| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.143282715G>T | CA129252313 | NR3C1 | c.2034C>A (p.Asp678Glu) c.1941C>A (p.Asp647Glu) c.2037C>A (p.Asp679Glu) c.1956C>A (p.Asp652Glu) c.1779C>A (p.Asp593Glu) c.1767C>A (p.Asp589Glu) c.1743C>A (p.Asp581Glu) c.1089C>A (p.Asp363Glu) c.1044C>A (p.Asp348Glu) c.1029C>A (p.Asp343Glu) c.843C>A (p.Asp281Glu) n.656-1984G>T n.957C>A | dbSNP |
| 5 | g.143282715G>A | CA3486724 | NR3C1 | c.2034C>T (p.Asp678=) c.1941C>T (p.Asp647=) c.2037C>T (p.Asp679=) c.1956C>T (p.Asp652=) c.1779C>T (p.Asp593=) c.1767C>T (p.Asp589=) c.1743C>T (p.Asp581=) c.1089C>T (p.Asp363=) c.1044C>T (p.Asp348=) c.1029C>T (p.Asp343=) c.843C>T (p.Asp281=) n.656-1984G>A n.957C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.143282715G>C | CA129252314 | NR3C1 | c.2034C>G (p.Asp678Glu) c.1941C>G (p.Asp647Glu) c.2037C>G (p.Asp679Glu) c.1956C>G (p.Asp652Glu) c.1779C>G (p.Asp593Glu) c.1767C>G (p.Asp589Glu) c.1743C>G (p.Asp581Glu) c.1089C>G (p.Asp363Glu) c.1044C>G (p.Asp348Glu) c.1029C>G (p.Asp343Glu) c.843C>G (p.Asp281Glu) n.656-1984G>C n.957C>G | dbSNP |