| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237627872_237627881delinsTCC | CA2586968536 | RYR2 | c.6232_6241delinsTCC (p.Pro2078SerfsTer2) c.6184_6193delinsTCC (p.Pro2062SerfsTer2) c.6262_6271delinsTCC (p.Pro2088SerfsTer2) c.6259_6268delinsTCC (p.Pro2087SerfsTer2) c.6229_6238delinsTCC (p.Pro2077SerfsTer2) n.6543_6552delinsTCC c.6241_6250delinsTCC (p.Pro2081SerfsTer2) n.6576_6585delinsTCC | |
| 1 | g.237627877G>A | CA423821699 | RYR2 | c.6237G>A (p.Glu2079=) c.6189G>A (p.Glu2063=) c.6267G>A (p.Glu2089=) c.6264G>A (p.Glu2088=) c.6234G>A (p.Glu2078=) n.6548G>A c.6246G>A (p.Glu2082=) n.6581G>A | |
| 1 | g.237627877G>C | CA345410654 | RYR2 | c.6237G>C (p.Glu2079Asp) c.6189G>C (p.Glu2063Asp) c.6267G>C (p.Glu2089Asp) c.6264G>C (p.Glu2088Asp) c.6234G>C (p.Glu2078Asp) n.6548G>C c.6246G>C (p.Glu2082Asp) n.6581G>C | |
| 1 | g.237627877G>T | CA345410655 | RYR2 | c.6237G>T (p.Glu2079Asp) c.6189G>T (p.Glu2063Asp) c.6267G>T (p.Glu2089Asp) c.6264G>T (p.Glu2088Asp) c.6234G>T (p.Glu2078Asp) n.6548G>T c.6246G>T (p.Glu2082Asp) n.6581G>T | |
| 1 | g.237627878C>A | CA345410660 | RYR2 | c.6238C>A (p.Leu2080Met) c.6190C>A (p.Leu2064Met) c.6268C>A (p.Leu2090Met) c.6265C>A (p.Leu2089Met) c.6235C>A (p.Leu2079Met) n.6549C>A c.6247C>A (p.Leu2083Met) n.6582C>A | |
| 1 | g.237627878C= | CA2487417975 | RYR2 | c.6238C= (p.Leu2080=) c.6190C= (p.Leu2064=) c.6268C= (p.Leu2090=) c.6265C= (p.Leu2089=) c.6235C= (p.Leu2079=) n.6549C= c.6247C= (p.Leu2083=) n.6582C= | |
| 1 | g.237627878C>G | CA345410661 | RYR2 | c.6238C>G (p.Leu2080Val) c.6190C>G (p.Leu2064Val) c.6268C>G (p.Leu2090Val) c.6265C>G (p.Leu2089Val) c.6235C>G (p.Leu2079Val) n.6549C>G c.6247C>G (p.Leu2083Val) n.6582C>G | COSMIC COSMIC |
| 1 | g.237627878C>T | CA423821700 | RYR2 | c.6238C>T (p.Leu2080=) c.6190C>T (p.Leu2064=) c.6268C>T (p.Leu2090=) c.6265C>T (p.Leu2089=) c.6235C>T (p.Leu2079=) n.6549C>T c.6247C>T (p.Leu2083=) n.6582C>T | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237627879T>A | CA345410664 | RYR2 | c.6239T>A (p.Leu2080Gln) c.6191T>A (p.Leu2064Gln) c.6269T>A (p.Leu2090Gln) c.6266T>A (p.Leu2089Gln) c.6236T>A (p.Leu2079Gln) n.6550T>A c.6248T>A (p.Leu2083Gln) n.6583T>A | |
| 1 | g.237627879T>C | CA345410666 | RYR2 | c.6239T>C (p.Leu2080Pro) c.6191T>C (p.Leu2064Pro) c.6269T>C (p.Leu2090Pro) c.6266T>C (p.Leu2089Pro) c.6236T>C (p.Leu2079Pro) n.6550T>C c.6248T>C (p.Leu2083Pro) n.6583T>C | |
| 1 | g.237627879T>G | CA345410670 | RYR2 | c.6239T>G (p.Leu2080Arg) c.6191T>G (p.Leu2064Arg) c.6269T>G (p.Leu2090Arg) c.6266T>G (p.Leu2089Arg) c.6236T>G (p.Leu2079Arg) n.6550T>G c.6248T>G (p.Leu2083Arg) n.6583T>G | |
| 1 | g.237627880G>A | CA423821701 | RYR2 | c.6240G>A (p.Leu2080=) c.6192G>A (p.Leu2064=) c.6270G>A (p.Leu2090=) c.6267G>A (p.Leu2089=) c.6237G>A (p.Leu2079=) n.6551G>A c.6249G>A (p.Leu2083=) n.6584G>A | ClinVar dbSNP gnomAD v4 |
| 1 | g.237627880G>C | CA423821702 | RYR2 | c.6240G>C (p.Leu2080=) c.6192G>C (p.Leu2064=) c.6270G>C (p.Leu2090=) c.6267G>C (p.Leu2089=) c.6237G>C (p.Leu2079=) n.6551G>C c.6249G>C (p.Leu2083=) n.6584G>C | |
| 1 | g.237627880G= | CA2487417976 | RYR2 | c.6240G= (p.Leu2080=) c.6192G= (p.Leu2064=) c.6270G= (p.Leu2090=) c.6267G= (p.Leu2089=) c.6237G= (p.Leu2079=) n.6551G= c.6249G= (p.Leu2083=) n.6584G= | |
| 1 | g.237627880G>T | CA423821703 | RYR2 | c.6240G>T (p.Leu2080=) c.6192G>T (p.Leu2064=) c.6270G>T (p.Leu2090=) c.6267G>T (p.Leu2089=) c.6237G>T (p.Leu2079=) n.6551G>T c.6249G>T (p.Leu2083=) n.6584G>T | |
| 1 | g.237627881G>A | CA074793 | RYR2 | c.6241G>A (p.Val2081Met) c.6193G>A (p.Val2065Met) c.6271G>A (p.Val2091Met) c.6268G>A (p.Val2090Met) c.6238G>A (p.Val2080Met) n.6552G>A c.6250G>A (p.Val2084Met) n.6585G>A | |
| 1 | g.237627881G>C | CA345410678 | RYR2 | c.6241G>C (p.Val2081Leu) c.6193G>C (p.Val2065Leu) c.6271G>C (p.Val2091Leu) c.6268G>C (p.Val2090Leu) c.6238G>C (p.Val2080Leu) n.6552G>C c.6250G>C (p.Val2084Leu) n.6585G>C | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.237627881G>T | CA345410681 | RYR2 | c.6241G>T (p.Val2081Leu) c.6193G>T (p.Val2065Leu) c.6271G>T (p.Val2091Leu) c.6268G>T (p.Val2090Leu) c.6238G>T (p.Val2080Leu) n.6552G>T c.6250G>T (p.Val2084Leu) n.6585G>T | |
| 1 | g.237627882T>A | CA345410685 | RYR2 | c.6242T>A (p.Val2081Glu) c.6194T>A (p.Val2065Glu) c.6272T>A (p.Val2091Glu) c.6269T>A (p.Val2090Glu) c.6239T>A (p.Val2080Glu) n.6553T>A c.6251T>A (p.Val2084Glu) n.6586T>A | |
| 1 | g.237627882T>C | CA345410688 | RYR2 | c.6242T>C (p.Val2081Ala) c.6194T>C (p.Val2065Ala) c.6272T>C (p.Val2091Ala) c.6269T>C (p.Val2090Ala) c.6239T>C (p.Val2080Ala) n.6553T>C c.6251T>C (p.Val2084Ala) n.6586T>C | |
| 1 | g.237627882T>G | CA345410692 | RYR2 | c.6242T>G (p.Val2081Gly) c.6194T>G (p.Val2065Gly) c.6272T>G (p.Val2091Gly) c.6269T>G (p.Val2090Gly) c.6239T>G (p.Val2080Gly) n.6553T>G c.6251T>G (p.Val2084Gly) n.6586T>G | |
| 1 | g.237627883G>A | CA423821704 | RYR2 | c.6243G>A (p.Val2081=) c.6195G>A (p.Val2065=) c.6273G>A (p.Val2091=) c.6270G>A (p.Val2090=) c.6240G>A (p.Val2080=) n.6554G>A c.6252G>A (p.Val2084=) n.6587G>A | |
| 1 | g.237627883G>C | CA423821705 | RYR2 | c.6243G>C (p.Val2081=) c.6195G>C (p.Val2065=) c.6273G>C (p.Val2091=) c.6270G>C (p.Val2090=) c.6240G>C (p.Val2080=) n.6554G>C c.6252G>C (p.Val2084=) n.6587G>C | |
| 1 | g.237627883G>T | CA423821706 | RYR2 | c.6243G>T (p.Val2081=) c.6195G>T (p.Val2065=) c.6273G>T (p.Val2091=) c.6270G>T (p.Val2090=) c.6240G>T (p.Val2080=) n.6554G>T c.6252G>T (p.Val2084=) n.6587G>T | |
| 1 | g.237627884A>C | CA423821707 | RYR2 | c.6244A>C (p.Arg2082=) c.6196A>C (p.Arg2066=) c.6274A>C (p.Arg2092=) c.6271A>C (p.Arg2091=) c.6241A>C (p.Arg2081=) n.6555A>C c.6253A>C (p.Arg2085=) n.6588A>C | gnomAD v4 |
| 1 | g.237627884A>G | CA345410698 | RYR2 | c.6244A>G (p.Arg2082Gly) c.6196A>G (p.Arg2066Gly) c.6274A>G (p.Arg2092Gly) c.6271A>G (p.Arg2091Gly) c.6241A>G (p.Arg2081Gly) n.6555A>G c.6253A>G (p.Arg2085Gly) n.6588A>G | |
| 1 | g.237627884A>T | CA345410697 | RYR2 | c.6244A>T (p.Arg2082Trp) c.6196A>T (p.Arg2066Trp) c.6274A>T (p.Arg2092Trp) c.6271A>T (p.Arg2091Trp) c.6241A>T (p.Arg2081Trp) n.6555A>T c.6253A>T (p.Arg2085Trp) n.6588A>T | |
| 1 | g.237627885G>A | CA087081 | RYR2 | c.6245G>A (p.Arg2082Lys) c.6197G>A (p.Arg2066Lys) c.6275G>A (p.Arg2092Lys) c.6272G>A (p.Arg2091Lys) c.6242G>A (p.Arg2081Lys) n.6556G>A c.6254G>A (p.Arg2085Lys) n.6589G>A | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.237627885G>C | CA345410704 | RYR2 | c.6245G>C (p.Arg2082Thr) c.6197G>C (p.Arg2066Thr) c.6275G>C (p.Arg2092Thr) c.6272G>C (p.Arg2091Thr) c.6242G>C (p.Arg2081Thr) n.6556G>C c.6254G>C (p.Arg2085Thr) n.6589G>C | |
| 1 | g.237627885G= | CA2487417977 | RYR2 | c.6245G= (p.Arg2082=) c.6197G= (p.Arg2066=) c.6275G= (p.Arg2092=) c.6272G= (p.Arg2091=) c.6242G= (p.Arg2081=) n.6556G= c.6254G= (p.Arg2085=) n.6589G= | |
| 1 | g.237627885G>T | CA345410707 | RYR2 | c.6245G>T (p.Arg2082Met) c.6197G>T (p.Arg2066Met) c.6275G>T (p.Arg2092Met) c.6272G>T (p.Arg2091Met) c.6242G>T (p.Arg2081Met) n.6556G>T c.6254G>T (p.Arg2085Met) n.6589G>T | |
| 1 | g.237627886G>A | CA423821708 | RYR2 | c.6246G>A (p.Arg2082=) c.6198G>A (p.Arg2066=) c.6276G>A (p.Arg2092=) c.6273G>A (p.Arg2091=) c.6243G>A (p.Arg2081=) n.6557G>A c.6255G>A (p.Arg2085=) n.6590G>A | gnomAD v4 |
| 1 | g.237627886G>C | CA345410709 | RYR2 | c.6246G>C (p.Arg2082Ser) c.6198G>C (p.Arg2066Ser) c.6276G>C (p.Arg2092Ser) c.6273G>C (p.Arg2091Ser) c.6243G>C (p.Arg2081Ser) n.6557G>C c.6255G>C (p.Arg2085Ser) n.6590G>C | |
| 1 | g.237627886G>T | CA345410713 | RYR2 | c.6246G>T (p.Arg2082Ser) c.6198G>T (p.Arg2066Ser) c.6276G>T (p.Arg2092Ser) c.6273G>T (p.Arg2091Ser) c.6243G>T (p.Arg2081Ser) n.6557G>T c.6255G>T (p.Arg2085Ser) n.6590G>T | |
| 1 | g.237627887G>A | CA345410723 | RYR2 | c.6247G>A (p.Ala2083Thr) c.6199G>A (p.Ala2067Thr) c.6277G>A (p.Ala2093Thr) c.6274G>A (p.Ala2092Thr) c.6244G>A (p.Ala2082Thr) n.6558G>A c.6256G>A (p.Ala2086Thr) n.6591G>A | ClinVar dbSNP |
| 1 | g.237627887G>C | CA345410722 | RYR2 | c.6247G>C (p.Ala2083Pro) c.6199G>C (p.Ala2067Pro) c.6277G>C (p.Ala2093Pro) c.6274G>C (p.Ala2092Pro) c.6244G>C (p.Ala2082Pro) n.6558G>C c.6256G>C (p.Ala2086Pro) n.6591G>C | |
| 1 | g.237627887G>T | CA345410719 | RYR2 | c.6247G>T (p.Ala2083Ser) c.6199G>T (p.Ala2067Ser) c.6277G>T (p.Ala2093Ser) c.6274G>T (p.Ala2092Ser) c.6244G>T (p.Ala2082Ser) n.6558G>T c.6256G>T (p.Ala2086Ser) n.6591G>T | gnomAD v4 COSMIC COSMIC |
| 1 | g.237627888C>A | CA345410729 | RYR2 | c.6248C>A (p.Ala2083Asp) c.6200C>A (p.Ala2067Asp) c.6278C>A (p.Ala2093Asp) c.6275C>A (p.Ala2092Asp) c.6245C>A (p.Ala2082Asp) n.6559C>A c.6257C>A (p.Ala2086Asp) n.6592C>A | COSMIC COSMIC |
| 1 | g.237627888C>G | CA345410731 | RYR2 | c.6248C>G (p.Ala2083Gly) c.6200C>G (p.Ala2067Gly) c.6278C>G (p.Ala2093Gly) c.6275C>G (p.Ala2092Gly) c.6245C>G (p.Ala2082Gly) n.6559C>G c.6257C>G (p.Ala2086Gly) n.6592C>G | COSMIC COSMIC |
| 1 | g.237627888C>T | CA345410735 | RYR2 | c.6248C>T (p.Ala2083Val) c.6200C>T (p.Ala2067Val) c.6278C>T (p.Ala2093Val) c.6275C>T (p.Ala2092Val) c.6245C>T (p.Ala2082Val) n.6559C>T c.6257C>T (p.Ala2086Val) n.6592C>T | COSMIC COSMIC |
| 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 |