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.237627889C>A | CA423821709 | RYR2 | c.6249C>A (p.Ala2083=) c.6201C>A (p.Ala2067=) c.6279C>A (p.Ala2093=) c.6276C>A (p.Ala2092=) c.6246C>A (p.Ala2082=) n.6560C>A c.6258C>A (p.Ala2086=) n.6593C>A | |
| 1 | g.237627889C>G | CA423821710 | RYR2 | c.6249C>G (p.Ala2083=) c.6201C>G (p.Ala2067=) c.6279C>G (p.Ala2093=) c.6276C>G (p.Ala2092=) c.6246C>G (p.Ala2082=) n.6560C>G c.6258C>G (p.Ala2086=) n.6593C>G | |
| 1 | g.237627889C>T | CA423821711 | RYR2 | c.6249C>T (p.Ala2083=) c.6201C>T (p.Ala2067=) c.6279C>T (p.Ala2093=) c.6276C>T (p.Ala2092=) c.6246C>T (p.Ala2082=) n.6560C>T c.6258C>T (p.Ala2086=) n.6593C>T | ClinVar dbSNP |
| 1 | g.237627890A= | CA2487417978 | RYR2 | c.6250A= (p.Met2084=) c.6202A= (p.Met2068=) c.6280A= (p.Met2094=) c.6277A= (p.Met2093=) c.6247A= (p.Met2083=) n.6561A= c.6259A= (p.Met2087=) n.6594A= | |
| 1 | g.237627890A>C | CA345410738 | RYR2 | c.6250A>C (p.Met2084Leu) c.6202A>C (p.Met2068Leu) c.6280A>C (p.Met2094Leu) c.6277A>C (p.Met2093Leu) c.6247A>C (p.Met2083Leu) n.6561A>C c.6259A>C (p.Met2087Leu) n.6594A>C | |
| 1 | g.237627890A>G | CA345410741 | RYR2 | c.6250A>G (p.Met2084Val) c.6202A>G (p.Met2068Val) c.6280A>G (p.Met2094Val) c.6277A>G (p.Met2093Val) c.6247A>G (p.Met2083Val) n.6561A>G c.6259A>G (p.Met2087Val) n.6594A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.237627890A>T | CA345410743 | RYR2 | c.6250A>T (p.Met2084Leu) c.6202A>T (p.Met2068Leu) c.6280A>T (p.Met2094Leu) c.6277A>T (p.Met2093Leu) c.6247A>T (p.Met2083Leu) n.6561A>T c.6259A>T (p.Met2087Leu) n.6594A>T | |
| 1 | g.237627891T>A | CA345410746 | RYR2 | c.6251T>A (p.Met2084Lys) c.6203T>A (p.Met2068Lys) c.6281T>A (p.Met2094Lys) c.6278T>A (p.Met2093Lys) c.6248T>A (p.Met2083Lys) n.6562T>A c.6260T>A (p.Met2087Lys) n.6595T>A | |
| 1 | g.237627891T>C | CA345410753 | RYR2 | c.6251T>C (p.Met2084Thr) c.6203T>C (p.Met2068Thr) c.6281T>C (p.Met2094Thr) c.6278T>C (p.Met2093Thr) c.6248T>C (p.Met2083Thr) n.6562T>C c.6260T>C (p.Met2087Thr) n.6595T>C | gnomAD v4 |
| 1 | g.237627891T>G | CA345410747 | RYR2 | c.6251T>G (p.Met2084Arg) c.6203T>G (p.Met2068Arg) c.6281T>G (p.Met2094Arg) c.6278T>G (p.Met2093Arg) c.6248T>G (p.Met2083Arg) n.6562T>G c.6260T>G (p.Met2087Arg) n.6595T>G | |
| 1 | g.237627892G>A | CA345410756 | RYR2 | c.6252G>A (p.Met2084Ile) c.6204G>A (p.Met2068Ile) c.6282G>A (p.Met2094Ile) c.6279G>A (p.Met2093Ile) c.6249G>A (p.Met2083Ile) n.6563G>A c.6261G>A (p.Met2087Ile) n.6596G>A | gnomAD v4 |
| 1 | g.237627892G>C | CA345410758 | RYR2 | c.6252G>C (p.Met2084Ile) c.6204G>C (p.Met2068Ile) c.6282G>C (p.Met2094Ile) c.6279G>C (p.Met2093Ile) c.6249G>C (p.Met2083Ile) n.6563G>C c.6261G>C (p.Met2087Ile) n.6596G>C | dbSNP |
| 1 | g.237627892G= | CA2487417979 | RYR2 | c.6252G= (p.Met2084=) c.6204G= (p.Met2068=) c.6282G= (p.Met2094=) c.6279G= (p.Met2093=) c.6249G= (p.Met2083=) n.6563G= c.6261G= (p.Met2087=) n.6596G= | |
| 1 | g.237627892G>T | CA345410772 | RYR2 | c.6252G>T (p.Met2084Ile) c.6204G>T (p.Met2068Ile) c.6282G>T (p.Met2094Ile) c.6279G>T (p.Met2093Ile) c.6249G>T (p.Met2083Ile) n.6563G>T c.6261G>T (p.Met2087Ile) n.6596G>T | |
| 1 | g.237627893T>A | CA345410776 | RYR2 | c.6253T>A (p.Phe2085Ile) c.6205T>A (p.Phe2069Ile) c.6283T>A (p.Phe2095Ile) c.6280T>A (p.Phe2094Ile) c.6250T>A (p.Phe2084Ile) n.6564T>A c.6262T>A (p.Phe2088Ile) n.6597T>A | |
| 1 | g.237627893T>C | CA345410780 | RYR2 | c.6253T>C (p.Phe2085Leu) c.6205T>C (p.Phe2069Leu) c.6283T>C (p.Phe2095Leu) c.6280T>C (p.Phe2094Leu) c.6250T>C (p.Phe2084Leu) n.6564T>C c.6262T>C (p.Phe2088Leu) n.6597T>C | |
| 1 | g.237627893T>G | CA345410783 | RYR2 | c.6253T>G (p.Phe2085Val) c.6205T>G (p.Phe2069Val) c.6283T>G (p.Phe2095Val) c.6280T>G (p.Phe2094Val) c.6250T>G (p.Phe2084Val) n.6564T>G c.6262T>G (p.Phe2088Val) n.6597T>G | |
| 1 | g.237627894T>A | CA345410786 | RYR2 | c.6254T>A (p.Phe2085Tyr) c.6206T>A (p.Phe2069Tyr) c.6284T>A (p.Phe2095Tyr) c.6281T>A (p.Phe2094Tyr) c.6251T>A (p.Phe2084Tyr) n.6565T>A c.6263T>A (p.Phe2088Tyr) n.6598T>A | |
| 1 | g.237627894T>C | CA087082 | RYR2 | c.6254T>C (p.Phe2085Ser) c.6206T>C (p.Phe2069Ser) c.6284T>C (p.Phe2095Ser) c.6281T>C (p.Phe2094Ser) c.6251T>C (p.Phe2084Ser) n.6565T>C c.6263T>C (p.Phe2088Ser) n.6598T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237627894T>G | CA345410791 | RYR2 | c.6254T>G (p.Phe2085Cys) c.6206T>G (p.Phe2069Cys) c.6284T>G (p.Phe2095Cys) c.6281T>G (p.Phe2094Cys) c.6251T>G (p.Phe2084Cys) n.6565T>G c.6263T>G (p.Phe2088Cys) n.6598T>G | |
| 1 | g.237627894T= | CA2487417980 | RYR2 | c.6254T= (p.Phe2085=) c.6206T= (p.Phe2069=) c.6284T= (p.Phe2095=) c.6281T= (p.Phe2094=) c.6251T= (p.Phe2084=) n.6565T= c.6263T= (p.Phe2088=) n.6598T= | |
| 1 | g.237627895T>A | CA345410795 | RYR2 | c.6255T>A (p.Phe2085Leu) c.6207T>A (p.Phe2069Leu) c.6285T>A (p.Phe2095Leu) c.6282T>A (p.Phe2094Leu) c.6252T>A (p.Phe2084Leu) n.6566T>A c.6264T>A (p.Phe2088Leu) n.6599T>A | |
| 1 | g.237627895T>C | CA423821712 | RYR2 | c.6255T>C (p.Phe2085=) c.6207T>C (p.Phe2069=) c.6285T>C (p.Phe2095=) c.6282T>C (p.Phe2094=) c.6252T>C (p.Phe2084=) n.6566T>C c.6264T>C (p.Phe2088=) n.6599T>C | |
| 1 | g.237627895T>G | CA345410798 | RYR2 | c.6255T>G (p.Phe2085Leu) c.6207T>G (p.Phe2069Leu) c.6285T>G (p.Phe2095Leu) c.6282T>G (p.Phe2094Leu) c.6252T>G (p.Phe2084Leu) n.6566T>G c.6264T>G (p.Phe2088Leu) n.6599T>G | |
| 1 | g.237627896G>A | CA345410815 | RYR2 | c.6256G>A (p.Val2086Met) c.6208G>A (p.Val2070Met) c.6286G>A (p.Val2096Met) c.6283G>A (p.Val2095Met) c.6253G>A (p.Val2085Met) n.6567G>A c.6265G>A (p.Val2089Met) n.6600G>A | |
| 1 | g.237627896G>C | CA345410812 | RYR2 | c.6256G>C (p.Val2086Leu) c.6208G>C (p.Val2070Leu) c.6286G>C (p.Val2096Leu) c.6283G>C (p.Val2095Leu) c.6253G>C (p.Val2085Leu) n.6567G>C c.6265G>C (p.Val2089Leu) n.6600G>C | |
| 1 | g.237627896G>T | CA345410810 | RYR2 | c.6256G>T (p.Val2086Leu) c.6208G>T (p.Val2070Leu) c.6286G>T (p.Val2096Leu) c.6283G>T (p.Val2095Leu) c.6253G>T (p.Val2085Leu) n.6567G>T c.6265G>T (p.Val2089Leu) n.6600G>T | gnomAD v4 |
| 1 | g.237627897T>A | CA345410820 | RYR2 | c.6257T>A (p.Val2086Glu) c.6209T>A (p.Val2070Glu) c.6287T>A (p.Val2096Glu) c.6284T>A (p.Val2095Glu) c.6254T>A (p.Val2085Glu) n.6568T>A c.6266T>A (p.Val2089Glu) n.6601T>A | |
| 1 | g.237627897T>C | CA345410826 | RYR2 | c.6257T>C (p.Val2086Ala) c.6209T>C (p.Val2070Ala) c.6287T>C (p.Val2096Ala) c.6284T>C (p.Val2095Ala) c.6254T>C (p.Val2085Ala) n.6568T>C c.6266T>C (p.Val2089Ala) n.6601T>C | |
| 1 | g.237627897T>G | CA345410822 | RYR2 | c.6257T>G (p.Val2086Gly) c.6209T>G (p.Val2070Gly) c.6287T>G (p.Val2096Gly) c.6284T>G (p.Val2095Gly) c.6254T>G (p.Val2085Gly) n.6568T>G c.6266T>G (p.Val2089Gly) n.6601T>G | |
| 1 | g.237627898G>A | CA423821713 | RYR2 | c.6258G>A (p.Val2086=) c.6210G>A (p.Val2070=) c.6288G>A (p.Val2096=) c.6285G>A (p.Val2095=) c.6255G>A (p.Val2085=) n.6569G>A c.6267G>A (p.Val2089=) n.6602G>A | |
| 1 | g.237627898G>C | CA423821714 | RYR2 | c.6258G>C (p.Val2086=) c.6210G>C (p.Val2070=) c.6288G>C (p.Val2096=) c.6285G>C (p.Val2095=) c.6255G>C (p.Val2085=) n.6569G>C c.6267G>C (p.Val2089=) n.6602G>C | |
| 1 | g.237627898G>T | CA423821715 | RYR2 | c.6258G>T (p.Val2086=) c.6210G>T (p.Val2070=) c.6288G>T (p.Val2096=) c.6285G>T (p.Val2095=) c.6255G>T (p.Val2085=) n.6569G>T c.6267G>T (p.Val2089=) n.6602G>T | |
| 1 | g.237627899T>A | CA345410829 | RYR2 | c.6259T>A (p.Leu2087Met) c.6211T>A (p.Leu2071Met) c.6289T>A (p.Leu2097Met) c.6286T>A (p.Leu2096Met) c.6256T>A (p.Leu2086Met) n.6570T>A c.6268T>A (p.Leu2090Met) n.6603T>A | |
| 1 | g.237627899T>C | CA423821716 | RYR2 | c.6259T>C (p.Leu2087=) c.6211T>C (p.Leu2071=) c.6289T>C (p.Leu2097=) c.6286T>C (p.Leu2096=) c.6256T>C (p.Leu2086=) n.6570T>C c.6268T>C (p.Leu2090=) n.6603T>C | |
| 1 | g.237627899T>G | CA345410831 | RYR2 | c.6259T>G (p.Leu2087Val) c.6211T>G (p.Leu2071Val) c.6289T>G (p.Leu2097Val) c.6286T>G (p.Leu2096Val) c.6256T>G (p.Leu2086Val) n.6570T>G c.6268T>G (p.Leu2090Val) n.6603T>G | |
| 1 | g.237627900T>A | CA345410835 | RYR2 | c.6260T>A (p.Leu2087Ter) c.6212T>A (p.Leu2071Ter) c.6290T>A (p.Leu2097Ter) c.6287T>A (p.Leu2096Ter) c.6257T>A (p.Leu2086Ter) n.6571T>A c.6269T>A (p.Leu2090Ter) n.6604T>A | |
| 1 | g.237627900T>C | CA345410838 | RYR2 | c.6260T>C (p.Leu2087Ser) c.6212T>C (p.Leu2071Ser) c.6290T>C (p.Leu2097Ser) c.6287T>C (p.Leu2096Ser) c.6257T>C (p.Leu2086Ser) n.6571T>C c.6269T>C (p.Leu2090Ser) n.6604T>C | gnomAD v4 |
| 1 | g.237627900T>G | CA345410837 | RYR2 | c.6260T>G (p.Leu2087Trp) c.6212T>G (p.Leu2071Trp) c.6290T>G (p.Leu2097Trp) c.6287T>G (p.Leu2096Trp) c.6257T>G (p.Leu2086Trp) n.6571T>G c.6269T>G (p.Leu2090Trp) n.6604T>G | |
| 1 | g.237627901G>A | CA423821717 | RYR2 | c.6261G>A (p.Leu2087=) c.6213G>A (p.Leu2071=) c.6291G>A (p.Leu2097=) c.6288G>A (p.Leu2096=) c.6258G>A (p.Leu2086=) n.6572G>A c.6270G>A (p.Leu2090=) n.6605G>A | COSMIC |
| 1 | g.237627901G>C | CA345410842 | RYR2 | c.6261G>C (p.Leu2087Phe) c.6213G>C (p.Leu2071Phe) c.6291G>C (p.Leu2097Phe) c.6288G>C (p.Leu2096Phe) c.6258G>C (p.Leu2086Phe) n.6572G>C c.6270G>C (p.Leu2090Phe) n.6605G>C | |
| 1 | g.237627901G>T | CA345410845 | RYR2 | c.6261G>T (p.Leu2087Phe) c.6213G>T (p.Leu2071Phe) c.6291G>T (p.Leu2097Phe) c.6288G>T (p.Leu2096Phe) c.6258G>T (p.Leu2086Phe) n.6572G>T c.6270G>T (p.Leu2090Phe) n.6605G>T | dbSNP |
| 1 | g.237627902C>A | CA345410848 | RYR2 | c.6262C>A (p.Leu2088Ile) c.6214C>A (p.Leu2072Ile) c.6292C>A (p.Leu2098Ile) c.6289C>A (p.Leu2097Ile) c.6259C>A (p.Leu2087Ile) n.6573C>A c.6271C>A (p.Leu2091Ile) n.6606C>A | |
| 1 | g.237627902C>G | CA345410851 | RYR2 | c.6262C>G (p.Leu2088Val) c.6214C>G (p.Leu2072Val) c.6292C>G (p.Leu2098Val) c.6289C>G (p.Leu2097Val) c.6259C>G (p.Leu2087Val) n.6573C>G c.6271C>G (p.Leu2091Val) n.6606C>G | |
| 1 | g.237627902C>T | CA345410855 | RYR2 | c.6262C>T (p.Leu2088Phe) c.6214C>T (p.Leu2072Phe) c.6292C>T (p.Leu2098Phe) c.6289C>T (p.Leu2097Phe) c.6259C>T (p.Leu2087Phe) n.6573C>T c.6271C>T (p.Leu2091Phe) n.6606C>T | |
| 1 | g.237627903T>A | CA345410859 | RYR2 | c.6263T>A (p.Leu2088His) c.6215T>A (p.Leu2072His) c.6293T>A (p.Leu2098His) c.6290T>A (p.Leu2097His) c.6260T>A (p.Leu2087His) n.6574T>A c.6272T>A (p.Leu2091His) n.6607T>A | |
| 1 | g.237627903T>C | CA345410861 | RYR2 | c.6263T>C (p.Leu2088Pro) c.6215T>C (p.Leu2072Pro) c.6293T>C (p.Leu2098Pro) c.6290T>C (p.Leu2097Pro) c.6260T>C (p.Leu2087Pro) n.6574T>C c.6272T>C (p.Leu2091Pro) n.6607T>C | |
| 1 | g.237627903T>G | CA345410865 | RYR2 | c.6263T>G (p.Leu2088Arg) c.6215T>G (p.Leu2072Arg) c.6293T>G (p.Leu2098Arg) c.6290T>G (p.Leu2097Arg) c.6260T>G (p.Leu2087Arg) n.6574T>G c.6272T>G (p.Leu2091Arg) n.6607T>G | |
| 1 | g.237627904C>A | CA423821718 | RYR2 | c.6264C>A (p.Leu2088=) c.6216C>A (p.Leu2072=) c.6294C>A (p.Leu2098=) c.6291C>A (p.Leu2097=) c.6261C>A (p.Leu2087=) n.6575C>A c.6273C>A (p.Leu2091=) n.6608C>A | |
| 1 | g.237627904C>G | CA423821719 | RYR2 | c.6264C>G (p.Leu2088=) c.6216C>G (p.Leu2072=) c.6294C>G (p.Leu2098=) c.6291C>G (p.Leu2097=) c.6261C>G (p.Leu2087=) n.6575C>G c.6273C>G (p.Leu2091=) n.6608C>G | |
| 1 | g.237627904C>T | CA423821720 | RYR2 | c.6264C>T (p.Leu2088=) c.6216C>T (p.Leu2072=) c.6294C>T (p.Leu2098=) c.6291C>T (p.Leu2097=) c.6261C>T (p.Leu2087=) n.6575C>T c.6273C>T (p.Leu2091=) n.6608C>T | |
| 1 | g.237627905C>A | CA345410867 | RYR2 | c.6265C>A (p.His2089Asn) c.6217C>A (p.His2073Asn) c.6295C>A (p.His2099Asn) c.6292C>A (p.His2098Asn) c.6262C>A (p.His2088Asn) n.6576C>A c.6274C>A (p.His2092Asn) n.6609C>A | |
| 1 | g.237627905C= | CA2487417981 | RYR2 | c.6265C= (p.His2089=) c.6217C= (p.His2073=) c.6295C= (p.His2099=) c.6292C= (p.His2098=) c.6262C= (p.His2088=) n.6576C= c.6274C= (p.His2092=) n.6609C= | |
| 1 | g.237627905C>G | CA345410870 | RYR2 | c.6265C>G (p.His2089Asp) c.6217C>G (p.His2073Asp) c.6295C>G (p.His2099Asp) c.6292C>G (p.His2098Asp) c.6262C>G (p.His2088Asp) n.6576C>G c.6274C>G (p.His2092Asp) n.6609C>G | |
| 1 | g.237627905C>T | CA16603640 | RYR2 | c.6265C>T (p.His2089Tyr) c.6217C>T (p.His2073Tyr) c.6295C>T (p.His2099Tyr) c.6292C>T (p.His2098Tyr) c.6262C>T (p.His2088Tyr) n.6576C>T c.6274C>T (p.His2092Tyr) n.6609C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237627906A>C | CA345410880 | RYR2 | c.6266A>C (p.His2089Pro) c.6218A>C (p.His2073Pro) c.6296A>C (p.His2099Pro) c.6293A>C (p.His2098Pro) c.6263A>C (p.His2088Pro) n.6577A>C c.6275A>C (p.His2092Pro) n.6610A>C | |
| 1 | g.237627906A>G | CA345410878 | RYR2 | c.6266A>G (p.His2089Arg) c.6218A>G (p.His2073Arg) c.6296A>G (p.His2099Arg) c.6293A>G (p.His2098Arg) c.6263A>G (p.His2088Arg) n.6577A>G c.6275A>G (p.His2092Arg) n.6610A>G | |
| 1 | g.237627906A>T | CA345410875 | RYR2 | c.6266A>T (p.His2089Leu) c.6218A>T (p.His2073Leu) c.6296A>T (p.His2099Leu) c.6293A>T (p.His2098Leu) c.6263A>T (p.His2088Leu) n.6577A>T c.6275A>T (p.His2092Leu) n.6610A>T | |
| 1 | g.237627907T>A | CA345410885 | RYR2 | c.6267T>A (p.His2089Gln) c.6219T>A (p.His2073Gln) c.6297T>A (p.His2099Gln) c.6294T>A (p.His2098Gln) c.6264T>A (p.His2088Gln) n.6578T>A c.6276T>A (p.His2092Gln) n.6611T>A | |
| 1 | g.237627907T>C | CA423821783 | RYR2 | c.6267T>C (p.His2089=) c.6219T>C (p.His2073=) c.6297T>C (p.His2099=) c.6294T>C (p.His2098=) c.6264T>C (p.His2088=) n.6578T>C c.6276T>C (p.His2092=) n.6611T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237627907T>G | CA345410888 | RYR2 | c.6267T>G (p.His2089Gln) c.6219T>G (p.His2073Gln) c.6297T>G (p.His2099Gln) c.6294T>G (p.His2098Gln) c.6264T>G (p.His2088Gln) n.6578T>G c.6276T>G (p.His2092Gln) n.6611T>G | gnomAD v4 |
| 1 | g.237627907T= | CA2487417982 | RYR2 | c.6267T= (p.His2089=) c.6219T= (p.His2073=) c.6297T= (p.His2099=) c.6294T= (p.His2098=) c.6264T= (p.His2088=) n.6578T= c.6276T= (p.His2092=) n.6611T= | |
| 1 | g.237627908C>A | CA423821786 | RYR2 | c.6268C>A (p.Arg2090=) c.6220C>A (p.Arg2074=) c.6298C>A (p.Arg2100=) c.6295C>A (p.Arg2099=) c.6265C>A (p.Arg2089=) n.6579C>A c.6277C>A (p.Arg2093=) n.6612C>A | |
| 1 | g.237627908C= | CA2487417983 | RYR2 | c.6268C= (p.Arg2090=) c.6220C= (p.Arg2074=) c.6298C= (p.Arg2100=) c.6295C= (p.Arg2099=) c.6265C= (p.Arg2089=) n.6579C= c.6277C= (p.Arg2093=) n.6612C= | |
| 1 | g.237627908C>G | CA345410893 | RYR2 | c.6268C>G (p.Arg2090Gly) c.6220C>G (p.Arg2074Gly) c.6298C>G (p.Arg2100Gly) c.6295C>G (p.Arg2099Gly) c.6265C>G (p.Arg2089Gly) n.6579C>G c.6277C>G (p.Arg2093Gly) n.6612C>G | |
| 1 | g.237627908C>T | CA345410896 | RYR2 | c.6268C>T (p.Arg2090Trp) c.6220C>T (p.Arg2074Trp) c.6298C>T (p.Arg2100Trp) c.6295C>T (p.Arg2099Trp) c.6265C>T (p.Arg2089Trp) n.6579C>T c.6277C>T (p.Arg2093Trp) n.6612C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.237627908_237627909delinsTC | CA645514118 | RYR2 | c.6268_6269delinsTC (p.Arg2090Ser) c.6220_6221delinsTC (p.Arg2074Ser) c.6298_6299delinsTC (p.Arg2100Ser) c.6295_6296delinsTC (p.Arg2099Ser) c.6265_6266delinsTC (p.Arg2089Ser) n.6579_6580delinsTC c.6277_6278delinsTC (p.Arg2093Ser) n.6612_6613delinsTC | COSMIC |
| 1 | g.237627909G>A | CA345410900 | RYR2 | c.6269G>A (p.Arg2090Gln) c.6221G>A (p.Arg2074Gln) c.6299G>A (p.Arg2100Gln) c.6296G>A (p.Arg2099Gln) c.6266G>A (p.Arg2089Gln) n.6580G>A c.6278G>A (p.Arg2093Gln) n.6613G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237627909G>C | CA345410902 | RYR2 | c.6269G>C (p.Arg2090Pro) c.6221G>C (p.Arg2074Pro) c.6299G>C (p.Arg2100Pro) c.6296G>C (p.Arg2099Pro) c.6266G>C (p.Arg2089Pro) n.6580G>C c.6278G>C (p.Arg2093Pro) n.6613G>C | |
| 1 | g.237627909G= | CA2487417984 | RYR2 | c.6269G= (p.Arg2090=) c.6221G= (p.Arg2074=) c.6299G= (p.Arg2100=) c.6296G= (p.Arg2099=) c.6266G= (p.Arg2089=) n.6580G= c.6278G= (p.Arg2093=) n.6613G= | |
| 1 | g.237627909G>T | CA345410904 | RYR2 | c.6269G>T (p.Arg2090Leu) c.6221G>T (p.Arg2074Leu) c.6299G>T (p.Arg2100Leu) c.6296G>T (p.Arg2099Leu) c.6266G>T (p.Arg2089Leu) n.6580G>T c.6278G>T (p.Arg2093Leu) n.6613G>T | ClinVar |
| 1 | g.237627910G>A | CA423821792 | RYR2 | c.6270G>A (p.Arg2090=) c.6222G>A (p.Arg2074=) c.6300G>A (p.Arg2100=) c.6297G>A (p.Arg2099=) c.6267G>A (p.Arg2089=) n.6581G>A c.6279G>A (p.Arg2093=) n.6614G>A | |
| 1 | g.237627910G>C | CA423821793 | RYR2 | c.6270G>C (p.Arg2090=) c.6222G>C (p.Arg2074=) c.6300G>C (p.Arg2100=) c.6297G>C (p.Arg2099=) c.6267G>C (p.Arg2089=) n.6581G>C c.6279G>C (p.Arg2093=) n.6614G>C | |
| 1 | g.237627910G= | CA2487417985 | RYR2 | c.6270G= (p.Arg2090=) c.6222G= (p.Arg2074=) c.6300G= (p.Arg2100=) c.6297G= (p.Arg2099=) c.6267G= (p.Arg2089=) n.6581G= c.6279G= (p.Arg2093=) n.6614G= | |
| 1 | g.237627910G>T | CA423821791 | RYR2 | c.6270G>T (p.Arg2090=) c.6222G>T (p.Arg2074=) c.6300G>T (p.Arg2100=) c.6297G>T (p.Arg2099=) c.6267G>T (p.Arg2089=) n.6581G>T c.6279G>T (p.Arg2093=) n.6614G>T | dbSNP |
| 1 | g.237627911C>A | CA345410910 | RYR2 | c.6271C>A (p.Gln2091Lys) c.6223C>A (p.Gln2075Lys) c.6301C>A (p.Gln2101Lys) c.6298C>A (p.Gln2100Lys) c.6268C>A (p.Gln2090Lys) n.6582C>A c.6280C>A (p.Gln2094Lys) n.6615C>A | |
| 1 | g.237627911C>G | CA345410912 | RYR2 | c.6271C>G (p.Gln2091Glu) c.6223C>G (p.Gln2075Glu) c.6301C>G (p.Gln2101Glu) c.6298C>G (p.Gln2100Glu) c.6268C>G (p.Gln2090Glu) n.6582C>G c.6280C>G (p.Gln2094Glu) n.6615C>G | |
| 1 | g.237627911C>T | CA345410914 | RYR2 | c.6271C>T (p.Gln2091Ter) c.6223C>T (p.Gln2075Ter) c.6301C>T (p.Gln2101Ter) c.6298C>T (p.Gln2100Ter) c.6268C>T (p.Gln2090Ter) n.6582C>T c.6280C>T (p.Gln2094Ter) n.6615C>T | |
| 1 | g.237627912A>C | CA345410919 | RYR2 | c.6272A>C (p.Gln2091Pro) c.6224A>C (p.Gln2075Pro) c.6302A>C (p.Gln2101Pro) c.6299A>C (p.Gln2100Pro) c.6269A>C (p.Gln2090Pro) n.6583A>C c.6281A>C (p.Gln2094Pro) n.6616A>C | |
| 1 | g.237627912A>G | CA345410922 | RYR2 | c.6272A>G (p.Gln2091Arg) c.6224A>G (p.Gln2075Arg) c.6302A>G (p.Gln2101Arg) c.6299A>G (p.Gln2100Arg) c.6269A>G (p.Gln2090Arg) n.6583A>G c.6281A>G (p.Gln2094Arg) n.6616A>G | gnomAD v4 |
| 1 | g.237627912A>T | CA345410924 | RYR2 | c.6272A>T (p.Gln2091Leu) c.6224A>T (p.Gln2075Leu) c.6302A>T (p.Gln2101Leu) c.6299A>T (p.Gln2100Leu) c.6269A>T (p.Gln2090Leu) n.6583A>T c.6281A>T (p.Gln2094Leu) n.6616A>T | |
| 1 | g.237627913G>A | CA423821796 | RYR2 | c.6273G>A (p.Gln2091=) c.6225G>A (p.Gln2075=) c.6303G>A (p.Gln2101=) c.6300G>A (p.Gln2100=) c.6270G>A (p.Gln2090=) n.6584G>A c.6282G>A (p.Gln2094=) n.6617G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.237627913G>C | CA345410929 | RYR2 | c.6273G>C (p.Gln2091His) c.6225G>C (p.Gln2075His) c.6303G>C (p.Gln2101His) c.6300G>C (p.Gln2100His) c.6270G>C (p.Gln2090His) n.6584G>C c.6282G>C (p.Gln2094His) n.6617G>C | gnomAD v4 |
| 1 | g.237627913G= | CA2487417986 | RYR2 | c.6273G= (p.Gln2091=) c.6225G= (p.Gln2075=) c.6303G= (p.Gln2101=) c.6300G= (p.Gln2100=) c.6270G= (p.Gln2090=) n.6584G= c.6282G= (p.Gln2094=) n.6617G= | |
| 1 | g.237627913G>T | CA345410932 | RYR2 | c.6273G>T (p.Gln2091His) c.6225G>T (p.Gln2075His) c.6303G>T (p.Gln2101His) c.6300G>T (p.Gln2100His) c.6270G>T (p.Gln2090His) n.6584G>T c.6282G>T (p.Gln2094His) n.6617G>T | |
| 1 | g.237627914T>A | CA345410937 | RYR2 | c.6274T>A (p.Tyr2092Asn) c.6226T>A (p.Tyr2076Asn) c.6304T>A (p.Tyr2102Asn) c.6301T>A (p.Tyr2101Asn) c.6271T>A (p.Tyr2091Asn) n.6585T>A c.6283T>A (p.Tyr2095Asn) n.6618T>A | |
| 1 | g.237627914T>C | CA345410939 | RYR2 | c.6274T>C (p.Tyr2092His) c.6226T>C (p.Tyr2076His) c.6304T>C (p.Tyr2102His) c.6301T>C (p.Tyr2101His) c.6271T>C (p.Tyr2091His) n.6585T>C c.6283T>C (p.Tyr2095His) n.6618T>C | ClinVar |
| 1 | g.237627914T>G | CA345410944 | RYR2 | c.6274T>G (p.Tyr2092Asp) c.6226T>G (p.Tyr2076Asp) c.6304T>G (p.Tyr2102Asp) c.6301T>G (p.Tyr2101Asp) c.6271T>G (p.Tyr2091Asp) n.6585T>G c.6283T>G (p.Tyr2095Asp) n.6618T>G | |
| 1 | g.237627915A= | CA2487417987 | RYR2 | c.6275A= (p.Tyr2092=) c.6227A= (p.Tyr2076=) c.6305A= (p.Tyr2102=) c.6302A= (p.Tyr2101=) c.6272A= (p.Tyr2091=) n.6586A= c.6284A= (p.Tyr2095=) n.6619A= | |
| 1 | g.237627915A>C | CA345410950 | RYR2 | c.6275A>C (p.Tyr2092Ser) c.6227A>C (p.Tyr2076Ser) c.6305A>C (p.Tyr2102Ser) c.6302A>C (p.Tyr2101Ser) c.6272A>C (p.Tyr2091Ser) n.6586A>C c.6284A>C (p.Tyr2095Ser) n.6619A>C | |
| 1 | g.237627915A>G | CA345410954 | RYR2 | c.6275A>G (p.Tyr2092Cys) c.6227A>G (p.Tyr2076Cys) c.6305A>G (p.Tyr2102Cys) c.6302A>G (p.Tyr2101Cys) c.6272A>G (p.Tyr2091Cys) n.6586A>G c.6284A>G (p.Tyr2095Cys) n.6619A>G | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.237627915A>T | CA345410957 | RYR2 | c.6275A>T (p.Tyr2092Phe) c.6227A>T (p.Tyr2076Phe) c.6305A>T (p.Tyr2102Phe) c.6302A>T (p.Tyr2101Phe) c.6272A>T (p.Tyr2091Phe) n.6586A>T c.6284A>T (p.Tyr2095Phe) n.6619A>T | |
| 1 | g.237627916T>A | CA345410960 | RYR2 | c.6276T>A (p.Tyr2092Ter) c.6228T>A (p.Tyr2076Ter) c.6306T>A (p.Tyr2102Ter) c.6303T>A (p.Tyr2101Ter) c.6273T>A (p.Tyr2091Ter) n.6587T>A c.6285T>A (p.Tyr2095Ter) n.6620T>A | |
| 1 | g.237627916T>C | CA423821800 | RYR2 | c.6276T>C (p.Tyr2092=) c.6228T>C (p.Tyr2076=) c.6306T>C (p.Tyr2102=) c.6303T>C (p.Tyr2101=) c.6273T>C (p.Tyr2091=) n.6587T>C c.6285T>C (p.Tyr2095=) n.6620T>C | |
| 1 | g.237627916T>G | CA345410963 | RYR2 | c.6276T>G (p.Tyr2092Ter) c.6228T>G (p.Tyr2076Ter) c.6306T>G (p.Tyr2102Ter) c.6303T>G (p.Tyr2101Ter) c.6273T>G (p.Tyr2091Ter) n.6587T>G c.6285T>G (p.Tyr2095Ter) n.6620T>G | gnomAD v4 |
| 1 | g.237627917G>A | CA074811 | RYR2 | c.6277G>A (p.Asp2093Asn) c.6229G>A (p.Asp2077Asn) c.6307G>A (p.Asp2103Asn) c.6304G>A (p.Asp2102Asn) c.6274G>A (p.Asp2092Asn) n.6588G>A c.6286G>A (p.Asp2096Asn) n.6621G>A | |
| 1 | g.237627917G>C | CA345410970 | RYR2 | c.6277G>C (p.Asp2093His) c.6229G>C (p.Asp2077His) c.6307G>C (p.Asp2103His) c.6304G>C (p.Asp2102His) c.6274G>C (p.Asp2092His) n.6588G>C c.6286G>C (p.Asp2096His) n.6621G>C | |
| 1 | g.237627917G>T | CA345410972 | RYR2 | c.6277G>T (p.Asp2093Tyr) c.6229G>T (p.Asp2077Tyr) c.6307G>T (p.Asp2103Tyr) c.6304G>T (p.Asp2102Tyr) c.6274G>T (p.Asp2092Tyr) n.6588G>T c.6286G>T (p.Asp2096Tyr) n.6621G>T | |
| 1 | g.237627918A>C | CA345410977 | RYR2 | c.6278A>C (p.Asp2093Ala) c.6230A>C (p.Asp2077Ala) c.6308A>C (p.Asp2103Ala) c.6305A>C (p.Asp2102Ala) c.6275A>C (p.Asp2092Ala) n.6589A>C c.6287A>C (p.Asp2096Ala) n.6622A>C | |
| 1 | g.237627918A>G | CA345410980 | RYR2 | c.6278A>G (p.Asp2093Gly) c.6230A>G (p.Asp2077Gly) c.6308A>G (p.Asp2103Gly) c.6305A>G (p.Asp2102Gly) c.6275A>G (p.Asp2092Gly) n.6589A>G c.6287A>G (p.Asp2096Gly) n.6622A>G | |
| 1 | g.237627918A>T | CA345410982 | RYR2 | c.6278A>T (p.Asp2093Val) c.6230A>T (p.Asp2077Val) c.6308A>T (p.Asp2103Val) c.6305A>T (p.Asp2102Val) c.6275A>T (p.Asp2092Val) n.6589A>T c.6287A>T (p.Asp2096Val) n.6622A>T | |
| 1 | g.237627919C>A | CA087084 | RYR2 | c.6279C>A (p.Asp2093Glu) c.6231C>A (p.Asp2077Glu) c.6309C>A (p.Asp2103Glu) c.6306C>A (p.Asp2102Glu) c.6276C>A (p.Asp2092Glu) n.6590C>A c.6288C>A (p.Asp2096Glu) n.6623C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237627919C= | CA2487417988 | RYR2 | c.6279C= (p.Asp2093=) c.6231C= (p.Asp2077=) c.6309C= (p.Asp2103=) c.6306C= (p.Asp2102=) c.6276C= (p.Asp2092=) n.6590C= c.6288C= (p.Asp2096=) n.6623C= | |
| 1 | g.237627919C>G | CA345410987 | RYR2 | c.6279C>G (p.Asp2093Glu) c.6231C>G (p.Asp2077Glu) c.6309C>G (p.Asp2103Glu) c.6306C>G (p.Asp2102Glu) c.6276C>G (p.Asp2092Glu) n.6590C>G c.6288C>G (p.Asp2096Glu) n.6623C>G | |
| 1 | g.237627919C>T | CA423821807 | RYR2 | c.6279C>T (p.Asp2093=) c.6231C>T (p.Asp2077=) c.6309C>T (p.Asp2103=) c.6306C>T (p.Asp2102=) c.6276C>T (p.Asp2092=) n.6590C>T c.6288C>T (p.Asp2096=) n.6623C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237627920G>A | CA087085 | RYR2 | c.6280G>A (p.Gly2094Ser) c.6232G>A (p.Gly2078Ser) c.6310G>A (p.Gly2104Ser) c.6307G>A (p.Gly2103Ser) c.6277G>A (p.Gly2093Ser) n.6591G>A c.6289G>A (p.Gly2097Ser) n.6624G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237627920G>C | CA345410991 | RYR2 | c.6280G>C (p.Gly2094Arg) c.6232G>C (p.Gly2078Arg) c.6310G>C (p.Gly2104Arg) c.6307G>C (p.Gly2103Arg) c.6277G>C (p.Gly2093Arg) n.6591G>C c.6289G>C (p.Gly2097Arg) n.6624G>C | |
| 1 | g.237627920G= | CA2487417989 | RYR2 | c.6280G= (p.Gly2094=) c.6232G= (p.Gly2078=) c.6310G= (p.Gly2104=) c.6307G= (p.Gly2103=) c.6277G= (p.Gly2093=) n.6591G= c.6289G= (p.Gly2097=) n.6624G= | |
| 1 | g.237627920G>T | CA345410994 | RYR2 | c.6280G>T (p.Gly2094Cys) c.6232G>T (p.Gly2078Cys) c.6310G>T (p.Gly2104Cys) c.6307G>T (p.Gly2103Cys) c.6277G>T (p.Gly2093Cys) n.6591G>T c.6289G>T (p.Gly2097Cys) n.6624G>T | |
| 1 | g.237627921G>A | CA345410997 | RYR2 | c.6281G>A (p.Gly2094Asp) c.6233G>A (p.Gly2078Asp) c.6311G>A (p.Gly2104Asp) c.6308G>A (p.Gly2103Asp) c.6278G>A (p.Gly2093Asp) n.6592G>A c.6290G>A (p.Gly2097Asp) n.6625G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237627921G>C | CA345411000 | RYR2 | c.6281G>C (p.Gly2094Ala) c.6233G>C (p.Gly2078Ala) c.6311G>C (p.Gly2104Ala) c.6308G>C (p.Gly2103Ala) c.6278G>C (p.Gly2093Ala) n.6592G>C c.6290G>C (p.Gly2097Ala) n.6625G>C | |
| 1 | g.237627921G= | CA2487417990 | RYR2 | c.6281G= (p.Gly2094=) c.6233G= (p.Gly2078=) c.6311G= (p.Gly2104=) c.6308G= (p.Gly2103=) c.6278G= (p.Gly2093=) n.6592G= c.6290G= (p.Gly2097=) n.6625G= | |
| 1 | g.237627921G>T | CA345411002 | RYR2 | c.6281G>T (p.Gly2094Val) c.6233G>T (p.Gly2078Val) c.6311G>T (p.Gly2104Val) c.6308G>T (p.Gly2103Val) c.6278G>T (p.Gly2093Val) n.6592G>T c.6290G>T (p.Gly2097Val) n.6625G>T | |
| 1 | g.237627922C>A | CA423821813 | RYR2 | c.6282C>A (p.Gly2094=) c.6234C>A (p.Gly2078=) c.6312C>A (p.Gly2104=) c.6309C>A (p.Gly2103=) c.6279C>A (p.Gly2093=) n.6593C>A c.6291C>A (p.Gly2097=) n.6626C>A | |
| 1 | g.237627922C>G | CA423821815 | RYR2 | c.6282C>G (p.Gly2094=) c.6234C>G (p.Gly2078=) c.6312C>G (p.Gly2104=) c.6309C>G (p.Gly2103=) c.6279C>G (p.Gly2093=) n.6593C>G c.6291C>G (p.Gly2097=) n.6626C>G | |
| 1 | g.237627922C>T | CA423821814 | RYR2 | c.6282C>T (p.Gly2094=) c.6234C>T (p.Gly2078=) c.6312C>T (p.Gly2104=) c.6309C>T (p.Gly2103=) c.6279C>T (p.Gly2093=) n.6593C>T c.6291C>T (p.Gly2097=) n.6626C>T | |
| 1 | g.237627923A>C | CA345411007 | RYR2 | c.6283A>C (p.Ile2095Leu) c.6235A>C (p.Ile2079Leu) c.6313A>C (p.Ile2105Leu) c.6310A>C (p.Ile2104Leu) c.6280A>C (p.Ile2094Leu) n.6594A>C c.6292A>C (p.Ile2098Leu) n.6627A>C | |
| 1 | g.237627923A>G | CA345411009 | RYR2 | c.6283A>G (p.Ile2095Val) c.6235A>G (p.Ile2079Val) c.6313A>G (p.Ile2105Val) c.6310A>G (p.Ile2104Val) c.6280A>G (p.Ile2094Val) n.6594A>G c.6292A>G (p.Ile2098Val) n.6627A>G | |
| 1 | g.237627923A>T | CA345411014 | RYR2 | c.6283A>T (p.Ile2095Phe) c.6235A>T (p.Ile2079Phe) c.6313A>T (p.Ile2105Phe) c.6310A>T (p.Ile2104Phe) c.6280A>T (p.Ile2094Phe) n.6594A>T c.6292A>T (p.Ile2098Phe) n.6627A>T | |
| 1 | g.237627924T>A | CA345411018 | RYR2 | c.6284T>A (p.Ile2095Asn) c.6236T>A (p.Ile2079Asn) c.6314T>A (p.Ile2105Asn) c.6311T>A (p.Ile2104Asn) c.6281T>A (p.Ile2094Asn) n.6595T>A c.6293T>A (p.Ile2098Asn) n.6628T>A | |
| 1 | g.237627924T>C | CA087086 | RYR2 | c.6284T>C (p.Ile2095Thr) c.6236T>C (p.Ile2079Thr) c.6314T>C (p.Ile2105Thr) c.6311T>C (p.Ile2104Thr) c.6281T>C (p.Ile2094Thr) n.6595T>C c.6293T>C (p.Ile2098Thr) n.6628T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237627924T>G | CA345411027 | RYR2 | c.6284T>G (p.Ile2095Ser) c.6236T>G (p.Ile2079Ser) c.6314T>G (p.Ile2105Ser) c.6311T>G (p.Ile2104Ser) c.6281T>G (p.Ile2094Ser) n.6595T>G c.6293T>G (p.Ile2098Ser) n.6628T>G | |
| 1 | g.237627924T= | CA1141871225 | RYR2 | c.6284T= (p.Ile2095=) c.6236T= (p.Ile2079=) c.6314T= (p.Ile2105=) c.6311T= (p.Ile2104=) c.6281T= (p.Ile2094=) n.6595T= c.6293T= (p.Ile2098=) n.6628T= | |
| 1 | g.237627925T>A | CA423821820 | RYR2 | c.6285T>A (p.Ile2095=) c.6237T>A (p.Ile2079=) c.6315T>A (p.Ile2105=) c.6312T>A (p.Ile2104=) c.6282T>A (p.Ile2094=) n.6596T>A c.6294T>A (p.Ile2098=) n.6629T>A | |
| 1 | g.237627925T>C | CA423821821 | RYR2 | c.6285T>C (p.Ile2095=) c.6237T>C (p.Ile2079=) c.6315T>C (p.Ile2105=) c.6312T>C (p.Ile2104=) c.6282T>C (p.Ile2094=) n.6596T>C c.6294T>C (p.Ile2098=) n.6629T>C | |
| 1 | g.237627925T>G | CA345411030 | RYR2 | c.6285T>G (p.Ile2095Met) c.6237T>G (p.Ile2079Met) c.6315T>G (p.Ile2105Met) c.6312T>G (p.Ile2104Met) c.6282T>G (p.Ile2094Met) n.6596T>G c.6294T>G (p.Ile2098Met) n.6629T>G | |
| 1 | g.237627926G>A | CA345411035 | RYR2 | c.6286G>A (p.Gly2096Arg) c.6238G>A (p.Gly2080Arg) c.6316G>A (p.Gly2106Arg) c.6313G>A (p.Gly2105Arg) c.6283G>A (p.Gly2095Arg) n.6597G>A c.6295G>A (p.Gly2099Arg) n.6630G>A | |
| 1 | g.237627926G>C | CA345411044 | RYR2 | c.6286G>C (p.Gly2096Arg) c.6238G>C (p.Gly2080Arg) c.6316G>C (p.Gly2106Arg) c.6313G>C (p.Gly2105Arg) c.6283G>C (p.Gly2095Arg) n.6597G>C c.6295G>C (p.Gly2099Arg) n.6630G>C | |
| 1 | g.237627926G>T | CA345411040 | RYR2 | c.6286G>T (p.Gly2096Trp) c.6238G>T (p.Gly2080Trp) c.6316G>T (p.Gly2106Trp) c.6313G>T (p.Gly2105Trp) c.6283G>T (p.Gly2095Trp) n.6597G>T c.6295G>T (p.Gly2099Trp) n.6630G>T | |
| 1 | g.237627927G>A | CA074815 | RYR2 | c.6287G>A (p.Gly2096Glu) c.6239G>A (p.Gly2080Glu) c.6317G>A (p.Gly2106Glu) c.6314G>A (p.Gly2105Glu) c.6284G>A (p.Gly2095Glu) n.6598G>A c.6296G>A (p.Gly2099Glu) n.6631G>A | gnomAD v4 |
| 1 | g.237627927G>C | CA345411054 | RYR2 | c.6287G>C (p.Gly2096Ala) c.6239G>C (p.Gly2080Ala) c.6317G>C (p.Gly2106Ala) c.6314G>C (p.Gly2105Ala) c.6284G>C (p.Gly2095Ala) n.6598G>C c.6296G>C (p.Gly2099Ala) n.6631G>C | |
| 1 | g.237627927G>T | CA345411051 | RYR2 | c.6287G>T (p.Gly2096Val) c.6239G>T (p.Gly2080Val) c.6317G>T (p.Gly2106Val) c.6314G>T (p.Gly2105Val) c.6284G>T (p.Gly2095Val) n.6598G>T c.6296G>T (p.Gly2099Val) n.6631G>T | |
| 1 | g.237627928G>A | CA423821824 | RYR2 | c.6288G>A (p.Gly2096=) c.6240G>A (p.Gly2080=) c.6318G>A (p.Gly2106=) c.6315G>A (p.Gly2105=) c.6285G>A (p.Gly2095=) n.6599G>A c.6297G>A (p.Gly2099=) n.6632G>A | dbSNP COSMIC COSMIC |
| 1 | g.237627928G>C | CA423821825 | RYR2 | c.6288G>C (p.Gly2096=) c.6240G>C (p.Gly2080=) c.6318G>C (p.Gly2106=) c.6315G>C (p.Gly2105=) c.6285G>C (p.Gly2095=) n.6599G>C c.6297G>C (p.Gly2099=) n.6632G>C | |
| 1 | g.237627928G= | CA2487417991 | RYR2 | c.6288G= (p.Gly2096=) c.6240G= (p.Gly2080=) c.6318G= (p.Gly2106=) c.6315G= (p.Gly2105=) c.6285G= (p.Gly2095=) n.6599G= c.6297G= (p.Gly2099=) n.6632G= | |
| 1 | g.237627928G>T | CA423821826 | RYR2 | c.6288G>T (p.Gly2096=) c.6240G>T (p.Gly2080=) c.6318G>T (p.Gly2106=) c.6315G>T (p.Gly2105=) c.6285G>T (p.Gly2095=) n.6599G>T c.6297G>T (p.Gly2099=) n.6632G>T | gnomAD v4 |
| 1 | g.237627929G>A | CA345411059 | RYR2 | c.6289G>A (p.Gly2097Ser) c.6241G>A (p.Gly2081Ser) c.6319G>A (p.Gly2107Ser) c.6316G>A (p.Gly2106Ser) c.6286G>A (p.Gly2096Ser) n.6600G>A c.6298G>A (p.Gly2100Ser) n.6633G>A | |
| 1 | g.237627929G>C | CA345411060 | RYR2 | c.6289G>C (p.Gly2097Arg) c.6241G>C (p.Gly2081Arg) c.6319G>C (p.Gly2107Arg) c.6316G>C (p.Gly2106Arg) c.6286G>C (p.Gly2096Arg) n.6600G>C c.6298G>C (p.Gly2100Arg) n.6633G>C | |
| 1 | g.237627929G>T | CA345411063 | RYR2 | c.6289G>T (p.Gly2097Cys) c.6241G>T (p.Gly2081Cys) c.6319G>T (p.Gly2107Cys) c.6316G>T (p.Gly2106Cys) c.6286G>T (p.Gly2096Cys) n.6600G>T c.6298G>T (p.Gly2100Cys) n.6633G>T | ClinVar gnomAD v4 |
| 1 | g.237627930G>A | CA345411067 | RYR2 | c.6290G>A (p.Gly2097Asp) c.6242G>A (p.Gly2081Asp) c.6320G>A (p.Gly2107Asp) c.6317G>A (p.Gly2106Asp) c.6287G>A (p.Gly2096Asp) n.6601G>A c.6299G>A (p.Gly2100Asp) n.6634G>A | gnomAD v4 |
| 1 | g.237627930G>C | CA345411070 | RYR2 | c.6290G>C (p.Gly2097Ala) c.6242G>C (p.Gly2081Ala) c.6320G>C (p.Gly2107Ala) c.6317G>C (p.Gly2106Ala) c.6287G>C (p.Gly2096Ala) n.6601G>C c.6299G>C (p.Gly2100Ala) n.6634G>C | |
| 1 | g.237627930G>T | CA345411071 | RYR2 | c.6290G>T (p.Gly2097Val) c.6242G>T (p.Gly2081Val) c.6320G>T (p.Gly2107Val) c.6317G>T (p.Gly2106Val) c.6287G>T (p.Gly2096Val) n.6601G>T c.6299G>T (p.Gly2100Val) n.6634G>T | gnomAD v4 |
| 1 | g.237627931T>A | CA423821833 | RYR2 | c.6291T>A (p.Gly2097=) c.6243T>A (p.Gly2081=) c.6321T>A (p.Gly2107=) c.6318T>A (p.Gly2106=) c.6288T>A (p.Gly2096=) n.6602T>A c.6300T>A (p.Gly2100=) n.6635T>A | |
| 1 | g.237627931T>C | CA423821834 | RYR2 | c.6291T>C (p.Gly2097=) c.6243T>C (p.Gly2081=) c.6321T>C (p.Gly2107=) c.6318T>C (p.Gly2106=) c.6288T>C (p.Gly2096=) n.6602T>C c.6300T>C (p.Gly2100=) n.6635T>C | |
| 1 | g.237627931T>G | CA423821832 | RYR2 | c.6291T>G (p.Gly2097=) c.6243T>G (p.Gly2081=) c.6321T>G (p.Gly2107=) c.6318T>G (p.Gly2106=) c.6288T>G (p.Gly2096=) n.6602T>G c.6300T>G (p.Gly2100=) n.6635T>G | dbSNP |
| 1 | g.237627931T= | CA2487417992 | RYR2 | c.6291T= (p.Gly2097=) c.6243T= (p.Gly2081=) c.6321T= (p.Gly2107=) c.6318T= (p.Gly2106=) c.6288T= (p.Gly2096=) n.6602T= c.6300T= (p.Gly2100=) n.6635T= | |
| 1 | g.237627932C>A | CA345411074 | RYR2 | c.6292C>A (p.Leu2098Ile) c.6244C>A (p.Leu2082Ile) c.6322C>A (p.Leu2108Ile) c.6319C>A (p.Leu2107Ile) c.6289C>A (p.Leu2097Ile) n.6603C>A c.6301C>A (p.Leu2101Ile) n.6636C>A | |
| 1 | g.237627932C>G | CA345411075 | RYR2 | c.6292C>G (p.Leu2098Val) c.6244C>G (p.Leu2082Val) c.6322C>G (p.Leu2108Val) c.6319C>G (p.Leu2107Val) c.6289C>G (p.Leu2097Val) n.6603C>G c.6301C>G (p.Leu2101Val) n.6636C>G | |
| 1 | g.237627932C>T | CA345411078 | RYR2 | c.6292C>T (p.Leu2098Phe) c.6244C>T (p.Leu2082Phe) c.6322C>T (p.Leu2108Phe) c.6319C>T (p.Leu2107Phe) c.6289C>T (p.Leu2097Phe) n.6603C>T c.6301C>T (p.Leu2101Phe) n.6636C>T | COSMIC COSMIC |
| 1 | g.237627933T>A | CA345411082 | RYR2 | c.6293T>A (p.Leu2098His) c.6245T>A (p.Leu2082His) c.6323T>A (p.Leu2108His) c.6320T>A (p.Leu2107His) c.6290T>A (p.Leu2097His) n.6604T>A c.6302T>A (p.Leu2101His) n.6637T>A | |
| 1 | g.237627933T>C | CA345411085 | RYR2 | c.6293T>C (p.Leu2098Pro) c.6245T>C (p.Leu2082Pro) c.6323T>C (p.Leu2108Pro) c.6320T>C (p.Leu2107Pro) c.6290T>C (p.Leu2097Pro) n.6604T>C c.6302T>C (p.Leu2101Pro) n.6637T>C | |
| 1 | g.237627933T>G | CA345411087 | RYR2 | c.6293T>G (p.Leu2098Arg) c.6245T>G (p.Leu2082Arg) c.6323T>G (p.Leu2108Arg) c.6320T>G (p.Leu2107Arg) c.6290T>G (p.Leu2097Arg) n.6604T>G c.6302T>G (p.Leu2101Arg) n.6637T>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.237627934T>A | CA423821839 | RYR2 | c.6294T>A (p.Leu2098=) c.6246T>A (p.Leu2082=) c.6324T>A (p.Leu2108=) c.6321T>A (p.Leu2107=) c.6291T>A (p.Leu2097=) n.6605T>A c.6303T>A (p.Leu2101=) n.6638T>A | gnomAD v4 |
| 1 | g.237627934T>C | CA423821840 | RYR2 | c.6294T>C (p.Leu2098=) c.6246T>C (p.Leu2082=) c.6324T>C (p.Leu2108=) c.6321T>C (p.Leu2107=) c.6291T>C (p.Leu2097=) n.6605T>C c.6303T>C (p.Leu2101=) n.6638T>C | |
| 1 | g.237627934T>G | CA423821841 | RYR2 | c.6294T>G (p.Leu2098=) c.6246T>G (p.Leu2082=) c.6324T>G (p.Leu2108=) c.6321T>G (p.Leu2107=) c.6291T>G (p.Leu2097=) n.6605T>G c.6303T>G (p.Leu2101=) n.6638T>G | |
| 1 | g.237627935G>A | CA087087 | RYR2 | c.6295G>A (p.Val2099Ile) c.6247G>A (p.Val2083Ile) c.6325G>A (p.Val2109Ile) c.6322G>A (p.Val2108Ile) c.6292G>A (p.Val2098Ile) n.6606G>A c.6304G>A (p.Val2102Ile) n.6639G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237627935G>C | CA345411090 | RYR2 | c.6295G>C (p.Val2099Leu) c.6247G>C (p.Val2083Leu) c.6325G>C (p.Val2109Leu) c.6322G>C (p.Val2108Leu) c.6292G>C (p.Val2098Leu) n.6606G>C c.6304G>C (p.Val2102Leu) n.6639G>C | |
| 1 | g.237627935G= | CA2487417993 | RYR2 | c.6295G= (p.Val2099=) c.6247G= (p.Val2083=) c.6325G= (p.Val2109=) c.6322G= (p.Val2108=) c.6292G= (p.Val2098=) n.6606G= c.6304G= (p.Val2102=) n.6639G= | |
| 1 | g.237627935G>T | CA345411093 | RYR2 | c.6295G>T (p.Val2099Phe) c.6247G>T (p.Val2083Phe) c.6325G>T (p.Val2109Phe) c.6322G>T (p.Val2108Phe) c.6292G>T (p.Val2098Phe) n.6606G>T c.6304G>T (p.Val2102Phe) n.6639G>T | gnomAD v4 |
| 1 | g.237627936T>A | CA345411099 | RYR2 | c.6296T>A (p.Val2099Asp) c.6248T>A (p.Val2083Asp) c.6326T>A (p.Val2109Asp) c.6323T>A (p.Val2108Asp) c.6293T>A (p.Val2098Asp) n.6607T>A c.6305T>A (p.Val2102Asp) n.6640T>A | |
| 1 | g.237627936T>C | CA074822 | RYR2 | c.6296T>C (p.Val2099Ala) c.6248T>C (p.Val2083Ala) c.6326T>C (p.Val2109Ala) c.6323T>C (p.Val2108Ala) c.6293T>C (p.Val2098Ala) n.6607T>C c.6305T>C (p.Val2102Ala) n.6640T>C | |
| 1 | g.237627936T>G | CA345411105 | RYR2 | c.6296T>G (p.Val2099Gly) c.6248T>G (p.Val2083Gly) c.6326T>G (p.Val2109Gly) c.6323T>G (p.Val2108Gly) c.6293T>G (p.Val2098Gly) n.6607T>G c.6305T>G (p.Val2102Gly) n.6640T>G | |
| 1 | g.237627937T>A | CA423821847 | RYR2 | c.6297T>A (p.Val2099=) c.6249T>A (p.Val2083=) c.6327T>A (p.Val2109=) c.6324T>A (p.Val2108=) c.6294T>A (p.Val2098=) n.6608T>A c.6306T>A (p.Val2102=) n.6641T>A | gnomAD v4 |
| 1 | g.237627937T>C | CA423821849 | RYR2 | c.6297T>C (p.Val2099=) c.6249T>C (p.Val2083=) c.6327T>C (p.Val2109=) c.6324T>C (p.Val2108=) c.6294T>C (p.Val2098=) n.6608T>C c.6306T>C (p.Val2102=) n.6641T>C | |
| 1 | g.237627937T>G | CA423821850 | RYR2 | c.6297T>G (p.Val2099=) c.6249T>G (p.Val2083=) c.6327T>G (p.Val2109=) c.6324T>G (p.Val2108=) c.6294T>G (p.Val2098=) n.6608T>G c.6306T>G (p.Val2102=) n.6641T>G | |
| 1 | g.237627938C>A | CA423821851 | RYR2 | c.6298C>A (p.Arg2100=) c.6250C>A (p.Arg2084=) c.6328C>A (p.Arg2110=) c.6325C>A (p.Arg2109=) c.6295C>A (p.Arg2099=) n.6609C>A c.6307C>A (p.Arg2103=) n.6642C>A | ClinVar dbSNP |
| 1 | g.237627938C= | CA2487417994 | RYR2 | c.6298C= (p.Arg2100=) c.6250C= (p.Arg2084=) c.6328C= (p.Arg2110=) c.6325C= (p.Arg2109=) c.6295C= (p.Arg2099=) n.6609C= c.6307C= (p.Arg2103=) n.6642C= | |
| 1 | g.237627938C>G | CA345411109 | RYR2 | c.6298C>G (p.Arg2100Gly) c.6250C>G (p.Arg2084Gly) c.6328C>G (p.Arg2110Gly) c.6325C>G (p.Arg2109Gly) c.6295C>G (p.Arg2099Gly) n.6609C>G c.6307C>G (p.Arg2103Gly) n.6642C>G | |
| 1 | g.237627938C>T | CA087088 | RYR2 | c.6298C>T (p.Arg2100Trp) c.6250C>T (p.Arg2084Trp) c.6328C>T (p.Arg2110Trp) c.6325C>T (p.Arg2109Trp) c.6295C>T (p.Arg2099Trp) n.6609C>T c.6307C>T (p.Arg2103Trp) n.6642C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237627938_237627939delinsCG | CA2487417995 | RYR2 | c.6298_6299delinsCG (p.Arg2100=) c.6250_6251delinsCG (p.Arg2084=) c.6328_6329delinsCG (p.Arg2110=) c.6325_6326delinsCG (p.Arg2109=) c.6295_6296delinsCG (p.Arg2099=) n.6609_6610delinsCG c.6307_6308delinsCG (p.Arg2103=) n.6642_6643delinsCG | |
| 1 | g.237627939G>A | CA16603260 | RYR2 | c.6299G>A (p.Arg2100Gln) c.6251G>A (p.Arg2084Gln) c.6329G>A (p.Arg2110Gln) c.6326G>A (p.Arg2109Gln) c.6296G>A (p.Arg2099Gln) n.6610G>A c.6308G>A (p.Arg2103Gln) n.6643G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237627939G>C | CA345411116 | RYR2 | c.6299G>C (p.Arg2100Pro) c.6251G>C (p.Arg2084Pro) c.6329G>C (p.Arg2110Pro) c.6326G>C (p.Arg2109Pro) c.6296G>C (p.Arg2099Pro) n.6610G>C c.6308G>C (p.Arg2103Pro) n.6643G>C | |
| 1 | g.237627939G= | CA2487417997 | RYR2 | c.6299G= (p.Arg2100=) c.6251G= (p.Arg2084=) c.6329G= (p.Arg2110=) c.6326G= (p.Arg2109=) c.6296G= (p.Arg2099=) n.6610G= c.6308G= (p.Arg2103=) n.6643G= | |
| 1 | g.237627939G>T | CA345411119 | RYR2 | c.6299G>T (p.Arg2100Leu) c.6251G>T (p.Arg2084Leu) c.6329G>T (p.Arg2110Leu) c.6326G>T (p.Arg2109Leu) c.6296G>T (p.Arg2099Leu) n.6610G>T c.6308G>T (p.Arg2103Leu) n.6643G>T | |
| 1 | g.237627941del | CA2487417996 | RYR2 | c.6301del (p.Ala2101ProfsTer8) c.6253del (p.Ala2085ProfsTer8) c.6331del (p.Ala2111ProfsTer8) c.6328del (p.Ala2110ProfsTer8) c.6298del (p.Ala2100ProfsTer8) n.6612del c.6310del (p.Ala2104ProfsTer8) n.6645del | dbSNP |
| 1 | g.237627940G>A | CA423821853 | RYR2 | c.6300G>A (p.Arg2100=) c.6252G>A (p.Arg2084=) c.6330G>A (p.Arg2110=) c.6327G>A (p.Arg2109=) c.6297G>A (p.Arg2099=) n.6611G>A c.6309G>A (p.Arg2103=) n.6644G>A | gnomAD v4 |
| 1 | g.237627940G>C | CA423821855 | RYR2 | c.6300G>C (p.Arg2100=) c.6252G>C (p.Arg2084=) c.6330G>C (p.Arg2110=) c.6327G>C (p.Arg2109=) c.6297G>C (p.Arg2099=) n.6611G>C c.6309G>C (p.Arg2103=) n.6644G>C | |
| 1 | g.237627940G>T | CA423821856 | RYR2 | c.6300G>T (p.Arg2100=) c.6252G>T (p.Arg2084=) c.6330G>T (p.Arg2110=) c.6327G>T (p.Arg2109=) c.6297G>T (p.Arg2099=) n.6611G>T c.6309G>T (p.Arg2103=) n.6644G>T | gnomAD v4 |
| 1 | g.237627941G>A | CA345411125 | RYR2 | c.6301G>A (p.Ala2101Thr) c.6253G>A (p.Ala2085Thr) c.6331G>A (p.Ala2111Thr) c.6328G>A (p.Ala2110Thr) c.6298G>A (p.Ala2100Thr) n.6612G>A c.6310G>A (p.Ala2104Thr) n.6645G>A | gnomAD v4 |
| 1 | g.237627941G>C | CA345411127 | RYR2 | c.6301G>C (p.Ala2101Pro) c.6253G>C (p.Ala2085Pro) c.6331G>C (p.Ala2111Pro) c.6328G>C (p.Ala2110Pro) c.6298G>C (p.Ala2100Pro) n.6612G>C c.6310G>C (p.Ala2104Pro) n.6645G>C | |
| 1 | g.237627941G= | CA2487417998 | RYR2 | c.6301G= (p.Ala2101=) c.6253G= (p.Ala2085=) c.6331G= (p.Ala2111=) c.6328G= (p.Ala2110=) c.6298G= (p.Ala2100=) n.6612G= c.6310G= (p.Ala2104=) n.6645G= | |
| 1 | g.237627941G>T | CA345411131 | RYR2 | c.6301G>T (p.Ala2101Ser) c.6253G>T (p.Ala2085Ser) c.6331G>T (p.Ala2111Ser) c.6328G>T (p.Ala2110Ser) c.6298G>T (p.Ala2100Ser) n.6612G>T c.6310G>T (p.Ala2104Ser) n.6645G>T | dbSNP |
| 1 | g.237627942C>A | CA345411141 | RYR2 | c.6302C>A (p.Ala2101Asp) c.6254C>A (p.Ala2085Asp) c.6332C>A (p.Ala2111Asp) c.6329C>A (p.Ala2110Asp) c.6299C>A (p.Ala2100Asp) n.6613C>A c.6311C>A (p.Ala2104Asp) n.6646C>A | COSMIC COSMIC |
| 1 | g.237627942C>G | CA345411138 | RYR2 | c.6302C>G (p.Ala2101Gly) c.6254C>G (p.Ala2085Gly) c.6332C>G (p.Ala2111Gly) c.6329C>G (p.Ala2110Gly) c.6299C>G (p.Ala2100Gly) n.6613C>G c.6311C>G (p.Ala2104Gly) n.6646C>G | |
| 1 | g.237627942C>T | CA345411136 | RYR2 | c.6302C>T (p.Ala2101Val) c.6254C>T (p.Ala2085Val) c.6332C>T (p.Ala2111Val) c.6329C>T (p.Ala2110Val) c.6299C>T (p.Ala2100Val) n.6613C>T c.6311C>T (p.Ala2104Val) n.6646C>T | ClinVar dbSNP |
| 1 | g.237627943C>A | CA423821858 | RYR2 | c.6303C>A (p.Ala2101=) c.6255C>A (p.Ala2085=) c.6333C>A (p.Ala2111=) c.6330C>A (p.Ala2110=) c.6300C>A (p.Ala2100=) n.6614C>A c.6312C>A (p.Ala2104=) n.6647C>A | COSMIC COSMIC |
| 1 | g.237627943C>G | CA423821859 | RYR2 | c.6303C>G (p.Ala2101=) c.6255C>G (p.Ala2085=) c.6333C>G (p.Ala2111=) c.6330C>G (p.Ala2110=) c.6300C>G (p.Ala2100=) n.6614C>G c.6312C>G (p.Ala2104=) n.6647C>G | |
| 1 | g.237627943C>T | CA423821860 | RYR2 | c.6303C>T (p.Ala2101=) c.6255C>T (p.Ala2085=) c.6333C>T (p.Ala2111=) c.6330C>T (p.Ala2110=) c.6300C>T (p.Ala2100=) n.6614C>T c.6312C>T (p.Ala2104=) n.6647C>T | |
| 1 | g.237627944C>A | CA345411146 | RYR2 | c.6304C>A (p.Leu2102Met) c.6256C>A (p.Leu2086Met) c.6334C>A (p.Leu2112Met) c.6331C>A (p.Leu2111Met) c.6301C>A (p.Leu2101Met) n.6615C>A c.6313C>A (p.Leu2105Met) n.6648C>A | |
| 1 | g.237627944C>G | CA345411147 | RYR2 | c.6304C>G (p.Leu2102Val) c.6256C>G (p.Leu2086Val) c.6334C>G (p.Leu2112Val) c.6331C>G (p.Leu2111Val) c.6301C>G (p.Leu2101Val) n.6615C>G c.6313C>G (p.Leu2105Val) n.6648C>G | |
| 1 | g.237627944C>T | CA423821863 | RYR2 | c.6304C>T (p.Leu2102=) c.6256C>T (p.Leu2086=) c.6334C>T (p.Leu2112=) c.6331C>T (p.Leu2111=) c.6301C>T (p.Leu2101=) n.6615C>T c.6313C>T (p.Leu2105=) n.6648C>T | dbSNP |
| 1 | g.237627945T>A | CA345411152 | RYR2 | c.6305T>A (p.Leu2102Gln) c.6257T>A (p.Leu2086Gln) c.6335T>A (p.Leu2112Gln) c.6332T>A (p.Leu2111Gln) c.6302T>A (p.Leu2101Gln) n.6616T>A c.6314T>A (p.Leu2105Gln) n.6649T>A | |
| 1 | g.237627945T>C | CA345411154 | RYR2 | c.6305T>C (p.Leu2102Pro) c.6257T>C (p.Leu2086Pro) c.6335T>C (p.Leu2112Pro) c.6332T>C (p.Leu2111Pro) c.6302T>C (p.Leu2101Pro) n.6616T>C c.6314T>C (p.Leu2105Pro) n.6649T>C | |
| 1 | g.237627945T>G | CA345411157 | RYR2 | c.6305T>G (p.Leu2102Arg) c.6257T>G (p.Leu2086Arg) c.6335T>G (p.Leu2112Arg) c.6332T>G (p.Leu2111Arg) c.6302T>G (p.Leu2101Arg) n.6616T>G c.6314T>G (p.Leu2105Arg) n.6649T>G | |
| 1 | g.237627946G>A | CA423821867 | RYR2 | c.6306G>A (p.Leu2102=) c.6258G>A (p.Leu2086=) c.6336G>A (p.Leu2112=) c.6333G>A (p.Leu2111=) c.6303G>A (p.Leu2101=) n.6617G>A c.6315G>A (p.Leu2105=) n.6650G>A | |
| 1 | g.237627946G>C | CA423821868 | RYR2 | c.6306G>C (p.Leu2102=) c.6258G>C (p.Leu2086=) c.6336G>C (p.Leu2112=) c.6333G>C (p.Leu2111=) c.6303G>C (p.Leu2101=) n.6617G>C c.6315G>C (p.Leu2105=) n.6650G>C | gnomAD v4 |
| 1 | g.237627946G>T | CA423821869 | RYR2 | c.6306G>T (p.Leu2102=) c.6258G>T (p.Leu2086=) c.6336G>T (p.Leu2112=) c.6333G>T (p.Leu2111=) c.6303G>T (p.Leu2101=) n.6617G>T c.6315G>T (p.Leu2105=) n.6650G>T | COSMIC COSMIC |
| 1 | g.237627947C>A | CA345411168 | RYR2 | c.6307C>A (p.Pro2103Thr) c.6259C>A (p.Pro2087Thr) c.6337C>A (p.Pro2113Thr) c.6334C>A (p.Pro2112Thr) c.6304C>A (p.Pro2102Thr) n.6618C>A c.6316C>A (p.Pro2106Thr) n.6651C>A | |
| 1 | g.237627947C= | CA2487417999 | RYR2 | c.6307C= (p.Pro2103=) c.6259C= (p.Pro2087=) c.6337C= (p.Pro2113=) c.6334C= (p.Pro2112=) c.6304C= (p.Pro2102=) n.6618C= c.6316C= (p.Pro2106=) n.6651C= | |
| 1 | g.237627947C>G | CA345411165 | RYR2 | c.6307C>G (p.Pro2103Ala) c.6259C>G (p.Pro2087Ala) c.6337C>G (p.Pro2113Ala) c.6334C>G (p.Pro2112Ala) c.6304C>G (p.Pro2102Ala) n.6618C>G c.6316C>G (p.Pro2106Ala) n.6651C>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.237627947C>T | CA345411162 | RYR2 | c.6307C>T (p.Pro2103Ser) c.6259C>T (p.Pro2087Ser) c.6337C>T (p.Pro2113Ser) c.6334C>T (p.Pro2112Ser) c.6304C>T (p.Pro2102Ser) n.6618C>T c.6316C>T (p.Pro2106Ser) n.6651C>T | |
| 1 | g.237627948C>A | CA345411172 | RYR2 | c.6308C>A (p.Pro2103Gln) c.6260C>A (p.Pro2087Gln) c.6338C>A (p.Pro2113Gln) c.6335C>A (p.Pro2112Gln) c.6305C>A (p.Pro2102Gln) n.6619C>A c.6317C>A (p.Pro2106Gln) n.6652C>A | |
| 1 | g.237627948C>G | CA345411175 | RYR2 | c.6308C>G (p.Pro2103Arg) c.6260C>G (p.Pro2087Arg) c.6338C>G (p.Pro2113Arg) c.6335C>G (p.Pro2112Arg) c.6305C>G (p.Pro2102Arg) n.6619C>G c.6317C>G (p.Pro2106Arg) n.6652C>G | |
| 1 | g.237627948C>T | CA345411177 | RYR2 | c.6308C>T (p.Pro2103Leu) c.6260C>T (p.Pro2087Leu) c.6338C>T (p.Pro2113Leu) c.6335C>T (p.Pro2112Leu) c.6305C>T (p.Pro2102Leu) n.6619C>T c.6317C>T (p.Pro2106Leu) n.6652C>T | gnomAD v4 |
| 1 | g.237627949A>C | CA423821871 | RYR2 | c.6309A>C (p.Pro2103=) c.6261A>C (p.Pro2087=) c.6339A>C (p.Pro2113=) c.6336A>C (p.Pro2112=) c.6306A>C (p.Pro2102=) n.6620A>C c.6318A>C (p.Pro2106=) n.6653A>C | |
| 1 | g.237627949A>G | CA423821872 | RYR2 | c.6309A>G (p.Pro2103=) c.6261A>G (p.Pro2087=) c.6339A>G (p.Pro2113=) c.6336A>G (p.Pro2112=) c.6306A>G (p.Pro2102=) n.6620A>G c.6318A>G (p.Pro2106=) n.6653A>G | gnomAD v4 |
| 1 | g.237627949A>T | CA423821873 | RYR2 | c.6309A>T (p.Pro2103=) c.6261A>T (p.Pro2087=) c.6339A>T (p.Pro2113=) c.6336A>T (p.Pro2112=) c.6306A>T (p.Pro2102=) n.6620A>T c.6318A>T (p.Pro2106=) n.6653A>T | |
| 1 | g.237627950A>C | CA345411181 | RYR2 | c.6310A>C (p.Lys2104Gln) c.6262A>C (p.Lys2088Gln) c.6340A>C (p.Lys2114Gln) c.6337A>C (p.Lys2113Gln) c.6307A>C (p.Lys2103Gln) n.6621A>C c.6319A>C (p.Lys2107Gln) n.6654A>C | ClinVar dbSNP |
| 1 | g.237627950A>G | CA345411184 | RYR2 | c.6310A>G (p.Lys2104Glu) c.6262A>G (p.Lys2088Glu) c.6340A>G (p.Lys2114Glu) c.6337A>G (p.Lys2113Glu) c.6307A>G (p.Lys2103Glu) n.6621A>G c.6319A>G (p.Lys2107Glu) n.6654A>G | |
| 1 | g.237627950A>T | CA345411186 | RYR2 | c.6310A>T (p.Lys2104Ter) c.6262A>T (p.Lys2088Ter) c.6340A>T (p.Lys2114Ter) c.6337A>T (p.Lys2113Ter) c.6307A>T (p.Lys2103Ter) n.6621A>T c.6319A>T (p.Lys2107Ter) n.6654A>T | |
| 1 | g.237627951A>C | CA345411191 | RYR2 | c.6311A>C (p.Lys2104Thr) c.6263A>C (p.Lys2088Thr) c.6341A>C (p.Lys2114Thr) c.6338A>C (p.Lys2113Thr) c.6308A>C (p.Lys2103Thr) n.6622A>C c.6320A>C (p.Lys2107Thr) n.6655A>C | |
| 1 | g.237627951A>G | CA345411198 | RYR2 | c.6311A>G (p.Lys2104Arg) c.6263A>G (p.Lys2088Arg) c.6341A>G (p.Lys2114Arg) c.6338A>G (p.Lys2113Arg) c.6308A>G (p.Lys2103Arg) n.6622A>G c.6320A>G (p.Lys2107Arg) n.6655A>G | |
| 1 | g.237627951A>T | CA345411195 | RYR2 | c.6311A>T (p.Lys2104Met) c.6263A>T (p.Lys2088Met) c.6341A>T (p.Lys2114Met) c.6338A>T (p.Lys2113Met) c.6308A>T (p.Lys2103Met) n.6622A>T c.6320A>T (p.Lys2107Met) n.6655A>T | |
| 1 | g.237627952G>A | CA423821875 | RYR2 | c.6312G>A (p.Lys2104=) c.6264G>A (p.Lys2088=) c.6342G>A (p.Lys2114=) c.6339G>A (p.Lys2113=) c.6309G>A (p.Lys2103=) n.6623G>A c.6321G>A (p.Lys2107=) n.6656G>A | |
| 1 | g.237627952G>C | CA345411203 | RYR2 | c.6312G>C (p.Lys2104Asn) c.6264G>C (p.Lys2088Asn) c.6342G>C (p.Lys2114Asn) c.6339G>C (p.Lys2113Asn) c.6309G>C (p.Lys2103Asn) n.6623G>C c.6321G>C (p.Lys2107Asn) n.6656G>C | |
| 1 | g.237627952G>T | CA345411206 | RYR2 | c.6312G>T (p.Lys2104Asn) c.6264G>T (p.Lys2088Asn) c.6342G>T (p.Lys2114Asn) c.6339G>T (p.Lys2113Asn) c.6309G>T (p.Lys2103Asn) n.6623G>T c.6321G>T (p.Lys2107Asn) n.6656G>T | |
| 1 | g.237627953A>C | CA345411211 | RYR2 | c.6313A>C (p.Thr2105Pro) c.6265A>C (p.Thr2089Pro) c.6343A>C (p.Thr2115Pro) c.6340A>C (p.Thr2114Pro) c.6310A>C (p.Thr2104Pro) n.6624A>C c.6322A>C (p.Thr2108Pro) n.6657A>C | |
| 1 | g.237627953A>G | CA345411212 | RYR2 | c.6313A>G (p.Thr2105Ala) c.6265A>G (p.Thr2089Ala) c.6343A>G (p.Thr2115Ala) c.6340A>G (p.Thr2114Ala) c.6310A>G (p.Thr2104Ala) n.6624A>G c.6322A>G (p.Thr2108Ala) n.6657A>G | ClinVar gnomAD v4 |
| 1 | g.237627953A>T | CA345411215 | RYR2 | c.6313A>T (p.Thr2105Ser) c.6265A>T (p.Thr2089Ser) c.6343A>T (p.Thr2115Ser) c.6340A>T (p.Thr2114Ser) c.6310A>T (p.Thr2104Ser) n.6624A>T c.6322A>T (p.Thr2108Ser) n.6657A>T | |
| 1 | g.237627954C>A | CA345411219 | RYR2 | c.6314C>A (p.Thr2105Asn) c.6266C>A (p.Thr2089Asn) c.6344C>A (p.Thr2115Asn) c.6341C>A (p.Thr2114Asn) c.6311C>A (p.Thr2104Asn) n.6625C>A c.6323C>A (p.Thr2108Asn) n.6658C>A | |
| 1 | g.237627954C>G | CA345411221 | RYR2 | c.6314C>G (p.Thr2105Ser) c.6266C>G (p.Thr2089Ser) c.6344C>G (p.Thr2115Ser) c.6341C>G (p.Thr2114Ser) c.6311C>G (p.Thr2104Ser) n.6625C>G c.6323C>G (p.Thr2108Ser) n.6658C>G | |
| 1 | g.237627954C>T | CA345411225 | RYR2 | c.6314C>T (p.Thr2105Ile) c.6266C>T (p.Thr2089Ile) c.6344C>T (p.Thr2115Ile) c.6341C>T (p.Thr2114Ile) c.6311C>T (p.Thr2104Ile) n.6625C>T c.6323C>T (p.Thr2108Ile) n.6658C>T | ClinVar dbSNP |
| 1 | g.237627955C>A | CA423821877 | RYR2 | c.6315C>A (p.Thr2105=) c.6267C>A (p.Thr2089=) c.6345C>A (p.Thr2115=) c.6342C>A (p.Thr2114=) c.6312C>A (p.Thr2104=) n.6626C>A c.6324C>A (p.Thr2108=) n.6659C>A | |
| 1 | g.237627955C= | CA2487418000 | RYR2 | c.6315C= (p.Thr2105=) c.6267C= (p.Thr2089=) c.6345C= (p.Thr2115=) c.6342C= (p.Thr2114=) c.6312C= (p.Thr2104=) n.6626C= c.6324C= (p.Thr2108=) n.6659C= | |
| 1 | g.237627955C>G | CA423821878 | RYR2 | c.6315C>G (p.Thr2105=) c.6267C>G (p.Thr2089=) c.6345C>G (p.Thr2115=) c.6342C>G (p.Thr2114=) c.6312C>G (p.Thr2104=) n.6626C>G c.6324C>G (p.Thr2108=) n.6659C>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.237627955C>T | CA423821879 | RYR2 | c.6315C>T (p.Thr2105=) c.6267C>T (p.Thr2089=) c.6345C>T (p.Thr2115=) c.6342C>T (p.Thr2114=) c.6312C>T (p.Thr2104=) n.6626C>T c.6324C>T (p.Thr2108=) n.6659C>T | |
| 1 | g.237627956T>A | CA345411226 | RYR2 | c.6316T>A (p.Tyr2106Asn) c.6268T>A (p.Tyr2090Asn) c.6346T>A (p.Tyr2116Asn) c.6343T>A (p.Tyr2115Asn) c.6313T>A (p.Tyr2105Asn) n.6627T>A c.6325T>A (p.Tyr2109Asn) n.6660T>A | |
| 1 | g.237627956T>C | CA345411228 | RYR2 | c.6316T>C (p.Tyr2106His) c.6268T>C (p.Tyr2090His) c.6346T>C (p.Tyr2116His) c.6343T>C (p.Tyr2115His) c.6313T>C (p.Tyr2105His) n.6627T>C c.6325T>C (p.Tyr2109His) n.6660T>C | |
| 1 | g.237627956T>G | CA345411230 | RYR2 | c.6316T>G (p.Tyr2106Asp) c.6268T>G (p.Tyr2090Asp) c.6346T>G (p.Tyr2116Asp) c.6343T>G (p.Tyr2115Asp) c.6313T>G (p.Tyr2105Asp) n.6627T>G c.6325T>G (p.Tyr2109Asp) n.6660T>G | |
| 1 | g.237627957A>C | CA345411237 | RYR2 | c.6317A>C (p.Tyr2106Ser) c.6269A>C (p.Tyr2090Ser) c.6347A>C (p.Tyr2116Ser) c.6344A>C (p.Tyr2115Ser) c.6314A>C (p.Tyr2105Ser) n.6628A>C c.6326A>C (p.Tyr2109Ser) n.6661A>C | |
| 1 | g.237627957A>G | CA345411233 | RYR2 | c.6317A>G (p.Tyr2106Cys) c.6269A>G (p.Tyr2090Cys) c.6347A>G (p.Tyr2116Cys) c.6344A>G (p.Tyr2115Cys) c.6314A>G (p.Tyr2105Cys) n.6628A>G c.6326A>G (p.Tyr2109Cys) n.6661A>G | gnomAD v4 |
| 1 | g.237627957A>T | CA345411235 | RYR2 | c.6317A>T (p.Tyr2106Phe) c.6269A>T (p.Tyr2090Phe) c.6347A>T (p.Tyr2116Phe) c.6344A>T (p.Tyr2115Phe) c.6314A>T (p.Tyr2105Phe) n.6628A>T c.6326A>T (p.Tyr2109Phe) n.6661A>T | |
| 1 | g.237627958C>A | CA345411239 | RYR2 | c.6318C>A (p.Tyr2106Ter) c.6270C>A (p.Tyr2090Ter) c.6348C>A (p.Tyr2116Ter) c.6345C>A (p.Tyr2115Ter) c.6315C>A (p.Tyr2105Ter) n.6629C>A c.6327C>A (p.Tyr2109Ter) n.6662C>A | |
| 1 | g.237627958C>G | CA345411242 | RYR2 | c.6318C>G (p.Tyr2106Ter) c.6270C>G (p.Tyr2090Ter) c.6348C>G (p.Tyr2116Ter) c.6345C>G (p.Tyr2115Ter) c.6315C>G (p.Tyr2105Ter) n.6629C>G c.6327C>G (p.Tyr2109Ter) n.6662C>G | |
| 1 | g.237627958C>T | CA423821881 | RYR2 | c.6318C>T (p.Tyr2106=) c.6270C>T (p.Tyr2090=) c.6348C>T (p.Tyr2116=) c.6345C>T (p.Tyr2115=) c.6315C>T (p.Tyr2105=) n.6629C>T c.6327C>T (p.Tyr2109=) n.6662C>T | ClinVar dbSNP |
| 1 | g.237627959A>C | CA345411245 | RYR2 | c.6319A>C (p.Thr2107Pro) c.6271A>C (p.Thr2091Pro) c.6349A>C (p.Thr2117Pro) c.6346A>C (p.Thr2116Pro) c.6316A>C (p.Thr2106Pro) n.6630A>C c.6328A>C (p.Thr2110Pro) n.6663A>C | |
| 1 | g.237627959A>G | CA345411247 | RYR2 | c.6319A>G (p.Thr2107Ala) c.6271A>G (p.Thr2091Ala) c.6349A>G (p.Thr2117Ala) c.6346A>G (p.Thr2116Ala) c.6316A>G (p.Thr2106Ala) n.6630A>G c.6328A>G (p.Thr2110Ala) n.6663A>G | gnomAD v4 |
| 1 | g.237627959A>T | CA345411249 | RYR2 | c.6319A>T (p.Thr2107Ser) c.6271A>T (p.Thr2091Ser) c.6349A>T (p.Thr2117Ser) c.6346A>T (p.Thr2116Ser) c.6316A>T (p.Thr2106Ser) n.6630A>T c.6328A>T (p.Thr2110Ser) n.6663A>T | dbSNP |
| 1 | g.237627960C>A | CA345411252 | RYR2 | c.6320C>A (p.Thr2107Lys) c.6272C>A (p.Thr2091Lys) c.6350C>A (p.Thr2117Lys) c.6347C>A (p.Thr2116Lys) c.6317C>A (p.Thr2106Lys) n.6631C>A c.6329C>A (p.Thr2110Lys) n.6664C>A | COSMIC COSMIC |
| 1 | g.237627960C= | CA1143723252 | RYR2 | c.6320C= (p.Thr2107=) c.6272C= (p.Thr2091=) c.6350C= (p.Thr2117=) c.6347C= (p.Thr2116=) c.6317C= (p.Thr2106=) n.6631C= c.6329C= (p.Thr2110=) n.6664C= | |
| 1 | g.237627960C>G | CA345411254 | RYR2 | c.6320C>G (p.Thr2107Arg) c.6272C>G (p.Thr2091Arg) c.6350C>G (p.Thr2117Arg) c.6347C>G (p.Thr2116Arg) c.6317C>G (p.Thr2106Arg) n.6631C>G c.6329C>G (p.Thr2110Arg) n.6664C>G | |
| 1 | g.237627960C>T | CA010101 | RYR2 | c.6320C>T (p.Thr2107Met) c.6272C>T (p.Thr2091Met) c.6350C>T (p.Thr2117Met) c.6347C>T (p.Thr2116Met) c.6317C>T (p.Thr2106Met) n.6631C>T c.6329C>T (p.Thr2110Met) n.6664C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.237627961G>A | CA074825 | RYR2 | c.6321G>A (p.Thr2107=) c.6273G>A (p.Thr2091=) c.6351G>A (p.Thr2117=) c.6348G>A (p.Thr2116=) c.6318G>A (p.Thr2106=) n.6632G>A c.6330G>A (p.Thr2110=) n.6665G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.237627961G>C | CA423821883 | RYR2 | c.6321G>C (p.Thr2107=) c.6273G>C (p.Thr2091=) c.6351G>C (p.Thr2117=) c.6348G>C (p.Thr2116=) c.6318G>C (p.Thr2106=) n.6632G>C c.6330G>C (p.Thr2110=) n.6665G>C | |
| 1 | g.237627961G= | CA2487418001 | RYR2 | c.6321G= (p.Thr2107=) c.6273G= (p.Thr2091=) c.6351G= (p.Thr2117=) c.6348G= (p.Thr2116=) c.6318G= (p.Thr2106=) n.6632G= c.6330G= (p.Thr2110=) n.6665G= | |
| 1 | g.237627961G>T | CA423821884 | RYR2 | c.6321G>T (p.Thr2107=) c.6273G>T (p.Thr2091=) c.6351G>T (p.Thr2117=) c.6348G>T (p.Thr2116=) c.6318G>T (p.Thr2106=) n.6632G>T c.6330G>T (p.Thr2110=) n.6665G>T | |
| 1 | g.237627962A>C | CA345411259 | RYR2 | c.6322A>C (p.Ile2108Leu) c.6274A>C (p.Ile2092Leu) c.6352A>C (p.Ile2118Leu) c.6349A>C (p.Ile2117Leu) c.6319A>C (p.Ile2107Leu) n.6633A>C c.6331A>C (p.Ile2111Leu) n.6666A>C | |
| 1 | g.237627962A>G | CA345411261 | RYR2 | c.6322A>G (p.Ile2108Val) c.6274A>G (p.Ile2092Val) c.6352A>G (p.Ile2118Val) c.6349A>G (p.Ile2117Val) c.6319A>G (p.Ile2107Val) n.6633A>G c.6331A>G (p.Ile2111Val) n.6666A>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.237627962A>T | CA345411263 | RYR2 | c.6322A>T (p.Ile2108Leu) c.6274A>T (p.Ile2092Leu) c.6352A>T (p.Ile2118Leu) c.6349A>T (p.Ile2117Leu) c.6319A>T (p.Ile2107Leu) n.6633A>T c.6331A>T (p.Ile2111Leu) n.6666A>T | |
| 1 | g.237627963T>A | CA345411266 | RYR2 | c.6323T>A (p.Ile2108Lys) c.6275T>A (p.Ile2092Lys) c.6353T>A (p.Ile2118Lys) c.6350T>A (p.Ile2117Lys) c.6320T>A (p.Ile2107Lys) n.6634T>A c.6332T>A (p.Ile2111Lys) n.6667T>A | |
| 1 | g.237627963T>C | CA345411269 | RYR2 | c.6323T>C (p.Ile2108Thr) c.6275T>C (p.Ile2092Thr) c.6353T>C (p.Ile2118Thr) c.6350T>C (p.Ile2117Thr) c.6320T>C (p.Ile2107Thr) n.6634T>C c.6332T>C (p.Ile2111Thr) n.6667T>C | |
| 1 | g.237627963T>G | CA345411270 | RYR2 | c.6323T>G (p.Ile2108Arg) c.6275T>G (p.Ile2092Arg) c.6353T>G (p.Ile2118Arg) c.6350T>G (p.Ile2117Arg) c.6320T>G (p.Ile2107Arg) n.6634T>G c.6332T>G (p.Ile2111Arg) n.6667T>G | |
| 1 | g.237627964A>C | CA423821885 | RYR2 | c.6324A>C (p.Ile2108=) c.6276A>C (p.Ile2092=) c.6354A>C (p.Ile2118=) c.6351A>C (p.Ile2117=) c.6321A>C (p.Ile2107=) n.6635A>C c.6333A>C (p.Ile2111=) n.6668A>C | |
| 1 | g.237627964A>G | CA345411273 | RYR2 | c.6324A>G (p.Ile2108Met) c.6276A>G (p.Ile2092Met) c.6354A>G (p.Ile2118Met) c.6351A>G (p.Ile2117Met) c.6321A>G (p.Ile2107Met) n.6635A>G c.6333A>G (p.Ile2111Met) n.6668A>G | |
| 1 | g.237627964A>T | CA423821886 | RYR2 | c.6324A>T (p.Ile2108=) c.6276A>T (p.Ile2092=) c.6354A>T (p.Ile2118=) c.6351A>T (p.Ile2117=) c.6321A>T (p.Ile2107=) n.6635A>T c.6333A>T (p.Ile2111=) n.6668A>T | |
| 1 | g.237627965A>C | CA345411277 | RYR2 | c.6325A>C (p.Asn2109His) c.6277A>C (p.Asn2093His) c.6355A>C (p.Asn2119His) c.6352A>C (p.Asn2118His) c.6322A>C (p.Asn2108His) n.6636A>C c.6334A>C (p.Asn2112His) n.6669A>C | COSMIC COSMIC |
| 1 | g.237627965A>G | CA345411281 | RYR2 | c.6325A>G (p.Asn2109Asp) c.6277A>G (p.Asn2093Asp) c.6355A>G (p.Asn2119Asp) c.6352A>G (p.Asn2118Asp) c.6322A>G (p.Asn2108Asp) n.6636A>G c.6334A>G (p.Asn2112Asp) n.6669A>G | COSMIC |
| 1 | g.237627965A>T | CA345411278 | RYR2 | c.6325A>T (p.Asn2109Tyr) c.6277A>T (p.Asn2093Tyr) c.6355A>T (p.Asn2119Tyr) c.6352A>T (p.Asn2118Tyr) c.6322A>T (p.Asn2108Tyr) n.6636A>T c.6334A>T (p.Asn2112Tyr) n.6669A>T | |
| 1 | g.237627966A>C | CA345411284 | RYR2 | c.6326A>C (p.Asn2109Thr) c.6278A>C (p.Asn2093Thr) c.6356A>C (p.Asn2119Thr) c.6353A>C (p.Asn2118Thr) c.6323A>C (p.Asn2108Thr) n.6637A>C c.6335A>C (p.Asn2112Thr) n.6670A>C | |
| 1 | g.237627966A>G | CA345411286 | RYR2 | c.6326A>G (p.Asn2109Ser) c.6278A>G (p.Asn2093Ser) c.6356A>G (p.Asn2119Ser) c.6353A>G (p.Asn2118Ser) c.6323A>G (p.Asn2108Ser) n.6637A>G c.6335A>G (p.Asn2112Ser) n.6670A>G | |
| 1 | g.237627966A>T | CA345411288 | RYR2 | c.6326A>T (p.Asn2109Ile) c.6278A>T (p.Asn2093Ile) c.6356A>T (p.Asn2119Ile) c.6353A>T (p.Asn2118Ile) c.6323A>T (p.Asn2108Ile) n.6637A>T c.6335A>T (p.Asn2112Ile) n.6670A>T | |
| 1 | g.237627966_237627967delinsTA | CA645514122 | RYR2 | c.6326_6327delinsTA (p.Asn2109Ile) c.6278_6279delinsTA (p.Asn2093Ile) c.6356_6357delinsTA (p.Asn2119Ile) c.6353_6354delinsTA (p.Asn2118Ile) c.6323_6324delinsTA (p.Asn2108Ile) n.6637_6638delinsTA c.6335_6336delinsTA (p.Asn2112Ile) n.6670_6671delinsTA | COSMIC |
| 1 | g.237627967T>A | CA345411291 | RYR2 | c.6327T>A (p.Asn2109Lys) c.6279T>A (p.Asn2093Lys) c.6357T>A (p.Asn2119Lys) c.6354T>A (p.Asn2118Lys) c.6324T>A (p.Asn2108Lys) n.6638T>A c.6336T>A (p.Asn2112Lys) n.6671T>A | ClinVar gnomAD v4 |
| 1 | g.237627967T>C | CA087091 | RYR2 | c.6327T>C (p.Asn2109=) c.6279T>C (p.Asn2093=) c.6357T>C (p.Asn2119=) c.6354T>C (p.Asn2118=) c.6324T>C (p.Asn2108=) n.6638T>C c.6336T>C (p.Asn2112=) n.6671T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237627967T>G | CA345411295 | RYR2 | c.6327T>G (p.Asn2109Lys) c.6279T>G (p.Asn2093Lys) c.6357T>G (p.Asn2119Lys) c.6354T>G (p.Asn2118Lys) c.6324T>G (p.Asn2108Lys) n.6638T>G c.6336T>G (p.Asn2112Lys) n.6671T>G | |
| 1 | g.237627967T= | CA2487418002 | RYR2 | c.6327T= (p.Asn2109=) c.6279T= (p.Asn2093=) c.6357T= (p.Asn2119=) c.6354T= (p.Asn2118=) c.6324T= (p.Asn2108=) n.6638T= c.6336T= (p.Asn2112=) n.6671T= | |
| 1 | g.237627968G>A | CA345411298 | RYR2 | c.6328G>A (p.Gly2110Ser) c.6280G>A (p.Gly2094Ser) c.6358G>A (p.Gly2120Ser) c.6355G>A (p.Gly2119Ser) c.6325G>A (p.Gly2109Ser) n.6639G>A c.6337G>A (p.Gly2113Ser) n.6672G>A | |
| 1 | g.237627968G>C | CA345411300 | RYR2 | c.6328G>C (p.Gly2110Arg) c.6280G>C (p.Gly2094Arg) c.6358G>C (p.Gly2120Arg) c.6355G>C (p.Gly2119Arg) c.6325G>C (p.Gly2109Arg) n.6639G>C c.6337G>C (p.Gly2113Arg) n.6672G>C | |
| 1 | g.237627968G>T | CA345411302 | RYR2 | c.6328G>T (p.Gly2110Cys) c.6280G>T (p.Gly2094Cys) c.6358G>T (p.Gly2120Cys) c.6355G>T (p.Gly2119Cys) c.6325G>T (p.Gly2109Cys) n.6639G>T c.6337G>T (p.Gly2113Cys) n.6672G>T | |
| 1 | g.237627969G>A | CA345411305 | RYR2 | c.6329G>A (p.Gly2110Asp) c.6281G>A (p.Gly2094Asp) c.6359G>A (p.Gly2120Asp) c.6356G>A (p.Gly2119Asp) c.6326G>A (p.Gly2109Asp) n.6640G>A c.6338G>A (p.Gly2113Asp) n.6673G>A | |
| 1 | g.237627969G>C | CA345411307 | RYR2 | c.6329G>C (p.Gly2110Ala) c.6281G>C (p.Gly2094Ala) c.6359G>C (p.Gly2120Ala) c.6356G>C (p.Gly2119Ala) c.6326G>C (p.Gly2109Ala) n.6640G>C c.6338G>C (p.Gly2113Ala) n.6673G>C | |
| 1 | g.237627969G>T | CA345411308 | RYR2 | c.6329G>T (p.Gly2110Val) c.6281G>T (p.Gly2094Val) c.6359G>T (p.Gly2120Val) c.6356G>T (p.Gly2119Val) c.6326G>T (p.Gly2109Val) n.6640G>T c.6338G>T (p.Gly2113Val) n.6673G>T | |
| 1 | g.237627970T>A | CA423821893 | RYR2 | c.6330T>A (p.Gly2110=) c.6282T>A (p.Gly2094=) c.6360T>A (p.Gly2120=) c.6357T>A (p.Gly2119=) c.6327T>A (p.Gly2109=) n.6641T>A c.6339T>A (p.Gly2113=) n.6674T>A | |
| 1 | g.237627970T>C | CA423821894 | RYR2 | c.6330T>C (p.Gly2110=) c.6282T>C (p.Gly2094=) c.6360T>C (p.Gly2120=) c.6357T>C (p.Gly2119=) c.6327T>C (p.Gly2109=) n.6641T>C c.6339T>C (p.Gly2113=) n.6674T>C | gnomAD v4 |
| 1 | g.237627970T>G | CA423821895 | RYR2 | c.6330T>G (p.Gly2110=) c.6282T>G (p.Gly2094=) c.6360T>G (p.Gly2120=) c.6357T>G (p.Gly2119=) c.6327T>G (p.Gly2109=) n.6641T>G c.6339T>G (p.Gly2113=) n.6674T>G | |
| 1 | g.237627971G>A | CA345411309 | RYR2 | c.6331G>A (p.Val2111Met) c.6283G>A (p.Val2095Met) c.6361G>A (p.Val2121Met) c.6358G>A (p.Val2120Met) c.6328G>A (p.Val2110Met) n.6642G>A c.6340G>A (p.Val2114Met) n.6675G>A | |
| 1 | g.237627971G>C | CA345411313 | RYR2 | c.6331G>C (p.Val2111Leu) c.6283G>C (p.Val2095Leu) c.6361G>C (p.Val2121Leu) c.6358G>C (p.Val2120Leu) c.6328G>C (p.Val2110Leu) n.6642G>C c.6340G>C (p.Val2114Leu) n.6675G>C | |
| 1 | g.237627971G>T | CA345411310 | RYR2 | c.6331G>T (p.Val2111Leu) c.6283G>T (p.Val2095Leu) c.6361G>T (p.Val2121Leu) c.6358G>T (p.Val2120Leu) c.6328G>T (p.Val2110Leu) n.6642G>T c.6340G>T (p.Val2114Leu) n.6675G>T | ClinVar dbSNP |
| 1 | g.237627972T>A | CA345411316 | RYR2 | c.6332T>A (p.Val2111Glu) c.6284T>A (p.Val2095Glu) c.6362T>A (p.Val2121Glu) c.6359T>A (p.Val2120Glu) c.6329T>A (p.Val2110Glu) n.6643T>A c.6341T>A (p.Val2114Glu) n.6676T>A | |
| 1 | g.237627972T>C | CA087092 | RYR2 | c.6332T>C (p.Val2111Ala) c.6284T>C (p.Val2095Ala) c.6362T>C (p.Val2121Ala) c.6359T>C (p.Val2120Ala) c.6329T>C (p.Val2110Ala) n.6643T>C c.6341T>C (p.Val2114Ala) n.6676T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237627972T>G | CA345411317 | RYR2 | c.6332T>G (p.Val2111Gly) c.6284T>G (p.Val2095Gly) c.6362T>G (p.Val2121Gly) c.6359T>G (p.Val2120Gly) c.6329T>G (p.Val2110Gly) n.6643T>G c.6341T>G (p.Val2114Gly) n.6676T>G | |
| 1 | g.237627972T= | CA1145848156 | RYR2 | c.6332T= (p.Val2111=) c.6284T= (p.Val2095=) c.6362T= (p.Val2121=) c.6359T= (p.Val2120=) c.6329T= (p.Val2110=) n.6643T= c.6341T= (p.Val2114=) n.6676T= | |
| 1 | g.237627973G>A | CA423821898 | RYR2 | c.6333G>A (p.Val2111=) c.6285G>A (p.Val2095=) c.6363G>A (p.Val2121=) c.6360G>A (p.Val2120=) c.6330G>A (p.Val2110=) n.6644G>A c.6342G>A (p.Val2114=) n.6677G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237627973G>C | CA423821896 | RYR2 | c.6333G>C (p.Val2111=) c.6285G>C (p.Val2095=) c.6363G>C (p.Val2121=) c.6360G>C (p.Val2120=) c.6330G>C (p.Val2110=) n.6644G>C c.6342G>C (p.Val2114=) n.6677G>C | |
| 1 | g.237627973G= | CA2487418003 | RYR2 | c.6333G= (p.Val2111=) c.6285G= (p.Val2095=) c.6363G= (p.Val2121=) c.6360G= (p.Val2120=) c.6330G= (p.Val2110=) n.6644G= c.6342G= (p.Val2114=) n.6677G= | |
| 1 | g.237627973G>T | CA423821897 | RYR2 | c.6333G>T (p.Val2111=) c.6285G>T (p.Val2095=) c.6363G>T (p.Val2121=) c.6360G>T (p.Val2120=) c.6330G>T (p.Val2110=) n.6644G>T c.6342G>T (p.Val2114=) n.6677G>T | |
| 1 | g.237627974T>A | CA345411320 | RYR2 | c.6334T>A (p.Ser2112Thr) c.6286T>A (p.Ser2096Thr) c.6364T>A (p.Ser2122Thr) c.6361T>A (p.Ser2121Thr) c.6331T>A (p.Ser2111Thr) n.6645T>A c.6343T>A (p.Ser2115Thr) n.6678T>A | |
| 1 | g.237627974T>C | CA345411321 | RYR2 | c.6334T>C (p.Ser2112Pro) c.6286T>C (p.Ser2096Pro) c.6364T>C (p.Ser2122Pro) c.6361T>C (p.Ser2121Pro) c.6331T>C (p.Ser2111Pro) n.6645T>C c.6343T>C (p.Ser2115Pro) n.6678T>C | gnomAD v4 |
| 1 | g.237627974T>G | CA345411323 | RYR2 | c.6334T>G (p.Ser2112Ala) c.6286T>G (p.Ser2096Ala) c.6364T>G (p.Ser2122Ala) c.6361T>G (p.Ser2121Ala) c.6331T>G (p.Ser2111Ala) n.6645T>G c.6343T>G (p.Ser2115Ala) n.6678T>G | gnomAD v4 |
| 1 | g.237627975C>A | CA345411324 | RYR2 | c.6335C>A (p.Ser2112Tyr) c.6287C>A (p.Ser2096Tyr) c.6365C>A (p.Ser2122Tyr) c.6362C>A (p.Ser2121Tyr) c.6332C>A (p.Ser2111Tyr) n.6646C>A c.6344C>A (p.Ser2115Tyr) n.6679C>A | |
| 1 | g.237627975C= | CA2487418004 | RYR2 | c.6335C= (p.Ser2112=) c.6287C= (p.Ser2096=) c.6365C= (p.Ser2122=) c.6362C= (p.Ser2121=) c.6332C= (p.Ser2111=) n.6646C= c.6344C= (p.Ser2115=) n.6679C= | |
| 1 | g.237627975C>G | CA345411326 | RYR2 | c.6335C>G (p.Ser2112Cys) c.6287C>G (p.Ser2096Cys) c.6365C>G (p.Ser2122Cys) c.6362C>G (p.Ser2121Cys) c.6332C>G (p.Ser2111Cys) n.6646C>G c.6344C>G (p.Ser2115Cys) n.6679C>G | dbSNP |
| 1 | g.237627975C>T | CA345411327 | RYR2 | c.6335C>T (p.Ser2112Phe) c.6287C>T (p.Ser2096Phe) c.6365C>T (p.Ser2122Phe) c.6362C>T (p.Ser2121Phe) c.6332C>T (p.Ser2111Phe) n.6646C>T c.6344C>T (p.Ser2115Phe) n.6679C>T | |
| 1 | g.237627976C>A | CA423821900 | RYR2 | c.6336C>A (p.Ser2112=) c.6288C>A (p.Ser2096=) c.6366C>A (p.Ser2122=) c.6363C>A (p.Ser2121=) c.6333C>A (p.Ser2111=) n.6647C>A c.6345C>A (p.Ser2115=) n.6680C>A | gnomAD v4 |
| 1 | g.237627976C= | CA1143951655 | RYR2 | c.6336C= (p.Ser2112=) c.6288C= (p.Ser2096=) c.6366C= (p.Ser2122=) c.6363C= (p.Ser2121=) c.6333C= (p.Ser2111=) n.6647C= c.6345C= (p.Ser2115=) n.6680C= | |
| 1 | g.237627976C>G | CA423821899 | RYR2 | c.6336C>G (p.Ser2112=) c.6288C>G (p.Ser2096=) c.6366C>G (p.Ser2122=) c.6363C>G (p.Ser2121=) c.6333C>G (p.Ser2111=) n.6647C>G c.6345C>G (p.Ser2115=) n.6680C>G | |
| 1 | g.237627976C>T | CA087093 | RYR2 | c.6336C>T (p.Ser2112=) c.6288C>T (p.Ser2096=) c.6366C>T (p.Ser2122=) c.6363C>T (p.Ser2121=) c.6333C>T (p.Ser2111=) n.6647C>T c.6345C>T (p.Ser2115=) n.6680C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.237627977G>A | CA010110 | RYR2 | c.6337G>A (p.Val2113Met) c.6289G>A (p.Val2097Met) c.6367G>A (p.Val2123Met) c.6364G>A (p.Val2122Met) c.6334G>A (p.Val2112Met) n.6648G>A c.6346G>A (p.Val2116Met) n.6681G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237627977G>C | CA345411333 | RYR2 | c.6337G>C (p.Val2113Leu) c.6289G>C (p.Val2097Leu) c.6367G>C (p.Val2123Leu) c.6364G>C (p.Val2122Leu) c.6334G>C (p.Val2112Leu) n.6648G>C c.6346G>C (p.Val2116Leu) n.6681G>C | |
| 1 | g.237627977G= | CA1142882953 | RYR2 | c.6337G= (p.Val2113=) c.6289G= (p.Val2097=) c.6367G= (p.Val2123=) c.6364G= (p.Val2122=) c.6334G= (p.Val2112=) n.6648G= c.6346G= (p.Val2116=) n.6681G= | |
| 1 | g.237627977G>T | CA345411335 | RYR2 | c.6337G>T (p.Val2113Leu) c.6289G>T (p.Val2097Leu) c.6367G>T (p.Val2123Leu) c.6364G>T (p.Val2122Leu) c.6334G>T (p.Val2112Leu) n.6648G>T c.6346G>T (p.Val2116Leu) n.6681G>T | gnomAD v4 |
| 1 | g.237627978T>A | CA345411338 | RYR2 | c.6338T>A (p.Val2113Glu) c.6290T>A (p.Val2097Glu) c.6368T>A (p.Val2123Glu) c.6365T>A (p.Val2122Glu) c.6335T>A (p.Val2112Glu) n.6649T>A c.6347T>A (p.Val2116Glu) n.6682T>A | |
| 1 | g.237627978T>C | CA345411336 | RYR2 | c.6338T>C (p.Val2113Ala) c.6290T>C (p.Val2097Ala) c.6368T>C (p.Val2123Ala) c.6365T>C (p.Val2122Ala) c.6335T>C (p.Val2112Ala) n.6649T>C c.6347T>C (p.Val2116Ala) n.6682T>C | |
| 1 | g.237627978T>G | CA345411337 | RYR2 | c.6338T>G (p.Val2113Gly) c.6290T>G (p.Val2097Gly) c.6368T>G (p.Val2123Gly) c.6365T>G (p.Val2122Gly) c.6335T>G (p.Val2112Gly) n.6649T>G c.6347T>G (p.Val2116Gly) n.6682T>G | |
| 1 | g.237627979G>A | CA423821901 | RYR2 | c.6339G>A (p.Val2113=) c.6291G>A (p.Val2097=) c.6369G>A (p.Val2123=) c.6366G>A (p.Val2122=) c.6336G>A (p.Val2112=) n.6650G>A c.6348G>A (p.Val2116=) n.6683G>A | |
| 1 | g.237627979G>C | CA423821903 | RYR2 | c.6339G>C (p.Val2113=) c.6291G>C (p.Val2097=) c.6369G>C (p.Val2123=) c.6366G>C (p.Val2122=) c.6336G>C (p.Val2112=) n.6650G>C c.6348G>C (p.Val2116=) n.6683G>C | |
| 1 | g.237627979G>T | CA423821902 | RYR2 | c.6339G>T (p.Val2113=) c.6291G>T (p.Val2097=) c.6369G>T (p.Val2123=) c.6366G>T (p.Val2122=) c.6336G>T (p.Val2112=) n.6650G>T c.6348G>T (p.Val2116=) n.6683G>T | |
| 1 | g.237627980G>A | CA345411339 | RYR2 | c.6340G>A (p.Glu2114Lys) c.6292G>A (p.Glu2098Lys) c.6370G>A (p.Glu2124Lys) c.6367G>A (p.Glu2123Lys) c.6337G>A (p.Glu2113Lys) n.6651G>A c.6349G>A (p.Glu2117Lys) n.6684G>A | |
| 1 | g.237627980G>C | CA087094 | RYR2 | c.6340G>C (p.Glu2114Gln) c.6292G>C (p.Glu2098Gln) c.6370G>C (p.Glu2124Gln) c.6367G>C (p.Glu2123Gln) c.6337G>C (p.Glu2113Gln) n.6651G>C c.6349G>C (p.Glu2117Gln) n.6684G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237627980G= | CA2487418005 | RYR2 | c.6340G= (p.Glu2114=) c.6292G= (p.Glu2098=) c.6370G= (p.Glu2124=) c.6367G= (p.Glu2123=) c.6337G= (p.Glu2113=) n.6651G= c.6349G= (p.Glu2117=) n.6684G= | |
| 1 | g.237627980G>T | CA345411340 | RYR2 | c.6340G>T (p.Glu2114Ter) c.6292G>T (p.Glu2098Ter) c.6370G>T (p.Glu2124Ter) c.6367G>T (p.Glu2123Ter) c.6337G>T (p.Glu2113Ter) n.6651G>T c.6349G>T (p.Glu2117Ter) n.6684G>T | |
| 1 | g.237627981A>C | CA345411341 | RYR2 | c.6341A>C (p.Glu2114Ala) c.6293A>C (p.Glu2098Ala) c.6371A>C (p.Glu2124Ala) c.6368A>C (p.Glu2123Ala) c.6338A>C (p.Glu2113Ala) n.6652A>C c.6350A>C (p.Glu2117Ala) n.6685A>C | |
| 1 | g.237627981A>G | CA345411342 | RYR2 | c.6341A>G (p.Glu2114Gly) c.6293A>G (p.Glu2098Gly) c.6371A>G (p.Glu2124Gly) c.6368A>G (p.Glu2123Gly) c.6338A>G (p.Glu2113Gly) n.6652A>G c.6350A>G (p.Glu2117Gly) n.6685A>G | |
| 1 | g.237627981A>T | CA345411343 | RYR2 | c.6341A>T (p.Glu2114Val) c.6293A>T (p.Glu2098Val) c.6371A>T (p.Glu2124Val) c.6368A>T (p.Glu2123Val) c.6338A>T (p.Glu2113Val) n.6652A>T c.6350A>T (p.Glu2117Val) n.6685A>T | |
| 1 | g.237627982G>A | CA423821904 | RYR2 | c.6342G>A (p.Glu2114=) c.6294G>A (p.Glu2098=) c.6372G>A (p.Glu2124=) c.6369G>A (p.Glu2123=) c.6339G>A (p.Glu2113=) n.6653G>A c.6351G>A (p.Glu2117=) n.6686G>A | |
| 1 | g.237627982G>C | CA345411344 | RYR2 | c.6342G>C (p.Glu2114Asp) c.6294G>C (p.Glu2098Asp) c.6372G>C (p.Glu2124Asp) c.6369G>C (p.Glu2123Asp) c.6339G>C (p.Glu2113Asp) n.6653G>C c.6351G>C (p.Glu2117Asp) n.6686G>C | |
| 1 | g.237627982G>T | CA345411345 | RYR2 | c.6342G>T (p.Glu2114Asp) c.6294G>T (p.Glu2098Asp) c.6372G>T (p.Glu2124Asp) c.6369G>T (p.Glu2123Asp) c.6339G>T (p.Glu2113Asp) n.6653G>T c.6351G>T (p.Glu2117Asp) n.6686G>T | |
| 1 | g.237627983G>A | CA345411346 | RYR2 | c.6343G>A (p.Asp2115Asn) c.6295G>A (p.Asp2099Asn) c.6373G>A (p.Asp2125Asn) c.6370G>A (p.Asp2124Asn) c.6340G>A (p.Asp2114Asn) n.6654G>A c.6352G>A (p.Asp2118Asn) n.6687G>A | COSMIC COSMIC |
| 1 | g.237627983G>C | CA345411347 | RYR2 | c.6343G>C (p.Asp2115His) c.6295G>C (p.Asp2099His) c.6373G>C (p.Asp2125His) c.6370G>C (p.Asp2124His) c.6340G>C (p.Asp2114His) n.6654G>C c.6352G>C (p.Asp2118His) n.6687G>C | gnomAD v4 |
| 1 | g.237627983G>T | CA345411348 | RYR2 | c.6343G>T (p.Asp2115Tyr) c.6295G>T (p.Asp2099Tyr) c.6373G>T (p.Asp2125Tyr) c.6370G>T (p.Asp2124Tyr) c.6340G>T (p.Asp2114Tyr) n.6654G>T c.6352G>T (p.Asp2118Tyr) n.6687G>T | |
| 1 | g.237627984A>C | CA345411351 | RYR2 | c.6344A>C (p.Asp2115Ala) c.6296A>C (p.Asp2099Ala) c.6374A>C (p.Asp2125Ala) c.6371A>C (p.Asp2124Ala) c.6341A>C (p.Asp2114Ala) n.6655A>C c.6353A>C (p.Asp2118Ala) n.6688A>C | |
| 1 | g.237627984A>G | CA345411349 | RYR2 | c.6344A>G (p.Asp2115Gly) c.6296A>G (p.Asp2099Gly) c.6374A>G (p.Asp2125Gly) c.6371A>G (p.Asp2124Gly) c.6341A>G (p.Asp2114Gly) n.6655A>G c.6353A>G (p.Asp2118Gly) n.6688A>G | gnomAD v4 |
| 1 | g.237627984A>T | CA345411350 | RYR2 | c.6344A>T (p.Asp2115Val) c.6296A>T (p.Asp2099Val) c.6374A>T (p.Asp2125Val) c.6371A>T (p.Asp2124Val) c.6341A>T (p.Asp2114Val) n.6655A>T c.6353A>T (p.Asp2118Val) n.6688A>T | |
| 1 | g.237627985C>A | CA345411352 | RYR2 | c.6345C>A (p.Asp2115Glu) c.6297C>A (p.Asp2099Glu) c.6375C>A (p.Asp2125Glu) c.6372C>A (p.Asp2124Glu) c.6342C>A (p.Asp2114Glu) n.6656C>A c.6354C>A (p.Asp2118Glu) n.6689C>A | |
| 1 | g.237627985C>G | CA345411353 | RYR2 | c.6345C>G (p.Asp2115Glu) c.6297C>G (p.Asp2099Glu) c.6375C>G (p.Asp2125Glu) c.6372C>G (p.Asp2124Glu) c.6342C>G (p.Asp2114Glu) n.6656C>G c.6354C>G (p.Asp2118Glu) n.6689C>G | |
| 1 | g.237627985C>T | CA423821905 | RYR2 | c.6345C>T (p.Asp2115=) c.6297C>T (p.Asp2099=) c.6375C>T (p.Asp2125=) c.6372C>T (p.Asp2124=) c.6342C>T (p.Asp2114=) n.6656C>T c.6354C>T (p.Asp2118=) n.6689C>T | gnomAD v4 |
| 1 | g.237627986A= | CA2487418006 | RYR2 | c.6346A= (p.Thr2116=) c.6298A= (p.Thr2100=) c.6376A= (p.Thr2126=) c.6373A= (p.Thr2125=) c.6343A= (p.Thr2115=) n.6657A= c.6355A= (p.Thr2119=) n.6690A= | |
| 1 | g.237627986A>C | CA345411354 | RYR2 | c.6346A>C (p.Thr2116Pro) c.6298A>C (p.Thr2100Pro) c.6376A>C (p.Thr2126Pro) c.6373A>C (p.Thr2125Pro) c.6343A>C (p.Thr2115Pro) n.6657A>C c.6355A>C (p.Thr2119Pro) n.6690A>C | |
| 1 | g.237627986A>G | CA087095 | RYR2 | c.6346A>G (p.Thr2116Ala) c.6298A>G (p.Thr2100Ala) c.6376A>G (p.Thr2126Ala) c.6373A>G (p.Thr2125Ala) c.6343A>G (p.Thr2115Ala) n.6657A>G c.6355A>G (p.Thr2119Ala) n.6690A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237627986A>T | CA345411355 | RYR2 | c.6346A>T (p.Thr2116Ser) c.6298A>T (p.Thr2100Ser) c.6376A>T (p.Thr2126Ser) c.6373A>T (p.Thr2125Ser) c.6343A>T (p.Thr2115Ser) n.6657A>T c.6355A>T (p.Thr2119Ser) n.6690A>T | |
| 1 | g.237627987C>A | CA345411356 | RYR2 | c.6347C>A (p.Thr2116Asn) c.6299C>A (p.Thr2100Asn) c.6377C>A (p.Thr2126Asn) c.6374C>A (p.Thr2125Asn) c.6344C>A (p.Thr2115Asn) n.6658C>A c.6356C>A (p.Thr2119Asn) n.6691C>A | |
| 1 | g.237627987C>G | CA345411357 | RYR2 | c.6347C>G (p.Thr2116Ser) c.6299C>G (p.Thr2100Ser) c.6377C>G (p.Thr2126Ser) c.6374C>G (p.Thr2125Ser) c.6344C>G (p.Thr2115Ser) n.6658C>G c.6356C>G (p.Thr2119Ser) n.6691C>G | |
| 1 | g.237627987C>T | CA345411358 | RYR2 | c.6347C>T (p.Thr2116Ile) c.6299C>T (p.Thr2100Ile) c.6377C>T (p.Thr2126Ile) c.6374C>T (p.Thr2125Ile) c.6344C>T (p.Thr2115Ile) n.6658C>T c.6356C>T (p.Thr2119Ile) n.6691C>T | |
| 1 | g.237627988C>A | CA423821906 | RYR2 | c.6348C>A (p.Thr2116=) c.6300C>A (p.Thr2100=) c.6378C>A (p.Thr2126=) c.6375C>A (p.Thr2125=) c.6345C>A (p.Thr2115=) n.6659C>A c.6357C>A (p.Thr2119=) n.6692C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237627988C= | CA2487418007 | RYR2 | c.6348C= (p.Thr2116=) c.6300C= (p.Thr2100=) c.6378C= (p.Thr2126=) c.6375C= (p.Thr2125=) c.6345C= (p.Thr2115=) n.6659C= c.6357C= (p.Thr2119=) n.6692C= | |
| 1 | g.237627988C>G | CA423821907 | RYR2 | c.6348C>G (p.Thr2116=) c.6300C>G (p.Thr2100=) c.6378C>G (p.Thr2126=) c.6375C>G (p.Thr2125=) c.6345C>G (p.Thr2115=) n.6659C>G c.6357C>G (p.Thr2119=) n.6692C>G | |
| 1 | g.237627988C>T | CA423821908 | RYR2 | c.6348C>T (p.Thr2116=) c.6300C>T (p.Thr2100=) c.6378C>T (p.Thr2126=) c.6375C>T (p.Thr2125=) c.6345C>T (p.Thr2115=) n.6659C>T c.6357C>T (p.Thr2119=) n.6692C>T | dbSNP |
| 1 | g.237627989A= | CA2487418008 | RYR2 | c.6349A= (p.Ile2117=) c.6301A= (p.Ile2101=) c.6379A= (p.Ile2127=) c.6376A= (p.Ile2126=) c.6346A= (p.Ile2116=) n.6660A= c.6358A= (p.Ile2120=) n.6693A= | |
| 1 | g.237627989A>C | CA345411359 | RYR2 | c.6349A>C (p.Ile2117Leu) c.6301A>C (p.Ile2101Leu) c.6379A>C (p.Ile2127Leu) c.6376A>C (p.Ile2126Leu) c.6346A>C (p.Ile2116Leu) n.6660A>C c.6358A>C (p.Ile2120Leu) n.6693A>C | gnomAD v4 |
| 1 | g.237627989A>G | CA39839686 | RYR2 | c.6349A>G (p.Ile2117Val) c.6301A>G (p.Ile2101Val) c.6379A>G (p.Ile2127Val) c.6376A>G (p.Ile2126Val) c.6346A>G (p.Ile2116Val) n.6660A>G c.6358A>G (p.Ile2120Val) n.6693A>G | ClinVar dbSNP COSMIC |
| 1 | g.237627989A>T | CA345411360 | RYR2 | c.6349A>T (p.Ile2117Phe) c.6301A>T (p.Ile2101Phe) c.6379A>T (p.Ile2127Phe) c.6376A>T (p.Ile2126Phe) c.6346A>T (p.Ile2116Phe) n.6660A>T c.6358A>T (p.Ile2120Phe) n.6693A>T |