| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.143282714C>T | CA126238 | NR3C1 | c.2035G>A (p.Gly679Ser) c.1942G>A (p.Gly648Ser) c.2038G>A (p.Gly680Ser) c.1957G>A (p.Gly653Ser) c.1780G>A (p.Gly594Ser) c.1768G>A (p.Gly590Ser) c.1744G>A (p.Gly582Ser) c.1090G>A (p.Gly364Ser) c.1045G>A (p.Gly349Ser) c.1030G>A (p.Gly344Ser) c.844G>A (p.Gly282Ser) n.656-1985C>T n.958G>A | ClinVar dbSNP gnomAD v4 |
| 5 | g.143282714C= | CA3046671915 | NR3C1 | c.2035G= (p.Gly679=) c.1942G= (p.Gly648=) c.2038G= (p.Gly680=) c.1957G= (p.Gly653=) c.1780G= (p.Gly594=) c.1768G= (p.Gly590=) c.1744G= (p.Gly582=) c.1090G= (p.Gly364=) c.1045G= (p.Gly349=) c.1030G= (p.Gly344=) c.844G= (p.Gly282=) n.656-1985C= n.958G= | dbSNP |