Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.4370383G>A | CA6395616 | FGF23 | c.716C>T (p.Thr239Met) c.*1967+4101G>A (n.*1967+4101G>A) c.*1204+4101G>A (n.*1204+4101G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.4370383G= | CA1630855446 | FGF23 | c.716C= (p.Thr239=) c.*1967+4101G= (n.*1967+4101G=) c.*1204+4101G= (n.*1204+4101G=) | dbSNP |