| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154533044C>T | CA121019 | G6PD | c.949G>A (p.Glu317Lys) c.952G>A (p.Glu318Lys) c.812G>A c.815G>A c.801G>A (n.801G>A) c.865-242G>A (n.865-242G>A) c.*409G>A (n.*409G>A) c.956G>A (p.Arg319Gln) c.*791G>A (n.*791G>A) c.1087G>A (p.Glu363Lys) c.1039G>A (p.Glu347Lys) n.31G>A c.1042G>A (p.Glu348Lys) c.958-242G>A (n.958-242G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154533044C= | CA2466723600 | G6PD | c.949G= (p.Glu317=) c.952G= (p.Glu318=) c.812G= c.815G= c.801G= (n.801G=) c.865-242G= (n.865-242G=) c.*409G= (n.*409G=) c.956G= (p.Arg319=) c.*791G= (n.*791G=) c.1087G= (p.Glu363=) c.1039G= (p.Glu347=) n.31G= c.1042G= (p.Glu348=) c.958-242G= (n.958-242G=) | dbSNP |