| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38499223G>A | CA024662 | RYR1 | c.7007G>A (p.Arg2336His) c.7004G>A (p.Arg2335His) c.459G>A n.7090G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.38499223G>T | CA405667456 | RYR1 | c.7007G>T (p.Arg2336Leu) c.7004G>T (p.Arg2335Leu) c.459G>T n.7090G>T | ClinVar dbSNP |
| 19 | g.38499223G= | CA2335052633 | RYR1 | c.7007G= (p.Arg2336=) c.7004G= (p.Arg2335=) c.459G= n.7090G= | dbSNP |