| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38561442G>A | CA023988 | RYR1 | c.1022G>A c.1004G>A c.12612G>A (p.Trp4204Ter) c.12597G>A (p.Trp4199Ter) c.12594G>A (p.Trp4198Ter) c.5981G>A c.12579G>A (p.Trp4193Ter) c.12609G>A (p.Trp4203Ter) | ClinVar dbSNP |
| 19 | g.38561442G= | CA2335082682 | RYR1 | c.1022G= c.1004G= c.12612G= (p.Trp4204=) c.12597G= (p.Trp4199=) c.12594G= (p.Trp4198=) c.5981G= c.12579G= (p.Trp4193=) c.12609G= (p.Trp4203=) | dbSNP |