| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154535247G>A | CA337318060 | G6PD | c.406C>T (p.Arg136Cys) c.269C>T c.286C>T (p.Arg96Cys) c.*248C>T (n.*248C>T) c.496C>T (p.Arg166Cys) n.360C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.154535247G= | CA2466724543 | G6PD | c.406C= (p.Arg136=) c.269C= c.286C= (p.Arg96=) c.*248C= (n.*248C=) c.496C= (p.Arg166=) n.360C= | dbSNP |