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 |
|---|---|---|---|---|---|
| 19 | g.38561351G>A | CA405669476 | RYR1 | c.931G>A c.913G>A c.12521G>A (p.Arg4174His) c.12506G>A (p.Arg4169His) c.12503G>A (p.Arg4168His) c.5890G>A c.12488G>A (p.Arg4163His) c.12518G>A (p.Arg4173His) | COSMIC |
| 19 | g.38561351G>C | CA405669480 | RYR1 | c.931G>C c.913G>C c.12521G>C (p.Arg4174Pro) c.12506G>C (p.Arg4169Pro) c.12503G>C (p.Arg4168Pro) c.5890G>C c.12488G>C (p.Arg4163Pro) c.12518G>C (p.Arg4173Pro) | ClinVar dbSNP |
| 19 | g.38561351G= | CA2335082629 | RYR1 | c.931G= c.913G= c.12521G= (p.Arg4174=) c.12506G= (p.Arg4169=) c.12503G= (p.Arg4168=) c.5890G= c.12488G= (p.Arg4163=) c.12518G= (p.Arg4173=) | |
| 19 | g.38561351G>T | CA405669478 | RYR1 | c.931G>T c.913G>T c.12521G>T (p.Arg4174Leu) c.12506G>T (p.Arg4169Leu) c.12503G>T (p.Arg4168Leu) c.5890G>T c.12488G>T (p.Arg4163Leu) c.12518G>T (p.Arg4173Leu) | |
| 19 | g.38561352C>A | CA507355335 | RYR1 | c.932C>A c.914C>A c.12522C>A (p.Arg4174=) c.12507C>A (p.Arg4169=) c.12504C>A (p.Arg4168=) c.5891C>A c.12489C>A (p.Arg4163=) c.12519C>A (p.Arg4173=) | gnomAD v4 |
| 19 | g.38561352C= | CA2335082630 | RYR1 | c.932C= c.914C= c.12522C= (p.Arg4174=) c.12507C= (p.Arg4169=) c.12504C= (p.Arg4168=) c.5891C= c.12489C= (p.Arg4163=) c.12519C= (p.Arg4173=) | |
| 19 | g.38561352C>G | CA507355336 | RYR1 | c.932C>G c.914C>G c.12522C>G (p.Arg4174=) c.12507C>G (p.Arg4169=) c.12504C>G (p.Arg4168=) c.5891C>G c.12489C>G (p.Arg4163=) c.12519C>G (p.Arg4173=) | |
| 19 | g.38561352C>T | CA059042 | RYR1 | c.932C>T c.914C>T c.12522C>T (p.Arg4174=) c.12507C>T (p.Arg4169=) c.12504C>T (p.Arg4168=) c.5891C>T c.12489C>T (p.Arg4163=) c.12519C>T (p.Arg4173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561353C>A | CA405669486 | RYR1 | c.933C>A c.915C>A c.12523C>A (p.Pro4175Thr) c.12508C>A (p.Pro4170Thr) c.12505C>A (p.Pro4169Thr) c.5892C>A c.12490C>A (p.Pro4164Thr) c.12520C>A (p.Pro4174Thr) | |
| 19 | g.38561353C= | CA2335082631 | RYR1 | c.933C= c.915C= c.12523C= (p.Pro4175=) c.12508C= (p.Pro4170=) c.12505C= (p.Pro4169=) c.5892C= c.12490C= (p.Pro4164=) c.12520C= (p.Pro4174=) | |
| 19 | g.38561353C>G | CA059048 | RYR1 | c.933C>G c.915C>G c.12523C>G (p.Pro4175Ala) c.12508C>G (p.Pro4170Ala) c.12505C>G (p.Pro4169Ala) c.5892C>G c.12490C>G (p.Pro4164Ala) c.12520C>G (p.Pro4174Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561353C>T | CA405669490 | RYR1 | c.933C>T c.915C>T c.12523C>T (p.Pro4175Ser) c.12508C>T (p.Pro4170Ser) c.12505C>T (p.Pro4169Ser) c.5892C>T c.12490C>T (p.Pro4164Ser) c.12520C>T (p.Pro4174Ser) | ClinVar dbSNP |
| 19 | g.38561354C>A | CA405669494 | RYR1 | c.934C>A c.916C>A c.12524C>A (p.Pro4175His) c.12509C>A (p.Pro4170His) c.12506C>A (p.Pro4169His) c.5893C>A c.12491C>A (p.Pro4164His) c.12521C>A (p.Pro4174His) | |
| 19 | g.38561354C>G | CA405669496 | RYR1 | c.934C>G c.916C>G c.12524C>G (p.Pro4175Arg) c.12509C>G (p.Pro4170Arg) c.12506C>G (p.Pro4169Arg) c.5893C>G c.12491C>G (p.Pro4164Arg) c.12521C>G (p.Pro4174Arg) | |
| 19 | g.38561354C>T | CA405669501 | RYR1 | c.934C>T c.916C>T c.12524C>T (p.Pro4175Leu) c.12509C>T (p.Pro4170Leu) c.12506C>T (p.Pro4169Leu) c.5893C>T c.12491C>T (p.Pro4164Leu) c.12521C>T (p.Pro4174Leu) | |
| 19 | g.38561356_38561357insGCCT | CA2573054757 | RYR1 | c.936_937insGCCT c.918_919insGCCT c.12526_12527insGCCT (p.Tyr4176CysfsTer?) c.12511_12512insGCCT (p.Tyr4171CysfsTer?) c.12508_12509insGCCT (p.Tyr4170CysfsTer?) c.5895_5896insGCCT c.12493_12494insGCCT (p.Tyr4165CysfsTer?) c.12523_12524insGCCT (p.Tyr4175CysfsTer?) | ClinVar dbSNP |
| 19 | g.38561355C>A | CA507355337 | RYR1 | c.935C>A c.917C>A c.12525C>A (p.Pro4175=) c.12510C>A (p.Pro4170=) c.12507C>A (p.Pro4169=) c.5894C>A c.12492C>A (p.Pro4164=) c.12522C>A (p.Pro4174=) | |
| 19 | g.38561355C= | CA2335082632 | RYR1 | c.935C= c.917C= c.12525C= (p.Pro4175=) c.12510C= (p.Pro4170=) c.12507C= (p.Pro4169=) c.5894C= c.12492C= (p.Pro4164=) c.12522C= (p.Pro4174=) | |
| 19 | g.38561355C>G | CA507355338 | RYR1 | c.935C>G c.917C>G c.12525C>G (p.Pro4175=) c.12510C>G (p.Pro4170=) c.12507C>G (p.Pro4169=) c.5894C>G c.12492C>G (p.Pro4164=) c.12522C>G (p.Pro4174=) | |
| 19 | g.38561355C>T | CA059062 | RYR1 | c.935C>T c.917C>T c.12525C>T (p.Pro4175=) c.12510C>T (p.Pro4170=) c.12507C>T (p.Pro4169=) c.5894C>T c.12492C>T (p.Pro4164=) c.12522C>T (p.Pro4174=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38561356T>A | CA405669502 | RYR1 | c.936T>A c.918T>A c.12526T>A (p.Tyr4176Asn) c.12511T>A (p.Tyr4171Asn) c.12508T>A (p.Tyr4170Asn) c.5895T>A c.12493T>A (p.Tyr4165Asn) c.12523T>A (p.Tyr4175Asn) | |
| 19 | g.38561356T>C | CA405669503 | RYR1 | c.936T>C c.918T>C c.12526T>C (p.Tyr4176His) c.12511T>C (p.Tyr4171His) c.12508T>C (p.Tyr4170His) c.5895T>C c.12493T>C (p.Tyr4165His) c.12523T>C (p.Tyr4175His) | |
| 19 | g.38561356T>G | CA405669504 | RYR1 | c.936T>G c.918T>G c.12526T>G (p.Tyr4176Asp) c.12511T>G (p.Tyr4171Asp) c.12508T>G (p.Tyr4170Asp) c.5895T>G c.12493T>G (p.Tyr4165Asp) c.12523T>G (p.Tyr4175Asp) | |
| 19 | g.38561357A= | CA2335082633 | RYR1 | c.937A= c.919A= c.12527A= (p.Tyr4176=) c.12512A= (p.Tyr4171=) c.12509A= (p.Tyr4170=) c.5896A= c.12494A= (p.Tyr4165=) c.12524A= (p.Tyr4175=) | |
| 19 | g.38561357A>C | CA405669505 | RYR1 | c.937A>C c.919A>C c.12527A>C (p.Tyr4176Ser) c.12512A>C (p.Tyr4171Ser) c.12509A>C (p.Tyr4170Ser) c.5896A>C c.12494A>C (p.Tyr4165Ser) c.12524A>C (p.Tyr4175Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561357A>G | CA405669507 | RYR1 | c.937A>G c.919A>G c.12527A>G (p.Tyr4176Cys) c.12512A>G (p.Tyr4171Cys) c.12509A>G (p.Tyr4170Cys) c.5896A>G c.12494A>G (p.Tyr4165Cys) c.12524A>G (p.Tyr4175Cys) | dbSNP |
| 19 | g.38561357A>T | CA405669508 | RYR1 | c.937A>T c.919A>T c.12527A>T (p.Tyr4176Phe) c.12512A>T (p.Tyr4171Phe) c.12509A>T (p.Tyr4170Phe) c.5896A>T c.12494A>T (p.Tyr4165Phe) c.12524A>T (p.Tyr4175Phe) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561358C>A | CA405669510 | RYR1 | c.938C>A c.920C>A c.12528C>A (p.Tyr4176Ter) c.12513C>A (p.Tyr4171Ter) c.12510C>A (p.Tyr4170Ter) c.5897C>A c.12495C>A (p.Tyr4165Ter) c.12525C>A (p.Tyr4175Ter) | |
| 19 | g.38561358C>G | CA405669515 | RYR1 | c.938C>G c.920C>G c.12528C>G (p.Tyr4176Ter) c.12513C>G (p.Tyr4171Ter) c.12510C>G (p.Tyr4170Ter) c.5897C>G c.12495C>G (p.Tyr4165Ter) c.12525C>G (p.Tyr4175Ter) | |
| 19 | g.38561358C>T | CA080700 | RYR1 | c.938C>T c.920C>T c.12528C>T (p.Tyr4176=) c.12513C>T (p.Tyr4171=) c.12510C>T (p.Tyr4170=) c.5897C>T c.12495C>T (p.Tyr4165=) c.12525C>T (p.Tyr4175=) | |
| 19 | g.38561359C>A | CA405669518 | RYR1 | c.939C>A c.921C>A c.12529C>A (p.Leu4177Met) c.12514C>A (p.Leu4172Met) c.12511C>A (p.Leu4171Met) c.5898C>A c.12496C>A (p.Leu4166Met) c.12526C>A (p.Leu4176Met) | |
| 19 | g.38561359C>G | CA405669520 | RYR1 | c.939C>G c.921C>G c.12529C>G (p.Leu4177Val) c.12514C>G (p.Leu4172Val) c.12511C>G (p.Leu4171Val) c.5898C>G c.12496C>G (p.Leu4166Val) c.12526C>G (p.Leu4176Val) | |
| 19 | g.38561359C>T | CA507355339 | RYR1 | c.939C>T c.921C>T c.12529C>T (p.Leu4177=) c.12514C>T (p.Leu4172=) c.12511C>T (p.Leu4171=) c.5898C>T c.12496C>T (p.Leu4166=) c.12526C>T (p.Leu4176=) | gnomAD v4 |
| 19 | g.38561360T>A | CA405669522 | RYR1 | c.940T>A c.922T>A c.12530T>A (p.Leu4177Gln) c.12515T>A (p.Leu4172Gln) c.12512T>A (p.Leu4171Gln) c.5899T>A c.12497T>A (p.Leu4166Gln) c.12527T>A (p.Leu4176Gln) | |
| 19 | g.38561360T>C | CA405669524 | RYR1 | c.940T>C c.922T>C c.12530T>C (p.Leu4177Pro) c.12515T>C (p.Leu4172Pro) c.12512T>C (p.Leu4171Pro) c.5899T>C c.12497T>C (p.Leu4166Pro) c.12527T>C (p.Leu4176Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38561360T>G | CA405669530 | RYR1 | c.940T>G c.922T>G c.12530T>G (p.Leu4177Arg) c.12515T>G (p.Leu4172Arg) c.12512T>G (p.Leu4171Arg) c.5899T>G c.12497T>G (p.Leu4166Arg) c.12527T>G (p.Leu4176Arg) | |
| 19 | g.38561360T= | CA2335082634 | RYR1 | c.940T= c.922T= c.12530T= (p.Leu4177=) c.12515T= (p.Leu4172=) c.12512T= (p.Leu4171=) c.5899T= c.12497T= (p.Leu4166=) c.12527T= (p.Leu4176=) | |
| 19 | g.38561361G>A | CA507355340 | RYR1 | c.941G>A c.923G>A c.12531G>A (p.Leu4177=) c.12516G>A (p.Leu4172=) c.12513G>A (p.Leu4171=) c.5900G>A c.12498G>A (p.Leu4166=) c.12528G>A (p.Leu4176=) | gnomAD v4 |
| 19 | g.38561361G>C | CA507355341 | RYR1 | c.941G>C c.923G>C c.12531G>C (p.Leu4177=) c.12516G>C (p.Leu4172=) c.12513G>C (p.Leu4171=) c.5900G>C c.12498G>C (p.Leu4166=) c.12528G>C (p.Leu4176=) | |
| 19 | g.38561361G>T | CA507355342 | RYR1 | c.941G>T c.923G>T c.12531G>T (p.Leu4177=) c.12516G>T (p.Leu4172=) c.12513G>T (p.Leu4171=) c.5900G>T c.12498G>T (p.Leu4166=) c.12528G>T (p.Leu4176=) | gnomAD v4 |
| 19 | g.38561361_38561387dup | CA2584908838 | RYR1 | c.941_967dup c.923_949dup c.12531_12557dup (p.Ser4186_Arg4187insGlyArgIleGluIleMetGlyAlaSer) c.12516_12542dup (p.Ser4181_Arg4182insGlyArgIleGluIleMetGlyAlaSer) c.12513_12539dup (p.Ser4180_Arg4181insGlyArgIleGluIleMetGlyAlaSer) c.5900_5926dup c.12498_12524dup (p.Ser4175_Arg4176insGlyArgIleGluIleMetGlyAlaSer) c.12528_12554dup (p.Ser4185_Arg4186insGlyArgIleGluIleMetGlyAlaSer) | ClinVar gnomAD v4 |
| 19 | g.38561362G>A | CA16043557 | RYR1 | c.942G>A c.924G>A c.12532G>A (p.Gly4178Ser) c.12517G>A (p.Gly4173Ser) c.12514G>A (p.Gly4172Ser) c.5901G>A c.12499G>A (p.Gly4167Ser) c.12529G>A (p.Gly4177Ser) | ClinVar dbSNP |
| 19 | g.38561362G>C | CA405669533 | RYR1 | c.942G>C c.924G>C c.12532G>C (p.Gly4178Arg) c.12517G>C (p.Gly4173Arg) c.12514G>C (p.Gly4172Arg) c.5901G>C c.12499G>C (p.Gly4167Arg) c.12529G>C (p.Gly4177Arg) | |
| 19 | g.38561362G= | CA2335082635 | RYR1 | c.942G= c.924G= c.12532G= (p.Gly4178=) c.12517G= (p.Gly4173=) c.12514G= (p.Gly4172=) c.5901G= c.12499G= (p.Gly4167=) c.12529G= (p.Gly4177=) | |
| 19 | g.38561362G>T | CA405669535 | RYR1 | c.942G>T c.924G>T c.12532G>T (p.Gly4178Cys) c.12517G>T (p.Gly4173Cys) c.12514G>T (p.Gly4172Cys) c.5901G>T c.12499G>T (p.Gly4167Cys) c.12529G>T (p.Gly4177Cys) | |
| 19 | g.38561362_38561389delinsGGCCGCATCGAGATCATGGGCGCGTCAC | CA2335082636 | RYR1 | c.942_969delinsGGCCGCATCGAGATCATGGGCGCGTCAC c.924_951delinsGGCCGCATCGAGATCATGGGCGCGTCAC c.12532_12559delinsGGCCGCATCGAGATCATGGGCGCGTCAC (p.Gly4178=) c.12517_12544delinsGGCCGCATCGAGATCATGGGCGCGTCAC (p.Gly4173=) c.12514_12541delinsGGCCGCATCGAGATCATGGGCGCGTCAC (p.Gly4172=) c.5901_5928delinsGGCCGCATCGAGATCATGGGCGCGTCAC c.12499_12526delinsGGCCGCATCGAGATCATGGGCGCGTCAC (p.Gly4167=) c.12529_12556delinsGGCCGCATCGAGATCATGGGCGCGTCAC (p.Gly4177=) | |
| 19 | g.38561363G>A | CA405669536 | RYR1 | c.943G>A c.925G>A c.12533G>A (p.Gly4178Asp) c.12518G>A (p.Gly4173Asp) c.12515G>A (p.Gly4172Asp) c.5902G>A c.12500G>A (p.Gly4167Asp) c.12530G>A (p.Gly4177Asp) | |
| 19 | g.38561363G>C | CA405669538 | RYR1 | c.943G>C c.925G>C c.12533G>C (p.Gly4178Ala) c.12518G>C (p.Gly4173Ala) c.12515G>C (p.Gly4172Ala) c.5902G>C c.12500G>C (p.Gly4167Ala) c.12530G>C (p.Gly4177Ala) | |
| 19 | g.38561363G= | CA2335082637 | RYR1 | c.943G= c.925G= c.12533G= (p.Gly4178=) c.12518G= (p.Gly4173=) c.12515G= (p.Gly4172=) c.5902G= c.12500G= (p.Gly4167=) c.12530G= (p.Gly4177=) | |
| 19 | g.38561363G>T | CA405669539 | RYR1 | c.943G>T c.925G>T c.12533G>T (p.Gly4178Val) c.12518G>T (p.Gly4173Val) c.12515G>T (p.Gly4172Val) c.5902G>T c.12500G>T (p.Gly4167Val) c.12530G>T (p.Gly4177Val) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561374_38561400del | CA633066788 | RYR1 | c.954_980del c.936_962del c.12544_12570del (p.Ile4182_Glu4190del) c.12529_12555del (p.Ile4177_Glu4185del) c.12526_12552del (p.Ile4176_Glu4184del) c.5913_5939del c.12511_12537del (p.Ile4171_Glu4179del) c.12541_12567del (p.Ile4181_Glu4189del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561364C>A | CA507355343 | RYR1 | c.944C>A c.926C>A c.12534C>A (p.Gly4178=) c.12519C>A (p.Gly4173=) c.12516C>A (p.Gly4172=) c.5903C>A c.12501C>A (p.Gly4167=) c.12531C>A (p.Gly4177=) | |
| 19 | g.38561364C>G | CA507355344 | RYR1 | c.944C>G c.926C>G c.12534C>G (p.Gly4178=) c.12519C>G (p.Gly4173=) c.12516C>G (p.Gly4172=) c.5903C>G c.12501C>G (p.Gly4167=) c.12531C>G (p.Gly4177=) | |
| 19 | g.38561364C>T | CA507355345 | RYR1 | c.944C>T c.926C>T c.12534C>T (p.Gly4178=) c.12519C>T (p.Gly4173=) c.12516C>T (p.Gly4172=) c.5903C>T c.12501C>T (p.Gly4167=) c.12531C>T (p.Gly4177=) | |
| 19 | g.38561364_38561365delinsTT | CA645609848 | RYR1 | c.944_945delinsTT c.926_927delinsTT c.12534_12535delinsTT (p.Arg4179Cys) c.12519_12520delinsTT (p.Arg4174Cys) c.12516_12517delinsTT (p.Arg4173Cys) c.5903_5904delinsTT c.12501_12502delinsTT (p.Arg4168Cys) c.12531_12532delinsTT (p.Arg4178Cys) | COSMIC |
| 19 | g.38561365C>A | CA405669542 | RYR1 | c.945C>A c.927C>A c.12535C>A (p.Arg4179Ser) c.12520C>A (p.Arg4174Ser) c.12517C>A (p.Arg4173Ser) c.5904C>A c.12502C>A (p.Arg4168Ser) c.12532C>A (p.Arg4178Ser) | |
| 19 | g.38561365C>G | CA405669546 | RYR1 | c.945C>G c.927C>G c.12535C>G (p.Arg4179Gly) c.12520C>G (p.Arg4174Gly) c.12517C>G (p.Arg4173Gly) c.5904C>G c.12502C>G (p.Arg4168Gly) c.12532C>G (p.Arg4178Gly) | |
| 19 | g.38561365C>T | CA405669545 | RYR1 | c.945C>T c.927C>T c.12535C>T (p.Arg4179Cys) c.12520C>T (p.Arg4174Cys) c.12517C>T (p.Arg4173Cys) c.5904C>T c.12502C>T (p.Arg4168Cys) c.12532C>T (p.Arg4178Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561366G>A | CA405669547 | RYR1 | c.946G>A c.928G>A c.12536G>A (p.Arg4179His) c.12521G>A (p.Arg4174His) c.12518G>A (p.Arg4173His) c.5905G>A c.12503G>A (p.Arg4168His) c.12533G>A (p.Arg4178His) | dbSNP gnomAD v4 COSMIC |
| 19 | g.38561366G>C | CA059065 | RYR1 | c.946G>C c.928G>C c.12536G>C (p.Arg4179Pro) c.12521G>C (p.Arg4174Pro) c.12518G>C (p.Arg4173Pro) c.5905G>C c.12503G>C (p.Arg4168Pro) c.12533G>C (p.Arg4178Pro) | dbSNP ExAC gnomAD v4 |
| 19 | g.38561366G= | CA2335082638 | RYR1 | c.946G= c.928G= c.12536G= (p.Arg4179=) c.12521G= (p.Arg4174=) c.12518G= (p.Arg4173=) c.5905G= c.12503G= (p.Arg4168=) c.12533G= (p.Arg4178=) | |
| 19 | g.38561366G>T | CA405669549 | RYR1 | c.946G>T c.928G>T c.12536G>T (p.Arg4179Leu) c.12521G>T (p.Arg4174Leu) c.12518G>T (p.Arg4173Leu) c.5905G>T c.12503G>T (p.Arg4168Leu) c.12533G>T (p.Arg4178Leu) | |
| 19 | g.38561367C>A | CA507355347 | RYR1 | c.947C>A c.929C>A c.12537C>A (p.Arg4179=) c.12522C>A (p.Arg4174=) c.12519C>A (p.Arg4173=) c.5906C>A c.12504C>A (p.Arg4168=) c.12534C>A (p.Arg4178=) | |
| 19 | g.38561367C= | CA2335082639 | RYR1 | c.947C= c.929C= c.12537C= (p.Arg4179=) c.12522C= (p.Arg4174=) c.12519C= (p.Arg4173=) c.5906C= c.12504C= (p.Arg4168=) c.12534C= (p.Arg4178=) | |
| 19 | g.38561367C>G | CA507355346 | RYR1 | c.947C>G c.929C>G c.12537C>G (p.Arg4179=) c.12522C>G (p.Arg4174=) c.12519C>G (p.Arg4173=) c.5906C>G c.12504C>G (p.Arg4168=) c.12534C>G (p.Arg4178=) | |
| 19 | g.38561367C>T | CA308105919 | RYR1 | c.947C>T c.929C>T c.12537C>T (p.Arg4179=) c.12522C>T (p.Arg4174=) c.12519C>T (p.Arg4173=) c.5906C>T c.12504C>T (p.Arg4168=) c.12534C>T (p.Arg4178=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561368A>C | CA405669550 | RYR1 | c.948A>C c.930A>C c.12538A>C (p.Ile4180Leu) c.12523A>C (p.Ile4175Leu) c.12520A>C (p.Ile4174Leu) c.5907A>C c.12505A>C (p.Ile4169Leu) c.12535A>C (p.Ile4179Leu) | |
| 19 | g.38561368A>G | CA405669552 | RYR1 | c.948A>G c.930A>G c.12538A>G (p.Ile4180Val) c.12523A>G (p.Ile4175Val) c.12520A>G (p.Ile4174Val) c.5907A>G c.12505A>G (p.Ile4169Val) c.12535A>G (p.Ile4179Val) | |
| 19 | g.38561368A>T | CA405669554 | RYR1 | c.948A>T c.930A>T c.12538A>T (p.Ile4180Phe) c.12523A>T (p.Ile4175Phe) c.12520A>T (p.Ile4174Phe) c.5907A>T c.12505A>T (p.Ile4169Phe) c.12535A>T (p.Ile4179Phe) | |
| 19 | g.38561369T>A | CA405669568 | RYR1 | c.949T>A c.931T>A c.12539T>A (p.Ile4180Asn) c.12524T>A (p.Ile4175Asn) c.12521T>A (p.Ile4174Asn) c.5908T>A c.12506T>A (p.Ile4169Asn) c.12536T>A (p.Ile4179Asn) | |
| 19 | g.38561369T>C | CA405669570 | RYR1 | c.949T>C c.931T>C c.12539T>C (p.Ile4180Thr) c.12524T>C (p.Ile4175Thr) c.12521T>C (p.Ile4174Thr) c.5908T>C c.12506T>C (p.Ile4169Thr) c.12536T>C (p.Ile4179Thr) | |
| 19 | g.38561369T>G | CA405669572 | RYR1 | c.949T>G c.931T>G c.12539T>G (p.Ile4180Ser) c.12524T>G (p.Ile4175Ser) c.12521T>G (p.Ile4174Ser) c.5908T>G c.12506T>G (p.Ile4169Ser) c.12536T>G (p.Ile4179Ser) | |
| 19 | g.38561370C>A | CA507355348 | RYR1 | c.950C>A c.932C>A c.12540C>A (p.Ile4180=) c.12525C>A (p.Ile4175=) c.12522C>A (p.Ile4174=) c.5909C>A c.12507C>A (p.Ile4169=) c.12537C>A (p.Ile4179=) | |
| 19 | g.38561370C= | CA2335082640 | RYR1 | c.950C= c.932C= c.12540C= (p.Ile4180=) c.12525C= (p.Ile4175=) c.12522C= (p.Ile4174=) c.5909C= c.12507C= (p.Ile4169=) c.12537C= (p.Ile4179=) | |
| 19 | g.38561370C>G | CA405669575 | RYR1 | c.950C>G c.932C>G c.12540C>G (p.Ile4180Met) c.12525C>G (p.Ile4175Met) c.12522C>G (p.Ile4174Met) c.5909C>G c.12507C>G (p.Ile4169Met) c.12537C>G (p.Ile4179Met) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38561370C>T | CA507355349 | RYR1 | c.950C>T c.932C>T c.12540C>T (p.Ile4180=) c.12525C>T (p.Ile4175=) c.12522C>T (p.Ile4174=) c.5909C>T c.12507C>T (p.Ile4169=) c.12537C>T (p.Ile4179=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561371G>A | CA405669578 | RYR1 | c.951G>A c.933G>A c.12541G>A (p.Glu4181Lys) c.12526G>A (p.Glu4176Lys) c.12523G>A (p.Glu4175Lys) c.5910G>A c.12508G>A (p.Glu4170Lys) c.12538G>A (p.Glu4180Lys) | dbSNP gnomAD v4 |
| 19 | g.38561371G>C | CA405669577 | RYR1 | c.951G>C c.933G>C c.12541G>C (p.Glu4181Gln) c.12526G>C (p.Glu4176Gln) c.12523G>C (p.Glu4175Gln) c.5910G>C c.12508G>C (p.Glu4170Gln) c.12538G>C (p.Glu4180Gln) | |
| 19 | g.38561371G= | CA2335082641 | RYR1 | c.951G= c.933G= c.12541G= (p.Glu4181=) c.12526G= (p.Glu4176=) c.12523G= (p.Glu4175=) c.5910G= c.12508G= (p.Glu4170=) c.12538G= (p.Glu4180=) | |
| 19 | g.38561371G>T | CA405669576 | RYR1 | c.951G>T c.933G>T c.12541G>T (p.Glu4181Ter) c.12526G>T (p.Glu4176Ter) c.12523G>T (p.Glu4175Ter) c.5910G>T c.12508G>T (p.Glu4170Ter) c.12538G>T (p.Glu4180Ter) | |
| 19 | g.38561372A= | CA2335082642 | RYR1 | c.952A= c.934A= c.12542A= (p.Glu4181=) c.12527A= (p.Glu4176=) c.12524A= (p.Glu4175=) c.5911A= c.12509A= (p.Glu4170=) c.12539A= (p.Glu4180=) | |
| 19 | g.38561372A>C | CA405669579 | RYR1 | c.952A>C c.934A>C c.12542A>C (p.Glu4181Ala) c.12527A>C (p.Glu4176Ala) c.12524A>C (p.Glu4175Ala) c.5911A>C c.12509A>C (p.Glu4170Ala) c.12539A>C (p.Glu4180Ala) | |
| 19 | g.38561372A>G | CA308105924 | RYR1 | c.952A>G c.934A>G c.12542A>G (p.Glu4181Gly) c.12527A>G (p.Glu4176Gly) c.12524A>G (p.Glu4175Gly) c.5911A>G c.12509A>G (p.Glu4170Gly) c.12539A>G (p.Glu4180Gly) | dbSNP |
| 19 | g.38561372A>T | CA405669581 | RYR1 | c.952A>T c.934A>T c.12542A>T (p.Glu4181Val) c.12527A>T (p.Glu4176Val) c.12524A>T (p.Glu4175Val) c.5911A>T c.12509A>T (p.Glu4170Val) c.12539A>T (p.Glu4180Val) | |
| 19 | g.38561373G>A | CA507355350 | RYR1 | c.953G>A c.935G>A c.12543G>A (p.Glu4181=) c.12528G>A (p.Glu4176=) c.12525G>A (p.Glu4175=) c.5912G>A c.12510G>A (p.Glu4170=) c.12540G>A (p.Glu4180=) | |
| 19 | g.38561373G>C | CA405669584 | RYR1 | c.953G>C c.935G>C c.12543G>C (p.Glu4181Asp) c.12528G>C (p.Glu4176Asp) c.12525G>C (p.Glu4175Asp) c.5912G>C c.12510G>C (p.Glu4170Asp) c.12540G>C (p.Glu4180Asp) | |
| 19 | g.38561373G>T | CA405669587 | RYR1 | c.953G>T c.935G>T c.12543G>T (p.Glu4181Asp) c.12528G>T (p.Glu4176Asp) c.12525G>T (p.Glu4175Asp) c.5912G>T c.12510G>T (p.Glu4170Asp) c.12540G>T (p.Glu4180Asp) | gnomAD v4 |
| 19 | g.38561374A>C | CA405669589 | RYR1 | c.954A>C c.936A>C c.12544A>C (p.Ile4182Leu) c.12529A>C (p.Ile4177Leu) c.12526A>C (p.Ile4176Leu) c.5913A>C c.12511A>C (p.Ile4171Leu) c.12541A>C (p.Ile4181Leu) | |
| 19 | g.38561374A>G | CA405669592 | RYR1 | c.954A>G c.936A>G c.12544A>G (p.Ile4182Val) c.12529A>G (p.Ile4177Val) c.12526A>G (p.Ile4176Val) c.5913A>G c.12511A>G (p.Ile4171Val) c.12541A>G (p.Ile4181Val) | |
| 19 | g.38561374A>T | CA405669593 | RYR1 | c.954A>T c.936A>T c.12544A>T (p.Ile4182Phe) c.12529A>T (p.Ile4177Phe) c.12526A>T (p.Ile4176Phe) c.5913A>T c.12511A>T (p.Ile4171Phe) c.12541A>T (p.Ile4181Phe) | |
| 19 | g.38561375T>A | CA405669596 | RYR1 | c.955T>A c.937T>A c.12545T>A (p.Ile4182Asn) c.12530T>A (p.Ile4177Asn) c.12527T>A (p.Ile4176Asn) c.5914T>A c.12512T>A (p.Ile4171Asn) c.12542T>A (p.Ile4181Asn) | |
| 19 | g.38561375T>C | CA405669597 | RYR1 | c.955T>C c.937T>C c.12545T>C (p.Ile4182Thr) c.12530T>C (p.Ile4177Thr) c.12527T>C (p.Ile4176Thr) c.5914T>C c.12512T>C (p.Ile4171Thr) c.12542T>C (p.Ile4181Thr) | |
| 19 | g.38561375T>G | CA405669598 | RYR1 | c.955T>G c.937T>G c.12545T>G (p.Ile4182Ser) c.12530T>G (p.Ile4177Ser) c.12527T>G (p.Ile4176Ser) c.5914T>G c.12512T>G (p.Ile4171Ser) c.12542T>G (p.Ile4181Ser) | |
| 19 | g.38561376C>A | CA507355351 | RYR1 | c.956C>A c.938C>A c.12546C>A (p.Ile4182=) c.12531C>A (p.Ile4177=) c.12528C>A (p.Ile4176=) c.5915C>A c.12513C>A (p.Ile4171=) c.12543C>A (p.Ile4181=) | |
| 19 | g.38561376C= | CA2335082643 | RYR1 | c.956C= c.938C= c.12546C= (p.Ile4182=) c.12531C= (p.Ile4177=) c.12528C= (p.Ile4176=) c.5915C= c.12513C= (p.Ile4171=) c.12543C= (p.Ile4181=) | |
| 19 | g.38561376C>G | CA405669599 | RYR1 | c.956C>G c.938C>G c.12546C>G (p.Ile4182Met) c.12531C>G (p.Ile4177Met) c.12528C>G (p.Ile4176Met) c.5915C>G c.12513C>G (p.Ile4171Met) c.12543C>G (p.Ile4181Met) | COSMIC |
| 19 | g.38561376C>T | CA507355352 | RYR1 | c.956C>T c.938C>T c.12546C>T (p.Ile4182=) c.12531C>T (p.Ile4177=) c.12528C>T (p.Ile4176=) c.5915C>T c.12513C>T (p.Ile4171=) c.12543C>T (p.Ile4181=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38561377A>C | CA405669601 | RYR1 | c.957A>C c.939A>C c.12547A>C (p.Met4183Leu) c.12532A>C (p.Met4178Leu) c.12529A>C (p.Met4177Leu) c.5916A>C c.12514A>C (p.Met4172Leu) c.12544A>C (p.Met4182Leu) | |
| 19 | g.38561377A>G | CA405669603 | RYR1 | c.957A>G c.939A>G c.12547A>G (p.Met4183Val) c.12532A>G (p.Met4178Val) c.12529A>G (p.Met4177Val) c.5916A>G c.12514A>G (p.Met4172Val) c.12544A>G (p.Met4182Val) | gnomAD v4 |
| 19 | g.38561377A>T | CA405669600 | RYR1 | c.957A>T c.939A>T c.12547A>T (p.Met4183Leu) c.12532A>T (p.Met4178Leu) c.12529A>T (p.Met4177Leu) c.5916A>T c.12514A>T (p.Met4172Leu) c.12544A>T (p.Met4182Leu) | |
| 19 | g.38561378T>A | CA405669610 | RYR1 | c.958T>A c.940T>A c.12548T>A (p.Met4183Lys) c.12533T>A (p.Met4178Lys) c.12530T>A (p.Met4177Lys) c.5917T>A c.12515T>A (p.Met4172Lys) c.12545T>A (p.Met4182Lys) | |
| 19 | g.38561378T>C | CA405669605 | RYR1 | c.958T>C c.940T>C c.12548T>C (p.Met4183Thr) c.12533T>C (p.Met4178Thr) c.12530T>C (p.Met4177Thr) c.5917T>C c.12515T>C (p.Met4172Thr) c.12545T>C (p.Met4182Thr) | |
| 19 | g.38561378T>G | CA405669609 | RYR1 | c.958T>G c.940T>G c.12548T>G (p.Met4183Arg) c.12533T>G (p.Met4178Arg) c.12530T>G (p.Met4177Arg) c.5917T>G c.12515T>G (p.Met4172Arg) c.12545T>G (p.Met4182Arg) | |
| 19 | g.38561379G>A | CA405669613 | RYR1 | c.959G>A c.941G>A c.12549G>A (p.Met4183Ile) c.12534G>A (p.Met4178Ile) c.12531G>A (p.Met4177Ile) c.5918G>A c.12516G>A (p.Met4172Ile) c.12546G>A (p.Met4182Ile) | gnomAD v4 |
| 19 | g.38561379G>C | CA405669627 | RYR1 | c.959G>C c.941G>C c.12549G>C (p.Met4183Ile) c.12534G>C (p.Met4178Ile) c.12531G>C (p.Met4177Ile) c.5918G>C c.12516G>C (p.Met4172Ile) c.12546G>C (p.Met4182Ile) | |
| 19 | g.38561379G>T | CA405669629 | RYR1 | c.959G>T c.941G>T c.12549G>T (p.Met4183Ile) c.12534G>T (p.Met4178Ile) c.12531G>T (p.Met4177Ile) c.5918G>T c.12516G>T (p.Met4172Ile) c.12546G>T (p.Met4182Ile) | |
| 19 | g.38561380G>A | CA405669631 | RYR1 | c.960G>A c.942G>A c.12550G>A (p.Gly4184Ser) c.12535G>A (p.Gly4179Ser) c.12532G>A (p.Gly4178Ser) c.5919G>A c.12517G>A (p.Gly4173Ser) c.12547G>A (p.Gly4183Ser) | |
| 19 | g.38561380G>C | CA405669632 | RYR1 | c.960G>C c.942G>C c.12550G>C (p.Gly4184Arg) c.12535G>C (p.Gly4179Arg) c.12532G>C (p.Gly4178Arg) c.5919G>C c.12517G>C (p.Gly4173Arg) c.12547G>C (p.Gly4183Arg) | |
| 19 | g.38561380G= | CA2335082644 | RYR1 | c.960G= c.942G= c.12550G= (p.Gly4184=) c.12535G= (p.Gly4179=) c.12532G= (p.Gly4178=) c.5919G= c.12517G= (p.Gly4173=) c.12547G= (p.Gly4183=) | |
| 19 | g.38561380G>T | CA405669633 | RYR1 | c.960G>T c.942G>T c.12550G>T (p.Gly4184Cys) c.12535G>T (p.Gly4179Cys) c.12532G>T (p.Gly4178Cys) c.5919G>T c.12517G>T (p.Gly4173Cys) c.12547G>T (p.Gly4183Cys) | ClinVar dbSNP |
| 19 | g.38561381G>A | CA405669634 | RYR1 | c.961G>A c.943G>A c.12551G>A (p.Gly4184Asp) c.12536G>A (p.Gly4179Asp) c.12533G>A (p.Gly4178Asp) c.5920G>A c.12518G>A (p.Gly4173Asp) c.12548G>A (p.Gly4183Asp) | dbSNP |
| 19 | g.38561381G>C | CA405669637 | RYR1 | c.961G>C c.943G>C c.12551G>C (p.Gly4184Ala) c.12536G>C (p.Gly4179Ala) c.12533G>C (p.Gly4178Ala) c.5920G>C c.12518G>C (p.Gly4173Ala) c.12548G>C (p.Gly4183Ala) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561381G= | CA2335082645 | RYR1 | c.961G= c.943G= c.12551G= (p.Gly4184=) c.12536G= (p.Gly4179=) c.12533G= (p.Gly4178=) c.5920G= c.12518G= (p.Gly4173=) c.12548G= (p.Gly4183=) | |
| 19 | g.38561381G>T | CA405669641 | RYR1 | c.961G>T c.943G>T c.12551G>T (p.Gly4184Val) c.12536G>T (p.Gly4179Val) c.12533G>T (p.Gly4178Val) c.5920G>T c.12518G>T (p.Gly4173Val) c.12548G>T (p.Gly4183Val) | gnomAD v4 |
| 19 | g.38561382C>A | CA507355353 | RYR1 | c.962C>A c.944C>A c.12552C>A (p.Gly4184=) c.12537C>A (p.Gly4179=) c.12534C>A (p.Gly4178=) c.5921C>A c.12519C>A (p.Gly4173=) c.12549C>A (p.Gly4183=) | |
| 19 | g.38561382C= | CA2335082646 | RYR1 | c.962C= c.944C= c.12552C= (p.Gly4184=) c.12537C= (p.Gly4179=) c.12534C= (p.Gly4178=) c.5921C= c.12519C= (p.Gly4173=) c.12549C= (p.Gly4183=) | |
| 19 | g.38561382C>G | CA507355354 | RYR1 | c.962C>G c.944C>G c.12552C>G (p.Gly4184=) c.12537C>G (p.Gly4179=) c.12534C>G (p.Gly4178=) c.5921C>G c.12519C>G (p.Gly4173=) c.12549C>G (p.Gly4183=) | dbSNP |
| 19 | g.38561382C>T | CA059070 | RYR1 | c.962C>T c.944C>T c.12552C>T (p.Gly4184=) c.12537C>T (p.Gly4179=) c.12534C>T (p.Gly4178=) c.5921C>T c.12519C>T (p.Gly4173=) c.12549C>T (p.Gly4183=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38561383G>A | CA059076 | RYR1 | c.963G>A c.945G>A c.12553G>A (p.Ala4185Thr) c.12538G>A (p.Ala4180Thr) c.12535G>A (p.Ala4179Thr) c.5922G>A c.12520G>A (p.Ala4174Thr) c.12550G>A (p.Ala4184Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38561383G>C | CA405669647 | RYR1 | c.963G>C c.945G>C c.12553G>C (p.Ala4185Pro) c.12538G>C (p.Ala4180Pro) c.12535G>C (p.Ala4179Pro) c.5922G>C c.12520G>C (p.Ala4174Pro) c.12550G>C (p.Ala4184Pro) | gnomAD v4 |
| 19 | g.38561383G= | CA2335082647 | RYR1 | c.963G= c.945G= c.12553G= (p.Ala4185=) c.12538G= (p.Ala4180=) c.12535G= (p.Ala4179=) c.5922G= c.12520G= (p.Ala4174=) c.12550G= (p.Ala4184=) | |
| 19 | g.38561383G>T | CA405669646 | RYR1 | c.963G>T c.945G>T c.12553G>T (p.Ala4185Ser) c.12538G>T (p.Ala4180Ser) c.12535G>T (p.Ala4179Ser) c.5922G>T c.12520G>T (p.Ala4174Ser) c.12550G>T (p.Ala4184Ser) | |
| 19 | g.38561383_38561384insGACCTGGCCCACACAAGGATGCACACCCCTTGGGCATGAAGCAGGGTCAGTGTGTCCTGACTGTGGCTGCTCACA | CA2584908839 | RYR1 | c.963_964insGACCTGGCCCACACAAGGATGCACACCCCTTGGGCATGAAGCAGGGTCAGTGTGTCCTGACTGTGGCTGCTCACA c.945_946insGACCTGGCCCACACAAGGATGCACACCCCTTGGGCATGAAGCAGGGTCAGTGTGTCCTGACTGTGGCTGCTCACA c.12553_12554insGACCTGGCCCACACAAGGATGCACACCCCTTGGGCATGAAGCAGGGTCAGTGTGTCCTGACTGTGGCTGCTCACA (p.Ala4185delinsGlyProGlyProHisLysAspAlaHisProLeuGlyMetLysGlnGlyGlnCysValLeuThrValAlaAlaHisThr) c.12538_12539insGACCTGGCCCACACAAGGATGCACACCCCTTGGGCATGAAGCAGGGTCAGTGTGTCCTGACTGTGGCTGCTCACA (p.Ala4180delinsGlyProGlyProHisLysAspAlaHisProLeuGlyMetLysGlnGlyGlnCysValLeuThrValAlaAlaHisThr) c.12535_12536insGACCTGGCCCACACAAGGATGCACACCCCTTGGGCATGAAGCAGGGTCAGTGTGTCCTGACTGTGGCTGCTCACA (p.Ala4179delinsGlyProGlyProHisLysAspAlaHisProLeuGlyMetLysGlnGlyGlnCysValLeuThrValAlaAlaHisThr) c.5922_5923insGACCTGGCCCACACAAGGATGCACACCCCTTGGGCATGAAGCAGGGTCAGTGTGTCCTGACTGTGGCTGCTCACA c.12520_12521insGACCTGGCCCACACAAGGATGCACACCCCTTGGGCATGAAGCAGGGTCAGTGTGTCCTGACTGTGGCTGCTCACA (p.Ala4174delinsGlyProGlyProHisLysAspAlaHisProLeuGlyMetLysGlnGlyGlnCysValLeuThrValAlaAlaHisThr) c.12550_12551insGACCTGGCCCACACAAGGATGCACACCCCTTGGGCATGAAGCAGGGTCAGTGTGTCCTGACTGTGGCTGCTCACA (p.Ala4184delinsGlyProGlyProHisLysAspAlaHisProLeuGlyMetLysGlnGlyGlnCysValLeuThrValAlaAlaHisThr) | gnomAD v4 |
| 19 | g.38561384C>A | CA059082 | RYR1 | c.964C>A c.946C>A c.12554C>A (p.Ala4185Glu) c.12539C>A (p.Ala4180Glu) c.12536C>A (p.Ala4179Glu) c.5923C>A c.12521C>A (p.Ala4174Glu) c.12551C>A (p.Ala4184Glu) | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.38561384C= | CA2335082648 | RYR1 | c.964C= c.946C= c.12554C= (p.Ala4185=) c.12539C= (p.Ala4180=) c.12536C= (p.Ala4179=) c.5923C= c.12521C= (p.Ala4174=) c.12551C= (p.Ala4184=) | |
| 19 | g.38561384C>G | CA405669648 | RYR1 | c.964C>G c.946C>G c.12554C>G (p.Ala4185Gly) c.12539C>G (p.Ala4180Gly) c.12536C>G (p.Ala4179Gly) c.5923C>G c.12521C>G (p.Ala4174Gly) c.12551C>G (p.Ala4184Gly) | |
| 19 | g.38561384C>T | CA059086 | RYR1 | c.964C>T c.946C>T c.12554C>T (p.Ala4185Val) c.12539C>T (p.Ala4180Val) c.12536C>T (p.Ala4179Val) c.5923C>T c.12521C>T (p.Ala4174Val) c.12551C>T (p.Ala4184Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38561385G>A | CA507355355 | RYR1 | c.965G>A c.947G>A c.12555G>A (p.Ala4185=) c.12540G>A (p.Ala4180=) c.12537G>A (p.Ala4179=) c.5924G>A c.12522G>A (p.Ala4174=) c.12552G>A (p.Ala4184=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38561385G>C | CA507355356 | RYR1 | c.965G>C c.947G>C c.12555G>C (p.Ala4185=) c.12540G>C (p.Ala4180=) c.12537G>C (p.Ala4179=) c.5924G>C c.12522G>C (p.Ala4174=) c.12552G>C (p.Ala4184=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561385G= | CA2335082649 | RYR1 | c.965G= c.947G= c.12555G= (p.Ala4185=) c.12540G= (p.Ala4180=) c.12537G= (p.Ala4179=) c.5924G= c.12522G= (p.Ala4174=) c.12552G= (p.Ala4184=) | |
| 19 | g.38561385G>T | CA507355357 | RYR1 | c.965G>T c.947G>T c.12555G>T (p.Ala4185=) c.12540G>T (p.Ala4180=) c.12537G>T (p.Ala4179=) c.5924G>T c.12522G>T (p.Ala4174=) c.12552G>T (p.Ala4184=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561385_38561386insCCATGCTTTCCCCTTACACCCACACCC | CA2584908840 | RYR1 | c.965_966insCCATGCTTTCCCCTTACACCCACACCC c.947_948insCCATGCTTTCCCCTTACACCCACACCC c.12555_12556insCCATGCTTTCCCCTTACACCCACACCC (p.Ala4185_Ser4186insProCysPheProLeuThrProThrPro) c.12540_12541insCCATGCTTTCCCCTTACACCCACACCC (p.Ala4180_Ser4181insProCysPheProLeuThrProThrPro) c.12537_12538insCCATGCTTTCCCCTTACACCCACACCC (p.Ala4179_Ser4180insProCysPheProLeuThrProThrPro) c.5924_5925insCCATGCTTTCCCCTTACACCCACACCC c.12522_12523insCCATGCTTTCCCCTTACACCCACACCC (p.Ala4174_Ser4175insProCysPheProLeuThrProThrPro) c.12552_12553insCCATGCTTTCCCCTTACACCCACACCC (p.Ala4184_Ser4185insProCysPheProLeuThrProThrPro) | gnomAD v4 |
| 19 | g.38561386T>A | CA405669652 | RYR1 | c.966T>A c.948T>A c.12556T>A (p.Ser4186Thr) c.12541T>A (p.Ser4181Thr) c.12538T>A (p.Ser4180Thr) c.5925T>A c.12523T>A (p.Ser4175Thr) c.12553T>A (p.Ser4185Thr) | |
| 19 | g.38561386T>C | CA405669653 | RYR1 | c.966T>C c.948T>C c.12556T>C (p.Ser4186Pro) c.12541T>C (p.Ser4181Pro) c.12538T>C (p.Ser4180Pro) c.5925T>C c.12523T>C (p.Ser4175Pro) c.12553T>C (p.Ser4185Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561386T>G | CA405669654 | RYR1 | c.966T>G c.948T>G c.12556T>G (p.Ser4186Ala) c.12541T>G (p.Ser4181Ala) c.12538T>G (p.Ser4180Ala) c.5925T>G c.12523T>G (p.Ser4175Ala) c.12553T>G (p.Ser4185Ala) | dbSNP |
| 19 | g.38561386T= | CA2335082650 | RYR1 | c.966T= c.948T= c.12556T= (p.Ser4186=) c.12541T= (p.Ser4181=) c.12538T= (p.Ser4180=) c.5925T= c.12523T= (p.Ser4175=) c.12553T= (p.Ser4185=) | |
| 19 | g.38561387C>A | CA080704 | RYR1 | c.967C>A c.949C>A c.12557C>A (p.Ser4186Ter) c.12542C>A (p.Ser4181Ter) c.12539C>A (p.Ser4180Ter) c.5926C>A c.12524C>A (p.Ser4175Ter) c.12554C>A (p.Ser4185Ter) | |
| 19 | g.38561387C>G | CA405669655 | RYR1 | c.967C>G c.949C>G c.12557C>G (p.Ser4186Ter) c.12542C>G (p.Ser4181Ter) c.12539C>G (p.Ser4180Ter) c.5926C>G c.12524C>G (p.Ser4175Ter) c.12554C>G (p.Ser4185Ter) | COSMIC |
| 19 | g.38561387C>T | CA080705 | RYR1 | c.967C>T c.949C>T c.12557C>T (p.Ser4186Leu) c.12542C>T (p.Ser4181Leu) c.12539C>T (p.Ser4180Leu) c.5926C>T c.12524C>T (p.Ser4175Leu) c.12554C>T (p.Ser4185Leu) | |
| 19 | g.38561388A>C | CA507355358 | RYR1 | c.968A>C c.950A>C c.12558A>C (p.Ser4186=) c.12543A>C (p.Ser4181=) c.12540A>C (p.Ser4180=) c.5927A>C c.12525A>C (p.Ser4175=) c.12555A>C (p.Ser4185=) | |
| 19 | g.38561388A>G | CA507355359 | RYR1 | c.968A>G c.950A>G c.12558A>G (p.Ser4186=) c.12543A>G (p.Ser4181=) c.12540A>G (p.Ser4180=) c.5927A>G c.12525A>G (p.Ser4175=) c.12555A>G (p.Ser4185=) | |
| 19 | g.38561388A>T | CA507355360 | RYR1 | c.968A>T c.950A>T c.12558A>T (p.Ser4186=) c.12543A>T (p.Ser4181=) c.12540A>T (p.Ser4180=) c.5927A>T c.12525A>T (p.Ser4175=) c.12555A>T (p.Ser4185=) | |
| 19 | g.38561389C>A | CA059097 | RYR1 | c.969C>A c.951C>A c.12559C>A (p.Arg4187Ser) c.12544C>A (p.Arg4182Ser) c.12541C>A (p.Arg4181Ser) c.5928C>A c.12526C>A (p.Arg4176Ser) c.12556C>A (p.Arg4186Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38561389C= | CA2335082651 | RYR1 | c.969C= c.951C= c.12559C= (p.Arg4187=) c.12544C= (p.Arg4182=) c.12541C= (p.Arg4181=) c.5928C= c.12526C= (p.Arg4176=) c.12556C= (p.Arg4186=) | |
| 19 | g.38561389C>G | CA405669656 | RYR1 | c.969C>G c.951C>G c.12559C>G (p.Arg4187Gly) c.12544C>G (p.Arg4182Gly) c.12541C>G (p.Arg4181Gly) c.5928C>G c.12526C>G (p.Arg4176Gly) c.12556C>G (p.Arg4186Gly) | ClinVar gnomAD v4 |
| 19 | g.38561389C>T | CA405669665 | RYR1 | c.969C>T c.951C>T c.12559C>T (p.Arg4187Cys) c.12544C>T (p.Arg4182Cys) c.12541C>T (p.Arg4181Cys) c.5928C>T c.12526C>T (p.Arg4176Cys) c.12556C>T (p.Arg4186Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38561390G>A | CA059101 | RYR1 | c.970G>A c.952G>A c.12560G>A (p.Arg4187His) c.12545G>A (p.Arg4182His) c.12542G>A (p.Arg4181His) c.5929G>A c.12527G>A (p.Arg4176His) c.12557G>A (p.Arg4186His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561390G>C | CA405669674 | RYR1 | c.970G>C c.952G>C c.12560G>C (p.Arg4187Pro) c.12545G>C (p.Arg4182Pro) c.12542G>C (p.Arg4181Pro) c.5929G>C c.12527G>C (p.Arg4176Pro) c.12557G>C (p.Arg4186Pro) | |
| 19 | g.38561390G= | CA2335082652 | RYR1 | c.970G= c.952G= c.12560G= (p.Arg4187=) c.12545G= (p.Arg4182=) c.12542G= (p.Arg4181=) c.5929G= c.12527G= (p.Arg4176=) c.12557G= (p.Arg4186=) | |
| 19 | g.38561390G>T | CA405669668 | RYR1 | c.970G>T c.952G>T c.12560G>T (p.Arg4187Leu) c.12545G>T (p.Arg4182Leu) c.12542G>T (p.Arg4181Leu) c.5929G>T c.12527G>T (p.Arg4176Leu) c.12557G>T (p.Arg4186Leu) | |
| 19 | g.38561391C>A | CA507355361 | RYR1 | c.971C>A c.953C>A c.12561C>A (p.Arg4187=) c.12546C>A (p.Arg4182=) c.12543C>A (p.Arg4181=) c.5930C>A c.12528C>A (p.Arg4176=) c.12558C>A (p.Arg4186=) | |
| 19 | g.38561391C= | CA2335082654 | RYR1 | c.971C= c.953C= c.12561C= (p.Arg4187=) c.12546C= (p.Arg4182=) c.12543C= (p.Arg4181=) c.5930C= c.12528C= (p.Arg4176=) c.12558C= (p.Arg4186=) | |
| 19 | g.38561391C>G | CA507355363 | RYR1 | c.971C>G c.953C>G c.12561C>G (p.Arg4187=) c.12546C>G (p.Arg4182=) c.12543C>G (p.Arg4181=) c.5930C>G c.12528C>G (p.Arg4176=) c.12558C>G (p.Arg4186=) | dbSNP |
| 19 | g.38561391C>T | CA507355362 | RYR1 | c.971C>T c.953C>T c.12561C>T (p.Arg4187=) c.12546C>T (p.Arg4182=) c.12543C>T (p.Arg4181=) c.5930C>T c.12528C>T (p.Arg4176=) c.12558C>T (p.Arg4186=) | dbSNP |
| 19 | g.38561392del | CA2584908841 | RYR1 | c.972del c.954del c.12562del (p.Arg4188AlafsTer22) c.12547del (p.Arg4183AlafsTer22) c.12544del (p.Arg4182AlafsTer22) c.5931del c.12529del (p.Arg4177AlafsTer22) c.12559del (p.Arg4187AlafsTer22) | gnomAD v4 |
| 19 | g.38561391_38561400delinsCCGCATCGAG | CA2335082653 | RYR1 | c.971_980delinsCCGCATCGAG c.953_962delinsCCGCATCGAG c.12561_12570delinsCCGCATCGAG (p.Arg4187=) c.12546_12555delinsCCGCATCGAG (p.Arg4182=) c.12543_12552delinsCCGCATCGAG (p.Arg4181=) c.5930_5939delinsCCGCATCGAG c.12528_12537delinsCCGCATCGAG (p.Arg4176=) c.12558_12567delinsCCGCATCGAG (p.Arg4186=) | |
| 19 | g.38561392C>A | CA080706 | RYR1 | c.972C>A c.954C>A c.12562C>A (p.Arg4188Ser) c.12547C>A (p.Arg4183Ser) c.12544C>A (p.Arg4182Ser) c.5931C>A c.12529C>A (p.Arg4177Ser) c.12559C>A (p.Arg4187Ser) | |
| 19 | g.38561392C= | CA2335082655 | RYR1 | c.972C= c.954C= c.12562C= (p.Arg4188=) c.12547C= (p.Arg4183=) c.12544C= (p.Arg4182=) c.5931C= c.12529C= (p.Arg4177=) c.12559C= (p.Arg4187=) | |
| 19 | g.38561392C>G | CA405669687 | RYR1 | c.972C>G c.954C>G c.12562C>G (p.Arg4188Gly) c.12547C>G (p.Arg4183Gly) c.12544C>G (p.Arg4182Gly) c.5931C>G c.12529C>G (p.Arg4177Gly) c.12559C>G (p.Arg4187Gly) | |
| 19 | g.38561392C>T | CA405669689 | RYR1 | c.972C>T c.954C>T c.12562C>T (p.Arg4188Cys) c.12547C>T (p.Arg4183Cys) c.12544C>T (p.Arg4182Cys) c.5931C>T c.12529C>T (p.Arg4177Cys) c.12559C>T (p.Arg4187Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561398_38561406del | CA633066789 | RYR1 | c.978_986del c.960_968del c.12568_12576del (p.Glu4190_Ile4192del) c.12553_12561del (p.Glu4185_Ile4187del) c.12550_12558del (p.Glu4184_Ile4186del) c.5937_5945del c.12535_12543del (p.Glu4179_Ile4181del) c.12565_12573del (p.Glu4189_Ile4191del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561393G>A | CA059108 | RYR1 | c.973G>A c.955G>A c.12563G>A (p.Arg4188His) c.12548G>A (p.Arg4183His) c.12545G>A (p.Arg4182His) c.5932G>A c.12530G>A (p.Arg4177His) c.12560G>A (p.Arg4187His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38561393G>C | CA405669692 | RYR1 | c.973G>C c.955G>C c.12563G>C (p.Arg4188Pro) c.12548G>C (p.Arg4183Pro) c.12545G>C (p.Arg4182Pro) c.5932G>C c.12530G>C (p.Arg4177Pro) c.12560G>C (p.Arg4187Pro) | |
| 19 | g.38561393G= | CA2335082656 | RYR1 | c.973G= c.955G= c.12563G= (p.Arg4188=) c.12548G= (p.Arg4183=) c.12545G= (p.Arg4182=) c.5932G= c.12530G= (p.Arg4177=) c.12560G= (p.Arg4187=) | |
| 19 | g.38561393G>T | CA308105940 | RYR1 | c.973G>T c.955G>T c.12563G>T (p.Arg4188Leu) c.12548G>T (p.Arg4183Leu) c.12545G>T (p.Arg4182Leu) c.5932G>T c.12530G>T (p.Arg4177Leu) c.12560G>T (p.Arg4187Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561394C>A | CA507355364 | RYR1 | c.974C>A c.956C>A c.12564C>A (p.Arg4188=) c.12549C>A (p.Arg4183=) c.12546C>A (p.Arg4182=) c.5933C>A c.12531C>A (p.Arg4177=) c.12561C>A (p.Arg4187=) | |
| 19 | g.38561394C>G | CA507355365 | RYR1 | c.974C>G c.956C>G c.12564C>G (p.Arg4188=) c.12549C>G (p.Arg4183=) c.12546C>G (p.Arg4182=) c.5933C>G c.12531C>G (p.Arg4177=) c.12561C>G (p.Arg4187=) | |
| 19 | g.38561394C>T | CA507355366 | RYR1 | c.974C>T c.956C>T c.12564C>T (p.Arg4188=) c.12549C>T (p.Arg4183=) c.12546C>T (p.Arg4182=) c.5933C>T c.12531C>T (p.Arg4177=) c.12561C>T (p.Arg4187=) | |
| 19 | g.38561395A= | CA2335082657 | RYR1 | c.975A= c.957A= c.12565A= (p.Ile4189=) c.12550A= (p.Ile4184=) c.12547A= (p.Ile4183=) c.5934A= c.12532A= (p.Ile4178=) c.12562A= (p.Ile4188=) | |
| 19 | g.38561395A>C | CA405669694 | RYR1 | c.975A>C c.957A>C c.12565A>C (p.Ile4189Leu) c.12550A>C (p.Ile4184Leu) c.12547A>C (p.Ile4183Leu) c.5934A>C c.12532A>C (p.Ile4178Leu) c.12562A>C (p.Ile4188Leu) | |
| 19 | g.38561395A>G | CA059111 | RYR1 | c.975A>G c.957A>G c.12565A>G (p.Ile4189Val) c.12550A>G (p.Ile4184Val) c.12547A>G (p.Ile4183Val) c.5934A>G c.12532A>G (p.Ile4178Val) c.12562A>G (p.Ile4188Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561395A>T | CA405669698 | RYR1 | c.975A>T c.957A>T c.12565A>T (p.Ile4189Phe) c.12550A>T (p.Ile4184Phe) c.12547A>T (p.Ile4183Phe) c.5934A>T c.12532A>T (p.Ile4178Phe) c.12562A>T (p.Ile4188Phe) | |
| 19 | g.38561396T>A | CA405669699 | RYR1 | c.976T>A c.958T>A c.12566T>A (p.Ile4189Asn) c.12551T>A (p.Ile4184Asn) c.12548T>A (p.Ile4183Asn) c.5935T>A c.12533T>A (p.Ile4178Asn) c.12563T>A (p.Ile4188Asn) | |
| 19 | g.38561396T>C | CA405669700 | RYR1 | c.976T>C c.958T>C c.12566T>C (p.Ile4189Thr) c.12551T>C (p.Ile4184Thr) c.12548T>C (p.Ile4183Thr) c.5935T>C c.12533T>C (p.Ile4178Thr) c.12563T>C (p.Ile4188Thr) | dbSNP |
| 19 | g.38561396T>G | CA405669701 | RYR1 | c.976T>G c.958T>G c.12566T>G (p.Ile4189Ser) c.12551T>G (p.Ile4184Ser) c.12548T>G (p.Ile4183Ser) c.5935T>G c.12533T>G (p.Ile4178Ser) c.12563T>G (p.Ile4188Ser) | |
| 19 | g.38561396T= | CA2335082658 | RYR1 | c.976T= c.958T= c.12566T= (p.Ile4189=) c.12551T= (p.Ile4184=) c.12548T= (p.Ile4183=) c.5935T= c.12533T= (p.Ile4178=) c.12563T= (p.Ile4188=) | |
| 19 | g.38561396_38561397delinsTC | CA2335082659 | RYR1 | c.976_977delinsTC c.958_959delinsTC c.12566_12567delinsTC (p.Ile4189=) c.12551_12552delinsTC (p.Ile4184=) c.12548_12549delinsTC (p.Ile4183=) c.5935_5936delinsTC c.12533_12534delinsTC (p.Ile4178=) c.12563_12564delinsTC (p.Ile4188=) | |
| 19 | g.38561397del | CA1139666437 | RYR1 | c.977del c.959del c.12567del (p.Ile4189MetfsTer21) c.12552del (p.Ile4184MetfsTer21) c.12549del (p.Ile4183MetfsTer21) c.5936del c.12534del (p.Ile4178MetfsTer21) c.12564del (p.Ile4188MetfsTer21) | ClinVar dbSNP |
| 19 | g.38561397C>A | CA507355368 | RYR1 | c.977C>A c.959C>A c.12567C>A (p.Ile4189=) c.12552C>A (p.Ile4184=) c.12549C>A (p.Ile4183=) c.5936C>A c.12534C>A (p.Ile4178=) c.12564C>A (p.Ile4188=) | |
| 19 | g.38561397C= | CA2335082660 | RYR1 | c.977C= c.959C= c.12567C= (p.Ile4189=) c.12552C= (p.Ile4184=) c.12549C= (p.Ile4183=) c.5936C= c.12534C= (p.Ile4178=) c.12564C= (p.Ile4188=) | |
| 19 | g.38561397C>G | CA405669703 | RYR1 | c.977C>G c.959C>G c.12567C>G (p.Ile4189Met) c.12552C>G (p.Ile4184Met) c.12549C>G (p.Ile4183Met) c.5936C>G c.12534C>G (p.Ile4178Met) c.12564C>G (p.Ile4188Met) | gnomAD v4 |
| 19 | g.38561397C>T | CA507355371 | RYR1 | c.977C>T c.959C>T c.12567C>T (p.Ile4189=) c.12552C>T (p.Ile4184=) c.12549C>T (p.Ile4183=) c.5936C>T c.12534C>T (p.Ile4178=) c.12564C>T (p.Ile4188=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561398G>A | CA405669711 | RYR1 | c.978G>A c.960G>A c.12568G>A (p.Glu4190Lys) c.12553G>A (p.Glu4185Lys) c.12550G>A (p.Glu4184Lys) c.5937G>A c.12535G>A (p.Glu4179Lys) c.12565G>A (p.Glu4189Lys) | |
| 19 | g.38561398G>C | CA405669705 | RYR1 | c.978G>C c.960G>C c.12568G>C (p.Glu4190Gln) c.12553G>C (p.Glu4185Gln) c.12550G>C (p.Glu4184Gln) c.5937G>C c.12535G>C (p.Glu4179Gln) c.12565G>C (p.Glu4189Gln) | gnomAD v4 |
| 19 | g.38561398G>T | CA405669708 | RYR1 | c.978G>T c.960G>T c.12568G>T (p.Glu4190Ter) c.12553G>T (p.Glu4185Ter) c.12550G>T (p.Glu4184Ter) c.5937G>T c.12535G>T (p.Glu4179Ter) c.12565G>T (p.Glu4189Ter) | gnomAD v4 |
| 19 | g.38561399A= | CA2335082661 | RYR1 | c.979A= c.961A= c.12569A= (p.Glu4190=) c.12554A= (p.Glu4185=) c.12551A= (p.Glu4184=) c.5938A= c.12536A= (p.Glu4179=) c.12566A= (p.Glu4189=) | |
| 19 | g.38561399A>C | CA405669718 | RYR1 | c.979A>C c.961A>C c.12569A>C (p.Glu4190Ala) c.12554A>C (p.Glu4185Ala) c.12551A>C (p.Glu4184Ala) c.5938A>C c.12536A>C (p.Glu4179Ala) c.12566A>C (p.Glu4189Ala) | |
| 19 | g.38561399A>G | CA405669719 | RYR1 | c.979A>G c.961A>G c.12569A>G (p.Glu4190Gly) c.12554A>G (p.Glu4185Gly) c.12551A>G (p.Glu4184Gly) c.5938A>G c.12536A>G (p.Glu4179Gly) c.12566A>G (p.Glu4189Gly) | dbSNP gnomAD v2 |
| 19 | g.38561399A>T | CA405669720 | RYR1 | c.979A>T c.961A>T c.12569A>T (p.Glu4190Val) c.12554A>T (p.Glu4185Val) c.12551A>T (p.Glu4184Val) c.5938A>T c.12536A>T (p.Glu4179Val) c.12566A>T (p.Glu4189Val) | |
| 19 | g.38561400G>A | CA507355373 | RYR1 | c.980G>A c.962G>A c.12570G>A (p.Glu4190=) c.12555G>A (p.Glu4185=) c.12552G>A (p.Glu4184=) c.5939G>A c.12537G>A (p.Glu4179=) c.12567G>A (p.Glu4189=) | dbSNP gnomAD v4 |
| 19 | g.38561400G>C | CA405669721 | RYR1 | c.980G>C c.962G>C c.12570G>C (p.Glu4190Asp) c.12555G>C (p.Glu4185Asp) c.12552G>C (p.Glu4184Asp) c.5939G>C c.12537G>C (p.Glu4179Asp) c.12567G>C (p.Glu4189Asp) | dbSNP |
| 19 | g.38561400G= | CA2335082662 | RYR1 | c.980G= c.962G= c.12570G= (p.Glu4190=) c.12555G= (p.Glu4185=) c.12552G= (p.Glu4184=) c.5939G= c.12537G= (p.Glu4179=) c.12567G= (p.Glu4189=) | |
| 19 | g.38561400G>T | CA405669722 | RYR1 | c.980G>T c.962G>T c.12570G>T (p.Glu4190Asp) c.12555G>T (p.Glu4185Asp) c.12552G>T (p.Glu4184Asp) c.5939G>T c.12537G>T (p.Glu4179Asp) c.12567G>T (p.Glu4189Asp) | gnomAD v4 |
| 19 | g.38561401C>A | CA405669724 | RYR1 | c.981C>A c.963C>A c.12571C>A (p.Arg4191Ser) c.12556C>A (p.Arg4186Ser) c.12553C>A (p.Arg4185Ser) c.5940C>A c.12538C>A (p.Arg4180Ser) c.12568C>A (p.Arg4190Ser) | ClinVar |
| 19 | g.38561401C>G | CA405669726 | RYR1 | c.981C>G c.963C>G c.12571C>G (p.Arg4191Gly) c.12556C>G (p.Arg4186Gly) c.12553C>G (p.Arg4185Gly) c.5940C>G c.12538C>G (p.Arg4180Gly) c.12568C>G (p.Arg4190Gly) | |
| 19 | g.38561401C>T | CA405669731 | RYR1 | c.981C>T c.963C>T c.12571C>T (p.Arg4191Cys) c.12556C>T (p.Arg4186Cys) c.12553C>T (p.Arg4185Cys) c.5940C>T c.12538C>T (p.Arg4180Cys) c.12568C>T (p.Arg4190Cys) | gnomAD v4 COSMIC |
| 19 | g.38561402G>A | CA059112 | RYR1 | c.982G>A c.964G>A c.12572G>A (p.Arg4191His) c.12557G>A (p.Arg4186His) c.12554G>A (p.Arg4185His) c.5941G>A c.12539G>A (p.Arg4180His) c.12569G>A (p.Arg4190His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.38561402G>C | CA405669732 | RYR1 | c.982G>C c.964G>C c.12572G>C (p.Arg4191Pro) c.12557G>C (p.Arg4186Pro) c.12554G>C (p.Arg4185Pro) c.5941G>C c.12539G>C (p.Arg4180Pro) c.12569G>C (p.Arg4190Pro) | ClinVar dbSNP |
| 19 | g.38561402G= | CA2335082663 | RYR1 | c.982G= c.964G= c.12572G= (p.Arg4191=) c.12557G= (p.Arg4186=) c.12554G= (p.Arg4185=) c.5941G= c.12539G= (p.Arg4180=) c.12569G= (p.Arg4190=) | |
| 19 | g.38561402G>T | CA405669733 | RYR1 | c.982G>T c.964G>T c.12572G>T (p.Arg4191Leu) c.12557G>T (p.Arg4186Leu) c.12554G>T (p.Arg4185Leu) c.5941G>T c.12539G>T (p.Arg4180Leu) c.12569G>T (p.Arg4190Leu) | gnomAD v4 |
| 19 | g.38561403C>A | CA507355378 | RYR1 | c.983C>A c.965C>A c.12573C>A (p.Arg4191=) c.12558C>A (p.Arg4186=) c.12555C>A (p.Arg4185=) c.5942C>A c.12540C>A (p.Arg4180=) c.12570C>A (p.Arg4190=) | |
| 19 | g.38561403C= | CA2335082664 | RYR1 | c.983C= c.965C= c.12573C= (p.Arg4191=) c.12558C= (p.Arg4186=) c.12555C= (p.Arg4185=) c.5942C= c.12540C= (p.Arg4180=) c.12570C= (p.Arg4190=) | |
| 19 | g.38561403C>G | CA507355379 | RYR1 | c.983C>G c.965C>G c.12573C>G (p.Arg4191=) c.12558C>G (p.Arg4186=) c.12555C>G (p.Arg4185=) c.5942C>G c.12540C>G (p.Arg4180=) c.12570C>G (p.Arg4190=) | |
| 19 | g.38561403C>T | CA507355380 | RYR1 | c.983C>T c.965C>T c.12573C>T (p.Arg4191=) c.12558C>T (p.Arg4186=) c.12555C>T (p.Arg4185=) c.5942C>T c.12540C>T (p.Arg4180=) c.12570C>T (p.Arg4190=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561404A>C | CA405669740 | RYR1 | c.984A>C c.966A>C c.12574A>C (p.Ile4192Leu) c.12559A>C (p.Ile4187Leu) c.12556A>C (p.Ile4186Leu) c.5943A>C c.12541A>C (p.Ile4181Leu) c.12571A>C (p.Ile4191Leu) | |
| 19 | g.38561404A>G | CA405669738 | RYR1 | c.984A>G c.966A>G c.12574A>G (p.Ile4192Val) c.12559A>G (p.Ile4187Val) c.12556A>G (p.Ile4186Val) c.5943A>G c.12541A>G (p.Ile4181Val) c.12571A>G (p.Ile4191Val) | |
| 19 | g.38561404A>T | CA405669736 | RYR1 | c.984A>T c.966A>T c.12574A>T (p.Ile4192Phe) c.12559A>T (p.Ile4187Phe) c.12556A>T (p.Ile4186Phe) c.5943A>T c.12541A>T (p.Ile4181Phe) c.12571A>T (p.Ile4191Phe) | |
| 19 | g.38561405T>A | CA405669742 | RYR1 | c.985T>A c.967T>A c.12575T>A (p.Ile4192Asn) c.12560T>A (p.Ile4187Asn) c.12557T>A (p.Ile4186Asn) c.5944T>A c.12542T>A (p.Ile4181Asn) c.12572T>A (p.Ile4191Asn) | |
| 19 | g.38561405T>C | CA405669745 | RYR1 | c.985T>C c.967T>C c.12575T>C (p.Ile4192Thr) c.12560T>C (p.Ile4187Thr) c.12557T>C (p.Ile4186Thr) c.5944T>C c.12542T>C (p.Ile4181Thr) c.12572T>C (p.Ile4191Thr) | ClinVar dbSNP |
| 19 | g.38561405T>G | CA405669743 | RYR1 | c.985T>G c.967T>G c.12575T>G (p.Ile4192Ser) c.12560T>G (p.Ile4187Ser) c.12557T>G (p.Ile4186Ser) c.5944T>G c.12542T>G (p.Ile4181Ser) c.12572T>G (p.Ile4191Ser) | gnomAD v4 |
| 19 | g.38561405T= | CA2335082665 | RYR1 | c.985T= c.967T= c.12575T= (p.Ile4192=) c.12560T= (p.Ile4187=) c.12557T= (p.Ile4186=) c.5944T= c.12542T= (p.Ile4181=) c.12572T= (p.Ile4191=) | |
| 19 | g.38561406C>A | CA507355382 | RYR1 | c.986C>A c.968C>A c.12576C>A (p.Ile4192=) c.12561C>A (p.Ile4187=) c.12558C>A (p.Ile4186=) c.5945C>A c.12543C>A (p.Ile4181=) c.12573C>A (p.Ile4191=) | |
| 19 | g.38561406C>G | CA405669747 | RYR1 | c.986C>G c.968C>G c.12576C>G (p.Ile4192Met) c.12561C>G (p.Ile4187Met) c.12558C>G (p.Ile4186Met) c.5945C>G c.12543C>G (p.Ile4181Met) c.12573C>G (p.Ile4191Met) | |
| 19 | g.38561406C>T | CA507355381 | RYR1 | c.986C>T c.968C>T c.12576C>T (p.Ile4192=) c.12561C>T (p.Ile4187=) c.12558C>T (p.Ile4186=) c.5945C>T c.12543C>T (p.Ile4181=) c.12573C>T (p.Ile4191=) | |
| 19 | g.38561407T>A | CA405669749 | RYR1 | c.987T>A c.969T>A c.12577T>A (p.Tyr4193Asn) c.12562T>A (p.Tyr4188Asn) c.12559T>A (p.Tyr4187Asn) c.5946T>A c.12544T>A (p.Tyr4182Asn) c.12574T>A (p.Tyr4192Asn) | |
| 19 | g.38561407T>C | CA405669751 | RYR1 | c.987T>C c.969T>C c.12577T>C (p.Tyr4193His) c.12562T>C (p.Tyr4188His) c.12559T>C (p.Tyr4187His) c.5946T>C c.12544T>C (p.Tyr4182His) c.12574T>C (p.Tyr4192His) | |
| 19 | g.38561407T>G | CA405669753 | RYR1 | c.987T>G c.969T>G c.12577T>G (p.Tyr4193Asp) c.12562T>G (p.Tyr4188Asp) c.12559T>G (p.Tyr4187Asp) c.5946T>G c.12544T>G (p.Tyr4182Asp) c.12574T>G (p.Tyr4192Asp) | gnomAD v4 |
| 19 | g.38561408A= | CA2335082666 | RYR1 | c.988A= c.970A= c.12578A= (p.Tyr4193=) c.12563A= (p.Tyr4188=) c.12560A= (p.Tyr4187=) c.5947A= c.12545A= (p.Tyr4182=) c.12575A= (p.Tyr4192=) | |
| 19 | g.38561408A>C | CA405669755 | RYR1 | c.988A>C c.970A>C c.12578A>C (p.Tyr4193Ser) c.12563A>C (p.Tyr4188Ser) c.12560A>C (p.Tyr4187Ser) c.5947A>C c.12545A>C (p.Tyr4182Ser) c.12575A>C (p.Tyr4192Ser) | |
| 19 | g.38561408A>G | CA405669756 | RYR1 | c.988A>G c.970A>G c.12578A>G (p.Tyr4193Cys) c.12563A>G (p.Tyr4188Cys) c.12560A>G (p.Tyr4187Cys) c.5947A>G c.12545A>G (p.Tyr4182Cys) c.12575A>G (p.Tyr4192Cys) | gnomAD v4 |
| 19 | g.38561408A>T | CA405669757 | RYR1 | c.988A>T c.970A>T c.12578A>T (p.Tyr4193Phe) c.12563A>T (p.Tyr4188Phe) c.12560A>T (p.Tyr4187Phe) c.5947A>T c.12545A>T (p.Tyr4182Phe) c.12575A>T (p.Tyr4192Phe) | ClinVar dbSNP |
| 19 | g.38561409C>A | CA405669758 | RYR1 | c.989C>A c.971C>A c.12579C>A (p.Tyr4193Ter) c.12564C>A (p.Tyr4188Ter) c.12561C>A (p.Tyr4187Ter) c.5948C>A c.12546C>A (p.Tyr4182Ter) c.12576C>A (p.Tyr4192Ter) | |
| 19 | g.38561409C= | CA2335082667 | RYR1 | c.989C= c.971C= c.12579C= (p.Tyr4193=) c.12564C= (p.Tyr4188=) c.12561C= (p.Tyr4187=) c.5948C= c.12546C= (p.Tyr4182=) c.12576C= (p.Tyr4192=) | |
| 19 | g.38561409C>G | CA405669759 | RYR1 | c.989C>G c.971C>G c.12579C>G (p.Tyr4193Ter) c.12564C>G (p.Tyr4188Ter) c.12561C>G (p.Tyr4187Ter) c.5948C>G c.12546C>G (p.Tyr4182Ter) c.12576C>G (p.Tyr4192Ter) | |
| 19 | g.38561409C>T | CA507355386 | RYR1 | c.989C>T c.971C>T c.12579C>T (p.Tyr4193=) c.12564C>T (p.Tyr4188=) c.12561C>T (p.Tyr4187=) c.5948C>T c.12546C>T (p.Tyr4182=) c.12576C>T (p.Tyr4192=) | ClinVar dbSNP |
| 19 | g.38561410T>A | CA405669760 | RYR1 | c.990T>A c.972T>A c.12580T>A (p.Phe4194Ile) c.12565T>A (p.Phe4189Ile) c.12562T>A (p.Phe4188Ile) c.5949T>A c.12547T>A (p.Phe4183Ile) c.12577T>A (p.Phe4193Ile) | |
| 19 | g.38561410T>C | CA405669761 | RYR1 | c.990T>C c.972T>C c.12580T>C (p.Phe4194Leu) c.12565T>C (p.Phe4189Leu) c.12562T>C (p.Phe4188Leu) c.5949T>C c.12547T>C (p.Phe4183Leu) c.12577T>C (p.Phe4193Leu) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561410T>G | CA405669762 | RYR1 | c.990T>G c.972T>G c.12580T>G (p.Phe4194Val) c.12565T>G (p.Phe4189Val) c.12562T>G (p.Phe4188Val) c.5949T>G c.12547T>G (p.Phe4183Val) c.12577T>G (p.Phe4193Val) | |
| 19 | g.38561410T= | CA2335082668 | RYR1 | c.990T= c.972T= c.12580T= (p.Phe4194=) c.12565T= (p.Phe4189=) c.12562T= (p.Phe4188=) c.5949T= c.12547T= (p.Phe4183=) c.12577T= (p.Phe4193=) | |
| 19 | g.38561411T>A | CA405669766 | RYR1 | c.991T>A c.973T>A c.12581T>A (p.Phe4194Tyr) c.12566T>A (p.Phe4189Tyr) c.12563T>A (p.Phe4188Tyr) c.5950T>A c.12548T>A (p.Phe4183Tyr) c.12578T>A (p.Phe4193Tyr) | |
| 19 | g.38561411T>C | CA405669763 | RYR1 | c.991T>C c.973T>C c.12581T>C (p.Phe4194Ser) c.12566T>C (p.Phe4189Ser) c.12563T>C (p.Phe4188Ser) c.5950T>C c.12548T>C (p.Phe4183Ser) c.12578T>C (p.Phe4193Ser) | |
| 19 | g.38561411T>G | CA405669765 | RYR1 | c.991T>G c.973T>G c.12581T>G (p.Phe4194Cys) c.12566T>G (p.Phe4189Cys) c.12563T>G (p.Phe4188Cys) c.5950T>G c.12548T>G (p.Phe4183Cys) c.12578T>G (p.Phe4193Cys) | |
| 19 | g.38561412C>A | CA405669768 | RYR1 | c.992C>A c.974C>A c.12582C>A (p.Phe4194Leu) c.12567C>A (p.Phe4189Leu) c.12564C>A (p.Phe4188Leu) c.5951C>A c.12549C>A (p.Phe4183Leu) c.12579C>A (p.Phe4193Leu) | |
| 19 | g.38561412C= | CA2335082669 | RYR1 | c.992C= c.974C= c.12582C= (p.Phe4194=) c.12567C= (p.Phe4189=) c.12564C= (p.Phe4188=) c.5951C= c.12549C= (p.Phe4183=) c.12579C= (p.Phe4193=) | |
| 19 | g.38561412C>G | CA059121 | RYR1 | c.992C>G c.974C>G c.12582C>G (p.Phe4194Leu) c.12567C>G (p.Phe4189Leu) c.12564C>G (p.Phe4188Leu) c.5951C>G c.12549C>G (p.Phe4183Leu) c.12579C>G (p.Phe4193Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38561412C>T | CA059124 | RYR1 | c.992C>T c.974C>T c.12582C>T (p.Phe4194=) c.12567C>T (p.Phe4189=) c.12564C>T (p.Phe4188=) c.5951C>T c.12549C>T (p.Phe4183=) c.12579C>T (p.Phe4193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38561413G>A | CA059133 | RYR1 | c.993G>A c.975G>A c.12583G>A (p.Glu4195Lys) c.12568G>A (p.Glu4190Lys) c.12565G>A (p.Glu4189Lys) c.5952G>A c.12550G>A (p.Glu4184Lys) c.12580G>A (p.Glu4194Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38561413G>C | CA405669773 | RYR1 | c.993G>C c.975G>C c.12583G>C (p.Glu4195Gln) c.12568G>C (p.Glu4190Gln) c.12565G>C (p.Glu4189Gln) c.5952G>C c.12550G>C (p.Glu4184Gln) c.12580G>C (p.Glu4194Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561413G= | CA2335082670 | RYR1 | c.993G= c.975G= c.12583G= (p.Glu4195=) c.12568G= (p.Glu4190=) c.12565G= (p.Glu4189=) c.5952G= c.12550G= (p.Glu4184=) c.12580G= (p.Glu4194=) | |
| 19 | g.38561413G>T | CA405669775 | RYR1 | c.993G>T c.975G>T c.12583G>T (p.Glu4195Ter) c.12568G>T (p.Glu4190Ter) c.12565G>T (p.Glu4189Ter) c.5952G>T c.12550G>T (p.Glu4184Ter) c.12580G>T (p.Glu4194Ter) | |
| 19 | g.38561414A>C | CA405669777 | RYR1 | c.994A>C c.976A>C c.12584A>C (p.Glu4195Ala) c.12569A>C (p.Glu4190Ala) c.12566A>C (p.Glu4189Ala) c.5953A>C c.12551A>C (p.Glu4184Ala) c.12581A>C (p.Glu4194Ala) | |
| 19 | g.38561414A>G | CA405669778 | RYR1 | c.994A>G c.976A>G c.12584A>G (p.Glu4195Gly) c.12569A>G (p.Glu4190Gly) c.12566A>G (p.Glu4189Gly) c.5953A>G c.12551A>G (p.Glu4184Gly) c.12581A>G (p.Glu4194Gly) | |
| 19 | g.38561414A>T | CA405669779 | RYR1 | c.994A>T c.976A>T c.12584A>T (p.Glu4195Val) c.12569A>T (p.Glu4190Val) c.12566A>T (p.Glu4189Val) c.5953A>T c.12551A>T (p.Glu4184Val) c.12581A>T (p.Glu4194Val) | gnomAD v4 |
| 19 | g.38561415G>A | CA507355391 | RYR1 | c.995G>A c.977G>A c.12585G>A (p.Glu4195=) c.12570G>A (p.Glu4190=) c.12567G>A (p.Glu4189=) c.5954G>A c.12552G>A (p.Glu4184=) c.12582G>A (p.Glu4194=) | ClinVar |
| 19 | g.38561415G>C | CA405669780 | RYR1 | c.995G>C c.977G>C c.12585G>C (p.Glu4195Asp) c.12570G>C (p.Glu4190Asp) c.12567G>C (p.Glu4189Asp) c.5954G>C c.12552G>C (p.Glu4184Asp) c.12582G>C (p.Glu4194Asp) | |
| 19 | g.38561415G= | CA2335082671 | RYR1 | c.995G= c.977G= c.12585G= (p.Glu4195=) c.12570G= (p.Glu4190=) c.12567G= (p.Glu4189=) c.5954G= c.12552G= (p.Glu4184=) c.12582G= (p.Glu4194=) | |
| 19 | g.38561415G>T | CA308105957 | RYR1 | c.995G>T c.977G>T c.12585G>T (p.Glu4195Asp) c.12570G>T (p.Glu4190Asp) c.12567G>T (p.Glu4189Asp) c.5954G>T c.12552G>T (p.Glu4184Asp) c.12582G>T (p.Glu4194Asp) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561416A>C | CA405669786 | RYR1 | c.996A>C c.978A>C c.12586A>C (p.Ile4196Leu) c.12571A>C (p.Ile4191Leu) c.12568A>C (p.Ile4190Leu) c.5955A>C c.12553A>C (p.Ile4185Leu) c.12583A>C (p.Ile4195Leu) | |
| 19 | g.38561416A>G | CA405669784 | RYR1 | c.996A>G c.978A>G c.12586A>G (p.Ile4196Val) c.12571A>G (p.Ile4191Val) c.12568A>G (p.Ile4190Val) c.5955A>G c.12553A>G (p.Ile4185Val) c.12583A>G (p.Ile4195Val) | |
| 19 | g.38561416A>T | CA405669782 | RYR1 | c.996A>T c.978A>T c.12586A>T (p.Ile4196Phe) c.12571A>T (p.Ile4191Phe) c.12568A>T (p.Ile4190Phe) c.5955A>T c.12553A>T (p.Ile4185Phe) c.12583A>T (p.Ile4195Phe) | |
| 19 | g.38561417T>A | CA405669792 | RYR1 | c.997T>A c.979T>A c.12587T>A (p.Ile4196Asn) c.12572T>A (p.Ile4191Asn) c.12569T>A (p.Ile4190Asn) c.5956T>A c.12554T>A (p.Ile4185Asn) c.12584T>A (p.Ile4195Asn) | |
| 19 | g.38561417T>C | CA405669787 | RYR1 | c.997T>C c.979T>C c.12587T>C (p.Ile4196Thr) c.12572T>C (p.Ile4191Thr) c.12569T>C (p.Ile4190Thr) c.5956T>C c.12554T>C (p.Ile4185Thr) c.12584T>C (p.Ile4195Thr) | |
| 19 | g.38561417T>G | CA405669790 | RYR1 | c.997T>G c.979T>G c.12587T>G (p.Ile4196Ser) c.12572T>G (p.Ile4191Ser) c.12569T>G (p.Ile4190Ser) c.5956T>G c.12554T>G (p.Ile4185Ser) c.12584T>G (p.Ile4195Ser) | ClinVar |
| 19 | g.38561418C>A | CA507355395 | RYR1 | c.998C>A c.980C>A c.12588C>A (p.Ile4196=) c.12573C>A (p.Ile4191=) c.12570C>A (p.Ile4190=) c.5957C>A c.12555C>A (p.Ile4185=) c.12585C>A (p.Ile4195=) | |
| 19 | g.38561418C= | CA2335082672 | RYR1 | c.998C= c.980C= c.12588C= (p.Ile4196=) c.12573C= (p.Ile4191=) c.12570C= (p.Ile4190=) c.5957C= c.12555C= (p.Ile4185=) c.12585C= (p.Ile4195=) | |
| 19 | g.38561418C>G | CA405669795 | RYR1 | c.998C>G c.980C>G c.12588C>G (p.Ile4196Met) c.12573C>G (p.Ile4191Met) c.12570C>G (p.Ile4190Met) c.5957C>G c.12555C>G (p.Ile4185Met) c.12585C>G (p.Ile4195Met) | gnomAD v4 |
| 19 | g.38561418C>T | CA059141 | RYR1 | c.998C>T c.980C>T c.12588C>T (p.Ile4196=) c.12573C>T (p.Ile4191=) c.12570C>T (p.Ile4190=) c.5957C>T c.12555C>T (p.Ile4185=) c.12585C>T (p.Ile4195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561419T>A | CA405669796 | RYR1 | c.999T>A c.981T>A c.12589T>A (p.Ser4197Thr) c.12574T>A (p.Ser4192Thr) c.12571T>A (p.Ser4191Thr) c.5958T>A c.12556T>A (p.Ser4186Thr) c.12586T>A (p.Ser4196Thr) | |
| 19 | g.38561419T>C | CA405669797 | RYR1 | c.999T>C c.981T>C c.12589T>C (p.Ser4197Pro) c.12574T>C (p.Ser4192Pro) c.12571T>C (p.Ser4191Pro) c.5958T>C c.12556T>C (p.Ser4186Pro) c.12586T>C (p.Ser4196Pro) | |
| 19 | g.38561419T>G | CA405669798 | RYR1 | c.999T>G c.981T>G c.12589T>G (p.Ser4197Ala) c.12574T>G (p.Ser4192Ala) c.12571T>G (p.Ser4191Ala) c.5958T>G c.12556T>G (p.Ser4186Ala) c.12586T>G (p.Ser4196Ala) | |
| 19 | g.38561420C>A | CA405669799 | RYR1 | c.1000C>A c.982C>A c.12590C>A (p.Ser4197Ter) c.12575C>A (p.Ser4192Ter) c.12572C>A (p.Ser4191Ter) c.5959C>A c.12557C>A (p.Ser4186Ter) c.12587C>A (p.Ser4196Ter) | |
| 19 | g.38561420C>G | CA405669800 | RYR1 | c.1000C>G c.982C>G c.12590C>G (p.Ser4197Ter) c.12575C>G (p.Ser4192Ter) c.12572C>G (p.Ser4191Ter) c.5959C>G c.12557C>G (p.Ser4186Ter) c.12587C>G (p.Ser4196Ter) | gnomAD v4 |
| 19 | g.38561420C>T | CA405669802 | RYR1 | c.1000C>T c.982C>T c.12590C>T (p.Ser4197Leu) c.12575C>T (p.Ser4192Leu) c.12572C>T (p.Ser4191Leu) c.5959C>T c.12557C>T (p.Ser4186Leu) c.12587C>T (p.Ser4196Leu) | gnomAD v4 |
| 19 | g.38561420_38561421del | CA2582342955 | RYR1 | c.1000_1001del c.982_983del c.12590_12591del (p.Ser4197Ter) c.12575_12576del (p.Ser4192Ter) c.12572_12573del (p.Ser4191Ter) c.5959_5960del c.12557_12558del (p.Ser4186Ter) c.12587_12588del (p.Ser4196Ter) | ClinVar |
| 19 | g.38561421A>C | CA507355399 | RYR1 | c.1001A>C c.983A>C c.12591A>C (p.Ser4197=) c.12576A>C (p.Ser4192=) c.12573A>C (p.Ser4191=) c.5960A>C c.12558A>C (p.Ser4186=) c.12588A>C (p.Ser4196=) | |
| 19 | g.38561421A>G | CA507355400 | RYR1 | c.1001A>G c.983A>G c.12591A>G (p.Ser4197=) c.12576A>G (p.Ser4192=) c.12573A>G (p.Ser4191=) c.5960A>G c.12558A>G (p.Ser4186=) c.12588A>G (p.Ser4196=) | ClinVar gnomAD v4 |
| 19 | g.38561421A>T | CA507355401 | RYR1 | c.1001A>T c.983A>T c.12591A>T (p.Ser4197=) c.12576A>T (p.Ser4192=) c.12573A>T (p.Ser4191=) c.5960A>T c.12558A>T (p.Ser4186=) c.12588A>T (p.Ser4196=) | |
| 19 | g.38561422G>A | CA405669804 | RYR1 | c.1002G>A c.984G>A c.12592G>A (p.Glu4198Lys) c.12577G>A (p.Glu4193Lys) c.12574G>A (p.Glu4192Lys) c.5961G>A c.12559G>A (p.Glu4187Lys) c.12589G>A (p.Glu4197Lys) | |
| 19 | g.38561422G>C | CA405669808 | RYR1 | c.1002G>C c.984G>C c.12592G>C (p.Glu4198Gln) c.12577G>C (p.Glu4193Gln) c.12574G>C (p.Glu4192Gln) c.5961G>C c.12559G>C (p.Glu4187Gln) c.12589G>C (p.Glu4197Gln) | |
| 19 | g.38561422G>T | CA405669810 | RYR1 | c.1002G>T c.984G>T c.12592G>T (p.Glu4198Ter) c.12577G>T (p.Glu4193Ter) c.12574G>T (p.Glu4192Ter) c.5961G>T c.12559G>T (p.Glu4187Ter) c.12589G>T (p.Glu4197Ter) | |
| 19 | g.38561423A>C | CA405669821 | RYR1 | c.1003A>C c.985A>C c.12593A>C (p.Glu4198Ala) c.12578A>C (p.Glu4193Ala) c.12575A>C (p.Glu4192Ala) c.5962A>C c.12560A>C (p.Glu4187Ala) c.12590A>C (p.Glu4197Ala) | |
| 19 | g.38561423A>G | CA405669814 | RYR1 | c.1003A>G c.985A>G c.12593A>G (p.Glu4198Gly) c.12578A>G (p.Glu4193Gly) c.12575A>G (p.Glu4192Gly) c.5962A>G c.12560A>G (p.Glu4187Gly) c.12590A>G (p.Glu4197Gly) | |
| 19 | g.38561423A>T | CA405669818 | RYR1 | c.1003A>T c.985A>T c.12593A>T (p.Glu4198Val) c.12578A>T (p.Glu4193Val) c.12575A>T (p.Glu4192Val) c.5962A>T c.12560A>T (p.Glu4187Val) c.12590A>T (p.Glu4197Val) | COSMIC |
| 19 | g.38561424G>A | CA507355403 | RYR1 | c.1004G>A c.986G>A c.12594G>A (p.Glu4198=) c.12579G>A (p.Glu4193=) c.12576G>A (p.Glu4192=) c.5963G>A c.12561G>A (p.Glu4187=) c.12591G>A (p.Glu4197=) | gnomAD v4 |
| 19 | g.38561424G>C | CA405669826 | RYR1 | c.1004G>C c.986G>C c.12594G>C (p.Glu4198Asp) c.12579G>C (p.Glu4193Asp) c.12576G>C (p.Glu4192Asp) c.5963G>C c.12561G>C (p.Glu4187Asp) c.12591G>C (p.Glu4197Asp) | |
| 19 | g.38561424G>T | CA405669828 | RYR1 | c.1004G>T c.986G>T c.12594G>T (p.Glu4198Asp) c.12579G>T (p.Glu4193Asp) c.12576G>T (p.Glu4192Asp) c.5963G>T c.12561G>T (p.Glu4187Asp) c.12591G>T (p.Glu4197Asp) | gnomAD v4 |
| 19 | g.38561425A>C | CA405669835 | RYR1 | c.1005A>C c.987A>C c.12595A>C (p.Thr4199Pro) c.12580A>C (p.Thr4194Pro) c.12577A>C (p.Thr4193Pro) c.5964A>C c.12562A>C (p.Thr4188Pro) c.12592A>C (p.Thr4198Pro) | |
| 19 | g.38561425A>G | CA405669838 | RYR1 | c.1005A>G c.987A>G c.12595A>G (p.Thr4199Ala) c.12580A>G (p.Thr4194Ala) c.12577A>G (p.Thr4193Ala) c.5964A>G c.12562A>G (p.Thr4188Ala) c.12592A>G (p.Thr4198Ala) | |
| 19 | g.38561425A>T | CA405669840 | RYR1 | c.1005A>T c.987A>T c.12595A>T (p.Thr4199Ser) c.12580A>T (p.Thr4194Ser) c.12577A>T (p.Thr4193Ser) c.5964A>T c.12562A>T (p.Thr4188Ser) c.12592A>T (p.Thr4198Ser) | |
| 19 | g.38561426C>A | CA405669843 | RYR1 | c.1006C>A c.988C>A c.12596C>A (p.Thr4199Asn) c.12581C>A (p.Thr4194Asn) c.12578C>A (p.Thr4193Asn) c.5965C>A c.12563C>A (p.Thr4188Asn) c.12593C>A (p.Thr4198Asn) | |
| 19 | g.38561426C>G | CA405669844 | RYR1 | c.1006C>G c.988C>G c.12596C>G (p.Thr4199Ser) c.12581C>G (p.Thr4194Ser) c.12578C>G (p.Thr4193Ser) c.5965C>G c.12563C>G (p.Thr4188Ser) c.12593C>G (p.Thr4198Ser) | |
| 19 | g.38561426C>T | CA405669845 | RYR1 | c.1006C>T c.988C>T c.12596C>T (p.Thr4199Ile) c.12581C>T (p.Thr4194Ile) c.12578C>T (p.Thr4193Ile) c.5965C>T c.12563C>T (p.Thr4188Ile) c.12593C>T (p.Thr4198Ile) | |
| 19 | g.38561427C>A | CA507355409 | RYR1 | c.1007C>A c.989C>A c.12597C>A (p.Thr4199=) c.12582C>A (p.Thr4194=) c.12579C>A (p.Thr4193=) c.5966C>A c.12564C>A (p.Thr4188=) c.12594C>A (p.Thr4198=) | gnomAD v4 |
| 19 | g.38561427C= | CA2335082673 | RYR1 | c.1007C= c.989C= c.12597C= (p.Thr4199=) c.12582C= (p.Thr4194=) c.12579C= (p.Thr4193=) c.5966C= c.12564C= (p.Thr4188=) c.12594C= (p.Thr4198=) | |
| 19 | g.38561427C>G | CA507355408 | RYR1 | c.1007C>G c.989C>G c.12597C>G (p.Thr4199=) c.12582C>G (p.Thr4194=) c.12579C>G (p.Thr4193=) c.5966C>G c.12564C>G (p.Thr4188=) c.12594C>G (p.Thr4198=) | |
| 19 | g.38561427C>T | CA308105982 | RYR1 | c.1007C>T c.989C>T c.12597C>T (p.Thr4199=) c.12582C>T (p.Thr4194=) c.12579C>T (p.Thr4193=) c.5966C>T c.12564C>T (p.Thr4188=) c.12594C>T (p.Thr4198=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561428A>C | CA405669847 | RYR1 | c.1008A>C c.990A>C c.12598A>C (p.Asn4200His) c.12583A>C (p.Asn4195His) c.12580A>C (p.Asn4194His) c.5967A>C c.12565A>C (p.Asn4189His) c.12595A>C (p.Asn4199His) | |
| 19 | g.38561428A>G | CA405669848 | RYR1 | c.1008A>G c.990A>G c.12598A>G (p.Asn4200Asp) c.12583A>G (p.Asn4195Asp) c.12580A>G (p.Asn4194Asp) c.5967A>G c.12565A>G (p.Asn4189Asp) c.12595A>G (p.Asn4199Asp) | gnomAD v4 |
| 19 | g.38561428A>T | CA405669849 | RYR1 | c.1008A>T c.990A>T c.12598A>T (p.Asn4200Tyr) c.12583A>T (p.Asn4195Tyr) c.12580A>T (p.Asn4194Tyr) c.5967A>T c.12565A>T (p.Asn4189Tyr) c.12595A>T (p.Asn4199Tyr) | |
| 19 | g.38561429del | CA2584908842 | RYR1 | c.1009del c.991del c.12599del (p.Asn4200ThrfsTer10) c.12584del (p.Asn4195ThrfsTer10) c.12581del (p.Asn4194ThrfsTer10) c.5968del c.12566del (p.Asn4189ThrfsTer10) c.12596del (p.Asn4199ThrfsTer10) | gnomAD v4 |
| 19 | g.38561429A= | CA2335082674 | RYR1 | c.1009A= c.991A= c.12599A= (p.Asn4200=) c.12584A= (p.Asn4195=) c.12581A= (p.Asn4194=) c.5968A= c.12566A= (p.Asn4189=) c.12596A= (p.Asn4199=) | |
| 19 | g.38561429A>C | CA405669853 | RYR1 | c.1009A>C c.991A>C c.12599A>C (p.Asn4200Thr) c.12584A>C (p.Asn4195Thr) c.12581A>C (p.Asn4194Thr) c.5968A>C c.12566A>C (p.Asn4189Thr) c.12596A>C (p.Asn4199Thr) | |
| 19 | g.38561429A>G | CA308106007 | RYR1 | c.1009A>G c.991A>G c.12599A>G (p.Asn4200Ser) c.12584A>G (p.Asn4195Ser) c.12581A>G (p.Asn4194Ser) c.5968A>G c.12566A>G (p.Asn4189Ser) c.12596A>G (p.Asn4199Ser) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561429A>T | CA308106008 | RYR1 | c.1009A>T c.991A>T c.12599A>T (p.Asn4200Ile) c.12584A>T (p.Asn4195Ile) c.12581A>T (p.Asn4194Ile) c.5968A>T c.12566A>T (p.Asn4189Ile) c.12596A>T (p.Asn4199Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38561430C>A | CA405669857 | RYR1 | c.1010C>A c.992C>A c.12600C>A (p.Asn4200Lys) c.12585C>A (p.Asn4195Lys) c.12582C>A (p.Asn4194Lys) c.5969C>A c.12567C>A (p.Asn4189Lys) c.12597C>A (p.Asn4199Lys) | |
| 19 | g.38561430C>G | CA405669859 | RYR1 | c.1010C>G c.992C>G c.12600C>G (p.Asn4200Lys) c.12585C>G (p.Asn4195Lys) c.12582C>G (p.Asn4194Lys) c.5969C>G c.12567C>G (p.Asn4189Lys) c.12597C>G (p.Asn4199Lys) | |
| 19 | g.38561430C>T | CA507355414 | RYR1 | c.1010C>T c.992C>T c.12600C>T (p.Asn4200=) c.12585C>T (p.Asn4195=) c.12582C>T (p.Asn4194=) c.5969C>T c.12567C>T (p.Asn4189=) c.12597C>T (p.Asn4199=) | gnomAD v4 |
| 19 | g.38561431C>A | CA405669862 | RYR1 | c.1011C>A c.993C>A c.12601C>A (p.Arg4201Ser) c.12586C>A (p.Arg4196Ser) c.12583C>A (p.Arg4195Ser) c.5970C>A c.12568C>A (p.Arg4190Ser) c.12598C>A (p.Arg4200Ser) | |
| 19 | g.38561431C= | CA2335082675 | RYR1 | c.1011C= c.993C= c.12601C= (p.Arg4201=) c.12586C= (p.Arg4196=) c.12583C= (p.Arg4195=) c.5970C= c.12568C= (p.Arg4190=) c.12598C= (p.Arg4200=) | |
| 19 | g.38561431C>G | CA405669866 | RYR1 | c.1011C>G c.993C>G c.12601C>G (p.Arg4201Gly) c.12586C>G (p.Arg4196Gly) c.12583C>G (p.Arg4195Gly) c.5970C>G c.12568C>G (p.Arg4190Gly) c.12598C>G (p.Arg4200Gly) | |
| 19 | g.38561431C>T | CA405669868 | RYR1 | c.1011C>T c.993C>T c.12601C>T (p.Arg4201Cys) c.12586C>T (p.Arg4196Cys) c.12583C>T (p.Arg4195Cys) c.5970C>T c.12568C>T (p.Arg4190Cys) c.12598C>T (p.Arg4200Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561432G>A | CA405669870 | RYR1 | c.1012G>A c.994G>A c.12602G>A (p.Arg4201His) c.12587G>A (p.Arg4196His) c.12584G>A (p.Arg4195His) c.5971G>A c.12569G>A (p.Arg4190His) c.12599G>A (p.Arg4200His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561432G>C | CA405669871 | RYR1 | c.1012G>C c.994G>C c.12602G>C (p.Arg4201Pro) c.12587G>C (p.Arg4196Pro) c.12584G>C (p.Arg4195Pro) c.5971G>C c.12569G>C (p.Arg4190Pro) c.12599G>C (p.Arg4200Pro) | |
| 19 | g.38561432G= | CA2335082676 | RYR1 | c.1012G= c.994G= c.12602G= (p.Arg4201=) c.12587G= (p.Arg4196=) c.12584G= (p.Arg4195=) c.5971G= c.12569G= (p.Arg4190=) c.12599G= (p.Arg4200=) | |
| 19 | g.38561432G>T | CA405669873 | RYR1 | c.1012G>T c.994G>T c.12602G>T (p.Arg4201Leu) c.12587G>T (p.Arg4196Leu) c.12584G>T (p.Arg4195Leu) c.5971G>T c.12569G>T (p.Arg4190Leu) c.12599G>T (p.Arg4200Leu) | gnomAD v4 |
| 19 | g.38561433C>A | CA507355416 | RYR1 | c.1013C>A c.995C>A c.12603C>A (p.Arg4201=) c.12588C>A (p.Arg4196=) c.12585C>A (p.Arg4195=) c.5972C>A c.12570C>A (p.Arg4190=) c.12600C>A (p.Arg4200=) | |
| 19 | g.38561433C= | CA2335082677 | RYR1 | c.1013C= c.995C= c.12603C= (p.Arg4201=) c.12588C= (p.Arg4196=) c.12585C= (p.Arg4195=) c.5972C= c.12570C= (p.Arg4190=) c.12600C= (p.Arg4200=) | |
| 19 | g.38561433C>G | CA507355417 | RYR1 | c.1013C>G c.995C>G c.12603C>G (p.Arg4201=) c.12588C>G (p.Arg4196=) c.12585C>G (p.Arg4195=) c.5972C>G c.12570C>G (p.Arg4190=) c.12600C>G (p.Arg4200=) | |
| 19 | g.38561433C>T | CA507355418 | RYR1 | c.1013C>T c.995C>T c.12603C>T (p.Arg4201=) c.12588C>T (p.Arg4196=) c.12585C>T (p.Arg4195=) c.5972C>T c.12570C>T (p.Arg4190=) c.12600C>T (p.Arg4200=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.38561434G>A | CA405669875 | RYR1 | c.1014G>A c.996G>A c.12604G>A (p.Ala4202Thr) c.12589G>A (p.Ala4197Thr) c.12586G>A (p.Ala4196Thr) c.5973G>A c.12571G>A (p.Ala4191Thr) c.12601G>A (p.Ala4201Thr) | gnomAD v4 |
| 19 | g.38561434G>C | CA405669878 | RYR1 | c.1014G>C c.996G>C c.12604G>C (p.Ala4202Pro) c.12589G>C (p.Ala4197Pro) c.12586G>C (p.Ala4196Pro) c.5973G>C c.12571G>C (p.Ala4191Pro) c.12601G>C (p.Ala4201Pro) | |
| 19 | g.38561434G>T | CA405669881 | RYR1 | c.1014G>T c.996G>T c.12604G>T (p.Ala4202Ser) c.12589G>T (p.Ala4197Ser) c.12586G>T (p.Ala4196Ser) c.5973G>T c.12571G>T (p.Ala4191Ser) c.12601G>T (p.Ala4201Ser) | gnomAD v4 |
| 19 | g.38561435C>A | CA405669882 | RYR1 | c.1015C>A c.997C>A c.12605C>A (p.Ala4202Asp) c.12590C>A (p.Ala4197Asp) c.12587C>A (p.Ala4196Asp) c.5974C>A c.12572C>A (p.Ala4191Asp) c.12602C>A (p.Ala4201Asp) | |
| 19 | g.38561435C= | CA2335082678 | RYR1 | c.1015C= c.997C= c.12605C= (p.Ala4202=) c.12590C= (p.Ala4197=) c.12587C= (p.Ala4196=) c.5974C= c.12572C= (p.Ala4191=) c.12602C= (p.Ala4201=) | |
| 19 | g.38561435C>G | CA405669883 | RYR1 | c.1015C>G c.997C>G c.12605C>G (p.Ala4202Gly) c.12590C>G (p.Ala4197Gly) c.12587C>G (p.Ala4196Gly) c.5974C>G c.12572C>G (p.Ala4191Gly) c.12602C>G (p.Ala4201Gly) | gnomAD v4 |
| 19 | g.38561435C>T | CA405669884 | RYR1 | c.1015C>T c.997C>T c.12605C>T (p.Ala4202Val) c.12590C>T (p.Ala4197Val) c.12587C>T (p.Ala4196Val) c.5974C>T c.12572C>T (p.Ala4191Val) c.12602C>T (p.Ala4201Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561437del | CA2584908843 | RYR1 | c.1017del c.999del c.12607del (p.Gln4203SerfsTer7) c.12592del (p.Gln4198SerfsTer7) c.12589del (p.Gln4197SerfsTer7) c.5976del c.12574del (p.Gln4192SerfsTer7) c.12604del (p.Gln4202SerfsTer7) | gnomAD v4 |
| 19 | g.38561436C>A | CA507355423 | RYR1 | c.1016C>A c.998C>A c.12606C>A (p.Ala4202=) c.12591C>A (p.Ala4197=) c.12588C>A (p.Ala4196=) c.5975C>A c.12573C>A (p.Ala4191=) c.12603C>A (p.Ala4201=) | gnomAD v4 COSMIC |
| 19 | g.38561436C= | CA2335082679 | RYR1 | c.1016C= c.998C= c.12606C= (p.Ala4202=) c.12591C= (p.Ala4197=) c.12588C= (p.Ala4196=) c.5975C= c.12573C= (p.Ala4191=) c.12603C= (p.Ala4201=) | |
| 19 | g.38561436C>G | CA507355424 | RYR1 | c.1016C>G c.998C>G c.12606C>G (p.Ala4202=) c.12591C>G (p.Ala4197=) c.12588C>G (p.Ala4196=) c.5975C>G c.12573C>G (p.Ala4191=) c.12603C>G (p.Ala4201=) | |
| 19 | g.38561436C>T | CA507355425 | RYR1 | c.1016C>T c.998C>T c.12606C>T (p.Ala4202=) c.12591C>T (p.Ala4197=) c.12588C>T (p.Ala4196=) c.5975C>T c.12573C>T (p.Ala4191=) c.12603C>T (p.Ala4201=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38561437C>A | CA405669888 | RYR1 | c.1017C>A c.999C>A c.12607C>A (p.Gln4203Lys) c.12592C>A (p.Gln4198Lys) c.12589C>A (p.Gln4197Lys) c.5976C>A c.12574C>A (p.Gln4192Lys) c.12604C>A (p.Gln4202Lys) | |
| 19 | g.38561437C>G | CA405669885 | RYR1 | c.1017C>G c.999C>G c.12607C>G (p.Gln4203Glu) c.12592C>G (p.Gln4198Glu) c.12589C>G (p.Gln4197Glu) c.5976C>G c.12574C>G (p.Gln4192Glu) c.12604C>G (p.Gln4202Glu) | |
| 19 | g.38561437C>T | CA405669886 | RYR1 | c.1017C>T c.999C>T c.12607C>T (p.Gln4203Ter) c.12592C>T (p.Gln4198Ter) c.12589C>T (p.Gln4197Ter) c.5976C>T c.12574C>T (p.Gln4192Ter) c.12604C>T (p.Gln4202Ter) | ClinVar gnomAD v4 |
| 19 | g.38561438A= | CA2335082680 | RYR1 | c.1018A= c.1000A= c.12608A= (p.Gln4203=) c.12593A= (p.Gln4198=) c.12590A= (p.Gln4197=) c.5977A= c.12575A= (p.Gln4192=) c.12605A= (p.Gln4202=) | |
| 19 | g.38561438A>C | CA405669889 | RYR1 | c.1018A>C c.1000A>C c.12608A>C (p.Gln4203Pro) c.12593A>C (p.Gln4198Pro) c.12590A>C (p.Gln4197Pro) c.5977A>C c.12575A>C (p.Gln4192Pro) c.12605A>C (p.Gln4202Pro) | |
| 19 | g.38561438A>G | CA059149 | RYR1 | c.1018A>G c.1000A>G c.12608A>G (p.Gln4203Arg) c.12593A>G (p.Gln4198Arg) c.12590A>G (p.Gln4197Arg) c.5977A>G c.12575A>G (p.Gln4192Arg) c.12605A>G (p.Gln4202Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561438A>T | CA405669894 | RYR1 | c.1018A>T c.1000A>T c.12608A>T (p.Gln4203Leu) c.12593A>T (p.Gln4198Leu) c.12590A>T (p.Gln4197Leu) c.5977A>T c.12575A>T (p.Gln4192Leu) c.12605A>T (p.Gln4202Leu) | |
| 19 | g.38561439G>A | CA507355430 | RYR1 | c.1019G>A c.1001G>A c.12609G>A (p.Gln4203=) c.12594G>A (p.Gln4198=) c.12591G>A (p.Gln4197=) c.5978G>A c.12576G>A (p.Gln4192=) c.12606G>A (p.Gln4202=) | dbSNP gnomAD v4 |
| 19 | g.38561439G>C | CA405669897 | RYR1 | c.1019G>C c.1001G>C c.12609G>C (p.Gln4203His) c.12594G>C (p.Gln4198His) c.12591G>C (p.Gln4197His) c.5978G>C c.12576G>C (p.Gln4192His) c.12606G>C (p.Gln4202His) | |
| 19 | g.38561439G= | CA2335082681 | RYR1 | c.1019G= c.1001G= c.12609G= (p.Gln4203=) c.12594G= (p.Gln4198=) c.12591G= (p.Gln4197=) c.5978G= c.12576G= (p.Gln4192=) c.12606G= (p.Gln4202=) | |
| 19 | g.38561439G>T | CA405669900 | RYR1 | c.1019G>T c.1001G>T c.12609G>T (p.Gln4203His) c.12594G>T (p.Gln4198His) c.12591G>T (p.Gln4197His) c.5978G>T c.12576G>T (p.Gln4192His) c.12606G>T (p.Gln4202His) | gnomAD v4 |
| 19 | g.38561440T>A | CA405669902 | RYR1 | c.1020T>A c.1002T>A c.12610T>A (p.Trp4204Arg) c.12595T>A (p.Trp4199Arg) c.12592T>A (p.Trp4198Arg) c.5979T>A c.12577T>A (p.Trp4193Arg) c.12607T>A (p.Trp4203Arg) | |
| 19 | g.38561440T>C | CA405669904 | RYR1 | c.1020T>C c.1002T>C c.12610T>C (p.Trp4204Arg) c.12595T>C (p.Trp4199Arg) c.12592T>C (p.Trp4198Arg) c.5979T>C c.12577T>C (p.Trp4193Arg) c.12607T>C (p.Trp4203Arg) | |
| 19 | g.38561440T>G | CA405669906 | RYR1 | c.1020T>G c.1002T>G c.12610T>G (p.Trp4204Gly) c.12595T>G (p.Trp4199Gly) c.12592T>G (p.Trp4198Gly) c.5979T>G c.12577T>G (p.Trp4193Gly) c.12607T>G (p.Trp4203Gly) | |
| 19 | g.38561441G>A | CA405669910 | RYR1 | c.1021G>A c.1003G>A c.12611G>A (p.Trp4204Ter) c.12596G>A (p.Trp4199Ter) c.12593G>A (p.Trp4198Ter) c.5980G>A c.12578G>A (p.Trp4193Ter) c.12608G>A (p.Trp4203Ter) | |
| 19 | g.38561441G>C | CA405669912 | RYR1 | c.1021G>C c.1003G>C c.12611G>C (p.Trp4204Ser) c.12596G>C (p.Trp4199Ser) c.12593G>C (p.Trp4198Ser) c.5980G>C c.12578G>C (p.Trp4193Ser) c.12608G>C (p.Trp4203Ser) | |
| 19 | g.38561441G>T | CA405669914 | RYR1 | c.1021G>T c.1003G>T c.12611G>T (p.Trp4204Leu) c.12596G>T (p.Trp4199Leu) c.12593G>T (p.Trp4198Leu) c.5980G>T c.12578G>T (p.Trp4193Leu) c.12608G>T (p.Trp4203Leu) | |
| 19 | g.38561442G>A | CA023988 | RYR1 | c.1022G>A c.1004G>A c.12612G>A (p.Trp4204Ter) c.12597G>A (p.Trp4199Ter) c.12594G>A (p.Trp4198Ter) c.5981G>A c.12579G>A (p.Trp4193Ter) c.12609G>A (p.Trp4203Ter) | ClinVar dbSNP |
| 19 | g.38561442G>C | CA405669918 | RYR1 | c.1022G>C c.1004G>C c.12612G>C (p.Trp4204Cys) c.12597G>C (p.Trp4199Cys) c.12594G>C (p.Trp4198Cys) c.5981G>C c.12579G>C (p.Trp4193Cys) c.12609G>C (p.Trp4203Cys) | |
| 19 | g.38561442G= | CA2335082682 | RYR1 | c.1022G= c.1004G= c.12612G= (p.Trp4204=) c.12597G= (p.Trp4199=) c.12594G= (p.Trp4198=) c.5981G= c.12579G= (p.Trp4193=) c.12609G= (p.Trp4203=) | |
| 19 | g.38561442G>T | CA405669916 | RYR1 | c.1022G>T c.1004G>T c.12612G>T (p.Trp4204Cys) c.12597G>T (p.Trp4199Cys) c.12594G>T (p.Trp4198Cys) c.5981G>T c.12579G>T (p.Trp4193Cys) c.12609G>T (p.Trp4203Cys) | gnomAD v4 |
| 19 | g.38561443G>A | CA405669927 | RYR1 | c.1023G>A c.1005G>A c.12613G>A (p.Glu4205Lys) c.12598G>A (p.Glu4200Lys) c.12595G>A (p.Glu4199Lys) c.5982G>A c.12580G>A (p.Glu4194Lys) c.12610G>A (p.Glu4204Lys) | ClinVar dbSNP |
| 19 | g.38561443G>C | CA405669922 | RYR1 | c.1023G>C c.1005G>C c.12613G>C (p.Glu4205Gln) c.12598G>C (p.Glu4200Gln) c.12595G>C (p.Glu4199Gln) c.5982G>C c.12580G>C (p.Glu4194Gln) c.12610G>C (p.Glu4204Gln) | gnomAD v4 |
| 19 | g.38561443G= | CA2335082683 | RYR1 | c.1023G= c.1005G= c.12613G= (p.Glu4205=) c.12598G= (p.Glu4200=) c.12595G= (p.Glu4199=) c.5982G= c.12580G= (p.Glu4194=) c.12610G= (p.Glu4204=) | |
| 19 | g.38561443G>T | CA405669925 | RYR1 | c.1023G>T c.1005G>T c.12613G>T (p.Glu4205Ter) c.12598G>T (p.Glu4200Ter) c.12595G>T (p.Glu4199Ter) c.5982G>T c.12580G>T (p.Glu4194Ter) c.12610G>T (p.Glu4204Ter) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561444A= | CA2335082684 | RYR1 | c.1024A= c.1006A= c.12614A= (p.Glu4205=) c.12599A= (p.Glu4200=) c.12596A= (p.Glu4199=) c.5983A= c.12581A= (p.Glu4194=) c.12611A= (p.Glu4204=) | |
| 19 | g.38561444A>C | CA405669930 | RYR1 | c.1024A>C c.1006A>C c.12614A>C (p.Glu4205Ala) c.12599A>C (p.Glu4200Ala) c.12596A>C (p.Glu4199Ala) c.5983A>C c.12581A>C (p.Glu4194Ala) c.12611A>C (p.Glu4204Ala) | |
| 19 | g.38561444A>G | CA405669934 | RYR1 | c.1024A>G c.1006A>G c.12614A>G (p.Glu4205Gly) c.12599A>G (p.Glu4200Gly) c.12596A>G (p.Glu4199Gly) c.5983A>G c.12581A>G (p.Glu4194Gly) c.12611A>G (p.Glu4204Gly) | gnomAD v4 |
| 19 | g.38561444A>T | CA405669935 | RYR1 | c.1024A>T c.1006A>T c.12614A>T (p.Glu4205Val) c.12599A>T (p.Glu4200Val) c.12596A>T (p.Glu4199Val) c.5983A>T c.12581A>T (p.Glu4194Val) c.12611A>T (p.Glu4204Val) | dbSNP |
| 19 | g.38561445G>A | CA507355444 | RYR1 | c.1025G>A c.1007G>A c.12615G>A (p.Glu4205=) c.12600G>A (p.Glu4200=) c.12597G>A (p.Glu4199=) c.5984G>A c.12582G>A (p.Glu4194=) c.12612G>A (p.Glu4204=) | dbSNP gnomAD v4 |
| 19 | g.38561445G>C | CA405669937 | RYR1 | c.1025G>C c.1007G>C c.12615G>C (p.Glu4205Asp) c.12600G>C (p.Glu4200Asp) c.12597G>C (p.Glu4199Asp) c.5984G>C c.12582G>C (p.Glu4194Asp) c.12612G>C (p.Glu4204Asp) | dbSNP gnomAD v4 |
| 19 | g.38561445G= | CA2335082685 | RYR1 | c.1025G= c.1007G= c.12615G= (p.Glu4205=) c.12600G= (p.Glu4200=) c.12597G= (p.Glu4199=) c.5984G= c.12582G= (p.Glu4194=) c.12612G= (p.Glu4204=) | |
| 19 | g.38561445G>T | CA405669940 | RYR1 | c.1025G>T c.1007G>T c.12615G>T (p.Glu4205Asp) c.12600G>T (p.Glu4200Asp) c.12597G>T (p.Glu4199Asp) c.5984G>T c.12582G>T (p.Glu4194Asp) c.12612G>T (p.Glu4204Asp) | gnomAD v4 |
| 19 | g.38561446A= | CA2335082686 | RYR1 | c.1026A= c.1008A= c.12616A= (p.Met4206=) c.12601A= (p.Met4201=) c.12598A= (p.Met4200=) c.5985A= c.12583A= (p.Met4195=) c.12613A= (p.Met4205=) | |
| 19 | g.38561446A>C | CA405669942 | RYR1 | c.1026A>C c.1008A>C c.12616A>C (p.Met4206Leu) c.12601A>C (p.Met4201Leu) c.12598A>C (p.Met4200Leu) c.5985A>C c.12583A>C (p.Met4195Leu) c.12613A>C (p.Met4205Leu) | |
| 19 | g.38561446A>G | CA405669944 | RYR1 | c.1026A>G c.1008A>G c.12616A>G (p.Met4206Val) c.12601A>G (p.Met4201Val) c.12598A>G (p.Met4200Val) c.5985A>G c.12583A>G (p.Met4195Val) c.12613A>G (p.Met4205Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561446A>T | CA405669946 | RYR1 | c.1026A>T c.1008A>T c.12616A>T (p.Met4206Leu) c.12601A>T (p.Met4201Leu) c.12598A>T (p.Met4200Leu) c.5985A>T c.12583A>T (p.Met4195Leu) c.12613A>T (p.Met4205Leu) | gnomAD v4 |
| 19 | g.38561447T>A | CA405669949 | RYR1 | c.1027T>A c.1009T>A c.12617T>A (p.Met4206Lys) c.12602T>A (p.Met4201Lys) c.12599T>A (p.Met4200Lys) c.5986T>A c.12584T>A (p.Met4195Lys) c.12614T>A (p.Met4205Lys) | |
| 19 | g.38561447T>C | CA405669951 | RYR1 | c.1027T>C c.1009T>C c.12617T>C (p.Met4206Thr) c.12602T>C (p.Met4201Thr) c.12599T>C (p.Met4200Thr) c.5986T>C c.12584T>C (p.Met4195Thr) c.12614T>C (p.Met4205Thr) | |
| 19 | g.38561447T>G | CA405669952 | RYR1 | c.1027T>G c.1009T>G c.12617T>G (p.Met4206Arg) c.12602T>G (p.Met4201Arg) c.12599T>G (p.Met4200Arg) c.5986T>G c.12584T>G (p.Met4195Arg) c.12614T>G (p.Met4205Arg) | |
| 19 | g.38561448G>A | CA405669953 | RYR1 | c.1028G>A c.1010G>A c.12618G>A (p.Met4206Ile) c.12603G>A (p.Met4201Ile) c.12600G>A (p.Met4200Ile) c.5987G>A c.12585G>A (p.Met4195Ile) c.12615G>A (p.Met4205Ile) | |
| 19 | g.38561448G>C | CA405669955 | RYR1 | c.1028G>C c.1010G>C c.12618G>C (p.Met4206Ile) c.12603G>C (p.Met4201Ile) c.12600G>C (p.Met4200Ile) c.5987G>C c.12585G>C (p.Met4195Ile) c.12615G>C (p.Met4205Ile) | |
| 19 | g.38561448G>T | CA405669954 | RYR1 | c.1028G>T c.1010G>T c.12618G>T (p.Met4206Ile) c.12603G>T (p.Met4201Ile) c.12600G>T (p.Met4200Ile) c.5987G>T c.12585G>T (p.Met4195Ile) c.12615G>T (p.Met4205Ile) | gnomAD v4 |
| 19 | g.38561449C>A | CA10648648 | RYR1 | c.1029C>A c.1011C>A c.12619C>A (p.Pro4207Thr) c.12604C>A (p.Pro4202Thr) c.12601C>A (p.Pro4201Thr) c.5988C>A c.12586C>A (p.Pro4196Thr) c.12616C>A (p.Pro4206Thr) | ClinVar dbSNP gnomAD v4 |
| 19 | g.38561449C= | CA2335082687 | RYR1 | c.1029C= c.1011C= c.12619C= (p.Pro4207=) c.12604C= (p.Pro4202=) c.12601C= (p.Pro4201=) c.5988C= c.12586C= (p.Pro4196=) c.12616C= (p.Pro4206=) | |
| 19 | g.38561449C>G | CA405669959 | RYR1 | c.1029C>G c.1011C>G c.12619C>G (p.Pro4207Ala) c.12604C>G (p.Pro4202Ala) c.12601C>G (p.Pro4201Ala) c.5988C>G c.12586C>G (p.Pro4196Ala) c.12616C>G (p.Pro4206Ala) | |
| 19 | g.38561449C>T | CA405669961 | RYR1 | c.1029C>T c.1011C>T c.12619C>T (p.Pro4207Ser) c.12604C>T (p.Pro4202Ser) c.12601C>T (p.Pro4201Ser) c.5988C>T c.12586C>T (p.Pro4196Ser) c.12616C>T (p.Pro4206Ser) | gnomAD v4 |
| 19 | g.38561450C>A | CA405669965 | RYR1 | c.1030C>A c.1012C>A c.12620C>A (p.Pro4207His) c.12605C>A (p.Pro4202His) c.12602C>A (p.Pro4201His) c.5989C>A c.12587C>A (p.Pro4196His) c.12617C>A (p.Pro4206His) | |
| 19 | g.38561450C>G | CA405669972 | RYR1 | c.1030C>G c.1012C>G c.12620C>G (p.Pro4207Arg) c.12605C>G (p.Pro4202Arg) c.12602C>G (p.Pro4201Arg) c.5989C>G c.12587C>G (p.Pro4196Arg) c.12617C>G (p.Pro4206Arg) | |
| 19 | g.38561450C>T | CA405669974 | RYR1 | c.1030C>T c.1012C>T c.12620C>T (p.Pro4207Leu) c.12605C>T (p.Pro4202Leu) c.12602C>T (p.Pro4201Leu) c.5989C>T c.12587C>T (p.Pro4196Leu) c.12617C>T (p.Pro4206Leu) | gnomAD v4 |
| 19 | g.38561451C>A | CA059157 | RYR1 | c.1031C>A c.1013C>A c.12621C>A (p.Pro4207=) c.12606C>A (p.Pro4202=) c.12603C>A (p.Pro4201=) c.5990C>A c.12588C>A (p.Pro4196=) c.12618C>A (p.Pro4206=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38561451C= | CA2335082688 | RYR1 | c.1031C= c.1013C= c.12621C= (p.Pro4207=) c.12606C= (p.Pro4202=) c.12603C= (p.Pro4201=) c.5990C= c.12588C= (p.Pro4196=) c.12618C= (p.Pro4206=) | |
| 19 | g.38561451C>G | CA059165 | RYR1 | c.1031C>G c.1013C>G c.12621C>G (p.Pro4207=) c.12606C>G (p.Pro4202=) c.12603C>G (p.Pro4201=) c.5990C>G c.12588C>G (p.Pro4196=) c.12618C>G (p.Pro4206=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38561451C>T | CA507355449 | RYR1 | c.1031C>T c.1013C>T c.12621C>T (p.Pro4207=) c.12606C>T (p.Pro4202=) c.12603C>T (p.Pro4201=) c.5990C>T c.12588C>T (p.Pro4196=) c.12618C>T (p.Pro4206=) | dbSNP |