| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38483078C>T | CA16620832 | RYR1 | c.4672C>T (p.Gln1558Ter) c.4669C>T (p.Gln1557Ter) n.4755C>T | ClinVar dbSNP |
| 19 | g.38483078C= | CA2335044948 | RYR1 | c.4672C= (p.Gln1558=) c.4669C= (p.Gln1557=) n.4755C= | dbSNP |
| 19 | g.38483078C>G | CA405649472 | RYR1 | c.4672C>G (p.Gln1558Glu) c.4669C>G (p.Gln1557Glu) n.4755C>G | dbSNP gnomAD v4 |