| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.57764755G>C | CA115131 | CYP27B1 | c.1043C>G (p.Thr348Arg) c.1020C>G (p.His340Gln) c.962C>G (p.Thr321Arg) c.257C>G (p.Thr86Arg) n.1101C>G n.762C>G | ClinVar dbSNP |
| 12 | g.57764755G>A | CA385504257 | CYP27B1 | c.1043C>T (p.Thr348Met) c.1020C>T (p.His340=) c.962C>T (p.Thr321Met) c.257C>T (p.Thr86Met) n.1101C>T n.762C>T | dbSNP gnomAD v4 |
| 12 | g.57764755G= | CA2038988083 | CYP27B1 | c.1043C= (p.Thr348=) c.1020C= (p.His340=) c.962C= (p.Thr321=) c.257C= (p.Thr86=) n.1101C= n.762C= | dbSNP |