| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.143281905A>G | CA126234 | NR3C1 | c.2318T>C (p.Leu773Pro) c.2225T>C (p.Leu742Pro) c.2321T>C (p.Leu774Pro) c.2181+663T>C (n.2181+663T>C) c.2240T>C (p.Leu747Pro) c.2063T>C (p.Leu688Pro) c.2051T>C (p.Leu684Pro) c.2027T>C (p.Leu676Pro) c.1373T>C (p.Leu458Pro) c.1328T>C (p.Leu443Pro) c.1313T>C (p.Leu438Pro) c.1127T>C (p.Leu376Pro) n.656-2794A>G n.1241T>C | ClinVar dbSNP |
| 5 | g.143281905A= | CA2581520106 | NR3C1 | c.2318T= (p.Leu773=) c.2225T= (p.Leu742=) c.2321T= (p.Leu774=) c.2181+663T= (n.2181+663T=) c.2240T= (p.Leu747=) c.2063T= (p.Leu688=) c.2051T= (p.Leu684=) c.2027T= (p.Leu676=) c.1373T= (p.Leu458=) c.1328T= (p.Leu443=) c.1313T= (p.Leu438=) c.1127T= (p.Leu376=) n.656-2794A= n.1241T= | dbSNP |