| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38499975G>A | CA024738 | RYR1 | c.7282G>A (p.Ala2428Thr) c.7279G>A (p.Ala2427Thr) c.734G>A n.7365G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.38499975G>T | CA405669469 | RYR1 | c.7282G>T (p.Ala2428Ser) c.7279G>T (p.Ala2427Ser) c.734G>T n.7365G>T | ClinVar dbSNP |
| 19 | g.38499975G= | CA2335053035 | RYR1 | c.7282G= (p.Ala2428=) c.7279G= (p.Ala2427=) c.734G= n.7365G= | dbSNP |