| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38584967G>C | CA024215 | RYR1 | c.1607G>C c.3004G>C c.2976G>C n.64G>C c.14671G>C (p.Gly4891Arg) c.14656G>C (p.Gly4886Arg) c.14653G>C (p.Gly4885Arg) c.14638G>C (p.Gly4880Arg) c.14668G>C (p.Gly4890Arg) c.14584G>C (p.Gly4862Arg) | ClinVar dbSNP |
| 19 | g.38584967G= | CA2335094935 | RYR1 | c.1607G= c.3004G= c.2976G= n.64G= c.14671G= (p.Gly4891=) c.14656G= (p.Gly4886=) c.14653G= (p.Gly4885=) c.14638G= (p.Gly4880=) c.14668G= (p.Gly4890=) c.14584G= (p.Gly4862=) | dbSNP |