A>G (p.Asn4199Ser) c.12590A>G (p.Asn4197Ser) c.12566A>G (p.Asn4189Ser) c.12389A>G (p.Asn4130Ser) c.12533A>G (p.Asn4178Ser) c.12605A>G (p.Asn4202Ser) | |
| 1 | g.237784284A>T | CA345413652 | RYR2 | c.*3664A>T (n.*3664A>T) c.12560A>T (p.Asn4187Ile) c.12593A>T (p.Asn4198Ile) c.4749A>T c.12572A>T (p.Asn4191Ile) c.2625A>T c.12524A>T (p.Asn4175Ile) n.3767A>T c.12626A>T (p.Asn4209Ile) c.12623A>T (p.Asn4208Ile) c.12602A>T (p.Asn4201Ile) c.12596A>T (p.Asn4199Ile) c.12590A>T (p.Asn4197Ile) c.12566A>T (p.Asn4189Ile) c.12389A>T (p.Asn4130Ile) c.12533A>T (p.Asn4178Ile) c.12605A>T (p.Asn4202Ile) | |
| 1 | g.237784285C>A | CA345413656 | RYR2 | c.*3665C>A (n.*3665C>A) c.12561C>A (p.Asn4187Lys) c.12594C>A (p.Asn4198Lys) c.4750C>A c.12573C>A (p.Asn4191Lys) c.2626C>A c.12525C>A (p.Asn4175Lys) n.3768C>A c.12627C>A (p.Asn4209Lys) c.12624C>A (p.Asn4208Lys) c.12603C>A (p.Asn4201Lys) c.12597C>A (p.Asn4199Lys) c.12591C>A (p.Asn4197Lys) c.12567C>A (p.Asn4189Lys) c.12390C>A (p.Asn4130Lys) c.12534C>A (p.Asn4178Lys) c.12606C>A (p.Asn4202Lys) | gnomAD v4 |
| 1 | g.237784285C>G | CA345413655 | RYR2 | c.*3665C>G (n.*3665C>G) c.12561C>G (p.Asn4187Lys) c.12594C>G (p.Asn4198Lys) c.4750C>G c.12573C>G (p.Asn4191Lys) c.2626C>G c.12525C>G (p.Asn4175Lys) n.3768C>G c.12627C>G (p.Asn4209Lys) c.12624C>G (p.Asn4208Lys) c.12603C>G (p.Asn4201Lys) c.12597C>G (p.Asn4199Lys) c.12591C>G (p.Asn4197Lys) c.12567C>G (p.Asn4189Lys) c.12390C>G (p.Asn4130Lys) c.12534C>G (p.Asn4178Lys) c.12606C>G (p.Asn4202Lys) | |
| 1 | g.237784285C>T | CA424032332 | RYR2 | c.*3665C>T (n.*3665C>T) c.12561C>T (p.Asn4187=) c.12594C>T (p.Asn4198=) c.4750C>T c.12573C>T (p.Asn4191=) c.2626C>T c.12525C>T (p.Asn4175=) n.3768C>T c.12627C>T (p.Asn4209=) c.12624C>T (p.Asn4208=) c.12603C>T (p.Asn4201=) c.12597C>T (p.Asn4199=) c.12591C>T (p.Asn4197=) c.12567C>T (p.Asn4189=) c.12390C>T (p.Asn4130=) c.12534C>T (p.Asn4178=) c.12606C>T (p.Asn4202=) | |
| 1 | g.237784286T>A | CA345413658 | RYR2 | c.*3666T>A (n.*3666T>A) c.12562T>A (p.Phe4188Ile) c.12595T>A (p.Phe4199Ile) c.4751T>A c.12574T>A (p.Phe4192Ile) c.2627T>A c.12526T>A (p.Phe4176Ile) n.3769T>A c.12628T>A (p.Phe4210Ile) c.12625T>A (p.Phe4209Ile) c.12604T>A (p.Phe4202Ile) c.12598T>A (p.Phe4200Ile) c.12592T>A (p.Phe4198Ile) c.12568T>A (p.Phe4190Ile) c.12391T>A (p.Phe4131Ile) c.12535T>A (p.Phe4179Ile) c.12607T>A (p.Phe4203Ile) | |
| 1 | g.237784286T>C | CA345413657 | RYR2 | c.*3666T>C (n.*3666T>C) c.12562T>C (p.Phe4188Leu) c.12595T>C (p.Phe4199Leu) c.4751T>C c.12574T>C (p.Phe4192Leu) c.2627T>C c.12526T>C (p.Phe4176Leu) n.3769T>C c.12628T>C (p.Phe4210Leu) c.12625T>C (p.Phe4209Leu) c.12604T>C (p.Phe4202Leu) c.12598T>C (p.Phe4200Leu) c.12592T>C (p.Phe4198Leu) c.12568T>C (p.Phe4190Leu) c.12391T>C (p.Phe4131Leu) c.12535T>C (p.Phe4179Leu) c.12607T>C (p.Phe4203Leu) | |
| 1 | g.237784286T>G | CA345413659 | RYR2 | c.*3666T>G (n.*3666T>G) c.12562T>G (p.Phe4188Val) c.12595T>G (p.Phe4199Val) c.4751T>G c.12574T>G (p.Phe4192Val) c.2627T>G c.12526T>G (p.Phe4176Val) n.3769T>G c.12628T>G (p.Phe4210Val) c.12625T>G (p.Phe4209Val) c.12604T>G (p.Phe4202Val) c.12598T>G (p.Phe4200Val) c.12592T>G (p.Phe4198Val) c.12568T>G (p.Phe4190Val) c.12391T>G (p.Phe4131Val) c.12535T>G (p.Phe4179Val) c.12607T>G (p.Phe4203Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237784286T= | CA2487482465 | RYR2 | c.*3666T= (n.*3666T=) c.12562T= (p.Phe4188=) c.12595T= (p.Phe4199=) c.4751T= c.12574T= (p.Phe4192=) c.2627T= c.12526T= (p.Phe4176=) n.3769T= c.12628T= (p.Phe4210=) c.12625T= (p.Phe4209=) c.12604T= (p.Phe4202=) c.12598T= (p.Phe4200=) c.12592T= (p.Phe4198=) c.12568T= (p.Phe4190=) c.12391T= (p.Phe4131=) c.12535T= (p.Phe4179=) c.12607T= (p.Phe4203=) | |
| 1 | g.237784287T>A | CA345413660 | RYR2 | c.*3667T>A (n.*3667T>A) c.12563T>A (p.Phe4188Tyr) c.12596T>A (p.Phe4199Tyr) c.4752T>A c.12575T>A (p.Phe4192Tyr) c.2628T>A c.12527T>A (p.Phe4176Tyr) n.3770T>A c.12629T>A (p.Phe4210Tyr) c.12626T>A (p.Phe4209Tyr) c.12605T>A (p.Phe4202Tyr) c.12599T>A (p.Phe4200Tyr) c.12593T>A (p.Phe4198Tyr) c.12569T>A (p.Phe4190Tyr) c.12392T>A (p.Phe4131Tyr) c.12536T>A (p.Phe4179Tyr) c.12608T>A (p.Phe4203Tyr) | |
| 1 | g.237784287T>C | CA345413661 | RYR2 | c.*3667T>C (n.*3667T>C) c.12563T>C (p.Phe4188Ser) c.12596T>C (p.Phe4199Ser) c.4752T>C c.12575T>C (p.Phe4192Ser) c.2628T>C c.12527T>C (p.Phe4176Ser) n.3770T>C c.12629T>C (p.Phe4210Ser) c.12626T>C (p.Phe4209Ser) c.12605T>C (p.Phe4202Ser) c.12599T>C (p.Phe4200Ser) c.12593T>C (p.Phe4198Ser) c.12569T>C (p.Phe4190Ser) c.12392T>C (p.Phe4131Ser) c.12536T>C (p.Phe4179Ser) c.12608T>C (p.Phe4203Ser) | |
| 1 | g.237784287T>G | CA345413662 | RYR2 | c.*3667T>G (n.*3667T>G) c.12563T>G (p.Phe4188Cys) c.12596T>G (p.Phe4199Cys) c.4752T>G c.12575T>G (p.Phe4192Cys) c.2628T>G c.12527T>G (p.Phe4176Cys) n.3770T>G c.12629T>G (p.Phe4210Cys) c.12626T>G (p.Phe4209Cys) c.12605T>G (p.Phe4202Cys) c.12599T>G (p.Phe4200Cys) c.12593T>G (p.Phe4198Cys) c.12569T>G (p.Phe4190Cys) c.12392T>G (p.Phe4131Cys) c.12536T>G (p.Phe4179Cys) c.12608T>G (p.Phe4203Cys) | gnomAD v4 |
| 1 | g.237784288C>A | CA345413663 | RYR2 | c.*3668C>A (n.*3668C>A) c.12564C>A (p.Phe4188Leu) c.12597C>A (p.Phe4199Leu) c.4753C>A c.12576C>A (p.Phe4192Leu) c.2629C>A c.12528C>A (p.Phe4176Leu) n.3771C>A c.12630C>A (p.Phe4210Leu) c.12627C>A (p.Phe4209Leu) c.12606C>A (p.Phe4202Leu) c.12600C>A (p.Phe4200Leu) c.12594C>A (p.Phe4198Leu) c.12570C>A (p.Phe4190Leu) c.12393C>A (p.Phe4131Leu) c.12537C>A (p.Phe4179Leu) c.12609C>A (p.Phe4203Leu) | |
| 1 | g.237784288C>G | CA345413664 | RYR2 | c.*3668C>G (n.*3668C>G) c.12564C>G (p.Phe4188Leu) c.12597C>G (p.Phe4199Leu) c.4753C>G c.12576C>G (p.Phe4192Leu) c.2629C>G c.12528C>G (p.Phe4176Leu) n.3771C>G c.12630C>G (p.Phe4210Leu) c.12627C>G (p.Phe4209Leu) c.12606C>G (p.Phe4202Leu) c.12600C>G (p.Phe4200Leu) c.12594C>G (p.Phe4198Leu) c.12570C>G (p.Phe4190Leu) c.12393C>G (p.Phe4131Leu) c.12537C>G (p.Phe4179Leu) c.12609C>G (p.Phe4203Leu) | |
| 1 | g.237784288C>T | CA424032334 | RYR2 | c.*3668C>T (n.*3668C>T) c.12564C>T (p.Phe4188=) c.12597C>T (p.Phe4199=) c.4753C>T c.12576C>T (p.Phe4192=) c.2629C>T c.12528C>T (p.Phe4176=) n.3771C>T c.12630C>T (p.Phe4210=) c.12627C>T (p.Phe4209=) c.12606C>T (p.Phe4202=) c.12600C>T (p.Phe4200=) c.12594C>T (p.Phe4198=) c.12570C>T (p.Phe4190=) c.12393C>T (p.Phe4131=) c.12537C>T (p.Phe4179=) c.12609C>T (p.Phe4203=) | |
| 1 | g.237784289T>A | CA345413665 | RYR2 | c.*3669T>A (n.*3669T>A) c.12565T>A (p.Cys4189Ser) c.12598T>A (p.Cys4200Ser) c.4754T>A c.12577T>A (p.Cys4193Ser) c.2630T>A c.12529T>A (p.Cys4177Ser) n.3772T>A c.12631T>A (p.Cys4211Ser) c.12628T>A (p.Cys4210Ser) c.12607T>A (p.Cys4203Ser) c.12601T>A (p.Cys4201Ser) c.12595T>A (p.Cys4199Ser) c.12571T>A (p.Cys4191Ser) c.12394T>A (p.Cys4132Ser) c.12538T>A (p.Cys4180Ser) c.12610T>A (p.Cys4204Ser) | |
| 1 | g.237784289T>C | CA345413666 | RYR2 | c.*3669T>C (n.*3669T>C) c.12565T>C (p.Cys4189Arg) c.12598T>C (p.Cys4200Arg) c.4754T>C c.12577T>C (p.Cys4193Arg) c.2630T>C c.12529T>C (p.Cys4177Arg) n.3772T>C c.12631T>C (p.Cys4211Arg) c.12628T>C (p.Cys4210Arg) c.12607T>C (p.Cys4203Arg) c.12601T>C (p.Cys4201Arg) c.12595T>C (p.Cys4199Arg) c.12571T>C (p.Cys4191Arg) c.12394T>C (p.Cys4132Arg) c.12538T>C (p.Cys4180Arg) c.12610T>C (p.Cys4204Arg) | COSMIC |
| 1 | g.237784289T>G | CA345413667 | RYR2 | c.*3669T>G (n.*3669T>G) c.12565T>G (p.Cys4189Gly) c.12598T>G (p.Cys4200Gly) c.4754T>G c.12577T>G (p.Cys4193Gly) c.2630T>G c.12529T>G (p.Cys4177Gly) n.3772T>G c.12631T>G (p.Cys4211Gly) c.12628T>G (p.Cys4210Gly) c.12607T>G (p.Cys4203Gly) c.12601T>G (p.Cys4201Gly) c.12595T>G (p.Cys4199Gly) c.12571T>G (p.Cys4191Gly) c.12394T>G (p.Cys4132Gly) c.12538T>G (p.Cys4180Gly) c.12610T>G (p.Cys4204Gly) | |
| 1 | g.237784290G>A | CA345413668 | RYR2 | c.*3670G>A (n.*3670G>A) c.12566G>A (p.Cys4189Tyr) c.12599G>A (p.Cys4200Tyr) c.4755G>A c.12578G>A (p.Cys4193Tyr) c.2631G>A c.12530G>A (p.Cys4177Tyr) n.3773G>A c.12632G>A (p.Cys4211Tyr) c.12629G>A (p.Cys4210Tyr) c.12608G>A (p.Cys4203Tyr) c.12602G>A (p.Cys4201Tyr) c.12596G>A (p.Cys4199Tyr) c.12572G>A (p.Cys4191Tyr) c.12395G>A (p.Cys4132Tyr) c.12539G>A (p.Cys4180Tyr) c.12611G>A (p.Cys4204Tyr) | ClinVar dbSNP |
| 1 | g.237784290G>C | CA345413669 | RYR2 | c.*3670G>C (n.*3670G>C) c.12566G>C (p.Cys4189Ser) c.12599G>C (p.Cys4200Ser) c.4755G>C c.12578G>C (p.Cys4193Ser) c.2631G>C c.12530G>C (p.Cys4177Ser) n.3773G>C c.12632G>C (p.Cys4211Ser) c.12629G>C (p.Cys4210Ser) c.12608G>C (p.Cys4203Ser) c.12602G>C (p.Cys4201Ser) c.12596G>C (p.Cys4199Ser) c.12572G>C (p.Cys4191Ser) c.12395G>C (p.Cys4132Ser) c.12539G>C (p.Cys4180Ser) c.12611G>C (p.Cys4204Ser) | gnomAD v4 |
| 1 | g.237784290G= | CA2487482466 | RYR2 | c.*3670G= (n.*3670G=) c.12566G= (p.Cys4189=) c.12599G= (p.Cys4200=) c.4755G= c.12578G= (p.Cys4193=) c.2631G= c.12530G= (p.Cys4177=) n.3773G= c.12632G= (p.Cys4211=) c.12629G= (p.Cys4210=) c.12608G= (p.Cys4203=) c.12602G= (p.Cys4201=) c.12596G= (p.Cys4199=) c.12572G= (p.Cys4191=) c.12395G= (p.Cys4132=) c.12539G= (p.Cys4180=) c.12611G= (p.Cys4204=) | |
| 1 | g.237784290G>T | CA345413670 | RYR2 | c.*3670G>T (n.*3670G>T) c.12566G>T (p.Cys4189Phe) c.12599G>T (p.Cys4200Phe) c.4755G>T c.12578G>T (p.Cys4193Phe) c.2631G>T c.12530G>T (p.Cys4177Phe) n.3773G>T c.12632G>T (p.Cys4211Phe) c.12629G>T (p.Cys4210Phe) c.12608G>T (p.Cys4203Phe) c.12602G>T (p.Cys4201Phe) c.12596G>T (p.Cys4199Phe) c.12572G>T (p.Cys4191Phe) c.12395G>T (p.Cys4132Phe) c.12539G>T (p.Cys4180Phe) c.12611G>T (p.Cys4204Phe) | |
| 1 | g.237784291C>A | CA345413672 | RYR2 | c.*3671C>A (n.*3671C>A) c.12567C>A (p.Cys4189Ter) c.12600C>A (p.Cys4200Ter) c.4756C>A c.12579C>A (p.Cys4193Ter) c.2632C>A c.12531C>A (p.Cys4177Ter) n.3774C>A c.12633C>A (p.Cys4211Ter) c.12630C>A (p.Cys4210Ter) c.12609C>A (p.Cys4203Ter) c.12603C>A (p.Cys4201Ter) c.12597C>A (p.Cys4199Ter) c.12573C>A (p.Cys4191Ter) c.12396C>A (p.Cys4132Ter) c.12540C>A (p.Cys4180Ter) c.12612C>A (p.Cys4204Ter) | |
| 1 | g.237784291C= | CA1143669639 | RYR2 | c.*3671C= (n.*3671C=) c.12567C= (p.Cys4189=) c.12600C= (p.Cys4200=) c.4756C= c.12579C= (p.Cys4193=) c.2632C= c.12531C= (p.Cys4177=) n.3774C= c.12633C= (p.Cys4211=) c.12630C= (p.Cys4210=) c.12609C= (p.Cys4203=) c.12603C= (p.Cys4201=) c.12597C= (p.Cys4199=) c.12573C= (p.Cys4191=) c.12396C= (p.Cys4132=) c.12540C= (p.Cys4180=) c.12612C= (p.Cys4204=) | |
| 1 | g.237784291C>G | CA345413671 | RYR2 | c.*3671C>G (n.*3671C>G) c.12567C>G (p.Cys4189Trp) c.12600C>G (p.Cys4200Trp) c.4756C>G c.12579C>G (p.Cys4193Trp) c.2632C>G c.12531C>G (p.Cys4177Trp) n.3774C>G c.12633C>G (p.Cys4211Trp) c.12630C>G (p.Cys4210Trp) c.12609C>G (p.Cys4203Trp) c.12603C>G (p.Cys4201Trp) c.12597C>G (p.Cys4199Trp) c.12573C>G (p.Cys4191Trp) c.12396C>G (p.Cys4132Trp) c.12540C>G (p.Cys4180Trp) c.12612C>G (p.Cys4204Trp) | |
| 1 | g.237784291C>T | CA085199 | RYR2 | c.*3671C>T (n.*3671C>T) c.12567C>T (p.Cys4189=) c.12600C>T (p.Cys4200=) c.4756C>T c.12579C>T (p.Cys4193=) c.2632C>T c.12531C>T (p.Cys4177=) n.3774C>T c.12633C>T (p.Cys4211=) c.12630C>T (p.Cys4210=) c.12609C>T (p.Cys4203=) c.12603C>T (p.Cys4201=) c.12597C>T (p.Cys4199=) c.12573C>T (p.Cys4191=) c.12396C>T (p.Cys4132=) c.12540C>T (p.Cys4180=) c.12612C>T (p.Cys4204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784292G>A | CA085200 | RYR2 | c.*3672G>A (n.*3672G>A) c.12568G>A (p.Glu4190Lys) c.12601G>A (p.Glu4201Lys) c.4757G>A c.12580G>A (p.Glu4194Lys) c.2633G>A c.12532G>A (p.Glu4178Lys) n.3775G>A c.12634G>A (p.Glu4212Lys) c.12631G>A (p.Glu4211Lys) c.12610G>A (p.Glu4204Lys) c.12604G>A (p.Glu4202Lys) c.12598G>A (p.Glu4200Lys) c.12574G>A (p.Glu4192Lys) c.12397G>A (p.Glu4133Lys) c.12541G>A (p.Glu4181Lys) c.12613G>A (p.Glu4205Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237784292G>C | CA345413673 | RYR2 | c.*3672G>C (n.*3672G>C) c.12568G>C (p.Glu4190Gln) c.12601G>C (p.Glu4201Gln) c.4757G>C c.12580G>C (p.Glu4194Gln) c.2633G>C c.12532G>C (p.Glu4178Gln) n.3775G>C c.12634G>C (p.Glu4212Gln) c.12631G>C (p.Glu4211Gln) c.12610G>C (p.Glu4204Gln) c.12604G>C (p.Glu4202Gln) c.12598G>C (p.Glu4200Gln) c.12574G>C (p.Glu4192Gln) c.12397G>C (p.Glu4133Gln) c.12541G>C (p.Glu4181Gln) c.12613G>C (p.Glu4205Gln) | dbSNP |
| 1 | g.237784292G= | CA2487482467 | RYR2 | c.*3672G= (n.*3672G=) c.12568G= (p.Glu4190=) c.12601G= (p.Glu4201=) c.4757G= c.12580G= (p.Glu4194=) c.2633G= c.12532G= (p.Glu4178=) n.3775G= c.12634G= (p.Glu4212=) c.12631G= (p.Glu4211=) c.12610G= (p.Glu4204=) c.12604G= (p.Glu4202=) c.12598G= (p.Glu4200=) c.12574G= (p.Glu4192=) c.12397G= (p.Glu4133=) c.12541G= (p.Glu4181=) c.12613G= (p.Glu4205=) | |
| 1 | g.237784292G>T | CA345413674 | RYR2 | c.*3672G>T (n.*3672G>T) c.12568G>T (p.Glu4190Ter) c.12601G>T (p.Glu4201Ter) c.4757G>T c.12580G>T (p.Glu4194Ter) c.2633G>T c.12532G>T (p.Glu4178Ter) n.3775G>T c.12634G>T (p.Glu4212Ter) c.12631G>T (p.Glu4211Ter) c.12610G>T (p.Glu4204Ter) c.12604G>T (p.Glu4202Ter) c.12598G>T (p.Glu4200Ter) c.12574G>T (p.Glu4192Ter) c.12397G>T (p.Glu4133Ter) c.12541G>T (p.Glu4181Ter) c.12613G>T (p.Glu4205Ter) | COSMIC COSMIC |
| 1 | g.237784293A>C | CA345413675 | RYR2 | c.*3673A>C (n.*3673A>C) c.12569A>C (p.Glu4190Ala) c.12602A>C (p.Glu4201Ala) c.4758A>C c.12581A>C (p.Glu4194Ala) c.2634A>C c.12533A>C (p.Glu4178Ala) n.3776A>C c.12635A>C (p.Glu4212Ala) c.12632A>C (p.Glu4211Ala) c.12611A>C (p.Glu4204Ala) c.12605A>C (p.Glu4202Ala) c.12599A>C (p.Glu4200Ala) c.12575A>C (p.Glu4192Ala) c.12398A>C (p.Glu4133Ala) c.12542A>C (p.Glu4181Ala) c.12614A>C (p.Glu4205Ala) | |
| 1 | g.237784293A>G | CA345413676 | RYR2 | c.*3673A>G (n.*3673A>G) c.12569A>G (p.Glu4190Gly) c.12602A>G (p.Glu4201Gly) c.4758A>G c.12581A>G (p.Glu4194Gly) c.2634A>G c.12533A>G (p.Glu4178Gly) n.3776A>G c.12635A>G (p.Glu4212Gly) c.12632A>G (p.Glu4211Gly) c.12611A>G (p.Glu4204Gly) c.12605A>G (p.Glu4202Gly) c.12599A>G (p.Glu4200Gly) c.12575A>G (p.Glu4192Gly) c.12398A>G (p.Glu4133Gly) c.12542A>G (p.Glu4181Gly) c.12614A>G (p.Glu4205Gly) | |
| 1 | g.237784293A>T | CA345413677 | RYR2 | c.*3673A>T (n.*3673A>T) c.12569A>T (p.Glu4190Val) c.12602A>T (p.Glu4201Val) c.4758A>T c.12581A>T (p.Glu4194Val) c.2634A>T c.12533A>T (p.Glu4178Val) n.3776A>T c.12635A>T (p.Glu4212Val) c.12632A>T (p.Glu4211Val) c.12611A>T (p.Glu4204Val) c.12605A>T (p.Glu4202Val) c.12599A>T (p.Glu4200Val) c.12575A>T (p.Glu4192Val) c.12398A>T (p.Glu4133Val) c.12542A>T (p.Glu4181Val) c.12614A>T (p.Glu4205Val) | |
| 1 | g.237784294G>A | CA424032336 | RYR2 | c.*3674G>A (n.*3674G>A) c.12570G>A (p.Glu4190=) c.12603G>A (p.Glu4201=) c.4759G>A c.12582G>A (p.Glu4194=) c.2635G>A c.12534G>A (p.Glu4178=) n.3777G>A c.12636G>A (p.Glu4212=) c.12633G>A (p.Glu4211=) c.12612G>A (p.Glu4204=) c.12606G>A (p.Glu4202=) c.12600G>A (p.Glu4200=) c.12576G>A (p.Glu4192=) c.12399G>A (p.Glu4133=) c.12543G>A (p.Glu4181=) c.12615G>A (p.Glu4205=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237784294G>C | CA345413678 | RYR2 | c.*3674G>C (n.*3674G>C) c.12570G>C (p.Glu4190Asp) c.12603G>C (p.Glu4201Asp) c.4759G>C c.12582G>C (p.Glu4194Asp) c.2635G>C c.12534G>C (p.Glu4178Asp) n.3777G>C c.12636G>C (p.Glu4212Asp) c.12633G>C (p.Glu4211Asp) c.12612G>C (p.Glu4204Asp) c.12606G>C (p.Glu4202Asp) c.12600G>C (p.Glu4200Asp) c.12576G>C (p.Glu4192Asp) c.12399G>C (p.Glu4133Asp) c.12543G>C (p.Glu4181Asp) c.12615G>C (p.Glu4205Asp) | |
| 1 | g.237784294G>T | CA345413679 | RYR2 | c.*3674G>T (n.*3674G>T) c.12570G>T (p.Glu4190Asp) c.12603G>T (p.Glu4201Asp) c.4759G>T c.12582G>T (p.Glu4194Asp) c.2635G>T c.12534G>T (p.Glu4178Asp) n.3777G>T c.12636G>T (p.Glu4212Asp) c.12633G>T (p.Glu4211Asp) c.12612G>T (p.Glu4204Asp) c.12606G>T (p.Glu4202Asp) c.12600G>T (p.Glu4200Asp) c.12576G>T (p.Glu4192Asp) c.12399G>T (p.Glu4133Asp) c.12543G>T (p.Glu4181Asp) c.12615G>T (p.Glu4205Asp) | ClinVar dbSNP |
| 1 | g.237784295G>A | CA007613 | RYR2 | c.*3675G>A (n.*3675G>A) c.12571G>A (p.Asp4191Asn) c.12604G>A (p.Asp4202Asn) c.4760G>A c.12583G>A (p.Asp4195Asn) c.2636G>A c.12535G>A (p.Asp4179Asn) n.3778G>A c.12637G>A (p.Asp4213Asn) c.12634G>A (p.Asp4212Asn) c.12613G>A (p.Asp4205Asn) c.12607G>A (p.Asp4203Asn) c.12601G>A (p.Asp4201Asn) c.12577G>A (p.Asp4193Asn) c.12400G>A (p.Asp4134Asn) c.12544G>A (p.Asp4182Asn) c.12616G>A (p.Asp4206Asn) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.237784295G>C | CA345413680 | RYR2 | c.*3675G>C (n.*3675G>C) c.12571G>C (p.Asp4191His) c.12604G>C (p.Asp4202His) c.4760G>C c.12583G>C (p.Asp4195His) c.2636G>C c.12535G>C (p.Asp4179His) n.3778G>C c.12637G>C (p.Asp4213His) c.12634G>C (p.Asp4212His) c.12613G>C (p.Asp4205His) c.12607G>C (p.Asp4203His) c.12601G>C (p.Asp4201His) c.12577G>C (p.Asp4193His) c.12400G>C (p.Asp4134His) c.12544G>C (p.Asp4182His) c.12616G>C (p.Asp4206His) | |
| 1 | g.237784295G= | CA2487482468 | RYR2 | c.*3675G= (n.*3675G=) c.12571G= (p.Asp4191=) c.12604G= (p.Asp4202=) c.4760G= c.12583G= (p.Asp4195=) c.2636G= c.12535G= (p.Asp4179=) n.3778G= c.12637G= (p.Asp4213=) c.12634G= (p.Asp4212=) c.12613G= (p.Asp4205=) c.12607G= (p.Asp4203=) c.12601G= (p.Asp4201=) c.12577G= (p.Asp4193=) c.12400G= (p.Asp4134=) c.12544G= (p.Asp4182=) c.12616G= (p.Asp4206=) | |
| 1 | g.237784295G>T | CA345413681 | RYR2 | c.*3675G>T (n.*3675G>T) c.12571G>T (p.Asp4191Tyr) c.12604G>T (p.Asp4202Tyr) c.4760G>T c.12583G>T (p.Asp4195Tyr) c.2636G>T c.12535G>T (p.Asp4179Tyr) n.3778G>T c.12637G>T (p.Asp4213Tyr) c.12634G>T (p.Asp4212Tyr) c.12613G>T (p.Asp4205Tyr) c.12607G>T (p.Asp4203Tyr) c.12601G>T (p.Asp4201Tyr) c.12577G>T (p.Asp4193Tyr) c.12400G>T (p.Asp4134Tyr) c.12544G>T (p.Asp4182Tyr) c.12616G>T (p.Asp4206Tyr) | |
| 1 | g.237784296A>C | CA345413683 | RYR2 | c.*3676A>C (n.*3676A>C) c.12572A>C (p.Asp4191Ala) c.12605A>C (p.Asp4202Ala) c.4761A>C c.12584A>C (p.Asp4195Ala) c.2637A>C c.12536A>C (p.Asp4179Ala) n.3779A>C c.12638A>C (p.Asp4213Ala) c.12635A>C (p.Asp4212Ala) c.12614A>C (p.Asp4205Ala) c.12608A>C (p.Asp4203Ala) c.12602A>C (p.Asp4201Ala) c.12578A>C (p.Asp4193Ala) c.12401A>C (p.Asp4134Ala) c.12545A>C (p.Asp4182Ala) c.12617A>C (p.Asp4206Ala) | |
| 1 | g.237784296A>G | CA345413684 | RYR2 | c.*3676A>G (n.*3676A>G) c.12572A>G (p.Asp4191Gly) c.12605A>G (p.Asp4202Gly) c.4761A>G c.12584A>G (p.Asp4195Gly) c.2637A>G c.12536A>G (p.Asp4179Gly) n.3779A>G c.12638A>G (p.Asp4213Gly) c.12635A>G (p.Asp4212Gly) c.12614A>G (p.Asp4205Gly) c.12608A>G (p.Asp4203Gly) c.12602A>G (p.Asp4201Gly) c.12578A>G (p.Asp4193Gly) c.12401A>G (p.Asp4134Gly) c.12545A>G (p.Asp4182Gly) c.12617A>G (p.Asp4206Gly) | COSMIC |
| 1 | g.237784296A>T | CA345413682 | RYR2 | c.*3676A>T (n.*3676A>T) c.12572A>T (p.Asp4191Val) c.12605A>T (p.Asp4202Val) c.4761A>T c.12584A>T (p.Asp4195Val) c.2637A>T c.12536A>T (p.Asp4179Val) n.3779A>T c.12638A>T (p.Asp4213Val) c.12635A>T (p.Asp4212Val) c.12614A>T (p.Asp4205Val) c.12608A>T (p.Asp4203Val) c.12602A>T (p.Asp4201Val) c.12578A>T (p.Asp4193Val) c.12401A>T (p.Asp4134Val) c.12545A>T (p.Asp4182Val) c.12617A>T (p.Asp4206Val) | |
| 1 | g.237784297C>A | CA345413685 | RYR2 | c.*3677C>A (n.*3677C>A) c.12573C>A (p.Asp4191Glu) c.12606C>A (p.Asp4202Glu) c.4762C>A c.12585C>A (p.Asp4195Glu) c.2638C>A c.12537C>A (p.Asp4179Glu) n.3780C>A c.12639C>A (p.Asp4213Glu) c.12636C>A (p.Asp4212Glu) c.12615C>A (p.Asp4205Glu) c.12609C>A (p.Asp4203Glu) c.12603C>A (p.Asp4201Glu) c.12579C>A (p.Asp4193Glu) c.12402C>A (p.Asp4134Glu) c.12546C>A (p.Asp4182Glu) c.12618C>A (p.Asp4206Glu) | |
| 1 | g.237784297C>G | CA345413686 | RYR2 | c.*3677C>G (n.*3677C>G) c.12573C>G (p.Asp4191Glu) c.12606C>G (p.Asp4202Glu) c.4762C>G c.12585C>G (p.Asp4195Glu) c.2638C>G c.12537C>G (p.Asp4179Glu) n.3780C>G c.12639C>G (p.Asp4213Glu) c.12636C>G (p.Asp4212Glu) c.12615C>G (p.Asp4205Glu) c.12609C>G (p.Asp4203Glu) c.12603C>G (p.Asp4201Glu) c.12579C>G (p.Asp4193Glu) c.12402C>G (p.Asp4134Glu) c.12546C>G (p.Asp4182Glu) c.12618C>G (p.Asp4206Glu) | |
| 1 | g.237784297C>T | CA424032342 | RYR2 | c.*3677C>T (n.*3677C>T) c.12573C>T (p.Asp4191=) c.12606C>T (p.Asp4202=) c.4762C>T c.12585C>T (p.Asp4195=) c.2638C>T c.12537C>T (p.Asp4179=) n.3780C>T c.12639C>T (p.Asp4213=) c.12636C>T (p.Asp4212=) c.12615C>T (p.Asp4205=) c.12609C>T (p.Asp4203=) c.12603C>T (p.Asp4201=) c.12579C>T (p.Asp4193=) c.12402C>T (p.Asp4134=) c.12546C>T (p.Asp4182=) c.12618C>T (p.Asp4206=) | |
| 1 | g.237784298A= | CA2487482469 | RYR2 | c.*3678A= (n.*3678A=) c.12574A= (p.Thr4192=) c.12607A= (p.Thr4203=) c.4763A= c.12586A= (p.Thr4196=) c.2639A= c.12538A= (p.Thr4180=) n.3781A= c.12640A= (p.Thr4214=) c.12637A= (p.Thr4213=) c.12616A= (p.Thr4206=) c.12610A= (p.Thr4204=) c.12604A= (p.Thr4202=) c.12580A= (p.Thr4194=) c.12403A= (p.Thr4135=) c.12547A= (p.Thr4183=) c.12619A= (p.Thr4207=) | |
| 1 | g.237784298A>C | CA345413687 | RYR2 | c.*3678A>C (n.*3678A>C) c.12574A>C (p.Thr4192Pro) c.12607A>C (p.Thr4203Pro) c.4763A>C c.12586A>C (p.Thr4196Pro) c.2639A>C c.12538A>C (p.Thr4180Pro) n.3781A>C c.12640A>C (p.Thr4214Pro) c.12637A>C (p.Thr4213Pro) c.12616A>C (p.Thr4206Pro) c.12610A>C (p.Thr4204Pro) c.12604A>C (p.Thr4202Pro) c.12580A>C (p.Thr4194Pro) c.12403A>C (p.Thr4135Pro) c.12547A>C (p.Thr4183Pro) c.12619A>C (p.Thr4207Pro) | |
| 1 | g.237784298A>G | CA345413688 | RYR2 | c.*3678A>G (n.*3678A>G) c.12574A>G (p.Thr4192Ala) c.12607A>G (p.Thr4203Ala) c.4763A>G c.12586A>G (p.Thr4196Ala) c.2639A>G c.12538A>G (p.Thr4180Ala) n.3781A>G c.12640A>G (p.Thr4214Ala) c.12637A>G (p.Thr4213Ala) c.12616A>G (p.Thr4206Ala) c.12610A>G (p.Thr4204Ala) c.12604A>G (p.Thr4202Ala) c.12580A>G (p.Thr4194Ala) c.12403A>G (p.Thr4135Ala) c.12547A>G (p.Thr4183Ala) c.12619A>G (p.Thr4207Ala) | dbSNP |
| 1 | g.237784298A>T | CA345413689 | RYR2 | c.*3678A>T (n.*3678A>T) c.12574A>T (p.Thr4192Ser) c.12607A>T (p.Thr4203Ser) c.4763A>T c.12586A>T (p.Thr4196Ser) c.2639A>T c.12538A>T (p.Thr4180Ser) n.3781A>T c.12640A>T (p.Thr4214Ser) c.12637A>T (p.Thr4213Ser) c.12616A>T (p.Thr4206Ser) c.12610A>T (p.Thr4204Ser) c.12604A>T (p.Thr4202Ser) c.12580A>T (p.Thr4194Ser) c.12403A>T (p.Thr4135Ser) c.12547A>T (p.Thr4183Ser) c.12619A>T (p.Thr4207Ser) | |
| 1 | g.237784299C>A | CA345413690 | RYR2 | c.*3679C>A (n.*3679C>A) c.12575C>A (p.Thr4192Asn) c.12608C>A (p.Thr4203Asn) c.4764C>A c.12587C>A (p.Thr4196Asn) c.2640C>A c.12539C>A (p.Thr4180Asn) n.3782C>A c.12641C>A (p.Thr4214Asn) c.12638C>A (p.Thr4213Asn) c.12617C>A (p.Thr4206Asn) c.12611C>A (p.Thr4204Asn) c.12605C>A (p.Thr4202Asn) c.12581C>A (p.Thr4194Asn) c.12404C>A (p.Thr4135Asn) c.12548C>A (p.Thr4183Asn) c.12620C>A (p.Thr4207Asn) | |
| 1 | g.237784299C>G | CA345413691 | RYR2 | c.*3679C>G (n.*3679C>G) c.12575C>G (p.Thr4192Ser) c.12608C>G (p.Thr4203Ser) c.4764C>G c.12587C>G (p.Thr4196Ser) c.2640C>G c.12539C>G (p.Thr4180Ser) n.3782C>G c.12641C>G (p.Thr4214Ser) c.12638C>G (p.Thr4213Ser) c.12617C>G (p.Thr4206Ser) c.12611C>G (p.Thr4204Ser) c.12605C>G (p.Thr4202Ser) c.12581C>G (p.Thr4194Ser) c.12404C>G (p.Thr4135Ser) c.12548C>G (p.Thr4183Ser) c.12620C>G (p.Thr4207Ser) | |
| 1 | g.237784299C>T | CA345413692 | RYR2 | c.*3679C>T (n.*3679C>T) c.12575C>T (p.Thr4192Ile) c.12608C>T (p.Thr4203Ile) c.4764C>T c.12587C>T (p.Thr4196Ile) c.2640C>T c.12539C>T (p.Thr4180Ile) n.3782C>T c.12641C>T (p.Thr4214Ile) c.12638C>T (p.Thr4213Ile) c.12617C>T (p.Thr4206Ile) c.12611C>T (p.Thr4204Ile) c.12605C>T (p.Thr4202Ile) c.12581C>T (p.Thr4194Ile) c.12404C>T (p.Thr4135Ile) c.12548C>T (p.Thr4183Ile) c.12620C>T (p.Thr4207Ile) | ClinVar dbSNP |
| 1 | g.237784300C>A | CA424032345 | RYR2 | c.*3680C>A (n.*3680C>A) c.12576C>A (p.Thr4192=) c.12609C>A (p.Thr4203=) c.4765C>A c.12588C>A (p.Thr4196=) c.2641C>A c.12540C>A (p.Thr4180=) n.3783C>A c.12642C>A (p.Thr4214=) c.12639C>A (p.Thr4213=) c.12618C>A (p.Thr4206=) c.12612C>A (p.Thr4204=) c.12606C>A (p.Thr4202=) c.12582C>A (p.Thr4194=) c.12405C>A (p.Thr4135=) c.12549C>A (p.Thr4183=) c.12621C>A (p.Thr4207=) | |
| 1 | g.237784300C= | CA2487482470 | RYR2 | c.*3680C= (n.*3680C=) c.12576C= (p.Thr4192=) c.12609C= (p.Thr4203=) c.4765C= c.12588C= (p.Thr4196=) c.2641C= c.12540C= (p.Thr4180=) n.3783C= c.12642C= (p.Thr4214=) c.12639C= (p.Thr4213=) c.12618C= (p.Thr4206=) c.12612C= (p.Thr4204=) c.12606C= (p.Thr4202=) c.12582C= (p.Thr4194=) c.12405C= (p.Thr4135=) c.12549C= (p.Thr4183=) c.12621C= (p.Thr4207=) | |
| 1 | g.237784300C>G | CA424032347 | RYR2 | c.*3680C>G (n.*3680C>G) c.12576C>G (p.Thr4192=) c.12609C>G (p.Thr4203=) c.4765C>G c.12588C>G (p.Thr4196=) c.2641C>G c.12540C>G (p.Thr4180=) n.3783C>G c.12642C>G (p.Thr4214=) c.12639C>G (p.Thr4213=) c.12618C>G (p.Thr4206=) c.12612C>G (p.Thr4204=) c.12606C>G (p.Thr4202=) c.12582C>G (p.Thr4194=) c.12405C>G (p.Thr4135=) c.12549C>G (p.Thr4183=) c.12621C>G (p.Thr4207=) | |
| 1 | g.237784300C>T | CA39827782 | RYR2 | c.*3680C>T (n.*3680C>T) c.12576C>T (p.Thr4192=) c.12609C>T (p.Thr4203=) c.4765C>T c.12588C>T (p.Thr4196=) c.2641C>T c.12540C>T (p.Thr4180=) n.3783C>T c.12642C>T (p.Thr4214=) c.12639C>T (p.Thr4213=) c.12618C>T (p.Thr4206=) c.12612C>T (p.Thr4204=) c.12606C>T (p.Thr4202=) c.12582C>T (p.Thr4194=) c.12405C>T (p.Thr4135=) c.12549C>T (p.Thr4183=) c.12621C>T (p.Thr4207=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237784301A= | CA2487482471 | RYR2 | c.*3681A= (n.*3681A=) c.12577A= (p.Ile4193=) c.12610A= (p.Ile4204=) c.4766A= c.12589A= (p.Ile4197=) c.2642A= c.12541A= (p.Ile4181=) n.3784A= c.12643A= (p.Ile4215=) c.12640A= (p.Ile4214=) c.12619A= (p.Ile4207=) c.12613A= (p.Ile4205=) c.12607A= (p.Ile4203=) c.12583A= (p.Ile4195=) c.12406A= (p.Ile4136=) c.12550A= (p.Ile4184=) c.12622A= (p.Ile4208=) | |
| 1 | g.237784301A>C | CA345413693 | RYR2 | c.*3681A>C (n.*3681A>C) c.12577A>C (p.Ile4193Leu) c.12610A>C (p.Ile4204Leu) c.4766A>C c.12589A>C (p.Ile4197Leu) c.2642A>C c.12541A>C (p.Ile4181Leu) n.3784A>C c.12643A>C (p.Ile4215Leu) c.12640A>C (p.Ile4214Leu) c.12619A>C (p.Ile4207Leu) c.12613A>C (p.Ile4205Leu) c.12607A>C (p.Ile4203Leu) c.12583A>C (p.Ile4195Leu) c.12406A>C (p.Ile4136Leu) c.12550A>C (p.Ile4184Leu) c.12622A>C (p.Ile4208Leu) | ClinVar dbSNP |
| 1 | g.237784301A>G | CA085201 | RYR2 | c.*3681A>G (n.*3681A>G) c.12577A>G (p.Ile4193Val) c.12610A>G (p.Ile4204Val) c.4766A>G c.12589A>G (p.Ile4197Val) c.2642A>G c.12541A>G (p.Ile4181Val) n.3784A>G c.12643A>G (p.Ile4215Val) c.12640A>G (p.Ile4214Val) c.12619A>G (p.Ile4207Val) c.12613A>G (p.Ile4205Val) c.12607A>G (p.Ile4203Val) c.12583A>G (p.Ile4195Val) c.12406A>G (p.Ile4136Val) c.12550A>G (p.Ile4184Val) c.12622A>G (p.Ile4208Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237784301A>T | CA345413694 | RYR2 | c.*3681A>T (n.*3681A>T) c.12577A>T (p.Ile4193Phe) c.12610A>T (p.Ile4204Phe) c.4766A>T c.12589A>T (p.Ile4197Phe) c.2642A>T c.12541A>T (p.Ile4181Phe) n.3784A>T c.12643A>T (p.Ile4215Phe) c.12640A>T (p.Ile4214Phe) c.12619A>T (p.Ile4207Phe) c.12613A>T (p.Ile4205Phe) c.12607A>T (p.Ile4203Phe) c.12583A>T (p.Ile4195Phe) c.12406A>T (p.Ile4136Phe) c.12550A>T (p.Ile4184Phe) c.12622A>T (p.Ile4208Phe) | |
| 1 | g.237784302T>A | CA345413695 | RYR2 | c.*3682T>A (n.*3682T>A) c.12578T>A (p.Ile4193Asn) c.12611T>A (p.Ile4204Asn) c.4767T>A c.12590T>A (p.Ile4197Asn) c.2643T>A c.12542T>A (p.Ile4181Asn) n.3785T>A c.12644T>A (p.Ile4215Asn) c.12641T>A (p.Ile4214Asn) c.12620T>A (p.Ile4207Asn) c.12614T>A (p.Ile4205Asn) c.12608T>A (p.Ile4203Asn) c.12584T>A (p.Ile4195Asn) c.12407T>A (p.Ile4136Asn) c.12551T>A (p.Ile4184Asn) c.12623T>A (p.Ile4208Asn) | |
| 1 | g.237784302T>C | CA345413696 | RYR2 | c.*3682T>C (n.*3682T>C) c.12578T>C (p.Ile4193Thr) c.12611T>C (p.Ile4204Thr) c.4767T>C c.12590T>C (p.Ile4197Thr) c.2643T>C c.12542T>C (p.Ile4181Thr) n.3785T>C c.12644T>C (p.Ile4215Thr) c.12641T>C (p.Ile4214Thr) c.12620T>C (p.Ile4207Thr) c.12614T>C (p.Ile4205Thr) c.12608T>C (p.Ile4203Thr) c.12584T>C (p.Ile4195Thr) c.12407T>C (p.Ile4136Thr) c.12551T>C (p.Ile4184Thr) c.12623T>C (p.Ile4208Thr) | ClinVar |
| 1 | g.237784302T>G | CA345413697 | RYR2 | c.*3682T>G (n.*3682T>G) c.12578T>G (p.Ile4193Ser) c.12611T>G (p.Ile4204Ser) c.4767T>G c.12590T>G (p.Ile4197Ser) c.2643T>G c.12542T>G (p.Ile4181Ser) n.3785T>G c.12644T>G (p.Ile4215Ser) c.12641T>G (p.Ile4214Ser) c.12620T>G (p.Ile4207Ser) c.12614T>G (p.Ile4205Ser) c.12608T>G (p.Ile4203Ser) c.12584T>G (p.Ile4195Ser) c.12407T>G (p.Ile4136Ser) c.12551T>G (p.Ile4184Ser) c.12623T>G (p.Ile4208Ser) | |
| 1 | g.237784302_237784303delinsTC | CA2487482472 | RYR2 | c.*3682_*3683delinsTC (n.*3682_*3683delinsTC) c.12578_12579delinsTC (p.Ile4193=) c.12611_12612delinsTC (p.Ile4204=) c.4767_4768delinsTC c.12590_12591delinsTC (p.Ile4197=) c.2643_2644delinsTC c.12542_12543delinsTC (p.Ile4181=) n.3785_3786delinsTC c.12644_12645delinsTC (p.Ile4215=) c.12641_12642delinsTC (p.Ile4214=) c.12620_12621delinsTC (p.Ile4207=) c.12614_12615delinsTC (p.Ile4205=) c.12608_12609delinsTC (p.Ile4203=) c.12584_12585delinsTC (p.Ile4195=) c.12407_12408delinsTC (p.Ile4136=) c.12551_12552delinsTC (p.Ile4184=) c.12623_12624delinsTC (p.Ile4208=) | |
| 1 | g.237784303del | CA529913009 | RYR2 | c.*3683del (n.*3683del) c.12579del (p.Phe4194LeufsTer14) c.12612del (p.Phe4205LeufsTer14) c.4768del c.12591del (p.Phe4198LeufsTer14) c.2644del c.12543del (p.Phe4182LeufsTer14) n.3786del c.12645del (p.Phe4216LeufsTer14) c.12642del (p.Phe4215LeufsTer14) c.12621del (p.Phe4208LeufsTer14) c.12615del (p.Phe4206LeufsTer14) c.12609del (p.Phe4204LeufsTer14) c.12585del (p.Phe4196LeufsTer14) c.12408del (p.Phe4137LeufsTer14) c.12552del (p.Phe4185LeufsTer14) c.12624del (p.Phe4209LeufsTer14) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784303C>A | CA424032349 | RYR2 | c.*3683C>A (n.*3683C>A) c.12579C>A (p.Ile4193=) c.12612C>A (p.Ile4204=) c.4768C>A c.12591C>A (p.Ile4197=) c.2644C>A c.12543C>A (p.Ile4181=) n.3786C>A c.12645C>A (p.Ile4215=) c.12642C>A (p.Ile4214=) c.12621C>A (p.Ile4207=) c.12615C>A (p.Ile4205=) c.12609C>A (p.Ile4203=) c.12585C>A (p.Ile4195=) c.12408C>A (p.Ile4136=) c.12552C>A (p.Ile4184=) c.12624C>A (p.Ile4208=) | dbSNP |
| 1 | g.237784303C>G | CA345413698 | RYR2 | c.*3683C>G (n.*3683C>G) c.12579C>G (p.Ile4193Met) c.12612C>G (p.Ile4204Met) c.4768C>G c.12591C>G (p.Ile4197Met) c.2644C>G c.12543C>G (p.Ile4181Met) n.3786C>G c.12645C>G (p.Ile4215Met) c.12642C>G (p.Ile4214Met) c.12621C>G (p.Ile4207Met) c.12615C>G (p.Ile4205Met) c.12609C>G (p.Ile4203Met) c.12585C>G (p.Ile4195Met) c.12408C>G (p.Ile4136Met) c.12552C>G (p.Ile4184Met) c.12624C>G (p.Ile4208Met) | |
| 1 | g.237784303C>T | CA424032350 | RYR2 | c.*3683C>T (n.*3683C>T) c.12579C>T (p.Ile4193=) c.12612C>T (p.Ile4204=) c.4768C>T c.12591C>T (p.Ile4197=) c.2644C>T c.12543C>T (p.Ile4181=) n.3786C>T c.12645C>T (p.Ile4215=) c.12642C>T (p.Ile4214=) c.12621C>T (p.Ile4207=) c.12615C>T (p.Ile4205=) c.12609C>T (p.Ile4203=) c.12585C>T (p.Ile4195=) c.12408C>T (p.Ile4136=) c.12552C>T (p.Ile4184=) c.12624C>T (p.Ile4208=) | |
| 1 | g.237784304T>A | CA345413699 | RYR2 | c.*3684T>A (n.*3684T>A) c.12580T>A (p.Phe4194Ile) c.12613T>A (p.Phe4205Ile) c.4769T>A c.12592T>A (p.Phe4198Ile) c.2645T>A c.12544T>A (p.Phe4182Ile) n.3787T>A c.12646T>A (p.Phe4216Ile) c.12643T>A (p.Phe4215Ile) c.12622T>A (p.Phe4208Ile) c.12616T>A (p.Phe4206Ile) c.12610T>A (p.Phe4204Ile) c.12586T>A (p.Phe4196Ile) c.12409T>A (p.Phe4137Ile) c.12553T>A (p.Phe4185Ile) c.12625T>A (p.Phe4209Ile) | |
| 1 | g.237784304T>C | CA345413700 | RYR2 | c.*3684T>C (n.*3684T>C) c.12580T>C (p.Phe4194Leu) c.12613T>C (p.Phe4205Leu) c.4769T>C c.12592T>C (p.Phe4198Leu) c.2645T>C c.12544T>C (p.Phe4182Leu) n.3787T>C c.12646T>C (p.Phe4216Leu) c.12643T>C (p.Phe4215Leu) c.12622T>C (p.Phe4208Leu) c.12616T>C (p.Phe4206Leu) c.12610T>C (p.Phe4204Leu) c.12586T>C (p.Phe4196Leu) c.12409T>C (p.Phe4137Leu) c.12553T>C (p.Phe4185Leu) c.12625T>C (p.Phe4209Leu) | |
| 1 | g.237784304T>G | CA345413701 | RYR2 | c.*3684T>G (n.*3684T>G) c.12580T>G (p.Phe4194Val) c.12613T>G (p.Phe4205Val) c.4769T>G c.12592T>G (p.Phe4198Val) c.2645T>G c.12544T>G (p.Phe4182Val) n.3787T>G c.12646T>G (p.Phe4216Val) c.12643T>G (p.Phe4215Val) c.12622T>G (p.Phe4208Val) c.12616T>G (p.Phe4206Val) c.12610T>G (p.Phe4204Val) c.12586T>G (p.Phe4196Val) c.12409T>G (p.Phe4137Val) c.12553T>G (p.Phe4185Val) c.12625T>G (p.Phe4209Val) | |
| 1 | g.237784305T>A | CA345413702 | RYR2 | c.*3685T>A (n.*3685T>A) c.12581T>A (p.Phe4194Tyr) c.12614T>A (p.Phe4205Tyr) c.4770T>A c.12593T>A (p.Phe4198Tyr) c.2646T>A c.12545T>A (p.Phe4182Tyr) n.3788T>A c.12647T>A (p.Phe4216Tyr) c.12644T>A (p.Phe4215Tyr) c.12623T>A (p.Phe4208Tyr) c.12617T>A (p.Phe4206Tyr) c.12611T>A (p.Phe4204Tyr) c.12587T>A (p.Phe4196Tyr) c.12410T>A (p.Phe4137Tyr) c.12554T>A (p.Phe4185Tyr) c.12626T>A (p.Phe4209Tyr) | COSMIC COSMIC |
| 1 | g.237784305T>C | CA345413703 | RYR2 | c.*3685T>C (n.*3685T>C) c.12581T>C (p.Phe4194Ser) c.12614T>C (p.Phe4205Ser) c.4770T>C c.12593T>C (p.Phe4198Ser) c.2646T>C c.12545T>C (p.Phe4182Ser) n.3788T>C c.12647T>C (p.Phe4216Ser) c.12644T>C (p.Phe4215Ser) c.12623T>C (p.Phe4208Ser) c.12617T>C (p.Phe4206Ser) c.12611T>C (p.Phe4204Ser) c.12587T>C (p.Phe4196Ser) c.12410T>C (p.Phe4137Ser) c.12554T>C (p.Phe4185Ser) c.12626T>C (p.Phe4209Ser) | |
| 1 | g.237784305T>G | CA345413704 | RYR2 | c.*3685T>G (n.*3685T>G) c.12581T>G (p.Phe4194Cys) c.12614T>G (p.Phe4205Cys) c.4770T>G c.12593T>G (p.Phe4198Cys) c.2646T>G c.12545T>G (p.Phe4182Cys) n.3788T>G c.12647T>G (p.Phe4216Cys) c.12644T>G (p.Phe4215Cys) c.12623T>G (p.Phe4208Cys) c.12617T>G (p.Phe4206Cys) c.12611T>G (p.Phe4204Cys) c.12587T>G (p.Phe4196Cys) c.12410T>G (p.Phe4137Cys) c.12554T>G (p.Phe4185Cys) c.12626T>G (p.Phe4209Cys) | |
| 1 | g.237784306T>A | CA345413705 | RYR2 | c.*3686T>A (n.*3686T>A) c.12582T>A (p.Phe4194Leu) c.12615T>A (p.Phe4205Leu) c.4771T>A c.12594T>A (p.Phe4198Leu) c.2647T>A c.12546T>A (p.Phe4182Leu) n.3789T>A c.12648T>A (p.Phe4216Leu) c.12645T>A (p.Phe4215Leu) c.12624T>A (p.Phe4208Leu) c.12618T>A (p.Phe4206Leu) c.12612T>A (p.Phe4204Leu) c.12588T>A (p.Phe4196Leu) c.12411T>A (p.Phe4137Leu) c.12555T>A (p.Phe4185Leu) c.12627T>A (p.Phe4209Leu) | |
| 1 | g.237784306T>C | CA424032352 | RYR2 | c.*3686T>C (n.*3686T>C) c.12582T>C (p.Phe4194=) c.12615T>C (p.Phe4205=) c.4771T>C c.12594T>C (p.Phe4198=) c.2647T>C c.12546T>C (p.Phe4182=) n.3789T>C c.12648T>C (p.Phe4216=) c.12645T>C (p.Phe4215=) c.12624T>C (p.Phe4208=) c.12618T>C (p.Phe4206=) c.12612T>C (p.Phe4204=) c.12588T>C (p.Phe4196=) c.12411T>C (p.Phe4137=) c.12555T>C (p.Phe4185=) c.12627T>C (p.Phe4209=) | |
| 1 | g.237784306T>G | CA345413706 | RYR2 | c.*3686T>G (n.*3686T>G) c.12582T>G (p.Phe4194Leu) c.12615T>G (p.Phe4205Leu) c.4771T>G c.12594T>G (p.Phe4198Leu) c.2647T>G c.12546T>G (p.Phe4182Leu) n.3789T>G c.12648T>G (p.Phe4216Leu) c.12645T>G (p.Phe4215Leu) c.12624T>G (p.Phe4208Leu) c.12618T>G (p.Phe4206Leu) c.12612T>G (p.Phe4204Leu) c.12588T>G (p.Phe4196Leu) c.12411T>G (p.Phe4137Leu) c.12555T>G (p.Phe4185Leu) c.12627T>G (p.Phe4209Leu) | |
| 1 | g.237784307G>A | CA345413707 | RYR2 | c.*3687G>A (n.*3687G>A) c.12583G>A (p.Glu4195Lys) c.12616G>A (p.Glu4206Lys) c.4772G>A c.12595G>A (p.Glu4199Lys) c.2648G>A c.12547G>A (p.Glu4183Lys) n.3790G>A c.12649G>A (p.Glu4217Lys) c.12646G>A (p.Glu4216Lys) c.12625G>A (p.Glu4209Lys) c.12619G>A (p.Glu4207Lys) c.12613G>A (p.Glu4205Lys) c.12589G>A (p.Glu4197Lys) c.12412G>A (p.Glu4138Lys) c.12556G>A (p.Glu4186Lys) c.12628G>A (p.Glu4210Lys) | |
| 1 | g.237784307G>C | CA345413708 | RYR2 | c.*3687G>C (n.*3687G>C) c.12583G>C (p.Glu4195Gln) c.12616G>C (p.Glu4206Gln) c.4772G>C c.12595G>C (p.Glu4199Gln) c.2648G>C c.12547G>C (p.Glu4183Gln) n.3790G>C c.12649G>C (p.Glu4217Gln) c.12646G>C (p.Glu4216Gln) c.12625G>C (p.Glu4209Gln) c.12619G>C (p.Glu4207Gln) c.12613G>C (p.Glu4205Gln) c.12589G>C (p.Glu4197Gln) c.12412G>C (p.Glu4138Gln) c.12556G>C (p.Glu4186Gln) c.12628G>C (p.Glu4210Gln) | ClinVar |
| 1 | g.237784307G>T | CA345413709 | RYR2 | c.*3687G>T (n.*3687G>T) c.12583G>T (p.Glu4195Ter) c.12616G>T (p.Glu4206Ter) c.4772G>T c.12595G>T (p.Glu4199Ter) c.2648G>T c.12547G>T (p.Glu4183Ter) n.3790G>T c.12649G>T (p.Glu4217Ter) c.12646G>T (p.Glu4216Ter) c.12625G>T (p.Glu4209Ter) c.12619G>T (p.Glu4207Ter) c.12613G>T (p.Glu4205Ter) c.12589G>T (p.Glu4197Ter) c.12412G>T (p.Glu4138Ter) c.12556G>T (p.Glu4186Ter) c.12628G>T (p.Glu4210Ter) | |
| 1 | g.237784308A>C | CA345413710 | RYR2 | c.*3688A>C (n.*3688A>C) c.12584A>C (p.Glu4195Ala) c.12617A>C (p.Glu4206Ala) c.4773A>C c.12596A>C (p.Glu4199Ala) c.2649A>C c.12548A>C (p.Glu4183Ala) n.3791A>C c.12650A>C (p.Glu4217Ala) c.12647A>C (p.Glu4216Ala) c.12626A>C (p.Glu4209Ala) c.12620A>C (p.Glu4207Ala) c.12614A>C (p.Glu4205Ala) c.12590A>C (p.Glu4197Ala) c.12413A>C (p.Glu4138Ala) c.12557A>C (p.Glu4186Ala) c.12629A>C (p.Glu4210Ala) | |
| 1 | g.237784308A>G | CA345413711 | RYR2 | c.*3688A>G (n.*3688A>G) c.12584A>G (p.Glu4195Gly) c.12617A>G (p.Glu4206Gly) c.4773A>G c.12596A>G (p.Glu4199Gly) c.2649A>G c.12548A>G (p.Glu4183Gly) n.3791A>G c.12650A>G (p.Glu4217Gly) c.12647A>G (p.Glu4216Gly) c.12626A>G (p.Glu4209Gly) c.12620A>G (p.Glu4207Gly) c.12614A>G (p.Glu4205Gly) c.12590A>G (p.Glu4197Gly) c.12413A>G (p.Glu4138Gly) c.12557A>G (p.Glu4186Gly) c.12629A>G (p.Glu4210Gly) | |
| 1 | g.237784308A>T | CA345413712 | RYR2 | c.*3688A>T (n.*3688A>T) c.12584A>T (p.Glu4195Val) c.12617A>T (p.Glu4206Val) c.4773A>T c.12596A>T (p.Glu4199Val) c.2649A>T c.12548A>T (p.Glu4183Val) n.3791A>T c.12650A>T (p.Glu4217Val) c.12647A>T (p.Glu4216Val) c.12626A>T (p.Glu4209Val) c.12620A>T (p.Glu4207Val) c.12614A>T (p.Glu4205Val) c.12590A>T (p.Glu4197Val) c.12413A>T (p.Glu4138Val) c.12557A>T (p.Glu4186Val) c.12629A>T (p.Glu4210Val) | |
| 1 | g.237784309A>C | CA345413713 | RYR2 | c.*3689A>C (n.*3689A>C) c.12585A>C (p.Glu4195Asp) c.12618A>C (p.Glu4206Asp) c.4774A>C c.12597A>C (p.Glu4199Asp) c.2650A>C c.12549A>C (p.Glu4183Asp) n.3792A>C c.12651A>C (p.Glu4217Asp) c.12648A>C (p.Glu4216Asp) c.12627A>C (p.Glu4209Asp) c.12621A>C (p.Glu4207Asp) c.12615A>C (p.Glu4205Asp) c.12591A>C (p.Glu4197Asp) c.12414A>C (p.Glu4138Asp) c.12558A>C (p.Glu4186Asp) c.12630A>C (p.Glu4210Asp) | |
| 1 | g.237784309A>G | CA424032356 | RYR2 | c.*3689A>G (n.*3689A>G) c.12585A>G (p.Glu4195=) c.12618A>G (p.Glu4206=) c.4774A>G c.12597A>G (p.Glu4199=) c.2650A>G c.12549A>G (p.Glu4183=) n.3792A>G c.12651A>G (p.Glu4217=) c.12648A>G (p.Glu4216=) c.12627A>G (p.Glu4209=) c.12621A>G (p.Glu4207=) c.12615A>G (p.Glu4205=) c.12591A>G (p.Glu4197=) c.12414A>G (p.Glu4138=) c.12558A>G (p.Glu4186=) c.12630A>G (p.Glu4210=) | |
| 1 | g.237784309A>T | CA345413714 | RYR2 | c.*3689A>T (n.*3689A>T) c.12585A>T (p.Glu4195Asp) c.12618A>T (p.Glu4206Asp) c.4774A>T c.12597A>T (p.Glu4199Asp) c.2650A>T c.12549A>T (p.Glu4183Asp) n.3792A>T c.12651A>T (p.Glu4217Asp) c.12648A>T (p.Glu4216Asp) c.12627A>T (p.Glu4209Asp) c.12621A>T (p.Glu4207Asp) c.12615A>T (p.Glu4205Asp) c.12591A>T (p.Glu4197Asp) c.12414A>T (p.Glu4138Asp) c.12558A>T (p.Glu4186Asp) c.12630A>T (p.Glu4210Asp) | |
| 1 | g.237784310A>C | CA345413715 | RYR2 | c.*3690A>C (n.*3690A>C) c.12586A>C (p.Met4196Leu) c.12619A>C (p.Met4207Leu) c.4775A>C c.12598A>C (p.Met4200Leu) c.2651A>C c.12550A>C (p.Met4184Leu) n.3793A>C c.12652A>C (p.Met4218Leu) c.12649A>C (p.Met4217Leu) c.12628A>C (p.Met4210Leu) c.12622A>C (p.Met4208Leu) c.12616A>C (p.Met4206Leu) c.12592A>C (p.Met4198Leu) c.12415A>C (p.Met4139Leu) c.12559A>C (p.Met4187Leu) c.12631A>C (p.Met4211Leu) | |
| 1 | g.237784310A>G | CA345413717 | RYR2 | c.*3690A>G (n.*3690A>G) c.12586A>G (p.Met4196Val) c.12619A>G (p.Met4207Val) c.4775A>G c.12598A>G (p.Met4200Val) c.2651A>G c.12550A>G (p.Met4184Val) n.3793A>G c.12652A>G (p.Met4218Val) c.12649A>G (p.Met4217Val) c.12628A>G (p.Met4210Val) c.12622A>G (p.Met4208Val) c.12616A>G (p.Met4206Val) c.12592A>G (p.Met4198Val) c.12415A>G (p.Met4139Val) c.12559A>G (p.Met4187Val) c.12631A>G (p.Met4211Val) | |
| 1 | g.237784310A>T | CA345413716 | RYR2 | c.*3690A>T (n.*3690A>T) c.12586A>T (p.Met4196Leu) c.12619A>T (p.Met4207Leu) c.4775A>T c.12598A>T (p.Met4200Leu) c.2651A>T c.12550A>T (p.Met4184Leu) n.3793A>T c.12652A>T (p.Met4218Leu) c.12649A>T (p.Met4217Leu) c.12628A>T (p.Met4210Leu) c.12622A>T (p.Met4208Leu) c.12616A>T (p.Met4206Leu) c.12592A>T (p.Met4198Leu) c.12415A>T (p.Met4139Leu) c.12559A>T (p.Met4187Leu) c.12631A>T (p.Met4211Leu) | |
| 1 | g.237784311T>A | CA345413718 | RYR2 | c.*3691T>A (n.*3691T>A) c.12587T>A (p.Met4196Lys) c.12620T>A (p.Met4207Lys) c.4776T>A c.12599T>A (p.Met4200Lys) c.2652T>A c.12551T>A (p.Met4184Lys) n.3794T>A c.12653T>A (p.Met4218Lys) c.12650T>A (p.Met4217Lys) c.12629T>A (p.Met4210Lys) c.12623T>A (p.Met4208Lys) c.12617T>A (p.Met4206Lys) c.12593T>A (p.Met4198Lys) c.12416T>A (p.Met4139Lys) c.12560T>A (p.Met4187Lys) c.12632T>A (p.Met4211Lys) | |
| 1 | g.237784311T>C | CA345413719 | RYR2 | c.*3691T>C (n.*3691T>C) c.12587T>C (p.Met4196Thr) c.12620T>C (p.Met4207Thr) c.4776T>C c.12599T>C (p.Met4200Thr) c.2652T>C c.12551T>C (p.Met4184Thr) n.3794T>C c.12653T>C (p.Met4218Thr) c.12650T>C (p.Met4217Thr) c.12629T>C (p.Met4210Thr) c.12623T>C (p.Met4208Thr) c.12617T>C (p.Met4206Thr) c.12593T>C (p.Met4198Thr) c.12416T>C (p.Met4139Thr) c.12560T>C (p.Met4187Thr) c.12632T>C (p.Met4211Thr) | |
| 1 | g.237784311T>G | CA345413720 | RYR2 | c.*3691T>G (n.*3691T>G) c.12587T>G (p.Met4196Arg) c.12620T>G (p.Met4207Arg) c.4776T>G c.12599T>G (p.Met4200Arg) c.2652T>G c.12551T>G (p.Met4184Arg) n.3794T>G c.12653T>G (p.Met4218Arg) c.12650T>G (p.Met4217Arg) c.12629T>G (p.Met4210Arg) c.12623T>G (p.Met4208Arg) c.12617T>G (p.Met4206Arg) c.12593T>G (p.Met4198Arg) c.12416T>G (p.Met4139Arg) c.12560T>G (p.Met4187Arg) c.12632T>G (p.Met4211Arg) | |
| 1 | g.237784312G>A | CA345413721 | RYR2 | c.*3692G>A (n.*3692G>A) c.12588G>A (p.Met4196Ile) c.12621G>A (p.Met4207Ile) c.4777G>A c.12600G>A (p.Met4200Ile) c.2653G>A c.12552G>A (p.Met4184Ile) n.3795G>A c.12654G>A (p.Met4218Ile) c.12651G>A (p.Met4217Ile) c.12630G>A (p.Met4210Ile) c.12624G>A (p.Met4208Ile) c.12618G>A (p.Met4206Ile) c.12594G>A (p.Met4198Ile) c.12417G>A (p.Met4139Ile) c.12561G>A (p.Met4187Ile) c.12633G>A (p.Met4211Ile) | |
| 1 | g.237784312G>C | CA345413722 | RYR2 | c.*3692G>C (n.*3692G>C) c.12588G>C (p.Met4196Ile) c.12621G>C (p.Met4207Ile) c.4777G>C c.12600G>C (p.Met4200Ile) c.2653G>C c.12552G>C (p.Met4184Ile) n.3795G>C c.12654G>C (p.Met4218Ile) c.12651G>C (p.Met4217Ile) c.12630G>C (p.Met4210Ile) c.12624G>C (p.Met4208Ile) c.12618G>C (p.Met4206Ile) c.12594G>C (p.Met4198Ile) c.12417G>C (p.Met4139Ile) c.12561G>C (p.Met4187Ile) c.12633G>C (p.Met4211Ile) | |
| 1 | g.237784312G>T | CA345413723 | RYR2 | c.*3692G>T (n.*3692G>T) c.12588G>T (p.Met4196Ile) c.12621G>T (p.Met4207Ile) c.4777G>T c.12600G>T (p.Met4200Ile) c.2653G>T c.12552G>T (p.Met4184Ile) n.3795G>T c.12654G>T (p.Met4218Ile) c.12651G>T (p.Met4217Ile) c.12630G>T (p.Met4210Ile) c.12624G>T (p.Met4208Ile) c.12618G>T (p.Met4206Ile) c.12594G>T (p.Met4198Ile) c.12417G>T (p.Met4139Ile) c.12561G>T (p.Met4187Ile) c.12633G>T (p.Met4211Ile) | |
| 1 | g.237784313C>A | CA345413724 | RYR2 | c.*3693C>A (n.*3693C>A) c.12589C>A (p.Gln4197Lys) c.12622C>A (p.Gln4208Lys) c.4778C>A c.12601C>A (p.Gln4201Lys) c.2654C>A c.12553C>A (p.Gln4185Lys) n.3796C>A c.12655C>A (p.Gln4219Lys) c.12652C>A (p.Gln4218Lys) c.12631C>A (p.Gln4211Lys) c.12625C>A (p.Gln4209Lys) c.12619C>A (p.Gln4207Lys) c.12595C>A (p.Gln4199Lys) c.12418C>A (p.Gln4140Lys) c.12562C>A (p.Gln4188Lys) c.12634C>A (p.Gln4212Lys) | |
| 1 | g.237784313C>G | CA345413725 | RYR2 | c.*3693C>G (n.*3693C>G) c.12589C>G (p.Gln4197Glu) c.12622C>G (p.Gln4208Glu) c.4778C>G c.12601C>G (p.Gln4201Glu) c.2654C>G c.12553C>G (p.Gln4185Glu) n.3796C>G c.12655C>G (p.Gln4219Glu) c.12652C>G (p.Gln4218Glu) c.12631C>G (p.Gln4211Glu) c.12625C>G (p.Gln4209Glu) c.12619C>G (p.Gln4207Glu) c.12595C>G (p.Gln4199Glu) c.12418C>G (p.Gln4140Glu) c.12562C>G (p.Gln4188Glu) c.12634C>G (p.Gln4212Glu) | |
| 1 | g.237784313C>T | CA345413726 | RYR2 | c.*3693C>T (n.*3693C>T) c.12589C>T (p.Gln4197Ter) c.12622C>T (p.Gln4208Ter) c.4778C>T c.12601C>T (p.Gln4201Ter) c.2654C>T c.12553C>T (p.Gln4185Ter) n.3796C>T c.12655C>T (p.Gln4219Ter) c.12652C>T (p.Gln4218Ter) c.12631C>T (p.Gln4211Ter) c.12625C>T (p.Gln4209Ter) c.12619C>T (p.Gln4207Ter) c.12595C>T (p.Gln4199Ter) c.12418C>T (p.Gln4140Ter) c.12562C>T (p.Gln4188Ter) c.12634C>T (p.Gln4212Ter) | COSMIC COSMIC |
| 1 | g.237784314A= | CA1141581501 | RYR2 | c.*3694A= (n.*3694A=) c.12590A= (p.Gln4197=) c.12623A= (p.Gln4208=) c.4779A= c.12602A= (p.Gln4201=) c.2655A= c.12554A= (p.Gln4185=) n.3797A= c.12656A= (p.Gln4219=) c.12653A= (p.Gln4218=) c.12632A= (p.Gln4211=) c.12626A= (p.Gln4209=) c.12620A= (p.Gln4207=) c.12596A= (p.Gln4199=) c.12419A= (p.Gln4140=) c.12563A= (p.Gln4188=) c.12635A= (p.Gln4212=) | |
| 1 | g.237784314A>C | CA345413727 | RYR2 | c.*3694A>C (n.*3694A>C) c.12590A>C (p.Gln4197Pro) c.12623A>C (p.Gln4208Pro) c.4779A>C c.12602A>C (p.Gln4201Pro) c.2655A>C c.12554A>C (p.Gln4185Pro) n.3797A>C c.12656A>C (p.Gln4219Pro) c.12653A>C (p.Gln4218Pro) c.12632A>C (p.Gln4211Pro) c.12626A>C (p.Gln4209Pro) c.12620A>C (p.Gln4207Pro) c.12596A>C (p.Gln4199Pro) c.12419A>C (p.Gln4140Pro) c.12563A>C (p.Gln4188Pro) c.12635A>C (p.Gln4212Pro) | |
| 1 | g.237784314A>G | CA007638 | RYR2 | c.*3694A>G (n.*3694A>G) c.12590A>G (p.Gln4197Arg) c.12623A>G (p.Gln4208Arg) c.4779A>G c.12602A>G (p.Gln4201Arg) c.2655A>G c.12554A>G (p.Gln4185Arg) n.3797A>G c.12656A>G (p.Gln4219Arg) c.12653A>G (p.Gln4218Arg) c.12632A>G (p.Gln4211Arg) c.12626A>G (p.Gln4209Arg) c.12620A>G (p.Gln4207Arg) c.12596A>G (p.Gln4199Arg) c.12419A>G (p.Gln4140Arg) c.12563A>G (p.Gln4188Arg) c.12635A>G (p.Gln4212Arg) | ClinVar dbSNP |
| 1 | g.237784314A>T | CA345413728 | RYR2 | c.*3694A>T (n.*3694A>T) c.12590A>T (p.Gln4197Leu) c.12623A>T (p.Gln4208Leu) c.4779A>T c.12602A>T (p.Gln4201Leu) c.2655A>T c.12554A>T (p.Gln4185Leu) n.3797A>T c.12656A>T (p.Gln4219Leu) c.12653A>T (p.Gln4218Leu) c.12632A>T (p.Gln4211Leu) c.12626A>T (p.Gln4209Leu) c.12620A>T (p.Gln4207Leu) c.12596A>T (p.Gln4199Leu) c.12419A>T (p.Gln4140Leu) c.12563A>T (p.Gln4188Leu) c.12635A>T (p.Gln4212Leu) | |
| 1 | g.237784314_237784315del | CA2504304307 | RYR2 | c.*3694_*3695del (n.*3694_*3695del) c.12590_12591del (p.Gln4197ProfsTer17) c.12623_12624del (p.Gln4208ProfsTer17) c.4779_4780del c.12602_12603del (p.Gln4201ProfsTer17) c.2655_2656del c.12554_12555del (p.Gln4185ProfsTer17) n.3797_3798del c.12656_12657del (p.Gln4219ProfsTer17) c.12653_12654del (p.Gln4218ProfsTer17) c.12632_12633del (p.Gln4211ProfsTer17) c.12626_12627del (p.Gln4209ProfsTer17) c.12620_12621del (p.Gln4207ProfsTer17) c.12596_12597del (p.Gln4199ProfsTer17) c.12419_12420del (p.Gln4140ProfsTer17) c.12563_12564del (p.Gln4188ProfsTer17) c.12635_12636del (p.Gln4212ProfsTer17) | |
| 1 | g.237784315G>A | CA424032360 | RYR2 | c.*3695G>A (n.*3695G>A) c.12591G>A (p.Gln4197=) c.12624G>A (p.Gln4208=) c.4780G>A c.12603G>A (p.Gln4201=) c.2656G>A c.12555G>A (p.Gln4185=) n.3798G>A c.12657G>A (p.Gln4219=) c.12654G>A (p.Gln4218=) c.12633G>A (p.Gln4211=) c.12627G>A (p.Gln4209=) c.12621G>A (p.Gln4207=) c.12597G>A (p.Gln4199=) c.12420G>A (p.Gln4140=) c.12564G>A (p.Gln4188=) c.12636G>A (p.Gln4212=) | |
| 1 | g.237784315G>C | CA345413729 | RYR2 | c.*3695G>C (n.*3695G>C) c.12591G>C (p.Gln4197His) c.12624G>C (p.Gln4208His) c.4780G>C c.12603G>C (p.Gln4201His) c.2656G>C c.12555G>C (p.Gln4185His) n.3798G>C c.12657G>C (p.Gln4219His) c.12654G>C (p.Gln4218His) c.12633G>C (p.Gln4211His) c.12627G>C (p.Gln4209His) c.12621G>C (p.Gln4207His) c.12597G>C (p.Gln4199His) c.12420G>C (p.Gln4140His) c.12564G>C (p.Gln4188His) c.12636G>C (p.Gln4212His) | |
| 1 | g.237784315G>T | CA345413730 | RYR2 | c.*3695G>T (n.*3695G>T) c.12591G>T (p.Gln4197His) c.12624G>T (p.Gln4208His) c.4780G>T c.12603G>T (p.Gln4201His) c.2656G>T c.12555G>T (p.Gln4185His) n.3798G>T c.12657G>T (p.Gln4219His) c.12654G>T (p.Gln4218His) c.12633G>T (p.Gln4211His) c.12627G>T (p.Gln4209His) c.12621G>T (p.Gln4207His) c.12597G>T (p.Gln4199His) c.12420G>T (p.Gln4140His) c.12564G>T (p.Gln4188His) c.12636G>T (p.Gln4212His) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.237784316C>A | CA345413731 | RYR2 | c.*3696C>A (n.*3696C>A) c.12592C>A (p.Leu4198Met) c.12625C>A (p.Leu4209Met) c.4781C>A c.12604C>A (p.Leu4202Met) c.2657C>A c.12556C>A (p.Leu4186Met) n.3799C>A c.12658C>A (p.Leu4220Met) c.12655C>A (p.Leu4219Met) c.12634C>A (p.Leu4212Met) c.12628C>A (p.Leu4210Met) c.12622C>A (p.Leu4208Met) c.12598C>A (p.Leu4200Met) c.12421C>A (p.Leu4141Met) c.12565C>A (p.Leu4189Met) c.12637C>A (p.Leu4213Met) | |
| 1 | g.237784316C>G | CA345413732 | RYR2 | c.*3696C>G (n.*3696C>G) c.12592C>G (p.Leu4198Val) c.12625C>G (p.Leu4209Val) c.4781C>G c.12604C>G (p.Leu4202Val) c.2657C>G c.12556C>G (p.Leu4186Val) n.3799C>G c.12658C>G (p.Leu4220Val) c.12655C>G (p.Leu4219Val) c.12634C>G (p.Leu4212Val) c.12628C>G (p.Leu4210Val) c.12622C>G (p.Leu4208Val) c.12598C>G (p.Leu4200Val) c.12421C>G (p.Leu4141Val) c.12565C>G (p.Leu4189Val) c.12637C>G (p.Leu4213Val) | |
| 1 | g.237784316C>T | CA424032361 | RYR2 | c.*3696C>T (n.*3696C>T) c.12592C>T (p.Leu4198=) c.12625C>T (p.Leu4209=) c.4781C>T c.12604C>T (p.Leu4202=) c.2657C>T c.12556C>T (p.Leu4186=) n.3799C>T c.12658C>T (p.Leu4220=) c.12655C>T (p.Leu4219=) c.12634C>T (p.Leu4212=) c.12628C>T (p.Leu4210=) c.12622C>T (p.Leu4208=) c.12598C>T (p.Leu4200=) c.12421C>T (p.Leu4141=) c.12565C>T (p.Leu4189=) c.12637C>T (p.Leu4213=) | |
| 1 | g.237784317T>A | CA345413733 | RYR2 | c.*3697T>A (n.*3697T>A) c.12593T>A (p.Leu4198Gln) c.12626T>A (p.Leu4209Gln) c.4782T>A c.12605T>A (p.Leu4202Gln) c.2658T>A c.12557T>A (p.Leu4186Gln) n.3800T>A c.12659T>A (p.Leu4220Gln) c.12656T>A (p.Leu4219Gln) c.12635T>A (p.Leu4212Gln) c.12629T>A (p.Leu4210Gln) c.12623T>A (p.Leu4208Gln) c.12599T>A (p.Leu4200Gln) c.12422T>A (p.Leu4141Gln) c.12566T>A (p.Leu4189Gln) c.12638T>A (p.Leu4213Gln) | |
| 1 | g.237784317T>C | CA345413734 | RYR2 | c.*3697T>C (n.*3697T>C) c.12593T>C (p.Leu4198Pro) c.12626T>C (p.Leu4209Pro) c.4782T>C c.12605T>C (p.Leu4202Pro) c.2658T>C c.12557T>C (p.Leu4186Pro) n.3800T>C c.12659T>C (p.Leu4220Pro) c.12656T>C (p.Leu4219Pro) c.12635T>C (p.Leu4212Pro) c.12629T>C (p.Leu4210Pro) c.12623T>C (p.Leu4208Pro) c.12599T>C (p.Leu4200Pro) c.12422T>C (p.Leu4141Pro) c.12566T>C (p.Leu4189Pro) c.12638T>C (p.Leu4213Pro) | gnomAD v4 |
| 1 | g.237784317T>G | CA345413735 | RYR2 | c.*3697T>G (n.*3697T>G) c.12593T>G (p.Leu4198Arg) c.12626T>G (p.Leu4209Arg) c.4782T>G c.12605T>G (p.Leu4202Arg) c.2658T>G c.12557T>G (p.Leu4186Arg) n.3800T>G c.12659T>G (p.Leu4220Arg) c.12656T>G (p.Leu4219Arg) c.12635T>G (p.Leu4212Arg) c.12629T>G (p.Leu4210Arg) c.12623T>G (p.Leu4208Arg) c.12599T>G (p.Leu4200Arg) c.12422T>G (p.Leu4141Arg) c.12566T>G (p.Leu4189Arg) c.12638T>G (p.Leu4213Arg) | |
| 1 | g.237784318G>A | CA424032364 | RYR2 | c.*3698G>A (n.*3698G>A) c.12594G>A (p.Leu4198=) c.12627G>A (p.Leu4209=) c.4783G>A c.12606G>A (p.Leu4202=) c.2659G>A c.12558G>A (p.Leu4186=) n.3801G>A c.12660G>A (p.Leu4220=) c.12657G>A (p.Leu4219=) c.12636G>A (p.Leu4212=) c.12630G>A (p.Leu4210=) c.12624G>A (p.Leu4208=) c.12600G>A (p.Leu4200=) c.12423G>A (p.Leu4141=) c.12567G>A (p.Leu4189=) c.12639G>A (p.Leu4213=) | ClinVar dbSNP |
| 1 | g.237784318G>C | CA424032363 | RYR2 | c.*3698G>C (n.*3698G>C) c.12594G>C (p.Leu4198=) c.12627G>C (p.Leu4209=) c.4783G>C c.12606G>C (p.Leu4202=) c.2659G>C c.12558G>C (p.Leu4186=) n.3801G>C c.12660G>C (p.Leu4220=) c.12657G>C (p.Leu4219=) c.12636G>C (p.Leu4212=) c.12630G>C (p.Leu4210=) c.12624G>C (p.Leu4208=) c.12600G>C (p.Leu4200=) c.12423G>C (p.Leu4141=) c.12567G>C (p.Leu4189=) c.12639G>C (p.Leu4213=) | |
| 1 | g.237784318G>T | CA424032362 | RYR2 | c.*3698G>T (n.*3698G>T) c.12594G>T (p.Leu4198=) c.12627G>T (p.Leu4209=) c.4783G>T c.12606G>T (p.Leu4202=) c.2659G>T c.12558G>T (p.Leu4186=) n.3801G>T c.12660G>T (p.Leu4220=) c.12657G>T (p.Leu4219=) c.12636G>T (p.Leu4212=) c.12630G>T (p.Leu4210=) c.12624G>T (p.Leu4208=) c.12600G>T (p.Leu4200=) c.12423G>T (p.Leu4141=) c.12567G>T (p.Leu4189=) c.12639G>T (p.Leu4213=) | |
| 1 | g.237784319G>A | CA066522 | RYR2 | c.*3699G>A (n.*3699G>A) c.12595G>A (p.Ala4199Thr) c.12628G>A (p.Ala4210Thr) c.4784G>A c.12607G>A (p.Ala4203Thr) c.2660G>A c.12559G>A (p.Ala4187Thr) n.3802G>A c.12661G>A (p.Ala4221Thr) c.12658G>A (p.Ala4220Thr) c.12637G>A (p.Ala4213Thr) c.12631G>A (p.Ala4211Thr) c.12625G>A (p.Ala4209Thr) c.12601G>A (p.Ala4201Thr) c.12424G>A (p.Ala4142Thr) c.12568G>A (p.Ala4190Thr) c.12640G>A (p.Ala4214Thr) | |
| 1 | g.237784319G>C | CA345413736 | RYR2 | c.*3699G>C (n.*3699G>C) c.12595G>C (p.Ala4199Pro) c.12628G>C (p.Ala4210Pro) c.4784G>C c.12607G>C (p.Ala4203Pro) c.2660G>C c.12559G>C (p.Ala4187Pro) n.3802G>C c.12661G>C (p.Ala4221Pro) c.12658G>C (p.Ala4220Pro) c.12637G>C (p.Ala4213Pro) c.12631G>C (p.Ala4211Pro) c.12625G>C (p.Ala4209Pro) c.12601G>C (p.Ala4201Pro) c.12424G>C (p.Ala4142Pro) c.12568G>C (p.Ala4190Pro) c.12640G>C (p.Ala4214Pro) | |
| 1 | g.237784319G>T | CA345413737 | RYR2 | c.*3699G>T (n.*3699G>T) c.12595G>T (p.Ala4199Ser) c.12628G>T (p.Ala4210Ser) c.4784G>T c.12607G>T (p.Ala4203Ser) c.2660G>T c.12559G>T (p.Ala4187Ser) n.3802G>T c.12661G>T (p.Ala4221Ser) c.12658G>T (p.Ala4220Ser) c.12637G>T (p.Ala4213Ser) c.12631G>T (p.Ala4211Ser) c.12625G>T (p.Ala4209Ser) c.12601G>T (p.Ala4201Ser) c.12424G>T (p.Ala4142Ser) c.12568G>T (p.Ala4190Ser) c.12640G>T (p.Ala4214Ser) | |
| 1 | g.237784320del | CA2517805848 | RYR2 | c.*3700del (n.*3700del) c.12596del (p.Ala4199GlyfsTer9) c.12629del (p.Ala4210GlyfsTer9) c.4785del c.12608del (p.Ala4203GlyfsTer9) c.2661del c.12560del (p.Ala4187GlyfsTer9) n.3803del c.12662del (p.Ala4221GlyfsTer9) c.12659del (p.Ala4220GlyfsTer9) c.12638del (p.Ala4213GlyfsTer9) c.12632del (p.Ala4211GlyfsTer9) c.12626del (p.Ala4209GlyfsTer9) c.12602del (p.Ala4201GlyfsTer9) c.12425del (p.Ala4142GlyfsTer9) c.12569del (p.Ala4190GlyfsTer9) c.12641del (p.Ala4214GlyfsTer9) | |
| 1 | g.237784320C>A | CA345413738 | RYR2 | c.*3700C>A (n.*3700C>A) c.12596C>A (p.Ala4199Glu) c.12629C>A (p.Ala4210Glu) c.4785C>A c.12608C>A (p.Ala4203Glu) c.2661C>A c.12560C>A (p.Ala4187Glu) n.3803C>A c.12662C>A (p.Ala4221Glu) c.12659C>A (p.Ala4220Glu) c.12638C>A (p.Ala4213Glu) c.12632C>A (p.Ala4211Glu) c.12626C>A (p.Ala4209Glu) c.12602C>A (p.Ala4201Glu) c.12425C>A (p.Ala4142Glu) c.12569C>A (p.Ala4190Glu) c.12641C>A (p.Ala4214Glu) | |
| 1 | g.237784320C= | CA2487482473 | RYR2 | c.*3700C= (n.*3700C=) c.12596C= (p.Ala4199=) c.12629C= (p.Ala4210=) c.4785C= c.12608C= (p.Ala4203=) c.2661C= c.12560C= (p.Ala4187=) n.3803C= c.12662C= (p.Ala4221=) c.12659C= (p.Ala4220=) c.12638C= (p.Ala4213=) c.12632C= (p.Ala4211=) c.12626C= (p.Ala4209=) c.12602C= (p.Ala4201=) c.12425C= (p.Ala4142=) c.12569C= (p.Ala4190=) c.12641C= (p.Ala4214=) | |
| 1 | g.237784320C>G | CA345413739 | RYR2 | c.*3700C>G (n.*3700C>G) c.12596C>G (p.Ala4199Gly) c.12629C>G (p.Ala4210Gly) c.4785C>G c.12608C>G (p.Ala4203Gly) c.2661C>G c.12560C>G (p.Ala4187Gly) n.3803C>G c.12662C>G (p.Ala4221Gly) c.12659C>G (p.Ala4220Gly) c.12638C>G (p.Ala4213Gly) c.12632C>G (p.Ala4211Gly) c.12626C>G (p.Ala4209Gly) c.12602C>G (p.Ala4201Gly) c.12425C>G (p.Ala4142Gly) c.12569C>G (p.Ala4190Gly) c.12641C>G (p.Ala4214Gly) | |
| 1 | g.237784320C>T | CA007648 | RYR2 | c.*3700C>T (n.*3700C>T) c.12596C>T (p.Ala4199Val) c.12629C>T (p.Ala4210Val) c.4785C>T c.12608C>T (p.Ala4203Val) c.2661C>T c.12560C>T (p.Ala4187Val) n.3803C>T c.12662C>T (p.Ala4221Val) c.12659C>T (p.Ala4220Val) c.12638C>T (p.Ala4213Val) c.12632C>T (p.Ala4211Val) c.12626C>T (p.Ala4209Val) c.12602C>T (p.Ala4201Val) c.12425C>T (p.Ala4142Val) c.12569C>T (p.Ala4190Val) c.12641C>T (p.Ala4214Val) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237784321G>A | CA085202 | RYR2 | c.*3701G>A (n.*3701G>A) c.12597G>A (p.Ala4199=) c.12630G>A (p.Ala4210=) c.4786G>A c.12609G>A (p.Ala4203=) c.2662G>A c.12561G>A (p.Ala4187=) n.3804G>A c.12663G>A (p.Ala4221=) c.12660G>A (p.Ala4220=) c.12639G>A (p.Ala4213=) c.12633G>A (p.Ala4211=) c.12627G>A (p.Ala4209=) c.12603G>A (p.Ala4201=) c.12426G>A (p.Ala4142=) c.12570G>A (p.Ala4190=) c.12642G>A (p.Ala4214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784321G>C | CA424032037 | RYR2 | c.*3701G>C (n.*3701G>C) c.12597G>C (p.Ala4199=) c.12630G>C (p.Ala4210=) c.4786G>C c.12609G>C (p.Ala4203=) c.2662G>C c.12561G>C (p.Ala4187=) n.3804G>C c.12663G>C (p.Ala4221=) c.12660G>C (p.Ala4220=) c.12639G>C (p.Ala4213=) c.12633G>C (p.Ala4211=) c.12627G>C (p.Ala4209=) c.12603G>C (p.Ala4201=) c.12426G>C (p.Ala4142=) c.12570G>C (p.Ala4190=) c.12642G>C (p.Ala4214=) | |
| 1 | g.237784321G= | CA1143896152 | RYR2 | c.*3701G= (n.*3701G=) c.12597G= (p.Ala4199=) c.12630G= (p.Ala4210=) c.4786G= c.12609G= (p.Ala4203=) c.2662G= c.12561G= (p.Ala4187=) n.3804G= c.12663G= (p.Ala4221=) c.12660G= (p.Ala4220=) c.12639G= (p.Ala4213=) c.12633G= (p.Ala4211=) c.12627G= (p.Ala4209=) c.12603G= (p.Ala4201=) c.12426G= (p.Ala4142=) c.12570G= (p.Ala4190=) c.12642G= (p.Ala4214=) | |
| 1 | g.237784321G>T | CA085203 | RYR2 | c.*3701G>T (n.*3701G>T) c.12597G>T (p.Ala4199=) c.12630G>T (p.Ala4210=) c.4786G>T c.12609G>T (p.Ala4203=) c.2662G>T c.12561G>T (p.Ala4187=) n.3804G>T c.12663G>T (p.Ala4221=) c.12660G>T (p.Ala4220=) c.12639G>T (p.Ala4213=) c.12633G>T (p.Ala4211=) c.12627G>T (p.Ala4209=) c.12603G>T (p.Ala4201=) c.12426G>T (p.Ala4142=) c.12570G>T (p.Ala4190=) c.12642G>T (p.Ala4214=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237784322G>A | CA345413740 | RYR2 | c.*3702G>A (n.*3702G>A) c.12598G>A (p.Ala4200Thr) c.12631G>A (p.Ala4211Thr) c.4787G>A c.12610G>A (p.Ala4204Thr) c.2663G>A c.12562G>A (p.Ala4188Thr) n.3805G>A c.12664G>A (p.Ala4222Thr) c.12661G>A (p.Ala4221Thr) c.12640G>A (p.Ala4214Thr) c.12634G>A (p.Ala4212Thr) c.12628G>A (p.Ala4210Thr) c.12604G>A (p.Ala4202Thr) c.12427G>A (p.Ala4143Thr) c.12571G>A (p.Ala4191Thr) c.12643G>A (p.Ala4215Thr) | |
| 1 | g.237784322G>C | CA345413742 | RYR2 | c.*3702G>C (n.*3702G>C) c.12598G>C (p.Ala4200Pro) c.12631G>C (p.Ala4211Pro) c.4787G>C c.12610G>C (p.Ala4204Pro) c.2663G>C c.12562G>C (p.Ala4188Pro) n.3805G>C c.12664G>C (p.Ala4222Pro) c.12661G>C (p.Ala4221Pro) c.12640G>C (p.Ala4214Pro) c.12634G>C (p.Ala4212Pro) c.12628G>C (p.Ala4210Pro) c.12604G>C (p.Ala4202Pro) c.12427G>C (p.Ala4143Pro) c.12571G>C (p.Ala4191Pro) c.12643G>C (p.Ala4215Pro) | |
| 1 | g.237784322G>T | CA345413741 | RYR2 | c.*3702G>T (n.*3702G>T) c.12598G>T (p.Ala4200Ser) c.12631G>T (p.Ala4211Ser) c.4787G>T c.12610G>T (p.Ala4204Ser) c.2663G>T c.12562G>T (p.Ala4188Ser) n.3805G>T c.12664G>T (p.Ala4222Ser) c.12661G>T (p.Ala4221Ser) c.12640G>T (p.Ala4214Ser) c.12634G>T (p.Ala4212Ser) c.12628G>T (p.Ala4210Ser) c.12604G>T (p.Ala4202Ser) c.12427G>T (p.Ala4143Ser) c.12571G>T (p.Ala4191Ser) c.12643G>T (p.Ala4215Ser) | |
| 1 | g.237784323C>A | CA345413743 | RYR2 | c.*3703C>A (n.*3703C>A) c.12599C>A (p.Ala4200Asp) c.12632C>A (p.Ala4211Asp) c.4788C>A c.12611C>A (p.Ala4204Asp) c.2664C>A c.12563C>A (p.Ala4188Asp) n.3806C>A c.12665C>A (p.Ala4222Asp) c.12662C>A (p.Ala4221Asp) c.12641C>A (p.Ala4214Asp) c.12635C>A (p.Ala4212Asp) c.12629C>A (p.Ala4210Asp) c.12605C>A (p.Ala4202Asp) c.12428C>A (p.Ala4143Asp) c.12572C>A (p.Ala4191Asp) c.12644C>A (p.Ala4215Asp) | |
| 1 | g.237784323C= | CA2487482474 | RYR2 | c.*3703C= (n.*3703C=) c.12599C= (p.Ala4200=) c.12632C= (p.Ala4211=) c.4788C= c.12611C= (p.Ala4204=) c.2664C= c.12563C= (p.Ala4188=) n.3806C= c.12665C= (p.Ala4222=) c.12662C= (p.Ala4221=) c.12641C= (p.Ala4214=) c.12635C= (p.Ala4212=) c.12629C= (p.Ala4210=) c.12605C= (p.Ala4202=) c.12428C= (p.Ala4143=) c.12572C= (p.Ala4191=) c.12644C= (p.Ala4215=) | |
| 1 | g.237784323C>G | CA345413744 | RYR2 | c.*3703C>G (n.*3703C>G) c.12599C>G (p.Ala4200Gly) c.12632C>G (p.Ala4211Gly) c.4788C>G c.12611C>G (p.Ala4204Gly) c.2664C>G c.12563C>G (p.Ala4188Gly) n.3806C>G c.12665C>G (p.Ala4222Gly) c.12662C>G (p.Ala4221Gly) c.12641C>G (p.Ala4214Gly) c.12635C>G (p.Ala4212Gly) c.12629C>G (p.Ala4210Gly) c.12605C>G (p.Ala4202Gly) c.12428C>G (p.Ala4143Gly) c.12572C>G (p.Ala4191Gly) c.12644C>G (p.Ala4215Gly) | |
| 1 | g.237784323C>T | CA007658 | RYR2 | c.*3703C>T (n.*3703C>T) c.12599C>T (p.Ala4200Val) c.12632C>T (p.Ala4211Val) c.4788C>T c.12611C>T (p.Ala4204Val) c.2664C>T c.12563C>T (p.Ala4188Val) n.3806C>T c.12665C>T (p.Ala4222Val) c.12662C>T (p.Ala4221Val) c.12641C>T (p.Ala4214Val) c.12635C>T (p.Ala4212Val) c.12629C>T (p.Ala4210Val) c.12605C>T (p.Ala4202Val) c.12428C>T (p.Ala4143Val) c.12572C>T (p.Ala4191Val) c.12644C>T (p.Ala4215Val) | ClinVar dbSNP |
| 1 | g.237784324T>A | CA424032044 | RYR2 | c.*3704T>A (n.*3704T>A) c.12600T>A (p.Ala4200=) c.12633T>A (p.Ala4211=) c.4789T>A c.12612T>A (p.Ala4204=) c.2665T>A c.12564T>A (p.Ala4188=) n.3807T>A c.12666T>A (p.Ala4222=) c.12663T>A (p.Ala4221=) c.12642T>A (p.Ala4214=) c.12636T>A (p.Ala4212=) c.12630T>A (p.Ala4210=) c.12606T>A (p.Ala4202=) c.12429T>A (p.Ala4143=) c.12573T>A (p.Ala4191=) c.12645T>A (p.Ala4215=) | |
| 1 | g.237784324T>C | CA424032047 | RYR2 | c.*3704T>C (n.*3704T>C) c.12600T>C (p.Ala4200=) c.12633T>C (p.Ala4211=) c.4789T>C c.12612T>C (p.Ala4204=) c.2665T>C c.12564T>C (p.Ala4188=) n.3807T>C c.12666T>C (p.Ala4222=) c.12663T>C (p.Ala4221=) c.12642T>C (p.Ala4214=) c.12636T>C (p.Ala4212=) c.12630T>C (p.Ala4210=) c.12606T>C (p.Ala4202=) c.12429T>C (p.Ala4143=) c.12573T>C (p.Ala4191=) c.12645T>C (p.Ala4215=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784324T>G | CA424032045 | RYR2 | c.*3704T>G (n.*3704T>G) c.12600T>G (p.Ala4200=) c.12633T>G (p.Ala4211=) c.4789T>G c.12612T>G (p.Ala4204=) c.2665T>G c.12564T>G (p.Ala4188=) n.3807T>G c.12666T>G (p.Ala4222=) c.12663T>G (p.Ala4221=) c.12642T>G (p.Ala4214=) c.12636T>G (p.Ala4212=) c.12630T>G (p.Ala4210=) c.12606T>G (p.Ala4202=) c.12429T>G (p.Ala4143=) c.12573T>G (p.Ala4191=) c.12645T>G (p.Ala4215=) | |
| 1 | g.237784324T= | CA2487482475 | RYR2 | c.*3704T= (n.*3704T=) c.12600T= (p.Ala4200=) c.12633T= (p.Ala4211=) c.4789T= c.12612T= (p.Ala4204=) c.2665T= c.12564T= (p.Ala4188=) n.3807T= c.12666T= (p.Ala4222=) c.12663T= (p.Ala4221=) c.12642T= (p.Ala4214=) c.12636T= (p.Ala4212=) c.12630T= (p.Ala4210=) c.12606T= (p.Ala4202=) c.12429T= (p.Ala4143=) c.12573T= (p.Ala4191=) c.12645T= (p.Ala4215=) | |
| 1 | g.237784325C>A | CA345413745 | RYR2 | c.*3705C>A (n.*3705C>A) c.12601C>A (p.Gln4201Lys) c.12634C>A (p.Gln4212Lys) c.4790C>A c.12613C>A (p.Gln4205Lys) c.2666C>A c.12565C>A (p.Gln4189Lys) n.3808C>A c.12667C>A (p.Gln4223Lys) c.12664C>A (p.Gln4222Lys) c.12643C>A (p.Gln4215Lys) c.12637C>A (p.Gln4213Lys) c.12631C>A (p.Gln4211Lys) c.12607C>A (p.Gln4203Lys) c.12430C>A (p.Gln4144Lys) c.12574C>A (p.Gln4192Lys) c.12646C>A (p.Gln4216Lys) | |
| 1 | g.237784325C>G | CA345413746 | RYR2 | c.*3705C>G (n.*3705C>G) c.12601C>G (p.Gln4201Glu) c.12634C>G (p.Gln4212Glu) c.4790C>G c.12613C>G (p.Gln4205Glu) c.2666C>G c.12565C>G (p.Gln4189Glu) n.3808C>G c.12667C>G (p.Gln4223Glu) c.12664C>G (p.Gln4222Glu) c.12643C>G (p.Gln4215Glu) c.12637C>G (p.Gln4213Glu) c.12631C>G (p.Gln4211Glu) c.12607C>G (p.Gln4203Glu) c.12430C>G (p.Gln4144Glu) c.12574C>G (p.Gln4192Glu) c.12646C>G (p.Gln4216Glu) | |
| 1 | g.237784325C>T | CA345413747 | RYR2 | c.*3705C>T (n.*3705C>T) c.12601C>T (p.Gln4201Ter) c.12634C>T (p.Gln4212Ter) c.4790C>T c.12613C>T (p.Gln4205Ter) c.2666C>T c.12565C>T (p.Gln4189Ter) n.3808C>T c.12667C>T (p.Gln4223Ter) c.12664C>T (p.Gln4222Ter) c.12643C>T (p.Gln4215Ter) c.12637C>T (p.Gln4213Ter) c.12631C>T (p.Gln4211Ter) c.12607C>T (p.Gln4203Ter) c.12430C>T (p.Gln4144Ter) c.12574C>T (p.Gln4192Ter) c.12646C>T (p.Gln4216Ter) | |
| 1 | g.237784326A>C | CA345413748 | RYR2 | c.*3706A>C (n.*3706A>C) c.12602A>C (p.Gln4201Pro) c.12635A>C (p.Gln4212Pro) c.4791A>C c.12614A>C (p.Gln4205Pro) c.2667A>C c.12566A>C (p.Gln4189Pro) n.3809A>C c.12668A>C (p.Gln4223Pro) c.12665A>C (p.Gln4222Pro) c.12644A>C (p.Gln4215Pro) c.12638A>C (p.Gln4213Pro) c.12632A>C (p.Gln4211Pro) c.12608A>C (p.Gln4203Pro) c.12431A>C (p.Gln4144Pro) c.12575A>C (p.Gln4192Pro) c.12647A>C (p.Gln4216Pro) | |
| 1 | g.237784326A>G | CA345413749 | RYR2 | c.*3706A>G (n.*3706A>G) c.12602A>G (p.Gln4201Arg) c.12635A>G (p.Gln4212Arg) c.4791A>G c.12614A>G (p.Gln4205Arg) c.2667A>G c.12566A>G (p.Gln4189Arg) n.3809A>G c.12668A>G (p.Gln4223Arg) c.12665A>G (p.Gln4222Arg) c.12644A>G (p.Gln4215Arg) c.12638A>G (p.Gln4213Arg) c.12632A>G (p.Gln4211Arg) c.12608A>G (p.Gln4203Arg) c.12431A>G (p.Gln4144Arg) c.12575A>G (p.Gln4192Arg) c.12647A>G (p.Gln4216Arg) | ClinVar |
| 1 | g.237784326A>T | CA345413750 | RYR2 | c.*3706A>T (n.*3706A>T) c.12602A>T (p.Gln4201Leu) c.12635A>T (p.Gln4212Leu) c.4791A>T c.12614A>T (p.Gln4205Leu) c.2667A>T c.12566A>T (p.Gln4189Leu) n.3809A>T c.12668A>T (p.Gln4223Leu) c.12665A>T (p.Gln4222Leu) c.12644A>T (p.Gln4215Leu) c.12638A>T (p.Gln4213Leu) c.12632A>T (p.Gln4211Leu) c.12608A>T (p.Gln4203Leu) c.12431A>T (p.Gln4144Leu) c.12575A>T (p.Gln4192Leu) c.12647A>T (p.Gln4216Leu) | |
| 1 | g.237784327G>A | CA424032054 | RYR2 | c.*3707G>A (n.*3707G>A) c.12603G>A (p.Gln4201=) c.12636G>A (p.Gln4212=) c.4792G>A c.12615G>A (p.Gln4205=) c.2668G>A c.12567G>A (p.Gln4189=) n.3810G>A c.12669G>A (p.Gln4223=) c.12666G>A (p.Gln4222=) c.12645G>A (p.Gln4215=) c.12639G>A (p.Gln4213=) c.12633G>A (p.Gln4211=) c.12609G>A (p.Gln4203=) c.12432G>A (p.Gln4144=) c.12576G>A (p.Gln4192=) c.12648G>A (p.Gln4216=) | COSMIC COSMIC |
| 1 | g.237784327G>C | CA345413751 | RYR2 | c.*3707G>C (n.*3707G>C) c.12603G>C (p.Gln4201His) c.12636G>C (p.Gln4212His) c.4792G>C c.12615G>C (p.Gln4205His) c.2668G>C c.12567G>C (p.Gln4189His) n.3810G>C c.12669G>C (p.Gln4223His) c.12666G>C (p.Gln4222His) c.12645G>C (p.Gln4215His) c.12639G>C (p.Gln4213His) c.12633G>C (p.Gln4211His) c.12609G>C (p.Gln4203His) c.12432G>C (p.Gln4144His) c.12576G>C (p.Gln4192His) c.12648G>C (p.Gln4216His) | gnomAD v4 |
| 1 | g.237784327G>T | CA345413752 | RYR2 | c.*3707G>T (n.*3707G>T) c.12603G>T (p.Gln4201His) c.12636G>T (p.Gln4212His) c.4792G>T c.12615G>T (p.Gln4205His) c.2668G>T c.12567G>T (p.Gln4189His) n.3810G>T c.12669G>T (p.Gln4223His) c.12666G>T (p.Gln4222His) c.12645G>T (p.Gln4215His) c.12639G>T (p.Gln4213His) c.12633G>T (p.Gln4211His) c.12609G>T (p.Gln4203His) c.12432G>T (p.Gln4144His) c.12576G>T (p.Gln4192His) c.12648G>T (p.Gln4216His) | |
| 1 | g.237784328A>C | CA345413755 | RYR2 | c.*3708A>C (n.*3708A>C) c.12604A>C (p.Ile4202Leu) c.12637A>C (p.Ile4213Leu) c.4793A>C c.12616A>C (p.Ile4206Leu) c.2669A>C c.12568A>C (p.Ile4190Leu) n.3811A>C c.12670A>C (p.Ile4224Leu) c.12667A>C (p.Ile4223Leu) c.12646A>C (p.Ile4216Leu) c.12640A>C (p.Ile4214Leu) c.12634A>C (p.Ile4212Leu) c.12610A>C (p.Ile4204Leu) c.12433A>C (p.Ile4145Leu) c.12577A>C (p.Ile4193Leu) c.12649A>C (p.Ile4217Leu) | |
| 1 | g.237784328A>G | CA345413754 | RYR2 | c.*3708A>G (n.*3708A>G) c.12604A>G (p.Ile4202Val) c.12637A>G (p.Ile4213Val) c.4793A>G c.12616A>G (p.Ile4206Val) c.2669A>G c.12568A>G (p.Ile4190Val) n.3811A>G c.12670A>G (p.Ile4224Val) c.12667A>G (p.Ile4223Val) c.12646A>G (p.Ile4216Val) c.12640A>G (p.Ile4214Val) c.12634A>G (p.Ile4212Val) c.12610A>G (p.Ile4204Val) c.12433A>G (p.Ile4145Val) c.12577A>G (p.Ile4193Val) c.12649A>G (p.Ile4217Val) | |
| 1 | g.237784328A>T | CA345413753 | RYR2 | c.*3708A>T (n.*3708A>T) c.12604A>T (p.Ile4202Phe) c.12637A>T (p.Ile4213Phe) c.4793A>T c.12616A>T (p.Ile4206Phe) c.2669A>T c.12568A>T (p.Ile4190Phe) n.3811A>T c.12670A>T (p.Ile4224Phe) c.12667A>T (p.Ile4223Phe) c.12646A>T (p.Ile4216Phe) c.12640A>T (p.Ile4214Phe) c.12634A>T (p.Ile4212Phe) c.12610A>T (p.Ile4204Phe) c.12433A>T (p.Ile4145Phe) c.12577A>T (p.Ile4193Phe) c.12649A>T (p.Ile4217Phe) | |
| 1 | g.237784329T>A | CA345413756 | RYR2 | c.*3709T>A (n.*3709T>A) c.12605T>A (p.Ile4202Asn) c.12638T>A (p.Ile4213Asn) c.4794T>A c.12617T>A (p.Ile4206Asn) c.2670T>A c.12569T>A (p.Ile4190Asn) n.3812T>A c.12671T>A (p.Ile4224Asn) c.12668T>A (p.Ile4223Asn) c.12647T>A (p.Ile4216Asn) c.12641T>A (p.Ile4214Asn) c.12635T>A (p.Ile4212Asn) c.12611T>A (p.Ile4204Asn) c.12434T>A (p.Ile4145Asn) c.12578T>A (p.Ile4193Asn) c.12650T>A (p.Ile4217Asn) | gnomAD v4 |
| 1 | g.237784329T>C | CA345413757 | RYR2 | c.*3709T>C (n.*3709T>C) c.12605T>C (p.Ile4202Thr) c.12638T>C (p.Ile4213Thr) c.4794T>C c.12617T>C (p.Ile4206Thr) c.2670T>C c.12569T>C (p.Ile4190Thr) n.3812T>C c.12671T>C (p.Ile4224Thr) c.12668T>C (p.Ile4223Thr) c.12647T>C (p.Ile4216Thr) c.12641T>C (p.Ile4214Thr) c.12635T>C (p.Ile4212Thr) c.12611T>C (p.Ile4204Thr) c.12434T>C (p.Ile4145Thr) c.12578T>C (p.Ile4193Thr) c.12650T>C (p.Ile4217Thr) | |
| 1 | g.237784329T>G | CA345413758 | RYR2 | c.*3709T>G (n.*3709T>G) c.12605T>G (p.Ile4202Ser) c.12638T>G (p.Ile4213Ser) c.4794T>G c.12617T>G (p.Ile4206Ser) c.2670T>G c.12569T>G (p.Ile4190Ser) n.3812T>G c.12671T>G (p.Ile4224Ser) c.12668T>G (p.Ile4223Ser) c.12647T>G (p.Ile4216Ser) c.12641T>G (p.Ile4214Ser) c.12635T>G (p.Ile4212Ser) c.12611T>G (p.Ile4204Ser) c.12434T>G (p.Ile4145Ser) c.12578T>G (p.Ile4193Ser) c.12650T>G (p.Ile4217Ser) | |
| 1 | g.237784329_237784331del | CA2573051535 | RYR2 | c.*3709_*3711del (n.*3709_*3711del) c.12605_12607del (p.Ile4202_Ser4203delinsThr) c.12638_12640del (p.Ile4213_Ser4214delinsThr) c.4794_4796del c.12617_12619del (p.Ile4206_Ser4207delinsThr) c.2670_2672del c.12569_12571del (p.Ile4190_Ser4191delinsThr) n.3812_3814del c.12671_12673del (p.Ile4224_Ser4225delinsThr) c.12668_12670del (p.Ile4223_Ser4224delinsThr) c.12647_12649del (p.Ile4216_Ser4217delinsThr) c.12641_12643del (p.Ile4214_Ser4215delinsThr) c.12635_12637del (p.Ile4212_Ser4213delinsThr) c.12611_12613del (p.Ile4204_Ser4205delinsThr) c.12434_12436del (p.Ile4145_Ser4146delinsThr) c.12578_12580del (p.Ile4193_Ser4194delinsThr) c.12650_12652del (p.Ile4217_Ser4218delinsThr) | ClinVar dbSNP |
| 1 | g.237784330C>A | CA424032062 | RYR2 | c.*3710C>A (n.*3710C>A) c.12606C>A (p.Ile4202=) c.12639C>A (p.Ile4213=) c.4795C>A c.12618C>A (p.Ile4206=) c.2671C>A c.12570C>A (p.Ile4190=) n.3813C>A c.12672C>A (p.Ile4224=) c.12669C>A (p.Ile4223=) c.12648C>A (p.Ile4216=) c.12642C>A (p.Ile4214=) c.12636C>A (p.Ile4212=) c.12612C>A (p.Ile4204=) c.12435C>A (p.Ile4145=) c.12579C>A (p.Ile4193=) c.12651C>A (p.Ile4217=) | |
| 1 | g.237784330C>G | CA345413759 | RYR2 | c.*3710C>G (n.*3710C>G) c.12606C>G (p.Ile4202Met) c.12639C>G (p.Ile4213Met) c.4795C>G c.12618C>G (p.Ile4206Met) c.2671C>G c.12570C>G (p.Ile4190Met) n.3813C>G c.12672C>G (p.Ile4224Met) c.12669C>G (p.Ile4223Met) c.12648C>G (p.Ile4216Met) c.12642C>G (p.Ile4214Met) c.12636C>G (p.Ile4212Met) c.12612C>G (p.Ile4204Met) c.12435C>G (p.Ile4145Met) c.12579C>G (p.Ile4193Met) c.12651C>G (p.Ile4217Met) | |
| 1 | g.237784330C>T | CA424032064 | RYR2 | c.*3710C>T (n.*3710C>T) c.12606C>T (p.Ile4202=) c.12639C>T (p.Ile4213=) c.4795C>T c.12618C>T (p.Ile4206=) c.2671C>T c.12570C>T (p.Ile4190=) n.3813C>T c.12672C>T (p.Ile4224=) c.12669C>T (p.Ile4223=) c.12648C>T (p.Ile4216=) c.12642C>T (p.Ile4214=) c.12636C>T (p.Ile4212=) c.12612C>T (p.Ile4204=) c.12435C>T (p.Ile4145=) c.12579C>T (p.Ile4193=) c.12651C>T (p.Ile4217=) | |
| 1 | g.237784331T>A | CA345413760 | RYR2 | c.*3711T>A (n.*3711T>A) c.12607T>A (p.Ser4203Thr) c.12640T>A (p.Ser4214Thr) c.4796T>A c.12619T>A (p.Ser4207Thr) c.2672T>A c.12571T>A (p.Ser4191Thr) n.3814T>A c.12673T>A (p.Ser4225Thr) c.12670T>A (p.Ser4224Thr) c.12649T>A (p.Ser4217Thr) c.12643T>A (p.Ser4215Thr) c.12637T>A (p.Ser4213Thr) c.12613T>A (p.Ser4205Thr) c.12436T>A (p.Ser4146Thr) c.12580T>A (p.Ser4194Thr) c.12652T>A (p.Ser4218Thr) | |
| 1 | g.237784331T>C | CA345413761 | RYR2 | c.*3711T>C (n.*3711T>C) c.12607T>C (p.Ser4203Pro) c.12640T>C (p.Ser4214Pro) c.4796T>C c.12619T>C (p.Ser4207Pro) c.2672T>C c.12571T>C (p.Ser4191Pro) n.3814T>C c.12673T>C (p.Ser4225Pro) c.12670T>C (p.Ser4224Pro) c.12649T>C (p.Ser4217Pro) c.12643T>C (p.Ser4215Pro) c.12637T>C (p.Ser4213Pro) c.12613T>C (p.Ser4205Pro) c.12436T>C (p.Ser4146Pro) c.12580T>C (p.Ser4194Pro) c.12652T>C (p.Ser4218Pro) | |
| 1 | g.237784331T>G | CA345413762 | RYR2 | c.*3711T>G (n.*3711T>G) c.12607T>G (p.Ser4203Ala) c.12640T>G (p.Ser4214Ala) c.4796T>G c.12619T>G (p.Ser4207Ala) c.2672T>G c.12571T>G (p.Ser4191Ala) n.3814T>G c.12673T>G (p.Ser4225Ala) c.12670T>G (p.Ser4224Ala) c.12649T>G (p.Ser4217Ala) c.12643T>G (p.Ser4215Ala) c.12637T>G (p.Ser4213Ala) c.12613T>G (p.Ser4205Ala) c.12436T>G (p.Ser4146Ala) c.12580T>G (p.Ser4194Ala) c.12652T>G (p.Ser4218Ala) | |
| 1 | g.237784332C>A | CA345413763 | RYR2 | c.*3712C>A (n.*3712C>A) c.12608C>A (p.Ser4203Ter) c.12641C>A (p.Ser4214Ter) c.4797C>A c.12620C>A (p.Ser4207Ter) c.2673C>A c.12572C>A (p.Ser4191Ter) n.3815C>A c.12674C>A (p.Ser4225Ter) c.12671C>A (p.Ser4224Ter) c.12650C>A (p.Ser4217Ter) c.12644C>A (p.Ser4215Ter) c.12638C>A (p.Ser4213Ter) c.12614C>A (p.Ser4205Ter) c.12437C>A (p.Ser4146Ter) c.12581C>A (p.Ser4194Ter) c.12653C>A (p.Ser4218Ter) | ClinVar dbSNP |
| 1 | g.237784332C>G | CA345413764 | RYR2 | c.*3712C>G (n.*3712C>G) c.12608C>G (p.Ser4203Trp) c.12641C>G (p.Ser4214Trp) c.4797C>G c.12620C>G (p.Ser4207Trp) c.2673C>G c.12572C>G (p.Ser4191Trp) n.3815C>G c.12674C>G (p.Ser4225Trp) c.12671C>G (p.Ser4224Trp) c.12650C>G (p.Ser4217Trp) c.12644C>G (p.Ser4215Trp) c.12638C>G (p.Ser4213Trp) c.12614C>G (p.Ser4205Trp) c.12437C>G (p.Ser4146Trp) c.12581C>G (p.Ser4194Trp) c.12653C>G (p.Ser4218Trp) | |
| 1 | g.237784332C>T | CA345413765 | RYR2 | c.*3712C>T (n.*3712C>T) c.12608C>T (p.Ser4203Leu) c.12641C>T (p.Ser4214Leu) c.4797C>T c.12620C>T (p.Ser4207Leu) c.2673C>T c.12572C>T (p.Ser4191Leu) n.3815C>T c.12674C>T (p.Ser4225Leu) c.12671C>T (p.Ser4224Leu) c.12650C>T (p.Ser4217Leu) c.12644C>T (p.Ser4215Leu) c.12638C>T (p.Ser4213Leu) c.12614C>T (p.Ser4205Leu) c.12437C>T (p.Ser4146Leu) c.12581C>T (p.Ser4194Leu) c.12653C>T (p.Ser4218Leu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.237784333G>A | CA066530 | RYR2 | c.*3713G>A (n.*3713G>A) c.12609G>A (p.Ser4203=) c.12642G>A (p.Ser4214=) c.4798G>A c.12621G>A (p.Ser4207=) c.2674G>A c.12573G>A (p.Ser4191=) n.3816G>A c.12675G>A (p.Ser4225=) c.12672G>A (p.Ser4224=) c.12651G>A (p.Ser4217=) c.12645G>A (p.Ser4215=) c.12639G>A (p.Ser4213=) c.12615G>A (p.Ser4205=) c.12438G>A (p.Ser4146=) c.12582G>A (p.Ser4194=) c.12654G>A (p.Ser4218=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784333G>C | CA424032071 | RYR2 | c.*3713G>C (n.*3713G>C) c.12609G>C (p.Ser4203=) c.12642G>C (p.Ser4214=) c.4798G>C c.12621G>C (p.Ser4207=) c.2674G>C c.12573G>C (p.Ser4191=) n.3816G>C c.12675G>C (p.Ser4225=) c.12672G>C (p.Ser4224=) c.12651G>C (p.Ser4217=) c.12645G>C (p.Ser4215=) c.12639G>C (p.Ser4213=) c.12615G>C (p.Ser4205=) c.12438G>C (p.Ser4146=) c.12582G>C (p.Ser4194=) c.12654G>C (p.Ser4218=) | |
| 1 | g.237784333G= | CA2487482476 | RYR2 | c.*3713G= (n.*3713G=) c.12609G= (p.Ser4203=) c.12642G= (p.Ser4214=) c.4798G= c.12621G= (p.Ser4207=) c.2674G= c.12573G= (p.Ser4191=) n.3816G= c.12675G= (p.Ser4225=) c.12672G= (p.Ser4224=) c.12651G= (p.Ser4217=) c.12645G= (p.Ser4215=) c.12639G= (p.Ser4213=) c.12615G= (p.Ser4205=) c.12438G= (p.Ser4146=) c.12582G= (p.Ser4194=) c.12654G= (p.Ser4218=) | |
| 1 | g.237784333G>T | CA424032074 | RYR2 | c.*3713G>T (n.*3713G>T) c.12609G>T (p.Ser4203=) c.12642G>T (p.Ser4214=) c.4798G>T c.12621G>T (p.Ser4207=) c.2674G>T c.12573G>T (p.Ser4191=) n.3816G>T c.12675G>T (p.Ser4225=) c.12672G>T (p.Ser4224=) c.12651G>T (p.Ser4217=) c.12645G>T (p.Ser4215=) c.12639G>T (p.Ser4213=) c.12615G>T (p.Ser4205=) c.12438G>T (p.Ser4146=) c.12582G>T (p.Ser4194=) c.12654G>T (p.Ser4218=) | |
| 1 | g.237784334G>A | CA345413766 | RYR2 | c.*3714G>A (n.*3714G>A) c.12610G>A (p.Glu4204Lys) c.12643G>A (p.Glu4215Lys) c.4799G>A c.12622G>A (p.Glu4208Lys) c.2675G>A c.12574G>A (p.Glu4192Lys) n.3817G>A c.12676G>A (p.Glu4226Lys) c.12673G>A (p.Glu4225Lys) c.12652G>A (p.Glu4218Lys) c.12646G>A (p.Glu4216Lys) c.12640G>A (p.Glu4214Lys) c.12616G>A (p.Glu4206Lys) c.12439G>A (p.Glu4147Lys) c.12583G>A (p.Glu4195Lys) c.12655G>A (p.Glu4219Lys) | COSMIC COSMIC |
| 1 | g.237784334G>C | CA345413767 | RYR2 | c.*3714G>C (n.*3714G>C) c.12610G>C (p.Glu4204Gln) c.12643G>C (p.Glu4215Gln) c.4799G>C c.12622G>C (p.Glu4208Gln) c.2675G>C c.12574G>C (p.Glu4192Gln) n.3817G>C c.12676G>C (p.Glu4226Gln) c.12673G>C (p.Glu4225Gln) c.12652G>C (p.Glu4218Gln) c.12646G>C (p.Glu4216Gln) c.12640G>C (p.Glu4214Gln) c.12616G>C (p.Glu4206Gln) c.12439G>C (p.Glu4147Gln) c.12583G>C (p.Glu4195Gln) c.12655G>C (p.Glu4219Gln) | |
| 1 | g.237784334G>T | CA345413768 | RYR2 | c.*3714G>T (n.*3714G>T) c.12610G>T (p.Glu4204Ter) c.12643G>T (p.Glu4215Ter) c.4799G>T c.12622G>T (p.Glu4208Ter) c.2675G>T c.12574G>T (p.Glu4192Ter) n.3817G>T c.12676G>T (p.Glu4226Ter) c.12673G>T (p.Glu4225Ter) c.12652G>T (p.Glu4218Ter) c.12646G>T (p.Glu4216Ter) c.12640G>T (p.Glu4214Ter) c.12616G>T (p.Glu4206Ter) c.12439G>T (p.Glu4147Ter) c.12583G>T (p.Glu4195Ter) c.12655G>T (p.Glu4219Ter) | COSMIC COSMIC |
| 1 | g.237784335A= | CA2487482477 | RYR2 | c.*3715A= (n.*3715A=) c.12611A= (p.Glu4204=) c.12644A= (p.Glu4215=) c.4800A= c.12623A= (p.Glu4208=) c.2676A= c.12575A= (p.Glu4192=) n.3818A= c.12677A= (p.Glu4226=) c.12674A= (p.Glu4225=) c.12653A= (p.Glu4218=) c.12647A= (p.Glu4216=) c.12641A= (p.Glu4214=) c.12617A= (p.Glu4206=) c.12440A= (p.Glu4147=) c.12584A= (p.Glu4195=) c.12656A= (p.Glu4219=) | |
| 1 | g.237784335A>C | CA345413770 | RYR2 | c.*3715A>C (n.*3715A>C) c.12611A>C (p.Glu4204Ala) c.12644A>C (p.Glu4215Ala) c.4800A>C c.12623A>C (p.Glu4208Ala) c.2676A>C c.12575A>C (p.Glu4192Ala) n.3818A>C c.12677A>C (p.Glu4226Ala) c.12674A>C (p.Glu4225Ala) c.12653A>C (p.Glu4218Ala) c.12647A>C (p.Glu4216Ala) c.12641A>C (p.Glu4214Ala) c.12617A>C (p.Glu4206Ala) c.12440A>C (p.Glu4147Ala) c.12584A>C (p.Glu4195Ala) c.12656A>C (p.Glu4219Ala) | |
| 1 | g.237784335A>G | CA345413771 | RYR2 | c.*3715A>G (n.*3715A>G) c.12611A>G (p.Glu4204Gly) c.12644A>G (p.Glu4215Gly) c.4800A>G c.12623A>G (p.Glu4208Gly) c.2676A>G c.12575A>G (p.Glu4192Gly) n.3818A>G c.12677A>G (p.Glu4226Gly) c.12674A>G (p.Glu4225Gly) c.12653A>G (p.Glu4218Gly) c.12647A>G (p.Glu4216Gly) c.12641A>G (p.Glu4214Gly) c.12617A>G (p.Glu4206Gly) c.12440A>G (p.Glu4147Gly) c.12584A>G (p.Glu4195Gly) c.12656A>G (p.Glu4219Gly) | ClinVar dbSNP |
| 1 | g.237784335A>T | CA345413769 | RYR2 | c.*3715A>T (n.*3715A>T) c.12611A>T (p.Glu4204Val) c.12644A>T (p.Glu4215Val) c.4800A>T c.12623A>T (p.Glu4208Val) c.2676A>T c.12575A>T (p.Glu4192Val) n.3818A>T c.12677A>T (p.Glu4226Val) c.12674A>T (p.Glu4225Val) c.12653A>T (p.Glu4218Val) c.12647A>T (p.Glu4216Val) c.12641A>T (p.Glu4214Val) c.12617A>T (p.Glu4206Val) c.12440A>T (p.Glu4147Val) c.12584A>T (p.Glu4195Val) c.12656A>T (p.Glu4219Val) | |
| 1 | g.237784336G>A | CA424032081 | RYR2 | c.*3716G>A (n.*3716G>A) c.12612G>A (p.Glu4204=) c.12645G>A (p.Glu4215=) c.4801G>A c.12624G>A (p.Glu4208=) c.2677G>A c.12576G>A (p.Glu4192=) n.3819G>A c.12678G>A (p.Glu4226=) c.12675G>A (p.Glu4225=) c.12654G>A (p.Glu4218=) c.12648G>A (p.Glu4216=) c.12642G>A (p.Glu4214=) c.12618G>A (p.Glu4206=) c.12441G>A (p.Glu4147=) c.12585G>A (p.Glu4195=) c.12657G>A (p.Glu4219=) | ClinVar dbSNP |
| 1 | g.237784336G>C | CA345413773 | RYR2 | c.*3716G>C (n.*3716G>C) c.12612G>C (p.Glu4204Asp) c.12645G>C (p.Glu4215Asp) c.4801G>C c.12624G>C (p.Glu4208Asp) c.2677G>C c.12576G>C (p.Glu4192Asp) n.3819G>C c.12678G>C (p.Glu4226Asp) c.12675G>C (p.Glu4225Asp) c.12654G>C (p.Glu4218Asp) c.12648G>C (p.Glu4216Asp) c.12642G>C (p.Glu4214Asp) c.12618G>C (p.Glu4206Asp) c.12441G>C (p.Glu4147Asp) c.12585G>C (p.Glu4195Asp) c.12657G>C (p.Glu4219Asp) | |
| 1 | g.237784336G= | CA2487482478 | RYR2 | c.*3716G= (n.*3716G=) c.12612G= (p.Glu4204=) c.12645G= (p.Glu4215=) c.4801G= c.12624G= (p.Glu4208=) c.2677G= c.12576G= (p.Glu4192=) n.3819G= c.12678G= (p.Glu4226=) c.12675G= (p.Glu4225=) c.12654G= (p.Glu4218=) c.12648G= (p.Glu4216=) c.12642G= (p.Glu4214=) c.12618G= (p.Glu4206=) c.12441G= (p.Glu4147=) c.12585G= (p.Glu4195=) c.12657G= (p.Glu4219=) | |
| 1 | g.237784336G>T | CA345413772 | RYR2 | c.*3716G>T (n.*3716G>T) c.12612G>T (p.Glu4204Asp) c.12645G>T (p.Glu4215Asp) c.4801G>T c.12624G>T (p.Glu4208Asp) c.2677G>T c.12576G>T (p.Glu4192Asp) n.3819G>T c.12678G>T (p.Glu4226Asp) c.12675G>T (p.Glu4225Asp) c.12654G>T (p.Glu4218Asp) c.12648G>T (p.Glu4216Asp) c.12642G>T (p.Glu4214Asp) c.12618G>T (p.Glu4206Asp) c.12441G>T (p.Glu4147Asp) c.12585G>T (p.Glu4195Asp) c.12657G>T (p.Glu4219Asp) | |
| 1 | g.237784337T>A | CA345413776 | RYR2 | c.*3717T>A (n.*3717T>A) c.12613T>A (p.Ser4205Thr) c.12646T>A (p.Ser4216Thr) c.4802T>A c.12625T>A (p.Ser4209Thr) c.2678T>A c.12577T>A (p.Ser4193Thr) n.3820T>A c.12679T>A (p.Ser4227Thr) c.12676T>A (p.Ser4226Thr) c.12655T>A (p.Ser4219Thr) c.12649T>A (p.Ser4217Thr) c.12643T>A (p.Ser4215Thr) c.12619T>A (p.Ser4207Thr) c.12442T>A (p.Ser4148Thr) c.12586T>A (p.Ser4196Thr) c.12658T>A (p.Ser4220Thr) | |
| 1 | g.237784337T>C | CA345413774 | RYR2 | c.*3717T>C (n.*3717T>C) c.12613T>C (p.Ser4205Pro) c.12646T>C (p.Ser4216Pro) c.4802T>C c.12625T>C (p.Ser4209Pro) c.2678T>C c.12577T>C (p.Ser4193Pro) n.3820T>C c.12679T>C (p.Ser4227Pro) c.12676T>C (p.Ser4226Pro) c.12655T>C (p.Ser4219Pro) c.12649T>C (p.Ser4217Pro) c.12643T>C (p.Ser4215Pro) c.12619T>C (p.Ser4207Pro) c.12442T>C (p.Ser4148Pro) c.12586T>C (p.Ser4196Pro) c.12658T>C (p.Ser4220Pro) | |
| 1 | g.237784337T>G | CA345413775 | RYR2 | c.*3717T>G (n.*3717T>G) c.12613T>G (p.Ser4205Ala) c.12646T>G (p.Ser4216Ala) c.4802T>G c.12625T>G (p.Ser4209Ala) c.2678T>G c.12577T>G (p.Ser4193Ala) n.3820T>G c.12679T>G (p.Ser4227Ala) c.12676T>G (p.Ser4226Ala) c.12655T>G (p.Ser4219Ala) c.12649T>G (p.Ser4217Ala) c.12643T>G (p.Ser4215Ala) c.12619T>G (p.Ser4207Ala) c.12442T>G (p.Ser4148Ala) c.12586T>G (p.Ser4196Ala) c.12658T>G (p.Ser4220Ala) | gnomAD v4 |
| 1 | g.237784338C>A | CA345413777 | RYR2 | c.*3718C>A (n.*3718C>A) c.12614C>A (p.Ser4205Ter) c.12647C>A (p.Ser4216Ter) c.4803C>A c.12626C>A (p.Ser4209Ter) c.2679C>A c.12578C>A (p.Ser4193Ter) n.3821C>A c.12680C>A (p.Ser4227Ter) c.12677C>A (p.Ser4226Ter) c.12656C>A (p.Ser4219Ter) c.12650C>A (p.Ser4217Ter) c.12644C>A (p.Ser4215Ter) c.12620C>A (p.Ser4207Ter) c.12443C>A (p.Ser4148Ter) c.12587C>A (p.Ser4196Ter) c.12659C>A (p.Ser4220Ter) | |
| 1 | g.237784338C>G | CA345413778 | RYR2 | c.*3718C>G (n.*3718C>G) c.12614C>G (p.Ser4205Trp) c.12647C>G (p.Ser4216Trp) c.4803C>G c.12626C>G (p.Ser4209Trp) c.2679C>G c.12578C>G (p.Ser4193Trp) n.3821C>G c.12680C>G (p.Ser4227Trp) c.12677C>G (p.Ser4226Trp) c.12656C>G (p.Ser4219Trp) c.12650C>G (p.Ser4217Trp) c.12644C>G (p.Ser4215Trp) c.12620C>G (p.Ser4207Trp) c.12443C>G (p.Ser4148Trp) c.12587C>G (p.Ser4196Trp) c.12659C>G (p.Ser4220Trp) | |
| 1 | g.237784338C>T | CA345413779 | RYR2 | c.*3718C>T (n.*3718C>T) c.12614C>T (p.Ser4205Leu) c.12647C>T (p.Ser4216Leu) c.4803C>T c.12626C>T (p.Ser4209Leu) c.2679C>T c.12578C>T (p.Ser4193Leu) n.3821C>T c.12680C>T (p.Ser4227Leu) c.12677C>T (p.Ser4226Leu) c.12656C>T (p.Ser4219Leu) c.12650C>T (p.Ser4217Leu) c.12644C>T (p.Ser4215Leu) c.12620C>T (p.Ser4207Leu) c.12443C>T (p.Ser4148Leu) c.12587C>T (p.Ser4196Leu) c.12659C>T (p.Ser4220Leu) | ClinVar gnomAD v4 |
| 1 | g.237784339G>A | CA085204 | RYR2 | c.*3719G>A (n.*3719G>A) c.12615G>A (p.Ser4205=) c.12648G>A (p.Ser4216=) c.4804G>A c.12627G>A (p.Ser4209=) c.2680G>A c.12579G>A (p.Ser4193=) n.3822G>A c.12681G>A (p.Ser4227=) c.12678G>A (p.Ser4226=) c.12657G>A (p.Ser4219=) c.12651G>A (p.Ser4217=) c.12645G>A (p.Ser4215=) c.12621G>A (p.Ser4207=) c.12444G>A (p.Ser4148=) c.12588G>A (p.Ser4196=) c.12660G>A (p.Ser4220=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784339G>C | CA085206 | RYR2 | c.*3719G>C (n.*3719G>C) c.12615G>C (p.Ser4205=) c.12648G>C (p.Ser4216=) c.4804G>C c.12627G>C (p.Ser4209=) c.2680G>C c.12579G>C (p.Ser4193=) n.3822G>C c.12681G>C (p.Ser4227=) c.12678G>C (p.Ser4226=) c.12657G>C (p.Ser4219=) c.12651G>C (p.Ser4217=) c.12645G>C (p.Ser4215=) c.12621G>C (p.Ser4207=) c.12444G>C (p.Ser4148=) c.12588G>C (p.Ser4196=) c.12660G>C (p.Ser4220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237784339G= | CA1139992146 | RYR2 | c.*3719G= (n.*3719G=) c.12615G= (p.Ser4205=) c.12648G= (p.Ser4216=) c.4804G= c.12627G= (p.Ser4209=) c.2680G= c.12579G= (p.Ser4193=) n.3822G= c.12681G= (p.Ser4227=) c.12678G= (p.Ser4226=) c.12657G= (p.Ser4219=) c.12651G= (p.Ser4217=) c.12645G= (p.Ser4215=) c.12621G= (p.Ser4207=) c.12444G= (p.Ser4148=) c.12588G= (p.Ser4196=) c.12660G= (p.Ser4220=) | |
| 1 | g.237784339G>T | CA424032089 | RYR2 | c.*3719G>T (n.*3719G>T) c.12615G>T (p.Ser4205=) c.12648G>T (p.Ser4216=) c.4804G>T c.12627G>T (p.Ser4209=) c.2680G>T c.12579G>T (p.Ser4193=) n.3822G>T c.12681G>T (p.Ser4227=) c.12678G>T (p.Ser4226=) c.12657G>T (p.Ser4219=) c.12651G>T (p.Ser4217=) c.12645G>T (p.Ser4215=) c.12621G>T (p.Ser4207=) c.12444G>T (p.Ser4148=) c.12588G>T (p.Ser4196=) c.12660G>T (p.Ser4220=) | |
| 1 | g.237784340G>A | CA345413780 | RYR2 | c.*3720G>A (n.*3720G>A) c.12616G>A (p.Asp4206Asn) c.12649G>A (p.Asp4217Asn) c.4805G>A c.12628G>A (p.Asp4210Asn) c.2681G>A c.12580G>A (p.Asp4194Asn) n.3823G>A c.12682G>A (p.Asp4228Asn) c.12679G>A (p.Asp4227Asn) c.12658G>A (p.Asp4220Asn) c.12652G>A (p.Asp4218Asn) c.12646G>A (p.Asp4216Asn) c.12622G>A (p.Asp4208Asn) c.12445G>A (p.Asp4149Asn) c.12589G>A (p.Asp4197Asn) c.12661G>A (p.Asp4221Asn) | |
| 1 | g.237784340G>C | CA345413781 | RYR2 | c.*3720G>C (n.*3720G>C) c.12616G>C (p.Asp4206His) c.12649G>C (p.Asp4217His) c.4805G>C c.12628G>C (p.Asp4210His) c.2681G>C c.12580G>C (p.Asp4194His) n.3823G>C c.12682G>C (p.Asp4228His) c.12679G>C (p.Asp4227His) c.12658G>C (p.Asp4220His) c.12652G>C (p.Asp4218His) c.12646G>C (p.Asp4216His) c.12622G>C (p.Asp4208His) c.12445G>C (p.Asp4149His) c.12589G>C (p.Asp4197His) c.12661G>C (p.Asp4221His) | |
| 1 | g.237784340G>T | CA345413782 | RYR2 | c.*3720G>T (n.*3720G>T) c.12616G>T (p.Asp4206Tyr) c.12649G>T (p.Asp4217Tyr) c.4805G>T c.12628G>T (p.Asp4210Tyr) c.2681G>T c.12580G>T (p.Asp4194Tyr) n.3823G>T c.12682G>T (p.Asp4228Tyr) c.12679G>T (p.Asp4227Tyr) c.12658G>T (p.Asp4220Tyr) c.12652G>T (p.Asp4218Tyr) c.12646G>T (p.Asp4216Tyr) c.12622G>T (p.Asp4208Tyr) c.12445G>T (p.Asp4149Tyr) c.12589G>T (p.Asp4197Tyr) c.12661G>T (p.Asp4221Tyr) | |
| 1 | g.237784341A>C | CA345413783 | RYR2 | c.*3721A>C (n.*3721A>C) c.12617A>C (p.Asp4206Ala) c.12650A>C (p.Asp4217Ala) c.4806A>C c.12629A>C (p.Asp4210Ala) c.2682A>C c.12581A>C (p.Asp4194Ala) n.3824A>C c.12683A>C (p.Asp4228Ala) c.12680A>C (p.Asp4227Ala) c.12659A>C (p.Asp4220Ala) c.12653A>C (p.Asp4218Ala) c.12647A>C (p.Asp4216Ala) c.12623A>C (p.Asp4208Ala) c.12446A>C (p.Asp4149Ala) c.12590A>C (p.Asp4197Ala) c.12662A>C (p.Asp4221Ala) | |
| 1 | g.237784341A>G | CA345413784 | RYR2 | c.*3721A>G (n.*3721A>G) c.12617A>G (p.Asp4206Gly) c.12650A>G (p.Asp4217Gly) c.4806A>G c.12629A>G (p.Asp4210Gly) c.2682A>G c.12581A>G (p.Asp4194Gly) n.3824A>G c.12683A>G (p.Asp4228Gly) c.12680A>G (p.Asp4227Gly) c.12659A>G (p.Asp4220Gly) c.12653A>G (p.Asp4218Gly) c.12647A>G (p.Asp4216Gly) c.12623A>G (p.Asp4208Gly) c.12446A>G (p.Asp4149Gly) c.12590A>G (p.Asp4197Gly) c.12662A>G (p.Asp4221Gly) | |
| 1 | g.237784341A>T | CA345413785 | RYR2 | c.*3721A>T (n.*3721A>T) c.12617A>T (p.Asp4206Val) c.12650A>T (p.Asp4217Val) c.4806A>T c.12629A>T (p.Asp4210Val) c.2682A>T c.12581A>T (p.Asp4194Val) n.3824A>T c.12683A>T (p.Asp4228Val) c.12680A>T (p.Asp4227Val) c.12659A>T (p.Asp4220Val) c.12653A>T (p.Asp4218Val) c.12647A>T (p.Asp4216Val) c.12623A>T (p.Asp4208Val) c.12446A>T (p.Asp4149Val) c.12590A>T (p.Asp4197Val) c.12662A>T (p.Asp4221Val) | |
| 1 | g.237784342C>A | CA345413787 | RYR2 | c.*3722C>A (n.*3722C>A) c.12618C>A (p.Asp4206Glu) c.12651C>A (p.Asp4217Glu) c.4807C>A c.12630C>A (p.Asp4210Glu) c.2683C>A c.12582C>A (p.Asp4194Glu) n.3825C>A c.12684C>A (p.Asp4228Glu) c.12681C>A (p.Asp4227Glu) c.12660C>A (p.Asp4220Glu) c.12654C>A (p.Asp4218Glu) c.12648C>A (p.Asp4216Glu) c.12624C>A (p.Asp4208Glu) c.12447C>A (p.Asp4149Glu) c.12591C>A (p.Asp4197Glu) c.12663C>A (p.Asp4221Glu) | COSMIC COSMIC |
| 1 | g.237784342C>G | CA345413786 | RYR2 | c.*3722C>G (n.*3722C>G) c.12618C>G (p.Asp4206Glu) c.12651C>G (p.Asp4217Glu) c.4807C>G c.12630C>G (p.Asp4210Glu) c.2683C>G c.12582C>G (p.Asp4194Glu) n.3825C>G c.12684C>G (p.Asp4228Glu) c.12681C>G (p.Asp4227Glu) c.12660C>G (p.Asp4220Glu) c.12654C>G (p.Asp4218Glu) c.12648C>G (p.Asp4216Glu) c.12624C>G (p.Asp4208Glu) c.12447C>G (p.Asp4149Glu) c.12591C>G (p.Asp4197Glu) c.12663C>G (p.Asp4221Glu) | |
| 1 | g.237784342C>T | CA424032093 | RYR2 | c.*3722C>T (n.*3722C>T) c.12618C>T (p.Asp4206=) c.12651C>T (p.Asp4217=) c.4807C>T c.12630C>T (p.Asp4210=) c.2683C>T c.12582C>T (p.Asp4194=) n.3825C>T c.12684C>T (p.Asp4228=) c.12681C>T (p.Asp4227=) c.12660C>T (p.Asp4220=) c.12654C>T (p.Asp4218=) c.12648C>T (p.Asp4216=) c.12624C>T (p.Asp4208=) c.12447C>T (p.Asp4149=) c.12591C>T (p.Asp4197=) c.12663C>T (p.Asp4221=) | |
| 1 | g.237784343T>A | CA345413788 | RYR2 | c.*3723T>A (n.*3723T>A) c.12619T>A (p.Leu4207Met) c.12652T>A (p.Leu4218Met) c.4808T>A c.12631T>A (p.Leu4211Met) c.2684T>A c.12583T>A (p.Leu4195Met) n.3826T>A c.12685T>A (p.Leu4229Met) c.12682T>A (p.Leu4228Met) c.12661T>A (p.Leu4221Met) c.12655T>A (p.Leu4219Met) c.12649T>A (p.Leu4217Met) c.12625T>A (p.Leu4209Met) c.12448T>A (p.Leu4150Met) c.12592T>A (p.Leu4198Met) c.12664T>A (p.Leu4222Met) | |
| 1 | g.237784343T>C | CA424032096 | RYR2 | c.*3723T>C (n.*3723T>C) c.12619T>C (p.Leu4207=) c.12652T>C (p.Leu4218=) c.4808T>C c.12631T>C (p.Leu4211=) c.2684T>C c.12583T>C (p.Leu4195=) n.3826T>C c.12685T>C (p.Leu4229=) c.12682T>C (p.Leu4228=) c.12661T>C (p.Leu4221=) c.12655T>C (p.Leu4219=) c.12649T>C (p.Leu4217=) c.12625T>C (p.Leu4209=) c.12448T>C (p.Leu4150=) c.12592T>C (p.Leu4198=) c.12664T>C (p.Leu4222=) | |
| 1 | g.237784343T>G | CA345413789 | RYR2 | c.*3723T>G (n.*3723T>G) c.12619T>G (p.Leu4207Val) c.12652T>G (p.Leu4218Val) c.4808T>G c.12631T>G (p.Leu4211Val) c.2684T>G c.12583T>G (p.Leu4195Val) n.3826T>G c.12685T>G (p.Leu4229Val) c.12682T>G (p.Leu4228Val) c.12661T>G (p.Leu4221Val) c.12655T>G (p.Leu4219Val) c.12649T>G (p.Leu4217Val) c.12625T>G (p.Leu4209Val) c.12448T>G (p.Leu4150Val) c.12592T>G (p.Leu4198Val) c.12664T>G (p.Leu4222Val) | |
| 1 | g.237784344T>A | CA345413790 | RYR2 | c.*3724T>A (n.*3724T>A) c.12620T>A (p.Leu4207Ter) c.12653T>A (p.Leu4218Ter) c.4809T>A c.12632T>A (p.Leu4211Ter) c.2685T>A c.12584T>A (p.Leu4195Ter) n.3827T>A c.12686T>A (p.Leu4229Ter) c.12683T>A (p.Leu4228Ter) c.12662T>A (p.Leu4221Ter) c.12656T>A (p.Leu4219Ter) c.12650T>A (p.Leu4217Ter) c.12626T>A (p.Leu4209Ter) c.12449T>A (p.Leu4150Ter) c.12593T>A (p.Leu4198Ter) c.12665T>A (p.Leu4222Ter) | |
| 1 | g.237784344T>C | CA345413791 | RYR2 | c.*3724T>C (n.*3724T>C) c.12620T>C (p.Leu4207Ser) c.12653T>C (p.Leu4218Ser) c.4809T>C c.12632T>C (p.Leu4211Ser) c.2685T>C c.12584T>C (p.Leu4195Ser) n.3827T>C c.12686T>C (p.Leu4229Ser) c.12683T>C (p.Leu4228Ser) c.12662T>C (p.Leu4221Ser) c.12656T>C (p.Leu4219Ser) c.12650T>C (p.Leu4217Ser) c.12626T>C (p.Leu4209Ser) c.12449T>C (p.Leu4150Ser) c.12593T>C (p.Leu4198Ser) c.12665T>C (p.Leu4222Ser) | |
| 1 | g.237784344T>G | CA345413792 | RYR2 | c.*3724T>G (n.*3724T>G) c.12620T>G (p.Leu4207Trp) c.12653T>G (p.Leu4218Trp) c.4809T>G c.12632T>G (p.Leu4211Trp) c.2685T>G c.12584T>G (p.Leu4195Trp) n.3827T>G c.12686T>G (p.Leu4229Trp) c.12683T>G (p.Leu4228Trp) c.12662T>G (p.Leu4221Trp) c.12656T>G (p.Leu4219Trp) c.12650T>G (p.Leu4217Trp) c.12626T>G (p.Leu4209Trp) c.12449T>G (p.Leu4150Trp) c.12593T>G (p.Leu4198Trp) c.12665T>G (p.Leu4222Trp) | |
| 1 | g.237784345G>A | CA424032097 | RYR2 | c.*3725G>A (n.*3725G>A) c.12621G>A (p.Leu4207=) c.12654G>A (p.Leu4218=) c.4810G>A c.12633G>A (p.Leu4211=) c.2686G>A c.12585G>A (p.Leu4195=) n.3828G>A c.12687G>A (p.Leu4229=) c.12684G>A (p.Leu4228=) c.12663G>A (p.Leu4221=) c.12657G>A (p.Leu4219=) c.12651G>A (p.Leu4217=) c.12627G>A (p.Leu4209=) c.12450G>A (p.Leu4150=) c.12594G>A (p.Leu4198=) c.12666G>A (p.Leu4222=) | dbSNP |
| 1 | g.237784345G>C | CA345413793 | RYR2 | c.*3725G>C (n.*3725G>C) c.12621G>C (p.Leu4207Phe) c.12654G>C (p.Leu4218Phe) c.4810G>C c.12633G>C (p.Leu4211Phe) c.2686G>C c.12585G>C (p.Leu4195Phe) n.3828G>C c.12687G>C (p.Leu4229Phe) c.12684G>C (p.Leu4228Phe) c.12663G>C (p.Leu4221Phe) c.12657G>C (p.Leu4219Phe) c.12651G>C (p.Leu4217Phe) c.12627G>C (p.Leu4209Phe) c.12450G>C (p.Leu4150Phe) c.12594G>C (p.Leu4198Phe) c.12666G>C (p.Leu4222Phe) | gnomAD v4 |
| 1 | g.237784345G= | CA2487482479 | RYR2 | c.*3725G= (n.*3725G=) c.12621G= (p.Leu4207=) c.12654G= (p.Leu4218=) c.4810G= c.12633G= (p.Leu4211=) c.2686G= c.12585G= (p.Leu4195=) n.3828G= c.12687G= (p.Leu4229=) c.12684G= (p.Leu4228=) c.12663G= (p.Leu4221=) c.12657G= (p.Leu4219=) c.12651G= (p.Leu4217=) c.12627G= (p.Leu4209=) c.12450G= (p.Leu4150=) c.12594G= (p.Leu4198=) c.12666G= (p.Leu4222=) | |
| 1 | g.237784345G>T | CA345413794 | RYR2 | c.*3725G>T (n.*3725G>T) c.12621G>T (p.Leu4207Phe) c.12654G>T (p.Leu4218Phe) c.4810G>T c.12633G>T (p.Leu4211Phe) c.2686G>T c.12585G>T (p.Leu4195Phe) n.3828G>T c.12687G>T (p.Leu4229Phe) c.12684G>T (p.Leu4228Phe) c.12663G>T (p.Leu4221Phe) c.12657G>T (p.Leu4219Phe) c.12651G>T (p.Leu4217Phe) c.12627G>T (p.Leu4209Phe) c.12450G>T (p.Leu4150Phe) c.12594G>T (p.Leu4198Phe) c.12666G>T (p.Leu4222Phe) | |
| 1 | g.237784346A>C | CA345413795 | RYR2 | c.*3726A>C (n.*3726A>C) c.12622A>C (p.Asn4208His) c.12655A>C (p.Asn4219His) c.4811A>C c.12634A>C (p.Asn4212His) c.2687A>C c.12586A>C (p.Asn4196His) n.3829A>C c.12688A>C (p.Asn4230His) c.12685A>C (p.Asn4229His) c.12664A>C (p.Asn4222His) c.12658A>C (p.Asn4220His) c.12652A>C (p.Asn4218His) c.12628A>C (p.Asn4210His) c.12451A>C (p.Asn4151His) c.12595A>C (p.Asn4199His) c.12667A>C (p.Asn4223His) | |
| 1 | g.237784346A>G | CA345413796 | RYR2 | c.*3726A>G (n.*3726A>G) c.12622A>G (p.Asn4208Asp) c.12655A>G (p.Asn4219Asp) c.4811A>G c.12634A>G (p.Asn4212Asp) c.2687A>G c.12586A>G (p.Asn4196Asp) n.3829A>G c.12688A>G (p.Asn4230Asp) c.12685A>G (p.Asn4229Asp) c.12664A>G (p.Asn4222Asp) c.12658A>G (p.Asn4220Asp) c.12652A>G (p.Asn4218Asp) c.12628A>G (p.Asn4210Asp) c.12451A>G (p.Asn4151Asp) c.12595A>G (p.Asn4199Asp) c.12667A>G (p.Asn4223Asp) | |
| 1 | g.237784346A>T | CA345413797 | RYR2 | c.*3726A>T (n.*3726A>T) c.12622A>T (p.Asn4208Tyr) c.12655A>T (p.Asn4219Tyr) c.4811A>T c.12634A>T (p.Asn4212Tyr) c.2687A>T c.12586A>T (p.Asn4196Tyr) n.3829A>T c.12688A>T (p.Asn4230Tyr) c.12685A>T (p.Asn4229Tyr) c.12664A>T (p.Asn4222Tyr) c.12658A>T (p.Asn4220Tyr) c.12652A>T (p.Asn4218Tyr) c.12628A>T (p.Asn4210Tyr) c.12451A>T (p.Asn4151Tyr) c.12595A>T (p.Asn4199Tyr) c.12667A>T (p.Asn4223Tyr) | |
| 1 | g.237784347A>C | CA345413798 | RYR2 | c.*3727A>C (n.*3727A>C) c.12623A>C (p.Asn4208Thr) c.12656A>C (p.Asn4219Thr) c.4812A>C c.12635A>C (p.Asn4212Thr) c.2688A>C c.12587A>C (p.Asn4196Thr) n.3830A>C c.12689A>C (p.Asn4230Thr) c.12686A>C (p.Asn4229Thr) c.12665A>C (p.Asn4222Thr) c.12659A>C (p.Asn4220Thr) c.12653A>C (p.Asn4218Thr) c.12629A>C (p.Asn4210Thr) c.12452A>C (p.Asn4151Thr) c.12596A>C (p.Asn4199Thr) c.12668A>C (p.Asn4223Thr) | |
| 1 | g.237784347A>G | CA345413799 | RYR2 | c.*3727A>G (n.*3727A>G) c.12623A>G (p.Asn4208Ser) c.12656A>G (p.Asn4219Ser) c.4812A>G c.12635A>G (p.Asn4212Ser) c.2688A>G c.12587A>G (p.Asn4196Ser) n.3830A>G c.12689A>G (p.Asn4230Ser) c.12686A>G (p.Asn4229Ser) c.12665A>G (p.Asn4222Ser) c.12659A>G (p.Asn4220Ser) c.12653A>G (p.Asn4218Ser) c.12629A>G (p.Asn4210Ser) c.12452A>G (p.Asn4151Ser) c.12596A>G (p.Asn4199Ser) c.12668A>G (p.Asn4223Ser) | |
| 1 | g.237784347A>T | CA345413800 | RYR2 | c.*3727A>T (n.*3727A>T) c.12623A>T (p.Asn4208Ile) c.12656A>T (p.Asn4219Ile) c.4812A>T c.12635A>T (p.Asn4212Ile) c.2688A>T c.12587A>T (p.Asn4196Ile) n.3830A>T c.12689A>T (p.Asn4230Ile) c.12686A>T (p.Asn4229Ile) c.12665A>T (p.Asn4222Ile) c.12659A>T (p.Asn4220Ile) c.12653A>T (p.Asn4218Ile) c.12629A>T (p.Asn4210Ile) c.12452A>T (p.Asn4151Ile) c.12596A>T (p.Asn4199Ile) c.12668A>T (p.Asn4223Ile) | |
| 1 | g.237784348C>A | CA345413801 | RYR2 | c.*3728C>A (n.*3728C>A) c.12624C>A (p.Asn4208Lys) c.12657C>A (p.Asn4219Lys) c.4813C>A c.12636C>A (p.Asn4212Lys) c.2689C>A c.12588C>A (p.Asn4196Lys) n.3831C>A c.12690C>A (p.Asn4230Lys) c.12687C>A (p.Asn4229Lys) c.12666C>A (p.Asn4222Lys) c.12660C>A (p.Asn4220Lys) c.12654C>A (p.Asn4218Lys) c.12630C>A (p.Asn4210Lys) c.12453C>A (p.Asn4151Lys) c.12597C>A (p.Asn4199Lys) c.12669C>A (p.Asn4223Lys) | ClinVar dbSNP |
| 1 | g.237784348C= | CA2487482480 | RYR2 | c.*3728C= (n.*3728C=) c.12624C= (p.Asn4208=) c.12657C= (p.Asn4219=) c.4813C= c.12636C= (p.Asn4212=) c.2689C= c.12588C= (p.Asn4196=) n.3831C= c.12690C= (p.Asn4230=) c.12687C= (p.Asn4229=) c.12666C= (p.Asn4222=) c.12660C= (p.Asn4220=) c.12654C= (p.Asn4218=) c.12630C= (p.Asn4210=) c.12453C= (p.Asn4151=) c.12597C= (p.Asn4199=) c.12669C= (p.Asn4223=) | |
| 1 | g.237784348C>G | CA39827800 | RYR2 | c.*3728C>G (n.*3728C>G) c.12624C>G (p.Asn4208Lys) c.12657C>G (p.Asn4219Lys) c.4813C>G c.12636C>G (p.Asn4212Lys) c.2689C>G c.12588C>G (p.Asn4196Lys) n.3831C>G c.12690C>G (p.Asn4230Lys) c.12687C>G (p.Asn4229Lys) c.12666C>G (p.Asn4222Lys) c.12660C>G (p.Asn4220Lys) c.12654C>G (p.Asn4218Lys) c.12630C>G (p.Asn4210Lys) c.12453C>G (p.Asn4151Lys) c.12597C>G (p.Asn4199Lys) c.12669C>G (p.Asn4223Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237784348C>T | CA424032101 | RYR2 | c.*3728C>T (n.*3728C>T) c.12624C>T (p.Asn4208=) c.12657C>T (p.Asn4219=) c.4813C>T c.12636C>T (p.Asn4212=) c.2689C>T c.12588C>T (p.Asn4196=) n.3831C>T c.12690C>T (p.Asn4230=) c.12687C>T (p.Asn4229=) c.12666C>T (p.Asn4222=) c.12660C>T (p.Asn4220=) c.12654C>T (p.Asn4218=) c.12630C>T (p.Asn4210=) c.12453C>T (p.Asn4151=) c.12597C>T (p.Asn4199=) c.12669C>T (p.Asn4223=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237784349G>A | CA345413802 | RYR2 | c.*3729G>A (n.*3729G>A) c.12625G>A (p.Glu4209Lys) c.12658G>A (p.Glu4220Lys) c.4814G>A c.12637G>A (p.Glu4213Lys) c.2690G>A c.12589G>A (p.Glu4197Lys) n.3832G>A c.12691G>A (p.Glu4231Lys) c.12688G>A (p.Glu4230Lys) c.12667G>A (p.Glu4223Lys) c.12661G>A (p.Glu4221Lys) c.12655G>A (p.Glu4219Lys) c.12631G>A (p.Glu4211Lys) c.12454G>A (p.Glu4152Lys) c.12598G>A (p.Glu4200Lys) c.12670G>A (p.Glu4224Lys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237784349G>C | CA345413803 | RYR2 | c.*3729G>C (n.*3729G>C) c.12625G>C (p.Glu4209Gln) c.12658G>C (p.Glu4220Gln) c.4814G>C c.12637G>C (p.Glu4213Gln) c.2690G>C c.12589G>C (p.Glu4197Gln) n.3832G>C c.12691G>C (p.Glu4231Gln) c.12688G>C (p.Glu4230Gln) c.12667G>C (p.Glu4223Gln) c.12661G>C (p.Glu4221Gln) c.12655G>C (p.Glu4219Gln) c.12631G>C (p.Glu4211Gln) c.12454G>C (p.Glu4152Gln) c.12598G>C (p.Glu4200Gln) c.12670G>C (p.Glu4224Gln) | |
| 1 | g.237784349G= | CA2487482481 | RYR2 | c.*3729G= (n.*3729G=) c.12625G= (p.Glu4209=) c.12658G= (p.Glu4220=) c.4814G= c.12637G= (p.Glu4213=) c.2690G= c.12589G= (p.Glu4197=) n.3832G= c.12691G= (p.Glu4231=) c.12688G= (p.Glu4230=) c.12667G= (p.Glu4223=) c.12661G= (p.Glu4221=) c.12655G= (p.Glu4219=) c.12631G= (p.Glu4211=) c.12454G= (p.Glu4152=) c.12598G= (p.Glu4200=) c.12670G= (p.Glu4224=) | |
| 1 | g.237784349G>T | CA345413804 | RYR2 | c.*3729G>T (n.*3729G>T) c.12625G>T (p.Glu4209Ter) c.12658G>T (p.Glu4220Ter) c.4814G>T c.12637G>T (p.Glu4213Ter) c.2690G>T c.12589G>T (p.Glu4197Ter) n.3832G>T c.12691G>T (p.Glu4231Ter) c.12688G>T (p.Glu4230Ter) c.12667G>T (p.Glu4223Ter) c.12661G>T (p.Glu4221Ter) c.12655G>T (p.Glu4219Ter) c.12631G>T (p.Glu4211Ter) c.12454G>T (p.Glu4152Ter) c.12598G>T (p.Glu4200Ter) c.12670G>T (p.Glu4224Ter) | gnomAD v4 COSMIC |
| 1 | g.237784350A= | CA2487482482 | RYR2 | c.*3730A= (n.*3730A=) c.12626A= (p.Glu4209=) c.12659A= (p.Glu4220=) c.4815A= c.12638A= (p.Glu4213=) c.2691A= c.12590A= (p.Glu4197=) n.3833A= c.12692A= (p.Glu4231=) c.12689A= (p.Glu4230=) c.12668A= (p.Glu4223=) c.12662A= (p.Glu4221=) c.12656A= (p.Glu4219=) c.12632A= (p.Glu4211=) c.12455A= (p.Glu4152=) c.12599A= (p.Glu4200=) c.12671A= (p.Glu4224=) | |
| 1 | g.237784350A>C | CA345413805 | RYR2 | c.*3730A>C (n.*3730A>C) c.12626A>C (p.Glu4209Ala) c.12659A>C (p.Glu4220Ala) c.4815A>C c.12638A>C (p.Glu4213Ala) c.2691A>C c.12590A>C (p.Glu4197Ala) n.3833A>C c.12692A>C (p.Glu4231Ala) c.12689A>C (p.Glu4230Ala) c.12668A>C (p.Glu4223Ala) c.12662A>C (p.Glu4221Ala) c.12656A>C (p.Glu4219Ala) c.12632A>C (p.Glu4211Ala) c.12455A>C (p.Glu4152Ala) c.12599A>C (p.Glu4200Ala) c.12671A>C (p.Glu4224Ala) | |
| 1 | g.237784350A>G | CA345413806 | RYR2 | c.*3730A>G (n.*3730A>G) c.12626A>G (p.Glu4209Gly) c.12659A>G (p.Glu4220Gly) c.4815A>G c.12638A>G (p.Glu4213Gly) c.2691A>G c.12590A>G (p.Glu4197Gly) n.3833A>G c.12692A>G (p.Glu4231Gly) c.12689A>G (p.Glu4230Gly) c.12668A>G (p.Glu4223Gly) c.12662A>G (p.Glu4221Gly) c.12656A>G (p.Glu4219Gly) c.12632A>G (p.Glu4211Gly) c.12455A>G (p.Glu4152Gly) c.12599A>G (p.Glu4200Gly) c.12671A>G (p.Glu4224Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784350A>T | CA345413807 | RYR2 | c.*3730A>T (n.*3730A>T) c.12626A>T (p.Glu4209Val) c.12659A>T (p.Glu4220Val) c.4815A>T c.12638A>T (p.Glu4213Val) c.2691A>T c.12590A>T (p.Glu4197Val) n.3833A>T c.12692A>T (p.Glu4231Val) c.12689A>T (p.Glu4230Val) c.12668A>T (p.Glu4223Val) c.12662A>T (p.Glu4221Val) c.12656A>T (p.Glu4219Val) c.12632A>T (p.Glu4211Val) c.12455A>T (p.Glu4152Val) c.12599A>T (p.Glu4200Val) c.12671A>T (p.Glu4224Val) | |
| 1 | g.237784351G>A | CA424032105 | RYR2 | c.*3731G>A (n.*3731G>A) c.12627G>A (p.Glu4209=) c.12660G>A (p.Glu4220=) c.4816G>A c.12639G>A (p.Glu4213=) c.2692G>A c.12591G>A (p.Glu4197=) n.3834G>A c.12693G>A (p.Glu4231=) c.12690G>A (p.Glu4230=) c.12669G>A (p.Glu4223=) c.12663G>A (p.Glu4221=) c.12657G>A (p.Glu4219=) c.12633G>A (p.Glu4211=) c.12456G>A (p.Glu4152=) c.12600G>A (p.Glu4200=) c.12672G>A (p.Glu4224=) | |
| 1 | g.237784351G>C | CA345413808 | RYR2 | c.*3731G>C (n.*3731G>C) c.12627G>C (p.Glu4209Asp) c.12660G>C (p.Glu4220Asp) c.4816G>C c.12639G>C (p.Glu4213Asp) c.2692G>C c.12591G>C (p.Glu4197Asp) n.3834G>C c.12693G>C (p.Glu4231Asp) c.12690G>C (p.Glu4230Asp) c.12669G>C (p.Glu4223Asp) c.12663G>C (p.Glu4221Asp) c.12657G>C (p.Glu4219Asp) c.12633G>C (p.Glu4211Asp) c.12456G>C (p.Glu4152Asp) c.12600G>C (p.Glu4200Asp) c.12672G>C (p.Glu4224Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237784351G= | CA2487482483 | RYR2 | c.*3731G= (n.*3731G=) c.12627G= (p.Glu4209=) c.12660G= (p.Glu4220=) c.4816G= c.12639G= (p.Glu4213=) c.2692G= c.12591G= (p.Glu4197=) n.3834G= c.12693G= (p.Glu4231=) c.12690G= (p.Glu4230=) c.12669G= (p.Glu4223=) c.12663G= (p.Glu4221=) c.12657G= (p.Glu4219=) c.12633G= (p.Glu4211=) c.12456G= (p.Glu4152=) c.12600G= (p.Glu4200=) c.12672G= (p.Glu4224=) | |
| 1 | g.237784351G>T | CA345413809 | RYR2 | c.*3731G>T (n.*3731G>T) c.12627G>T (p.Glu4209Asp) c.12660G>T (p.Glu4220Asp) c.4816G>T c.12639G>T (p.Glu4213Asp) c.2692G>T c.12591G>T (p.Glu4197Asp) n.3834G>T c.12693G>T (p.Glu4231Asp) c.12690G>T (p.Glu4230Asp) c.12669G>T (p.Glu4223Asp) c.12663G>T (p.Glu4221Asp) c.12657G>T (p.Glu4219Asp) c.12633G>T (p.Glu4211Asp) c.12456G>T (p.Glu4152Asp) c.12600G>T (p.Glu4200Asp) c.12672G>T (p.Glu4224Asp) | |
| 1 | g.237784352A>C | CA424032106 | RYR2 | c.*3732A>C (n.*3732A>C) c.12628A>C (p.Arg4210=) c.12661A>C (p.Arg4221=) c.4817A>C c.12640A>C (p.Arg4214=) c.2693A>C c.12592A>C (p.Arg4198=) n.3835A>C c.12694A>C (p.Arg4232=) c.12691A>C (p.Arg4231=) c.12670A>C (p.Arg4224=) c.12664A>C (p.Arg4222=) c.12658A>C (p.Arg4220=) c.12634A>C (p.Arg4212=) c.12457A>C (p.Arg4153=) c.12601A>C (p.Arg4201=) c.12673A>C (p.Arg4225=) | |
| 1 | g.237784352A>G | CA345413810 | RYR2 | c.*3732A>G (n.*3732A>G) c.12628A>G (p.Arg4210Gly) c.12661A>G (p.Arg4221Gly) c.4817A>G c.12640A>G (p.Arg4214Gly) c.2693A>G c.12592A>G (p.Arg4198Gly) n.3835A>G c.12694A>G (p.Arg4232Gly) c.12691A>G (p.Arg4231Gly) c.12670A>G (p.Arg4224Gly) c.12664A>G (p.Arg4222Gly) c.12658A>G (p.Arg4220Gly) c.12634A>G (p.Arg4212Gly) c.12457A>G (p.Arg4153Gly) c.12601A>G (p.Arg4201Gly) c.12673A>G (p.Arg4225Gly) | |
| 1 | g.237784352A>T | CA345413811 | RYR2 | c.*3732A>T (n.*3732A>T) c.12628A>T (p.Arg4210Trp) c.12661A>T (p.Arg4221Trp) c.4817A>T c.12640A>T (p.Arg4214Trp) c.2693A>T c.12592A>T (p.Arg4198Trp) n.3835A>T c.12694A>T (p.Arg4232Trp) c.12691A>T (p.Arg4231Trp) c.12670A>T (p.Arg4224Trp) c.12664A>T (p.Arg4222Trp) c.12658A>T (p.Arg4220Trp) c.12634A>T (p.Arg4212Trp) c.12457A>T (p.Arg4153Trp) c.12601A>T (p.Arg4201Trp) c.12673A>T (p.Arg4225Trp) | |
| 1 | g.237784353G>A | CA345413812 | RYR2 | c.*3733G>A (n.*3733G>A) c.12629G>A (p.Arg4210Lys) c.12662G>A (p.Arg4221Lys) c.4818G>A c.12641G>A (p.Arg4214Lys) c.2694G>A c.12593G>A (p.Arg4198Lys) n.3836G>A c.12695G>A (p.Arg4232Lys) c.12692G>A (p.Arg4231Lys) c.12671G>A (p.Arg4224Lys) c.12665G>A (p.Arg4222Lys) c.12659G>A (p.Arg4220Lys) c.12635G>A (p.Arg4212Lys) c.12458G>A (p.Arg4153Lys) c.12602G>A (p.Arg4201Lys) c.12674G>A (p.Arg4225Lys) | |
| 1 | g.237784353G>C | CA345413813 | RYR2 | c.*3733G>C (n.*3733G>C) c.12629G>C (p.Arg4210Thr) c.12662G>C (p.Arg4221Thr) c.4818G>C c.12641G>C (p.Arg4214Thr) c.2694G>C c.12593G>C (p.Arg4198Thr) n.3836G>C c.12695G>C (p.Arg4232Thr) c.12692G>C (p.Arg4231Thr) c.12671G>C (p.Arg4224Thr) c.12665G>C (p.Arg4222Thr) c.12659G>C (p.Arg4220Thr) c.12635G>C (p.Arg4212Thr) c.12458G>C (p.Arg4153Thr) c.12602G>C (p.Arg4201Thr) c.12674G>C (p.Arg4225Thr) | |
| 1 | g.237784353G>T | CA345413814 | RYR2 | c.*3733G>T (n.*3733G>T) c.12629G>T (p.Arg4210Met) c.12662G>T (p.Arg4221Met) c.4818G>T c.12641G>T (p.Arg4214Met) c.2694G>T c.12593G>T (p.Arg4198Met) n.3836G>T c.12695G>T (p.Arg4232Met) c.12692G>T (p.Arg4231Met) c.12671G>T (p.Arg4224Met) c.12665G>T (p.Arg4222Met) c.12659G>T (p.Arg4220Met) c.12635G>T (p.Arg4212Met) c.12458G>T (p.Arg4153Met) c.12602G>T (p.Arg4201Met) c.12674G>T (p.Arg4225Met) | |
| 1 | g.237784354G>A | CA424032108 | RYR2 | c.*3734G>A (n.*3734G>A) c.12630G>A (p.Arg4210=) c.12663G>A (p.Arg4221=) c.4819G>A c.12642G>A (p.Arg4214=) c.2695G>A c.12594G>A (p.Arg4198=) n.3837G>A c.12696G>A (p.Arg4232=) c.12693G>A (p.Arg4231=) c.12672G>A (p.Arg4224=) c.12666G>A (p.Arg4222=) c.12660G>A (p.Arg4220=) c.12636G>A (p.Arg4212=) c.12459G>A (p.Arg4153=) c.12603G>A (p.Arg4201=) c.12675G>A (p.Arg4225=) | |
| 1 | g.237784354G>C | CA345413816 | RYR2 | c.*3734G>C (n.*3734G>C) c.12630G>C (p.Arg4210Ser) c.12663G>C (p.Arg4221Ser) c.4819G>C c.12642G>C (p.Arg4214Ser) c.2695G>C c.12594G>C (p.Arg4198Ser) n.3837G>C c.12696G>C (p.Arg4232Ser) c.12693G>C (p.Arg4231Ser) c.12672G>C (p.Arg4224Ser) c.12666G>C (p.Arg4222Ser) c.12660G>C (p.Arg4220Ser) c.12636G>C (p.Arg4212Ser) c.12459G>C (p.Arg4153Ser) c.12603G>C (p.Arg4201Ser) c.12675G>C (p.Arg4225Ser) | |
| 1 | g.237784354G>T | CA345413815 | RYR2 | c.*3734G>T (n.*3734G>T) c.12630G>T (p.Arg4210Ser) c.12663G>T (p.Arg4221Ser) c.4819G>T c.12642G>T (p.Arg4214Ser) c.2695G>T c.12594G>T (p.Arg4198Ser) n.3837G>T c.12696G>T (p.Arg4232Ser) c.12693G>T (p.Arg4231Ser) c.12672G>T (p.Arg4224Ser) c.12666G>T (p.Arg4222Ser) c.12660G>T (p.Arg4220Ser) c.12636G>T (p.Arg4212Ser) c.12459G>T (p.Arg4153Ser) c.12603G>T (p.Arg4201Ser) c.12675G>T (p.Arg4225Ser) | |
| 1 | g.237784355T>A | CA345413817 | RYR2 | c.*3735T>A (n.*3735T>A) c.12631T>A (p.Ser4211Thr) c.12664T>A (p.Ser4222Thr) c.4820T>A c.12643T>A (p.Ser4215Thr) c.2696T>A c.12595T>A (p.Ser4199Thr) n.3838T>A c.12697T>A (p.Ser4233Thr) c.12694T>A (p.Ser4232Thr) c.12673T>A (p.Ser4225Thr) c.12667T>A (p.Ser4223Thr) c.12661T>A (p.Ser4221Thr) c.12637T>A (p.Ser4213Thr) c.12460T>A (p.Ser4154Thr) c.12604T>A (p.Ser4202Thr) c.12676T>A (p.Ser4226Thr) | |
| 1 | g.237784355T>C | CA345413818 | RYR2 | c.*3735T>C (n.*3735T>C) c.12631T>C (p.Ser4211Pro) c.12664T>C (p.Ser4222Pro) c.4820T>C c.12643T>C (p.Ser4215Pro) c.2696T>C c.12595T>C (p.Ser4199Pro) n.3838T>C c.12697T>C (p.Ser4233Pro) c.12694T>C (p.Ser4232Pro) c.12673T>C (p.Ser4225Pro) c.12667T>C (p.Ser4223Pro) c.12661T>C (p.Ser4221Pro) c.12637T>C (p.Ser4213Pro) c.12460T>C (p.Ser4154Pro) c.12604T>C (p.Ser4202Pro) c.12676T>C (p.Ser4226Pro) | |
| 1 | g.237784355T>G | CA345413819 | RYR2 | c.*3735T>G (n.*3735T>G) c.12631T>G (p.Ser4211Ala) c.12664T>G (p.Ser4222Ala) c.4820T>G c.12643T>G (p.Ser4215Ala) c.2696T>G c.12595T>G (p.Ser4199Ala) n.3838T>G c.12697T>G (p.Ser4233Ala) c.12694T>G (p.Ser4232Ala) c.12673T>G (p.Ser4225Ala) c.12667T>G (p.Ser4223Ala) c.12661T>G (p.Ser4221Ala) c.12637T>G (p.Ser4213Ala) c.12460T>G (p.Ser4154Ala) c.12604T>G (p.Ser4202Ala) c.12676T>G (p.Ser4226Ala) | |
| 1 | g.237784356C>A | CA345413820 | RYR2 | c.*3736C>A (n.*3736C>A) c.12632C>A (p.Ser4211Ter) c.12665C>A (p.Ser4222Ter) c.4821C>A c.12644C>A (p.Ser4215Ter) c.2697C>A c.12596C>A (p.Ser4199Ter) n.3839C>A c.12698C>A (p.Ser4233Ter) c.12695C>A (p.Ser4232Ter) c.12674C>A (p.Ser4225Ter) c.12668C>A (p.Ser4223Ter) c.12662C>A (p.Ser4221Ter) c.12638C>A (p.Ser4213Ter) c.12461C>A (p.Ser4154Ter) c.12605C>A (p.Ser4202Ter) c.12677C>A (p.Ser4226Ter) | |
| 1 | g.237784356C>G | CA345413821 | RYR2 | c.*3736C>G (n.*3736C>G) c.12632C>G (p.Ser4211Ter) c.12665C>G (p.Ser4222Ter) c.4821C>G c.12644C>G (p.Ser4215Ter) c.2697C>G c.12596C>G (p.Ser4199Ter) n.3839C>G c.12698C>G (p.Ser4233Ter) c.12695C>G (p.Ser4232Ter) c.12674C>G (p.Ser4225Ter) c.12668C>G (p.Ser4223Ter) c.12662C>G (p.Ser4221Ter) c.12638C>G (p.Ser4213Ter) c.12461C>G (p.Ser4154Ter) c.12605C>G (p.Ser4202Ter) c.12677C>G (p.Ser4226Ter) | |
| 1 | g.237784356C>T | CA345413822 | RYR2 | c.*3736C>T (n.*3736C>T) c.12632C>T (p.Ser4211Leu) c.12665C>T (p.Ser4222Leu) c.4821C>T c.12644C>T (p.Ser4215Leu) c.2697C>T c.12596C>T (p.Ser4199Leu) n.3839C>T c.12698C>T (p.Ser4233Leu) c.12695C>T (p.Ser4232Leu) c.12674C>T (p.Ser4225Leu) c.12668C>T (p.Ser4223Leu) c.12662C>T (p.Ser4221Leu) c.12638C>T (p.Ser4213Leu) c.12461C>T (p.Ser4154Leu) c.12605C>T (p.Ser4202Leu) c.12677C>T (p.Ser4226Leu) | |
| 1 | g.237784357A>C | CA424032110 | RYR2 | c.*3737A>C (n.*3737A>C) c.12633A>C (p.Ser4211=) c.12666A>C (p.Ser4222=) c.4822A>C c.12645A>C (p.Ser4215=) c.2698A>C c.12597A>C (p.Ser4199=) n.3840A>C c.12699A>C (p.Ser4233=) c.12696A>C (p.Ser4232=) c.12675A>C (p.Ser4225=) c.12669A>C (p.Ser4223=) c.12663A>C (p.Ser4221=) c.12639A>C (p.Ser4213=) c.12462A>C (p.Ser4154=) c.12606A>C (p.Ser4202=) c.12678A>C (p.Ser4226=) | |
| 1 | g.237784357A>G | CA424032112 | RYR2 | c.*3737A>G (n.*3737A>G) c.12633A>G (p.Ser4211=) c.12666A>G (p.Ser4222=) c.4822A>G c.12645A>G (p.Ser4215=) c.2698A>G c.12597A>G (p.Ser4199=) n.3840A>G c.12699A>G (p.Ser4233=) c.12696A>G (p.Ser4232=) c.12675A>G (p.Ser4225=) c.12669A>G (p.Ser4223=) c.12663A>G (p.Ser4221=) c.12639A>G (p.Ser4213=) c.12462A>G (p.Ser4154=) c.12606A>G (p.Ser4202=) c.12678A>G (p.Ser4226=) | gnomAD v4 |
| 1 | g.237784357A>T | CA424032111 | RYR2 | c.*3737A>T (n.*3737A>T) c.12633A>T (p.Ser4211=) c.12666A>T (p.Ser4222=) c.4822A>T c.12645A>T (p.Ser4215=) c.2698A>T c.12597A>T (p.Ser4199=) n.3840A>T c.12699A>T (p.Ser4233=) c.12696A>T (p.Ser4232=) c.12675A>T (p.Ser4225=) c.12669A>T (p.Ser4223=) c.12663A>T (p.Ser4221=) c.12639A>T (p.Ser4213=) c.12462A>T (p.Ser4154=) c.12606A>T (p.Ser4202=) c.12678A>T (p.Ser4226=) | |
| 1 | g.237784358G>A | CA066535 | RYR2 | c.*3738G>A (n.*3738G>A) c.12634G>A (p.Ala4212Thr) c.12667G>A (p.Ala4223Thr) c.4823G>A c.12646G>A (p.Ala4216Thr) c.2699G>A c.12598G>A (p.Ala4200Thr) n.3841G>A c.12700G>A (p.Ala4234Thr) c.12697G>A (p.Ala4233Thr) c.12676G>A (p.Ala4226Thr) c.12670G>A (p.Ala4224Thr) c.12664G>A (p.Ala4222Thr) c.12640G>A (p.Ala4214Thr) c.12463G>A (p.Ala4155Thr) c.12607G>A (p.Ala4203Thr) c.12679G>A (p.Ala4227Thr) | dbSNP |
| 1 | g.237784358G>C | CA345413823 | RYR2 | c.*3738G>C (n.*3738G>C) c.12634G>C (p.Ala4212Pro) c.12667G>C (p.Ala4223Pro) c.4823G>C c.12646G>C (p.Ala4216Pro) c.2699G>C c.12598G>C (p.Ala4200Pro) n.3841G>C c.12700G>C (p.Ala4234Pro) c.12697G>C (p.Ala4233Pro) c.12676G>C (p.Ala4226Pro) c.12670G>C (p.Ala4224Pro) c.12664G>C (p.Ala4222Pro) c.12640G>C (p.Ala4214Pro) c.12463G>C (p.Ala4155Pro) c.12607G>C (p.Ala4203Pro) c.12679G>C (p.Ala4227Pro) | |
| 1 | g.237784358G= | CA2487482484 | RYR2 | c.*3738G= (n.*3738G=) c.12634G= (p.Ala4212=) c.12667G= (p.Ala4223=) c.4823G= c.12646G= (p.Ala4216=) c.2699G= c.12598G= (p.Ala4200=) n.3841G= c.12700G= (p.Ala4234=) c.12697G= (p.Ala4233=) c.12676G= (p.Ala4226=) c.12670G= (p.Ala4224=) c.12664G= (p.Ala4222=) c.12640G= (p.Ala4214=) c.12463G= (p.Ala4155=) c.12607G= (p.Ala4203=) c.12679G= (p.Ala4227=) | |
| 1 | g.237784358G>T | CA345413824 | RYR2 | c.*3738G>T (n.*3738G>T) c.12634G>T (p.Ala4212Ser) c.12667G>T (p.Ala4223Ser) c.4823G>T c.12646G>T (p.Ala4216Ser) c.2699G>T c.12598G>T (p.Ala4200Ser) n.3841G>T c.12700G>T (p.Ala4234Ser) c.12697G>T (p.Ala4233Ser) c.12676G>T (p.Ala4226Ser) c.12670G>T (p.Ala4224Ser) c.12664G>T (p.Ala4222Ser) c.12640G>T (p.Ala4214Ser) c.12463G>T (p.Ala4155Ser) c.12607G>T (p.Ala4203Ser) c.12679G>T (p.Ala4227Ser) | |
| 1 | g.237784359C>A | CA345413825 | RYR2 | c.*3739C>A (n.*3739C>A) c.12635C>A (p.Ala4212Glu) c.12668C>A (p.Ala4223Glu) c.4824C>A c.12647C>A (p.Ala4216Glu) c.2700C>A c.12599C>A (p.Ala4200Glu) n.3842C>A c.12701C>A (p.Ala4234Glu) c.12698C>A (p.Ala4233Glu) c.12677C>A (p.Ala4226Glu) c.12671C>A (p.Ala4224Glu) c.12665C>A (p.Ala4222Glu) c.12641C>A (p.Ala4214Glu) c.12464C>A (p.Ala4155Glu) c.12608C>A (p.Ala4203Glu) c.12680C>A (p.Ala4227Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237784359C= | CA1144094922 | RYR2 | c.*3739C= (n.*3739C=) c.12635C= (p.Ala4212=) c.12668C= (p.Ala4223=) c.4824C= c.12647C= (p.Ala4216=) c.2700C= c.12599C= (p.Ala4200=) n.3842C= c.12701C= (p.Ala4234=) c.12698C= (p.Ala4233=) c.12677C= (p.Ala4226=) c.12671C= (p.Ala4224=) c.12665C= (p.Ala4222=) c.12641C= (p.Ala4214=) c.12464C= (p.Ala4155=) c.12608C= (p.Ala4203=) c.12680C= (p.Ala4227=) | |
| 1 | g.237784359C>G | CA345413826 | RYR2 | c.*3739C>G (n.*3739C>G) c.12635C>G (p.Ala4212Gly) c.12668C>G (p.Ala4223Gly) c.4824C>G c.12647C>G (p.Ala4216Gly) c.2700C>G c.12599C>G (p.Ala4200Gly) n.3842C>G c.12701C>G (p.Ala4234Gly) c.12698C>G (p.Ala4233Gly) c.12677C>G (p.Ala4226Gly) c.12671C>G (p.Ala4224Gly) c.12665C>G (p.Ala4222Gly) c.12641C>G (p.Ala4214Gly) c.12464C>G (p.Ala4155Gly) c.12608C>G (p.Ala4203Gly) c.12680C>G (p.Ala4227Gly) | |
| 1 | g.237784359C>T | CA085207 | RYR2 | c.*3739C>T (n.*3739C>T) c.12635C>T (p.Ala4212Val) c.12668C>T (p.Ala4223Val) c.4824C>T c.12647C>T (p.Ala4216Val) c.2700C>T c.12599C>T (p.Ala4200Val) n.3842C>T c.12701C>T (p.Ala4234Val) c.12698C>T (p.Ala4233Val) c.12677C>T (p.Ala4226Val) c.12671C>T (p.Ala4224Val) c.12665C>T (p.Ala4222Val) c.12641C>T (p.Ala4214Val) c.12464C>T (p.Ala4155Val) c.12608C>T (p.Ala4203Val) c.12680C>T (p.Ala4227Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.237784360G>A | CA085208 | RYR2 | c.*3740G>A (n.*3740G>A) c.12636G>A (p.Ala4212=) c.12669G>A (p.Ala4223=) c.4825G>A c.12648G>A (p.Ala4216=) c.2701G>A c.12600G>A (p.Ala4200=) n.3843G>A c.12702G>A (p.Ala4234=) c.12699G>A (p.Ala4233=) c.12678G>A (p.Ala4226=) c.12672G>A (p.Ala4224=) c.12666G>A (p.Ala4222=) c.12642G>A (p.Ala4214=) c.12465G>A (p.Ala4155=) c.12609G>A (p.Ala4203=) c.12681G>A (p.Ala4227=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.237784360G>C | CA424032119 | RYR2 | c.*3740G>C (n.*3740G>C) c.12636G>C (p.Ala4212=) c.12669G>C (p.Ala4223=) c.4825G>C c.12648G>C (p.Ala4216=) c.2701G>C c.12600G>C (p.Ala4200=) n.3843G>C c.12702G>C (p.Ala4234=) c.12699G>C (p.Ala4233=) c.12678G>C (p.Ala4226=) c.12672G>C (p.Ala4224=) c.12666G>C (p.Ala4222=) c.12642G>C (p.Ala4214=) c.12465G>C (p.Ala4155=) c.12609G>C (p.Ala4203=) c.12681G>C (p.Ala4227=) | |
| 1 | g.237784360G= | CA2487482485 | RYR2 | c.*3740G= (n.*3740G=) c.12636G= (p.Ala4212=) c.12669G= (p.Ala4223=) c.4825G= c.12648G= (p.Ala4216=) c.2701G= c.12600G= (p.Ala4200=) n.3843G= c.12702G= (p.Ala4234=) c.12699G= (p.Ala4233=) c.12678G= (p.Ala4226=) c.12672G= (p.Ala4224=) c.12666G= (p.Ala4222=) c.12642G= (p.Ala4214=) c.12465G= (p.Ala4155=) c.12609G= (p.Ala4203=) c.12681G= (p.Ala4227=) | |
| 1 | g.237784360G>T | CA424032120 | RYR2 | c.*3740G>T (n.*3740G>T) c.12636G>T (p.Ala4212=) c.12669G>T (p.Ala4223=) c.4825G>T c.12648G>T (p.Ala4216=) c.2701G>T c.12600G>T (p.Ala4200=) n.3843G>T c.12702G>T (p.Ala4234=) c.12699G>T (p.Ala4233=) c.12678G>T (p.Ala4226=) c.12672G>T (p.Ala4224=) c.12666G>T (p.Ala4222=) c.12642G>T (p.Ala4214=) c.12465G>T (p.Ala4155=) c.12609G>T (p.Ala4203=) c.12681G>T (p.Ala4227=) | |
| 1 | g.237784361A>C | CA345413829 | RYR2 | c.*3741A>C (n.*3741A>C) c.12637A>C (p.Asn4213His) c.12670A>C (p.Asn4224His) c.4826A>C c.12649A>C (p.Asn4217His) c.2702A>C c.12601A>C (p.Asn4201His) n.3844A>C c.12703A>C (p.Asn4235His) c.12700A>C (p.Asn4234His) c.12679A>C (p.Asn4227His) c.12673A>C (p.Asn4225His) c.12667A>C (p.Asn4223His) c.12643A>C (p.Asn4215His) c.12466A>C (p.Asn4156His) c.12610A>C (p.Asn4204His) c.12682A>C (p.Asn4228His) | |
| 1 | g.237784361A>G | CA345413828 | RYR2 | c.*3741A>G (n.*3741A>G) c.12637A>G (p.Asn4213Asp) c.12670A>G (p.Asn4224Asp) c.4826A>G c.12649A>G (p.Asn4217Asp) c.2702A>G c.12601A>G (p.Asn4201Asp) n.3844A>G c.12703A>G (p.Asn4235Asp) c.12700A>G (p.Asn4234Asp) c.12679A>G (p.Asn4227Asp) c.12673A>G (p.Asn4225Asp) c.12667A>G (p.Asn4223Asp) c.12643A>G (p.Asn4215Asp) c.12466A>G (p.Asn4156Asp) c.12610A>G (p.Asn4204Asp) c.12682A>G (p.Asn4228Asp) | |
| 1 | g.237784361A>T | CA345413827 | RYR2 | c.*3741A>T (n.*3741A>T) c.12637A>T (p.Asn4213Tyr) c.12670A>T (p.Asn4224Tyr) c.4826A>T c.12649A>T (p.Asn4217Tyr) c.2702A>T c.12601A>T (p.Asn4201Tyr) n.3844A>T c.12703A>T (p.Asn4235Tyr) c.12700A>T (p.Asn4234Tyr) c.12679A>T (p.Asn4227Tyr) c.12673A>T (p.Asn4225Tyr) c.12667A>T (p.Asn4223Tyr) c.12643A>T (p.Asn4215Tyr) c.12466A>T (p.Asn4156Tyr) c.12610A>T (p.Asn4204Tyr) c.12682A>T (p.Asn4228Tyr) | |
| 1 | g.237784362A>C | CA345413830 | RYR2 | c.*3742A>C (n.*3742A>C) c.12638A>C (p.Asn4213Thr) c.12671A>C (p.Asn4224Thr) c.4827A>C c.12650A>C (p.Asn4217Thr) c.2703A>C c.12602A>C (p.Asn4201Thr) n.3845A>C c.12704A>C (p.Asn4235Thr) c.12701A>C (p.Asn4234Thr) c.12680A>C (p.Asn4227Thr) c.12674A>C (p.Asn4225Thr) c.12668A>C (p.Asn4223Thr) c.12644A>C (p.Asn4215Thr) c.12467A>C (p.Asn4156Thr) c.12611A>C (p.Asn4204Thr) c.12683A>C (p.Asn4228Thr) | |
| 1 | g.237784362A>G | CA345413832 | RYR2 | c.*3742A>G (n.*3742A>G) c.12638A>G (p.Asn4213Ser) c.12671A>G (p.Asn4224Ser) c.4827A>G c.12650A>G (p.Asn4217Ser) c.2703A>G c.12602A>G (p.Asn4201Ser) n.3845A>G c.12704A>G (p.Asn4235Ser) c.12701A>G (p.Asn4234Ser) c.12680A>G (p.Asn4227Ser) c.12674A>G (p.Asn4225Ser) c.12668A>G (p.Asn4223Ser) c.12644A>G (p.Asn4215Ser) c.12467A>G (p.Asn4156Ser) c.12611A>G (p.Asn4204Ser) c.12683A>G (p.Asn4228Ser) | |
| 1 | g.237784362A>T | CA345413831 | RYR2 | c.*3742A>T (n.*3742A>T) c.12638A>T (p.Asn4213Ile) c.12671A>T (p.Asn4224Ile) c.4827A>T c.12650A>T (p.Asn4217Ile) c.2703A>T c.12602A>T (p.Asn4201Ile) n.3845A>T c.12704A>T (p.Asn4235Ile) c.12701A>T (p.Asn4234Ile) c.12680A>T (p.Asn4227Ile) c.12674A>T (p.Asn4225Ile) c.12668A>T (p.Asn4223Ile) c.12644A>T (p.Asn4215Ile) c.12467A>T (p.Asn4156Ile) c.12611A>T (p.Asn4204Ile) c.12683A>T (p.Asn4228Ile) | |
| 1 | g.237784363T>A | CA345413833 | RYR2 | c.*3743T>A (n.*3743T>A) c.12639T>A (p.Asn4213Lys) c.12672T>A (p.Asn4224Lys) c.4828T>A c.12651T>A (p.Asn4217Lys) c.2704T>A c.12603T>A (p.Asn4201Lys) n.3846T>A c.12705T>A (p.Asn4235Lys) c.12702T>A (p.Asn4234Lys) c.12681T>A (p.Asn4227Lys) c.12675T>A (p.Asn4225Lys) c.12669T>A (p.Asn4223Lys) c.12645T>A (p.Asn4215Lys) c.12468T>A (p.Asn4156Lys) c.12612T>A (p.Asn4204Lys) c.12684T>A (p.Asn4228Lys) | |
| 1 | g.237784363T>C | CA424032124 | RYR2 | c.*3743T>C (n.*3743T>C) c.12639T>C (p.Asn4213=) c.12672T>C (p.Asn4224=) c.4828T>C c.12651T>C (p.Asn4217=) c.2704T>C c.12603T>C (p.Asn4201=) n.3846T>C c.12705T>C (p.Asn4235=) c.12702T>C (p.Asn4234=) c.12681T>C (p.Asn4227=) c.12675T>C (p.Asn4225=) c.12669T>C (p.Asn4223=) c.12645T>C (p.Asn4215=) c.12468T>C (p.Asn4156=) c.12612T>C (p.Asn4204=) c.12684T>C (p.Asn4228=) | dbSNP |
| 1 | g.237784363T>G | CA345413834 | RYR2 | c.*3743T>G (n.*3743T>G) c.12639T>G (p.Asn4213Lys) c.12672T>G (p.Asn4224Lys) c.4828T>G c.12651T>G (p.Asn4217Lys) c.2704T>G c.12603T>G (p.Asn4201Lys) n.3846T>G c.12705T>G (p.Asn4235Lys) c.12702T>G (p.Asn4234Lys) c.12681T>G (p.Asn4227Lys) c.12675T>G (p.Asn4225Lys) c.12669T>G (p.Asn4223Lys) c.12645T>G (p.Asn4215Lys) c.12468T>G (p.Asn4156Lys) c.12612T>G (p.Asn4204Lys) c.12684T>G (p.Asn4228Lys) | |
| 1 | g.237784364A>C | CA345413835 | RYR2 | c.*3744A>C (n.*3744A>C) c.12640A>C (p.Lys4214Gln) c.12673A>C (p.Lys4225Gln) c.4829A>C c.12652A>C (p.Lys4218Gln) c.2705A>C c.12604A>C (p.Lys4202Gln) n.3847A>C c.12706A>C (p.Lys4236Gln) c.12703A>C (p.Lys4235Gln) c.12682A>C (p.Lys4228Gln) c.12676A>C (p.Lys4226Gln) c.12670A>C (p.Lys4224Gln) c.12646A>C (p.Lys4216Gln) c.12469A>C (p.Lys4157Gln) c.12613A>C (p.Lys4205Gln) c.12685A>C (p.Lys4229Gln) | |
| 1 | g.237784364A>G | CA345413836 | RYR2 | c.*3744A>G (n.*3744A>G) c.12640A>G (p.Lys4214Glu) c.12673A>G (p.Lys4225Glu) c.4829A>G c.12652A>G (p.Lys4218Glu) c.2705A>G c.12604A>G (p.Lys4202Glu) n.3847A>G c.12706A>G (p.Lys4236Glu) c.12703A>G (p.Lys4235Glu) c.12682A>G (p.Lys4228Glu) c.12676A>G (p.Lys4226Glu) c.12670A>G (p.Lys4224Glu) c.12646A>G (p.Lys4216Glu) c.12469A>G (p.Lys4157Glu) c.12613A>G (p.Lys4205Glu) c.12685A>G (p.Lys4229Glu) | |
| 1 | g.237784364A>T | CA345413837 | RYR2 | c.*3744A>T (n.*3744A>T) c.12640A>T (p.Lys4214Ter) c.12673A>T (p.Lys4225Ter) c.4829A>T c.12652A>T (p.Lys4218Ter) c.2705A>T c.12604A>T (p.Lys4202Ter) n.3847A>T c.12706A>T (p.Lys4236Ter) c.12703A>T (p.Lys4235Ter) c.12682A>T (p.Lys4228Ter) c.12676A>T (p.Lys4226Ter) c.12670A>T (p.Lys4224Ter) c.12646A>T (p.Lys4216Ter) c.12469A>T (p.Lys4157Ter) c.12613A>T (p.Lys4205Ter) c.12685A>T (p.Lys4229Ter) | |
| 1 | g.237784365A= | CA2487482486 | RYR2 | c.*3745A= (n.*3745A=) c.12641A= (p.Lys4214=) c.12674A= (p.Lys4225=) c.4830A= c.12653A= (p.Lys4218=) c.2706A= c.12605A= (p.Lys4202=) n.3848A= c.12707A= (p.Lys4236=) c.12704A= (p.Lys4235=) c.12683A= (p.Lys4228=) c.12677A= (p.Lys4226=) c.12671A= (p.Lys4224=) c.12647A= (p.Lys4216=) c.12470A= (p.Lys4157=) c.12614A= (p.Lys4205=) c.12686A= (p.Lys4229=) | |
| 1 | g.237784365A>C | CA345413838 | RYR2 | c.*3745A>C (n.*3745A>C) c.12641A>C (p.Lys4214Thr) c.12674A>C (p.Lys4225Thr) c.4830A>C c.12653A>C (p.Lys4218Thr) c.2706A>C c.12605A>C (p.Lys4202Thr) n.3848A>C c.12707A>C (p.Lys4236Thr) c.12704A>C (p.Lys4235Thr) c.12683A>C (p.Lys4228Thr) c.12677A>C (p.Lys4226Thr) c.12671A>C (p.Lys4224Thr) c.12647A>C (p.Lys4216Thr) c.12470A>C (p.Lys4157Thr) c.12614A>C (p.Lys4205Thr) c.12686A>C (p.Lys4229Thr) | dbSNP |
| 1 | g.237784365A>G | CA345413839 | RYR2 | c.*3745A>G (n.*3745A>G) c.12641A>G (p.Lys4214Arg) c.12674A>G (p.Lys4225Arg) c.4830A>G c.12653A>G (p.Lys4218Arg) c.2706A>G c.12605A>G (p.Lys4202Arg) n.3848A>G c.12707A>G (p.Lys4236Arg) c.12704A>G (p.Lys4235Arg) c.12683A>G (p.Lys4228Arg) c.12677A>G (p.Lys4226Arg) c.12671A>G (p.Lys4224Arg) c.12647A>G (p.Lys4216Arg) c.12470A>G (p.Lys4157Arg) c.12614A>G (p.Lys4205Arg) c.12686A>G (p.Lys4229Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237784365A>T | CA345413840 | RYR2 | c.*3745A>T (n.*3745A>T) c.12641A>T (p.Lys4214Met) c.12674A>T (p.Lys4225Met) c.4830A>T c.12653A>T (p.Lys4218Met) c.2706A>T c.12605A>T (p.Lys4202Met) n.3848A>T c.12707A>T (p.Lys4236Met) c.12704A>T (p.Lys4235Met) c.12683A>T (p.Lys4228Met) c.12677A>T (p.Lys4226Met) c.12671A>T (p.Lys4224Met) c.12647A>T (p.Lys4216Met) c.12470A>T (p.Lys4157Met) c.12614A>T (p.Lys4205Met) c.12686A>T (p.Lys4229Met) | |
| 1 | g.237784366G>A | CA424032133 | RYR2 | c.*3746G>A (n.*3746G>A) c.12642G>A (p.Lys4214=) c.12675G>A (p.Lys4225=) c.4831G>A c.12654G>A (p.Lys4218=) c.2707G>A c.12606G>A (p.Lys4202=) n.3849G>A c.12708G>A (p.Lys4236=) c.12705G>A (p.Lys4235=) c.12684G>A (p.Lys4228=) c.12678G>A (p.Lys4226=) c.12672G>A (p.Lys4224=) c.12648G>A (p.Lys4216=) c.12471G>A (p.Lys4157=) c.12615G>A (p.Lys4205=) c.12687G>A (p.Lys4229=) | |
| 1 | g.237784366G>C | CA345413841 | RYR2 | c.*3746G>C (n.*3746G>C) c.12642G>C (p.Lys4214Asn) c.12675G>C (p.Lys4225Asn) c.4831G>C c.12654G>C (p.Lys4218Asn) c.2707G>C c.12606G>C (p.Lys4202Asn) n.3849G>C c.12708G>C (p.Lys4236Asn) c.12705G>C (p.Lys4235Asn) c.12684G>C (p.Lys4228Asn) c.12678G>C (p.Lys4226Asn) c.12672G>C (p.Lys4224Asn) c.12648G>C (p.Lys4216Asn) c.12471G>C (p.Lys4157Asn) c.12615G>C (p.Lys4205Asn) c.12687G>C (p.Lys4229Asn) | |
| 1 | g.237784366G>T | CA345413842 | RYR2 | c.*3746G>T (n.*3746G>T) c.12642G>T (p.Lys4214Asn) c.12675G>T (p.Lys4225Asn) c.4831G>T c.12654G>T (p.Lys4218Asn) c.2707G>T c.12606G>T (p.Lys4202Asn) n.3849G>T c.12708G>T (p.Lys4236Asn) c.12705G>T (p.Lys4235Asn) c.12684G>T (p.Lys4228Asn) c.12678G>T (p.Lys4226Asn) c.12672G>T (p.Lys4224Asn) c.12648G>T (p.Lys4216Asn) c.12471G>T (p.Lys4157Asn) c.12615G>T (p.Lys4205Asn) c.12687G>T (p.Lys4229Asn) | |
| 1 | g.237784367G>A | CA345413843 | RYR2 | c.*3747G>A (n.*3747G>A) c.12643G>A (p.Glu4215Lys) c.12676G>A (p.Glu4226Lys) c.4832G>A c.12655G>A (p.Glu4219Lys) c.2708G>A c.12607G>A (p.Glu4203Lys) n.3850G>A c.12709G>A (p.Glu4237Lys) c.12706G>A (p.Glu4236Lys) c.12685G>A (p.Glu4229Lys) c.12679G>A (p.Glu4227Lys) c.12673G>A (p.Glu4225Lys) c.12649G>A (p.Glu4217Lys) c.12472G>A (p.Glu4158Lys) c.12616G>A (p.Glu4206Lys) c.12688G>A (p.Glu4230Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.237784367G>C | CA345413844 | RYR2 | c.*3747G>C (n.*3747G>C) c.12643G>C (p.Glu4215Gln) c.12676G>C (p.Glu4226Gln) c.4832G>C c.12655G>C (p.Glu4219Gln) c.2708G>C c.12607G>C (p.Glu4203Gln) n.3850G>C c.12709G>C (p.Glu4237Gln) c.12706G>C (p.Glu4236Gln) c.12685G>C (p.Glu4229Gln) c.12679G>C (p.Glu4227Gln) c.12673G>C (p.Glu4225Gln) c.12649G>C (p.Glu4217Gln) c.12472G>C (p.Glu4158Gln) c.12616G>C (p.Glu4206Gln) c.12688G>C (p.Glu4230Gln) | |
| 1 | g.237784367G= | CA2487482487 | RYR2 | c.*3747G= (n.*3747G=) c.12643G= (p.Glu4215=) c.12676G= (p.Glu4226=) c.4832G= c.12655G= (p.Glu4219=) c.2708G= c.12607G= (p.Glu4203=) n.3850G= c.12709G= (p.Glu4237=) c.12706G= (p.Glu4236=) c.12685G= (p.Glu4229=) c.12679G= (p.Glu4227=) c.12673G= (p.Glu4225=) c.12649G= (p.Glu4217=) c.12472G= (p.Glu4158=) c.12616G= (p.Glu4206=) c.12688G= (p.Glu4230=) | |
| 1 | g.237784367G>T | CA345413845 | RYR2 | c.*3747G>T (n.*3747G>T) c.12643G>T (p.Glu4215Ter) c.12676G>T (p.Glu4226Ter) c.4832G>T c.12655G>T (p.Glu4219Ter) c.2708G>T c.12607G>T (p.Glu4203Ter) n.3850G>T c.12709G>T (p.Glu4237Ter) c.12706G>T (p.Glu4236Ter) c.12685G>T (p.Glu4229Ter) c.12679G>T (p.Glu4227Ter) c.12673G>T (p.Glu4225Ter) c.12649G>T (p.Glu4217Ter) c.12472G>T (p.Glu4158Ter) c.12616G>T (p.Glu4206Ter) c.12688G>T (p.Glu4230Ter) | |
| 1 | g.237784368A>C | CA345413846 | RYR2 | c.*3748A>C (n.*3748A>C) c.12644A>C (p.Glu4215Ala) c.12677A>C (p.Glu4226Ala) c.4833A>C c.12656A>C (p.Glu4219Ala) c.2709A>C c.12608A>C (p.Glu4203Ala) n.3851A>C c.12710A>C (p.Glu4237Ala) c.12707A>C (p.Glu4236Ala) c.12686A>C (p.Glu4229Ala) c.12680A>C (p.Glu4227Ala) c.12674A>C (p.Glu4225Ala) c.12650A>C (p.Glu4217Ala) c.12473A>C (p.Glu4158Ala) c.12617A>C (p.Glu4206Ala) c.12689A>C (p.Glu4230Ala) | |
| 1 | g.237784368A>G | CA345413848 | RYR2 | c.*3748A>G (n.*3748A>G) c.12644A>G (p.Glu4215Gly) c.12677A>G (p.Glu4226Gly) c.4833A>G c.12656A>G (p.Glu4219Gly) c.2709A>G c.12608A>G (p.Glu4203Gly) n.3851A>G c.12710A>G (p.Glu4237Gly) c.12707A>G (p.Glu4236Gly) c.12686A>G (p.Glu4229Gly) c.12680A>G (p.Glu4227Gly) c.12674A>G (p.Glu4225Gly) c.12650A>G (p.Glu4217Gly) c.12473A>G (p.Glu4158Gly) c.12617A>G (p.Glu4206Gly) c.12689A>G (p.Glu4230Gly) | |
| 1 | g.237784368A>T | CA345413847 | RYR2 | c.*3748A>T (n.*3748A>T) c.12644A>T (p.Glu4215Val) c.12677A>T (p.Glu4226Val) c.4833A>T c.12656A>T (p.Glu4219Val) c.2709A>T c.12608A>T (p.Glu4203Val) n.3851A>T c.12710A>T (p.Glu4237Val) c.12707A>T (p.Glu4236Val) c.12686A>T (p.Glu4229Val) c.12680A>T (p.Glu4227Val) c.12674A>T (p.Glu4225Val) c.12650A>T (p.Glu4217Val) c.12473A>T (p.Glu4158Val) c.12617A>T (p.Glu4206Val) c.12689A>T (p.Glu4230Val) | |
| 1 | g.237784369A>C | CA345413849 | RYR2 | c.*3749A>C (n.*3749A>C) c.12645A>C (p.Glu4215Asp) c.12678A>C (p.Glu4226Asp) c.4834A>C c.12657A>C (p.Glu4219Asp) c.2710A>C c.12609A>C (p.Glu4203Asp) n.3852A>C c.12711A>C (p.Glu4237Asp) c.12708A>C (p.Glu4236Asp) c.12687A>C (p.Glu4229Asp) c.12681A>C (p.Glu4227Asp) c.12675A>C (p.Glu4225Asp) c.12651A>C (p.Glu4217Asp) c.12474A>C (p.Glu4158Asp) c.12618A>C (p.Glu4206Asp) c.12690A>C (p.Glu4230Asp) | |
| 1 | g.237784369A>G | CA424032141 | RYR2 | c.*3749A>G (n.*3749A>G) c.12645A>G (p.Glu4215=) c.12678A>G (p.Glu4226=) c.4834A>G c.12657A>G (p.Glu4219=) c.2710A>G c.12609A>G (p.Glu4203=) n.3852A>G c.12711A>G (p.Glu4237=) c.12708A>G (p.Glu4236=) c.12687A>G (p.Glu4229=) c.12681A>G (p.Glu4227=) c.12675A>G (p.Glu4225=) c.12651A>G (p.Glu4217=) c.12474A>G (p.Glu4158=) c.12618A>G (p.Glu4206=) c.12690A>G (p.Glu4230=) | |
| 1 | g.237784369A>T | CA345413850 | RYR2 | c.*3749A>T (n.*3749A>T) c.12645A>T (p.Glu4215Asp) c.12678A>T (p.Glu4226Asp) c.4834A>T c.12657A>T (p.Glu4219Asp) c.2710A>T c.12609A>T (p.Glu4203Asp) n.3852A>T c.12711A>T (p.Glu4237Asp) c.12708A>T (p.Glu4236Asp) c.12687A>T (p.Glu4229Asp) c.12681A>T (p.Glu4227Asp) c.12675A>T (p.Glu4225Asp) c.12651A>T (p.Glu4217Asp) c.12474A>T (p.Glu4158Asp) c.12618A>T (p.Glu4206Asp) c.12690A>T (p.Glu4230Asp) | |
| 1 | g.237784370G>A | CA085209 | RYR2 | c.*3750G>A (n.*3750G>A) c.12646G>A (p.Glu4216Lys) c.12679G>A (p.Glu4227Lys) c.4835G>A c.12658G>A (p.Glu4220Lys) c.2711G>A c.12610G>A (p.Glu4204Lys) n.3853G>A c.12712G>A (p.Glu4238Lys) c.12709G>A (p.Glu4237Lys) c.12688G>A (p.Glu4230Lys) c.12682G>A (p.Glu4228Lys) c.12676G>A (p.Glu4226Lys) c.12652G>A (p.Glu4218Lys) c.12475G>A (p.Glu4159Lys) c.12619G>A (p.Glu4207Lys) c.12691G>A (p.Glu4231Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784370G>C | CA345413851 | RYR2 | c.*3750G>C (n.*3750G>C) c.12646G>C (p.Glu4216Gln) c.12679G>C (p.Glu4227Gln) c.4835G>C c.12658G>C (p.Glu4220Gln) c.2711G>C c.12610G>C (p.Glu4204Gln) n.3853G>C c.12712G>C (p.Glu4238Gln) c.12709G>C (p.Glu4237Gln) c.12688G>C (p.Glu4230Gln) c.12682G>C (p.Glu4228Gln) c.12676G>C (p.Glu4226Gln) c.12652G>C (p.Glu4218Gln) c.12475G>C (p.Glu4159Gln) c.12619G>C (p.Glu4207Gln) c.12691G>C (p.Glu4231Gln) | gnomAD v4 |
| 1 | g.237784370G= | CA2487482488 | RYR2 | c.*3750G= (n.*3750G=) c.12646G= (p.Glu4216=) c.12679G= (p.Glu4227=) c.4835G= c.12658G= (p.Glu4220=) c.2711G= c.12610G= (p.Glu4204=) n.3853G= c.12712G= (p.Glu4238=) c.12709G= (p.Glu4237=) c.12688G= (p.Glu4230=) c.12682G= (p.Glu4228=) c.12676G= (p.Glu4226=) c.12652G= (p.Glu4218=) c.12475G= (p.Glu4159=) c.12619G= (p.Glu4207=) c.12691G= (p.Glu4231=) | |
| 1 | g.237784370G>T | CA345413852 | RYR2 | c.*3750G>T (n.*3750G>T) c.12646G>T (p.Glu4216Ter) c.12679G>T (p.Glu4227Ter) c.4835G>T c.12658G>T (p.Glu4220Ter) c.2711G>T c.12610G>T (p.Glu4204Ter) n.3853G>T c.12712G>T (p.Glu4238Ter) c.12709G>T (p.Glu4237Ter) c.12688G>T (p.Glu4230Ter) c.12682G>T (p.Glu4228Ter) c.12676G>T (p.Glu4226Ter) c.12652G>T (p.Glu4218Ter) c.12475G>T (p.Glu4159Ter) c.12619G>T (p.Glu4207Ter) c.12691G>T (p.Glu4231Ter) | |
| 1 | g.237784371A>C | CA345413853 | RYR2 | c.*3751A>C (n.*3751A>C) c.12647A>C (p.Glu4216Ala) c.12680A>C (p.Glu4227Ala) c.4836A>C c.12659A>C (p.Glu4220Ala) c.2712A>C c.12611A>C (p.Glu4204Ala) n.3854A>C c.12713A>C (p.Glu4238Ala) c.12710A>C (p.Glu4237Ala) c.12689A>C (p.Glu4230Ala) c.12683A>C (p.Glu4228Ala) c.12677A>C (p.Glu4226Ala) c.12653A>C (p.Glu4218Ala) c.12476A>C (p.Glu4159Ala) c.12620A>C (p.Glu4207Ala) c.12692A>C (p.Glu4231Ala) | |
| 1 | g.237784371A>G | CA345413854 | RYR2 | c.*3751A>G (n.*3751A>G) c.12647A>G (p.Glu4216Gly) c.12680A>G (p.Glu4227Gly) c.4836A>G c.12659A>G (p.Glu4220Gly) c.2712A>G c.12611A>G (p.Glu4204Gly) n.3854A>G c.12713A>G (p.Glu4238Gly) c.12710A>G (p.Glu4237Gly) c.12689A>G (p.Glu4230Gly) c.12683A>G (p.Glu4228Gly) c.12677A>G (p.Glu4226Gly) c.12653A>G (p.Glu4218Gly) c.12476A>G (p.Glu4159Gly) c.12620A>G (p.Glu4207Gly) c.12692A>G (p.Glu4231Gly) | |
| 1 | g.237784371A>T | CA345413855 | RYR2 | c.*3751A>T (n.*3751A>T) c.12647A>T (p.Glu4216Val) c.12680A>T (p.Glu4227Val) c.4836A>T c.12659A>T (p.Glu4220Val) c.2712A>T c.12611A>T (p.Glu4204Val) n.3854A>T c.12713A>T (p.Glu4238Val) c.12710A>T (p.Glu4237Val) c.12689A>T (p.Glu4230Val) c.12683A>T (p.Glu4228Val) c.12677A>T (p.Glu4226Val) c.12653A>T (p.Glu4218Val) c.12476A>T (p.Glu4159Val) c.12620A>T (p.Glu4207Val) c.12692A>T (p.Glu4231Val) | |
| 1 | g.237784372A= | CA2487482489 | RYR2 | c.*3752A= (n.*3752A=) c.12648A= (p.Glu4216=) c.12681A= (p.Glu4227=) c.4837A= c.12660A= (p.Glu4220=) c.2713A= c.12612A= (p.Glu4204=) n.3855A= c.12714A= (p.Glu4238=) c.12711A= (p.Glu4237=) c.12690A= (p.Glu4230=) c.12684A= (p.Glu4228=) c.12678A= (p.Glu4226=) c.12654A= (p.Glu4218=) c.12477A= (p.Glu4159=) c.12621A= (p.Glu4207=) c.12693A= (p.Glu4231=) | |
| 1 | g.237784372A>C | CA345413856 | RYR2 | c.*3752A>C (n.*3752A>C) c.12648A>C (p.Glu4216Asp) c.12681A>C (p.Glu4227Asp) c.4837A>C c.12660A>C (p.Glu4220Asp) c.2713A>C c.12612A>C (p.Glu4204Asp) n.3855A>C c.12714A>C (p.Glu4238Asp) c.12711A>C (p.Glu4237Asp) c.12690A>C (p.Glu4230Asp) c.12684A>C (p.Glu4228Asp) c.12678A>C (p.Glu4226Asp) c.12654A>C (p.Glu4218Asp) c.12477A>C (p.Glu4159Asp) c.12621A>C (p.Glu4207Asp) c.12693A>C (p.Glu4231Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784372A>G | CA424032146 | RYR2 | c.*3752A>G (n.*3752A>G) c.12648A>G (p.Glu4216=) c.12681A>G (p.Glu4227=) c.4837A>G c.12660A>G (p.Glu4220=) c.2713A>G c.12612A>G (p.Glu4204=) n.3855A>G c.12714A>G (p.Glu4238=) c.12711A>G (p.Glu4237=) c.12690A>G (p.Glu4230=) c.12684A>G (p.Glu4228=) c.12678A>G (p.Glu4226=) c.12654A>G (p.Glu4218=) c.12477A>G (p.Glu4159=) c.12621A>G (p.Glu4207=) c.12693A>G (p.Glu4231=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237784372A>T | CA345413857 | RYR2 | c.*3752A>T (n.*3752A>T) c.12648A>T (p.Glu4216Asp) c.12681A>T (p.Glu4227Asp) c.4837A>T c.12660A>T (p.Glu4220Asp) c.2713A>T c.12612A>T (p.Glu4204Asp) n.3855A>T c.12714A>T (p.Glu4238Asp) c.12711A>T (p.Glu4237Asp) c.12690A>T (p.Glu4230Asp) c.12684A>T (p.Glu4228Asp) c.12678A>T (p.Glu4226Asp) c.12654A>T (p.Glu4218Asp) c.12477A>T (p.Glu4159Asp) c.12621A>T (p.Glu4207Asp) c.12693A>T (p.Glu4231Asp) | |
| 1 | g.237784373A= | CA2487482490 | RYR2 | c.*3753A= (n.*3753A=) c.12649A= (p.Ser4217=) c.12682A= (p.Ser4228=) c.4838A= c.12661A= (p.Ser4221=) c.2714A= c.12613A= (p.Ser4205=) n.3856A= c.12715A= (p.Ser4239=) c.12712A= (p.Ser4238=) c.12691A= (p.Ser4231=) c.12685A= (p.Ser4229=) c.12679A= (p.Ser4227=) c.12655A= (p.Ser4219=) c.12478A= (p.Ser4160=) c.12622A= (p.Ser4208=) c.12694A= (p.Ser4232=) | |
| 1 | g.237784373A>C | CA345413859 | RYR2 | c.*3753A>C (n.*3753A>C) c.12649A>C (p.Ser4217Arg) c.12682A>C (p.Ser4228Arg) c.4838A>C c.12661A>C (p.Ser4221Arg) c.2714A>C c.12613A>C (p.Ser4205Arg) n.3856A>C c.12715A>C (p.Ser4239Arg) c.12712A>C (p.Ser4238Arg) c.12691A>C (p.Ser4231Arg) c.12685A>C (p.Ser4229Arg) c.12679A>C (p.Ser4227Arg) c.12655A>C (p.Ser4219Arg) c.12478A>C (p.Ser4160Arg) c.12622A>C (p.Ser4208Arg) c.12694A>C (p.Ser4232Arg) | |
| 1 | g.237784373A>G | CA085210 | RYR2 | c.*3753A>G (n.*3753A>G) c.12649A>G (p.Ser4217Gly) c.12682A>G (p.Ser4228Gly) c.4838A>G c.12661A>G (p.Ser4221Gly) c.2714A>G c.12613A>G (p.Ser4205Gly) n.3856A>G c.12715A>G (p.Ser4239Gly) c.12712A>G (p.Ser4238Gly) c.12691A>G (p.Ser4231Gly) c.12685A>G (p.Ser4229Gly) c.12679A>G (p.Ser4227Gly) c.12655A>G (p.Ser4219Gly) c.12478A>G (p.Ser4160Gly) c.12622A>G (p.Ser4208Gly) c.12694A>G (p.Ser4232Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237784373A>T | CA345413858 | RYR2 | c.*3753A>T (n.*3753A>T) c.12649A>T (p.Ser4217Cys) c.12682A>T (p.Ser4228Cys) c.4838A>T c.12661A>T (p.Ser4221Cys) c.2714A>T c.12613A>T (p.Ser4205Cys) n.3856A>T c.12715A>T (p.Ser4239Cys) c.12712A>T (p.Ser4238Cys) c.12691A>T (p.Ser4231Cys) c.12685A>T (p.Ser4229Cys) c.12679A>T (p.Ser4227Cys) c.12655A>T (p.Ser4219Cys) c.12478A>T (p.Ser4160Cys) c.12622A>T (p.Ser4208Cys) c.12694A>T (p.Ser4232Cys) | gnomAD v4 |
| 1 | g.237784374G>A | CA345413860 | RYR2 | c.*3754G>A (n.*3754G>A) c.12650G>A (p.Ser4217Asn) c.12683G>A (p.Ser4228Asn) c.4839G>A c.12662G>A (p.Ser4221Asn) c.2715G>A c.12614G>A (p.Ser4205Asn) n.3857G>A c.12716G>A (p.Ser4239Asn) c.12713G>A (p.Ser4238Asn) c.12692G>A (p.Ser4231Asn) c.12686G>A (p.Ser4229Asn) c.12680G>A (p.Ser4227Asn) c.12656G>A (p.Ser4219Asn) c.12479G>A (p.Ser4160Asn) c.12623G>A (p.Ser4208Asn) c.12695G>A (p.Ser4232Asn) | gnomAD v4 |
| 1 | g.237784374G>C | CA345413861 | RYR2 | c.*3754G>C (n.*3754G>C) c.12650G>C (p.Ser4217Thr) c.12683G>C (p.Ser4228Thr) c.4839G>C c.12662G>C (p.Ser4221Thr) c.2715G>C c.12614G>C (p.Ser4205Thr) n.3857G>C c.12716G>C (p.Ser4239Thr) c.12713G>C (p.Ser4238Thr) c.12692G>C (p.Ser4231Thr) c.12686G>C (p.Ser4229Thr) c.12680G>C (p.Ser4227Thr) c.12656G>C (p.Ser4219Thr) c.12479G>C (p.Ser4160Thr) c.12623G>C (p.Ser4208Thr) c.12695G>C (p.Ser4232Thr) | |
| 1 | g.237784374G>T | CA345413862 | RYR2 | c.*3754G>T (n.*3754G>T) c.12650G>T (p.Ser4217Ile) c.12683G>T (p.Ser4228Ile) c.4839G>T c.12662G>T (p.Ser4221Ile) c.2715G>T c.12614G>T (p.Ser4205Ile) n.3857G>T c.12716G>T (p.Ser4239Ile) c.12713G>T (p.Ser4238Ile) c.12692G>T (p.Ser4231Ile) c.12686G>T (p.Ser4229Ile) c.12680G>T (p.Ser4227Ile) c.12656G>T (p.Ser4219Ile) c.12479G>T (p.Ser4160Ile) c.12623G>T (p.Ser4208Ile) c.12695G>T (p.Ser4232Ile) | COSMIC COSMIC |
| 1 | g.237784375C>A | CA345413863 | RYR2 | c.*3755C>A (n.*3755C>A) c.12651C>A (p.Ser4217Arg) c.12684C>A (p.Ser4228Arg) c.4840C>A c.12663C>A (p.Ser4221Arg) c.2716C>A c.12615C>A (p.Ser4205Arg) n.3858C>A c.12717C>A (p.Ser4239Arg) c.12714C>A (p.Ser4238Arg) c.12693C>A (p.Ser4231Arg) c.12687C>A (p.Ser4229Arg) c.12681C>A (p.Ser4227Arg) c.12657C>A (p.Ser4219Arg) c.12480C>A (p.Ser4160Arg) c.12624C>A (p.Ser4208Arg) c.12696C>A (p.Ser4232Arg) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.237784375C= | CA1143720152 | RYR2 | c.*3755C= (n.*3755C=) c.12651C= (p.Ser4217=) c.12684C= (p.Ser4228=) c.4840C= c.12663C= (p.Ser4221=) c.2716C= c.12615C= (p.Ser4205=) n.3858C= c.12717C= (p.Ser4239=) c.12714C= (p.Ser4238=) c.12693C= (p.Ser4231=) c.12687C= (p.Ser4229=) c.12681C= (p.Ser4227=) c.12657C= (p.Ser4219=) c.12480C= (p.Ser4160=) c.12624C= (p.Ser4208=) c.12696C= (p.Ser4232=) | |
| 1 | g.237784375C>G | CA085211 | RYR2 | c.*3755C>G (n.*3755C>G) c.12651C>G (p.Ser4217Arg) c.12684C>G (p.Ser4228Arg) c.4840C>G c.12663C>G (p.Ser4221Arg) c.2716C>G c.12615C>G (p.Ser4205Arg) n.3858C>G c.12717C>G (p.Ser4239Arg) c.12714C>G (p.Ser4238Arg) c.12693C>G (p.Ser4231Arg) c.12687C>G (p.Ser4229Arg) c.12681C>G (p.Ser4227Arg) c.12657C>G (p.Ser4219Arg) c.12480C>G (p.Ser4160Arg) c.12624C>G (p.Ser4208Arg) c.12696C>G (p.Ser4232Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237784375C>T | CA085212 | RYR2 | c.*3755C>T (n.*3755C>T) c.12651C>T (p.Ser4217=) c.12684C>T (p.Ser4228=) c.4840C>T c.12663C>T (p.Ser4221=) c.2716C>T c.12615C>T (p.Ser4205=) n.3858C>T c.12717C>T (p.Ser4239=) c.12714C>T (p.Ser4238=) c.12693C>T (p.Ser4231=) c.12687C>T (p.Ser4229=) c.12681C>T (p.Ser4227=) c.12657C>T (p.Ser4219=) c.12480C>T (p.Ser4160=) c.12624C>T (p.Ser4208=) c.12696C>T (p.Ser4232=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237784376G>A | CA085213 | RYR2 | c.*3756G>A (n.*3756G>A) c.12652G>A (p.Glu4218Lys) c.12685G>A (p.Glu4229Lys) c.4841G>A c.12664G>A (p.Glu4222Lys) c.2717G>A c.12616G>A (p.Glu4206Lys) n.3859G>A c.12718G>A (p.Glu4240Lys) c.12715G>A (p.Glu4239Lys) c.12694G>A (p.Glu4232Lys) c.12688G>A (p.Glu4230Lys) c.12682G>A (p.Glu4228Lys) c.12658G>A (p.Glu4220Lys) c.12481G>A (p.Glu4161Lys) c.12625G>A (p.Glu4209Lys) c.12697G>A (p.Glu4233Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784376G>C | CA345413864 | RYR2 | c.*3756G>C (n.*3756G>C) c.12652G>C (p.Glu4218Gln) c.12685G>C (p.Glu4229Gln) c.4841G>C c.12664G>C (p.Glu4222Gln) c.2717G>C c.12616G>C (p.Glu4206Gln) n.3859G>C c.12718G>C (p.Glu4240Gln) c.12715G>C (p.Glu4239Gln) c.12694G>C (p.Glu4232Gln) c.12688G>C (p.Glu4230Gln) c.12682G>C (p.Glu4228Gln) c.12658G>C (p.Glu4220Gln) c.12481G>C (p.Glu4161Gln) c.12625G>C (p.Glu4209Gln) c.12697G>C (p.Glu4233Gln) | |
| 1 | g.237784376G= | CA2487482492 | RYR2 | c.*3756G= (n.*3756G=) c.12652G= (p.Glu4218=) c.12685G= (p.Glu4229=) c.4841G= c.12664G= (p.Glu4222=) c.2717G= c.12616G= (p.Glu4206=) n.3859G= c.12718G= (p.Glu4240=) c.12715G= (p.Glu4239=) c.12694G= (p.Glu4232=) c.12688G= (p.Glu4230=) c.12682G= (p.Glu4228=) c.12658G= (p.Glu4220=) c.12481G= (p.Glu4161=) c.12625G= (p.Glu4209=) c.12697G= (p.Glu4233=) | |
| 1 | g.237784376G>T | CA345413865 | RYR2 | c.*3756G>T (n.*3756G>T) c.12652G>T (p.Glu4218Ter) c.12685G>T (p.Glu4229Ter) c.4841G>T c.12664G>T (p.Glu4222Ter) c.2717G>T c.12616G>T (p.Glu4206Ter) n.3859G>T c.12718G>T (p.Glu4240Ter) c.12715G>T (p.Glu4239Ter) c.12694G>T (p.Glu4232Ter) c.12688G>T (p.Glu4230Ter) c.12682G>T (p.Glu4228Ter) c.12658G>T (p.Glu4220Ter) c.12481G>T (p.Glu4161Ter) c.12625G>T (p.Glu4209Ter) c.12697G>T (p.Glu4233Ter) | COSMIC COSMIC |
| 1 | g.237784376_237784379delinsGAGA | CA2487482491 | RYR2 | c.*3756_*3759delinsGAGA (n.*3756_*3759delinsGAGA) c.12652_12655delinsGAGA (p.Glu4218=) c.12685_12688delinsGAGA (p.Glu4229=) c.4841_4844delinsGAGA c.12664_12667delinsGAGA (p.Glu4222=) c.2717_2720delinsGAGA c.12616_12619delinsGAGA (p.Glu4206=) n.3859_3862delinsGAGA c.12718_12721delinsGAGA (p.Glu4240=) c.12715_12718delinsGAGA (p.Glu4239=) c.12694_12697delinsGAGA (p.Glu4232=) c.12688_12691delinsGAGA (p.Glu4230=) c.12682_12685delinsGAGA (p.Glu4228=) c.12658_12661delinsGAGA (p.Glu4220=) c.12481_12484delinsGAGA (p.Glu4161=) c.12625_12628delinsGAGA (p.Glu4209=) c.12697_12700delinsGAGA (p.Glu4233=) | |
| 1 | g.237784377A>C | CA345413866 | RYR2 | c.*3757A>C (n.*3757A>C) c.12653A>C (p.Glu4218Ala) c.12686A>C (p.Glu4229Ala) c.4842A>C c.12665A>C (p.Glu4222Ala) c.2718A>C c.12617A>C (p.Glu4206Ala) n.3860A>C c.12719A>C (p.Glu4240Ala) c.12716A>C (p.Glu4239Ala) c.12695A>C (p.Glu4232Ala) c.12689A>C (p.Glu4230Ala) c.12683A>C (p.Glu4228Ala) c.12659A>C (p.Glu4220Ala) c.12482A>C (p.Glu4161Ala) c.12626A>C (p.Glu4209Ala) c.12698A>C (p.Glu4233Ala) | |
| 1 | g.237784377A>G | CA345413867 | RYR2 | c.*3757A>G (n.*3757A>G) c.12653A>G (p.Glu4218Gly) c.12686A>G (p.Glu4229Gly) c.4842A>G c.12665A>G (p.Glu4222Gly) c.2718A>G c.12617A>G (p.Glu4206Gly) n.3860A>G c.12719A>G (p.Glu4240Gly) c.12716A>G (p.Glu4239Gly) c.12695A>G (p.Glu4232Gly) c.12689A>G (p.Glu4230Gly) c.12683A>G (p.Glu4228Gly) c.12659A>G (p.Glu4220Gly) c.12482A>G (p.Glu4161Gly) c.12626A>G (p.Glu4209Gly) c.12698A>G (p.Glu4233Gly) | gnomAD v4 |
| 1 | g.237784377A>T | CA345413868 | RYR2 | c.*3757A>T (n.*3757A>T) c.12653A>T (p.Glu4218Val) c.12686A>T (p.Glu4229Val) c.4842A>T c.12665A>T (p.Glu4222Val) c.2718A>T c.12617A>T (p.Glu4206Val) n.3860A>T c.12719A>T (p.Glu4240Val) c.12716A>T (p.Glu4239Val) c.12695A>T (p.Glu4232Val) c.12689A>T (p.Glu4230Val) c.12683A>T (p.Glu4228Val) c.12659A>T (p.Glu4220Val) c.12482A>T (p.Glu4161Val) c.12626A>T (p.Glu4209Val) c.12698A>T (p.Glu4233Val) | COSMIC COSMIC |
| 1 | g.237784379_237784381del | CA007668 | RYR2 | c.*3759_*3761del (n.*3759_*3761del) c.12655_12657del (p.Lys4219del) c.12688_12690del (p.Lys4230del) c.4844_4846del c.12667_12669del (p.Lys4223del) c.2720_2722del c.12619_12621del (p.Lys4207del) n.3862_3864del c.12721_12723del (p.Lys4241del) c.12718_12720del (p.Lys4240del) c.12697_12699del (p.Lys4233del) c.12691_12693del (p.Lys4231del) c.12685_12687del (p.Lys4229del) c.12661_12663del (p.Lys4221del) c.12484_12486del (p.Lys4162del) c.12628_12630del (p.Lys4210del) c.12700_12702del (p.Lys4234del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784378G>A | CA424032157 | RYR2 | c.*3758G>A (n.*3758G>A) c.12654G>A (p.Glu4218=) c.12687G>A (p.Glu4229=) c.4843G>A c.12666G>A (p.Glu4222=) c.2719G>A c.12618G>A (p.Glu4206=) n.3861G>A c.12720G>A (p.Glu4240=) c.12717G>A (p.Glu4239=) c.12696G>A (p.Glu4232=) c.12690G>A (p.Glu4230=) c.12684G>A (p.Glu4228=) c.12660G>A (p.Glu4220=) c.12483G>A (p.Glu4161=) c.12627G>A (p.Glu4209=) c.12699G>A (p.Glu4233=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237784378G>C | CA345413870 | RYR2 | c.*3758G>C (n.*3758G>C) c.12654G>C (p.Glu4218Asp) c.12687G>C (p.Glu4229Asp) c.4843G>C c.12666G>C (p.Glu4222Asp) c.2719G>C c.12618G>C (p.Glu4206Asp) n.3861G>C c.12720G>C (p.Glu4240Asp) c.12717G>C (p.Glu4239Asp) c.12696G>C (p.Glu4232Asp) c.12690G>C (p.Glu4230Asp) c.12684G>C (p.Glu4228Asp) c.12660G>C (p.Glu4220Asp) c.12483G>C (p.Glu4161Asp) c.12627G>C (p.Glu4209Asp) c.12699G>C (p.Glu4233Asp) | |
| 1 | g.237784378G= | CA2487482493 | RYR2 | c.*3758G= (n.*3758G=) c.12654G= (p.Glu4218=) c.12687G= (p.Glu4229=) c.4843G= c.12666G= (p.Glu4222=) c.2719G= c.12618G= (p.Glu4206=) n.3861G= c.12720G= (p.Glu4240=) c.12717G= (p.Glu4239=) c.12696G= (p.Glu4232=) c.12690G= (p.Glu4230=) c.12684G= (p.Glu4228=) c.12660G= (p.Glu4220=) c.12483G= (p.Glu4161=) c.12627G= (p.Glu4209=) c.12699G= (p.Glu4233=) | |
| 1 | g.237784378G>T | CA345413869 | RYR2 | c.*3758G>T (n.*3758G>T) c.12654G>T (p.Glu4218Asp) c.12687G>T (p.Glu4229Asp) c.4843G>T c.12666G>T (p.Glu4222Asp) c.2719G>T c.12618G>T (p.Glu4206Asp) n.3861G>T c.12720G>T (p.Glu4240Asp) c.12717G>T (p.Glu4239Asp) c.12696G>T (p.Glu4232Asp) c.12690G>T (p.Glu4230Asp) c.12684G>T (p.Glu4228Asp) c.12660G>T (p.Glu4220Asp) c.12483G>T (p.Glu4161Asp) c.12627G>T (p.Glu4209Asp) c.12699G>T (p.Glu4233Asp) | |
| 1 | g.237784379A= | CA2487482494 | RYR2 | c.*3759A= (n.*3759A=) c.12655A= (p.Lys4219=) c.12688A= (p.Lys4230=) c.4844A= c.12667A= (p.Lys4223=) c.2720A= c.12619A= (p.Lys4207=) n.3862A= c.12721A= (p.Lys4241=) c.12718A= (p.Lys4240=) c.12697A= (p.Lys4233=) c.12691A= (p.Lys4231=) c.12685A= (p.Lys4229=) c.12661A= (p.Lys4221=) c.12484A= (p.Lys4162=) c.12628A= (p.Lys4210=) c.12700A= (p.Lys4234=) | |
| 1 | g.237784379A>C | CA345413871 | RYR2 | c.*3759A>C (n.*3759A>C) c.12655A>C (p.Lys4219Gln) c.12688A>C (p.Lys4230Gln) c.4844A>C c.12667A>C (p.Lys4223Gln) c.2720A>C c.12619A>C (p.Lys4207Gln) n.3862A>C c.12721A>C (p.Lys4241Gln) c.12718A>C (p.Lys4240Gln) c.12697A>C (p.Lys4233Gln) c.12691A>C (p.Lys4231Gln) c.12685A>C (p.Lys4229Gln) c.12661A>C (p.Lys4221Gln) c.12484A>C (p.Lys4162Gln) c.12628A>C (p.Lys4210Gln) c.12700A>C (p.Lys4234Gln) | gnomAD v4 |
| 1 | g.237784379A>G | CA345413872 | RYR2 | c.*3759A>G (n.*3759A>G) c.12655A>G (p.Lys4219Glu) c.12688A>G (p.Lys4230Glu) c.4844A>G c.12667A>G (p.Lys4223Glu) c.2720A>G c.12619A>G (p.Lys4207Glu) n.3862A>G c.12721A>G (p.Lys4241Glu) c.12718A>G (p.Lys4240Glu) c.12697A>G (p.Lys4233Glu) c.12691A>G (p.Lys4231Glu) c.12685A>G (p.Lys4229Glu) c.12661A>G (p.Lys4221Glu) c.12484A>G (p.Lys4162Glu) c.12628A>G (p.Lys4210Glu) c.12700A>G (p.Lys4234Glu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237784379A>T | CA345413873 | RYR2 | c.*3759A>T (n.*3759A>T) c.12655A>T (p.Lys4219Ter) c.12688A>T (p.Lys4230Ter) c.4844A>T c.12667A>T (p.Lys4223Ter) c.2720A>T c.12619A>T (p.Lys4207Ter) n.3862A>T c.12721A>T (p.Lys4241Ter) c.12718A>T (p.Lys4240Ter) c.12697A>T (p.Lys4233Ter) c.12691A>T (p.Lys4231Ter) c.12685A>T (p.Lys4229Ter) c.12661A>T (p.Lys4221Ter) c.12484A>T (p.Lys4162Ter) c.12628A>T (p.Lys4210Ter) c.12700A>T (p.Lys4234Ter) | |
| 1 | g.237784380A>C | CA345413874 | RYR2 | c.*3760A>C (n.*3760A>C) c.12656A>C (p.Lys4219Thr) c.12689A>C (p.Lys4230Thr) c.4845A>C c.12668A>C (p.Lys4223Thr) c.2721A>C c.12620A>C (p.Lys4207Thr) n.3863A>C c.12722A>C (p.Lys4241Thr) c.12719A>C (p.Lys4240Thr) c.12698A>C (p.Lys4233Thr) c.12692A>C (p.Lys4231Thr) c.12686A>C (p.Lys4229Thr) c.12662A>C (p.Lys4221Thr) c.12485A>C (p.Lys4162Thr) c.12629A>C (p.Lys4210Thr) c.12701A>C (p.Lys4234Thr) | |
| 1 | g.237784380A>G | CA345413875 | RYR2 | c.*3760A>G (n.*3760A>G) c.12656A>G (p.Lys4219Arg) c.12689A>G (p.Lys4230Arg) c.4845A>G c.12668A>G (p.Lys4223Arg) c.2721A>G c.12620A>G (p.Lys4207Arg) n.3863A>G c.12722A>G (p.Lys4241Arg) c.12719A>G (p.Lys4240Arg) c.12698A>G (p.Lys4233Arg) c.12692A>G (p.Lys4231Arg) c.12686A>G (p.Lys4229Arg) c.12662A>G (p.Lys4221Arg) c.12485A>G (p.Lys4162Arg) c.12629A>G (p.Lys4210Arg) c.12701A>G (p.Lys4234Arg) | |
| 1 | g.237784380A>T | CA345413876 | RYR2 | c.*3760A>T (n.*3760A>T) c.12656A>T (p.Lys4219Met) c.12689A>T (p.Lys4230Met) c.4845A>T c.12668A>T (p.Lys4223Met) c.2721A>T c.12620A>T (p.Lys4207Met) n.3863A>T c.12722A>T (p.Lys4241Met) c.12719A>T (p.Lys4240Met) c.12698A>T (p.Lys4233Met) c.12692A>T (p.Lys4231Met) c.12686A>T (p.Lys4229Met) c.12662A>T (p.Lys4221Met) c.12485A>T (p.Lys4162Met) c.12629A>T (p.Lys4210Met) c.12701A>T (p.Lys4234Met) | |
| 1 | g.237784381G>A | CA085215 | RYR2 | c.*3761G>A (n.*3761G>A) c.12657G>A (p.Lys4219=) c.12690G>A (p.Lys4230=) c.4846G>A c.12669G>A (p.Lys4223=) c.2722G>A c.12621G>A (p.Lys4207=) n.3864G>A c.12723G>A (p.Lys4241=) c.12720G>A (p.Lys4240=) c.12699G>A (p.Lys4233=) c.12693G>A (p.Lys4231=) c.12687G>A (p.Lys4229=) c.12663G>A (p.Lys4221=) c.12486G>A (p.Lys4162=) c.12630G>A (p.Lys4210=) c.12702G>A (p.Lys4234=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784381G>C | CA345413877 | RYR2 | c.*3761G>C (n.*3761G>C) c.12657G>C (p.Lys4219Asn) c.12690G>C (p.Lys4230Asn) c.4846G>C c.12669G>C (p.Lys4223Asn) c.2722G>C c.12621G>C (p.Lys4207Asn) n.3864G>C c.12723G>C (p.Lys4241Asn) c.12720G>C (p.Lys4240Asn) c.12699G>C (p.Lys4233Asn) c.12693G>C (p.Lys4231Asn) c.12687G>C (p.Lys4229Asn) c.12663G>C (p.Lys4221Asn) c.12486G>C (p.Lys4162Asn) c.12630G>C (p.Lys4210Asn) c.12702G>C (p.Lys4234Asn) | gnomAD v4 |
| 1 | g.237784381G= | CA1142206630 | RYR2 | c.*3761G= (n.*3761G=) c.12657G= (p.Lys4219=) c.12690G= (p.Lys4230=) c.4846G= c.12669G= (p.Lys4223=) c.2722G= c.12621G= (p.Lys4207=) n.3864G= c.12723G= (p.Lys4241=) c.12720G= (p.Lys4240=) c.12699G= (p.Lys4233=) c.12693G= (p.Lys4231=) c.12687G= (p.Lys4229=) c.12663G= (p.Lys4221=) c.12486G= (p.Lys4162=) c.12630G= (p.Lys4210=) c.12702G= (p.Lys4234=) | |
| 1 | g.237784381G>T | CA345413878 | RYR2 | c.*3761G>T (n.*3761G>T) c.12657G>T (p.Lys4219Asn) c.12690G>T (p.Lys4230Asn) c.4846G>T c.12669G>T (p.Lys4223Asn) c.2722G>T c.12621G>T (p.Lys4207Asn) n.3864G>T c.12723G>T (p.Lys4241Asn) c.12720G>T (p.Lys4240Asn) c.12699G>T (p.Lys4233Asn) c.12693G>T (p.Lys4231Asn) c.12687G>T (p.Lys4229Asn) c.12663G>T (p.Lys4221Asn) c.12486G>T (p.Lys4162Asn) c.12630G>T (p.Lys4210Asn) c.12702G>T (p.Lys4234Asn) | dbSNP |
| 1 | g.237784382G>A | CA345413879 | RYR2 | c.*3762G>A (n.*3762G>A) c.12658G>A (p.Glu4220Lys) c.12691G>A (p.Glu4231Lys) c.4847G>A c.12670G>A (p.Glu4224Lys) c.2723G>A c.12622G>A (p.Glu4208Lys) n.3865G>A c.12724G>A (p.Glu4242Lys) c.12721G>A (p.Glu4241Lys) c.12700G>A (p.Glu4234Lys) c.12694G>A (p.Glu4232Lys) c.12688G>A (p.Glu4230Lys) c.12664G>A (p.Glu4222Lys) c.12487G>A (p.Glu4163Lys) c.12631G>A (p.Glu4211Lys) c.12703G>A (p.Glu4235Lys) | COSMIC COSMIC |
| 1 | g.237784382G>C | CA345413880 | RYR2 | c.*3762G>C (n.*3762G>C) c.12658G>C (p.Glu4220Gln) c.12691G>C (p.Glu4231Gln) c.4847G>C c.12670G>C (p.Glu4224Gln) c.2723G>C c.12622G>C (p.Glu4208Gln) n.3865G>C c.12724G>C (p.Glu4242Gln) c.12721G>C (p.Glu4241Gln) c.12700G>C (p.Glu4234Gln) c.12694G>C (p.Glu4232Gln) c.12688G>C (p.Glu4230Gln) c.12664G>C (p.Glu4222Gln) c.12487G>C (p.Glu4163Gln) c.12631G>C (p.Glu4211Gln) c.12703G>C (p.Glu4235Gln) | |
| 1 | g.237784382G>T | CA345413881 | RYR2 | c.*3762G>T (n.*3762G>T) c.12658G>T (p.Glu4220Ter) c.12691G>T (p.Glu4231Ter) c.4847G>T c.12670G>T (p.Glu4224Ter) c.2723G>T c.12622G>T (p.Glu4208Ter) n.3865G>T c.12724G>T (p.Glu4242Ter) c.12721G>T (p.Glu4241Ter) c.12700G>T (p.Glu4234Ter) c.12694G>T (p.Glu4232Ter) c.12688G>T (p.Glu4230Ter) c.12664G>T (p.Glu4222Ter) c.12487G>T (p.Glu4163Ter) c.12631G>T (p.Glu4211Ter) c.12703G>T (p.Glu4235Ter) | |
| 1 | g.237784383A>C | CA345413884 | RYR2 | c.*3763A>C (n.*3763A>C) c.12659A>C (p.Glu4220Ala) c.12692A>C (p.Glu4231Ala) c.4848A>C c.12671A>C (p.Glu4224Ala) c.2724A>C c.12623A>C (p.Glu4208Ala) n.3866A>C c.12725A>C (p.Glu4242Ala) c.12722A>C (p.Glu4241Ala) c.12701A>C (p.Glu4234Ala) c.12695A>C (p.Glu4232Ala) c.12689A>C (p.Glu4230Ala) c.12665A>C (p.Glu4222Ala) c.12488A>C (p.Glu4163Ala) c.12632A>C (p.Glu4211Ala) c.12704A>C (p.Glu4235Ala) | gnomAD v4 |
| 1 | g.237784383A>G | CA345413883 | RYR2 | c.*3763A>G (n.*3763A>G) c.12659A>G (p.Glu4220Gly) c.12692A>G (p.Glu4231Gly) c.4848A>G c.12671A>G (p.Glu4224Gly) c.2724A>G c.12623A>G (p.Glu4208Gly) n.3866A>G c.12725A>G (p.Glu4242Gly) c.12722A>G (p.Glu4241Gly) c.12701A>G (p.Glu4234Gly) c.12695A>G (p.Glu4232Gly) c.12689A>G (p.Glu4230Gly) c.12665A>G (p.Glu4222Gly) c.12488A>G (p.Glu4163Gly) c.12632A>G (p.Glu4211Gly) c.12704A>G (p.Glu4235Gly) | |
| 1 | g.237784383A>T | CA345413882 | RYR2 | c.*3763A>T (n.*3763A>T) c.12659A>T (p.Glu4220Val) c.12692A>T (p.Glu4231Val) c.4848A>T c.12671A>T (p.Glu4224Val) c.2724A>T c.12623A>T (p.Glu4208Val) n.3866A>T c.12725A>T (p.Glu4242Val) c.12722A>T (p.Glu4241Val) c.12701A>T (p.Glu4234Val) c.12695A>T (p.Glu4232Val) c.12689A>T (p.Glu4230Val) c.12665A>T (p.Glu4222Val) c.12488A>T (p.Glu4163Val) c.12632A>T (p.Glu4211Val) c.12704A>T (p.Glu4235Val) |