| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18897299G>T | CA255291 | PHKA2 | c.3146C>A (p.Ser1049Ter) n.871C>A n.546C>A n.238C>A c.3092C>A (p.Ser1031Ter) c.3062C>A (p.Ser1021Ter) c.3170C>A (p.Ser1057Ter) c.2624C>A (p.Ser875Ter) c.3071C>A (p.Ser1024Ter) c.2153C>A (p.Ser718Ter) n.4679C>A c.2264C>A (p.Ser755Ter) n.5274C>A n.3351C>A n.4665C>A | ClinVar dbSNP |
| X | g.18897299G>A | CA327028922 | PHKA2 | c.3146C>T (p.Ser1049Leu) n.871C>T n.546C>T n.238C>T c.3092C>T (p.Ser1031Leu) c.3062C>T (p.Ser1021Leu) c.3170C>T (p.Ser1057Leu) c.2624C>T (p.Ser875Leu) c.3071C>T (p.Ser1024Leu) c.2153C>T (p.Ser718Leu) n.4679C>T c.2264C>T (p.Ser755Leu) n.5274C>T n.3351C>T n.4665C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |