UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237784281T>A | CA345413647 | RYR2 | c.*3661T>A (n.*3661T>A) c.12557T>A (p.Val4186Glu) c.12590T>A (p.Val4197Glu) c.4746T>A c.12569T>A (p.Val4190Glu) c.2622T>A c.12521T>A (p.Val4174Glu) n.3764T>A c.12623T>A (p.Val4208Glu) c.12620T>A (p.Val4207Glu) c.12599T>A (p.Val4200Glu) c.12593T>A (p.Val4198Glu) c.12587T>A (p.Val4196Glu) c.12563T>A (p.Val4188Glu) c.12386T>A (p.Val4129Glu) c.12530T>A (p.Val4177Glu) c.12602T>A (p.Val4201Glu) | ClinVar dbSNP |
| 1 | g.237784281T>C | CA345413648 | RYR2 | c.*3661T>C (n.*3661T>C) c.12557T>C (p.Val4186Ala) c.12590T>C (p.Val4197Ala) c.4746T>C c.12569T>C (p.Val4190Ala) c.2622T>C c.12521T>C (p.Val4174Ala) n.3764T>C c.12623T>C (p.Val4208Ala) c.12620T>C (p.Val4207Ala) c.12599T>C (p.Val4200Ala) c.12593T>C (p.Val4198Ala) c.12587T>C (p.Val4196Ala) c.12563T>C (p.Val4188Ala) c.12386T>C (p.Val4129Ala) c.12530T>C (p.Val4177Ala) c.12602T>C (p.Val4201Ala) | |
| 1 | g.237784281T>G | CA16617110 | RYR2 | c.*3661T>G (n.*3661T>G) c.12557T>G (p.Val4186Gly) c.12590T>G (p.Val4197Gly) c.4746T>G c.12569T>G (p.Val4190Gly) c.2622T>G c.12521T>G (p.Val4174Gly) n.3764T>G c.12623T>G (p.Val4208Gly) c.12620T>G (p.Val4207Gly) c.12599T>G (p.Val4200Gly) c.12593T>G (p.Val4198Gly) c.12587T>G (p.Val4196Gly) c.12563T>G (p.Val4188Gly) c.12386T>G (p.Val4129Gly) c.12530T>G (p.Val4177Gly) c.12602T>G (p.Val4201Gly) | ClinVar dbSNP |
| 1 | g.237784281T= | CA2487482464 | RYR2 | c.*3661T= (n.*3661T=) c.12557T= (p.Val4186=) c.12590T= (p.Val4197=) c.4746T= c.12569T= (p.Val4190=) c.2622T= c.12521T= (p.Val4174=) n.3764T= c.12623T= (p.Val4208=) c.12620T= (p.Val4207=) c.12599T= (p.Val4200=) c.12593T= (p.Val4198=) c.12587T= (p.Val4196=) c.12563T= (p.Val4188=) c.12386T= (p.Val4129=) c.12530T= (p.Val4177=) c.12602T= (p.Val4201=) | |
| 1 | g.237784282G>A | CA424032326 | RYR2 | c.*3662G>A (n.*3662G>A) c.12558G>A (p.Val4186=) c.12591G>A (p.Val4197=) c.4747G>A c.12570G>A (p.Val4190=) c.2623G>A c.12522G>A (p.Val4174=) n.3765G>A c.12624G>A (p.Val4208=) c.12621G>A (p.Val4207=) c.12600G>A (p.Val4200=) c.12594G>A (p.Val4198=) c.12588G>A (p.Val4196=) c.12564G>A (p.Val4188=) c.12387G>A (p.Val4129=) c.12531G>A (p.Val4177=) c.12603G>A (p.Val4201=) | COSMIC COSMIC |
| 1 | g.237784282G>C | CA424032327 | RYR2 | c.*3662G>C (n.*3662G>C) c.12558G>C (p.Val4186=) c.12591G>C (p.Val4197=) c.4747G>C c.12570G>C (p.Val4190=) c.2623G>C c.12522G>C (p.Val4174=) n.3765G>C c.12624G>C (p.Val4208=) c.12621G>C (p.Val4207=) c.12600G>C (p.Val4200=) c.12594G>C (p.Val4198=) c.12588G>C (p.Val4196=) c.12564G>C (p.Val4188=) c.12387G>C (p.Val4129=) c.12531G>C (p.Val4177=) c.12603G>C (p.Val4201=) | |
| 1 | g.237784282G>T | CA424032328 | RYR2 | c.*3662G>T (n.*3662G>T) c.12558G>T (p.Val4186=) c.12591G>T (p.Val4197=) c.4747G>T c.12570G>T (p.Val4190=) c.2623G>T c.12522G>T (p.Val4174=) n.3765G>T c.12624G>T (p.Val4208=) c.12621G>T (p.Val4207=) c.12600G>T (p.Val4200=) c.12594G>T (p.Val4198=) c.12588G>T (p.Val4196=) c.12564G>T (p.Val4188=) c.12387G>T (p.Val4129=) c.12531G>T (p.Val4177=) c.12603G>T (p.Val4201=) | |
| 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) |