| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38494564C>T | CA024590 | RYR1 | c.6487C>T (p.Arg2163Cys) c.6484C>T (p.Arg2162Cys) n.6570C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.38494564C>G | CA405664293 | RYR1 | c.6487C>G (p.Arg2163Gly) c.6484C>G (p.Arg2162Gly) n.6570C>G | ClinVar dbSNP |
| 19 | g.38494564C= | CA2335050281 | RYR1 | c.6487C= (p.Arg2163=) c.6484C= (p.Arg2162=) n.6570C= | dbSNP |