| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.50905475A>G | CA341920 | PYGL | c.2461T>C (p.Tyr821His) c.2379+2796T>C (n.2379+2796T>C) c.2359T>C (p.Tyr787His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.50905475A= | CA2136411266 | PYGL | c.2461T= (p.Tyr821=) c.2379+2796T= (n.2379+2796T=) c.2359T= (p.Tyr787=) | dbSNP |