| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38499718G>A | CA16043555 | RYR1 | c.7111G>A (p.Glu2371Lys) c.7108G>A (p.Glu2370Lys) c.563G>A n.7194G>A | ClinVar dbSNP |
| 19 | g.38499718G= | CA2335052898 | RYR1 | c.7111G= (p.Glu2371=) c.7108G= (p.Glu2370=) c.563G= n.7194G= | dbSNP |