Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.143281982A>G | CA129252227 | NR3C1 | c.2241T>C (p.Ile747=) c.2148T>C (p.Ile716=) c.2244T>C (p.Ile748=) c.2181+586T>C (n.2181+586T>C) c.2163T>C (p.Ile721=) c.1986T>C (p.Ile662=) c.1974T>C (p.Ile658=) c.1950T>C (p.Ile650=) c.1296T>C (p.Ile432=) c.1251T>C (p.Ile417=) c.1236T>C (p.Ile412=) c.1050T>C (p.Ile350=) n.656-2717A>G n.1164T>C | dbSNP gnomAD v3 gnomAD v4 |
5 | g.143281982A>C | CA126227 | NR3C1 | c.2241T>G (p.Ile747Met) c.2148T>G (p.Ile716Met) c.2244T>G (p.Ile748Met) c.2181+586T>G (n.2181+586T>G) c.2163T>G (p.Ile721Met) c.1986T>G (p.Ile662Met) c.1974T>G (p.Ile658Met) c.1950T>G (p.Ile650Met) c.1296T>G (p.Ile432Met) c.1251T>G (p.Ile417Met) c.1236T>G (p.Ile412Met) c.1050T>G (p.Ile350Met) n.656-2717A>C n.1164T>G | ClinVar dbSNP |