| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.74338761A>T | CA127241 | CYP11A1 | c.1244T>A (p.Val415Glu) c.770T>A (p.Val257Glu) c.1165T>A (p.Cys389Ser) n.87T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.74338761A= | CA2187637117 | CYP11A1 | c.1244T= (p.Val415=) c.770T= (p.Val257=) c.1165T= (p.Cys389=) n.87T= | dbSNP |
| 15 | g.74338761A>C | CA393146347 | CYP11A1 | c.1244T>G (p.Val415Gly) c.770T>G (p.Val257Gly) c.1165T>G (p.Cys389Gly) n.87T>G | ClinVar dbSNP |