| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38505868G>A | CA16043556 | RYR1 | c.8463G>A (p.Trp2821Ter) c.8460G>A (p.Trp2820Ter) c.1915G>A n.8546G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.38505868G= | CA2335056359 | RYR1 | c.8463G= (p.Trp2821=) c.8460G= (p.Trp2820=) c.1915G= n.8546G= | dbSNP |