| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.4370572C>G | CA383416113 | FGF23 | c.527G>C (p.Arg176Pro) c.*1967+4290C>G (n.*1967+4290C>G) c.*1204+4290C>G (n.*1204+4290C>G) | ClinVar dbSNP |
| 12 | g.4370572C>T | CA117217 | FGF23 | c.527G>A (p.Arg176Gln) c.*1967+4290C>T (n.*1967+4290C>T) c.*1204+4290C>T (n.*1204+4290C>T) | ClinVar dbSNP gnomAD v4 COSMIC |