| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.22114464C>T | CA16043225 | PHEX | c.1177C>T (p.Gln393Ter) n.854C>T c.1180C>T (p.Gln394Ter) c.424C>T (p.Gln142Ter) c.73C>T (p.Gln25Ter) c.889C>T (p.Gln297Ter) n.1859C>T | ClinVar dbSNP |
| X | g.22114464C= | CA2419174828 | PHEX | c.1177C= (p.Gln393=) n.854C= c.1180C= (p.Gln394=) c.424C= (p.Gln142=) c.73C= (p.Gln25=) c.889C= (p.Gln297=) n.1859C= | dbSNP |