| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38499997G>A | CA024750 | RYR1 | c.7304G>A (p.Arg2435His) c.7301G>A (p.Arg2434His) c.756G>A n.7387G>A | ClinVar dbSNP gnomAD v4 |
| 19 | g.38499997G>T | CA024753 | RYR1 | c.7304G>T (p.Arg2435Leu) c.7301G>T (p.Arg2434Leu) c.756G>T n.7387G>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.38499997G= | CA2335053045 | RYR1 | c.7304G= (p.Arg2435=) c.7301G= (p.Arg2434=) c.756G= n.7387G= | dbSNP |