| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.4379372T>C | CA117219 | FGF23 | c.211A>G (p.Ser71Gly) c.*1967+13090T>C (n.*1967+13090T>C) c.*1204+13090T>C (n.*1204+13090T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.4379372T= | CA2013134906 | FGF23 | c.211A= (p.Ser71=) c.*1967+13090T= (n.*1967+13090T=) c.*1204+13090T= (n.*1204+13090T=) | dbSNP |
| 12 | g.4379372T>A | CA383417828 | FGF23 | c.211A>T (p.Ser71Cys) c.*1967+13090T>A (n.*1967+13090T>A) c.*1204+13090T>A (n.*1204+13090T>A) | dbSNP |