| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.22190446G>A | CA260502 | PHEX | c.143G>A (p.Trp48Ter) n.373G>A n.1263G>A c.1589G>A (p.Trp530Ter) c.833G>A (p.Trp278Ter) c.482G>A (p.Trp161Ter) c.1298G>A (p.Trp433Ter) n.2429G>A | ClinVar dbSNP |
| X | g.22190446G= | CA2419199225 | PHEX | c.143G= (p.Trp48=) n.373G= n.1263G= c.1589G= (p.Trp530=) c.833G= (p.Trp278=) c.482G= (p.Trp161=) c.1298G= (p.Trp433=) n.2429G= | dbSNP |