| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.22227569_22227573dup | CA16043219 | PHEX,PTCHD1-AS | c.582_586dup (p.Phe196SerfsTer11) n.812_816dup n.1702_1706dup c.2028_2032dup (p.Phe678SerfsTer11) c.1272_1276dup (p.Phe426SerfsTer11) c.921_925dup (p.Phe309SerfsTer11) n.225_229dup n.948_952dup c.1737_1741dup (p.Phe581SerfsTer11) n.2868_2872dup | ClinVar dbSNP |
| X | g.22227569_22227573del | CA2580100537 | PHEX,PTCHD1-AS | c.582_586del (p.Thr195HisfsTer?) c.582_586del (p.Thr195HisfsTer26) n.812_816del n.1702_1706del c.2028_2032del (p.Thr677HisfsTer?) c.1272_1276del (p.Thr425HisfsTer?) c.921_925del (p.Thr308HisfsTer?) n.225_229del n.948_952del c.1737_1741del (p.Thr580HisfsTer?) n.2868_2872del | ClinVar dbSNP |