| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.237377361C>G | CA345375521 | RYR2 | c.502C>G (p.Gln168Glu) c.454C>G (p.Gln152Glu) n.783C>G c.481C>G (p.Gln161Glu) n.816C>G | ClinVar dbSNP |
| 1 | g.237377361C= | CA2487310772 | RYR2 | c.502C= (p.Gln168=) c.454C= (p.Gln152=) n.783C= c.481C= (p.Gln161=) n.816C= | dbSNP |