| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154535270A>C | CA415238638 | G6PD | c.383T>G (p.Leu128Arg) c.246T>G c.263T>G (p.Leu88Arg) c.*225T>G (n.*225T>G) c.473T>G (p.Leu158Arg) n.337T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.154535270A>G | CA203034 | G6PD | c.383T>C (p.Leu128Pro) c.246T>C c.263T>C (p.Leu88Pro) c.*225T>C (n.*225T>C) c.473T>C (p.Leu158Pro) n.337T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |