| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.218814186C>T | CA340211 | CYP27A1 | c.1183C>T (p.Arg395Cys) n.1617C>T c.763C>T (p.Arg255Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.218814186C>A | CA340217 | CYP27A1 | c.1183C>A (p.Arg395Ser) n.1617C>A c.763C>A (p.Arg255Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |