| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.22212957C>T | CA255561 | PHEX,PTCHD1-AS | c.253C>T (p.Arg85Ter) n.483C>T n.1373C>T c.1699C>T (p.Arg567Ter) c.943C>T (p.Arg315Ter) c.592C>T (p.Arg198Ter) n.1049-10187G>A c.1408C>T (p.Arg470Ter) n.2539C>T | ClinVar dbSNP |
| X | g.22212957C>A | CA10368321 | PHEX,PTCHD1-AS | c.253C>A (p.Arg85=) n.483C>A n.1373C>A c.1699C>A (p.Arg567=) c.943C>A (p.Arg315=) c.592C>A (p.Arg198=) n.1049-10187G>T c.1408C>A (p.Arg470=) n.2539C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |