| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64746948G>A | CA474958535 | PYGM | c.2352C>T (p.Cys784=) c.2088C>T (p.Cys696=) n.1705C>T | dbSNP |
| 11 | g.64746948G>T | CA16041493 | PYGM | c.2352C>A (p.Cys784Ter) c.2088C>A (p.Cys696Ter) n.1705C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |