| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38572163T>A | CA024074 | RYR1 | c.827T>A c.2224T>A c.2196T>A c.13891T>A (p.Tyr4631Asn) c.13876T>A (p.Tyr4626Asn) c.13873T>A (p.Tyr4625Asn) c.351T>A c.13858T>A (p.Tyr4620Asn) c.13888T>A (p.Tyr4630Asn) c.13804T>A (p.Tyr4602Asn) | ClinVar dbSNP |
| 19 | g.38572163T= | CA2335088418 | RYR1 | c.827T= c.2224T= c.2196T= c.13891T= (p.Tyr4631=) c.13876T= (p.Tyr4626=) c.13873T= (p.Tyr4625=) c.351T= c.13858T= (p.Tyr4620=) c.13888T= (p.Tyr4630=) c.13804T= (p.Tyr4602=) | dbSNP |