| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64751970A>C | CA252213 | PYGM | c.1722T>G (p.Tyr574Ter) c.1458T>G (p.Tyr486Ter) n.46T>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.64751970A>T | CA381170552 | PYGM | c.1722T>A (p.Tyr574Ter) c.1458T>A (p.Tyr486Ter) n.46T>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.64751970A>G | CA223899025 | PYGM | c.1722T>C (p.Tyr574=) c.1458T>C (p.Tyr486=) n.46T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |