| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38584992G>A | CA024237 | RYR1 | c.1632G>A c.3029G>A c.3001G>A n.89G>A c.14696G>A (p.Gly4899Glu) c.14681G>A (p.Gly4894Glu) c.14678G>A (p.Gly4893Glu) c.14663G>A (p.Gly4888Glu) c.14693G>A (p.Gly4898Glu) c.14609G>A (p.Gly4870Glu) | ClinVar dbSNP |
| 19 | g.38584992G= | CA2335094951 | RYR1 | c.1632G= c.3029G= c.3001G= n.89G= c.14696G= (p.Gly4899=) c.14681G= (p.Gly4894=) c.14678G= (p.Gly4893=) c.14663G= (p.Gly4888=) c.14693G= (p.Gly4898=) c.14609G= (p.Gly4870=) | dbSNP |