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.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=) |