| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.22219050G>A | CA16043311 | PHEX,PTCHD1-AS | c.269G>A (p.Gly90Asp) n.499G>A n.1389G>A c.1715G>A (p.Gly572Asp) c.959G>A (p.Gly320Asp) c.608G>A (p.Gly203Asp) n.1048+8420C>T c.1424G>A (p.Gly475Asp) n.2555G>A | ClinVar dbSNP gnomAD v4 |
| X | g.22219050G>T | CA16043263 | PHEX,PTCHD1-AS | c.269G>T (p.Gly90Val) n.499G>T n.1389G>T c.1715G>T (p.Gly572Val) c.959G>T (p.Gly320Val) c.608G>T (p.Gly203Val) n.1048+8420C>A c.1424G>T (p.Gly475Val) n.2555G>T | ClinVar dbSNP |