| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154535187C>T | CA120945 | G6PD | c.466G>A (p.Glu156Lys) c.329G>A c.346G>A (p.Glu116Lys) c.*308G>A (n.*308G>A) c.556G>A (p.Glu186Lys) n.420G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154535187C= | CA2466724523 | G6PD | c.466G= (p.Glu156=) c.329G= c.346G= (p.Glu116=) c.*308G= (n.*308G=) c.556G= (p.Glu186=) n.420G= | dbSNP |