| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.57764148G>A | CA6658200 | CYP27B1 | c.1246C>T (p.Arg416Cys) c.*170C>T (n.*170C>T) c.1165C>T (p.Arg389Cys) c.460C>T (p.Arg154Cys) n.1304C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.57764148G>C | CA115134 | CYP27B1 | c.1246C>G (p.Arg416Gly) c.*170C>G (n.*170C>G) c.1165C>G (p.Arg389Gly) c.460C>G (p.Arg154Gly) n.1304C>G | ClinVar dbSNP |