| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.54171644C>T | CA130770 | CYP24A1 | c.476G>A (p.Arg159Gln) c.50G>A (p.Arg17Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54171644C>G | CA9916136 | CYP24A1 | c.476G>C (p.Arg159Pro) c.50G>C (p.Arg17Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54171644C= | CA2370270938 | CYP24A1 | c.476G= (p.Arg159=) c.50G= (p.Arg17=) | dbSNP |