| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237610770G>A | CA009643 | RYR2 | c.4692G>A (p.Met1564Ile) c.4644G>A (p.Met1548Ile) c.4722G>A (p.Met1574Ile) c.4719G>A (p.Met1573Ile) c.4689G>A (p.Met1563Ile) n.5003G>A c.4701G>A (p.Met1567Ile) n.5036G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237610770G= | CA1143498751 | RYR2 | c.4692G= (p.Met1564=) c.4644G= (p.Met1548=) c.4722G= (p.Met1574=) c.4719G= (p.Met1573=) c.4689G= (p.Met1563=) n.5003G= c.4701G= (p.Met1567=) n.5036G= | dbSNP |