| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.57764487G>A | CA115135 | CYP27B1 | c.1108C>T (p.Leu370Phe) c.*32C>T (n.*32C>T) c.1027C>T (p.Leu343Phe) c.322C>T (p.Leu108Phe) n.1166C>T | ClinVar dbSNP |
| 12 | g.57764487G= | CA2038987576 | CYP27B1 | c.1108C= (p.Leu370=) c.*32C= (n.*32C=) c.1027C= (p.Leu343=) c.322C= (p.Leu108=) n.1166C= | dbSNP |