| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.218809700C>T | CA345193 | CYP27A1 | c.379C>T (p.Arg127Trp) c.97C>T (p.Arg33Trp) c.256-2522C>T (n.256-2522C>T) n.265-2522C>T n.813C>T c.27-2522C>T (n.27-2522C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.218809700C>G | CA2112579 | CYP27A1 | c.379C>G (p.Arg127Gly) c.97C>G (p.Arg33Gly) c.256-2522C>G (n.256-2522C>G) n.265-2522C>G n.813C>G c.27-2522C>G (n.27-2522C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.218809700C= | CA1328927533 | CYP27A1 | c.379C= (p.Arg127=) c.97C= (p.Arg33=) c.256-2522C= (n.256-2522C=) n.265-2522C= n.813C= c.27-2522C= (n.27-2522C=) | dbSNP |