| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.54164552C>T | CA9916012 | CYP24A1 | c.744G>A (p.Thr248=) c.318G>A (p.Thr106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.54164552C>G | CA510910009 | CYP24A1 | c.744G>C (p.Thr248=) c.318G>C (p.Thr106=) | dbSNP gnomAD v4 |
| 20 | g.54164552C= | CA2370267524 | CYP24A1 | c.744G= (p.Thr248=) c.318G= (p.Thr106=) | dbSNP |