| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.72582562C>A | CA120813 | PHKA1 | c.3334G>T (p.Glu1112Ter) c.3295G>T (p.Glu1099Ter) c.3385G>T (p.Glu1129Ter) c.3208G>T (p.Glu1070Ter) c.3118G>T (p.Glu1040Ter) c.3157G>T (p.Glu1053Ter) n.4264G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.72582562C= | CA2436817847 | PHKA1 | c.3334G= (p.Glu1112=) c.3295G= (p.Glu1099=) c.3385G= (p.Glu1129=) c.3208G= (p.Glu1070=) c.3118G= (p.Glu1040=) c.3157G= (p.Glu1053=) n.4264G= | dbSNP |