| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154533586C>T | CA120941 | G6PD | c.854G>A (p.Arg285His) c.857G>A (p.Arg286His) c.717G>A c.720G>A c.706G>A (p.Val236Met) c.*696G>A (n.*696G>A) c.992G>A (p.Arg331His) c.944G>A (p.Arg315His) n.243G>A c.947G>A (p.Arg316His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.154533586C= | CA2466723827 | G6PD | c.854G= (p.Arg285=) c.857G= (p.Arg286=) c.717G= c.720G= c.706G= (p.Val236=) c.*696G= (n.*696G=) c.992G= (p.Arg331=) c.944G= (p.Arg315=) n.243G= c.947G= (p.Arg316=) | dbSNP |