| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154534157A>G | CA519305249 | G6PD | c.648T>C (p.Phe216=) c.651T>C (p.Phe217=) c.511T>C c.514T>C c.528T>C (p.Phe176=) c.*490T>C (n.*490T>C) c.738T>C (p.Phe246=) n.37T>C c.741T>C (p.Phe247=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534157A>C | CA120965 | G6PD | c.648T>G (p.Phe216Leu) c.651T>G (p.Phe217Leu) c.511T>G c.514T>G c.528T>G (p.Phe176Leu) c.*490T>G (n.*490T>G) c.738T>G (p.Phe246Leu) n.37T>G c.741T>G (p.Phe247Leu) | ClinVar dbSNP |