Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.4379421C>G | CA213692 | FGF23 | c.162G>C (p.Gln54His) c.*1967+13139C>G (n.*1967+13139C>G) c.*1204+13139C>G (n.*1204+13139C>G) | ClinVar dbSNP |
12 | g.4379421C= | CA2013134968 | FGF23 | c.162G= (p.Gln54=) c.*1967+13139C= (n.*1967+13139C=) c.*1204+13139C= (n.*1204+13139C=) | dbSNP |