| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154532752C>T | CA120981 | G6PD | c.1102G>A (p.Glu368Lys) c.1105G>A (p.Glu369Lys) c.965G>A c.968G>A c.954G>A (n.954G>A) c.*15G>A (n.*15G>A) c.*562G>A (n.*562G>A) c.*62G>A (n.*62G>A) c.*944G>A (n.*944G>A) c.1240G>A (p.Glu414Lys) c.1192G>A (p.Glu398Lys) n.323G>A c.1195G>A (p.Glu399Lys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.154532752C= | CA2466723468 | G6PD | c.1102G= (p.Glu368=) c.1105G= (p.Glu369=) c.965G= c.968G= c.954G= (n.954G=) c.*15G= (n.*15G=) c.*562G= (n.*562G=) c.*62G= (n.*62G=) c.*944G= (n.*944G=) c.1240G= (p.Glu414=) c.1192G= (p.Glu398=) n.323G= c.1195G= (p.Glu399=) | dbSNP |