| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38570620G>A | CA024065 | RYR1 | c.609G>A c.2006G>A c.2052-1399G>A c.13673G>A (p.Arg4558Gln) c.13658G>A (p.Arg4553Gln) c.13655G>A (p.Arg4552Gln) c.207-1399G>A c.13640G>A (p.Arg4547Gln) c.13670G>A (p.Arg4557Gln) c.13660-1399G>A (n.13660-1399G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38570620G= | CA2335087711 | RYR1 | c.609G= c.2006G= c.2052-1399G= c.13673G= (p.Arg4558=) c.13658G= (p.Arg4553=) c.13655G= (p.Arg4552=) c.207-1399G= c.13640G= (p.Arg4547=) c.13670G= (p.Arg4557=) c.13660-1399G= (n.13660-1399G=) | dbSNP |