| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154535330A>T | CA415239051 | G6PD | c.323T>A (p.Val108Glu) c.186T>A c.203T>A (p.Val68Glu) c.*165T>A (n.*165T>A) c.413T>A (p.Val138Glu) n.277T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.154535330A= | CA2466724570 | G6PD | c.323T= (p.Val108=) c.186T= c.203T= (p.Val68=) c.*165T= (n.*165T=) c.413T= (p.Val138=) n.277T= | dbSNP |