| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.143298796G>A | CA3486806 | NR3C1 | c.1764C>T (p.His588=) c.1671C>T (p.His557=) c.1767C>T (p.His589=) c.1686C>T (p.His562=) c.1509C>T (p.His503=) c.1497C>T (p.His499=) c.1473C>T (p.His491=) c.819C>T (p.His273=) c.774C>T (p.His258=) c.759C>T (p.His253=) c.573C>T (p.His191=) n.687C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.143298796G>C | CA361869751 | NR3C1 | c.1764C>G (p.His588Gln) c.1671C>G (p.His557Gln) c.1767C>G (p.His589Gln) c.1686C>G (p.His562Gln) c.1509C>G (p.His503Gln) c.1497C>G (p.His499Gln) c.1473C>G (p.His491Gln) c.819C>G (p.His273Gln) c.774C>G (p.His258Gln) c.759C>G (p.His253Gln) c.573C>G (p.His191Gln) n.687C>G | dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.143298796G= | CA2832600826 | NR3C1 | c.1764C= (p.His588=) c.1671C= (p.His557=) c.1767C= (p.His589=) c.1686C= (p.His562=) c.1509C= (p.His503=) c.1497C= (p.His499=) c.1473C= (p.His491=) c.819C= (p.His273=) c.774C= (p.His258=) c.759C= (p.His253=) c.573C= (p.His191=) n.687C= | dbSNP |