| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154535996A>G | CA121055 | G6PD | c.208T>C (p.Tyr70His) c.88T>C c.88T>C (p.Tyr30His) c.*50T>C (n.*50T>C) c.298T>C (p.Tyr100His) n.162T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154535996A= | CA2466724814 | G6PD | c.208T= (p.Tyr70=) c.88T= c.88T= (p.Tyr30=) c.*50T= (n.*50T=) c.298T= (p.Tyr100=) n.162T= | dbSNP |