| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154535261C>T | CA10566251 | G6PD | c.392G>A (p.Gly131Glu) c.255G>A c.272G>A (p.Gly91Glu) c.*234G>A (n.*234G>A) c.482G>A (p.Gly161Glu) n.346G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154535261C>A | CA121025 | G6PD | c.392G>T (p.Gly131Val) c.255G>T c.272G>T (p.Gly91Val) c.*234G>T (n.*234G>T) c.482G>T (p.Gly161Val) n.346G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |