Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.22133586T>C | CA412574676 | PHEX | n.1040T>C c.1366T>C (p.Trp456Arg) c.610T>C (p.Trp204Arg) c.259T>C (p.Trp87Arg) c.1075T>C (p.Trp359Arg) n.2045T>C | ClinVar dbSNP |
X | g.22133586T>G | CA412574675 | PHEX | n.1040T>G c.1366T>G (p.Trp456Gly) c.610T>G (p.Trp204Gly) c.259T>G (p.Trp87Gly) c.1075T>G (p.Trp359Gly) n.2045T>G | ClinVar dbSNP |