| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.4370563C>T | CA213694 | FGF23 | c.536G>A (p.Arg179Gln) c.*1967+4281C>T (n.*1967+4281C>T) c.*1204+4281C>T (n.*1204+4281C>T) | ClinVar dbSNP ExAC gnomAD v2 COSMIC |
| 12 | g.4370563C>G | CA383416096 | FGF23 | c.536G>C (p.Arg179Pro) c.*1967+4281C>G (n.*1967+4281C>G) c.*1204+4281C>G (n.*1204+4281C>G) | dbSNP |
| 12 | g.4370563C= | CA2013129460 | FGF23 | c.536G= (p.Arg179=) c.*1967+4281C= (n.*1967+4281C=) c.*1204+4281C= (n.*1204+4281C=) | dbSNP |