| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237639068C>T | CA010458 | RYR2 | c.6982C>T (p.Pro2328Ser) c.6934C>T (p.Pro2312Ser) c.7012C>T (p.Pro2338Ser) c.7009C>T (p.Pro2337Ser) c.6979C>T (p.Pro2327Ser) n.7293C>T c.6991C>T (p.Pro2331Ser) n.7326C>T | ClinVar dbSNP |
| 1 | g.237639068C>G | CA345395838 | RYR2 | c.6982C>G (p.Pro2328Ala) c.6934C>G (p.Pro2312Ala) c.7012C>G (p.Pro2338Ala) c.7009C>G (p.Pro2337Ala) c.6979C>G (p.Pro2327Ala) n.7293C>G c.6991C>G (p.Pro2331Ala) n.7326C>G | ClinVar dbSNP |
| 1 | g.237639068C= | CA1141581462 | RYR2 | c.6982C= (p.Pro2328=) c.6934C= (p.Pro2312=) c.7012C= (p.Pro2338=) c.7009C= (p.Pro2337=) c.6979C= (p.Pro2327=) n.7293C= c.6991C= (p.Pro2331=) n.7326C= | dbSNP |