| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38561362G>A | CA16043557 | RYR1 | c.942G>A c.924G>A c.12532G>A (p.Gly4178Ser) c.12517G>A (p.Gly4173Ser) c.12514G>A (p.Gly4172Ser) c.5901G>A c.12499G>A (p.Gly4167Ser) c.12529G>A (p.Gly4177Ser) | ClinVar dbSNP |
| 19 | g.38561362G= | CA2335082635 | RYR1 | c.942G= c.924G= c.12532G= (p.Gly4178=) c.12517G= (p.Gly4173=) c.12514G= (p.Gly4172=) c.5901G= c.12499G= (p.Gly4167=) c.12529G= (p.Gly4177=) | dbSNP |