| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154534389C>G | CA121002 | G6PD | c.593G>C (p.Arg198Pro) c.596G>C (p.Arg199Pro) c.456G>C c.459G>C c.473G>C (p.Arg158Pro) c.*435G>C (n.*435G>C) c.683G>C (p.Arg228Pro) c.686G>C (p.Arg229Pro) | ClinVar dbSNP |
| X | g.154534389C>T | CA121057 | G6PD | c.593G>A (p.Arg198His) c.596G>A (p.Arg199His) c.456G>A c.459G>A c.473G>A (p.Arg158His) c.*435G>A (n.*435G>A) c.683G>A (p.Arg228His) c.686G>A (p.Arg229His) | ClinVar dbSNP gnomAD v4 |