| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18908865G>A | CA255288 | PHKA2 | c.2296C>T (p.Gln766Ter) c.1750C>T (p.Gln584Ter) c.2197C>T (p.Gln733Ter) c.1279C>T (p.Gln427Ter) n.2480C>T c.1390C>T (p.Gln464Ter) n.2466C>T | ClinVar dbSNP |
| X | g.18908865G= | CA2418077729 | PHKA2 | c.2296C= (p.Gln766=) c.1750C= (p.Gln584=) c.2197C= (p.Gln733=) c.1279C= (p.Gln427=) n.2480C= c.1390C= (p.Gln464=) n.2466C= | dbSNP |