Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.143310135C>T | CA126236 | NR3C1 | c.1430G>A (p.Arg477His) c.1433G>A (p.Arg478His) c.1352G>A (p.Arg451His) n.370G>A c.1175G>A (p.Arg392His) c.1163G>A (p.Arg388His) c.1139G>A (p.Arg380His) c.485G>A (p.Arg162His) c.440G>A (p.Arg147His) c.425G>A (p.Arg142His) c.239G>A (p.Arg80His) n.353G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.143310135C= | CA3044572666 | NR3C1 | c.1430G= (p.Arg477=) c.1433G= (p.Arg478=) c.1352G= (p.Arg451=) n.370G= c.1175G= (p.Arg392=) c.1163G= (p.Arg388=) c.1139G= (p.Arg380=) c.485G= (p.Arg162=) c.440G= (p.Arg147=) c.425G= (p.Arg142=) c.239G= (p.Arg80=) n.353G= | dbSNP |