| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.64758696G>C | CA16041505 | PYGM | c.252C>G (p.Tyr84Ter) c.244-430C>G (n.244-430C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.64758696G= | CA1978928654 | PYGM | c.252C= (p.Tyr84=) c.244-430C= (n.244-430C=) | dbSNP |