| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38585037G>C | CA024244 | RYR1 | c.1677G>C c.3074G>C c.3046G>C n.134G>C c.14741G>C (p.Arg4914Thr) c.14726G>C (p.Arg4909Thr) c.14723G>C (p.Arg4908Thr) c.14708G>C (p.Arg4903Thr) c.14738G>C (p.Arg4913Thr) c.14654G>C (p.Arg4885Thr) | ClinVar dbSNP |
| 19 | g.38585037G= | CA2335094975 | RYR1 | c.1677G= c.3074G= c.3046G= n.134G= c.14741G= (p.Arg4914=) c.14726G= (p.Arg4909=) c.14723G= (p.Arg4908=) c.14708G= (p.Arg4903=) c.14738G= (p.Arg4913=) c.14654G= (p.Arg4885=) | dbSNP |