| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154534495C>T | CA120953 | G6PD | c.487G>A (p.Gly163Ser) c.490G>A (p.Gly164Ser) c.350G>A c.353G>A c.367G>A (p.Gly123Ser) c.*329G>A (n.*329G>A) c.577G>A (p.Gly193Ser) c.580G>A (p.Gly194Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154534495C= | CA2466724205 | G6PD | c.487G= (p.Gly163=) c.490G= (p.Gly164=) c.350G= c.353G= c.367G= (p.Gly123=) c.*329G= (n.*329G=) c.577G= (p.Gly193=) c.580G= (p.Gly194=) | dbSNP |