| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237784170G>A | CA345413342 | RYR2 | c.*3550G>A (n.*3550G>A) c.12446G>A (p.Ser4149Asn) c.12479G>A (p.Ser4160Asn) c.4635G>A c.12458G>A (p.Ser4153Asn) c.2511G>A c.12410G>A (p.Ser4137Asn) n.3653G>A c.12512G>A (p.Ser4171Asn) c.12509G>A (p.Ser4170Asn) c.12488G>A (p.Ser4163Asn) c.12482G>A (p.Ser4161Asn) c.12476G>A (p.Ser4159Asn) c.12452G>A (p.Ser4151Asn) c.12275G>A (p.Ser4092Asn) c.12419G>A (p.Ser4140Asn) c.12491G>A (p.Ser4164Asn) | dbSNP COSMIC COSMIC |
| 1 | g.237784170G>C | CA39827643 | RYR2 | c.*3550G>C (n.*3550G>C) c.12446G>C (p.Ser4149Thr) c.12479G>C (p.Ser4160Thr) c.4635G>C c.12458G>C (p.Ser4153Thr) c.2511G>C c.12410G>C (p.Ser4137Thr) n.3653G>C c.12512G>C (p.Ser4171Thr) c.12509G>C (p.Ser4170Thr) c.12488G>C (p.Ser4163Thr) c.12482G>C (p.Ser4161Thr) c.12476G>C (p.Ser4159Thr) c.12452G>C (p.Ser4151Thr) c.12275G>C (p.Ser4092Thr) c.12419G>C (p.Ser4140Thr) c.12491G>C (p.Ser4164Thr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237784170G= | CA2487482413 | RYR2 | c.*3550G= (n.*3550G=) c.12446G= (p.Ser4149=) c.12479G= (p.Ser4160=) c.4635G= c.12458G= (p.Ser4153=) c.2511G= c.12410G= (p.Ser4137=) n.3653G= c.12512G= (p.Ser4171=) c.12509G= (p.Ser4170=) c.12488G= (p.Ser4163=) c.12482G= (p.Ser4161=) c.12476G= (p.Ser4159=) c.12452G= (p.Ser4151=) c.12275G= (p.Ser4092=) c.12419G= (p.Ser4140=) c.12491G= (p.Ser4164=) | |
| 1 | g.237784170G>T | CA345413339 | RYR2 | c.*3550G>T (n.*3550G>T) c.12446G>T (p.Ser4149Ile) c.12479G>T (p.Ser4160Ile) c.4635G>T c.12458G>T (p.Ser4153Ile) c.2511G>T c.12410G>T (p.Ser4137Ile) n.3653G>T c.12512G>T (p.Ser4171Ile) c.12509G>T (p.Ser4170Ile) c.12488G>T (p.Ser4163Ile) c.12482G>T (p.Ser4161Ile) c.12476G>T (p.Ser4159Ile) c.12452G>T (p.Ser4151Ile) c.12275G>T (p.Ser4092Ile) c.12419G>T (p.Ser4140Ile) c.12491G>T (p.Ser4164Ile) | ClinVar dbSNP COSMIC |
| 1 | g.237784171T>A | CA345413344 | RYR2 | c.*3551T>A (n.*3551T>A) c.12447T>A (p.Ser4149Arg) c.12480T>A (p.Ser4160Arg) c.4636T>A c.12459T>A (p.Ser4153Arg) c.2512T>A c.12411T>A (p.Ser4137Arg) n.3654T>A c.12513T>A (p.Ser4171Arg) c.12510T>A (p.Ser4170Arg) c.12489T>A (p.Ser4163Arg) c.12483T>A (p.Ser4161Arg) c.12477T>A (p.Ser4159Arg) c.12453T>A (p.Ser4151Arg) c.12276T>A (p.Ser4092Arg) c.12420T>A (p.Ser4140Arg) c.12492T>A (p.Ser4164Arg) | |
| 1 | g.237784171T>C | CA424032213 | RYR2 | c.*3551T>C (n.*3551T>C) c.12447T>C (p.Ser4149=) c.12480T>C (p.Ser4160=) c.4636T>C c.12459T>C (p.Ser4153=) c.2512T>C c.12411T>C (p.Ser4137=) n.3654T>C c.12513T>C (p.Ser4171=) c.12510T>C (p.Ser4170=) c.12489T>C (p.Ser4163=) c.12483T>C (p.Ser4161=) c.12477T>C (p.Ser4159=) c.12453T>C (p.Ser4151=) c.12276T>C (p.Ser4092=) c.12420T>C (p.Ser4140=) c.12492T>C (p.Ser4164=) | |
| 1 | g.237784171T>G | CA345413345 | RYR2 | c.*3551T>G (n.*3551T>G) c.12447T>G (p.Ser4149Arg) c.12480T>G (p.Ser4160Arg) c.4636T>G c.12459T>G (p.Ser4153Arg) c.2512T>G c.12411T>G (p.Ser4137Arg) n.3654T>G c.12513T>G (p.Ser4171Arg) c.12510T>G (p.Ser4170Arg) c.12489T>G (p.Ser4163Arg) c.12483T>G (p.Ser4161Arg) c.12477T>G (p.Ser4159Arg) c.12453T>G (p.Ser4151Arg) c.12276T>G (p.Ser4092Arg) c.12420T>G (p.Ser4140Arg) c.12492T>G (p.Ser4164Arg) | |
| 1 | g.237784172G>A | CA345413347 | RYR2 | c.*3552G>A (n.*3552G>A) c.12448G>A (p.Glu4150Lys) c.12481G>A (p.Glu4161Lys) c.4637G>A c.12460G>A (p.Glu4154Lys) c.2513G>A c.12412G>A (p.Glu4138Lys) n.3655G>A c.12514G>A (p.Glu4172Lys) c.12511G>A (p.Glu4171Lys) c.12490G>A (p.Glu4164Lys) c.12484G>A (p.Glu4162Lys) c.12478G>A (p.Glu4160Lys) c.12454G>A (p.Glu4152Lys) c.12277G>A (p.Glu4093Lys) c.12421G>A (p.Glu4141Lys) c.12493G>A (p.Glu4165Lys) | |
| 1 | g.237784172G>C | CA345413350 | RYR2 | c.*3552G>C (n.*3552G>C) c.12448G>C (p.Glu4150Gln) c.12481G>C (p.Glu4161Gln) c.4637G>C c.12460G>C (p.Glu4154Gln) c.2513G>C c.12412G>C (p.Glu4138Gln) n.3655G>C c.12514G>C (p.Glu4172Gln) c.12511G>C (p.Glu4171Gln) c.12490G>C (p.Glu4164Gln) c.12484G>C (p.Glu4162Gln) c.12478G>C (p.Glu4160Gln) c.12454G>C (p.Glu4152Gln) c.12277G>C (p.Glu4093Gln) c.12421G>C (p.Glu4141Gln) c.12493G>C (p.Glu4165Gln) | |
| 1 | g.237784172G>T | CA345413351 | RYR2 | c.*3552G>T (n.*3552G>T) c.12448G>T (p.Glu4150Ter) c.12481G>T (p.Glu4161Ter) c.4637G>T c.12460G>T (p.Glu4154Ter) c.2513G>T c.12412G>T (p.Glu4138Ter) n.3655G>T c.12514G>T (p.Glu4172Ter) c.12511G>T (p.Glu4171Ter) c.12490G>T (p.Glu4164Ter) c.12484G>T (p.Glu4162Ter) c.12478G>T (p.Glu4160Ter) c.12454G>T (p.Glu4152Ter) c.12277G>T (p.Glu4093Ter) c.12421G>T (p.Glu4141Ter) c.12493G>T (p.Glu4165Ter) | |
| 1 | g.237784173A>C | CA345413361 | RYR2 | c.*3553A>C (n.*3553A>C) c.12449A>C (p.Glu4150Ala) c.12482A>C (p.Glu4161Ala) c.4638A>C c.12461A>C (p.Glu4154Ala) c.2514A>C c.12413A>C (p.Glu4138Ala) n.3656A>C c.12515A>C (p.Glu4172Ala) c.12512A>C (p.Glu4171Ala) c.12491A>C (p.Glu4164Ala) c.12485A>C (p.Glu4162Ala) c.12479A>C (p.Glu4160Ala) c.12455A>C (p.Glu4152Ala) c.12278A>C (p.Glu4093Ala) c.12422A>C (p.Glu4141Ala) c.12494A>C (p.Glu4165Ala) | |
| 1 | g.237784173A>G | CA345413357 | RYR2 | c.*3553A>G (n.*3553A>G) c.12449A>G (p.Glu4150Gly) c.12482A>G (p.Glu4161Gly) c.4638A>G c.12461A>G (p.Glu4154Gly) c.2514A>G c.12413A>G (p.Glu4138Gly) n.3656A>G c.12515A>G (p.Glu4172Gly) c.12512A>G (p.Glu4171Gly) c.12491A>G (p.Glu4164Gly) c.12485A>G (p.Glu4162Gly) c.12479A>G (p.Glu4160Gly) c.12455A>G (p.Glu4152Gly) c.12278A>G (p.Glu4093Gly) c.12422A>G (p.Glu4141Gly) c.12494A>G (p.Glu4165Gly) | |
| 1 | g.237784173A>T | CA345413355 | RYR2 | c.*3553A>T (n.*3553A>T) c.12449A>T (p.Glu4150Val) c.12482A>T (p.Glu4161Val) c.4638A>T c.12461A>T (p.Glu4154Val) c.2514A>T c.12413A>T (p.Glu4138Val) n.3656A>T c.12515A>T (p.Glu4172Val) c.12512A>T (p.Glu4171Val) c.12491A>T (p.Glu4164Val) c.12485A>T (p.Glu4162Val) c.12479A>T (p.Glu4160Val) c.12455A>T (p.Glu4152Val) c.12278A>T (p.Glu4093Val) c.12422A>T (p.Glu4141Val) c.12494A>T (p.Glu4165Val) | |
| 1 | g.237784174G>A | CA085185 | RYR2 | c.*3554G>A (n.*3554G>A) c.12450G>A (p.Glu4150=) c.12483G>A (p.Glu4161=) c.4639G>A c.12462G>A (p.Glu4154=) c.2515G>A c.12414G>A (p.Glu4138=) n.3657G>A c.12516G>A (p.Glu4172=) c.12513G>A (p.Glu4171=) c.12492G>A (p.Glu4164=) c.12486G>A (p.Glu4162=) c.12480G>A (p.Glu4160=) c.12456G>A (p.Glu4152=) c.12279G>A (p.Glu4093=) c.12423G>A (p.Glu4141=) c.12495G>A (p.Glu4165=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237784174G>C | CA345413364 | RYR2 | c.*3554G>C (n.*3554G>C) c.12450G>C (p.Glu4150Asp) c.12483G>C (p.Glu4161Asp) c.4639G>C c.12462G>C (p.Glu4154Asp) c.2515G>C c.12414G>C (p.Glu4138Asp) n.3657G>C c.12516G>C (p.Glu4172Asp) c.12513G>C (p.Glu4171Asp) c.12492G>C (p.Glu4164Asp) c.12486G>C (p.Glu4162Asp) c.12480G>C (p.Glu4160Asp) c.12456G>C (p.Glu4152Asp) c.12279G>C (p.Glu4093Asp) c.12423G>C (p.Glu4141Asp) c.12495G>C (p.Glu4165Asp) | |
| 1 | g.237784174G= | CA2487482414 | RYR2 | c.*3554G= (n.*3554G=) c.12450G= (p.Glu4150=) c.12483G= (p.Glu4161=) c.4639G= c.12462G= (p.Glu4154=) c.2515G= c.12414G= (p.Glu4138=) n.3657G= c.12516G= (p.Glu4172=) c.12513G= (p.Glu4171=) c.12492G= (p.Glu4164=) c.12486G= (p.Glu4162=) c.12480G= (p.Glu4160=) c.12456G= (p.Glu4152=) c.12279G= (p.Glu4093=) c.12423G= (p.Glu4141=) c.12495G= (p.Glu4165=) | |
| 1 | g.237784174G>T | CA345413365 | RYR2 | c.*3554G>T (n.*3554G>T) c.12450G>T (p.Glu4150Asp) c.12483G>T (p.Glu4161Asp) c.4639G>T c.12462G>T (p.Glu4154Asp) c.2515G>T c.12414G>T (p.Glu4138Asp) n.3657G>T c.12516G>T (p.Glu4172Asp) c.12513G>T (p.Glu4171Asp) c.12492G>T (p.Glu4164Asp) c.12486G>T (p.Glu4162Asp) c.12480G>T (p.Glu4160Asp) c.12456G>T (p.Glu4152Asp) c.12279G>T (p.Glu4093Asp) c.12423G>T (p.Glu4141Asp) c.12495G>T (p.Glu4165Asp) | |
| 1 | g.237784175T>A | CA16610026 | RYR2 | c.*3555T>A (n.*3555T>A) c.12451T>A (p.Ser4151Thr) c.12484T>A (p.Ser4162Thr) c.4640T>A c.12463T>A (p.Ser4155Thr) c.2516T>A c.12415T>A (p.Ser4139Thr) n.3658T>A c.12517T>A (p.Ser4173Thr) c.12514T>A (p.Ser4172Thr) c.12493T>A (p.Ser4165Thr) c.12487T>A (p.Ser4163Thr) c.12481T>A (p.Ser4161Thr) c.12457T>A (p.Ser4153Thr) c.12280T>A (p.Ser4094Thr) c.12424T>A (p.Ser4142Thr) c.12496T>A (p.Ser4166Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237784175T>C | CA345413368 | RYR2 | c.*3555T>C (n.*3555T>C) c.12451T>C (p.Ser4151Pro) c.12484T>C (p.Ser4162Pro) c.4640T>C c.12463T>C (p.Ser4155Pro) c.2516T>C c.12415T>C (p.Ser4139Pro) n.3658T>C c.12517T>C (p.Ser4173Pro) c.12514T>C (p.Ser4172Pro) c.12493T>C (p.Ser4165Pro) c.12487T>C (p.Ser4163Pro) c.12481T>C (p.Ser4161Pro) c.12457T>C (p.Ser4153Pro) c.12280T>C (p.Ser4094Pro) c.12424T>C (p.Ser4142Pro) c.12496T>C (p.Ser4166Pro) | dbSNP |
| 1 | g.237784175T>G | CA345413373 | RYR2 | c.*3555T>G (n.*3555T>G) c.12451T>G (p.Ser4151Ala) c.12484T>G (p.Ser4162Ala) c.4640T>G c.12463T>G (p.Ser4155Ala) c.2516T>G c.12415T>G (p.Ser4139Ala) n.3658T>G c.12517T>G (p.Ser4173Ala) c.12514T>G (p.Ser4172Ala) c.12493T>G (p.Ser4165Ala) c.12487T>G (p.Ser4163Ala) c.12481T>G (p.Ser4161Ala) c.12457T>G (p.Ser4153Ala) c.12280T>G (p.Ser4094Ala) c.12424T>G (p.Ser4142Ala) c.12496T>G (p.Ser4166Ala) | |
| 1 | g.237784175T= | CA2487482415 | RYR2 | c.*3555T= (n.*3555T=) c.12451T= (p.Ser4151=) c.12484T= (p.Ser4162=) c.4640T= c.12463T= (p.Ser4155=) c.2516T= c.12415T= (p.Ser4139=) n.3658T= c.12517T= (p.Ser4173=) c.12514T= (p.Ser4172=) c.12493T= (p.Ser4165=) c.12487T= (p.Ser4163=) c.12481T= (p.Ser4161=) c.12457T= (p.Ser4153=) c.12280T= (p.Ser4094=) c.12424T= (p.Ser4142=) c.12496T= (p.Ser4166=) | |
| 1 | g.237784176C>A | CA345413376 | RYR2 | c.*3556C>A (n.*3556C>A) c.12452C>A (p.Ser4151Tyr) c.12485C>A (p.Ser4162Tyr) c.4641C>A c.12464C>A (p.Ser4155Tyr) c.2517C>A c.12416C>A (p.Ser4139Tyr) n.3659C>A c.12518C>A (p.Ser4173Tyr) c.12515C>A (p.Ser4172Tyr) c.12494C>A (p.Ser4165Tyr) c.12488C>A (p.Ser4163Tyr) c.12482C>A (p.Ser4161Tyr) c.12458C>A (p.Ser4153Tyr) c.12281C>A (p.Ser4094Tyr) c.12425C>A (p.Ser4142Tyr) c.12497C>A (p.Ser4166Tyr) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.237784176C>G | CA345413381 | RYR2 | c.*3556C>G (n.*3556C>G) c.12452C>G (p.Ser4151Cys) c.12485C>G (p.Ser4162Cys) c.4641C>G c.12464C>G (p.Ser4155Cys) c.2517C>G c.12416C>G (p.Ser4139Cys) n.3659C>G c.12518C>G (p.Ser4173Cys) c.12515C>G (p.Ser4172Cys) c.12494C>G (p.Ser4165Cys) c.12488C>G (p.Ser4163Cys) c.12482C>G (p.Ser4161Cys) c.12458C>G (p.Ser4153Cys) c.12281C>G (p.Ser4094Cys) c.12425C>G (p.Ser4142Cys) c.12497C>G (p.Ser4166Cys) | |
| 1 | g.237784176C>T | CA345413378 | RYR2 | c.*3556C>T (n.*3556C>T) c.12452C>T (p.Ser4151Phe) c.12485C>T (p.Ser4162Phe) c.4641C>T c.12464C>T (p.Ser4155Phe) c.2517C>T c.12416C>T (p.Ser4139Phe) n.3659C>T c.12518C>T (p.Ser4173Phe) c.12515C>T (p.Ser4172Phe) c.12494C>T (p.Ser4165Phe) c.12488C>T (p.Ser4163Phe) c.12482C>T (p.Ser4161Phe) c.12458C>T (p.Ser4153Phe) c.12281C>T (p.Ser4094Phe) c.12425C>T (p.Ser4142Phe) c.12497C>T (p.Ser4166Phe) | |
| 1 | g.237784177C>A | CA424032218 | RYR2 | c.*3557C>A (n.*3557C>A) c.12453C>A (p.Ser4151=) c.12486C>A (p.Ser4162=) c.4642C>A c.12465C>A (p.Ser4155=) c.2518C>A c.12417C>A (p.Ser4139=) n.3660C>A c.12519C>A (p.Ser4173=) c.12516C>A (p.Ser4172=) c.12495C>A (p.Ser4165=) c.12489C>A (p.Ser4163=) c.12483C>A (p.Ser4161=) c.12459C>A (p.Ser4153=) c.12282C>A (p.Ser4094=) c.12426C>A (p.Ser4142=) c.12498C>A (p.Ser4166=) | |
| 1 | g.237784177C>G | CA424032219 | RYR2 | c.*3557C>G (n.*3557C>G) c.12453C>G (p.Ser4151=) c.12486C>G (p.Ser4162=) c.4642C>G c.12465C>G (p.Ser4155=) c.2518C>G c.12417C>G (p.Ser4139=) n.3660C>G c.12519C>G (p.Ser4173=) c.12516C>G (p.Ser4172=) c.12495C>G (p.Ser4165=) c.12489C>G (p.Ser4163=) c.12483C>G (p.Ser4161=) c.12459C>G (p.Ser4153=) c.12282C>G (p.Ser4094=) c.12426C>G (p.Ser4142=) c.12498C>G (p.Ser4166=) | |
| 1 | g.237784177C>T | CA424032220 | RYR2 | c.*3557C>T (n.*3557C>T) c.12453C>T (p.Ser4151=) c.12486C>T (p.Ser4162=) c.4642C>T c.12465C>T (p.Ser4155=) c.2518C>T c.12417C>T (p.Ser4139=) n.3660C>T c.12519C>T (p.Ser4173=) c.12516C>T (p.Ser4172=) c.12495C>T (p.Ser4165=) c.12489C>T (p.Ser4163=) c.12483C>T (p.Ser4161=) c.12459C>T (p.Ser4153=) c.12282C>T (p.Ser4094=) c.12426C>T (p.Ser4142=) c.12498C>T (p.Ser4166=) | gnomAD v4 |
| 1 | g.237784178A>C | CA345413383 | RYR2 | c.*3558A>C (n.*3558A>C) c.12454A>C (p.Ser4152Arg) c.12487A>C (p.Ser4163Arg) c.4643A>C c.12466A>C (p.Ser4156Arg) c.2519A>C c.12418A>C (p.Ser4140Arg) n.3661A>C c.12520A>C (p.Ser4174Arg) c.12517A>C (p.Ser4173Arg) c.12496A>C (p.Ser4166Arg) c.12490A>C (p.Ser4164Arg) c.12484A>C (p.Ser4162Arg) c.12460A>C (p.Ser4154Arg) c.12283A>C (p.Ser4095Arg) c.12427A>C (p.Ser4143Arg) c.12499A>C (p.Ser4167Arg) | COSMIC COSMIC |
| 1 | g.237784178A>G | CA345413388 | RYR2 | c.*3558A>G (n.*3558A>G) c.12454A>G (p.Ser4152Gly) c.12487A>G (p.Ser4163Gly) c.4643A>G c.12466A>G (p.Ser4156Gly) c.2519A>G c.12418A>G (p.Ser4140Gly) n.3661A>G c.12520A>G (p.Ser4174Gly) c.12517A>G (p.Ser4173Gly) c.12496A>G (p.Ser4166Gly) c.12490A>G (p.Ser4164Gly) c.12484A>G (p.Ser4162Gly) c.12460A>G (p.Ser4154Gly) c.12283A>G (p.Ser4095Gly) c.12427A>G (p.Ser4143Gly) c.12499A>G (p.Ser4167Gly) | |
| 1 | g.237784178A>T | CA345413390 | RYR2 | c.*3558A>T (n.*3558A>T) c.12454A>T (p.Ser4152Cys) c.12487A>T (p.Ser4163Cys) c.4643A>T c.12466A>T (p.Ser4156Cys) c.2519A>T c.12418A>T (p.Ser4140Cys) n.3661A>T c.12520A>T (p.Ser4174Cys) c.12517A>T (p.Ser4173Cys) c.12496A>T (p.Ser4166Cys) c.12490A>T (p.Ser4164Cys) c.12484A>T (p.Ser4162Cys) c.12460A>T (p.Ser4154Cys) c.12283A>T (p.Ser4095Cys) c.12427A>T (p.Ser4143Cys) c.12499A>T (p.Ser4167Cys) | |
| 1 | g.237784179G>A | CA345413393 | RYR2 | c.*3559G>A (n.*3559G>A) c.12455G>A (p.Ser4152Asn) c.12488G>A (p.Ser4163Asn) c.4644G>A c.12467G>A (p.Ser4156Asn) c.2520G>A c.12419G>A (p.Ser4140Asn) n.3662G>A c.12521G>A (p.Ser4174Asn) c.12518G>A (p.Ser4173Asn) c.12497G>A (p.Ser4166Asn) c.12491G>A (p.Ser4164Asn) c.12485G>A (p.Ser4162Asn) c.12461G>A (p.Ser4154Asn) c.12284G>A (p.Ser4095Asn) c.12428G>A (p.Ser4143Asn) c.12500G>A (p.Ser4167Asn) | |
| 1 | g.237784179G>C | CA345413396 | RYR2 | c.*3559G>C (n.*3559G>C) c.12455G>C (p.Ser4152Thr) c.12488G>C (p.Ser4163Thr) c.4644G>C c.12467G>C (p.Ser4156Thr) c.2520G>C c.12419G>C (p.Ser4140Thr) n.3662G>C c.12521G>C (p.Ser4174Thr) c.12518G>C (p.Ser4173Thr) c.12497G>C (p.Ser4166Thr) c.12491G>C (p.Ser4164Thr) c.12485G>C (p.Ser4162Thr) c.12461G>C (p.Ser4154Thr) c.12284G>C (p.Ser4095Thr) c.12428G>C (p.Ser4143Thr) c.12500G>C (p.Ser4167Thr) | |
| 1 | g.237784179G>T | CA345413397 | RYR2 | c.*3559G>T (n.*3559G>T) c.12455G>T (p.Ser4152Ile) c.12488G>T (p.Ser4163Ile) c.4644G>T c.12467G>T (p.Ser4156Ile) c.2520G>T c.12419G>T (p.Ser4140Ile) n.3662G>T c.12521G>T (p.Ser4174Ile) c.12518G>T (p.Ser4173Ile) c.12497G>T (p.Ser4166Ile) c.12491G>T (p.Ser4164Ile) c.12485G>T (p.Ser4162Ile) c.12461G>T (p.Ser4154Ile) c.12284G>T (p.Ser4095Ile) c.12428G>T (p.Ser4143Ile) c.12500G>T (p.Ser4167Ile) | |
| 1 | g.237784180C>A | CA16622167 | RYR2 | c.*3560C>A (n.*3560C>A) c.12456C>A (p.Ser4152Arg) c.12489C>A (p.Ser4163Arg) c.4645C>A c.12468C>A (p.Ser4156Arg) c.2521C>A c.12420C>A (p.Ser4140Arg) n.3663C>A c.12522C>A (p.Ser4174Arg) c.12519C>A (p.Ser4173Arg) c.12498C>A (p.Ser4166Arg) c.12492C>A (p.Ser4164Arg) c.12486C>A (p.Ser4162Arg) c.12462C>A (p.Ser4154Arg) c.12285C>A (p.Ser4095Arg) c.12429C>A (p.Ser4143Arg) c.12501C>A (p.Ser4167Arg) | gnomAD v4 |
| 1 | g.237784180C= | CA2487482416 | RYR2 | c.*3560C= (n.*3560C=) c.12456C= (p.Ser4152=) c.12489C= (p.Ser4163=) c.4645C= c.12468C= (p.Ser4156=) c.2521C= c.12420C= (p.Ser4140=) n.3663C= c.12522C= (p.Ser4174=) c.12519C= (p.Ser4173=) c.12498C= (p.Ser4166=) c.12492C= (p.Ser4164=) c.12486C= (p.Ser4162=) c.12462C= (p.Ser4154=) c.12285C= (p.Ser4095=) c.12429C= (p.Ser4143=) c.12501C= (p.Ser4167=) | |
| 1 | g.237784180C>G | CA345413401 | RYR2 | c.*3560C>G (n.*3560C>G) c.12456C>G (p.Ser4152Arg) c.12489C>G (p.Ser4163Arg) c.4645C>G c.12468C>G (p.Ser4156Arg) c.2521C>G c.12420C>G (p.Ser4140Arg) n.3663C>G c.12522C>G (p.Ser4174Arg) c.12519C>G (p.Ser4173Arg) c.12498C>G (p.Ser4166Arg) c.12492C>G (p.Ser4164Arg) c.12486C>G (p.Ser4162Arg) c.12462C>G (p.Ser4154Arg) c.12285C>G (p.Ser4095Arg) c.12429C>G (p.Ser4143Arg) c.12501C>G (p.Ser4167Arg) | |
| 1 | g.237784180C>T | CA424032223 | RYR2 | c.*3560C>T (n.*3560C>T) c.12456C>T (p.Ser4152=) c.12489C>T (p.Ser4163=) c.4645C>T c.12468C>T (p.Ser4156=) c.2521C>T c.12420C>T (p.Ser4140=) n.3663C>T c.12522C>T (p.Ser4174=) c.12519C>T (p.Ser4173=) c.12498C>T (p.Ser4166=) c.12492C>T (p.Ser4164=) c.12486C>T (p.Ser4162=) c.12462C>T (p.Ser4154=) c.12285C>T (p.Ser4095=) c.12429C>T (p.Ser4143=) c.12501C>T (p.Ser4167=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237784181C>A | CA424032224 | RYR2 | c.*3561C>A (n.*3561C>A) c.12457C>A (p.Arg4153=) c.12490C>A (p.Arg4164=) c.4646C>A c.12469C>A (p.Arg4157=) c.2522C>A c.12421C>A (p.Arg4141=) n.3664C>A c.12523C>A (p.Arg4175=) c.12520C>A (p.Arg4174=) c.12499C>A (p.Arg4167=) c.12493C>A (p.Arg4165=) c.12487C>A (p.Arg4163=) c.12463C>A (p.Arg4155=) c.12286C>A (p.Arg4096=) c.12430C>A (p.Arg4144=) c.12502C>A (p.Arg4168=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237784181C= | CA2487482417 | RYR2 | c.*3561C= (n.*3561C=) c.12457C= (p.Arg4153=) c.12490C= (p.Arg4164=) c.4646C= c.12469C= (p.Arg4157=) c.2522C= c.12421C= (p.Arg4141=) n.3664C= c.12523C= (p.Arg4175=) c.12520C= (p.Arg4174=) c.12499C= (p.Arg4167=) c.12493C= (p.Arg4165=) c.12487C= (p.Arg4163=) c.12463C= (p.Arg4155=) c.12286C= (p.Arg4096=) c.12430C= (p.Arg4144=) c.12502C= (p.Arg4168=) | |
| 1 | g.237784181C>G | CA345413402 | RYR2 | c.*3561C>G (n.*3561C>G) c.12457C>G (p.Arg4153Gly) c.12490C>G (p.Arg4164Gly) c.4646C>G c.12469C>G (p.Arg4157Gly) c.2522C>G c.12421C>G (p.Arg4141Gly) n.3664C>G c.12523C>G (p.Arg4175Gly) c.12520C>G (p.Arg4174Gly) c.12499C>G (p.Arg4167Gly) c.12493C>G (p.Arg4165Gly) c.12487C>G (p.Arg4163Gly) c.12463C>G (p.Arg4155Gly) c.12286C>G (p.Arg4096Gly) c.12430C>G (p.Arg4144Gly) c.12502C>G (p.Arg4168Gly) | |
| 1 | g.237784181C>T | CA066453 | RYR2 | c.*3561C>T (n.*3561C>T) c.12457C>T (p.Arg4153Ter) c.12490C>T (p.Arg4164Ter) c.4646C>T c.12469C>T (p.Arg4157Ter) c.2522C>T c.12421C>T (p.Arg4141Ter) n.3664C>T c.12523C>T (p.Arg4175Ter) c.12520C>T (p.Arg4174Ter) c.12499C>T (p.Arg4167Ter) c.12493C>T (p.Arg4165Ter) c.12487C>T (p.Arg4163Ter) c.12463C>T (p.Arg4155Ter) c.12286C>T (p.Arg4096Ter) c.12430C>T (p.Arg4144Ter) c.12502C>T (p.Arg4168Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237784182G>A | CA007532 | RYR2 | c.*3562G>A (n.*3562G>A) c.12458G>A (p.Arg4153Gln) c.12491G>A (p.Arg4164Gln) c.4647G>A c.12470G>A (p.Arg4157Gln) c.2523G>A c.12422G>A (p.Arg4141Gln) n.3665G>A c.12524G>A (p.Arg4175Gln) c.12521G>A (p.Arg4174Gln) c.12500G>A (p.Arg4167Gln) c.12494G>A (p.Arg4165Gln) c.12488G>A (p.Arg4163Gln) c.12464G>A (p.Arg4155Gln) c.12287G>A (p.Arg4096Gln) c.12431G>A (p.Arg4144Gln) c.12503G>A (p.Arg4168Gln) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.237784182G>C | CA345413404 | RYR2 | c.*3562G>C (n.*3562G>C) c.12458G>C (p.Arg4153Pro) c.12491G>C (p.Arg4164Pro) c.4647G>C c.12470G>C (p.Arg4157Pro) c.2523G>C c.12422G>C (p.Arg4141Pro) n.3665G>C c.12524G>C (p.Arg4175Pro) c.12521G>C (p.Arg4174Pro) c.12500G>C (p.Arg4167Pro) c.12494G>C (p.Arg4165Pro) c.12488G>C (p.Arg4163Pro) c.12464G>C (p.Arg4155Pro) c.12287G>C (p.Arg4096Pro) c.12431G>C (p.Arg4144Pro) c.12503G>C (p.Arg4168Pro) | |
| 1 | g.237784182G= | CA2487482418 | RYR2 | c.*3562G= (n.*3562G=) c.12458G= (p.Arg4153=) c.12491G= (p.Arg4164=) c.4647G= c.12470G= (p.Arg4157=) c.2523G= c.12422G= (p.Arg4141=) n.3665G= c.12524G= (p.Arg4175=) c.12521G= (p.Arg4174=) c.12500G= (p.Arg4167=) c.12494G= (p.Arg4165=) c.12488G= (p.Arg4163=) c.12464G= (p.Arg4155=) c.12287G= (p.Arg4096=) c.12431G= (p.Arg4144=) c.12503G= (p.Arg4168=) | |
| 1 | g.237784182G>T | CA345413403 | RYR2 | c.*3562G>T (n.*3562G>T) c.12458G>T (p.Arg4153Leu) c.12491G>T (p.Arg4164Leu) c.4647G>T c.12470G>T (p.Arg4157Leu) c.2523G>T c.12422G>T (p.Arg4141Leu) n.3665G>T c.12524G>T (p.Arg4175Leu) c.12521G>T (p.Arg4174Leu) c.12500G>T (p.Arg4167Leu) c.12494G>T (p.Arg4165Leu) c.12488G>T (p.Arg4163Leu) c.12464G>T (p.Arg4155Leu) c.12287G>T (p.Arg4096Leu) c.12431G>T (p.Arg4144Leu) c.12503G>T (p.Arg4168Leu) | |
| 1 | g.237784183A= | CA2487482419 | RYR2 | c.*3563A= (n.*3563A=) c.12459A= (p.Arg4153=) c.12492A= (p.Arg4164=) c.4648A= c.12471A= (p.Arg4157=) c.2524A= c.12423A= (p.Arg4141=) n.3666A= c.12525A= (p.Arg4175=) c.12522A= (p.Arg4174=) c.12501A= (p.Arg4167=) c.12495A= (p.Arg4165=) c.12489A= (p.Arg4163=) c.12465A= (p.Arg4155=) c.12288A= (p.Arg4096=) c.12432A= (p.Arg4144=) c.12504A= (p.Arg4168=) | |
| 1 | g.237784183A>C | CA424032225 | RYR2 | c.*3563A>C (n.*3563A>C) c.12459A>C (p.Arg4153=) c.12492A>C (p.Arg4164=) c.4648A>C c.12471A>C (p.Arg4157=) c.2524A>C c.12423A>C (p.Arg4141=) n.3666A>C c.12525A>C (p.Arg4175=) c.12522A>C (p.Arg4174=) c.12501A>C (p.Arg4167=) c.12495A>C (p.Arg4165=) c.12489A>C (p.Arg4163=) c.12465A>C (p.Arg4155=) c.12288A>C (p.Arg4096=) c.12432A>C (p.Arg4144=) c.12504A>C (p.Arg4168=) | |
| 1 | g.237784183A>G | CA085186 | RYR2 | c.*3563A>G (n.*3563A>G) c.12459A>G (p.Arg4153=) c.12492A>G (p.Arg4164=) c.4648A>G c.12471A>G (p.Arg4157=) c.2524A>G c.12423A>G (p.Arg4141=) n.3666A>G c.12525A>G (p.Arg4175=) c.12522A>G (p.Arg4174=) c.12501A>G (p.Arg4167=) c.12495A>G (p.Arg4165=) c.12489A>G (p.Arg4163=) c.12465A>G (p.Arg4155=) c.12288A>G (p.Arg4096=) c.12432A>G (p.Arg4144=) c.12504A>G (p.Arg4168=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784183A>T | CA424032229 | RYR2 | c.*3563A>T (n.*3563A>T) c.12459A>T (p.Arg4153=) c.12492A>T (p.Arg4164=) c.4648A>T c.12471A>T (p.Arg4157=) c.2524A>T c.12423A>T (p.Arg4141=) n.3666A>T c.12525A>T (p.Arg4175=) c.12522A>T (p.Arg4174=) c.12501A>T (p.Arg4167=) c.12495A>T (p.Arg4165=) c.12489A>T (p.Arg4163=) c.12465A>T (p.Arg4155=) c.12288A>T (p.Arg4096=) c.12432A>T (p.Arg4144=) c.12504A>T (p.Arg4168=) | |
| 1 | g.237784184A= | CA2487482420 | RYR2 | c.*3564A= (n.*3564A=) c.12460A= (p.Thr4154=) c.12493A= (p.Thr4165=) c.4649A= c.12472A= (p.Thr4158=) c.2525A= c.12424A= (p.Thr4142=) n.3667A= c.12526A= (p.Thr4176=) c.12523A= (p.Thr4175=) c.12502A= (p.Thr4168=) c.12496A= (p.Thr4166=) c.12490A= (p.Thr4164=) c.12466A= (p.Thr4156=) c.12289A= (p.Thr4097=) c.12433A= (p.Thr4145=) c.12505A= (p.Thr4169=) | |
| 1 | g.237784184A>C | CA345413410 | RYR2 | c.*3564A>C (n.*3564A>C) c.12460A>C (p.Thr4154Pro) c.12493A>C (p.Thr4165Pro) c.4649A>C c.12472A>C (p.Thr4158Pro) c.2525A>C c.12424A>C (p.Thr4142Pro) n.3667A>C c.12526A>C (p.Thr4176Pro) c.12523A>C (p.Thr4175Pro) c.12502A>C (p.Thr4168Pro) c.12496A>C (p.Thr4166Pro) c.12490A>C (p.Thr4164Pro) c.12466A>C (p.Thr4156Pro) c.12289A>C (p.Thr4097Pro) c.12433A>C (p.Thr4145Pro) c.12505A>C (p.Thr4169Pro) | dbSNP |
| 1 | g.237784184A>G | CA345413409 | RYR2 | c.*3564A>G (n.*3564A>G) c.12460A>G (p.Thr4154Ala) c.12493A>G (p.Thr4165Ala) c.4649A>G c.12472A>G (p.Thr4158Ala) c.2525A>G c.12424A>G (p.Thr4142Ala) n.3667A>G c.12526A>G (p.Thr4176Ala) c.12523A>G (p.Thr4175Ala) c.12502A>G (p.Thr4168Ala) c.12496A>G (p.Thr4166Ala) c.12490A>G (p.Thr4164Ala) c.12466A>G (p.Thr4156Ala) c.12289A>G (p.Thr4097Ala) c.12433A>G (p.Thr4145Ala) c.12505A>G (p.Thr4169Ala) | dbSNP gnomAD v4 |
| 1 | g.237784184A>T | CA345413411 | RYR2 | c.*3564A>T (n.*3564A>T) c.12460A>T (p.Thr4154Ser) c.12493A>T (p.Thr4165Ser) c.4649A>T c.12472A>T (p.Thr4158Ser) c.2525A>T c.12424A>T (p.Thr4142Ser) n.3667A>T c.12526A>T (p.Thr4176Ser) c.12523A>T (p.Thr4175Ser) c.12502A>T (p.Thr4168Ser) c.12496A>T (p.Thr4166Ser) c.12490A>T (p.Thr4164Ser) c.12466A>T (p.Thr4156Ser) c.12289A>T (p.Thr4097Ser) c.12433A>T (p.Thr4145Ser) c.12505A>T (p.Thr4169Ser) | dbSNP |
| 1 | g.237784185C>A | CA345413412 | RYR2 | c.*3565C>A (n.*3565C>A) c.12461C>A (p.Thr4154Asn) c.12494C>A (p.Thr4165Asn) c.4650C>A c.12473C>A (p.Thr4158Asn) c.2526C>A c.12425C>A (p.Thr4142Asn) n.3668C>A c.12527C>A (p.Thr4176Asn) c.12524C>A (p.Thr4175Asn) c.12503C>A (p.Thr4168Asn) c.12497C>A (p.Thr4166Asn) c.12491C>A (p.Thr4164Asn) c.12467C>A (p.Thr4156Asn) c.12290C>A (p.Thr4097Asn) c.12434C>A (p.Thr4145Asn) c.12506C>A (p.Thr4169Asn) | |
| 1 | g.237784185C>G | CA345413414 | RYR2 | c.*3565C>G (n.*3565C>G) c.12461C>G (p.Thr4154Ser) c.12494C>G (p.Thr4165Ser) c.4650C>G c.12473C>G (p.Thr4158Ser) c.2526C>G c.12425C>G (p.Thr4142Ser) n.3668C>G c.12527C>G (p.Thr4176Ser) c.12524C>G (p.Thr4175Ser) c.12503C>G (p.Thr4168Ser) c.12497C>G (p.Thr4166Ser) c.12491C>G (p.Thr4164Ser) c.12467C>G (p.Thr4156Ser) c.12290C>G (p.Thr4097Ser) c.12434C>G (p.Thr4145Ser) c.12506C>G (p.Thr4169Ser) | |
| 1 | g.237784185C>T | CA345413413 | RYR2 | c.*3565C>T (n.*3565C>T) c.12461C>T (p.Thr4154Ile) c.12494C>T (p.Thr4165Ile) c.4650C>T c.12473C>T (p.Thr4158Ile) c.2526C>T c.12425C>T (p.Thr4142Ile) n.3668C>T c.12527C>T (p.Thr4176Ile) c.12524C>T (p.Thr4175Ile) c.12503C>T (p.Thr4168Ile) c.12497C>T (p.Thr4166Ile) c.12491C>T (p.Thr4164Ile) c.12467C>T (p.Thr4156Ile) c.12290C>T (p.Thr4097Ile) c.12434C>T (p.Thr4145Ile) c.12506C>T (p.Thr4169Ile) | |
| 1 | g.237784186C>A | CA424032233 | RYR2 | c.*3566C>A (n.*3566C>A) c.12462C>A (p.Thr4154=) c.12495C>A (p.Thr4165=) c.4651C>A c.12474C>A (p.Thr4158=) c.2527C>A c.12426C>A (p.Thr4142=) n.3669C>A c.12528C>A (p.Thr4176=) c.12525C>A (p.Thr4175=) c.12504C>A (p.Thr4168=) c.12498C>A (p.Thr4166=) c.12492C>A (p.Thr4164=) c.12468C>A (p.Thr4156=) c.12291C>A (p.Thr4097=) c.12435C>A (p.Thr4145=) c.12507C>A (p.Thr4169=) | |
| 1 | g.237784186C= | CA2487482421 | RYR2 | c.*3566C= (n.*3566C=) c.12462C= (p.Thr4154=) c.12495C= (p.Thr4165=) c.4651C= c.12474C= (p.Thr4158=) c.2527C= c.12426C= (p.Thr4142=) n.3669C= c.12528C= (p.Thr4176=) c.12525C= (p.Thr4175=) c.12504C= (p.Thr4168=) c.12498C= (p.Thr4166=) c.12492C= (p.Thr4164=) c.12468C= (p.Thr4156=) c.12291C= (p.Thr4097=) c.12435C= (p.Thr4145=) c.12507C= (p.Thr4169=) | |
| 1 | g.237784186C>G | CA085187 | RYR2 | c.*3566C>G (n.*3566C>G) c.12462C>G (p.Thr4154=) c.12495C>G (p.Thr4165=) c.4651C>G c.12474C>G (p.Thr4158=) c.2527C>G c.12426C>G (p.Thr4142=) n.3669C>G c.12528C>G (p.Thr4176=) c.12525C>G (p.Thr4175=) c.12504C>G (p.Thr4168=) c.12498C>G (p.Thr4166=) c.12492C>G (p.Thr4164=) c.12468C>G (p.Thr4156=) c.12291C>G (p.Thr4097=) c.12435C>G (p.Thr4145=) c.12507C>G (p.Thr4169=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237784186C>T | CA424032231 | RYR2 | c.*3566C>T (n.*3566C>T) c.12462C>T (p.Thr4154=) c.12495C>T (p.Thr4165=) c.4651C>T c.12474C>T (p.Thr4158=) c.2527C>T c.12426C>T (p.Thr4142=) n.3669C>T c.12528C>T (p.Thr4176=) c.12525C>T (p.Thr4175=) c.12504C>T (p.Thr4168=) c.12498C>T (p.Thr4166=) c.12492C>T (p.Thr4164=) c.12468C>T (p.Thr4156=) c.12291C>T (p.Thr4097=) c.12435C>T (p.Thr4145=) c.12507C>T (p.Thr4169=) | gnomAD v4 |
| 1 | g.237784187C>A | CA345413416 | RYR2 | c.*3567C>A (n.*3567C>A) c.12463C>A (p.Gln4155Lys) c.12496C>A (p.Gln4166Lys) c.4652C>A c.12475C>A (p.Gln4159Lys) c.2528C>A c.12427C>A (p.Gln4143Lys) n.3670C>A c.12529C>A (p.Gln4177Lys) c.12526C>A (p.Gln4176Lys) c.12505C>A (p.Gln4169Lys) c.12499C>A (p.Gln4167Lys) c.12493C>A (p.Gln4165Lys) c.12469C>A (p.Gln4157Lys) c.12292C>A (p.Gln4098Lys) c.12436C>A (p.Gln4146Lys) c.12508C>A (p.Gln4170Lys) | ClinVar |
| 1 | g.237784187C>G | CA345413415 | RYR2 | c.*3567C>G (n.*3567C>G) c.12463C>G (p.Gln4155Glu) c.12496C>G (p.Gln4166Glu) c.4652C>G c.12475C>G (p.Gln4159Glu) c.2528C>G c.12427C>G (p.Gln4143Glu) n.3670C>G c.12529C>G (p.Gln4177Glu) c.12526C>G (p.Gln4176Glu) c.12505C>G (p.Gln4169Glu) c.12499C>G (p.Gln4167Glu) c.12493C>G (p.Gln4165Glu) c.12469C>G (p.Gln4157Glu) c.12292C>G (p.Gln4098Glu) c.12436C>G (p.Gln4146Glu) c.12508C>G (p.Gln4170Glu) | |
| 1 | g.237784187C>T | CA345413417 | RYR2 | c.*3567C>T (n.*3567C>T) c.12463C>T (p.Gln4155Ter) c.12496C>T (p.Gln4166Ter) c.4652C>T c.12475C>T (p.Gln4159Ter) c.2528C>T c.12427C>T (p.Gln4143Ter) n.3670C>T c.12529C>T (p.Gln4177Ter) c.12526C>T (p.Gln4176Ter) c.12505C>T (p.Gln4169Ter) c.12499C>T (p.Gln4167Ter) c.12493C>T (p.Gln4165Ter) c.12469C>T (p.Gln4157Ter) c.12292C>T (p.Gln4098Ter) c.12436C>T (p.Gln4146Ter) c.12508C>T (p.Gln4170Ter) | |
| 1 | g.237784188A= | CA2487482422 | RYR2 | c.*3568A= (n.*3568A=) c.12464A= (p.Gln4155=) c.12497A= (p.Gln4166=) c.4653A= c.12476A= (p.Gln4159=) c.2529A= c.12428A= (p.Gln4143=) n.3671A= c.12530A= (p.Gln4177=) c.12527A= (p.Gln4176=) c.12506A= (p.Gln4169=) c.12500A= (p.Gln4167=) c.12494A= (p.Gln4165=) c.12470A= (p.Gln4157=) c.12293A= (p.Gln4098=) c.12437A= (p.Gln4146=) c.12509A= (p.Gln4170=) | |
| 1 | g.237784188A>C | CA345413418 | RYR2 | c.*3568A>C (n.*3568A>C) c.12464A>C (p.Gln4155Pro) c.12497A>C (p.Gln4166Pro) c.4653A>C c.12476A>C (p.Gln4159Pro) c.2529A>C c.12428A>C (p.Gln4143Pro) n.3671A>C c.12530A>C (p.Gln4177Pro) c.12527A>C (p.Gln4176Pro) c.12506A>C (p.Gln4169Pro) c.12500A>C (p.Gln4167Pro) c.12494A>C (p.Gln4165Pro) c.12470A>C (p.Gln4157Pro) c.12293A>C (p.Gln4098Pro) c.12437A>C (p.Gln4146Pro) c.12509A>C (p.Gln4170Pro) | dbSNP |
| 1 | g.237784188A>G | CA345413420 | RYR2 | c.*3568A>G (n.*3568A>G) c.12464A>G (p.Gln4155Arg) c.12497A>G (p.Gln4166Arg) c.4653A>G c.12476A>G (p.Gln4159Arg) c.2529A>G c.12428A>G (p.Gln4143Arg) n.3671A>G c.12530A>G (p.Gln4177Arg) c.12527A>G (p.Gln4176Arg) c.12506A>G (p.Gln4169Arg) c.12500A>G (p.Gln4167Arg) c.12494A>G (p.Gln4165Arg) c.12470A>G (p.Gln4157Arg) c.12293A>G (p.Gln4098Arg) c.12437A>G (p.Gln4146Arg) c.12509A>G (p.Gln4170Arg) | |
| 1 | g.237784188A>T | CA345413419 | RYR2 | c.*3568A>T (n.*3568A>T) c.12464A>T (p.Gln4155Leu) c.12497A>T (p.Gln4166Leu) c.4653A>T c.12476A>T (p.Gln4159Leu) c.2529A>T c.12428A>T (p.Gln4143Leu) n.3671A>T c.12530A>T (p.Gln4177Leu) c.12527A>T (p.Gln4176Leu) c.12506A>T (p.Gln4169Leu) c.12500A>T (p.Gln4167Leu) c.12494A>T (p.Gln4165Leu) c.12470A>T (p.Gln4157Leu) c.12293A>T (p.Gln4098Leu) c.12437A>T (p.Gln4146Leu) c.12509A>T (p.Gln4170Leu) | |
| 1 | g.237784189G>A | CA424032234 | RYR2 | c.*3569G>A (n.*3569G>A) c.12465G>A (p.Gln4155=) c.12498G>A (p.Gln4166=) c.4654G>A c.12477G>A (p.Gln4159=) c.2530G>A c.12429G>A (p.Gln4143=) n.3672G>A c.12531G>A (p.Gln4177=) c.12528G>A (p.Gln4176=) c.12507G>A (p.Gln4169=) c.12501G>A (p.Gln4167=) c.12495G>A (p.Gln4165=) c.12471G>A (p.Gln4157=) c.12294G>A (p.Gln4098=) c.12438G>A (p.Gln4146=) c.12510G>A (p.Gln4170=) | |
| 1 | g.237784189G>C | CA345413421 | RYR2 | c.*3569G>C (n.*3569G>C) c.12465G>C (p.Gln4155His) c.12498G>C (p.Gln4166His) c.4654G>C c.12477G>C (p.Gln4159His) c.2530G>C c.12429G>C (p.Gln4143His) n.3672G>C c.12531G>C (p.Gln4177His) c.12528G>C (p.Gln4176His) c.12507G>C (p.Gln4169His) c.12501G>C (p.Gln4167His) c.12495G>C (p.Gln4165His) c.12471G>C (p.Gln4157His) c.12294G>C (p.Gln4098His) c.12438G>C (p.Gln4146His) c.12510G>C (p.Gln4170His) | |
| 1 | g.237784189G= | CA2487482423 | RYR2 | c.*3569G= (n.*3569G=) c.12465G= (p.Gln4155=) c.12498G= (p.Gln4166=) c.4654G= c.12477G= (p.Gln4159=) c.2530G= c.12429G= (p.Gln4143=) n.3672G= c.12531G= (p.Gln4177=) c.12528G= (p.Gln4176=) c.12507G= (p.Gln4169=) c.12501G= (p.Gln4167=) c.12495G= (p.Gln4165=) c.12471G= (p.Gln4157=) c.12294G= (p.Gln4098=) c.12438G= (p.Gln4146=) c.12510G= (p.Gln4170=) | |
| 1 | g.237784189G>T | CA345413422 | RYR2 | c.*3569G>T (n.*3569G>T) c.12465G>T (p.Gln4155His) c.12498G>T (p.Gln4166His) c.4654G>T c.12477G>T (p.Gln4159His) c.2530G>T c.12429G>T (p.Gln4143His) n.3672G>T c.12531G>T (p.Gln4177His) c.12528G>T (p.Gln4176His) c.12507G>T (p.Gln4169His) c.12501G>T (p.Gln4167His) c.12495G>T (p.Gln4165His) c.12471G>T (p.Gln4157His) c.12294G>T (p.Gln4098His) c.12438G>T (p.Gln4146His) c.12510G>T (p.Gln4170His) | ClinVar dbSNP |
| 1 | g.237784190T>A | CA345413423 | RYR2 | c.*3570T>A (n.*3570T>A) c.12466T>A (p.Trp4156Arg) c.12499T>A (p.Trp4167Arg) c.4655T>A c.12478T>A (p.Trp4160Arg) c.2531T>A c.12430T>A (p.Trp4144Arg) n.3673T>A c.12532T>A (p.Trp4178Arg) c.12529T>A (p.Trp4177Arg) c.12508T>A (p.Trp4170Arg) c.12502T>A (p.Trp4168Arg) c.12496T>A (p.Trp4166Arg) c.12472T>A (p.Trp4158Arg) c.12295T>A (p.Trp4099Arg) c.12439T>A (p.Trp4147Arg) c.12511T>A (p.Trp4171Arg) | |
| 1 | g.237784190T>C | CA345413424 | RYR2 | c.*3570T>C (n.*3570T>C) c.12466T>C (p.Trp4156Arg) c.12499T>C (p.Trp4167Arg) c.4655T>C c.12478T>C (p.Trp4160Arg) c.2531T>C c.12430T>C (p.Trp4144Arg) n.3673T>C c.12532T>C (p.Trp4178Arg) c.12529T>C (p.Trp4177Arg) c.12508T>C (p.Trp4170Arg) c.12502T>C (p.Trp4168Arg) c.12496T>C (p.Trp4166Arg) c.12472T>C (p.Trp4158Arg) c.12295T>C (p.Trp4099Arg) c.12439T>C (p.Trp4147Arg) c.12511T>C (p.Trp4171Arg) | |
| 1 | g.237784190T>G | CA345413425 | RYR2 | c.*3570T>G (n.*3570T>G) c.12466T>G (p.Trp4156Gly) c.12499T>G (p.Trp4167Gly) c.4655T>G c.12478T>G (p.Trp4160Gly) c.2531T>G c.12430T>G (p.Trp4144Gly) n.3673T>G c.12532T>G (p.Trp4178Gly) c.12529T>G (p.Trp4177Gly) c.12508T>G (p.Trp4170Gly) c.12502T>G (p.Trp4168Gly) c.12496T>G (p.Trp4166Gly) c.12472T>G (p.Trp4158Gly) c.12295T>G (p.Trp4099Gly) c.12439T>G (p.Trp4147Gly) c.12511T>G (p.Trp4171Gly) | |
| 1 | g.237784191G>A | CA345413426 | RYR2 | c.*3571G>A (n.*3571G>A) c.12467G>A (p.Trp4156Ter) c.12500G>A (p.Trp4167Ter) c.4656G>A c.12479G>A (p.Trp4160Ter) c.2532G>A c.12431G>A (p.Trp4144Ter) n.3674G>A c.12533G>A (p.Trp4178Ter) c.12530G>A (p.Trp4177Ter) c.12509G>A (p.Trp4170Ter) c.12503G>A (p.Trp4168Ter) c.12497G>A (p.Trp4166Ter) c.12473G>A (p.Trp4158Ter) c.12296G>A (p.Trp4099Ter) c.12440G>A (p.Trp4147Ter) c.12512G>A (p.Trp4171Ter) | |
| 1 | g.237784191G>C | CA345413427 | RYR2 | c.*3571G>C (n.*3571G>C) c.12467G>C (p.Trp4156Ser) c.12500G>C (p.Trp4167Ser) c.4656G>C c.12479G>C (p.Trp4160Ser) c.2532G>C c.12431G>C (p.Trp4144Ser) n.3674G>C c.12533G>C (p.Trp4178Ser) c.12530G>C (p.Trp4177Ser) c.12509G>C (p.Trp4170Ser) c.12503G>C (p.Trp4168Ser) c.12497G>C (p.Trp4166Ser) c.12473G>C (p.Trp4158Ser) c.12296G>C (p.Trp4099Ser) c.12440G>C (p.Trp4147Ser) c.12512G>C (p.Trp4171Ser) | |
| 1 | g.237784191G>T | CA345413428 | RYR2 | c.*3571G>T (n.*3571G>T) c.12467G>T (p.Trp4156Leu) c.12500G>T (p.Trp4167Leu) c.4656G>T c.12479G>T (p.Trp4160Leu) c.2532G>T c.12431G>T (p.Trp4144Leu) n.3674G>T c.12533G>T (p.Trp4178Leu) c.12530G>T (p.Trp4177Leu) c.12509G>T (p.Trp4170Leu) c.12503G>T (p.Trp4168Leu) c.12497G>T (p.Trp4166Leu) c.12473G>T (p.Trp4158Leu) c.12296G>T (p.Trp4099Leu) c.12440G>T (p.Trp4147Leu) c.12512G>T (p.Trp4171Leu) | |
| 1 | g.237784192G>A | CA345413429 | RYR2 | c.*3572G>A (n.*3572G>A) c.12468G>A (p.Trp4156Ter) c.12501G>A (p.Trp4167Ter) c.4657G>A c.12480G>A (p.Trp4160Ter) c.2533G>A c.12432G>A (p.Trp4144Ter) n.3675G>A c.12534G>A (p.Trp4178Ter) c.12531G>A (p.Trp4177Ter) c.12510G>A (p.Trp4170Ter) c.12504G>A (p.Trp4168Ter) c.12498G>A (p.Trp4166Ter) c.12474G>A (p.Trp4158Ter) c.12297G>A (p.Trp4099Ter) c.12441G>A (p.Trp4147Ter) c.12513G>A (p.Trp4171Ter) | gnomAD v4 |
| 1 | g.237784192G>C | CA345413430 | RYR2 | c.*3572G>C (n.*3572G>C) c.12468G>C (p.Trp4156Cys) c.12501G>C (p.Trp4167Cys) c.4657G>C c.12480G>C (p.Trp4160Cys) c.2533G>C c.12432G>C (p.Trp4144Cys) n.3675G>C c.12534G>C (p.Trp4178Cys) c.12531G>C (p.Trp4177Cys) c.12510G>C (p.Trp4170Cys) c.12504G>C (p.Trp4168Cys) c.12498G>C (p.Trp4166Cys) c.12474G>C (p.Trp4158Cys) c.12297G>C (p.Trp4099Cys) c.12441G>C (p.Trp4147Cys) c.12513G>C (p.Trp4171Cys) | |
| 1 | g.237784192G>T | CA345413431 | RYR2 | c.*3572G>T (n.*3572G>T) c.12468G>T (p.Trp4156Cys) c.12501G>T (p.Trp4167Cys) c.4657G>T c.12480G>T (p.Trp4160Cys) c.2533G>T c.12432G>T (p.Trp4144Cys) n.3675G>T c.12534G>T (p.Trp4178Cys) c.12531G>T (p.Trp4177Cys) c.12510G>T (p.Trp4170Cys) c.12504G>T (p.Trp4168Cys) c.12498G>T (p.Trp4166Cys) c.12474G>T (p.Trp4158Cys) c.12297G>T (p.Trp4099Cys) c.12441G>T (p.Trp4147Cys) c.12513G>T (p.Trp4171Cys) | COSMIC COSMIC |
| 1 | g.237784193G>A | CA345413434 | RYR2 | c.*3573G>A (n.*3573G>A) c.12469G>A (p.Glu4157Lys) c.12502G>A (p.Glu4168Lys) c.4658G>A c.12481G>A (p.Glu4161Lys) c.2534G>A c.12433G>A (p.Glu4145Lys) n.3676G>A c.12535G>A (p.Glu4179Lys) c.12532G>A (p.Glu4178Lys) c.12511G>A (p.Glu4171Lys) c.12505G>A (p.Glu4169Lys) c.12499G>A (p.Glu4167Lys) c.12475G>A (p.Glu4159Lys) c.12298G>A (p.Glu4100Lys) c.12442G>A (p.Glu4148Lys) c.12514G>A (p.Glu4172Lys) | ClinVar |
| 1 | g.237784193G>C | CA345413432 | RYR2 | c.*3573G>C (n.*3573G>C) c.12469G>C (p.Glu4157Gln) c.12502G>C (p.Glu4168Gln) c.4658G>C c.12481G>C (p.Glu4161Gln) c.2534G>C c.12433G>C (p.Glu4145Gln) n.3676G>C c.12535G>C (p.Glu4179Gln) c.12532G>C (p.Glu4178Gln) c.12511G>C (p.Glu4171Gln) c.12505G>C (p.Glu4169Gln) c.12499G>C (p.Glu4167Gln) c.12475G>C (p.Glu4159Gln) c.12298G>C (p.Glu4100Gln) c.12442G>C (p.Glu4148Gln) c.12514G>C (p.Glu4172Gln) | dbSNP |
| 1 | g.237784193G= | CA2487482424 | RYR2 | c.*3573G= (n.*3573G=) c.12469G= (p.Glu4157=) c.12502G= (p.Glu4168=) c.4658G= c.12481G= (p.Glu4161=) c.2534G= c.12433G= (p.Glu4145=) n.3676G= c.12535G= (p.Glu4179=) c.12532G= (p.Glu4178=) c.12511G= (p.Glu4171=) c.12505G= (p.Glu4169=) c.12499G= (p.Glu4167=) c.12475G= (p.Glu4159=) c.12298G= (p.Glu4100=) c.12442G= (p.Glu4148=) c.12514G= (p.Glu4172=) | |
| 1 | g.237784193G>T | CA345413433 | RYR2 | c.*3573G>T (n.*3573G>T) c.12469G>T (p.Glu4157Ter) c.12502G>T (p.Glu4168Ter) c.4658G>T c.12481G>T (p.Glu4161Ter) c.2534G>T c.12433G>T (p.Glu4145Ter) n.3676G>T c.12535G>T (p.Glu4179Ter) c.12532G>T (p.Glu4178Ter) c.12511G>T (p.Glu4171Ter) c.12505G>T (p.Glu4169Ter) c.12499G>T (p.Glu4167Ter) c.12475G>T (p.Glu4159Ter) c.12298G>T (p.Glu4100Ter) c.12442G>T (p.Glu4148Ter) c.12514G>T (p.Glu4172Ter) | gnomAD v4 |
| 1 | g.237784194A>C | CA345413435 | RYR2 | c.*3574A>C (n.*3574A>C) c.12470A>C (p.Glu4157Ala) c.12503A>C (p.Glu4168Ala) c.4659A>C c.12482A>C (p.Glu4161Ala) c.2535A>C c.12434A>C (p.Glu4145Ala) n.3677A>C c.12536A>C (p.Glu4179Ala) c.12533A>C (p.Glu4178Ala) c.12512A>C (p.Glu4171Ala) c.12506A>C (p.Glu4169Ala) c.12500A>C (p.Glu4167Ala) c.12476A>C (p.Glu4159Ala) c.12299A>C (p.Glu4100Ala) c.12443A>C (p.Glu4148Ala) c.12515A>C (p.Glu4172Ala) | |
| 1 | g.237784194A>G | CA345413436 | RYR2 | c.*3574A>G (n.*3574A>G) c.12470A>G (p.Glu4157Gly) c.12503A>G (p.Glu4168Gly) c.4659A>G c.12482A>G (p.Glu4161Gly) c.2535A>G c.12434A>G (p.Glu4145Gly) n.3677A>G c.12536A>G (p.Glu4179Gly) c.12533A>G (p.Glu4178Gly) c.12512A>G (p.Glu4171Gly) c.12506A>G (p.Glu4169Gly) c.12500A>G (p.Glu4167Gly) c.12476A>G (p.Glu4159Gly) c.12299A>G (p.Glu4100Gly) c.12443A>G (p.Glu4148Gly) c.12515A>G (p.Glu4172Gly) | gnomAD v4 COSMIC |
| 1 | g.237784194A>T | CA345413437 | RYR2 | c.*3574A>T (n.*3574A>T) c.12470A>T (p.Glu4157Val) c.12503A>T (p.Glu4168Val) c.4659A>T c.12482A>T (p.Glu4161Val) c.2535A>T c.12434A>T (p.Glu4145Val) n.3677A>T c.12536A>T (p.Glu4179Val) c.12533A>T (p.Glu4178Val) c.12512A>T (p.Glu4171Val) c.12506A>T (p.Glu4169Val) c.12500A>T (p.Glu4167Val) c.12476A>T (p.Glu4159Val) c.12299A>T (p.Glu4100Val) c.12443A>T (p.Glu4148Val) c.12515A>T (p.Glu4172Val) | |
| 1 | g.237784195G>A | CA424032248 | RYR2 | c.*3575G>A (n.*3575G>A) c.12471G>A (p.Glu4157=) c.12504G>A (p.Glu4168=) c.4660G>A c.12483G>A (p.Glu4161=) c.2536G>A c.12435G>A (p.Glu4145=) n.3678G>A c.12537G>A (p.Glu4179=) c.12534G>A (p.Glu4178=) c.12513G>A (p.Glu4171=) c.12507G>A (p.Glu4169=) c.12501G>A (p.Glu4167=) c.12477G>A (p.Glu4159=) c.12300G>A (p.Glu4100=) c.12444G>A (p.Glu4148=) c.12516G>A (p.Glu4172=) | dbSNP gnomAD v4 |
| 1 | g.237784195G>C | CA345413438 | RYR2 | c.*3575G>C (n.*3575G>C) c.12471G>C (p.Glu4157Asp) c.12504G>C (p.Glu4168Asp) c.4660G>C c.12483G>C (p.Glu4161Asp) c.2536G>C c.12435G>C (p.Glu4145Asp) n.3678G>C c.12537G>C (p.Glu4179Asp) c.12534G>C (p.Glu4178Asp) c.12513G>C (p.Glu4171Asp) c.12507G>C (p.Glu4169Asp) c.12501G>C (p.Glu4167Asp) c.12477G>C (p.Glu4159Asp) c.12300G>C (p.Glu4100Asp) c.12444G>C (p.Glu4148Asp) c.12516G>C (p.Glu4172Asp) | |
| 1 | g.237784195G>T | CA345413439 | RYR2 | c.*3575G>T (n.*3575G>T) c.12471G>T (p.Glu4157Asp) c.12504G>T (p.Glu4168Asp) c.4660G>T c.12483G>T (p.Glu4161Asp) c.2536G>T c.12435G>T (p.Glu4145Asp) n.3678G>T c.12537G>T (p.Glu4179Asp) c.12534G>T (p.Glu4178Asp) c.12513G>T (p.Glu4171Asp) c.12507G>T (p.Glu4169Asp) c.12501G>T (p.Glu4167Asp) c.12477G>T (p.Glu4159Asp) c.12300G>T (p.Glu4100Asp) c.12444G>T (p.Glu4148Asp) c.12516G>T (p.Glu4172Asp) | |
| 1 | g.237784196A>C | CA345413440 | RYR2 | c.*3576A>C (n.*3576A>C) c.12472A>C (p.Lys4158Gln) c.12505A>C (p.Lys4169Gln) c.4661A>C c.12484A>C (p.Lys4162Gln) c.2537A>C c.12436A>C (p.Lys4146Gln) n.3679A>C c.12538A>C (p.Lys4180Gln) c.12535A>C (p.Lys4179Gln) c.12514A>C (p.Lys4172Gln) c.12508A>C (p.Lys4170Gln) c.12502A>C (p.Lys4168Gln) c.12478A>C (p.Lys4160Gln) c.12301A>C (p.Lys4101Gln) c.12445A>C (p.Lys4149Gln) c.12517A>C (p.Lys4173Gln) | |
| 1 | g.237784196A>G | CA345413441 | RYR2 | c.*3576A>G (n.*3576A>G) c.12472A>G (p.Lys4158Glu) c.12505A>G (p.Lys4169Glu) c.4661A>G c.12484A>G (p.Lys4162Glu) c.2537A>G c.12436A>G (p.Lys4146Glu) n.3679A>G c.12538A>G (p.Lys4180Glu) c.12535A>G (p.Lys4179Glu) c.12514A>G (p.Lys4172Glu) c.12508A>G (p.Lys4170Glu) c.12502A>G (p.Lys4168Glu) c.12478A>G (p.Lys4160Glu) c.12301A>G (p.Lys4101Glu) c.12445A>G (p.Lys4149Glu) c.12517A>G (p.Lys4173Glu) | |
| 1 | g.237784196A>T | CA345413442 | RYR2 | c.*3576A>T (n.*3576A>T) c.12472A>T (p.Lys4158Ter) c.12505A>T (p.Lys4169Ter) c.4661A>T c.12484A>T (p.Lys4162Ter) c.2537A>T c.12436A>T (p.Lys4146Ter) n.3679A>T c.12538A>T (p.Lys4180Ter) c.12535A>T (p.Lys4179Ter) c.12514A>T (p.Lys4172Ter) c.12508A>T (p.Lys4170Ter) c.12502A>T (p.Lys4168Ter) c.12478A>T (p.Lys4160Ter) c.12301A>T (p.Lys4101Ter) c.12445A>T (p.Lys4149Ter) c.12517A>T (p.Lys4173Ter) | |
| 1 | g.237784197A>C | CA345413444 | RYR2 | c.*3577A>C (n.*3577A>C) c.12473A>C (p.Lys4158Thr) c.12506A>C (p.Lys4169Thr) c.4662A>C c.12485A>C (p.Lys4162Thr) c.2538A>C c.12437A>C (p.Lys4146Thr) n.3680A>C c.12539A>C (p.Lys4180Thr) c.12536A>C (p.Lys4179Thr) c.12515A>C (p.Lys4172Thr) c.12509A>C (p.Lys4170Thr) c.12503A>C (p.Lys4168Thr) c.12479A>C (p.Lys4160Thr) c.12302A>C (p.Lys4101Thr) c.12446A>C (p.Lys4149Thr) c.12518A>C (p.Lys4173Thr) | |
| 1 | g.237784197A>G | CA345413445 | RYR2 | c.*3577A>G (n.*3577A>G) c.12473A>G (p.Lys4158Arg) c.12506A>G (p.Lys4169Arg) c.4662A>G c.12485A>G (p.Lys4162Arg) c.2538A>G c.12437A>G (p.Lys4146Arg) n.3680A>G c.12539A>G (p.Lys4180Arg) c.12536A>G (p.Lys4179Arg) c.12515A>G (p.Lys4172Arg) c.12509A>G (p.Lys4170Arg) c.12503A>G (p.Lys4168Arg) c.12479A>G (p.Lys4160Arg) c.12302A>G (p.Lys4101Arg) c.12446A>G (p.Lys4149Arg) c.12518A>G (p.Lys4173Arg) | |
| 1 | g.237784197A>T | CA345413446 | RYR2 | c.*3577A>T (n.*3577A>T) c.12473A>T (p.Lys4158Met) c.12506A>T (p.Lys4169Met) c.4662A>T c.12485A>T (p.Lys4162Met) c.2538A>T c.12437A>T (p.Lys4146Met) n.3680A>T c.12539A>T (p.Lys4180Met) c.12536A>T (p.Lys4179Met) c.12515A>T (p.Lys4172Met) c.12509A>T (p.Lys4170Met) c.12503A>T (p.Lys4168Met) c.12479A>T (p.Lys4160Met) c.12302A>T (p.Lys4101Met) c.12446A>T (p.Lys4149Met) c.12518A>T (p.Lys4173Met) | |
| 1 | g.237784198G>A | CA424032250 | RYR2 | c.*3578G>A (n.*3578G>A) c.12474G>A (p.Lys4158=) c.12507G>A (p.Lys4169=) c.4663G>A c.12486G>A (p.Lys4162=) c.2539G>A c.12438G>A (p.Lys4146=) n.3681G>A c.12540G>A (p.Lys4180=) c.12537G>A (p.Lys4179=) c.12516G>A (p.Lys4172=) c.12510G>A (p.Lys4170=) c.12504G>A (p.Lys4168=) c.12480G>A (p.Lys4160=) c.12303G>A (p.Lys4101=) c.12447G>A (p.Lys4149=) c.12519G>A (p.Lys4173=) | gnomAD v4 |
| 1 | g.237784198G>C | CA345413448 | RYR2 | c.*3578G>C (n.*3578G>C) c.12474G>C (p.Lys4158Asn) c.12507G>C (p.Lys4169Asn) c.4663G>C c.12486G>C (p.Lys4162Asn) c.2539G>C c.12438G>C (p.Lys4146Asn) n.3681G>C c.12540G>C (p.Lys4180Asn) c.12537G>C (p.Lys4179Asn) c.12516G>C (p.Lys4172Asn) c.12510G>C (p.Lys4170Asn) c.12504G>C (p.Lys4168Asn) c.12480G>C (p.Lys4160Asn) c.12303G>C (p.Lys4101Asn) c.12447G>C (p.Lys4149Asn) c.12519G>C (p.Lys4173Asn) | |
| 1 | g.237784198G>T | CA345413447 | RYR2 | c.*3578G>T (n.*3578G>T) c.12474G>T (p.Lys4158Asn) c.12507G>T (p.Lys4169Asn) c.4663G>T c.12486G>T (p.Lys4162Asn) c.2539G>T c.12438G>T (p.Lys4146Asn) n.3681G>T c.12540G>T (p.Lys4180Asn) c.12537G>T (p.Lys4179Asn) c.12516G>T (p.Lys4172Asn) c.12510G>T (p.Lys4170Asn) c.12504G>T (p.Lys4168Asn) c.12480G>T (p.Lys4160Asn) c.12303G>T (p.Lys4101Asn) c.12447G>T (p.Lys4149Asn) c.12519G>T (p.Lys4173Asn) | |
| 1 | g.237784199C>A | CA345413449 | RYR2 | c.*3579C>A (n.*3579C>A) c.12475C>A (p.Pro4159Thr) c.12508C>A (p.Pro4170Thr) c.4664C>A c.12487C>A (p.Pro4163Thr) c.2540C>A c.12439C>A (p.Pro4147Thr) n.3682C>A c.12541C>A (p.Pro4181Thr) c.12538C>A (p.Pro4180Thr) c.12517C>A (p.Pro4173Thr) c.12511C>A (p.Pro4171Thr) c.12505C>A (p.Pro4169Thr) c.12481C>A (p.Pro4161Thr) c.12304C>A (p.Pro4102Thr) c.12448C>A (p.Pro4150Thr) c.12520C>A (p.Pro4174Thr) | dbSNP |
| 1 | g.237784199C= | CA2487482425 | RYR2 | c.*3579C= (n.*3579C=) c.12475C= (p.Pro4159=) c.12508C= (p.Pro4170=) c.4664C= c.12487C= (p.Pro4163=) c.2540C= c.12439C= (p.Pro4147=) n.3682C= c.12541C= (p.Pro4181=) c.12538C= (p.Pro4180=) c.12517C= (p.Pro4173=) c.12511C= (p.Pro4171=) c.12505C= (p.Pro4169=) c.12481C= (p.Pro4161=) c.12304C= (p.Pro4102=) c.12448C= (p.Pro4150=) c.12520C= (p.Pro4174=) | |
| 1 | g.237784199C>G | CA345413450 | RYR2 | c.*3579C>G (n.*3579C>G) c.12475C>G (p.Pro4159Ala) c.12508C>G (p.Pro4170Ala) c.4664C>G c.12487C>G (p.Pro4163Ala) c.2540C>G c.12439C>G (p.Pro4147Ala) n.3682C>G c.12541C>G (p.Pro4181Ala) c.12538C>G (p.Pro4180Ala) c.12517C>G (p.Pro4173Ala) c.12511C>G (p.Pro4171Ala) c.12505C>G (p.Pro4169Ala) c.12481C>G (p.Pro4161Ala) c.12304C>G (p.Pro4102Ala) c.12448C>G (p.Pro4150Ala) c.12520C>G (p.Pro4174Ala) | ClinVar |
| 1 | g.237784199C>T | CA345413451 | RYR2 | c.*3579C>T (n.*3579C>T) c.12475C>T (p.Pro4159Ser) c.12508C>T (p.Pro4170Ser) c.4664C>T c.12487C>T (p.Pro4163Ser) c.2540C>T c.12439C>T (p.Pro4147Ser) n.3682C>T c.12541C>T (p.Pro4181Ser) c.12538C>T (p.Pro4180Ser) c.12517C>T (p.Pro4173Ser) c.12511C>T (p.Pro4171Ser) c.12505C>T (p.Pro4169Ser) c.12481C>T (p.Pro4161Ser) c.12304C>T (p.Pro4102Ser) c.12448C>T (p.Pro4150Ser) c.12520C>T (p.Pro4174Ser) | |
| 1 | g.237784200C>A | CA345413452 | RYR2 | c.*3580C>A (n.*3580C>A) c.12476C>A (p.Pro4159His) c.12509C>A (p.Pro4170His) c.4665C>A c.12488C>A (p.Pro4163His) c.2541C>A c.12440C>A (p.Pro4147His) n.3683C>A c.12542C>A (p.Pro4181His) c.12539C>A (p.Pro4180His) c.12518C>A (p.Pro4173His) c.12512C>A (p.Pro4171His) c.12506C>A (p.Pro4169His) c.12482C>A (p.Pro4161His) c.12305C>A (p.Pro4102His) c.12449C>A (p.Pro4150His) c.12521C>A (p.Pro4174His) | |
| 1 | g.237784200C>G | CA345413453 | RYR2 | c.*3580C>G (n.*3580C>G) c.12476C>G (p.Pro4159Arg) c.12509C>G (p.Pro4170Arg) c.4665C>G c.12488C>G (p.Pro4163Arg) c.2541C>G c.12440C>G (p.Pro4147Arg) n.3683C>G c.12542C>G (p.Pro4181Arg) c.12539C>G (p.Pro4180Arg) c.12518C>G (p.Pro4173Arg) c.12512C>G (p.Pro4171Arg) c.12506C>G (p.Pro4169Arg) c.12482C>G (p.Pro4161Arg) c.12305C>G (p.Pro4102Arg) c.12449C>G (p.Pro4150Arg) c.12521C>G (p.Pro4174Arg) | |
| 1 | g.237784200C>T | CA345413454 | RYR2 | c.*3580C>T (n.*3580C>T) c.12476C>T (p.Pro4159Leu) c.12509C>T (p.Pro4170Leu) c.4665C>T c.12488C>T (p.Pro4163Leu) c.2541C>T c.12440C>T (p.Pro4147Leu) n.3683C>T c.12542C>T (p.Pro4181Leu) c.12539C>T (p.Pro4180Leu) c.12518C>T (p.Pro4173Leu) c.12512C>T (p.Pro4171Leu) c.12506C>T (p.Pro4169Leu) c.12482C>T (p.Pro4161Leu) c.12305C>T (p.Pro4102Leu) c.12449C>T (p.Pro4150Leu) c.12521C>T (p.Pro4174Leu) | COSMIC COSMIC |
| 1 | g.237784201C>A | CA424032254 | RYR2 | c.*3581C>A (n.*3581C>A) c.12477C>A (p.Pro4159=) c.12510C>A (p.Pro4170=) c.4666C>A c.12489C>A (p.Pro4163=) c.2542C>A c.12441C>A (p.Pro4147=) n.3684C>A c.12543C>A (p.Pro4181=) c.12540C>A (p.Pro4180=) c.12519C>A (p.Pro4173=) c.12513C>A (p.Pro4171=) c.12507C>A (p.Pro4169=) c.12483C>A (p.Pro4161=) c.12306C>A (p.Pro4102=) c.12450C>A (p.Pro4150=) c.12522C>A (p.Pro4174=) | |
| 1 | g.237784201C= | CA2487482426 | RYR2 | c.*3581C= (n.*3581C=) c.12477C= (p.Pro4159=) c.12510C= (p.Pro4170=) c.4666C= c.12489C= (p.Pro4163=) c.2542C= c.12441C= (p.Pro4147=) n.3684C= c.12543C= (p.Pro4181=) c.12540C= (p.Pro4180=) c.12519C= (p.Pro4173=) c.12513C= (p.Pro4171=) c.12507C= (p.Pro4169=) c.12483C= (p.Pro4161=) c.12306C= (p.Pro4102=) c.12450C= (p.Pro4150=) c.12522C= (p.Pro4174=) | |
| 1 | g.237784201C>G | CA424032253 | RYR2 | c.*3581C>G (n.*3581C>G) c.12477C>G (p.Pro4159=) c.12510C>G (p.Pro4170=) c.4666C>G c.12489C>G (p.Pro4163=) c.2542C>G c.12441C>G (p.Pro4147=) n.3684C>G c.12543C>G (p.Pro4181=) c.12540C>G (p.Pro4180=) c.12519C>G (p.Pro4173=) c.12513C>G (p.Pro4171=) c.12507C>G (p.Pro4169=) c.12483C>G (p.Pro4161=) c.12306C>G (p.Pro4102=) c.12450C>G (p.Pro4150=) c.12522C>G (p.Pro4174=) | |
| 1 | g.237784201C>T | CA085188 | RYR2 | c.*3581C>T (n.*3581C>T) c.12477C>T (p.Pro4159=) c.12510C>T (p.Pro4170=) c.4666C>T c.12489C>T (p.Pro4163=) c.2542C>T c.12441C>T (p.Pro4147=) n.3684C>T c.12543C>T (p.Pro4181=) c.12540C>T (p.Pro4180=) c.12519C>T (p.Pro4173=) c.12513C>T (p.Pro4171=) c.12507C>T (p.Pro4169=) c.12483C>T (p.Pro4161=) c.12306C>T (p.Pro4102=) c.12450C>T (p.Pro4150=) c.12522C>T (p.Pro4174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784202C>A | CA345413458 | RYR2 | c.*3582C>A (n.*3582C>A) c.12478C>A (p.Gln4160Lys) c.12511C>A (p.Gln4171Lys) c.4667C>A c.12490C>A (p.Gln4164Lys) c.2543C>A c.12442C>A (p.Gln4148Lys) n.3685C>A c.12544C>A (p.Gln4182Lys) c.12541C>A (p.Gln4181Lys) c.12520C>A (p.Gln4174Lys) c.12514C>A (p.Gln4172Lys) c.12508C>A (p.Gln4170Lys) c.12484C>A (p.Gln4162Lys) c.12307C>A (p.Gln4103Lys) c.12451C>A (p.Gln4151Lys) c.12523C>A (p.Gln4175Lys) | |
| 1 | g.237784202C>G | CA345413459 | RYR2 | c.*3582C>G (n.*3582C>G) c.12478C>G (p.Gln4160Glu) c.12511C>G (p.Gln4171Glu) c.4667C>G c.12490C>G (p.Gln4164Glu) c.2543C>G c.12442C>G (p.Gln4148Glu) n.3685C>G c.12544C>G (p.Gln4182Glu) c.12541C>G (p.Gln4181Glu) c.12520C>G (p.Gln4174Glu) c.12514C>G (p.Gln4172Glu) c.12508C>G (p.Gln4170Glu) c.12484C>G (p.Gln4162Glu) c.12307C>G (p.Gln4103Glu) c.12451C>G (p.Gln4151Glu) c.12523C>G (p.Gln4175Glu) | |
| 1 | g.237784202C>T | CA345413460 | RYR2 | c.*3582C>T (n.*3582C>T) c.12478C>T (p.Gln4160Ter) c.12511C>T (p.Gln4171Ter) c.4667C>T c.12490C>T (p.Gln4164Ter) c.2543C>T c.12442C>T (p.Gln4148Ter) n.3685C>T c.12544C>T (p.Gln4182Ter) c.12541C>T (p.Gln4181Ter) c.12520C>T (p.Gln4174Ter) c.12514C>T (p.Gln4172Ter) c.12508C>T (p.Gln4170Ter) c.12484C>T (p.Gln4162Ter) c.12307C>T (p.Gln4103Ter) c.12451C>T (p.Gln4151Ter) c.12523C>T (p.Gln4175Ter) | |
| 1 | g.237784203A>C | CA345413461 | RYR2 | c.*3583A>C (n.*3583A>C) c.12479A>C (p.Gln4160Pro) c.12512A>C (p.Gln4171Pro) c.4668A>C c.12491A>C (p.Gln4164Pro) c.2544A>C c.12443A>C (p.Gln4148Pro) n.3686A>C c.12545A>C (p.Gln4182Pro) c.12542A>C (p.Gln4181Pro) c.12521A>C (p.Gln4174Pro) c.12515A>C (p.Gln4172Pro) c.12509A>C (p.Gln4170Pro) c.12485A>C (p.Gln4162Pro) c.12308A>C (p.Gln4103Pro) c.12452A>C (p.Gln4151Pro) c.12524A>C (p.Gln4175Pro) | |
| 1 | g.237784203A>G | CA345413462 | RYR2 | c.*3583A>G (n.*3583A>G) c.12479A>G (p.Gln4160Arg) c.12512A>G (p.Gln4171Arg) c.4668A>G c.12491A>G (p.Gln4164Arg) c.2544A>G c.12443A>G (p.Gln4148Arg) n.3686A>G c.12545A>G (p.Gln4182Arg) c.12542A>G (p.Gln4181Arg) c.12521A>G (p.Gln4174Arg) c.12515A>G (p.Gln4172Arg) c.12509A>G (p.Gln4170Arg) c.12485A>G (p.Gln4162Arg) c.12308A>G (p.Gln4103Arg) c.12452A>G (p.Gln4151Arg) c.12524A>G (p.Gln4175Arg) | |
| 1 | g.237784203A>T | CA345413463 | RYR2 | c.*3583A>T (n.*3583A>T) c.12479A>T (p.Gln4160Leu) c.12512A>T (p.Gln4171Leu) c.4668A>T c.12491A>T (p.Gln4164Leu) c.2544A>T c.12443A>T (p.Gln4148Leu) n.3686A>T c.12545A>T (p.Gln4182Leu) c.12542A>T (p.Gln4181Leu) c.12521A>T (p.Gln4174Leu) c.12515A>T (p.Gln4172Leu) c.12509A>T (p.Gln4170Leu) c.12485A>T (p.Gln4162Leu) c.12308A>T (p.Gln4103Leu) c.12452A>T (p.Gln4151Leu) c.12524A>T (p.Gln4175Leu) | |
| 1 | g.237784204G>A | CA007543 | RYR2 | c.*3584G>A (n.*3584G>A) c.12480G>A (p.Gln4160=) c.12513G>A (p.Gln4171=) c.4669G>A c.12492G>A (p.Gln4164=) c.2545G>A c.12444G>A (p.Gln4148=) n.3687G>A c.12546G>A (p.Gln4182=) c.12543G>A (p.Gln4181=) c.12522G>A (p.Gln4174=) c.12516G>A (p.Gln4172=) c.12510G>A (p.Gln4170=) c.12486G>A (p.Gln4162=) c.12309G>A (p.Gln4103=) c.12453G>A (p.Gln4151=) c.12525G>A (p.Gln4175=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.237784204G>C | CA345413464 | RYR2 | c.*3584G>C (n.*3584G>C) c.12480G>C (p.Gln4160His) c.12513G>C (p.Gln4171His) c.4669G>C c.12492G>C (p.Gln4164His) c.2545G>C c.12444G>C (p.Gln4148His) n.3687G>C c.12546G>C (p.Gln4182His) c.12543G>C (p.Gln4181His) c.12522G>C (p.Gln4174His) c.12516G>C (p.Gln4172His) c.12510G>C (p.Gln4170His) c.12486G>C (p.Gln4162His) c.12309G>C (p.Gln4103His) c.12453G>C (p.Gln4151His) c.12525G>C (p.Gln4175His) | |
| 1 | g.237784204G= | CA1144183738 | RYR2 | c.*3584G= (n.*3584G=) c.12480G= (p.Gln4160=) c.12513G= (p.Gln4171=) c.4669G= c.12492G= (p.Gln4164=) c.2545G= c.12444G= (p.Gln4148=) n.3687G= c.12546G= (p.Gln4182=) c.12543G= (p.Gln4181=) c.12522G= (p.Gln4174=) c.12516G= (p.Gln4172=) c.12510G= (p.Gln4170=) c.12486G= (p.Gln4162=) c.12309G= (p.Gln4103=) c.12453G= (p.Gln4151=) c.12525G= (p.Gln4175=) | |
| 1 | g.237784204G>T | CA345413465 | RYR2 | c.*3584G>T (n.*3584G>T) c.12480G>T (p.Gln4160His) c.12513G>T (p.Gln4171His) c.4669G>T c.12492G>T (p.Gln4164His) c.2545G>T c.12444G>T (p.Gln4148His) n.3687G>T c.12546G>T (p.Gln4182His) c.12543G>T (p.Gln4181His) c.12522G>T (p.Gln4174His) c.12516G>T (p.Gln4172His) c.12510G>T (p.Gln4170His) c.12486G>T (p.Gln4162His) c.12309G>T (p.Gln4103His) c.12453G>T (p.Gln4151His) c.12525G>T (p.Gln4175His) | COSMIC COSMIC |
| 1 | g.237784205G>A | CA345413466 | RYR2 | c.*3585G>A (n.*3585G>A) c.12481G>A (p.Val4161Ile) c.12514G>A (p.Val4172Ile) c.4670G>A c.12493G>A (p.Val4165Ile) c.2546G>A c.12445G>A (p.Val4149Ile) n.3688G>A c.12547G>A (p.Val4183Ile) c.12544G>A (p.Val4182Ile) c.12523G>A (p.Val4175Ile) c.12517G>A (p.Val4173Ile) c.12511G>A (p.Val4171Ile) c.12487G>A (p.Val4163Ile) c.12310G>A (p.Val4104Ile) c.12454G>A (p.Val4152Ile) c.12526G>A (p.Val4176Ile) | |
| 1 | g.237784205G>C | CA345413467 | RYR2 | c.*3585G>C (n.*3585G>C) c.12481G>C (p.Val4161Leu) c.12514G>C (p.Val4172Leu) c.4670G>C c.12493G>C (p.Val4165Leu) c.2546G>C c.12445G>C (p.Val4149Leu) n.3688G>C c.12547G>C (p.Val4183Leu) c.12544G>C (p.Val4182Leu) c.12523G>C (p.Val4175Leu) c.12517G>C (p.Val4173Leu) c.12511G>C (p.Val4171Leu) c.12487G>C (p.Val4163Leu) c.12310G>C (p.Val4104Leu) c.12454G>C (p.Val4152Leu) c.12526G>C (p.Val4176Leu) | |
| 1 | g.237784205G>T | CA345413468 | RYR2 | c.*3585G>T (n.*3585G>T) c.12481G>T (p.Val4161Phe) c.12514G>T (p.Val4172Phe) c.4670G>T c.12493G>T (p.Val4165Phe) c.2546G>T c.12445G>T (p.Val4149Phe) n.3688G>T c.12547G>T (p.Val4183Phe) c.12544G>T (p.Val4182Phe) c.12523G>T (p.Val4175Phe) c.12517G>T (p.Val4173Phe) c.12511G>T (p.Val4171Phe) c.12487G>T (p.Val4163Phe) c.12310G>T (p.Val4104Phe) c.12454G>T (p.Val4152Phe) c.12526G>T (p.Val4176Phe) | |
| 1 | g.237784206T>A | CA345413469 | RYR2 | c.*3586T>A (n.*3586T>A) c.12482T>A (p.Val4161Asp) c.12515T>A (p.Val4172Asp) c.4671T>A c.12494T>A (p.Val4165Asp) c.2547T>A c.12446T>A (p.Val4149Asp) n.3689T>A c.12548T>A (p.Val4183Asp) c.12545T>A (p.Val4182Asp) c.12524T>A (p.Val4175Asp) c.12518T>A (p.Val4173Asp) c.12512T>A (p.Val4171Asp) c.12488T>A (p.Val4163Asp) c.12311T>A (p.Val4104Asp) c.12455T>A (p.Val4152Asp) c.12527T>A (p.Val4176Asp) | |
| 1 | g.237784206T>C | CA345413470 | RYR2 | c.*3586T>C (n.*3586T>C) c.12482T>C (p.Val4161Ala) c.12515T>C (p.Val4172Ala) c.4671T>C c.12494T>C (p.Val4165Ala) c.2547T>C c.12446T>C (p.Val4149Ala) n.3689T>C c.12548T>C (p.Val4183Ala) c.12545T>C (p.Val4182Ala) c.12524T>C (p.Val4175Ala) c.12518T>C (p.Val4173Ala) c.12512T>C (p.Val4171Ala) c.12488T>C (p.Val4163Ala) c.12311T>C (p.Val4104Ala) c.12455T>C (p.Val4152Ala) c.12527T>C (p.Val4176Ala) | ClinVar |
| 1 | g.237784206T>G | CA345413471 | RYR2 | c.*3586T>G (n.*3586T>G) c.12482T>G (p.Val4161Gly) c.12515T>G (p.Val4172Gly) c.4671T>G c.12494T>G (p.Val4165Gly) c.2547T>G c.12446T>G (p.Val4149Gly) n.3689T>G c.12548T>G (p.Val4183Gly) c.12545T>G (p.Val4182Gly) c.12524T>G (p.Val4175Gly) c.12518T>G (p.Val4173Gly) c.12512T>G (p.Val4171Gly) c.12488T>G (p.Val4163Gly) c.12311T>G (p.Val4104Gly) c.12455T>G (p.Val4152Gly) c.12527T>G (p.Val4176Gly) | |
| 1 | g.237784207C>A | CA424032260 | RYR2 | c.*3587C>A (n.*3587C>A) c.12483C>A (p.Val4161=) c.12516C>A (p.Val4172=) c.4672C>A c.12495C>A (p.Val4165=) c.2548C>A c.12447C>A (p.Val4149=) n.3690C>A c.12549C>A (p.Val4183=) c.12546C>A (p.Val4182=) c.12525C>A (p.Val4175=) c.12519C>A (p.Val4173=) c.12513C>A (p.Val4171=) c.12489C>A (p.Val4163=) c.12312C>A (p.Val4104=) c.12456C>A (p.Val4152=) c.12528C>A (p.Val4176=) | |
| 1 | g.237784207C>G | CA424032262 | RYR2 | c.*3587C>G (n.*3587C>G) c.12483C>G (p.Val4161=) c.12516C>G (p.Val4172=) c.4672C>G c.12495C>G (p.Val4165=) c.2548C>G c.12447C>G (p.Val4149=) n.3690C>G c.12549C>G (p.Val4183=) c.12546C>G (p.Val4182=) c.12525C>G (p.Val4175=) c.12519C>G (p.Val4173=) c.12513C>G (p.Val4171=) c.12489C>G (p.Val4163=) c.12312C>G (p.Val4104=) c.12456C>G (p.Val4152=) c.12528C>G (p.Val4176=) | COSMIC |
| 1 | g.237784207C>T | CA424032261 | RYR2 | c.*3587C>T (n.*3587C>T) c.12483C>T (p.Val4161=) c.12516C>T (p.Val4172=) c.4672C>T c.12495C>T (p.Val4165=) c.2548C>T c.12447C>T (p.Val4149=) n.3690C>T c.12549C>T (p.Val4183=) c.12546C>T (p.Val4182=) c.12525C>T (p.Val4175=) c.12519C>T (p.Val4173=) c.12513C>T (p.Val4171=) c.12489C>T (p.Val4163=) c.12312C>T (p.Val4104=) c.12456C>T (p.Val4152=) c.12528C>T (p.Val4176=) | |
| 1 | g.237784208A>C | CA345413472 | RYR2 | c.*3588A>C (n.*3588A>C) c.12484A>C (p.Lys4162Gln) c.12517A>C (p.Lys4173Gln) c.4673A>C c.12496A>C (p.Lys4166Gln) c.2549A>C c.12448A>C (p.Lys4150Gln) n.3691A>C c.12550A>C (p.Lys4184Gln) c.12547A>C (p.Lys4183Gln) c.12526A>C (p.Lys4176Gln) c.12520A>C (p.Lys4174Gln) c.12514A>C (p.Lys4172Gln) c.12490A>C (p.Lys4164Gln) c.12313A>C (p.Lys4105Gln) c.12457A>C (p.Lys4153Gln) c.12529A>C (p.Lys4177Gln) | |
| 1 | g.237784208A>G | CA345413473 | RYR2 | c.*3588A>G (n.*3588A>G) c.12484A>G (p.Lys4162Glu) c.12517A>G (p.Lys4173Glu) c.4673A>G c.12496A>G (p.Lys4166Glu) c.2549A>G c.12448A>G (p.Lys4150Glu) n.3691A>G c.12550A>G (p.Lys4184Glu) c.12547A>G (p.Lys4183Glu) c.12526A>G (p.Lys4176Glu) c.12520A>G (p.Lys4174Glu) c.12514A>G (p.Lys4172Glu) c.12490A>G (p.Lys4164Glu) c.12313A>G (p.Lys4105Glu) c.12457A>G (p.Lys4153Glu) c.12529A>G (p.Lys4177Glu) | |
| 1 | g.237784208A>T | CA345413474 | RYR2 | c.*3588A>T (n.*3588A>T) c.12484A>T (p.Lys4162Ter) c.12517A>T (p.Lys4173Ter) c.4673A>T c.12496A>T (p.Lys4166Ter) c.2549A>T c.12448A>T (p.Lys4150Ter) n.3691A>T c.12550A>T (p.Lys4184Ter) c.12547A>T (p.Lys4183Ter) c.12526A>T (p.Lys4176Ter) c.12520A>T (p.Lys4174Ter) c.12514A>T (p.Lys4172Ter) c.12490A>T (p.Lys4164Ter) c.12313A>T (p.Lys4105Ter) c.12457A>T (p.Lys4153Ter) c.12529A>T (p.Lys4177Ter) | |
| 1 | g.237784209A= | CA2487482427 | RYR2 | c.*3589A= (n.*3589A=) c.12485A= (p.Lys4162=) c.12518A= (p.Lys4173=) c.4674A= c.12497A= (p.Lys4166=) c.2550A= c.12449A= (p.Lys4150=) n.3692A= c.12551A= (p.Lys4184=) c.12548A= (p.Lys4183=) c.12527A= (p.Lys4176=) c.12521A= (p.Lys4174=) c.12515A= (p.Lys4172=) c.12491A= (p.Lys4164=) c.12314A= (p.Lys4105=) c.12458A= (p.Lys4153=) c.12530A= (p.Lys4177=) | |
| 1 | g.237784209A>C | CA345413475 | RYR2 | c.*3589A>C (n.*3589A>C) c.12485A>C (p.Lys4162Thr) c.12518A>C (p.Lys4173Thr) c.4674A>C c.12497A>C (p.Lys4166Thr) c.2550A>C c.12449A>C (p.Lys4150Thr) n.3692A>C c.12551A>C (p.Lys4184Thr) c.12548A>C (p.Lys4183Thr) c.12527A>C (p.Lys4176Thr) c.12521A>C (p.Lys4174Thr) c.12515A>C (p.Lys4172Thr) c.12491A>C (p.Lys4164Thr) c.12314A>C (p.Lys4105Thr) c.12458A>C (p.Lys4153Thr) c.12530A>C (p.Lys4177Thr) | |
| 1 | g.237784209A>G | CA345413476 | RYR2 | c.*3589A>G (n.*3589A>G) c.12485A>G (p.Lys4162Arg) c.12518A>G (p.Lys4173Arg) c.4674A>G c.12497A>G (p.Lys4166Arg) c.2550A>G c.12449A>G (p.Lys4150Arg) n.3692A>G c.12551A>G (p.Lys4184Arg) c.12548A>G (p.Lys4183Arg) c.12527A>G (p.Lys4176Arg) c.12521A>G (p.Lys4174Arg) c.12515A>G (p.Lys4172Arg) c.12491A>G (p.Lys4164Arg) c.12314A>G (p.Lys4105Arg) c.12458A>G (p.Lys4153Arg) c.12530A>G (p.Lys4177Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237784209A>T | CA345413477 | RYR2 | c.*3589A>T (n.*3589A>T) c.12485A>T (p.Lys4162Met) c.12518A>T (p.Lys4173Met) c.4674A>T c.12497A>T (p.Lys4166Met) c.2550A>T c.12449A>T (p.Lys4150Met) n.3692A>T c.12551A>T (p.Lys4184Met) c.12548A>T (p.Lys4183Met) c.12527A>T (p.Lys4176Met) c.12521A>T (p.Lys4174Met) c.12515A>T (p.Lys4172Met) c.12491A>T (p.Lys4164Met) c.12314A>T (p.Lys4105Met) c.12458A>T (p.Lys4153Met) c.12530A>T (p.Lys4177Met) | |
| 1 | g.237784210G>A | CA085190 | RYR2 | c.*3590G>A (n.*3590G>A) c.12486G>A (p.Lys4162=) c.12519G>A (p.Lys4173=) c.4675G>A c.12498G>A (p.Lys4166=) c.2551G>A c.12450G>A (p.Lys4150=) n.3693G>A c.12552G>A (p.Lys4184=) c.12549G>A (p.Lys4183=) c.12528G>A (p.Lys4176=) c.12522G>A (p.Lys4174=) c.12516G>A (p.Lys4172=) c.12492G>A (p.Lys4164=) c.12315G>A (p.Lys4105=) c.12459G>A (p.Lys4153=) c.12531G>A (p.Lys4177=) | dbSNP ExAC |
| 1 | g.237784210G>C | CA345413479 | RYR2 | c.*3590G>C (n.*3590G>C) c.12486G>C (p.Lys4162Asn) c.12519G>C (p.Lys4173Asn) c.4675G>C c.12498G>C (p.Lys4166Asn) c.2551G>C c.12450G>C (p.Lys4150Asn) n.3693G>C c.12552G>C (p.Lys4184Asn) c.12549G>C (p.Lys4183Asn) c.12528G>C (p.Lys4176Asn) c.12522G>C (p.Lys4174Asn) c.12516G>C (p.Lys4172Asn) c.12492G>C (p.Lys4164Asn) c.12315G>C (p.Lys4105Asn) c.12459G>C (p.Lys4153Asn) c.12531G>C (p.Lys4177Asn) | |
| 1 | g.237784210G= | CA2487482428 | RYR2 | c.*3590G= (n.*3590G=) c.12486G= (p.Lys4162=) c.12519G= (p.Lys4173=) c.4675G= c.12498G= (p.Lys4166=) c.2551G= c.12450G= (p.Lys4150=) n.3693G= c.12552G= (p.Lys4184=) c.12549G= (p.Lys4183=) c.12528G= (p.Lys4176=) c.12522G= (p.Lys4174=) c.12516G= (p.Lys4172=) c.12492G= (p.Lys4164=) c.12315G= (p.Lys4105=) c.12459G= (p.Lys4153=) c.12531G= (p.Lys4177=) | |
| 1 | g.237784210G>T | CA345413478 | RYR2 | c.*3590G>T (n.*3590G>T) c.12486G>T (p.Lys4162Asn) c.12519G>T (p.Lys4173Asn) c.4675G>T c.12498G>T (p.Lys4166Asn) c.2551G>T c.12450G>T (p.Lys4150Asn) n.3693G>T c.12552G>T (p.Lys4184Asn) c.12549G>T (p.Lys4183Asn) c.12528G>T (p.Lys4176Asn) c.12522G>T (p.Lys4174Asn) c.12516G>T (p.Lys4172Asn) c.12492G>T (p.Lys4164Asn) c.12315G>T (p.Lys4105Asn) c.12459G>T (p.Lys4153Asn) c.12531G>T (p.Lys4177Asn) | |
| 1 | g.237784211G>A | CA345413480 | RYR2 | c.*3591G>A (n.*3591G>A) c.12487G>A (p.Glu4163Lys) c.12520G>A (p.Glu4174Lys) c.4676G>A c.12499G>A (p.Glu4167Lys) c.2552G>A c.12451G>A (p.Glu4151Lys) n.3694G>A c.12553G>A (p.Glu4185Lys) c.12550G>A (p.Glu4184Lys) c.12529G>A (p.Glu4177Lys) c.12523G>A (p.Glu4175Lys) c.12517G>A (p.Glu4173Lys) c.12493G>A (p.Glu4165Lys) c.12316G>A (p.Glu4106Lys) c.12460G>A (p.Glu4154Lys) c.12532G>A (p.Glu4178Lys) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.237784211G>C | CA345413482 | RYR2 | c.*3591G>C (n.*3591G>C) c.12487G>C (p.Glu4163Gln) c.12520G>C (p.Glu4174Gln) c.4676G>C c.12499G>C (p.Glu4167Gln) c.2552G>C c.12451G>C (p.Glu4151Gln) n.3694G>C c.12553G>C (p.Glu4185Gln) c.12550G>C (p.Glu4184Gln) c.12529G>C (p.Glu4177Gln) c.12523G>C (p.Glu4175Gln) c.12517G>C (p.Glu4173Gln) c.12493G>C (p.Glu4165Gln) c.12316G>C (p.Glu4106Gln) c.12460G>C (p.Glu4154Gln) c.12532G>C (p.Glu4178Gln) | |
| 1 | g.237784211G= | CA2487482429 | RYR2 | c.*3591G= (n.*3591G=) c.12487G= (p.Glu4163=) c.12520G= (p.Glu4174=) c.4676G= c.12499G= (p.Glu4167=) c.2552G= c.12451G= (p.Glu4151=) n.3694G= c.12553G= (p.Glu4185=) c.12550G= (p.Glu4184=) c.12529G= (p.Glu4177=) c.12523G= (p.Glu4175=) c.12517G= (p.Glu4173=) c.12493G= (p.Glu4165=) c.12316G= (p.Glu4106=) c.12460G= (p.Glu4154=) c.12532G= (p.Glu4178=) | |
| 1 | g.237784211G>T | CA345413481 | RYR2 | c.*3591G>T (n.*3591G>T) c.12487G>T (p.Glu4163Ter) c.12520G>T (p.Glu4174Ter) c.4676G>T c.12499G>T (p.Glu4167Ter) c.2552G>T c.12451G>T (p.Glu4151Ter) n.3694G>T c.12553G>T (p.Glu4185Ter) c.12550G>T (p.Glu4184Ter) c.12529G>T (p.Glu4177Ter) c.12523G>T (p.Glu4175Ter) c.12517G>T (p.Glu4173Ter) c.12493G>T (p.Glu4165Ter) c.12316G>T (p.Glu4106Ter) c.12460G>T (p.Glu4154Ter) c.12532G>T (p.Glu4178Ter) | gnomAD v4 |
| 1 | g.237784212A>C | CA345413483 | RYR2 | c.*3592A>C (n.*3592A>C) c.12488A>C (p.Glu4163Ala) c.12521A>C (p.Glu4174Ala) c.4677A>C c.12500A>C (p.Glu4167Ala) c.2553A>C c.12452A>C (p.Glu4151Ala) n.3695A>C c.12554A>C (p.Glu4185Ala) c.12551A>C (p.Glu4184Ala) c.12530A>C (p.Glu4177Ala) c.12524A>C (p.Glu4175Ala) c.12518A>C (p.Glu4173Ala) c.12494A>C (p.Glu4165Ala) c.12317A>C (p.Glu4106Ala) c.12461A>C (p.Glu4154Ala) c.12533A>C (p.Glu4178Ala) | |
| 1 | g.237784212A>G | CA345413484 | RYR2 | c.*3592A>G (n.*3592A>G) c.12488A>G (p.Glu4163Gly) c.12521A>G (p.Glu4174Gly) c.4677A>G c.12500A>G (p.Glu4167Gly) c.2553A>G c.12452A>G (p.Glu4151Gly) n.3695A>G c.12554A>G (p.Glu4185Gly) c.12551A>G (p.Glu4184Gly) c.12530A>G (p.Glu4177Gly) c.12524A>G (p.Glu4175Gly) c.12518A>G (p.Glu4173Gly) c.12494A>G (p.Glu4165Gly) c.12317A>G (p.Glu4106Gly) c.12461A>G (p.Glu4154Gly) c.12533A>G (p.Glu4178Gly) | |
| 1 | g.237784212A>T | CA345413485 | RYR2 | c.*3592A>T (n.*3592A>T) c.12488A>T (p.Glu4163Val) c.12521A>T (p.Glu4174Val) c.4677A>T c.12500A>T (p.Glu4167Val) c.2553A>T c.12452A>T (p.Glu4151Val) n.3695A>T c.12554A>T (p.Glu4185Val) c.12551A>T (p.Glu4184Val) c.12530A>T (p.Glu4177Val) c.12524A>T (p.Glu4175Val) c.12518A>T (p.Glu4173Val) c.12494A>T (p.Glu4165Val) c.12317A>T (p.Glu4106Val) c.12461A>T (p.Glu4154Val) c.12533A>T (p.Glu4178Val) | |
| 1 | g.237784213G>A | CA424032265 | RYR2 | c.*3593G>A (n.*3593G>A) c.12489G>A (p.Glu4163=) c.12522G>A (p.Glu4174=) c.4678G>A c.12501G>A (p.Glu4167=) c.2554G>A c.12453G>A (p.Glu4151=) n.3696G>A c.12555G>A (p.Glu4185=) c.12552G>A (p.Glu4184=) c.12531G>A (p.Glu4177=) c.12525G>A (p.Glu4175=) c.12519G>A (p.Glu4173=) c.12495G>A (p.Glu4165=) c.12318G>A (p.Glu4106=) c.12462G>A (p.Glu4154=) c.12534G>A (p.Glu4178=) | gnomAD v4 |
| 1 | g.237784213G>C | CA345413486 | RYR2 | c.*3593G>C (n.*3593G>C) c.12489G>C (p.Glu4163Asp) c.12522G>C (p.Glu4174Asp) c.4678G>C c.12501G>C (p.Glu4167Asp) c.2554G>C c.12453G>C (p.Glu4151Asp) n.3696G>C c.12555G>C (p.Glu4185Asp) c.12552G>C (p.Glu4184Asp) c.12531G>C (p.Glu4177Asp) c.12525G>C (p.Glu4175Asp) c.12519G>C (p.Glu4173Asp) c.12495G>C (p.Glu4165Asp) c.12318G>C (p.Glu4106Asp) c.12462G>C (p.Glu4154Asp) c.12534G>C (p.Glu4178Asp) | |
| 1 | g.237784213G>T | CA345413487 | RYR2 | c.*3593G>T (n.*3593G>T) c.12489G>T (p.Glu4163Asp) c.12522G>T (p.Glu4174Asp) c.4678G>T c.12501G>T (p.Glu4167Asp) c.2554G>T c.12453G>T (p.Glu4151Asp) n.3696G>T c.12555G>T (p.Glu4185Asp) c.12552G>T (p.Glu4184Asp) c.12531G>T (p.Glu4177Asp) c.12525G>T (p.Glu4175Asp) c.12519G>T (p.Glu4173Asp) c.12495G>T (p.Glu4165Asp) c.12318G>T (p.Glu4106Asp) c.12462G>T (p.Glu4154Asp) c.12534G>T (p.Glu4178Asp) | |
| 1 | g.237784214T>A | CA345413488 | RYR2 | c.*3594T>A (n.*3594T>A) c.12490T>A (p.Ser4164Thr) c.12523T>A (p.Ser4175Thr) c.4679T>A c.12502T>A (p.Ser4168Thr) c.2555T>A c.12454T>A (p.Ser4152Thr) n.3697T>A c.12556T>A (p.Ser4186Thr) c.12553T>A (p.Ser4185Thr) c.12532T>A (p.Ser4178Thr) c.12526T>A (p.Ser4176Thr) c.12520T>A (p.Ser4174Thr) c.12496T>A (p.Ser4166Thr) c.12319T>A (p.Ser4107Thr) c.12463T>A (p.Ser4155Thr) c.12535T>A (p.Ser4179Thr) | |
| 1 | g.237784214T>C | CA345413489 | RYR2 | c.*3594T>C (n.*3594T>C) c.12490T>C (p.Ser4164Pro) c.12523T>C (p.Ser4175Pro) c.4679T>C c.12502T>C (p.Ser4168Pro) c.2555T>C c.12454T>C (p.Ser4152Pro) n.3697T>C c.12556T>C (p.Ser4186Pro) c.12553T>C (p.Ser4185Pro) c.12532T>C (p.Ser4178Pro) c.12526T>C (p.Ser4176Pro) c.12520T>C (p.Ser4174Pro) c.12496T>C (p.Ser4166Pro) c.12319T>C (p.Ser4107Pro) c.12463T>C (p.Ser4155Pro) c.12535T>C (p.Ser4179Pro) | |
| 1 | g.237784214T>G | CA345413490 | RYR2 | c.*3594T>G (n.*3594T>G) c.12490T>G (p.Ser4164Ala) c.12523T>G (p.Ser4175Ala) c.4679T>G c.12502T>G (p.Ser4168Ala) c.2555T>G c.12454T>G (p.Ser4152Ala) n.3697T>G c.12556T>G (p.Ser4186Ala) c.12553T>G (p.Ser4185Ala) c.12532T>G (p.Ser4178Ala) c.12526T>G (p.Ser4176Ala) c.12520T>G (p.Ser4174Ala) c.12496T>G (p.Ser4166Ala) c.12319T>G (p.Ser4107Ala) c.12463T>G (p.Ser4155Ala) c.12535T>G (p.Ser4179Ala) | |
| 1 | g.237784215C>A | CA345413491 | RYR2 | c.*3595C>A (n.*3595C>A) c.12491C>A (p.Ser4164Tyr) c.12524C>A (p.Ser4175Tyr) c.4680C>A c.12503C>A (p.Ser4168Tyr) c.2556C>A c.12455C>A (p.Ser4152Tyr) n.3698C>A c.12557C>A (p.Ser4186Tyr) c.12554C>A (p.Ser4185Tyr) c.12533C>A (p.Ser4178Tyr) c.12527C>A (p.Ser4176Tyr) c.12521C>A (p.Ser4174Tyr) c.12497C>A (p.Ser4166Tyr) c.12320C>A (p.Ser4107Tyr) c.12464C>A (p.Ser4155Tyr) c.12536C>A (p.Ser4179Tyr) | COSMIC |
| 1 | g.237784215C>G | CA345413492 | RYR2 | c.*3595C>G (n.*3595C>G) c.12491C>G (p.Ser4164Cys) c.12524C>G (p.Ser4175Cys) c.4680C>G c.12503C>G (p.Ser4168Cys) c.2556C>G c.12455C>G (p.Ser4152Cys) n.3698C>G c.12557C>G (p.Ser4186Cys) c.12554C>G (p.Ser4185Cys) c.12533C>G (p.Ser4178Cys) c.12527C>G (p.Ser4176Cys) c.12521C>G (p.Ser4174Cys) c.12497C>G (p.Ser4166Cys) c.12320C>G (p.Ser4107Cys) c.12464C>G (p.Ser4155Cys) c.12536C>G (p.Ser4179Cys) | |
| 1 | g.237784215C>T | CA345413493 | RYR2 | c.*3595C>T (n.*3595C>T) c.12491C>T (p.Ser4164Phe) c.12524C>T (p.Ser4175Phe) c.4680C>T c.12503C>T (p.Ser4168Phe) c.2556C>T c.12455C>T (p.Ser4152Phe) n.3698C>T c.12557C>T (p.Ser4186Phe) c.12554C>T (p.Ser4185Phe) c.12533C>T (p.Ser4178Phe) c.12527C>T (p.Ser4176Phe) c.12521C>T (p.Ser4174Phe) c.12497C>T (p.Ser4166Phe) c.12320C>T (p.Ser4107Phe) c.12464C>T (p.Ser4155Phe) c.12536C>T (p.Ser4179Phe) | |
| 1 | g.237784216C>A | CA424032269 | RYR2 | c.*3596C>A (n.*3596C>A) c.12492C>A (p.Ser4164=) c.12525C>A (p.Ser4175=) c.4681C>A c.12504C>A (p.Ser4168=) c.2557C>A c.12456C>A (p.Ser4152=) n.3699C>A c.12558C>A (p.Ser4186=) c.12555C>A (p.Ser4185=) c.12534C>A (p.Ser4178=) c.12528C>A (p.Ser4176=) c.12522C>A (p.Ser4174=) c.12498C>A (p.Ser4166=) c.12321C>A (p.Ser4107=) c.12465C>A (p.Ser4155=) c.12537C>A (p.Ser4179=) | |
| 1 | g.237784216C= | CA2487482430 | RYR2 | c.*3596C= (n.*3596C=) c.12492C= (p.Ser4164=) c.12525C= (p.Ser4175=) c.4681C= c.12504C= (p.Ser4168=) c.2557C= c.12456C= (p.Ser4152=) n.3699C= c.12558C= (p.Ser4186=) c.12555C= (p.Ser4185=) c.12534C= (p.Ser4178=) c.12528C= (p.Ser4176=) c.12522C= (p.Ser4174=) c.12498C= (p.Ser4166=) c.12321C= (p.Ser4107=) c.12465C= (p.Ser4155=) c.12537C= (p.Ser4179=) | |
| 1 | g.237784216C>G | CA424032270 | RYR2 | c.*3596C>G (n.*3596C>G) c.12492C>G (p.Ser4164=) c.12525C>G (p.Ser4175=) c.4681C>G c.12504C>G (p.Ser4168=) c.2557C>G c.12456C>G (p.Ser4152=) n.3699C>G c.12558C>G (p.Ser4186=) c.12555C>G (p.Ser4185=) c.12534C>G (p.Ser4178=) c.12528C>G (p.Ser4176=) c.12522C>G (p.Ser4174=) c.12498C>G (p.Ser4166=) c.12321C>G (p.Ser4107=) c.12465C>G (p.Ser4155=) c.12537C>G (p.Ser4179=) | |
| 1 | g.237784216C>T | CA085192 | RYR2 | c.*3596C>T (n.*3596C>T) c.12492C>T (p.Ser4164=) c.12525C>T (p.Ser4175=) c.4681C>T c.12504C>T (p.Ser4168=) c.2557C>T c.12456C>T (p.Ser4152=) n.3699C>T c.12558C>T (p.Ser4186=) c.12555C>T (p.Ser4185=) c.12534C>T (p.Ser4178=) c.12528C>T (p.Ser4176=) c.12522C>T (p.Ser4174=) c.12498C>T (p.Ser4166=) c.12321C>T (p.Ser4107=) c.12465C>T (p.Ser4155=) c.12537C>T (p.Ser4179=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237784217A>C | CA345413494 | RYR2 | c.*3597A>C (n.*3597A>C) c.12493A>C (p.Lys4165Gln) c.12526A>C (p.Lys4176Gln) c.4682A>C c.12505A>C (p.Lys4169Gln) c.2558A>C c.12457A>C (p.Lys4153Gln) n.3700A>C c.12559A>C (p.Lys4187Gln) c.12556A>C (p.Lys4186Gln) c.12535A>C (p.Lys4179Gln) c.12529A>C (p.Lys4177Gln) c.12523A>C (p.Lys4175Gln) c.12499A>C (p.Lys4167Gln) c.12322A>C (p.Lys4108Gln) c.12466A>C (p.Lys4156Gln) c.12538A>C (p.Lys4180Gln) | |
| 1 | g.237784217A>G | CA345413496 | RYR2 | c.*3597A>G (n.*3597A>G) c.12493A>G (p.Lys4165Glu) c.12526A>G (p.Lys4176Glu) c.4682A>G c.12505A>G (p.Lys4169Glu) c.2558A>G c.12457A>G (p.Lys4153Glu) n.3700A>G c.12559A>G (p.Lys4187Glu) c.12556A>G (p.Lys4186Glu) c.12535A>G (p.Lys4179Glu) c.12529A>G (p.Lys4177Glu) c.12523A>G (p.Lys4175Glu) c.12499A>G (p.Lys4167Glu) c.12322A>G (p.Lys4108Glu) c.12466A>G (p.Lys4156Glu) c.12538A>G (p.Lys4180Glu) | |
| 1 | g.237784217A>T | CA345413495 | RYR2 | c.*3597A>T (n.*3597A>T) c.12493A>T (p.Lys4165Ter) c.12526A>T (p.Lys4176Ter) c.4682A>T c.12505A>T (p.Lys4169Ter) c.2558A>T c.12457A>T (p.Lys4153Ter) n.3700A>T c.12559A>T (p.Lys4187Ter) c.12556A>T (p.Lys4186Ter) c.12535A>T (p.Lys4179Ter) c.12529A>T (p.Lys4177Ter) c.12523A>T (p.Lys4175Ter) c.12499A>T (p.Lys4167Ter) c.12322A>T (p.Lys4108Ter) c.12466A>T (p.Lys4156Ter) c.12538A>T (p.Lys4180Ter) | |
| 1 | g.237784218A>C | CA345413497 | RYR2 | c.*3598A>C (n.*3598A>C) c.12494A>C (p.Lys4165Thr) c.12527A>C (p.Lys4176Thr) c.4683A>C c.12506A>C (p.Lys4169Thr) c.2559A>C c.12458A>C (p.Lys4153Thr) n.3701A>C c.12560A>C (p.Lys4187Thr) c.12557A>C (p.Lys4186Thr) c.12536A>C (p.Lys4179Thr) c.12530A>C (p.Lys4177Thr) c.12524A>C (p.Lys4175Thr) c.12500A>C (p.Lys4167Thr) c.12323A>C (p.Lys4108Thr) c.12467A>C (p.Lys4156Thr) c.12539A>C (p.Lys4180Thr) | |
| 1 | g.237784218A>G | CA345413498 | RYR2 | c.*3598A>G (n.*3598A>G) c.12494A>G (p.Lys4165Arg) c.12527A>G (p.Lys4176Arg) c.4683A>G c.12506A>G (p.Lys4169Arg) c.2559A>G c.12458A>G (p.Lys4153Arg) n.3701A>G c.12560A>G (p.Lys4187Arg) c.12557A>G (p.Lys4186Arg) c.12536A>G (p.Lys4179Arg) c.12530A>G (p.Lys4177Arg) c.12524A>G (p.Lys4175Arg) c.12500A>G (p.Lys4167Arg) c.12323A>G (p.Lys4108Arg) c.12467A>G (p.Lys4156Arg) c.12539A>G (p.Lys4180Arg) | |
| 1 | g.237784218A>T | CA345413499 | RYR2 | c.*3598A>T (n.*3598A>T) c.12494A>T (p.Lys4165Ile) c.12527A>T (p.Lys4176Ile) c.4683A>T c.12506A>T (p.Lys4169Ile) c.2559A>T c.12458A>T (p.Lys4153Ile) n.3701A>T c.12560A>T (p.Lys4187Ile) c.12557A>T (p.Lys4186Ile) c.12536A>T (p.Lys4179Ile) c.12530A>T (p.Lys4177Ile) c.12524A>T (p.Lys4175Ile) c.12500A>T (p.Lys4167Ile) c.12323A>T (p.Lys4108Ile) c.12467A>T (p.Lys4156Ile) c.12539A>T (p.Lys4180Ile) | |
| 1 | g.237784219A= | CA2487482431 | RYR2 | c.*3599A= (n.*3599A=) c.12495A= (p.Lys4165=) c.12528A= (p.Lys4176=) c.4684A= c.12507A= (p.Lys4169=) c.2560A= c.12459A= (p.Lys4153=) n.3702A= c.12561A= (p.Lys4187=) c.12558A= (p.Lys4186=) c.12537A= (p.Lys4179=) c.12531A= (p.Lys4177=) c.12525A= (p.Lys4175=) c.12501A= (p.Lys4167=) c.12324A= (p.Lys4108=) c.12468A= (p.Lys4156=) c.12540A= (p.Lys4180=) | |
| 1 | g.237784219A>C | CA345413500 | RYR2 | c.*3599A>C (n.*3599A>C) c.12495A>C (p.Lys4165Asn) c.12528A>C (p.Lys4176Asn) c.4684A>C c.12507A>C (p.Lys4169Asn) c.2560A>C c.12459A>C (p.Lys4153Asn) n.3702A>C c.12561A>C (p.Lys4187Asn) c.12558A>C (p.Lys4186Asn) c.12537A>C (p.Lys4179Asn) c.12531A>C (p.Lys4177Asn) c.12525A>C (p.Lys4175Asn) c.12501A>C (p.Lys4167Asn) c.12324A>C (p.Lys4108Asn) c.12468A>C (p.Lys4156Asn) c.12540A>C (p.Lys4180Asn) | |
| 1 | g.237784219A>G | CA424032274 | RYR2 | c.*3599A>G (n.*3599A>G) c.12495A>G (p.Lys4165=) c.12528A>G (p.Lys4176=) c.4684A>G c.12507A>G (p.Lys4169=) c.2560A>G c.12459A>G (p.Lys4153=) n.3702A>G c.12561A>G (p.Lys4187=) c.12558A>G (p.Lys4186=) c.12537A>G (p.Lys4179=) c.12531A>G (p.Lys4177=) c.12525A>G (p.Lys4175=) c.12501A>G (p.Lys4167=) c.12324A>G (p.Lys4108=) c.12468A>G (p.Lys4156=) c.12540A>G (p.Lys4180=) | |
| 1 | g.237784219A>T | CA345413501 | RYR2 | c.*3599A>T (n.*3599A>T) c.12495A>T (p.Lys4165Asn) c.12528A>T (p.Lys4176Asn) c.4684A>T c.12507A>T (p.Lys4169Asn) c.2560A>T c.12459A>T (p.Lys4153Asn) n.3702A>T c.12561A>T (p.Lys4187Asn) c.12558A>T (p.Lys4186Asn) c.12537A>T (p.Lys4179Asn) c.12531A>T (p.Lys4177Asn) c.12525A>T (p.Lys4175Asn) c.12501A>T (p.Lys4167Asn) c.12324A>T (p.Lys4108Asn) c.12468A>T (p.Lys4156Asn) c.12540A>T (p.Lys4180Asn) | |
| 1 | g.237784220A= | CA2487482432 | RYR2 | c.*3600A= (n.*3600A=) c.12496A= (p.Arg4166=) c.12529A= (p.Arg4177=) c.4685A= c.12508A= (p.Arg4170=) c.2561A= c.12460A= (p.Arg4154=) n.3703A= c.12562A= (p.Arg4188=) c.12559A= (p.Arg4187=) c.12538A= (p.Arg4180=) c.12532A= (p.Arg4178=) c.12526A= (p.Arg4176=) c.12502A= (p.Arg4168=) c.12325A= (p.Arg4109=) c.12469A= (p.Arg4157=) c.12541A= (p.Arg4181=) | |
| 1 | g.237784220A>C | CA424032275 | RYR2 | c.*3600A>C (n.*3600A>C) c.12496A>C (p.Arg4166=) c.12529A>C (p.Arg4177=) c.4685A>C c.12508A>C (p.Arg4170=) c.2561A>C c.12460A>C (p.Arg4154=) n.3703A>C c.12562A>C (p.Arg4188=) c.12559A>C (p.Arg4187=) c.12538A>C (p.Arg4180=) c.12532A>C (p.Arg4178=) c.12526A>C (p.Arg4176=) c.12502A>C (p.Arg4168=) c.12325A>C (p.Arg4109=) c.12469A>C (p.Arg4157=) c.12541A>C (p.Arg4181=) | |
| 1 | g.237784220A>G | CA345413502 | RYR2 | c.*3600A>G (n.*3600A>G) c.12496A>G (p.Arg4166Gly) c.12529A>G (p.Arg4177Gly) c.4685A>G c.12508A>G (p.Arg4170Gly) c.2561A>G c.12460A>G (p.Arg4154Gly) n.3703A>G c.12562A>G (p.Arg4188Gly) c.12559A>G (p.Arg4187Gly) c.12538A>G (p.Arg4180Gly) c.12532A>G (p.Arg4178Gly) c.12526A>G (p.Arg4176Gly) c.12502A>G (p.Arg4168Gly) c.12325A>G (p.Arg4109Gly) c.12469A>G (p.Arg4157Gly) c.12541A>G (p.Arg4181Gly) | dbSNP |
| 1 | g.237784220A>T | CA345413503 | RYR2 | c.*3600A>T (n.*3600A>T) c.12496A>T (p.Arg4166Ter) c.12529A>T (p.Arg4177Ter) c.4685A>T c.12508A>T (p.Arg4170Ter) c.2561A>T c.12460A>T (p.Arg4154Ter) n.3703A>T c.12562A>T (p.Arg4188Ter) c.12559A>T (p.Arg4187Ter) c.12538A>T (p.Arg4180Ter) c.12532A>T (p.Arg4178Ter) c.12526A>T (p.Arg4176Ter) c.12502A>T (p.Arg4168Ter) c.12325A>T (p.Arg4109Ter) c.12469A>T (p.Arg4157Ter) c.12541A>T (p.Arg4181Ter) | |
| 1 | g.237784222_237784225dup | CA658655635 | RYR2 | c.*3602_*3605dup (n.*3602_*3605dup) c.12498_12501dup (p.Phe4168ThrfsTer5) c.12531_12534dup (p.Phe4179ThrfsTer5) c.4687_4690dup c.12510_12513dup (p.Phe4172ThrfsTer5) c.2563_2566dup c.12462_12465dup (p.Phe4156ThrfsTer5) n.3705_3708dup c.12564_12567dup (p.Phe4190ThrfsTer5) c.12561_12564dup (p.Phe4189ThrfsTer5) c.12540_12543dup (p.Phe4182ThrfsTer5) c.12534_12537dup (p.Phe4180ThrfsTer5) c.12528_12531dup (p.Phe4178ThrfsTer5) c.12504_12507dup (p.Phe4170ThrfsTer5) c.12327_12330dup (p.Phe4111ThrfsTer5) c.12471_12474dup (p.Phe4159ThrfsTer5) c.12543_12546dup (p.Phe4183ThrfsTer5) | ClinVar dbSNP |
| 1 | g.237784221G>A | CA345413504 | RYR2 | c.*3601G>A (n.*3601G>A) c.12497G>A (p.Arg4166Lys) c.12530G>A (p.Arg4177Lys) c.4686G>A c.12509G>A (p.Arg4170Lys) c.2562G>A c.12461G>A (p.Arg4154Lys) n.3704G>A c.12563G>A (p.Arg4188Lys) c.12560G>A (p.Arg4187Lys) c.12539G>A (p.Arg4180Lys) c.12533G>A (p.Arg4178Lys) c.12527G>A (p.Arg4176Lys) c.12503G>A (p.Arg4168Lys) c.12326G>A (p.Arg4109Lys) c.12470G>A (p.Arg4157Lys) c.12542G>A (p.Arg4181Lys) | |
| 1 | g.237784221G>C | CA345413505 | RYR2 | c.*3601G>C (n.*3601G>C) c.12497G>C (p.Arg4166Thr) c.12530G>C (p.Arg4177Thr) c.4686G>C c.12509G>C (p.Arg4170Thr) c.2562G>C c.12461G>C (p.Arg4154Thr) n.3704G>C c.12563G>C (p.Arg4188Thr) c.12560G>C (p.Arg4187Thr) c.12539G>C (p.Arg4180Thr) c.12533G>C (p.Arg4178Thr) c.12527G>C (p.Arg4176Thr) c.12503G>C (p.Arg4168Thr) c.12326G>C (p.Arg4109Thr) c.12470G>C (p.Arg4157Thr) c.12542G>C (p.Arg4181Thr) | |
| 1 | g.237784221G>T | CA345413506 | RYR2 | c.*3601G>T (n.*3601G>T) c.12497G>T (p.Arg4166Ile) c.12530G>T (p.Arg4177Ile) c.4686G>T c.12509G>T (p.Arg4170Ile) c.2562G>T c.12461G>T (p.Arg4154Ile) n.3704G>T c.12563G>T (p.Arg4188Ile) c.12560G>T (p.Arg4187Ile) c.12539G>T (p.Arg4180Ile) c.12533G>T (p.Arg4178Ile) c.12527G>T (p.Arg4176Ile) c.12503G>T (p.Arg4168Ile) c.12326G>T (p.Arg4109Ile) c.12470G>T (p.Arg4157Ile) c.12542G>T (p.Arg4181Ile) | |
| 1 | g.237784222A= | CA2487482433 | RYR2 | c.*3602A= (n.*3602A=) c.12498A= (p.Arg4166=) c.12531A= (p.Arg4177=) c.4687A= c.12510A= (p.Arg4170=) c.2563A= c.12462A= (p.Arg4154=) n.3705A= c.12564A= (p.Arg4188=) c.12561A= (p.Arg4187=) c.12540A= (p.Arg4180=) c.12534A= (p.Arg4178=) c.12528A= (p.Arg4176=) c.12504A= (p.Arg4168=) c.12327A= (p.Arg4109=) c.12471A= (p.Arg4157=) c.12543A= (p.Arg4181=) | |
| 1 | g.237784222A>C | CA345413508 | RYR2 | c.*3602A>C (n.*3602A>C) c.12498A>C (p.Arg4166Ser) c.12531A>C (p.Arg4177Ser) c.4687A>C c.12510A>C (p.Arg4170Ser) c.2563A>C c.12462A>C (p.Arg4154Ser) n.3705A>C c.12564A>C (p.Arg4188Ser) c.12561A>C (p.Arg4187Ser) c.12540A>C (p.Arg4180Ser) c.12534A>C (p.Arg4178Ser) c.12528A>C (p.Arg4176Ser) c.12504A>C (p.Arg4168Ser) c.12327A>C (p.Arg4109Ser) c.12471A>C (p.Arg4157Ser) c.12543A>C (p.Arg4181Ser) | |
| 1 | g.237784222A>G | CA424032279 | RYR2 | c.*3602A>G (n.*3602A>G) c.12498A>G (p.Arg4166=) c.12531A>G (p.Arg4177=) c.4687A>G c.12510A>G (p.Arg4170=) c.2563A>G c.12462A>G (p.Arg4154=) n.3705A>G c.12564A>G (p.Arg4188=) c.12561A>G (p.Arg4187=) c.12540A>G (p.Arg4180=) c.12534A>G (p.Arg4178=) c.12528A>G (p.Arg4176=) c.12504A>G (p.Arg4168=) c.12327A>G (p.Arg4109=) c.12471A>G (p.Arg4157=) c.12543A>G (p.Arg4181=) | |
| 1 | g.237784222A>T | CA345413507 | RYR2 | c.*3602A>T (n.*3602A>T) c.12498A>T (p.Arg4166Ser) c.12531A>T (p.Arg4177Ser) c.4687A>T c.12510A>T (p.Arg4170Ser) c.2563A>T c.12462A>T (p.Arg4154Ser) n.3705A>T c.12564A>T (p.Arg4188Ser) c.12561A>T (p.Arg4187Ser) c.12540A>T (p.Arg4180Ser) c.12534A>T (p.Arg4178Ser) c.12528A>T (p.Arg4176Ser) c.12504A>T (p.Arg4168Ser) c.12327A>T (p.Arg4109Ser) c.12471A>T (p.Arg4157Ser) c.12543A>T (p.Arg4181Ser) | ClinVar dbSNP |
| 1 | g.237784223C>A | CA345413509 | RYR2 | c.*3603C>A (n.*3603C>A) c.12499C>A (p.Gln4167Lys) c.12532C>A (p.Gln4178Lys) c.4688C>A c.12511C>A (p.Gln4171Lys) c.2564C>A c.12463C>A (p.Gln4155Lys) n.3706C>A c.12565C>A (p.Gln4189Lys) c.12562C>A (p.Gln4188Lys) c.12541C>A (p.Gln4181Lys) c.12535C>A (p.Gln4179Lys) c.12529C>A (p.Gln4177Lys) c.12505C>A (p.Gln4169Lys) c.12328C>A (p.Gln4110Lys) c.12472C>A (p.Gln4158Lys) c.12544C>A (p.Gln4182Lys) | |
| 1 | g.237784223C>G | CA345413510 | RYR2 | c.*3603C>G (n.*3603C>G) c.12499C>G (p.Gln4167Glu) c.12532C>G (p.Gln4178Glu) c.4688C>G c.12511C>G (p.Gln4171Glu) c.2564C>G c.12463C>G (p.Gln4155Glu) n.3706C>G c.12565C>G (p.Gln4189Glu) c.12562C>G (p.Gln4188Glu) c.12541C>G (p.Gln4181Glu) c.12535C>G (p.Gln4179Glu) c.12529C>G (p.Gln4177Glu) c.12505C>G (p.Gln4169Glu) c.12328C>G (p.Gln4110Glu) c.12472C>G (p.Gln4158Glu) c.12544C>G (p.Gln4182Glu) | ClinVar |
| 1 | g.237784223C>T | CA345413511 | RYR2 | c.*3603C>T (n.*3603C>T) c.12499C>T (p.Gln4167Ter) c.12532C>T (p.Gln4178Ter) c.4688C>T c.12511C>T (p.Gln4171Ter) c.2564C>T c.12463C>T (p.Gln4155Ter) n.3706C>T c.12565C>T (p.Gln4189Ter) c.12562C>T (p.Gln4188Ter) c.12541C>T (p.Gln4181Ter) c.12535C>T (p.Gln4179Ter) c.12529C>T (p.Gln4177Ter) c.12505C>T (p.Gln4169Ter) c.12328C>T (p.Gln4110Ter) c.12472C>T (p.Gln4158Ter) c.12544C>T (p.Gln4182Ter) | |
| 1 | g.237784224A>C | CA345413512 | RYR2 | c.*3604A>C (n.*3604A>C) c.12500A>C (p.Gln4167Pro) c.12533A>C (p.Gln4178Pro) c.4689A>C c.12512A>C (p.Gln4171Pro) c.2565A>C c.12464A>C (p.Gln4155Pro) n.3707A>C c.12566A>C (p.Gln4189Pro) c.12563A>C (p.Gln4188Pro) c.12542A>C (p.Gln4181Pro) c.12536A>C (p.Gln4179Pro) c.12530A>C (p.Gln4177Pro) c.12506A>C (p.Gln4169Pro) c.12329A>C (p.Gln4110Pro) c.12473A>C (p.Gln4158Pro) c.12545A>C (p.Gln4182Pro) | |
| 1 | g.237784224A>G | CA345413513 | RYR2 | c.*3604A>G (n.*3604A>G) c.12500A>G (p.Gln4167Arg) c.12533A>G (p.Gln4178Arg) c.4689A>G c.12512A>G (p.Gln4171Arg) c.2565A>G c.12464A>G (p.Gln4155Arg) n.3707A>G c.12566A>G (p.Gln4189Arg) c.12563A>G (p.Gln4188Arg) c.12542A>G (p.Gln4181Arg) c.12536A>G (p.Gln4179Arg) c.12530A>G (p.Gln4177Arg) c.12506A>G (p.Gln4169Arg) c.12329A>G (p.Gln4110Arg) c.12473A>G (p.Gln4158Arg) c.12545A>G (p.Gln4182Arg) | |
| 1 | g.237784224A>T | CA345413514 | RYR2 | c.*3604A>T (n.*3604A>T) c.12500A>T (p.Gln4167Leu) c.12533A>T (p.Gln4178Leu) c.4689A>T c.12512A>T (p.Gln4171Leu) c.2565A>T c.12464A>T (p.Gln4155Leu) n.3707A>T c.12566A>T (p.Gln4189Leu) c.12563A>T (p.Gln4188Leu) c.12542A>T (p.Gln4181Leu) c.12536A>T (p.Gln4179Leu) c.12530A>T (p.Gln4177Leu) c.12506A>T (p.Gln4169Leu) c.12329A>T (p.Gln4110Leu) c.12473A>T (p.Gln4158Leu) c.12545A>T (p.Gln4182Leu) | |
| 1 | g.237784225G>A | CA424032280 | RYR2 | c.*3605G>A (n.*3605G>A) c.12501G>A (p.Gln4167=) c.12534G>A (p.Gln4178=) c.4690G>A c.12513G>A (p.Gln4171=) c.2566G>A c.12465G>A (p.Gln4155=) n.3708G>A c.12567G>A (p.Gln4189=) c.12564G>A (p.Gln4188=) c.12543G>A (p.Gln4181=) c.12537G>A (p.Gln4179=) c.12531G>A (p.Gln4177=) c.12507G>A (p.Gln4169=) c.12330G>A (p.Gln4110=) c.12474G>A (p.Gln4158=) c.12546G>A (p.Gln4182=) | |
| 1 | g.237784225G>C | CA345413515 | RYR2 | c.*3605G>C (n.*3605G>C) c.12501G>C (p.Gln4167His) c.12534G>C (p.Gln4178His) c.4690G>C c.12513G>C (p.Gln4171His) c.2566G>C c.12465G>C (p.Gln4155His) n.3708G>C c.12567G>C (p.Gln4189His) c.12564G>C (p.Gln4188His) c.12543G>C (p.Gln4181His) c.12537G>C (p.Gln4179His) c.12531G>C (p.Gln4177His) c.12507G>C (p.Gln4169His) c.12330G>C (p.Gln4110His) c.12474G>C (p.Gln4158His) c.12546G>C (p.Gln4182His) | |
| 1 | g.237784225G>T | CA345413516 | RYR2 | c.*3605G>T (n.*3605G>T) c.12501G>T (p.Gln4167His) c.12534G>T (p.Gln4178His) c.4690G>T c.12513G>T (p.Gln4171His) c.2566G>T c.12465G>T (p.Gln4155His) n.3708G>T c.12567G>T (p.Gln4189His) c.12564G>T (p.Gln4188His) c.12543G>T (p.Gln4181His) c.12537G>T (p.Gln4179His) c.12531G>T (p.Gln4177His) c.12507G>T (p.Gln4169His) c.12330G>T (p.Gln4110His) c.12474G>T (p.Gln4158His) c.12546G>T (p.Gln4182His) | |
| 1 | g.237784226T>A | CA345413517 | RYR2 | c.*3606T>A (n.*3606T>A) c.12502T>A (p.Phe4168Ile) c.12535T>A (p.Phe4179Ile) c.4691T>A c.12514T>A (p.Phe4172Ile) c.2567T>A c.12466T>A (p.Phe4156Ile) n.3709T>A c.12568T>A (p.Phe4190Ile) c.12565T>A (p.Phe4189Ile) c.12544T>A (p.Phe4182Ile) c.12538T>A (p.Phe4180Ile) c.12532T>A (p.Phe4178Ile) c.12508T>A (p.Phe4170Ile) c.12331T>A (p.Phe4111Ile) c.12475T>A (p.Phe4159Ile) c.12547T>A (p.Phe4183Ile) | |
| 1 | g.237784226T>C | CA345413518 | RYR2 | c.*3606T>C (n.*3606T>C) c.12502T>C (p.Phe4168Leu) c.12535T>C (p.Phe4179Leu) c.4691T>C c.12514T>C (p.Phe4172Leu) c.2567T>C c.12466T>C (p.Phe4156Leu) n.3709T>C c.12568T>C (p.Phe4190Leu) c.12565T>C (p.Phe4189Leu) c.12544T>C (p.Phe4182Leu) c.12538T>C (p.Phe4180Leu) c.12532T>C (p.Phe4178Leu) c.12508T>C (p.Phe4170Leu) c.12331T>C (p.Phe4111Leu) c.12475T>C (p.Phe4159Leu) c.12547T>C (p.Phe4183Leu) | |
| 1 | g.237784226T>G | CA345413519 | RYR2 | c.*3606T>G (n.*3606T>G) c.12502T>G (p.Phe4168Val) c.12535T>G (p.Phe4179Val) c.4691T>G c.12514T>G (p.Phe4172Val) c.2567T>G c.12466T>G (p.Phe4156Val) n.3709T>G c.12568T>G (p.Phe4190Val) c.12565T>G (p.Phe4189Val) c.12544T>G (p.Phe4182Val) c.12538T>G (p.Phe4180Val) c.12532T>G (p.Phe4178Val) c.12508T>G (p.Phe4170Val) c.12331T>G (p.Phe4111Val) c.12475T>G (p.Phe4159Val) c.12547T>G (p.Phe4183Val) | |
| 1 | g.237784227T>A | CA345413520 | RYR2 | c.*3607T>A (n.*3607T>A) c.12503T>A (p.Phe4168Tyr) c.12536T>A (p.Phe4179Tyr) c.4692T>A c.12515T>A (p.Phe4172Tyr) c.2568T>A c.12467T>A (p.Phe4156Tyr) n.3710T>A c.12569T>A (p.Phe4190Tyr) c.12566T>A (p.Phe4189Tyr) c.12545T>A (p.Phe4182Tyr) c.12539T>A (p.Phe4180Tyr) c.12533T>A (p.Phe4178Tyr) c.12509T>A (p.Phe4170Tyr) c.12332T>A (p.Phe4111Tyr) c.12476T>A (p.Phe4159Tyr) c.12548T>A (p.Phe4183Tyr) | |
| 1 | g.237784227T>C | CA345413521 | RYR2 | c.*3607T>C (n.*3607T>C) c.12503T>C (p.Phe4168Ser) c.12536T>C (p.Phe4179Ser) c.4692T>C c.12515T>C (p.Phe4172Ser) c.2568T>C c.12467T>C (p.Phe4156Ser) n.3710T>C c.12569T>C (p.Phe4190Ser) c.12566T>C (p.Phe4189Ser) c.12545T>C (p.Phe4182Ser) c.12539T>C (p.Phe4180Ser) c.12533T>C (p.Phe4178Ser) c.12509T>C (p.Phe4170Ser) c.12332T>C (p.Phe4111Ser) c.12476T>C (p.Phe4159Ser) c.12548T>C (p.Phe4183Ser) | |
| 1 | g.237784227T>G | CA345413522 | RYR2 | c.*3607T>G (n.*3607T>G) c.12503T>G (p.Phe4168Cys) c.12536T>G (p.Phe4179Cys) c.4692T>G c.12515T>G (p.Phe4172Cys) c.2568T>G c.12467T>G (p.Phe4156Cys) n.3710T>G c.12569T>G (p.Phe4190Cys) c.12566T>G (p.Phe4189Cys) c.12545T>G (p.Phe4182Cys) c.12539T>G (p.Phe4180Cys) c.12533T>G (p.Phe4178Cys) c.12509T>G (p.Phe4170Cys) c.12332T>G (p.Phe4111Cys) c.12476T>G (p.Phe4159Cys) c.12548T>G (p.Phe4183Cys) | |
| 1 | g.237784228C>A | CA345413523 | RYR2 | c.*3608C>A (n.*3608C>A) c.12504C>A (p.Phe4168Leu) c.12537C>A (p.Phe4179Leu) c.4693C>A c.12516C>A (p.Phe4172Leu) c.2569C>A c.12468C>A (p.Phe4156Leu) n.3711C>A c.12570C>A (p.Phe4190Leu) c.12567C>A (p.Phe4189Leu) c.12546C>A (p.Phe4182Leu) c.12540C>A (p.Phe4180Leu) c.12534C>A (p.Phe4178Leu) c.12510C>A (p.Phe4170Leu) c.12333C>A (p.Phe4111Leu) c.12477C>A (p.Phe4159Leu) c.12549C>A (p.Phe4183Leu) | |
| 1 | g.237784228C>G | CA345413524 | RYR2 | c.*3608C>G (n.*3608C>G) c.12504C>G (p.Phe4168Leu) c.12537C>G (p.Phe4179Leu) c.4693C>G c.12516C>G (p.Phe4172Leu) c.2569C>G c.12468C>G (p.Phe4156Leu) n.3711C>G c.12570C>G (p.Phe4190Leu) c.12567C>G (p.Phe4189Leu) c.12546C>G (p.Phe4182Leu) c.12540C>G (p.Phe4180Leu) c.12534C>G (p.Phe4178Leu) c.12510C>G (p.Phe4170Leu) c.12333C>G (p.Phe4111Leu) c.12477C>G (p.Phe4159Leu) c.12549C>G (p.Phe4183Leu) | |
| 1 | g.237784228C>T | CA424032283 | RYR2 | c.*3608C>T (n.*3608C>T) c.12504C>T (p.Phe4168=) c.12537C>T (p.Phe4179=) c.4693C>T c.12516C>T (p.Phe4172=) c.2569C>T c.12468C>T (p.Phe4156=) n.3711C>T c.12570C>T (p.Phe4190=) c.12567C>T (p.Phe4189=) c.12546C>T (p.Phe4182=) c.12540C>T (p.Phe4180=) c.12534C>T (p.Phe4178=) c.12510C>T (p.Phe4170=) c.12333C>T (p.Phe4111=) c.12477C>T (p.Phe4159=) c.12549C>T (p.Phe4183=) | COSMIC COSMIC |
| 1 | g.237784229A>C | CA345413527 | RYR2 | c.*3609A>C (n.*3609A>C) c.12505A>C (p.Ile4169Leu) c.12538A>C (p.Ile4180Leu) c.4694A>C c.12517A>C (p.Ile4173Leu) c.2570A>C c.12469A>C (p.Ile4157Leu) n.3712A>C c.12571A>C (p.Ile4191Leu) c.12568A>C (p.Ile4190Leu) c.12547A>C (p.Ile4183Leu) c.12541A>C (p.Ile4181Leu) c.12535A>C (p.Ile4179Leu) c.12511A>C (p.Ile4171Leu) c.12334A>C (p.Ile4112Leu) c.12478A>C (p.Ile4160Leu) c.12550A>C (p.Ile4184Leu) | |
| 1 | g.237784229A>G | CA345413529 | RYR2 | c.*3609A>G (n.*3609A>G) c.12505A>G (p.Ile4169Val) c.12538A>G (p.Ile4180Val) c.4694A>G c.12517A>G (p.Ile4173Val) c.2570A>G c.12469A>G (p.Ile4157Val) n.3712A>G c.12571A>G (p.Ile4191Val) c.12568A>G (p.Ile4190Val) c.12547A>G (p.Ile4183Val) c.12541A>G (p.Ile4181Val) c.12535A>G (p.Ile4179Val) c.12511A>G (p.Ile4171Val) c.12334A>G (p.Ile4112Val) c.12478A>G (p.Ile4160Val) c.12550A>G (p.Ile4184Val) | |
| 1 | g.237784229A>T | CA345413530 | RYR2 | c.*3609A>T (n.*3609A>T) c.12505A>T (p.Ile4169Leu) c.12538A>T (p.Ile4180Leu) c.4694A>T c.12517A>T (p.Ile4173Leu) c.2570A>T c.12469A>T (p.Ile4157Leu) n.3712A>T c.12571A>T (p.Ile4191Leu) c.12568A>T (p.Ile4190Leu) c.12547A>T (p.Ile4183Leu) c.12541A>T (p.Ile4181Leu) c.12535A>T (p.Ile4179Leu) c.12511A>T (p.Ile4171Leu) c.12334A>T (p.Ile4112Leu) c.12478A>T (p.Ile4160Leu) c.12550A>T (p.Ile4184Leu) | |
| 1 | g.237784230T>A | CA345413531 | RYR2 | c.*3610T>A (n.*3610T>A) c.12506T>A (p.Ile4169Lys) c.12539T>A (p.Ile4180Lys) c.4695T>A c.12518T>A (p.Ile4173Lys) c.2571T>A c.12470T>A (p.Ile4157Lys) n.3713T>A c.12572T>A (p.Ile4191Lys) c.12569T>A (p.Ile4190Lys) c.12548T>A (p.Ile4183Lys) c.12542T>A (p.Ile4181Lys) c.12536T>A (p.Ile4179Lys) c.12512T>A (p.Ile4171Lys) c.12335T>A (p.Ile4112Lys) c.12479T>A (p.Ile4160Lys) c.12551T>A (p.Ile4184Lys) | |
| 1 | g.237784230T>C | CA345413532 | RYR2 | c.*3610T>C (n.*3610T>C) c.12506T>C (p.Ile4169Thr) c.12539T>C (p.Ile4180Thr) c.4695T>C c.12518T>C (p.Ile4173Thr) c.2571T>C c.12470T>C (p.Ile4157Thr) n.3713T>C c.12572T>C (p.Ile4191Thr) c.12569T>C (p.Ile4190Thr) c.12548T>C (p.Ile4183Thr) c.12542T>C (p.Ile4181Thr) c.12536T>C (p.Ile4179Thr) c.12512T>C (p.Ile4171Thr) c.12335T>C (p.Ile4112Thr) c.12479T>C (p.Ile4160Thr) c.12551T>C (p.Ile4184Thr) | |
| 1 | g.237784230T>G | CA345413533 | RYR2 | c.*3610T>G (n.*3610T>G) c.12506T>G (p.Ile4169Arg) c.12539T>G (p.Ile4180Arg) c.4695T>G c.12518T>G (p.Ile4173Arg) c.2571T>G c.12470T>G (p.Ile4157Arg) n.3713T>G c.12572T>G (p.Ile4191Arg) c.12569T>G (p.Ile4190Arg) c.12548T>G (p.Ile4183Arg) c.12542T>G (p.Ile4181Arg) c.12536T>G (p.Ile4179Arg) c.12512T>G (p.Ile4171Arg) c.12335T>G (p.Ile4112Arg) c.12479T>G (p.Ile4160Arg) c.12551T>G (p.Ile4184Arg) | dbSNP |
| 1 | g.237784230T= | CA2487482434 | RYR2 | c.*3610T= (n.*3610T=) c.12506T= (p.Ile4169=) c.12539T= (p.Ile4180=) c.4695T= c.12518T= (p.Ile4173=) c.2571T= c.12470T= (p.Ile4157=) n.3713T= c.12572T= (p.Ile4191=) c.12569T= (p.Ile4190=) c.12548T= (p.Ile4183=) c.12542T= (p.Ile4181=) c.12536T= (p.Ile4179=) c.12512T= (p.Ile4171=) c.12335T= (p.Ile4112=) c.12479T= (p.Ile4160=) c.12551T= (p.Ile4184=) | |
| 1 | g.237784231A= | CA2487482435 | RYR2 | c.*3611A= (n.*3611A=) c.12507A= (p.Ile4169=) c.12540A= (p.Ile4180=) c.4696A= c.12519A= (p.Ile4173=) c.2572A= c.12471A= (p.Ile4157=) n.3714A= c.12573A= (p.Ile4191=) c.12570A= (p.Ile4190=) c.12549A= (p.Ile4183=) c.12543A= (p.Ile4181=) c.12537A= (p.Ile4179=) c.12513A= (p.Ile4171=) c.12336A= (p.Ile4112=) c.12480A= (p.Ile4160=) c.12552A= (p.Ile4184=) | |
| 1 | g.237784231A>C | CA424032284 | RYR2 | c.*3611A>C (n.*3611A>C) c.12507A>C (p.Ile4169=) c.12540A>C (p.Ile4180=) c.4696A>C c.12519A>C (p.Ile4173=) c.2572A>C c.12471A>C (p.Ile4157=) n.3714A>C c.12573A>C (p.Ile4191=) c.12570A>C (p.Ile4190=) c.12549A>C (p.Ile4183=) c.12543A>C (p.Ile4181=) c.12537A>C (p.Ile4179=) c.12513A>C (p.Ile4171=) c.12336A>C (p.Ile4112=) c.12480A>C (p.Ile4160=) c.12552A>C (p.Ile4184=) | |
| 1 | g.237784231A>G | CA345413534 | RYR2 | c.*3611A>G (n.*3611A>G) c.12507A>G (p.Ile4169Met) c.12540A>G (p.Ile4180Met) c.4696A>G c.12519A>G (p.Ile4173Met) c.2572A>G c.12471A>G (p.Ile4157Met) n.3714A>G c.12573A>G (p.Ile4191Met) c.12570A>G (p.Ile4190Met) c.12549A>G (p.Ile4183Met) c.12543A>G (p.Ile4181Met) c.12537A>G (p.Ile4179Met) c.12513A>G (p.Ile4171Met) c.12336A>G (p.Ile4112Met) c.12480A>G (p.Ile4160Met) c.12552A>G (p.Ile4184Met) | ClinVar dbSNP COSMIC COSMIC |
| 1 | g.237784231A>T | CA424032285 | RYR2 | c.*3611A>T (n.*3611A>T) c.12507A>T (p.Ile4169=) c.12540A>T (p.Ile4180=) c.4696A>T c.12519A>T (p.Ile4173=) c.2572A>T c.12471A>T (p.Ile4157=) n.3714A>T c.12573A>T (p.Ile4191=) c.12570A>T (p.Ile4190=) c.12549A>T (p.Ile4183=) c.12543A>T (p.Ile4181=) c.12537A>T (p.Ile4179=) c.12513A>T (p.Ile4171=) c.12336A>T (p.Ile4112=) c.12480A>T (p.Ile4160=) c.12552A>T (p.Ile4184=) | |
| 1 | g.237784232T>A | CA345413535 | RYR2 | c.*3612T>A (n.*3612T>A) c.12508T>A (p.Phe4170Ile) c.12541T>A (p.Phe4181Ile) c.4697T>A c.12520T>A (p.Phe4174Ile) c.2573T>A c.12472T>A (p.Phe4158Ile) n.3715T>A c.12574T>A (p.Phe4192Ile) c.12571T>A (p.Phe4191Ile) c.12550T>A (p.Phe4184Ile) c.12544T>A (p.Phe4182Ile) c.12538T>A (p.Phe4180Ile) c.12514T>A (p.Phe4172Ile) c.12337T>A (p.Phe4113Ile) c.12481T>A (p.Phe4161Ile) c.12553T>A (p.Phe4185Ile) | |
| 1 | g.237784232T>C | CA345413536 | RYR2 | c.*3612T>C (n.*3612T>C) c.12508T>C (p.Phe4170Leu) c.12541T>C (p.Phe4181Leu) c.4697T>C c.12520T>C (p.Phe4174Leu) c.2573T>C c.12472T>C (p.Phe4158Leu) n.3715T>C c.12574T>C (p.Phe4192Leu) c.12571T>C (p.Phe4191Leu) c.12550T>C (p.Phe4184Leu) c.12544T>C (p.Phe4182Leu) c.12538T>C (p.Phe4180Leu) c.12514T>C (p.Phe4172Leu) c.12337T>C (p.Phe4113Leu) c.12481T>C (p.Phe4161Leu) c.12553T>C (p.Phe4185Leu) | |
| 1 | g.237784232T>G | CA345413537 | RYR2 | c.*3612T>G (n.*3612T>G) c.12508T>G (p.Phe4170Val) c.12541T>G (p.Phe4181Val) c.4697T>G c.12520T>G (p.Phe4174Val) c.2573T>G c.12472T>G (p.Phe4158Val) n.3715T>G c.12574T>G (p.Phe4192Val) c.12571T>G (p.Phe4191Val) c.12550T>G (p.Phe4184Val) c.12544T>G (p.Phe4182Val) c.12538T>G (p.Phe4180Val) c.12514T>G (p.Phe4172Val) c.12337T>G (p.Phe4113Val) c.12481T>G (p.Phe4161Val) c.12553T>G (p.Phe4185Val) | |
| 1 | g.237784233T>A | CA345413538 | RYR2 | c.*3613T>A (n.*3613T>A) c.12509T>A (p.Phe4170Tyr) c.12542T>A (p.Phe4181Tyr) c.4698T>A c.12521T>A (p.Phe4174Tyr) c.2574T>A c.12473T>A (p.Phe4158Tyr) n.3716T>A c.12575T>A (p.Phe4192Tyr) c.12572T>A (p.Phe4191Tyr) c.12551T>A (p.Phe4184Tyr) c.12545T>A (p.Phe4182Tyr) c.12539T>A (p.Phe4180Tyr) c.12515T>A (p.Phe4172Tyr) c.12338T>A (p.Phe4113Tyr) c.12482T>A (p.Phe4161Tyr) c.12554T>A (p.Phe4185Tyr) | ClinVar |
| 1 | g.237784233T>C | CA345413539 | RYR2 | c.*3613T>C (n.*3613T>C) c.12509T>C (p.Phe4170Ser) c.12542T>C (p.Phe4181Ser) c.4698T>C c.12521T>C (p.Phe4174Ser) c.2574T>C c.12473T>C (p.Phe4158Ser) n.3716T>C c.12575T>C (p.Phe4192Ser) c.12572T>C (p.Phe4191Ser) c.12551T>C (p.Phe4184Ser) c.12545T>C (p.Phe4182Ser) c.12539T>C (p.Phe4180Ser) c.12515T>C (p.Phe4172Ser) c.12338T>C (p.Phe4113Ser) c.12482T>C (p.Phe4161Ser) c.12554T>C (p.Phe4185Ser) | |
| 1 | g.237784233T>G | CA345413540 | RYR2 | c.*3613T>G (n.*3613T>G) c.12509T>G (p.Phe4170Cys) c.12542T>G (p.Phe4181Cys) c.4698T>G c.12521T>G (p.Phe4174Cys) c.2574T>G c.12473T>G (p.Phe4158Cys) n.3716T>G c.12575T>G (p.Phe4192Cys) c.12572T>G (p.Phe4191Cys) c.12551T>G (p.Phe4184Cys) c.12545T>G (p.Phe4182Cys) c.12539T>G (p.Phe4180Cys) c.12515T>G (p.Phe4172Cys) c.12338T>G (p.Phe4113Cys) c.12482T>G (p.Phe4161Cys) c.12554T>G (p.Phe4185Cys) | ClinVar |
| 1 | g.237784234T>A | CA345413541 | RYR2 | c.*3614T>A (n.*3614T>A) c.12510T>A (p.Phe4170Leu) c.12543T>A (p.Phe4181Leu) c.4699T>A c.12522T>A (p.Phe4174Leu) c.2575T>A c.12474T>A (p.Phe4158Leu) n.3717T>A c.12576T>A (p.Phe4192Leu) c.12573T>A (p.Phe4191Leu) c.12552T>A (p.Phe4184Leu) c.12546T>A (p.Phe4182Leu) c.12540T>A (p.Phe4180Leu) c.12516T>A (p.Phe4172Leu) c.12339T>A (p.Phe4113Leu) c.12483T>A (p.Phe4161Leu) c.12555T>A (p.Phe4185Leu) | |
| 1 | g.237784234T>C | CA424032289 | RYR2 | c.*3614T>C (n.*3614T>C) c.12510T>C (p.Phe4170=) c.12543T>C (p.Phe4181=) c.4699T>C c.12522T>C (p.Phe4174=) c.2575T>C c.12474T>C (p.Phe4158=) n.3717T>C c.12576T>C (p.Phe4192=) c.12573T>C (p.Phe4191=) c.12552T>C (p.Phe4184=) c.12546T>C (p.Phe4182=) c.12540T>C (p.Phe4180=) c.12516T>C (p.Phe4172=) c.12339T>C (p.Phe4113=) c.12483T>C (p.Phe4161=) c.12555T>C (p.Phe4185=) | |
| 1 | g.237784234T>G | CA345413542 | RYR2 | c.*3614T>G (n.*3614T>G) c.12510T>G (p.Phe4170Leu) c.12543T>G (p.Phe4181Leu) c.4699T>G c.12522T>G (p.Phe4174Leu) c.2575T>G c.12474T>G (p.Phe4158Leu) n.3717T>G c.12576T>G (p.Phe4192Leu) c.12573T>G (p.Phe4191Leu) c.12552T>G (p.Phe4184Leu) c.12546T>G (p.Phe4182Leu) c.12540T>G (p.Phe4180Leu) c.12516T>G (p.Phe4172Leu) c.12339T>G (p.Phe4113Leu) c.12483T>G (p.Phe4161Leu) c.12555T>G (p.Phe4185Leu) | |
| 1 | g.237784235G>A | CA345413543 | RYR2 | c.*3615G>A (n.*3615G>A) c.12511G>A (p.Asp4171Asn) c.12544G>A (p.Asp4182Asn) c.4700G>A c.12523G>A (p.Asp4175Asn) c.2576G>A c.12475G>A (p.Asp4159Asn) n.3718G>A c.12577G>A (p.Asp4193Asn) c.12574G>A (p.Asp4192Asn) c.12553G>A (p.Asp4185Asn) c.12547G>A (p.Asp4183Asn) c.12541G>A (p.Asp4181Asn) c.12517G>A (p.Asp4173Asn) c.12340G>A (p.Asp4114Asn) c.12484G>A (p.Asp4162Asn) c.12556G>A (p.Asp4186Asn) | |
| 1 | g.237784235G>C | CA345413545 | RYR2 | c.*3615G>C (n.*3615G>C) c.12511G>C (p.Asp4171His) c.12544G>C (p.Asp4182His) c.4700G>C c.12523G>C (p.Asp4175His) c.2576G>C c.12475G>C (p.Asp4159His) n.3718G>C c.12577G>C (p.Asp4193His) c.12574G>C (p.Asp4192His) c.12553G>C (p.Asp4185His) c.12547G>C (p.Asp4183His) c.12541G>C (p.Asp4181His) c.12517G>C (p.Asp4173His) c.12340G>C (p.Asp4114His) c.12484G>C (p.Asp4162His) c.12556G>C (p.Asp4186His) | |
| 1 | g.237784235G>T | CA345413544 | RYR2 | c.*3615G>T (n.*3615G>T) c.12511G>T (p.Asp4171Tyr) c.12544G>T (p.Asp4182Tyr) c.4700G>T c.12523G>T (p.Asp4175Tyr) c.2576G>T c.12475G>T (p.Asp4159Tyr) n.3718G>T c.12577G>T (p.Asp4193Tyr) c.12574G>T (p.Asp4192Tyr) c.12553G>T (p.Asp4185Tyr) c.12547G>T (p.Asp4183Tyr) c.12541G>T (p.Asp4181Tyr) c.12517G>T (p.Asp4173Tyr) c.12340G>T (p.Asp4114Tyr) c.12484G>T (p.Asp4162Tyr) c.12556G>T (p.Asp4186Tyr) | |
| 1 | g.237784236A>C | CA345413546 | RYR2 | c.*3616A>C (n.*3616A>C) c.12512A>C (p.Asp4171Ala) c.12545A>C (p.Asp4182Ala) c.4701A>C c.12524A>C (p.Asp4175Ala) c.2577A>C c.12476A>C (p.Asp4159Ala) n.3719A>C c.12578A>C (p.Asp4193Ala) c.12575A>C (p.Asp4192Ala) c.12554A>C (p.Asp4185Ala) c.12548A>C (p.Asp4183Ala) c.12542A>C (p.Asp4181Ala) c.12518A>C (p.Asp4173Ala) c.12341A>C (p.Asp4114Ala) c.12485A>C (p.Asp4162Ala) c.12557A>C (p.Asp4186Ala) | |
| 1 | g.237784236A>G | CA345413548 | RYR2 | c.*3616A>G (n.*3616A>G) c.12512A>G (p.Asp4171Gly) c.12545A>G (p.Asp4182Gly) c.4701A>G c.12524A>G (p.Asp4175Gly) c.2577A>G c.12476A>G (p.Asp4159Gly) n.3719A>G c.12578A>G (p.Asp4193Gly) c.12575A>G (p.Asp4192Gly) c.12554A>G (p.Asp4185Gly) c.12548A>G (p.Asp4183Gly) c.12542A>G (p.Asp4181Gly) c.12518A>G (p.Asp4173Gly) c.12341A>G (p.Asp4114Gly) c.12485A>G (p.Asp4162Gly) c.12557A>G (p.Asp4186Gly) | |
| 1 | g.237784236A>T | CA345413547 | RYR2 | c.*3616A>T (n.*3616A>T) c.12512A>T (p.Asp4171Val) c.12545A>T (p.Asp4182Val) c.4701A>T c.12524A>T (p.Asp4175Val) c.2577A>T c.12476A>T (p.Asp4159Val) n.3719A>T c.12578A>T (p.Asp4193Val) c.12575A>T (p.Asp4192Val) c.12554A>T (p.Asp4185Val) c.12548A>T (p.Asp4183Val) c.12542A>T (p.Asp4181Val) c.12518A>T (p.Asp4173Val) c.12341A>T (p.Asp4114Val) c.12485A>T (p.Asp4162Val) c.12557A>T (p.Asp4186Val) | |
| 1 | g.237784237C>A | CA345413549 | RYR2 | c.*3617C>A (n.*3617C>A) c.12513C>A (p.Asp4171Glu) c.12546C>A (p.Asp4182Glu) c.4702C>A c.12525C>A (p.Asp4175Glu) c.2578C>A c.12477C>A (p.Asp4159Glu) n.3720C>A c.12579C>A (p.Asp4193Glu) c.12576C>A (p.Asp4192Glu) c.12555C>A (p.Asp4185Glu) c.12549C>A (p.Asp4183Glu) c.12543C>A (p.Asp4181Glu) c.12519C>A (p.Asp4173Glu) c.12342C>A (p.Asp4114Glu) c.12486C>A (p.Asp4162Glu) c.12558C>A (p.Asp4186Glu) | ClinVar dbSNP |
| 1 | g.237784237C= | CA2487482436 | RYR2 | c.*3617C= (n.*3617C=) c.12513C= (p.Asp4171=) c.12546C= (p.Asp4182=) c.4702C= c.12525C= (p.Asp4175=) c.2578C= c.12477C= (p.Asp4159=) n.3720C= c.12579C= (p.Asp4193=) c.12576C= (p.Asp4192=) c.12555C= (p.Asp4185=) c.12549C= (p.Asp4183=) c.12543C= (p.Asp4181=) c.12519C= (p.Asp4173=) c.12342C= (p.Asp4114=) c.12486C= (p.Asp4162=) c.12558C= (p.Asp4186=) | |
| 1 | g.237784237C>G | CA345413550 | RYR2 | c.*3617C>G (n.*3617C>G) c.12513C>G (p.Asp4171Glu) c.12546C>G (p.Asp4182Glu) c.4702C>G c.12525C>G (p.Asp4175Glu) c.2578C>G c.12477C>G (p.Asp4159Glu) n.3720C>G c.12579C>G (p.Asp4193Glu) c.12576C>G (p.Asp4192Glu) c.12555C>G (p.Asp4185Glu) c.12549C>G (p.Asp4183Glu) c.12543C>G (p.Asp4181Glu) c.12519C>G (p.Asp4173Glu) c.12342C>G (p.Asp4114Glu) c.12486C>G (p.Asp4162Glu) c.12558C>G (p.Asp4186Glu) | |
| 1 | g.237784237C>T | CA424032290 | RYR2 | c.*3617C>T (n.*3617C>T) c.12513C>T (p.Asp4171=) c.12546C>T (p.Asp4182=) c.4702C>T c.12525C>T (p.Asp4175=) c.2578C>T c.12477C>T (p.Asp4159=) n.3720C>T c.12579C>T (p.Asp4193=) c.12576C>T (p.Asp4192=) c.12555C>T (p.Asp4185=) c.12549C>T (p.Asp4183=) c.12543C>T (p.Asp4181=) c.12519C>T (p.Asp4173=) c.12342C>T (p.Asp4114=) c.12486C>T (p.Asp4162=) c.12558C>T (p.Asp4186=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237784238G>A | CA007563 | RYR2 | c.*3618G>A (n.*3618G>A) c.12514G>A (p.Val4172Met) c.12547G>A (p.Val4183Met) c.4703G>A c.12526G>A (p.Val4176Met) c.2579G>A c.12478G>A (p.Val4160Met) n.3721G>A c.12580G>A (p.Val4194Met) c.12577G>A (p.Val4193Met) c.12556G>A (p.Val4186Met) c.12550G>A (p.Val4184Met) c.12544G>A (p.Val4182Met) c.12520G>A (p.Val4174Met) c.12343G>A (p.Val4115Met) c.12487G>A (p.Val4163Met) c.12559G>A (p.Val4187Met) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237784238G>C | CA345413551 | RYR2 | c.*3618G>C (n.*3618G>C) c.12514G>C (p.Val4172Leu) c.12547G>C (p.Val4183Leu) c.4703G>C c.12526G>C (p.Val4176Leu) c.2579G>C c.12478G>C (p.Val4160Leu) n.3721G>C c.12580G>C (p.Val4194Leu) c.12577G>C (p.Val4193Leu) c.12556G>C (p.Val4186Leu) c.12550G>C (p.Val4184Leu) c.12544G>C (p.Val4182Leu) c.12520G>C (p.Val4174Leu) c.12343G>C (p.Val4115Leu) c.12487G>C (p.Val4163Leu) c.12559G>C (p.Val4187Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237784238G= | CA2487482437 | RYR2 | c.*3618G= (n.*3618G=) c.12514G= (p.Val4172=) c.12547G= (p.Val4183=) c.4703G= c.12526G= (p.Val4176=) c.2579G= c.12478G= (p.Val4160=) n.3721G= c.12580G= (p.Val4194=) c.12577G= (p.Val4193=) c.12556G= (p.Val4186=) c.12550G= (p.Val4184=) c.12544G= (p.Val4182=) c.12520G= (p.Val4174=) c.12343G= (p.Val4115=) c.12487G= (p.Val4163=) c.12559G= (p.Val4187=) | |
| 1 | g.237784238G>T | CA345413552 | RYR2 | c.*3618G>T (n.*3618G>T) c.12514G>T (p.Val4172Leu) c.12547G>T (p.Val4183Leu) c.4703G>T c.12526G>T (p.Val4176Leu) c.2579G>T c.12478G>T (p.Val4160Leu) n.3721G>T c.12580G>T (p.Val4194Leu) c.12577G>T (p.Val4193Leu) c.12556G>T (p.Val4186Leu) c.12550G>T (p.Val4184Leu) c.12544G>T (p.Val4182Leu) c.12520G>T (p.Val4174Leu) c.12343G>T (p.Val4115Leu) c.12487G>T (p.Val4163Leu) c.12559G>T (p.Val4187Leu) | |
| 1 | g.237784239T>A | CA345413553 | RYR2 | c.*3619T>A (n.*3619T>A) c.12515T>A (p.Val4172Glu) c.12548T>A (p.Val4183Glu) c.4704T>A c.12527T>A (p.Val4176Glu) c.2580T>A c.12479T>A (p.Val4160Glu) n.3722T>A c.12581T>A (p.Val4194Glu) c.12578T>A (p.Val4193Glu) c.12557T>A (p.Val4186Glu) c.12551T>A (p.Val4184Glu) c.12545T>A (p.Val4182Glu) c.12521T>A (p.Val4174Glu) c.12344T>A (p.Val4115Glu) c.12488T>A (p.Val4163Glu) c.12560T>A (p.Val4187Glu) | |
| 1 | g.237784239T>C | CA345413554 | RYR2 | c.*3619T>C (n.*3619T>C) c.12515T>C (p.Val4172Ala) c.12548T>C (p.Val4183Ala) c.4704T>C c.12527T>C (p.Val4176Ala) c.2580T>C c.12479T>C (p.Val4160Ala) n.3722T>C c.12581T>C (p.Val4194Ala) c.12578T>C (p.Val4193Ala) c.12557T>C (p.Val4186Ala) c.12551T>C (p.Val4184Ala) c.12545T>C (p.Val4182Ala) c.12521T>C (p.Val4174Ala) c.12344T>C (p.Val4115Ala) c.12488T>C (p.Val4163Ala) c.12560T>C (p.Val4187Ala) | COSMIC COSMIC |
| 1 | g.237784239T>G | CA345413555 | RYR2 | c.*3619T>G (n.*3619T>G) c.12515T>G (p.Val4172Gly) c.12548T>G (p.Val4183Gly) c.4704T>G c.12527T>G (p.Val4176Gly) c.2580T>G c.12479T>G (p.Val4160Gly) n.3722T>G c.12581T>G (p.Val4194Gly) c.12578T>G (p.Val4193Gly) c.12557T>G (p.Val4186Gly) c.12551T>G (p.Val4184Gly) c.12545T>G (p.Val4182Gly) c.12521T>G (p.Val4174Gly) c.12344T>G (p.Val4115Gly) c.12488T>G (p.Val4163Gly) c.12560T>G (p.Val4187Gly) | |
| 1 | g.237784240G>A | CA066489 | RYR2 | c.*3620G>A (n.*3620G>A) c.12516G>A (p.Val4172=) c.12549G>A (p.Val4183=) c.4705G>A c.12528G>A (p.Val4176=) c.2581G>A c.12480G>A (p.Val4160=) n.3723G>A c.12582G>A (p.Val4194=) c.12579G>A (p.Val4193=) c.12558G>A (p.Val4186=) c.12552G>A (p.Val4184=) c.12546G>A (p.Val4182=) c.12522G>A (p.Val4174=) c.12345G>A (p.Val4115=) c.12489G>A (p.Val4163=) c.12561G>A (p.Val4187=) | |
| 1 | g.237784240G>C | CA424032295 | RYR2 | c.*3620G>C (n.*3620G>C) c.12516G>C (p.Val4172=) c.12549G>C (p.Val4183=) c.4705G>C c.12528G>C (p.Val4176=) c.2581G>C c.12480G>C (p.Val4160=) n.3723G>C c.12582G>C (p.Val4194=) c.12579G>C (p.Val4193=) c.12558G>C (p.Val4186=) c.12552G>C (p.Val4184=) c.12546G>C (p.Val4182=) c.12522G>C (p.Val4174=) c.12345G>C (p.Val4115=) c.12489G>C (p.Val4163=) c.12561G>C (p.Val4187=) | |
| 1 | g.237784240G>T | CA424032294 | RYR2 | c.*3620G>T (n.*3620G>T) c.12516G>T (p.Val4172=) c.12549G>T (p.Val4183=) c.4705G>T c.12528G>T (p.Val4176=) c.2581G>T c.12480G>T (p.Val4160=) n.3723G>T c.12582G>T (p.Val4194=) c.12579G>T (p.Val4193=) c.12558G>T (p.Val4186=) c.12552G>T (p.Val4184=) c.12546G>T (p.Val4182=) c.12522G>T (p.Val4174=) c.12345G>T (p.Val4115=) c.12489G>T (p.Val4163=) c.12561G>T (p.Val4187=) | |
| 1 | g.237784241G>A | CA345413556 | RYR2 | c.*3621G>A (n.*3621G>A) c.12517G>A (p.Val4173Ile) c.12550G>A (p.Val4184Ile) c.4706G>A c.12529G>A (p.Val4177Ile) c.2582G>A c.12481G>A (p.Val4161Ile) n.3724G>A c.12583G>A (p.Val4195Ile) c.12580G>A (p.Val4194Ile) c.12559G>A (p.Val4187Ile) c.12553G>A (p.Val4185Ile) c.12547G>A (p.Val4183Ile) c.12523G>A (p.Val4175Ile) c.12346G>A (p.Val4116Ile) c.12490G>A (p.Val4164Ile) c.12562G>A (p.Val4188Ile) | COSMIC COSMIC |
| 1 | g.237784241G>C | CA345413557 | RYR2 | c.*3621G>C (n.*3621G>C) c.12517G>C (p.Val4173Leu) c.12550G>C (p.Val4184Leu) c.4706G>C c.12529G>C (p.Val4177Leu) c.2582G>C c.12481G>C (p.Val4161Leu) n.3724G>C c.12583G>C (p.Val4195Leu) c.12580G>C (p.Val4194Leu) c.12559G>C (p.Val4187Leu) c.12553G>C (p.Val4185Leu) c.12547G>C (p.Val4183Leu) c.12523G>C (p.Val4175Leu) c.12346G>C (p.Val4116Leu) c.12490G>C (p.Val4164Leu) c.12562G>C (p.Val4188Leu) | |
| 1 | g.237784241G>T | CA345413558 | RYR2 | c.*3621G>T (n.*3621G>T) c.12517G>T (p.Val4173Phe) c.12550G>T (p.Val4184Phe) c.4706G>T c.12529G>T (p.Val4177Phe) c.2582G>T c.12481G>T (p.Val4161Phe) n.3724G>T c.12583G>T (p.Val4195Phe) c.12580G>T (p.Val4194Phe) c.12559G>T (p.Val4187Phe) c.12553G>T (p.Val4185Phe) c.12547G>T (p.Val4183Phe) c.12523G>T (p.Val4175Phe) c.12346G>T (p.Val4116Phe) c.12490G>T (p.Val4164Phe) c.12562G>T (p.Val4188Phe) | |
| 1 | g.237784242T>A | CA345413561 | RYR2 | c.*3622T>A (n.*3622T>A) c.12518T>A (p.Val4173Asp) c.12551T>A (p.Val4184Asp) c.4707T>A c.12530T>A (p.Val4177Asp) c.2583T>A c.12482T>A (p.Val4161Asp) n.3725T>A c.12584T>A (p.Val4195Asp) c.12581T>A (p.Val4194Asp) c.12560T>A (p.Val4187Asp) c.12554T>A (p.Val4185Asp) c.12548T>A (p.Val4183Asp) c.12524T>A (p.Val4175Asp) c.12347T>A (p.Val4116Asp) c.12491T>A (p.Val4164Asp) c.12563T>A (p.Val4188Asp) | ClinVar dbSNP |
| 1 | g.237784242T>C | CA345413560 | RYR2 | c.*3622T>C (n.*3622T>C) c.12518T>C (p.Val4173Ala) c.12551T>C (p.Val4184Ala) c.4707T>C c.12530T>C (p.Val4177Ala) c.2583T>C c.12482T>C (p.Val4161Ala) n.3725T>C c.12584T>C (p.Val4195Ala) c.12581T>C (p.Val4194Ala) c.12560T>C (p.Val4187Ala) c.12554T>C (p.Val4185Ala) c.12548T>C (p.Val4183Ala) c.12524T>C (p.Val4175Ala) c.12347T>C (p.Val4116Ala) c.12491T>C (p.Val4164Ala) c.12563T>C (p.Val4188Ala) | ClinVar dbSNP |
| 1 | g.237784242T>G | CA345413559 | RYR2 | c.*3622T>G (n.*3622T>G) c.12518T>G (p.Val4173Gly) c.12551T>G (p.Val4184Gly) c.4707T>G c.12530T>G (p.Val4177Gly) c.2583T>G c.12482T>G (p.Val4161Gly) n.3725T>G c.12584T>G (p.Val4195Gly) c.12581T>G (p.Val4194Gly) c.12560T>G (p.Val4187Gly) c.12554T>G (p.Val4185Gly) c.12548T>G (p.Val4183Gly) c.12524T>G (p.Val4175Gly) c.12347T>G (p.Val4116Gly) c.12491T>G (p.Val4164Gly) c.12563T>G (p.Val4188Gly) | |
| 1 | g.237784242T= | CA2487482438 | RYR2 | c.*3622T= (n.*3622T=) c.12518T= (p.Val4173=) c.12551T= (p.Val4184=) c.4707T= c.12530T= (p.Val4177=) c.2583T= c.12482T= (p.Val4161=) n.3725T= c.12584T= (p.Val4195=) c.12581T= (p.Val4194=) c.12560T= (p.Val4187=) c.12554T= (p.Val4185=) c.12548T= (p.Val4183=) c.12524T= (p.Val4175=) c.12347T= (p.Val4116=) c.12491T= (p.Val4164=) c.12563T= (p.Val4188=) | |
| 1 | g.237784243C>A | CA424032296 | RYR2 | c.*3623C>A (n.*3623C>A) c.12519C>A (p.Val4173=) c.12552C>A (p.Val4184=) c.4708C>A c.12531C>A (p.Val4177=) c.2584C>A c.12483C>A (p.Val4161=) n.3726C>A c.12585C>A (p.Val4195=) c.12582C>A (p.Val4194=) c.12561C>A (p.Val4187=) c.12555C>A (p.Val4185=) c.12549C>A (p.Val4183=) c.12525C>A (p.Val4175=) c.12348C>A (p.Val4116=) c.12492C>A (p.Val4164=) c.12564C>A (p.Val4188=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237784243C= | CA2487482439 | RYR2 | c.*3623C= (n.*3623C=) c.12519C= (p.Val4173=) c.12552C= (p.Val4184=) c.4708C= c.12531C= (p.Val4177=) c.2584C= c.12483C= (p.Val4161=) n.3726C= c.12585C= (p.Val4195=) c.12582C= (p.Val4194=) c.12561C= (p.Val4187=) c.12555C= (p.Val4185=) c.12549C= (p.Val4183=) c.12525C= (p.Val4175=) c.12348C= (p.Val4116=) c.12492C= (p.Val4164=) c.12564C= (p.Val4188=) | |
| 1 | g.237784243C>G | CA424032297 | RYR2 | c.*3623C>G (n.*3623C>G) c.12519C>G (p.Val4173=) c.12552C>G (p.Val4184=) c.4708C>G c.12531C>G (p.Val4177=) c.2584C>G c.12483C>G (p.Val4161=) n.3726C>G c.12585C>G (p.Val4195=) c.12582C>G (p.Val4194=) c.12561C>G (p.Val4187=) c.12555C>G (p.Val4185=) c.12549C>G (p.Val4183=) c.12525C>G (p.Val4175=) c.12348C>G (p.Val4116=) c.12492C>G (p.Val4164=) c.12564C>G (p.Val4188=) | |
| 1 | g.237784243C>T | CA424032298 | RYR2 | c.*3623C>T (n.*3623C>T) c.12519C>T (p.Val4173=) c.12552C>T (p.Val4184=) c.4708C>T c.12531C>T (p.Val4177=) c.2584C>T c.12483C>T (p.Val4161=) n.3726C>T c.12585C>T (p.Val4195=) c.12582C>T (p.Val4194=) c.12561C>T (p.Val4187=) c.12555C>T (p.Val4185=) c.12549C>T (p.Val4183=) c.12525C>T (p.Val4175=) c.12348C>T (p.Val4116=) c.12492C>T (p.Val4164=) c.12564C>T (p.Val4188=) | |
| 1 | g.237784244A= | CA2487482440 | RYR2 | c.*3624A= (n.*3624A=) c.12520A= (p.Asn4174=) c.12553A= (p.Asn4185=) c.4709A= c.12532A= (p.Asn4178=) c.2585A= c.12484A= (p.Asn4162=) n.3727A= c.12586A= (p.Asn4196=) c.12583A= (p.Asn4195=) c.12562A= (p.Asn4188=) c.12556A= (p.Asn4186=) c.12550A= (p.Asn4184=) c.12526A= (p.Asn4176=) c.12349A= (p.Asn4117=) c.12493A= (p.Asn4165=) c.12565A= (p.Asn4189=) | |
| 1 | g.237784244A>C | CA345413562 | RYR2 | c.*3624A>C (n.*3624A>C) c.12520A>C (p.Asn4174His) c.12553A>C (p.Asn4185His) c.4709A>C c.12532A>C (p.Asn4178His) c.2585A>C c.12484A>C (p.Asn4162His) n.3727A>C c.12586A>C (p.Asn4196His) c.12583A>C (p.Asn4195His) c.12562A>C (p.Asn4188His) c.12556A>C (p.Asn4186His) c.12550A>C (p.Asn4184His) c.12526A>C (p.Asn4176His) c.12349A>C (p.Asn4117His) c.12493A>C (p.Asn4165His) c.12565A>C (p.Asn4189His) | |
| 1 | g.237784244A>G | CA345413563 | RYR2 | c.*3624A>G (n.*3624A>G) c.12520A>G (p.Asn4174Asp) c.12553A>G (p.Asn4185Asp) c.4709A>G c.12532A>G (p.Asn4178Asp) c.2585A>G c.12484A>G (p.Asn4162Asp) n.3727A>G c.12586A>G (p.Asn4196Asp) c.12583A>G (p.Asn4195Asp) c.12562A>G (p.Asn4188Asp) c.12556A>G (p.Asn4186Asp) c.12550A>G (p.Asn4184Asp) c.12526A>G (p.Asn4176Asp) c.12349A>G (p.Asn4117Asp) c.12493A>G (p.Asn4165Asp) c.12565A>G (p.Asn4189Asp) | |
| 1 | g.237784244A>T | CA345413564 | RYR2 | c.*3624A>T (n.*3624A>T) c.12520A>T (p.Asn4174Tyr) c.12553A>T (p.Asn4185Tyr) c.4709A>T c.12532A>T (p.Asn4178Tyr) c.2585A>T c.12484A>T (p.Asn4162Tyr) n.3727A>T c.12586A>T (p.Asn4196Tyr) c.12583A>T (p.Asn4195Tyr) c.12562A>T (p.Asn4188Tyr) c.12556A>T (p.Asn4186Tyr) c.12550A>T (p.Asn4184Tyr) c.12526A>T (p.Asn4176Tyr) c.12349A>T (p.Asn4117Tyr) c.12493A>T (p.Asn4165Tyr) c.12565A>T (p.Asn4189Tyr) | ClinVar dbSNP |
| 1 | g.237784245A= | CA2487482441 | RYR2 | c.*3625A= (n.*3625A=) c.12521A= (p.Asn4174=) c.12554A= (p.Asn4185=) c.4710A= c.12533A= (p.Asn4178=) c.2586A= c.12485A= (p.Asn4162=) n.3728A= c.12587A= (p.Asn4196=) c.12584A= (p.Asn4195=) c.12563A= (p.Asn4188=) c.12557A= (p.Asn4186=) c.12551A= (p.Asn4184=) c.12527A= (p.Asn4176=) c.12350A= (p.Asn4117=) c.12494A= (p.Asn4165=) c.12566A= (p.Asn4189=) | |
| 1 | g.237784245A>C | CA345413565 | RYR2 | c.*3625A>C (n.*3625A>C) c.12521A>C (p.Asn4174Thr) c.12554A>C (p.Asn4185Thr) c.4710A>C c.12533A>C (p.Asn4178Thr) c.2586A>C c.12485A>C (p.Asn4162Thr) n.3728A>C c.12587A>C (p.Asn4196Thr) c.12584A>C (p.Asn4195Thr) c.12563A>C (p.Asn4188Thr) c.12557A>C (p.Asn4186Thr) c.12551A>C (p.Asn4184Thr) c.12527A>C (p.Asn4176Thr) c.12350A>C (p.Asn4117Thr) c.12494A>C (p.Asn4165Thr) c.12566A>C (p.Asn4189Thr) | |
| 1 | g.237784245A>G | CA007573 | RYR2 | c.*3625A>G (n.*3625A>G) c.12521A>G (p.Asn4174Ser) c.12554A>G (p.Asn4185Ser) c.4710A>G c.12533A>G (p.Asn4178Ser) c.2586A>G c.12485A>G (p.Asn4162Ser) n.3728A>G c.12587A>G (p.Asn4196Ser) c.12584A>G (p.Asn4195Ser) c.12563A>G (p.Asn4188Ser) c.12557A>G (p.Asn4186Ser) c.12551A>G (p.Asn4184Ser) c.12527A>G (p.Asn4176Ser) c.12350A>G (p.Asn4117Ser) c.12494A>G (p.Asn4165Ser) c.12566A>G (p.Asn4189Ser) | ClinVar dbSNP |
| 1 | g.237784245A>T | CA345413566 | RYR2 | c.*3625A>T (n.*3625A>T) c.12521A>T (p.Asn4174Ile) c.12554A>T (p.Asn4185Ile) c.4710A>T c.12533A>T (p.Asn4178Ile) c.2586A>T c.12485A>T (p.Asn4162Ile) n.3728A>T c.12587A>T (p.Asn4196Ile) c.12584A>T (p.Asn4195Ile) c.12563A>T (p.Asn4188Ile) c.12557A>T (p.Asn4186Ile) c.12551A>T (p.Asn4184Ile) c.12527A>T (p.Asn4176Ile) c.12350A>T (p.Asn4117Ile) c.12494A>T (p.Asn4165Ile) c.12566A>T (p.Asn4189Ile) | |
| 1 | g.237784246C>A | CA345413567 | RYR2 | c.*3626C>A (n.*3626C>A) c.12522C>A (p.Asn4174Lys) c.12555C>A (p.Asn4185Lys) c.4711C>A c.12534C>A (p.Asn4178Lys) c.2587C>A c.12486C>A (p.Asn4162Lys) n.3729C>A c.12588C>A (p.Asn4196Lys) c.12585C>A (p.Asn4195Lys) c.12564C>A (p.Asn4188Lys) c.12558C>A (p.Asn4186Lys) c.12552C>A (p.Asn4184Lys) c.12528C>A (p.Asn4176Lys) c.12351C>A (p.Asn4117Lys) c.12495C>A (p.Asn4165Lys) c.12567C>A (p.Asn4189Lys) | |
| 1 | g.237784246C= | CA2487482442 | RYR2 | c.*3626C= (n.*3626C=) c.12522C= (p.Asn4174=) c.12555C= (p.Asn4185=) c.4711C= c.12534C= (p.Asn4178=) c.2587C= c.12486C= (p.Asn4162=) n.3729C= c.12588C= (p.Asn4196=) c.12585C= (p.Asn4195=) c.12564C= (p.Asn4188=) c.12558C= (p.Asn4186=) c.12552C= (p.Asn4184=) c.12528C= (p.Asn4176=) c.12351C= (p.Asn4117=) c.12495C= (p.Asn4165=) c.12567C= (p.Asn4189=) | |
| 1 | g.237784246C>G | CA345413568 | RYR2 | c.*3626C>G (n.*3626C>G) c.12522C>G (p.Asn4174Lys) c.12555C>G (p.Asn4185Lys) c.4711C>G c.12534C>G (p.Asn4178Lys) c.2587C>G c.12486C>G (p.Asn4162Lys) n.3729C>G c.12588C>G (p.Asn4196Lys) c.12585C>G (p.Asn4195Lys) c.12564C>G (p.Asn4188Lys) c.12558C>G (p.Asn4186Lys) c.12552C>G (p.Asn4184Lys) c.12528C>G (p.Asn4176Lys) c.12351C>G (p.Asn4117Lys) c.12495C>G (p.Asn4165Lys) c.12567C>G (p.Asn4189Lys) | |
| 1 | g.237784246C>T | CA424032301 | RYR2 | c.*3626C>T (n.*3626C>T) c.12522C>T (p.Asn4174=) c.12555C>T (p.Asn4185=) c.4711C>T c.12534C>T (p.Asn4178=) c.2587C>T c.12486C>T (p.Asn4162=) n.3729C>T c.12588C>T (p.Asn4196=) c.12585C>T (p.Asn4195=) c.12564C>T (p.Asn4188=) c.12558C>T (p.Asn4186=) c.12552C>T (p.Asn4184=) c.12528C>T (p.Asn4176=) c.12351C>T (p.Asn4117=) c.12495C>T (p.Asn4165=) c.12567C>T (p.Asn4189=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237784247G>A | CA39827745 | RYR2 | c.*3627G>A (n.*3627G>A) c.12523G>A (p.Glu4175Lys) c.12556G>A (p.Glu4186Lys) c.4712G>A c.12535G>A (p.Glu4179Lys) c.2588G>A c.12487G>A (p.Glu4163Lys) n.3730G>A c.12589G>A (p.Glu4197Lys) c.12586G>A (p.Glu4196Lys) c.12565G>A (p.Glu4189Lys) c.12559G>A (p.Glu4187Lys) c.12553G>A (p.Glu4185Lys) c.12529G>A (p.Glu4177Lys) c.12352G>A (p.Glu4118Lys) c.12496G>A (p.Glu4166Lys) c.12568G>A (p.Glu4190Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.237784247G>C | CA345413569 | RYR2 | c.*3627G>C (n.*3627G>C) c.12523G>C (p.Glu4175Gln) c.12556G>C (p.Glu4186Gln) c.4712G>C c.12535G>C (p.Glu4179Gln) c.2588G>C c.12487G>C (p.Glu4163Gln) n.3730G>C c.12589G>C (p.Glu4197Gln) c.12586G>C (p.Glu4196Gln) c.12565G>C (p.Glu4189Gln) c.12559G>C (p.Glu4187Gln) c.12553G>C (p.Glu4185Gln) c.12529G>C (p.Glu4177Gln) c.12352G>C (p.Glu4118Gln) c.12496G>C (p.Glu4166Gln) c.12568G>C (p.Glu4190Gln) | gnomAD v4 |
| 1 | g.237784247G= | CA2487482443 | RYR2 | c.*3627G= (n.*3627G=) c.12523G= (p.Glu4175=) c.12556G= (p.Glu4186=) c.4712G= c.12535G= (p.Glu4179=) c.2588G= c.12487G= (p.Glu4163=) n.3730G= c.12589G= (p.Glu4197=) c.12586G= (p.Glu4196=) c.12565G= (p.Glu4189=) c.12559G= (p.Glu4187=) c.12553G= (p.Glu4185=) c.12529G= (p.Glu4177=) c.12352G= (p.Glu4118=) c.12496G= (p.Glu4166=) c.12568G= (p.Glu4190=) | |
| 1 | g.237784247G>T | CA345413570 | RYR2 | c.*3627G>T (n.*3627G>T) c.12523G>T (p.Glu4175Ter) c.12556G>T (p.Glu4186Ter) c.4712G>T c.12535G>T (p.Glu4179Ter) c.2588G>T c.12487G>T (p.Glu4163Ter) n.3730G>T c.12589G>T (p.Glu4197Ter) c.12586G>T (p.Glu4196Ter) c.12565G>T (p.Glu4189Ter) c.12559G>T (p.Glu4187Ter) c.12553G>T (p.Glu4185Ter) c.12529G>T (p.Glu4177Ter) c.12352G>T (p.Glu4118Ter) c.12496G>T (p.Glu4166Ter) c.12568G>T (p.Glu4190Ter) | |
| 1 | g.237784248A>C | CA345413573 | RYR2 | c.*3628A>C (n.*3628A>C) c.12524A>C (p.Glu4175Ala) c.12557A>C (p.Glu4186Ala) c.4713A>C c.12536A>C (p.Glu4179Ala) c.2589A>C c.12488A>C (p.Glu4163Ala) n.3731A>C c.12590A>C (p.Glu4197Ala) c.12587A>C (p.Glu4196Ala) c.12566A>C (p.Glu4189Ala) c.12560A>C (p.Glu4187Ala) c.12554A>C (p.Glu4185Ala) c.12530A>C (p.Glu4177Ala) c.12353A>C (p.Glu4118Ala) c.12497A>C (p.Glu4166Ala) c.12569A>C (p.Glu4190Ala) | |
| 1 | g.237784248A>G | CA345413572 | RYR2 | c.*3628A>G (n.*3628A>G) c.12524A>G (p.Glu4175Gly) c.12557A>G (p.Glu4186Gly) c.4713A>G c.12536A>G (p.Glu4179Gly) c.2589A>G c.12488A>G (p.Glu4163Gly) n.3731A>G c.12590A>G (p.Glu4197Gly) c.12587A>G (p.Glu4196Gly) c.12566A>G (p.Glu4189Gly) c.12560A>G (p.Glu4187Gly) c.12554A>G (p.Glu4185Gly) c.12530A>G (p.Glu4177Gly) c.12353A>G (p.Glu4118Gly) c.12497A>G (p.Glu4166Gly) c.12569A>G (p.Glu4190Gly) | |
| 1 | g.237784248A>T | CA345413571 | RYR2 | c.*3628A>T (n.*3628A>T) c.12524A>T (p.Glu4175Val) c.12557A>T (p.Glu4186Val) c.4713A>T c.12536A>T (p.Glu4179Val) c.2589A>T c.12488A>T (p.Glu4163Val) n.3731A>T c.12590A>T (p.Glu4197Val) c.12587A>T (p.Glu4196Val) c.12566A>T (p.Glu4189Val) c.12560A>T (p.Glu4187Val) c.12554A>T (p.Glu4185Val) c.12530A>T (p.Glu4177Val) c.12353A>T (p.Glu4118Val) c.12497A>T (p.Glu4166Val) c.12569A>T (p.Glu4190Val) | |
| 1 | g.237784249A>C | CA345413574 | RYR2 | c.*3629A>C (n.*3629A>C) c.12525A>C (p.Glu4175Asp) c.12558A>C (p.Glu4186Asp) c.4714A>C c.12537A>C (p.Glu4179Asp) c.2590A>C c.12489A>C (p.Glu4163Asp) n.3732A>C c.12591A>C (p.Glu4197Asp) c.12588A>C (p.Glu4196Asp) c.12567A>C (p.Glu4189Asp) c.12561A>C (p.Glu4187Asp) c.12555A>C (p.Glu4185Asp) c.12531A>C (p.Glu4177Asp) c.12354A>C (p.Glu4118Asp) c.12498A>C (p.Glu4166Asp) c.12570A>C (p.Glu4190Asp) | |
| 1 | g.237784249A>G | CA066495 | RYR2 | c.*3629A>G (n.*3629A>G) c.12525A>G (p.Glu4175=) c.12558A>G (p.Glu4186=) c.4714A>G c.12537A>G (p.Glu4179=) c.2590A>G c.12489A>G (p.Glu4163=) n.3732A>G c.12591A>G (p.Glu4197=) c.12588A>G (p.Glu4196=) c.12567A>G (p.Glu4189=) c.12561A>G (p.Glu4187=) c.12555A>G (p.Glu4185=) c.12531A>G (p.Glu4177=) c.12354A>G (p.Glu4118=) c.12498A>G (p.Glu4166=) c.12570A>G (p.Glu4190=) | |
| 1 | g.237784249A>T | CA345413575 | RYR2 | c.*3629A>T (n.*3629A>T) c.12525A>T (p.Glu4175Asp) c.12558A>T (p.Glu4186Asp) c.4714A>T c.12537A>T (p.Glu4179Asp) c.2590A>T c.12489A>T (p.Glu4163Asp) n.3732A>T c.12591A>T (p.Glu4197Asp) c.12588A>T (p.Glu4196Asp) c.12567A>T (p.Glu4189Asp) c.12561A>T (p.Glu4187Asp) c.12555A>T (p.Glu4185Asp) c.12531A>T (p.Glu4177Asp) c.12354A>T (p.Glu4118Asp) c.12498A>T (p.Glu4166Asp) c.12570A>T (p.Glu4190Asp) | |
| 1 | g.237784250G>A | CA345413576 | RYR2 | c.*3630G>A (n.*3630G>A) c.12526G>A (p.Gly4176Ser) c.12559G>A (p.Gly4187Ser) c.4715G>A c.12538G>A (p.Gly4180Ser) c.2591G>A c.12490G>A (p.Gly4164Ser) n.3733G>A c.12592G>A (p.Gly4198Ser) c.12589G>A (p.Gly4197Ser) c.12568G>A (p.Gly4190Ser) c.12562G>A (p.Gly4188Ser) c.12556G>A (p.Gly4186Ser) c.12532G>A (p.Gly4178Ser) c.12355G>A (p.Gly4119Ser) c.12499G>A (p.Gly4167Ser) c.12571G>A (p.Gly4191Ser) | |
| 1 | g.237784250G>C | CA085194 | RYR2 | c.*3630G>C (n.*3630G>C) c.12526G>C (p.Gly4176Arg) c.12559G>C (p.Gly4187Arg) c.4715G>C c.12538G>C (p.Gly4180Arg) c.2591G>C c.12490G>C (p.Gly4164Arg) n.3733G>C c.12592G>C (p.Gly4198Arg) c.12589G>C (p.Gly4197Arg) c.12568G>C (p.Gly4190Arg) c.12562G>C (p.Gly4188Arg) c.12556G>C (p.Gly4186Arg) c.12532G>C (p.Gly4178Arg) c.12355G>C (p.Gly4119Arg) c.12499G>C (p.Gly4167Arg) c.12571G>C (p.Gly4191Arg) | dbSNP ExAC |
| 1 | g.237784250G= | CA1148267802 | RYR2 | c.*3630G= (n.*3630G=) c.12526G= (p.Gly4176=) c.12559G= (p.Gly4187=) c.4715G= c.12538G= (p.Gly4180=) c.2591G= c.12490G= (p.Gly4164=) n.3733G= c.12592G= (p.Gly4198=) c.12589G= (p.Gly4197=) c.12568G= (p.Gly4190=) c.12562G= (p.Gly4188=) c.12556G= (p.Gly4186=) c.12532G= (p.Gly4178=) c.12355G= (p.Gly4119=) c.12499G= (p.Gly4167=) c.12571G= (p.Gly4191=) | |
| 1 | g.237784250G>T | CA345413577 | RYR2 | c.*3630G>T (n.*3630G>T) c.12526G>T (p.Gly4176Cys) c.12559G>T (p.Gly4187Cys) c.4715G>T c.12538G>T (p.Gly4180Cys) c.2591G>T c.12490G>T (p.Gly4164Cys) n.3733G>T c.12592G>T (p.Gly4198Cys) c.12589G>T (p.Gly4197Cys) c.12568G>T (p.Gly4190Cys) c.12562G>T (p.Gly4188Cys) c.12556G>T (p.Gly4186Cys) c.12532G>T (p.Gly4178Cys) c.12355G>T (p.Gly4119Cys) c.12499G>T (p.Gly4167Cys) c.12571G>T (p.Gly4191Cys) | COSMIC COSMIC |
| 1 | g.237784251G>A | CA345413578 | RYR2 | c.*3631G>A (n.*3631G>A) c.12527G>A (p.Gly4176Asp) c.12560G>A (p.Gly4187Asp) c.4716G>A c.12539G>A (p.Gly4180Asp) c.2592G>A c.12491G>A (p.Gly4164Asp) n.3734G>A c.12593G>A (p.Gly4198Asp) c.12590G>A (p.Gly4197Asp) c.12569G>A (p.Gly4190Asp) c.12563G>A (p.Gly4188Asp) c.12557G>A (p.Gly4186Asp) c.12533G>A (p.Gly4178Asp) c.12356G>A (p.Gly4119Asp) c.12500G>A (p.Gly4167Asp) c.12572G>A (p.Gly4191Asp) | |
| 1 | g.237784251G>C | CA345413579 | RYR2 | c.*3631G>C (n.*3631G>C) c.12527G>C (p.Gly4176Ala) c.12560G>C (p.Gly4187Ala) c.4716G>C c.12539G>C (p.Gly4180Ala) c.2592G>C c.12491G>C (p.Gly4164Ala) n.3734G>C c.12593G>C (p.Gly4198Ala) c.12590G>C (p.Gly4197Ala) c.12569G>C (p.Gly4190Ala) c.12563G>C (p.Gly4188Ala) c.12557G>C (p.Gly4186Ala) c.12533G>C (p.Gly4178Ala) c.12356G>C (p.Gly4119Ala) c.12500G>C (p.Gly4167Ala) c.12572G>C (p.Gly4191Ala) | |
| 1 | g.237784251G= | CA2487482444 | RYR2 | c.*3631G= (n.*3631G=) c.12527G= (p.Gly4176=) c.12560G= (p.Gly4187=) c.4716G= c.12539G= (p.Gly4180=) c.2592G= c.12491G= (p.Gly4164=) n.3734G= c.12593G= (p.Gly4198=) c.12590G= (p.Gly4197=) c.12569G= (p.Gly4190=) c.12563G= (p.Gly4188=) c.12557G= (p.Gly4186=) c.12533G= (p.Gly4178=) c.12356G= (p.Gly4119=) c.12500G= (p.Gly4167=) c.12572G= (p.Gly4191=) | |
| 1 | g.237784251G>T | CA345413580 | RYR2 | c.*3631G>T (n.*3631G>T) c.12527G>T (p.Gly4176Val) c.12560G>T (p.Gly4187Val) c.4716G>T c.12539G>T (p.Gly4180Val) c.2592G>T c.12491G>T (p.Gly4164Val) n.3734G>T c.12593G>T (p.Gly4198Val) c.12590G>T (p.Gly4197Val) c.12569G>T (p.Gly4190Val) c.12563G>T (p.Gly4188Val) c.12557G>T (p.Gly4186Val) c.12533G>T (p.Gly4178Val) c.12356G>T (p.Gly4119Val) c.12500G>T (p.Gly4167Val) c.12572G>T (p.Gly4191Val) | ClinVar dbSNP |
| 1 | g.237784252C>A | CA424032305 | RYR2 | c.*3632C>A (n.*3632C>A) c.12528C>A (p.Gly4176=) c.12561C>A (p.Gly4187=) c.4717C>A c.12540C>A (p.Gly4180=) c.2593C>A c.12492C>A (p.Gly4164=) n.3735C>A c.12594C>A (p.Gly4198=) c.12591C>A (p.Gly4197=) c.12570C>A (p.Gly4190=) c.12564C>A (p.Gly4188=) c.12558C>A (p.Gly4186=) c.12534C>A (p.Gly4178=) c.12357C>A (p.Gly4119=) c.12501C>A (p.Gly4167=) c.12573C>A (p.Gly4191=) | dbSNP |
| 1 | g.237784252C= | CA2487482445 | RYR2 | c.*3632C= (n.*3632C=) c.12528C= (p.Gly4176=) c.12561C= (p.Gly4187=) c.4717C= c.12540C= (p.Gly4180=) c.2593C= c.12492C= (p.Gly4164=) n.3735C= c.12594C= (p.Gly4198=) c.12591C= (p.Gly4197=) c.12570C= (p.Gly4190=) c.12564C= (p.Gly4188=) c.12558C= (p.Gly4186=) c.12534C= (p.Gly4178=) c.12357C= (p.Gly4119=) c.12501C= (p.Gly4167=) c.12573C= (p.Gly4191=) | |
| 1 | g.237784252C>G | CA066498 | RYR2 | c.*3632C>G (n.*3632C>G) c.12528C>G (p.Gly4176=) c.12561C>G (p.Gly4187=) c.4717C>G c.12540C>G (p.Gly4180=) c.2593C>G c.12492C>G (p.Gly4164=) n.3735C>G c.12594C>G (p.Gly4198=) c.12591C>G (p.Gly4197=) c.12570C>G (p.Gly4190=) c.12564C>G (p.Gly4188=) c.12558C>G (p.Gly4186=) c.12534C>G (p.Gly4178=) c.12357C>G (p.Gly4119=) c.12501C>G (p.Gly4167=) c.12573C>G (p.Gly4191=) | |
| 1 | g.237784252C>T | CA085195 | RYR2 | c.*3632C>T (n.*3632C>T) c.12528C>T (p.Gly4176=) c.12561C>T (p.Gly4187=) c.4717C>T c.12540C>T (p.Gly4180=) c.2593C>T c.12492C>T (p.Gly4164=) n.3735C>T c.12594C>T (p.Gly4198=) c.12591C>T (p.Gly4197=) c.12570C>T (p.Gly4190=) c.12564C>T (p.Gly4188=) c.12558C>T (p.Gly4186=) c.12534C>T (p.Gly4178=) c.12357C>T (p.Gly4119=) c.12501C>T (p.Gly4167=) c.12573C>T (p.Gly4191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237784253G>A | CA085196 | RYR2 | c.*3633G>A (n.*3633G>A) c.12529G>A (p.Gly4177Arg) c.12562G>A (p.Gly4188Arg) c.4718G>A c.12541G>A (p.Gly4181Arg) c.2594G>A c.12493G>A (p.Gly4165Arg) n.3736G>A c.12595G>A (p.Gly4199Arg) c.12592G>A (p.Gly4198Arg) c.12571G>A (p.Gly4191Arg) c.12565G>A (p.Gly4189Arg) c.12559G>A (p.Gly4187Arg) c.12535G>A (p.Gly4179Arg) c.12358G>A (p.Gly4120Arg) c.12502G>A (p.Gly4168Arg) c.12574G>A (p.Gly4192Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237784253G>C | CA345413581 | RYR2 | c.*3633G>C (n.*3633G>C) c.12529G>C (p.Gly4177Arg) c.12562G>C (p.Gly4188Arg) c.4718G>C c.12541G>C (p.Gly4181Arg) c.2594G>C c.12493G>C (p.Gly4165Arg) n.3736G>C c.12595G>C (p.Gly4199Arg) c.12592G>C (p.Gly4198Arg) c.12571G>C (p.Gly4191Arg) c.12565G>C (p.Gly4189Arg) c.12559G>C (p.Gly4187Arg) c.12535G>C (p.Gly4179Arg) c.12358G>C (p.Gly4120Arg) c.12502G>C (p.Gly4168Arg) c.12574G>C (p.Gly4192Arg) | |
| 1 | g.237784253G= | CA2487482446 | RYR2 | c.*3633G= (n.*3633G=) c.12529G= (p.Gly4177=) c.12562G= (p.Gly4188=) c.4718G= c.12541G= (p.Gly4181=) c.2594G= c.12493G= (p.Gly4165=) n.3736G= c.12595G= (p.Gly4199=) c.12592G= (p.Gly4198=) c.12571G= (p.Gly4191=) c.12565G= (p.Gly4189=) c.12559G= (p.Gly4187=) c.12535G= (p.Gly4179=) c.12358G= (p.Gly4120=) c.12502G= (p.Gly4168=) c.12574G= (p.Gly4192=) | |
| 1 | g.237784253G>T | CA345413582 | RYR2 | c.*3633G>T (n.*3633G>T) c.12529G>T (p.Gly4177Ter) c.12562G>T (p.Gly4188Ter) c.4718G>T c.12541G>T (p.Gly4181Ter) c.2594G>T c.12493G>T (p.Gly4165Ter) n.3736G>T c.12595G>T (p.Gly4199Ter) c.12592G>T (p.Gly4198Ter) c.12571G>T (p.Gly4191Ter) c.12565G>T (p.Gly4189Ter) c.12559G>T (p.Gly4187Ter) c.12535G>T (p.Gly4179Ter) c.12358G>T (p.Gly4120Ter) c.12502G>T (p.Gly4168Ter) c.12574G>T (p.Gly4192Ter) | |
| 1 | g.237784253_237784254insA | CA645515552 | RYR2 | c.*3633_*3634insA (n.*3633_*3634insA) c.12529_12530insA (p.Gly4177GlufsTer19) c.12562_12563insA (p.Gly4188GlufsTer19) c.4718_4719insA c.12541_12542insA (p.Gly4181GlufsTer19) c.2594_2595insA c.12493_12494insA (p.Gly4165GlufsTer19) n.3736_3737insA c.12595_12596insA (p.Gly4199GlufsTer19) c.12592_12593insA (p.Gly4198GlufsTer19) c.12571_12572insA (p.Gly4191GlufsTer19) c.12565_12566insA (p.Gly4189GlufsTer19) c.12559_12560insA (p.Gly4187GlufsTer19) c.12535_12536insA (p.Gly4179GlufsTer19) c.12358_12359insA (p.Gly4120GlufsTer19) c.12502_12503insA (p.Gly4168GlufsTer19) c.12574_12575insA (p.Gly4192GlufsTer19) | COSMIC COSMIC |
| 1 | g.237784254G>A | CA345413585 | RYR2 | c.*3634G>A (n.*3634G>A) c.12530G>A (p.Gly4177Glu) c.12563G>A (p.Gly4188Glu) c.4719G>A c.12542G>A (p.Gly4181Glu) c.2595G>A c.12494G>A (p.Gly4165Glu) n.3737G>A c.12596G>A (p.Gly4199Glu) c.12593G>A (p.Gly4198Glu) c.12572G>A (p.Gly4191Glu) c.12566G>A (p.Gly4189Glu) c.12560G>A (p.Gly4187Glu) c.12536G>A (p.Gly4179Glu) c.12359G>A (p.Gly4120Glu) c.12503G>A (p.Gly4168Glu) c.12575G>A (p.Gly4192Glu) | |
| 1 | g.237784254G>C | CA345413583 | RYR2 | c.*3634G>C (n.*3634G>C) c.12530G>C (p.Gly4177Ala) c.12563G>C (p.Gly4188Ala) c.4719G>C c.12542G>C (p.Gly4181Ala) c.2595G>C c.12494G>C (p.Gly4165Ala) n.3737G>C c.12596G>C (p.Gly4199Ala) c.12593G>C (p.Gly4198Ala) c.12572G>C (p.Gly4191Ala) c.12566G>C (p.Gly4189Ala) c.12560G>C (p.Gly4187Ala) c.12536G>C (p.Gly4179Ala) c.12359G>C (p.Gly4120Ala) c.12503G>C (p.Gly4168Ala) c.12575G>C (p.Gly4192Ala) | |
| 1 | g.237784254G>T | CA345413584 | RYR2 | c.*3634G>T (n.*3634G>T) c.12530G>T (p.Gly4177Val) c.12563G>T (p.Gly4188Val) c.4719G>T c.12542G>T (p.Gly4181Val) c.2595G>T c.12494G>T (p.Gly4165Val) n.3737G>T c.12596G>T (p.Gly4199Val) c.12593G>T (p.Gly4198Val) c.12572G>T (p.Gly4191Val) c.12566G>T (p.Gly4189Val) c.12560G>T (p.Gly4187Val) c.12536G>T (p.Gly4179Val) c.12359G>T (p.Gly4120Val) c.12503G>T (p.Gly4168Val) c.12575G>T (p.Gly4192Val) | |
| 1 | g.237784255A>C | CA424032309 | RYR2 | c.*3635A>C (n.*3635A>C) c.12531A>C (p.Gly4177=) c.12564A>C (p.Gly4188=) c.4720A>C c.12543A>C (p.Gly4181=) c.2596A>C c.12495A>C (p.Gly4165=) n.3738A>C c.12597A>C (p.Gly4199=) c.12594A>C (p.Gly4198=) c.12573A>C (p.Gly4191=) c.12567A>C (p.Gly4189=) c.12561A>C (p.Gly4187=) c.12537A>C (p.Gly4179=) c.12360A>C (p.Gly4120=) c.12504A>C (p.Gly4168=) c.12576A>C (p.Gly4192=) | |
| 1 | g.237784255A>G | CA424032308 | RYR2 | c.*3635A>G (n.*3635A>G) c.12531A>G (p.Gly4177=) c.12564A>G (p.Gly4188=) c.4720A>G c.12543A>G (p.Gly4181=) c.2596A>G c.12495A>G (p.Gly4165=) n.3738A>G c.12597A>G (p.Gly4199=) c.12594A>G (p.Gly4198=) c.12573A>G (p.Gly4191=) c.12567A>G (p.Gly4189=) c.12561A>G (p.Gly4187=) c.12537A>G (p.Gly4179=) c.12360A>G (p.Gly4120=) c.12504A>G (p.Gly4168=) c.12576A>G (p.Gly4192=) | |
| 1 | g.237784255A>T | CA424032307 | RYR2 | c.*3635A>T (n.*3635A>T) c.12531A>T (p.Gly4177=) c.12564A>T (p.Gly4188=) c.4720A>T c.12543A>T (p.Gly4181=) c.2596A>T c.12495A>T (p.Gly4165=) n.3738A>T c.12597A>T (p.Gly4199=) c.12594A>T (p.Gly4198=) c.12573A>T (p.Gly4191=) c.12567A>T (p.Gly4189=) c.12561A>T (p.Gly4187=) c.12537A>T (p.Gly4179=) c.12360A>T (p.Gly4120=) c.12504A>T (p.Gly4168=) c.12576A>T (p.Gly4192=) | |
| 1 | g.237784256G>A | CA345413586 | RYR2 | c.*3636G>A (n.*3636G>A) c.12532G>A (p.Glu4178Lys) c.12565G>A (p.Glu4189Lys) c.4721G>A c.12544G>A (p.Glu4182Lys) c.2597G>A c.12496G>A (p.Glu4166Lys) n.3739G>A c.12598G>A (p.Glu4200Lys) c.12595G>A (p.Glu4199Lys) c.12574G>A (p.Glu4192Lys) c.12568G>A (p.Glu4190Lys) c.12562G>A (p.Glu4188Lys) c.12538G>A (p.Glu4180Lys) c.12361G>A (p.Glu4121Lys) c.12505G>A (p.Glu4169Lys) c.12577G>A (p.Glu4193Lys) | |
| 1 | g.237784256G>C | CA007580 | RYR2 | c.*3636G>C (n.*3636G>C) c.12532G>C (p.Glu4178Gln) c.12565G>C (p.Glu4189Gln) c.4721G>C c.12544G>C (p.Glu4182Gln) c.2597G>C c.12496G>C (p.Glu4166Gln) n.3739G>C c.12598G>C (p.Glu4200Gln) c.12595G>C (p.Glu4199Gln) c.12574G>C (p.Glu4192Gln) c.12568G>C (p.Glu4190Gln) c.12562G>C (p.Glu4188Gln) c.12538G>C (p.Glu4180Gln) c.12361G>C (p.Glu4121Gln) c.12505G>C (p.Glu4169Gln) c.12577G>C (p.Glu4193Gln) | ClinVar dbSNP |
| 1 | g.237784256G= | CA1144229304 | RYR2 | c.*3636G= (n.*3636G=) c.12532G= (p.Glu4178=) c.12565G= (p.Glu4189=) c.4721G= c.12544G= (p.Glu4182=) c.2597G= c.12496G= (p.Glu4166=) n.3739G= c.12598G= (p.Glu4200=) c.12595G= (p.Glu4199=) c.12574G= (p.Glu4192=) c.12568G= (p.Glu4190=) c.12562G= (p.Glu4188=) c.12538G= (p.Glu4180=) c.12361G= (p.Glu4121=) c.12505G= (p.Glu4169=) c.12577G= (p.Glu4193=) | |
| 1 | g.237784256G>T | CA345413587 | RYR2 | c.*3636G>T (n.*3636G>T) c.12532G>T (p.Glu4178Ter) c.12565G>T (p.Glu4189Ter) c.4721G>T c.12544G>T (p.Glu4182Ter) c.2597G>T c.12496G>T (p.Glu4166Ter) n.3739G>T c.12598G>T (p.Glu4200Ter) c.12595G>T (p.Glu4199Ter) c.12574G>T (p.Glu4192Ter) c.12568G>T (p.Glu4190Ter) c.12562G>T (p.Glu4188Ter) c.12538G>T (p.Glu4180Ter) c.12361G>T (p.Glu4121Ter) c.12505G>T (p.Glu4169Ter) c.12577G>T (p.Glu4193Ter) | |
| 1 | g.237784257A= | CA2487482447 | RYR2 | c.*3637A= (n.*3637A=) c.12533A= (p.Glu4178=) c.12566A= (p.Glu4189=) c.4722A= c.12545A= (p.Glu4182=) c.2598A= c.12497A= (p.Glu4166=) n.3740A= c.12599A= (p.Glu4200=) c.12596A= (p.Glu4199=) c.12575A= (p.Glu4192=) c.12569A= (p.Glu4190=) c.12563A= (p.Glu4188=) c.12539A= (p.Glu4180=) c.12362A= (p.Glu4121=) c.12506A= (p.Glu4169=) c.12578A= (p.Glu4193=) | |
| 1 | g.237784257A>C | CA007588 | RYR2 | c.*3637A>C (n.*3637A>C) c.12533A>C (p.Glu4178Ala) c.12566A>C (p.Glu4189Ala) c.4722A>C c.12545A>C (p.Glu4182Ala) c.2598A>C c.12497A>C (p.Glu4166Ala) n.3740A>C c.12599A>C (p.Glu4200Ala) c.12596A>C (p.Glu4199Ala) c.12575A>C (p.Glu4192Ala) c.12569A>C (p.Glu4190Ala) c.12563A>C (p.Glu4188Ala) c.12539A>C (p.Glu4180Ala) c.12362A>C (p.Glu4121Ala) c.12506A>C (p.Glu4169Ala) c.12578A>C (p.Glu4193Ala) | ClinVar dbSNP |
| 1 | g.237784257A>G | CA345413588 | RYR2 | c.*3637A>G (n.*3637A>G) c.12533A>G (p.Glu4178Gly) c.12566A>G (p.Glu4189Gly) c.4722A>G c.12545A>G (p.Glu4182Gly) c.2598A>G c.12497A>G (p.Glu4166Gly) n.3740A>G c.12599A>G (p.Glu4200Gly) c.12596A>G (p.Glu4199Gly) c.12575A>G (p.Glu4192Gly) c.12569A>G (p.Glu4190Gly) c.12563A>G (p.Glu4188Gly) c.12539A>G (p.Glu4180Gly) c.12362A>G (p.Glu4121Gly) c.12506A>G (p.Glu4169Gly) c.12578A>G (p.Glu4193Gly) | |
| 1 | g.237784257A>T | CA345413589 | RYR2 | c.*3637A>T (n.*3637A>T) c.12533A>T (p.Glu4178Val) c.12566A>T (p.Glu4189Val) c.4722A>T c.12545A>T (p.Glu4182Val) c.2598A>T c.12497A>T (p.Glu4166Val) n.3740A>T c.12599A>T (p.Glu4200Val) c.12596A>T (p.Glu4199Val) c.12575A>T (p.Glu4192Val) c.12569A>T (p.Glu4190Val) c.12563A>T (p.Glu4188Val) c.12539A>T (p.Glu4180Val) c.12362A>T (p.Glu4121Val) c.12506A>T (p.Glu4169Val) c.12578A>T (p.Glu4193Val) | |
| 1 | g.237784258G>A | CA424032310 | RYR2 | c.*3638G>A (n.*3638G>A) c.12534G>A (p.Glu4178=) c.12567G>A (p.Glu4189=) c.4723G>A c.12546G>A (p.Glu4182=) c.2599G>A c.12498G>A (p.Glu4166=) n.3741G>A c.12600G>A (p.Glu4200=) c.12597G>A (p.Glu4199=) c.12576G>A (p.Glu4192=) c.12570G>A (p.Glu4190=) c.12564G>A (p.Glu4188=) c.12540G>A (p.Glu4180=) c.12363G>A (p.Glu4121=) c.12507G>A (p.Glu4169=) c.12579G>A (p.Glu4193=) | |
| 1 | g.237784258G>C | CA345413590 | RYR2 | c.*3638G>C (n.*3638G>C) c.12534G>C (p.Glu4178Asp) c.12567G>C (p.Glu4189Asp) c.4723G>C c.12546G>C (p.Glu4182Asp) c.2599G>C c.12498G>C (p.Glu4166Asp) n.3741G>C c.12600G>C (p.Glu4200Asp) c.12597G>C (p.Glu4199Asp) c.12576G>C (p.Glu4192Asp) c.12570G>C (p.Glu4190Asp) c.12564G>C (p.Glu4188Asp) c.12540G>C (p.Glu4180Asp) c.12363G>C (p.Glu4121Asp) c.12507G>C (p.Glu4169Asp) c.12579G>C (p.Glu4193Asp) | |
| 1 | g.237784258G>T | CA345413591 | RYR2 | c.*3638G>T (n.*3638G>T) c.12534G>T (p.Glu4178Asp) c.12567G>T (p.Glu4189Asp) c.4723G>T c.12546G>T (p.Glu4182Asp) c.2599G>T c.12498G>T (p.Glu4166Asp) n.3741G>T c.12600G>T (p.Glu4200Asp) c.12597G>T (p.Glu4199Asp) c.12576G>T (p.Glu4192Asp) c.12570G>T (p.Glu4190Asp) c.12564G>T (p.Glu4188Asp) c.12540G>T (p.Glu4180Asp) c.12363G>T (p.Glu4121Asp) c.12507G>T (p.Glu4169Asp) c.12579G>T (p.Glu4193Asp) | COSMIC COSMIC |
| 1 | g.237784259A>C | CA345413592 | RYR2 | c.*3639A>C (n.*3639A>C) c.12535A>C (p.Lys4179Gln) c.12568A>C (p.Lys4190Gln) c.4724A>C c.12547A>C (p.Lys4183Gln) c.2600A>C c.12499A>C (p.Lys4167Gln) n.3742A>C c.12601A>C (p.Lys4201Gln) c.12598A>C (p.Lys4200Gln) c.12577A>C (p.Lys4193Gln) c.12571A>C (p.Lys4191Gln) c.12565A>C (p.Lys4189Gln) c.12541A>C (p.Lys4181Gln) c.12364A>C (p.Lys4122Gln) c.12508A>C (p.Lys4170Gln) c.12580A>C (p.Lys4194Gln) | |
| 1 | g.237784259A>G | CA345413593 | RYR2 | c.*3639A>G (n.*3639A>G) c.12535A>G (p.Lys4179Glu) c.12568A>G (p.Lys4190Glu) c.4724A>G c.12547A>G (p.Lys4183Glu) c.2600A>G c.12499A>G (p.Lys4167Glu) n.3742A>G c.12601A>G (p.Lys4201Glu) c.12598A>G (p.Lys4200Glu) c.12577A>G (p.Lys4193Glu) c.12571A>G (p.Lys4191Glu) c.12565A>G (p.Lys4189Glu) c.12541A>G (p.Lys4181Glu) c.12364A>G (p.Lys4122Glu) c.12508A>G (p.Lys4170Glu) c.12580A>G (p.Lys4194Glu) | |
| 1 | g.237784259A>T | CA345413594 | RYR2 | c.*3639A>T (n.*3639A>T) c.12535A>T (p.Lys4179Ter) c.12568A>T (p.Lys4190Ter) c.4724A>T c.12547A>T (p.Lys4183Ter) c.2600A>T c.12499A>T (p.Lys4167Ter) n.3742A>T c.12601A>T (p.Lys4201Ter) c.12598A>T (p.Lys4200Ter) c.12577A>T (p.Lys4193Ter) c.12571A>T (p.Lys4191Ter) c.12565A>T (p.Lys4189Ter) c.12541A>T (p.Lys4181Ter) c.12364A>T (p.Lys4122Ter) c.12508A>T (p.Lys4170Ter) c.12580A>T (p.Lys4194Ter) | |
| 1 | g.237784261dup | CA2586964600 | RYR2 | c.*3641dup (n.*3641dup) c.12537dup (p.Glu4180ArgfsTer16) c.12570dup (p.Glu4191ArgfsTer16) c.4726dup c.12549dup (p.Glu4184ArgfsTer16) c.2602dup c.12501dup (p.Glu4168ArgfsTer16) n.3744dup c.12603dup (p.Glu4202ArgfsTer16) c.12600dup (p.Glu4201ArgfsTer16) c.12579dup (p.Glu4194ArgfsTer16) c.12573dup (p.Glu4192ArgfsTer16) c.12567dup (p.Glu4190ArgfsTer16) c.12543dup (p.Glu4182ArgfsTer16) c.12366dup (p.Glu4123ArgfsTer16) c.12510dup (p.Glu4171ArgfsTer16) c.12582dup (p.Glu4195ArgfsTer16) | |
| 1 | g.237784260_237784261del | CA2574453497 | RYR2 | c.*3640_*3641del (n.*3640_*3641del) c.12536_12537del (p.Lys4179ArgfsTer16) c.12569_12570del (p.Lys4190ArgfsTer16) c.4725_4726del c.12548_12549del (p.Lys4183ArgfsTer16) c.2601_2602del c.12500_12501del (p.Lys4167ArgfsTer16) n.3743_3744del c.12602_12603del (p.Lys4201ArgfsTer16) c.12599_12600del (p.Lys4200ArgfsTer16) c.12578_12579del (p.Lys4193ArgfsTer16) c.12572_12573del (p.Lys4191ArgfsTer16) c.12566_12567del (p.Lys4189ArgfsTer16) c.12542_12543del (p.Lys4181ArgfsTer16) c.12365_12366del (p.Lys4122ArgfsTer16) c.12509_12510del (p.Lys4170ArgfsTer16) c.12581_12582del (p.Lys4194ArgfsTer16) | |
| 1 | g.237784260A= | CA2487482448 | RYR2 | c.*3640A= (n.*3640A=) c.12536A= (p.Lys4179=) c.12569A= (p.Lys4190=) c.4725A= c.12548A= (p.Lys4183=) c.2601A= c.12500A= (p.Lys4167=) n.3743A= c.12602A= (p.Lys4201=) c.12599A= (p.Lys4200=) c.12578A= (p.Lys4193=) c.12572A= (p.Lys4191=) c.12566A= (p.Lys4189=) c.12542A= (p.Lys4181=) c.12365A= (p.Lys4122=) c.12509A= (p.Lys4170=) c.12581A= (p.Lys4194=) | |
| 1 | g.237784260A>C | CA345413597 | RYR2 | c.*3640A>C (n.*3640A>C) c.12536A>C (p.Lys4179Thr) c.12569A>C (p.Lys4190Thr) c.4725A>C c.12548A>C (p.Lys4183Thr) c.2601A>C c.12500A>C (p.Lys4167Thr) n.3743A>C c.12602A>C (p.Lys4201Thr) c.12599A>C (p.Lys4200Thr) c.12578A>C (p.Lys4193Thr) c.12572A>C (p.Lys4191Thr) c.12566A>C (p.Lys4189Thr) c.12542A>C (p.Lys4181Thr) c.12365A>C (p.Lys4122Thr) c.12509A>C (p.Lys4170Thr) c.12581A>C (p.Lys4194Thr) | |
| 1 | g.237784260A>G | CA345413596 | RYR2 | c.*3640A>G (n.*3640A>G) c.12536A>G (p.Lys4179Arg) c.12569A>G (p.Lys4190Arg) c.4725A>G c.12548A>G (p.Lys4183Arg) c.2601A>G c.12500A>G (p.Lys4167Arg) n.3743A>G c.12602A>G (p.Lys4201Arg) c.12599A>G (p.Lys4200Arg) c.12578A>G (p.Lys4193Arg) c.12572A>G (p.Lys4191Arg) c.12566A>G (p.Lys4189Arg) c.12542A>G (p.Lys4181Arg) c.12365A>G (p.Lys4122Arg) c.12509A>G (p.Lys4170Arg) c.12581A>G (p.Lys4194Arg) | |
| 1 | g.237784260A>T | CA345413595 | RYR2 | c.*3640A>T (n.*3640A>T) c.12536A>T (p.Lys4179Ile) c.12569A>T (p.Lys4190Ile) c.4725A>T c.12548A>T (p.Lys4183Ile) c.2601A>T c.12500A>T (p.Lys4167Ile) n.3743A>T c.12602A>T (p.Lys4201Ile) c.12599A>T (p.Lys4200Ile) c.12578A>T (p.Lys4193Ile) c.12572A>T (p.Lys4191Ile) c.12566A>T (p.Lys4189Ile) c.12542A>T (p.Lys4181Ile) c.12365A>T (p.Lys4122Ile) c.12509A>T (p.Lys4170Ile) c.12581A>T (p.Lys4194Ile) | ClinVar dbSNP |
| 1 | g.237784261A= | CA2487482449 | RYR2 | c.*3641A= (n.*3641A=) c.12537A= (p.Lys4179=) c.12570A= (p.Lys4190=) c.4726A= c.12549A= (p.Lys4183=) c.2602A= c.12501A= (p.Lys4167=) n.3744A= c.12603A= (p.Lys4201=) c.12600A= (p.Lys4200=) c.12579A= (p.Lys4193=) c.12573A= (p.Lys4191=) c.12567A= (p.Lys4189=) c.12543A= (p.Lys4181=) c.12366A= (p.Lys4122=) c.12510A= (p.Lys4170=) c.12582A= (p.Lys4194=) | |
| 1 | g.237784261A>C | CA345413598 | RYR2 | c.*3641A>C (n.*3641A>C) c.12537A>C (p.Lys4179Asn) c.12570A>C (p.Lys4190Asn) c.4726A>C c.12549A>C (p.Lys4183Asn) c.2602A>C c.12501A>C (p.Lys4167Asn) n.3744A>C c.12603A>C (p.Lys4201Asn) c.12600A>C (p.Lys4200Asn) c.12579A>C (p.Lys4193Asn) c.12573A>C (p.Lys4191Asn) c.12567A>C (p.Lys4189Asn) c.12543A>C (p.Lys4181Asn) c.12366A>C (p.Lys4122Asn) c.12510A>C (p.Lys4170Asn) c.12582A>C (p.Lys4194Asn) | ClinVar dbSNP |
| 1 | g.237784261A>G | CA085197 | RYR2 | c.*3641A>G (n.*3641A>G) c.12537A>G (p.Lys4179=) c.12570A>G (p.Lys4190=) c.4726A>G c.12549A>G (p.Lys4183=) c.2602A>G c.12501A>G (p.Lys4167=) n.3744A>G c.12603A>G (p.Lys4201=) c.12600A>G (p.Lys4200=) c.12579A>G (p.Lys4193=) c.12573A>G (p.Lys4191=) c.12567A>G (p.Lys4189=) c.12543A>G (p.Lys4181=) c.12366A>G (p.Lys4122=) c.12510A>G (p.Lys4170=) c.12582A>G (p.Lys4194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784261A>T | CA345413599 | RYR2 | c.*3641A>T (n.*3641A>T) c.12537A>T (p.Lys4179Asn) c.12570A>T (p.Lys4190Asn) c.4726A>T c.12549A>T (p.Lys4183Asn) c.2602A>T c.12501A>T (p.Lys4167Asn) n.3744A>T c.12603A>T (p.Lys4201Asn) c.12600A>T (p.Lys4200Asn) c.12579A>T (p.Lys4193Asn) c.12573A>T (p.Lys4191Asn) c.12567A>T (p.Lys4189Asn) c.12543A>T (p.Lys4181Asn) c.12366A>T (p.Lys4122Asn) c.12510A>T (p.Lys4170Asn) c.12582A>T (p.Lys4194Asn) | |
| 1 | g.237784261_237784264delinsAGAG | CA2487482450 | RYR2 | c.*3641_*3644delinsAGAG (n.*3641_*3644delinsAGAG) c.12537_12540delinsAGAG (p.Lys4179=) c.12570_12573delinsAGAG (p.Lys4190=) c.4726_4729delinsAGAG c.12549_12552delinsAGAG (p.Lys4183=) c.2602_2605delinsAGAG c.12501_12504delinsAGAG (p.Lys4167=) n.3744_3747delinsAGAG c.12603_12606delinsAGAG (p.Lys4201=) c.12600_12603delinsAGAG (p.Lys4200=) c.12579_12582delinsAGAG (p.Lys4193=) c.12573_12576delinsAGAG (p.Lys4191=) c.12567_12570delinsAGAG (p.Lys4189=) c.12543_12546delinsAGAG (p.Lys4181=) c.12366_12369delinsAGAG (p.Lys4122=) c.12510_12513delinsAGAG (p.Lys4170=) c.12582_12585delinsAGAG (p.Lys4194=) | |
| 1 | g.237784262G>A | CA345413600 | RYR2 | c.*3642G>A (n.*3642G>A) c.12538G>A (p.Glu4180Lys) c.12571G>A (p.Glu4191Lys) c.4727G>A c.12550G>A (p.Glu4184Lys) c.2603G>A c.12502G>A (p.Glu4168Lys) n.3745G>A c.12604G>A (p.Glu4202Lys) c.12601G>A (p.Glu4201Lys) c.12580G>A (p.Glu4194Lys) c.12574G>A (p.Glu4192Lys) c.12568G>A (p.Glu4190Lys) c.12544G>A (p.Glu4182Lys) c.12367G>A (p.Glu4123Lys) c.12511G>A (p.Glu4171Lys) c.12583G>A (p.Glu4195Lys) | COSMIC COSMIC |
| 1 | g.237784262G>C | CA345413601 | RYR2 | c.*3642G>C (n.*3642G>C) c.12538G>C (p.Glu4180Gln) c.12571G>C (p.Glu4191Gln) c.4727G>C c.12550G>C (p.Glu4184Gln) c.2603G>C c.12502G>C (p.Glu4168Gln) n.3745G>C c.12604G>C (p.Glu4202Gln) c.12601G>C (p.Glu4201Gln) c.12580G>C (p.Glu4194Gln) c.12574G>C (p.Glu4192Gln) c.12568G>C (p.Glu4190Gln) c.12544G>C (p.Glu4182Gln) c.12367G>C (p.Glu4123Gln) c.12511G>C (p.Glu4171Gln) c.12583G>C (p.Glu4195Gln) | |
| 1 | g.237784262G>T | CA345413602 | RYR2 | c.*3642G>T (n.*3642G>T) c.12538G>T (p.Glu4180Ter) c.12571G>T (p.Glu4191Ter) c.4727G>T c.12550G>T (p.Glu4184Ter) c.2603G>T c.12502G>T (p.Glu4168Ter) n.3745G>T c.12604G>T (p.Glu4202Ter) c.12601G>T (p.Glu4201Ter) c.12580G>T (p.Glu4194Ter) c.12574G>T (p.Glu4192Ter) c.12568G>T (p.Glu4190Ter) c.12544G>T (p.Glu4182Ter) c.12367G>T (p.Glu4123Ter) c.12511G>T (p.Glu4171Ter) c.12583G>T (p.Glu4195Ter) | |
| 1 | g.237784262_237784263delinsGA | CA2487482451 | RYR2 | c.*3642_*3643delinsGA (n.*3642_*3643delinsGA) c.12538_12539delinsGA (p.Glu4180=) c.12571_12572delinsGA (p.Glu4191=) c.4727_4728delinsGA c.12550_12551delinsGA (p.Glu4184=) c.2603_2604delinsGA c.12502_12503delinsGA (p.Glu4168=) n.3745_3746delinsGA c.12604_12605delinsGA (p.Glu4202=) c.12601_12602delinsGA (p.Glu4201=) c.12580_12581delinsGA (p.Glu4194=) c.12574_12575delinsGA (p.Glu4192=) c.12568_12569delinsGA (p.Glu4190=) c.12544_12545delinsGA (p.Glu4182=) c.12367_12368delinsGA (p.Glu4123=) c.12511_12512delinsGA (p.Glu4171=) c.12583_12584delinsGA (p.Glu4195=) | |
| 1 | g.237784262_237784264del | CA658822785 | RYR2 | c.*3642_*3644del (n.*3642_*3644del) c.12538_12540del (p.Glu4180del) c.12571_12573del (p.Glu4191del) c.4727_4729del c.12550_12552del (p.Glu4184del) c.2603_2605del c.12502_12504del (p.Glu4168del) n.3745_3747del c.12604_12606del (p.Glu4202del) c.12601_12603del (p.Glu4201del) c.12580_12582del (p.Glu4194del) c.12574_12576del (p.Glu4192del) c.12568_12570del (p.Glu4190del) c.12544_12546del (p.Glu4182del) c.12367_12369del (p.Glu4123del) c.12511_12513del (p.Glu4171del) c.12583_12585del (p.Glu4195del) | ClinVar dbSNP |
| 1 | g.237784263del | CA2487482453 | RYR2 | c.*3643del (n.*3643del) c.12539del (p.Glu4180GlyfsTer7) c.12572del (p.Glu4191GlyfsTer7) c.4728del c.12551del (p.Glu4184GlyfsTer7) c.2604del c.12503del (p.Glu4168GlyfsTer7) n.3746del c.12605del (p.Glu4202GlyfsTer7) c.12602del (p.Glu4201GlyfsTer7) c.12581del (p.Glu4194GlyfsTer7) c.12575del (p.Glu4192GlyfsTer7) c.12569del (p.Glu4190GlyfsTer7) c.12545del (p.Glu4182GlyfsTer7) c.12368del (p.Glu4123GlyfsTer7) c.12512del (p.Glu4171GlyfsTer7) c.12584del (p.Glu4195GlyfsTer7) | dbSNP |
| 1 | g.237784263A= | CA2487482452 | RYR2 | c.*3643A= (n.*3643A=) c.12539A= (p.Glu4180=) c.12572A= (p.Glu4191=) c.4728A= c.12551A= (p.Glu4184=) c.2604A= c.12503A= (p.Glu4168=) n.3746A= c.12605A= (p.Glu4202=) c.12602A= (p.Glu4201=) c.12581A= (p.Glu4194=) c.12575A= (p.Glu4192=) c.12569A= (p.Glu4190=) c.12545A= (p.Glu4182=) c.12368A= (p.Glu4123=) c.12512A= (p.Glu4171=) c.12584A= (p.Glu4195=) | |
| 1 | g.237784263A>C | CA345413603 | RYR2 | c.*3643A>C (n.*3643A>C) c.12539A>C (p.Glu4180Ala) c.12572A>C (p.Glu4191Ala) c.4728A>C c.12551A>C (p.Glu4184Ala) c.2604A>C c.12503A>C (p.Glu4168Ala) n.3746A>C c.12605A>C (p.Glu4202Ala) c.12602A>C (p.Glu4201Ala) c.12581A>C (p.Glu4194Ala) c.12575A>C (p.Glu4192Ala) c.12569A>C (p.Glu4190Ala) c.12545A>C (p.Glu4182Ala) c.12368A>C (p.Glu4123Ala) c.12512A>C (p.Glu4171Ala) c.12584A>C (p.Glu4195Ala) | |
| 1 | g.237784263A>G | CA007596 | RYR2 | c.*3643A>G (n.*3643A>G) c.12539A>G (p.Glu4180Gly) c.12572A>G (p.Glu4191Gly) c.4728A>G c.12551A>G (p.Glu4184Gly) c.2604A>G c.12503A>G (p.Glu4168Gly) n.3746A>G c.12605A>G (p.Glu4202Gly) c.12602A>G (p.Glu4201Gly) c.12581A>G (p.Glu4194Gly) c.12575A>G (p.Glu4192Gly) c.12569A>G (p.Glu4190Gly) c.12545A>G (p.Glu4182Gly) c.12368A>G (p.Glu4123Gly) c.12512A>G (p.Glu4171Gly) c.12584A>G (p.Glu4195Gly) | ClinVar dbSNP |
| 1 | g.237784263A>T | CA345413604 | RYR2 | c.*3643A>T (n.*3643A>T) c.12539A>T (p.Glu4180Val) c.12572A>T (p.Glu4191Val) c.4728A>T c.12551A>T (p.Glu4184Val) c.2604A>T c.12503A>T (p.Glu4168Val) n.3746A>T c.12605A>T (p.Glu4202Val) c.12602A>T (p.Glu4201Val) c.12581A>T (p.Glu4194Val) c.12575A>T (p.Glu4192Val) c.12569A>T (p.Glu4190Val) c.12545A>T (p.Glu4182Val) c.12368A>T (p.Glu4123Val) c.12512A>T (p.Glu4171Val) c.12584A>T (p.Glu4195Val) | |
| 1 | g.237784264G>A | CA424032312 | RYR2 | c.*3644G>A (n.*3644G>A) c.12540G>A (p.Glu4180=) c.12573G>A (p.Glu4191=) c.4729G>A c.12552G>A (p.Glu4184=) c.2605G>A c.12504G>A (p.Glu4168=) n.3747G>A c.12606G>A (p.Glu4202=) c.12603G>A (p.Glu4201=) c.12582G>A (p.Glu4194=) c.12576G>A (p.Glu4192=) c.12570G>A (p.Glu4190=) c.12546G>A (p.Glu4182=) c.12369G>A (p.Glu4123=) c.12513G>A (p.Glu4171=) c.12585G>A (p.Glu4195=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237784264G>C | CA345413605 | RYR2 | c.*3644G>C (n.*3644G>C) c.12540G>C (p.Glu4180Asp) c.12573G>C (p.Glu4191Asp) c.4729G>C c.12552G>C (p.Glu4184Asp) c.2605G>C c.12504G>C (p.Glu4168Asp) n.3747G>C c.12606G>C (p.Glu4202Asp) c.12603G>C (p.Glu4201Asp) c.12582G>C (p.Glu4194Asp) c.12576G>C (p.Glu4192Asp) c.12570G>C (p.Glu4190Asp) c.12546G>C (p.Glu4182Asp) c.12369G>C (p.Glu4123Asp) c.12513G>C (p.Glu4171Asp) c.12585G>C (p.Glu4195Asp) | |
| 1 | g.237784264G= | CA2487482454 | RYR2 | c.*3644G= (n.*3644G=) c.12540G= (p.Glu4180=) c.12573G= (p.Glu4191=) c.4729G= c.12552G= (p.Glu4184=) c.2605G= c.12504G= (p.Glu4168=) n.3747G= c.12606G= (p.Glu4202=) c.12603G= (p.Glu4201=) c.12582G= (p.Glu4194=) c.12576G= (p.Glu4192=) c.12570G= (p.Glu4190=) c.12546G= (p.Glu4182=) c.12369G= (p.Glu4123=) c.12513G= (p.Glu4171=) c.12585G= (p.Glu4195=) | |
| 1 | g.237784264G>T | CA345413606 | RYR2 | c.*3644G>T (n.*3644G>T) c.12540G>T (p.Glu4180Asp) c.12573G>T (p.Glu4191Asp) c.4729G>T c.12552G>T (p.Glu4184Asp) c.2605G>T c.12504G>T (p.Glu4168Asp) n.3747G>T c.12606G>T (p.Glu4202Asp) c.12603G>T (p.Glu4201Asp) c.12582G>T (p.Glu4194Asp) c.12576G>T (p.Glu4192Asp) c.12570G>T (p.Glu4190Asp) c.12546G>T (p.Glu4182Asp) c.12369G>T (p.Glu4123Asp) c.12513G>T (p.Glu4171Asp) c.12585G>T (p.Glu4195Asp) | |
| 1 | g.237784264_237784266delinsGAA | CA2487482455 | RYR2 | c.*3644_*3646delinsGAA (n.*3644_*3646delinsGAA) c.12540_12542delinsGAA (p.Glu4180=) c.12573_12575delinsGAA (p.Glu4191=) c.4729_4731delinsGAA c.12552_12554delinsGAA (p.Glu4184=) c.2605_2607delinsGAA c.12504_12506delinsGAA (p.Glu4168=) n.3747_3749delinsGAA c.12606_12608delinsGAA (p.Glu4202=) c.12603_12605delinsGAA (p.Glu4201=) c.12582_12584delinsGAA (p.Glu4194=) c.12576_12578delinsGAA (p.Glu4192=) c.12570_12572delinsGAA (p.Glu4190=) c.12546_12548delinsGAA (p.Glu4182=) c.12369_12371delinsGAA (p.Glu4123=) c.12513_12515delinsGAA (p.Glu4171=) c.12585_12587delinsGAA (p.Glu4195=) | |
| 1 | g.237784265A= | CA2487482457 | RYR2 | c.*3645A= (n.*3645A=) c.12541A= (p.Lys4181=) c.12574A= (p.Lys4192=) c.4730A= c.12553A= (p.Lys4185=) c.2606A= c.12505A= (p.Lys4169=) n.3748A= c.12607A= (p.Lys4203=) c.12604A= (p.Lys4202=) c.12583A= (p.Lys4195=) c.12577A= (p.Lys4193=) c.12571A= (p.Lys4191=) c.12547A= (p.Lys4183=) c.12370A= (p.Lys4124=) c.12514A= (p.Lys4172=) c.12586A= (p.Lys4196=) | |
| 1 | g.237784265A>C | CA345413607 | RYR2 | c.*3645A>C (n.*3645A>C) c.12541A>C (p.Lys4181Gln) c.12574A>C (p.Lys4192Gln) c.4730A>C c.12553A>C (p.Lys4185Gln) c.2606A>C c.12505A>C (p.Lys4169Gln) n.3748A>C c.12607A>C (p.Lys4203Gln) c.12604A>C (p.Lys4202Gln) c.12583A>C (p.Lys4195Gln) c.12577A>C (p.Lys4193Gln) c.12571A>C (p.Lys4191Gln) c.12547A>C (p.Lys4183Gln) c.12370A>C (p.Lys4124Gln) c.12514A>C (p.Lys4172Gln) c.12586A>C (p.Lys4196Gln) | |
| 1 | g.237784265A>G | CA345413608 | RYR2 | c.*3645A>G (n.*3645A>G) c.12541A>G (p.Lys4181Glu) c.12574A>G (p.Lys4192Glu) c.4730A>G c.12553A>G (p.Lys4185Glu) c.2606A>G c.12505A>G (p.Lys4169Glu) n.3748A>G c.12607A>G (p.Lys4203Glu) c.12604A>G (p.Lys4202Glu) c.12583A>G (p.Lys4195Glu) c.12577A>G (p.Lys4193Glu) c.12571A>G (p.Lys4191Glu) c.12547A>G (p.Lys4183Glu) c.12370A>G (p.Lys4124Glu) c.12514A>G (p.Lys4172Glu) c.12586A>G (p.Lys4196Glu) | |
| 1 | g.237784265A>T | CA345413609 | RYR2 | c.*3645A>T (n.*3645A>T) c.12541A>T (p.Lys4181Ter) c.12574A>T (p.Lys4192Ter) c.4730A>T c.12553A>T (p.Lys4185Ter) c.2606A>T c.12505A>T (p.Lys4169Ter) n.3748A>T c.12607A>T (p.Lys4203Ter) c.12604A>T (p.Lys4202Ter) c.12583A>T (p.Lys4195Ter) c.12577A>T (p.Lys4193Ter) c.12571A>T (p.Lys4191Ter) c.12547A>T (p.Lys4183Ter) c.12370A>T (p.Lys4124Ter) c.12514A>T (p.Lys4172Ter) c.12586A>T (p.Lys4196Ter) | |
| 1 | g.237784265_237784266del | CA2487482456 | RYR2 | c.*3645_*3646del (n.*3645_*3646del) c.12541_12542del (p.Lys4181AspfsTer14) c.12574_12575del (p.Lys4192AspfsTer14) c.4730_4731del c.12553_12554del (p.Lys4185AspfsTer14) c.2606_2607del c.12505_12506del (p.Lys4169AspfsTer14) n.3748_3749del c.12607_12608del (p.Lys4203AspfsTer14) c.12604_12605del (p.Lys4202AspfsTer14) c.12583_12584del (p.Lys4195AspfsTer14) c.12577_12578del (p.Lys4193AspfsTer14) c.12571_12572del (p.Lys4191AspfsTer14) c.12547_12548del (p.Lys4183AspfsTer14) c.12370_12371del (p.Lys4124AspfsTer14) c.12514_12515del (p.Lys4172AspfsTer14) c.12586_12587del (p.Lys4196AspfsTer14) | dbSNP |
| 1 | g.237784266A>C | CA345413612 | RYR2 | c.*3646A>C (n.*3646A>C) c.12542A>C (p.Lys4181Thr) c.12575A>C (p.Lys4192Thr) c.4731A>C c.12554A>C (p.Lys4185Thr) c.2607A>C c.12506A>C (p.Lys4169Thr) n.3749A>C c.12608A>C (p.Lys4203Thr) c.12605A>C (p.Lys4202Thr) c.12584A>C (p.Lys4195Thr) c.12578A>C (p.Lys4193Thr) c.12572A>C (p.Lys4191Thr) c.12548A>C (p.Lys4183Thr) c.12371A>C (p.Lys4124Thr) c.12515A>C (p.Lys4172Thr) c.12587A>C (p.Lys4196Thr) | |
| 1 | g.237784266A>G | CA345413611 | RYR2 | c.*3646A>G (n.*3646A>G) c.12542A>G (p.Lys4181Arg) c.12575A>G (p.Lys4192Arg) c.4731A>G c.12554A>G (p.Lys4185Arg) c.2607A>G c.12506A>G (p.Lys4169Arg) n.3749A>G c.12608A>G (p.Lys4203Arg) c.12605A>G (p.Lys4202Arg) c.12584A>G (p.Lys4195Arg) c.12578A>G (p.Lys4193Arg) c.12572A>G (p.Lys4191Arg) c.12548A>G (p.Lys4183Arg) c.12371A>G (p.Lys4124Arg) c.12515A>G (p.Lys4172Arg) c.12587A>G (p.Lys4196Arg) | |
| 1 | g.237784266A>T | CA345413610 | RYR2 | c.*3646A>T (n.*3646A>T) c.12542A>T (p.Lys4181Met) c.12575A>T (p.Lys4192Met) c.4731A>T c.12554A>T (p.Lys4185Met) c.2607A>T c.12506A>T (p.Lys4169Met) n.3749A>T c.12608A>T (p.Lys4203Met) c.12605A>T (p.Lys4202Met) c.12584A>T (p.Lys4195Met) c.12578A>T (p.Lys4193Met) c.12572A>T (p.Lys4191Met) c.12548A>T (p.Lys4183Met) c.12371A>T (p.Lys4124Met) c.12515A>T (p.Lys4172Met) c.12587A>T (p.Lys4196Met) | |
| 1 | g.237784267_237784268dup | CA1013748158 | RYR2 | c.*3647_*3648dup (n.*3647_*3648dup) c.12543_12544dup (p.Met4182ArgfsTer6) c.12576_12577dup (p.Met4193ArgfsTer6) c.4732_4733dup c.12555_12556dup (p.Met4186ArgfsTer6) c.2608_2609dup c.12507_12508dup (p.Met4170ArgfsTer6) n.3750_3751dup c.12609_12610dup (p.Met4204ArgfsTer6) c.12606_12607dup (p.Met4203ArgfsTer6) c.12585_12586dup (p.Met4196ArgfsTer6) c.12579_12580dup (p.Met4194ArgfsTer6) c.12573_12574dup (p.Met4192ArgfsTer6) c.12549_12550dup (p.Met4184ArgfsTer6) c.12372_12373dup (p.Met4125ArgfsTer6) c.12516_12517dup (p.Met4173ArgfsTer6) c.12588_12589dup (p.Met4197ArgfsTer6) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237784267G>A | CA085198 | RYR2 | c.*3647G>A (n.*3647G>A) c.12543G>A (p.Lys4181=) c.12576G>A (p.Lys4192=) c.4732G>A c.12555G>A (p.Lys4185=) c.2608G>A c.12507G>A (p.Lys4169=) n.3750G>A c.12609G>A (p.Lys4203=) c.12606G>A (p.Lys4202=) c.12585G>A (p.Lys4195=) c.12579G>A (p.Lys4193=) c.12573G>A (p.Lys4191=) c.12549G>A (p.Lys4183=) c.12372G>A (p.Lys4124=) c.12516G>A (p.Lys4172=) c.12588G>A (p.Lys4196=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.237784267G>C | CA345413613 | RYR2 | c.*3647G>C (n.*3647G>C) c.12543G>C (p.Lys4181Asn) c.12576G>C (p.Lys4192Asn) c.4732G>C c.12555G>C (p.Lys4185Asn) c.2608G>C c.12507G>C (p.Lys4169Asn) n.3750G>C c.12609G>C (p.Lys4203Asn) c.12606G>C (p.Lys4202Asn) c.12585G>C (p.Lys4195Asn) c.12579G>C (p.Lys4193Asn) c.12573G>C (p.Lys4191Asn) c.12549G>C (p.Lys4183Asn) c.12372G>C (p.Lys4124Asn) c.12516G>C (p.Lys4172Asn) c.12588G>C (p.Lys4196Asn) | |
| 1 | g.237784267G= | CA2487482458 | RYR2 | c.*3647G= (n.*3647G=) c.12543G= (p.Lys4181=) c.12576G= (p.Lys4192=) c.4732G= c.12555G= (p.Lys4185=) c.2608G= c.12507G= (p.Lys4169=) n.3750G= c.12609G= (p.Lys4203=) c.12606G= (p.Lys4202=) c.12585G= (p.Lys4195=) c.12579G= (p.Lys4193=) c.12573G= (p.Lys4191=) c.12549G= (p.Lys4183=) c.12372G= (p.Lys4124=) c.12516G= (p.Lys4172=) c.12588G= (p.Lys4196=) | |
| 1 | g.237784267G>T | CA345413614 | RYR2 | c.*3647G>T (n.*3647G>T) c.12543G>T (p.Lys4181Asn) c.12576G>T (p.Lys4192Asn) c.4732G>T c.12555G>T (p.Lys4185Asn) c.2608G>T c.12507G>T (p.Lys4169Asn) n.3750G>T c.12609G>T (p.Lys4203Asn) c.12606G>T (p.Lys4202Asn) c.12585G>T (p.Lys4195Asn) c.12579G>T (p.Lys4193Asn) c.12573G>T (p.Lys4191Asn) c.12549G>T (p.Lys4183Asn) c.12372G>T (p.Lys4124Asn) c.12516G>T (p.Lys4172Asn) c.12588G>T (p.Lys4196Asn) | COSMIC COSMIC |
| 1 | g.237784268A= | CA2487482459 | RYR2 | c.*3648A= (n.*3648A=) c.12544A= (p.Met4182=) c.12577A= (p.Met4193=) c.4733A= c.12556A= (p.Met4186=) c.2609A= c.12508A= (p.Met4170=) n.3751A= c.12610A= (p.Met4204=) c.12607A= (p.Met4203=) c.12586A= (p.Met4196=) c.12580A= (p.Met4194=) c.12574A= (p.Met4192=) c.12550A= (p.Met4184=) c.12373A= (p.Met4125=) c.12517A= (p.Met4173=) c.12589A= (p.Met4197=) | |
| 1 | g.237784268A>C | CA345413615 | RYR2 | c.*3648A>C (n.*3648A>C) c.12544A>C (p.Met4182Leu) c.12577A>C (p.Met4193Leu) c.4733A>C c.12556A>C (p.Met4186Leu) c.2609A>C c.12508A>C (p.Met4170Leu) n.3751A>C c.12610A>C (p.Met4204Leu) c.12607A>C (p.Met4203Leu) c.12586A>C (p.Met4196Leu) c.12580A>C (p.Met4194Leu) c.12574A>C (p.Met4192Leu) c.12550A>C (p.Met4184Leu) c.12373A>C (p.Met4125Leu) c.12517A>C (p.Met4173Leu) c.12589A>C (p.Met4197Leu) | dbSNP |
| 1 | g.237784268A>G | CA345413616 | RYR2 | c.*3648A>G (n.*3648A>G) c.12544A>G (p.Met4182Val) c.12577A>G (p.Met4193Val) c.4733A>G c.12556A>G (p.Met4186Val) c.2609A>G c.12508A>G (p.Met4170Val) n.3751A>G c.12610A>G (p.Met4204Val) c.12607A>G (p.Met4203Val) c.12586A>G (p.Met4196Val) c.12580A>G (p.Met4194Val) c.12574A>G (p.Met4192Val) c.12550A>G (p.Met4184Val) c.12373A>G (p.Met4125Val) c.12517A>G (p.Met4173Val) c.12589A>G (p.Met4197Val) | |
| 1 | g.237784268A>T | CA345413617 | RYR2 | c.*3648A>T (n.*3648A>T) c.12544A>T (p.Met4182Leu) c.12577A>T (p.Met4193Leu) c.4733A>T c.12556A>T (p.Met4186Leu) c.2609A>T c.12508A>T (p.Met4170Leu) n.3751A>T c.12610A>T (p.Met4204Leu) c.12607A>T (p.Met4203Leu) c.12586A>T (p.Met4196Leu) c.12580A>T (p.Met4194Leu) c.12574A>T (p.Met4192Leu) c.12550A>T (p.Met4184Leu) c.12373A>T (p.Met4125Leu) c.12517A>T (p.Met4173Leu) c.12589A>T (p.Met4197Leu) | |
| 1 | g.237784269T>A | CA345413618 | RYR2 | c.*3649T>A (n.*3649T>A) c.12545T>A (p.Met4182Lys) c.12578T>A (p.Met4193Lys) c.4734T>A c.12557T>A (p.Met4186Lys) c.2610T>A c.12509T>A (p.Met4170Lys) n.3752T>A c.12611T>A (p.Met4204Lys) c.12608T>A (p.Met4203Lys) c.12587T>A (p.Met4196Lys) c.12581T>A (p.Met4194Lys) c.12575T>A (p.Met4192Lys) c.12551T>A (p.Met4184Lys) c.12374T>A (p.Met4125Lys) c.12518T>A (p.Met4173Lys) c.12590T>A (p.Met4197Lys) | |
| 1 | g.237784269T>C | CA345413619 | RYR2 | c.*3649T>C (n.*3649T>C) c.12545T>C (p.Met4182Thr) c.12578T>C (p.Met4193Thr) c.4734T>C c.12557T>C (p.Met4186Thr) c.2610T>C c.12509T>C (p.Met4170Thr) n.3752T>C c.12611T>C (p.Met4204Thr) c.12608T>C (p.Met4203Thr) c.12587T>C (p.Met4196Thr) c.12581T>C (p.Met4194Thr) c.12575T>C (p.Met4192Thr) c.12551T>C (p.Met4184Thr) c.12374T>C (p.Met4125Thr) c.12518T>C (p.Met4173Thr) c.12590T>C (p.Met4197Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237784269T>G | CA345413620 | RYR2 | c.*3649T>G (n.*3649T>G) c.12545T>G (p.Met4182Arg) c.12578T>G (p.Met4193Arg) c.4734T>G c.12557T>G (p.Met4186Arg) c.2610T>G c.12509T>G (p.Met4170Arg) n.3752T>G c.12611T>G (p.Met4204Arg) c.12608T>G (p.Met4203Arg) c.12587T>G (p.Met4196Arg) c.12581T>G (p.Met4194Arg) c.12575T>G (p.Met4192Arg) c.12551T>G (p.Met4184Arg) c.12374T>G (p.Met4125Arg) c.12518T>G (p.Met4173Arg) c.12590T>G (p.Met4197Arg) | |
| 1 | g.237784269T= | CA2487482460 | RYR2 | c.*3649T= (n.*3649T=) c.12545T= (p.Met4182=) c.12578T= (p.Met4193=) c.4734T= c.12557T= (p.Met4186=) c.2610T= c.12509T= (p.Met4170=) n.3752T= c.12611T= (p.Met4204=) c.12608T= (p.Met4203=) c.12587T= (p.Met4196=) c.12581T= (p.Met4194=) c.12575T= (p.Met4192=) c.12551T= (p.Met4184=) c.12374T= (p.Met4125=) c.12518T= (p.Met4173=) c.12590T= (p.Met4197=) | |
| 1 | g.237784270G>A | CA066504 | RYR2 | c.*3650G>A (n.*3650G>A) c.12546G>A (p.Met4182Ile) c.12579G>A (p.Met4193Ile) c.4735G>A c.12558G>A (p.Met4186Ile) c.2611G>A c.12510G>A (p.Met4170Ile) n.3753G>A c.12612G>A (p.Met4204Ile) c.12609G>A (p.Met4203Ile) c.12588G>A (p.Met4196Ile) c.12582G>A (p.Met4194Ile) c.12576G>A (p.Met4192Ile) c.12552G>A (p.Met4184Ile) c.12375G>A (p.Met4125Ile) c.12519G>A (p.Met4173Ile) c.12591G>A (p.Met4197Ile) | |
| 1 | g.237784270G>C | CA345413621 | RYR2 | c.*3650G>C (n.*3650G>C) c.12546G>C (p.Met4182Ile) c.12579G>C (p.Met4193Ile) c.4735G>C c.12558G>C (p.Met4186Ile) c.2611G>C c.12510G>C (p.Met4170Ile) n.3753G>C c.12612G>C (p.Met4204Ile) c.12609G>C (p.Met4203Ile) c.12588G>C (p.Met4196Ile) c.12582G>C (p.Met4194Ile) c.12576G>C (p.Met4192Ile) c.12552G>C (p.Met4184Ile) c.12375G>C (p.Met4125Ile) c.12519G>C (p.Met4173Ile) c.12591G>C (p.Met4197Ile) | |
| 1 | g.237784270G>T | CA345413622 | RYR2 | c.*3650G>T (n.*3650G>T) c.12546G>T (p.Met4182Ile) c.12579G>T (p.Met4193Ile) c.4735G>T c.12558G>T (p.Met4186Ile) c.2611G>T c.12510G>T (p.Met4170Ile) n.3753G>T c.12612G>T (p.Met4204Ile) c.12609G>T (p.Met4203Ile) c.12588G>T (p.Met4196Ile) c.12582G>T (p.Met4194Ile) c.12576G>T (p.Met4192Ile) c.12552G>T (p.Met4184Ile) c.12375G>T (p.Met4125Ile) c.12519G>T (p.Met4173Ile) c.12591G>T (p.Met4197Ile) |