| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38499123G>A | CA405667117 | RYR1 | c.6907G>A (p.Ala2303Thr) c.6904G>A (p.Ala2302Thr) c.359G>A n.6990G>A | |
| 19 | g.38499123G>C | CA405667118 | RYR1 | c.6907G>C (p.Ala2303Pro) c.6904G>C (p.Ala2302Pro) c.359G>C n.6990G>C | |
| 19 | g.38499123G>T | CA405667120 | RYR1 | c.6907G>T (p.Ala2303Ser) c.6904G>T (p.Ala2302Ser) c.359G>T n.6990G>T | gnomAD v4 |
| 19 | g.38499124C>A | CA405667121 | RYR1 | c.6908C>A (p.Ala2303Glu) c.6905C>A (p.Ala2302Glu) c.360C>A n.6991C>A | |
| 19 | g.38499124C= | CA2335052596 | RYR1 | c.6908C= (p.Ala2303=) c.6905C= (p.Ala2302=) c.360C= n.6991C= | |
| 19 | g.38499124C>G | CA405667123 | RYR1 | c.6908C>G (p.Ala2303Gly) c.6905C>G (p.Ala2302Gly) c.360C>G n.6991C>G | |
| 19 | g.38499124C>T | CA308107247 | RYR1 | c.6908C>T (p.Ala2303Val) c.6905C>T (p.Ala2302Val) c.360C>T n.6991C>T | dbSNP gnomAD v4 |
| 19 | g.38499125A>C | CA507243096 | RYR1 | c.6909A>C (p.Ala2303=) c.6906A>C (p.Ala2302=) c.361A>C n.6992A>C | |
| 19 | g.38499125A>G | CA507243098 | RYR1 | c.6909A>G (p.Ala2303=) c.6906A>G (p.Ala2302=) c.361A>G n.6992A>G | |
| 19 | g.38499125A>T | CA507243095 | RYR1 | c.6909A>T (p.Ala2303=) c.6906A>T (p.Ala2302=) c.361A>T n.6992A>T | |
| 19 | g.38499126G>A | CA068924 | RYR1 | c.6910G>A (p.Gly2304Ser) c.6907G>A (p.Gly2303Ser) c.362G>A n.6993G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38499126G>C | CA405667127 | RYR1 | c.6910G>C (p.Gly2304Arg) c.6907G>C (p.Gly2303Arg) c.362G>C n.6993G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38499126G= | CA2335052597 | RYR1 | c.6910G= (p.Gly2304=) c.6907G= (p.Gly2303=) c.362G= n.6993G= | |
| 19 | g.38499126G>T | CA405667126 | RYR1 | c.6910G>T (p.Gly2304Cys) c.6907G>T (p.Gly2303Cys) c.362G>T n.6993G>T | |
| 19 | g.38499126_38499127insT | CA082243 | RYR1 | c.6910_6911insT (p.Gly2304ValfsTer?) c.6907_6908insT (p.Gly2303ValfsTer?) c.362_363insT n.6993_6994insT | |
| 19 | g.38499127G>A | CA405667130 | RYR1 | c.6911G>A (p.Gly2304Asp) c.6908G>A (p.Gly2303Asp) c.363G>A n.6994G>A | |
| 19 | g.38499127G>C | CA068925 | RYR1 | c.6911G>C (p.Gly2304Ala) c.6908G>C (p.Gly2303Ala) c.363G>C n.6994G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.38499127G= | CA2335052598 | RYR1 | c.6911G= (p.Gly2304=) c.6908G= (p.Gly2303=) c.363G= n.6994G= | |
| 19 | g.38499127G>T | CA405667131 | RYR1 | c.6911G>T (p.Gly2304Val) c.6908G>T (p.Gly2303Val) c.363G>T n.6994G>T | |
| 19 | g.38499128C>A | CA507243106 | RYR1 | c.6912C>A (p.Gly2304=) c.6909C>A (p.Gly2303=) c.364C>A n.6995C>A | |
| 19 | g.38499128C>G | CA507243107 | RYR1 | c.6912C>G (p.Gly2304=) c.6909C>G (p.Gly2303=) c.364C>G n.6995C>G | ClinVar |
| 19 | g.38499128C>T | CA507243108 | RYR1 | c.6912C>T (p.Gly2304=) c.6909C>T (p.Gly2303=) c.364C>T n.6995C>T | |
| 19 | g.38499129T>A | CA405667132 | RYR1 | c.6913T>A (p.Cys2305Ser) c.6910T>A (p.Cys2304Ser) c.365T>A n.6996T>A | |
| 19 | g.38499129T>C | CA405667133 | RYR1 | c.6913T>C (p.Cys2305Arg) c.6910T>C (p.Cys2304Arg) c.365T>C n.6996T>C | |
| 19 | g.38499129T>G | CA405667135 | RYR1 | c.6913T>G (p.Cys2305Gly) c.6910T>G (p.Cys2304Gly) c.365T>G n.6996T>G | |
| 19 | g.38499130G>A | CA405667136 | RYR1 | c.6914G>A (p.Cys2305Tyr) c.6911G>A (p.Cys2304Tyr) c.366G>A n.6997G>A | |
| 19 | g.38499130G>C | CA082270 | RYR1 | c.6914G>C (p.Cys2305Ser) c.6911G>C (p.Cys2304Ser) c.366G>C n.6997G>C | gnomAD v4 |
| 19 | g.38499130G>T | CA405667138 | RYR1 | c.6914G>T (p.Cys2305Phe) c.6911G>T (p.Cys2304Phe) c.366G>T n.6997G>T | |
| 19 | g.38499131T>A | CA405667140 | RYR1 | c.6915T>A (p.Cys2305Ter) c.6912T>A (p.Cys2304Ter) c.367T>A n.6998T>A | |
| 19 | g.38499131T>C | CA507243115 | RYR1 | c.6915T>C (p.Cys2305=) c.6912T>C (p.Cys2304=) c.367T>C n.6998T>C | |
| 19 | g.38499131T>G | CA405667141 | RYR1 | c.6915T>G (p.Cys2305Trp) c.6912T>G (p.Cys2304Trp) c.367T>G n.6998T>G | dbSNP |
| 19 | g.38499132G>A | CA405667142 | RYR1 | c.6916G>A (p.Gly2306Ser) c.6913G>A (p.Gly2305Ser) c.368G>A n.6999G>A | |
| 19 | g.38499132G>C | CA405667144 | RYR1 | c.6916G>C (p.Gly2306Arg) c.6913G>C (p.Gly2305Arg) c.368G>C n.6999G>C | |
| 19 | g.38499132G>T | CA405667146 | RYR1 | c.6916G>T (p.Gly2306Cys) c.6913G>T (p.Gly2305Cys) c.368G>T n.6999G>T | |
| 19 | g.38499133G>A | CA405667151 | RYR1 | c.6917G>A (p.Gly2306Asp) c.6914G>A (p.Gly2305Asp) c.369G>A n.7000G>A | |
| 19 | g.38499133G>C | CA405667149 | RYR1 | c.6917G>C (p.Gly2306Ala) c.6914G>C (p.Gly2305Ala) c.369G>C n.7000G>C | |
| 19 | g.38499133G>T | CA405667148 | RYR1 | c.6917G>T (p.Gly2306Val) c.6914G>T (p.Gly2305Val) c.369G>T n.7000G>T | |
| 19 | g.38499134C>A | CA507243122 | RYR1 | c.6918C>A (p.Gly2306=) c.6915C>A (p.Gly2305=) c.370C>A n.7001C>A | |
| 19 | g.38499134C>G | CA507243124 | RYR1 | c.6918C>G (p.Gly2306=) c.6915C>G (p.Gly2305=) c.370C>G n.7001C>G | |
| 19 | g.38499134C>T | CA507243126 | RYR1 | c.6918C>T (p.Gly2306=) c.6915C>T (p.Gly2305=) c.370C>T n.7001C>T | |
| 19 | g.38499135C>A | CA405667153 | RYR1 | c.6919C>A (p.Leu2307Ile) c.6916C>A (p.Leu2306Ile) c.371C>A n.7002C>A | |
| 19 | g.38499135C>G | CA405667154 | RYR1 | c.6919C>G (p.Leu2307Val) c.6916C>G (p.Leu2306Val) c.371C>G n.7002C>G | |
| 19 | g.38499135C>T | CA405667156 | RYR1 | c.6919C>T (p.Leu2307Phe) c.6916C>T (p.Leu2306Phe) c.371C>T n.7002C>T | gnomAD v4 |
| 19 | g.38499136T>A | CA405667157 | RYR1 | c.6920T>A (p.Leu2307His) c.6917T>A (p.Leu2306His) c.372T>A n.7003T>A | |
| 19 | g.38499136T>C | CA405667159 | RYR1 | c.6920T>C (p.Leu2307Pro) c.6917T>C (p.Leu2306Pro) c.372T>C n.7003T>C | |
| 19 | g.38499136T>G | CA405667161 | RYR1 | c.6920T>G (p.Leu2307Arg) c.6917T>G (p.Leu2306Arg) c.372T>G n.7003T>G | |
| 19 | g.38499137C>A | CA507243133 | RYR1 | c.6921C>A (p.Leu2307=) c.6918C>A (p.Leu2306=) c.373C>A n.7004C>A | |
| 19 | g.38499137C= | CA2335052599 | RYR1 | c.6921C= (p.Leu2307=) c.6918C= (p.Leu2306=) c.373C= n.7004C= | |
| 19 | g.38499137C>G | CA068928 | RYR1 | c.6921C>G (p.Leu2307=) c.6918C>G (p.Leu2306=) c.373C>G n.7004C>G | ClinVar dbSNP ExAC gnomAD v2 |
| 19 | g.38499137C>T | CA507243134 | RYR1 | c.6921C>T (p.Leu2307=) c.6918C>T (p.Leu2306=) c.373C>T n.7004C>T |