| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18945131T>C | CA121116 | PHKA2 | c.565A>G (p.Lys189Glu) c.19A>G (p.Lys7Glu) n.749A>G c.-277A>G (n.-277A>G) n.735A>G | ClinVar dbSNP |
| X | g.18945131T= | CA2418089488 | PHKA2 | c.565A= (p.Lys189=) c.19A= (p.Lys7=) n.749A= c.-277A= (n.-277A=) n.735A= | dbSNP |