| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64750557G>A | CA381168208 | PYGM | c.1996C>T (p.Gln666Ter) c.1732C>T (p.Gln578Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.64750557G>T | CA381168212 | PYGM | c.1996C>A (p.Gln666Lys) c.1732C>A (p.Gln578Lys) | dbSNP |
| 11 | g.64750557G>C | CA252201 | PYGM | c.1996C>G (p.Gln666Glu) c.1732C>G (p.Gln578Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |