| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38500898C>G | CA024816 | RYR1 | c.7522C>G (p.Arg2508Gly) c.7519C>G (p.Arg2507Gly) c.974C>G n.7605C>G | ClinVar dbSNP |
| 19 | g.38500898C>T | CA024819 | RYR1 | c.7522C>T (p.Arg2508Cys) c.7519C>T (p.Arg2507Cys) c.974C>T n.7605C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 19 | g.38500898C>A | CA405670382 | RYR1 | c.7522C>A (p.Arg2508Ser) c.7519C>A (p.Arg2507Ser) c.974C>A n.7605C>A | ClinVar dbSNP |
| 19 | g.38500898C= | CA2335053493 | RYR1 | c.7522C= (p.Arg2508=) c.7519C= (p.Arg2507=) c.974C= n.7605C= | dbSNP |