| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.32040072G>C | CA129645 | CYP21A2 | c.806G>C (p.Ser269Thr) c.716G>C (p.Ser239Thr) n.864G>C n.922G>C n.975G>C n.918+237G>C c.401G>C (p.Ser134Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.32040072G>A | CA3732548 | CYP21A2 | c.806G>A (p.Ser269Asn) c.716G>A (p.Ser239Asn) n.864G>A n.922G>A n.975G>A n.918+237G>A c.401G>A (p.Ser134Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.32040072G= | CA1619397304 | CYP21A2 | c.806G= (p.Ser269=) c.716G= (p.Ser239=) n.864G= n.922G= n.975G= n.918+237G= c.401G= (p.Ser134=) | dbSNP |