| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |