| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38500899G>T | CA405670384 | RYR1 | c.7523G>T (p.Arg2508Leu) c.7520G>T (p.Arg2507Leu) c.975G>T n.7606G>T | dbSNP |
| 19 | g.38500899G>A | CA024821 | RYR1 | c.7523G>A (p.Arg2508His) c.7520G>A (p.Arg2507His) c.975G>A n.7606G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38500899G= | CA2335053494 | RYR1 | c.7523G= (p.Arg2508=) c.7520G= (p.Arg2507=) c.975G= n.7606G= | dbSNP |