| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.22227540G>T | CA260506 | PHEX,PTCHD1-AS | c.553G>T (p.Gly185Ter) n.783G>T n.1673G>T c.1999G>T (p.Gly667Ter) c.1243G>T (p.Gly415Ter) c.892G>T (p.Gly298Ter) n.255C>A n.978C>A c.1708G>T (p.Gly570Ter) n.2839G>T | ClinVar dbSNP gnomAD v4 |
| X | g.22227540G= | CA2419211848 | PHEX,PTCHD1-AS | c.553G= (p.Gly185=) n.783G= n.1673G= c.1999G= (p.Gly667=) c.1243G= (p.Gly415=) c.892G= (p.Gly298=) n.255C= n.978C= c.1708G= (p.Gly570=) n.2839G= | dbSNP |