| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.38584986G>T | CA024231 | RYR1 | c.1626G>T c.3023G>T c.2995G>T n.83G>T c.14690G>T (p.Gly4897Val) c.14675G>T (p.Gly4892Val) c.14672G>T (p.Gly4891Val) c.14657G>T (p.Gly4886Val) c.14687G>T (p.Gly4896Val) c.14603G>T (p.Gly4868Val) | ClinVar dbSNP |
| 19 | g.38584986G>A | CA405690291 | RYR1 | c.1626G>A c.3023G>A c.2995G>A n.83G>A c.14690G>A (p.Gly4897Asp) c.14675G>A (p.Gly4892Asp) c.14672G>A (p.Gly4891Asp) c.14657G>A (p.Gly4886Asp) c.14687G>A (p.Gly4896Asp) c.14603G>A (p.Gly4868Asp) | ClinVar dbSNP |