| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.143282014A>G | CA126240 | NR3C1 | c.2209T>C (p.Phe737Leu) c.2116T>C (p.Phe706Leu) c.2212T>C (p.Phe738Leu) c.2181+554T>C (n.2181+554T>C) c.2131T>C (p.Phe711Leu) c.1954T>C (p.Phe652Leu) c.1942T>C (p.Phe648Leu) c.1918T>C (p.Phe640Leu) c.1264T>C (p.Phe422Leu) c.1219T>C (p.Phe407Leu) c.1204T>C (p.Phe402Leu) c.1018T>C (p.Phe340Leu) n.656-2685A>G n.1132T>C | ClinVar dbSNP |
| 5 | g.143282014A= | CA3123367209 | NR3C1 | c.2209T= (p.Phe737=) c.2116T= (p.Phe706=) c.2212T= (p.Phe738=) c.2181+554T= (n.2181+554T=) c.2131T= (p.Phe711=) c.1954T= (p.Phe652=) c.1942T= (p.Phe648=) c.1918T= (p.Phe640=) c.1264T= (p.Phe422=) c.1219T= (p.Phe407=) c.1204T= (p.Phe402=) c.1018T= (p.Phe340=) n.656-2685A= n.1132T= | dbSNP |