| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38587333T>A | CA16621739 | RYR1 | c.1957+757T>A c.3363T>A c.3335T>A n.423T>A c.15030T>A (p.Tyr5010Ter) c.15015T>A (p.Tyr5005Ter) c.15012T>A (p.Tyr5004Ter) c.14997T>A (p.Tyr4999Ter) c.15027T>A (p.Tyr5009Ter) c.14943T>A (p.Tyr4981Ter) | ClinVar dbSNP |
| 19 | g.38587333T= | CA2335096106 | RYR1 | c.1957+757T= c.3363T= c.3335T= n.423T= c.15030T= (p.Tyr5010=) c.15015T= (p.Tyr5005=) c.15012T= (p.Tyr5004=) c.14997T= (p.Tyr4999=) c.15027T= (p.Tyr5009=) c.14943T= (p.Tyr4981=) | dbSNP dbSNP |