| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.57763798G>A | CA115132 | CYP27B1 | c.1307C>T (p.Thr436Ile) c.*231C>T (n.*231C>T) c.1226C>T (p.Thr409Ile) n.1365C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.57763798G= | CA2039015561 | CYP27B1 | c.1307C= (p.Thr436=) c.*231C= (n.*231C=) c.1226C= (p.Thr409=) n.1365C= | dbSNP |