| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.54158136G>C | CA9915866 | CYP24A1 | c.1186C>G (p.Arg396Gly) c.760C>G (p.Arg254Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.54158136G>A | CA128554 | CYP24A1 | c.1186C>T (p.Arg396Trp) c.760C>T (p.Arg254Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54158136G= | CA2370264653 | CYP24A1 | c.1186C= (p.Arg396=) c.760C= (p.Arg254=) | dbSNP |