| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.57765320T>C | CA115136 | CYP27B1 | n.478A>G c.647A>G (p.Glu216Gly) c.624A>G (p.Gly208=) c.566A>G (p.Glu189Gly) c.-140A>G (n.-140A>G) c.478A>G n.620A>G n.366A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.57765320T= | CA2038989264 | CYP27B1 | n.478A= c.647A= (p.Glu216=) c.624A= (p.Gly208=) c.566A= (p.Glu189=) c.-140A= (n.-140A=) c.478A= n.620A= n.366A= | dbSNP |