| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237500774G>A | CA008736 | RYR2 | c.2267G>A (p.Ser756Asn) c.2219G>A (p.Ser740Asn) n.2548G>A c.2246G>A (p.Ser749Asn) n.2581G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237500774G= | CA1143355754 | RYR2 | c.2267G= (p.Ser756=) c.2219G= (p.Ser740=) n.2548G= c.2246G= (p.Ser749=) n.2581G= | dbSNP |