| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237492989C>T | CA008635 | RYR2 | c.1863C>T (p.His621=) c.1815C>T (p.His605=) n.2144C>T c.1842C>T (p.His614=) n.2177C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237492989C= | CA1140474340 | RYR2 | c.1863C= (p.His621=) c.1815C= (p.His605=) n.2144C= c.1842C= (p.His614=) n.2177C= | dbSNP |