UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.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) |