| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.142912000T>C | CA126948 | CYP11B2,GML | c.1492A>G (p.Thr498Ala) c.182-1963T>C (n.182-1963T>C) c.1639A>G (p.Thr547Ala) c.1570A>G (p.Thr524Ala) c.1561A>G (p.Thr521Ala) c.215-1963T>C (n.215-1963T>C) | ClinVar dbSNP |
| 8 | g.142912000T= | CA1825514155 | CYP11B2,GML | c.1492A= (p.Thr498=) c.182-1963T= (n.182-1963T=) c.1639A= (p.Thr547=) c.1570A= (p.Thr524=) c.1561A= (p.Thr521=) c.215-1963T= (n.215-1963T=) | dbSNP |