| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64753125G>C | CA222882 | PYGM | c.1466C>G (p.Pro489Arg) c.1202C>G (p.Pro401Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64753125G>A | CA381175062 | PYGM | c.1466C>T (p.Pro489Leu) c.1202C>T (p.Pro401Leu) | dbSNP gnomAD v4 |
| 11 | g.64753125G= | CA1978920275 | PYGM | c.1466C= (p.Pro489=) c.1202C= (p.Pro401=) | dbSNP |