| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.4370564G>A | CA117218 | FGF23 | c.535C>T (p.Arg179Trp) c.*1967+4282G>A (n.*1967+4282G>A) c.*1204+4282G>A (n.*1204+4282G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.4370564G>T | CA6395662 | FGF23 | c.535C>A (p.Arg179=) c.*1967+4282G>T (n.*1967+4282G>T) c.*1204+4282G>T (n.*1204+4282G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.4370564G= | CA2013129461 | FGF23 | c.535C= (p.Arg179=) c.*1967+4282G= (n.*1967+4282G=) c.*1204+4282G= (n.*1204+4282G=) | dbSNP |
| 12 | g.4370564G>C | CA383416098 | FGF23 | c.535C>G (p.Arg179Gly) c.*1967+4282G>C (n.*1967+4282G>C) c.*1204+4282G>C (n.*1204+4282G>C) | dbSNP |