| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38512253T>C | CA024970 | RYR1 | c.9181T>C (n.9181T>C) c.9242T>C (p.Met3081Thr) c.9239T>C (p.Met3080Thr) c.2644T>C c.49T>C n.9275T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38512253T= | CA2335059602 | RYR1 | c.9181T= (n.9181T=) c.9242T= (p.Met3081=) c.9239T= (p.Met3080=) c.2644T= c.49T= n.9275T= | dbSNP |