| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.142912546A>G | CA126943 | CYP11B2,GML | c.1382T>C (p.Leu461Pro) c.182-1417A>G (n.182-1417A>G) c.1529T>C (p.Leu510Pro) c.1460T>C (p.Leu487Pro) c.1451T>C (p.Leu484Pro) c.215-1417A>G (n.215-1417A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.142912546A= | CA1825514465 | CYP11B2,GML | c.1382T= (p.Leu461=) c.182-1417A= (n.182-1417A=) c.1529T= (p.Leu510=) c.1460T= (p.Leu487=) c.1451T= (p.Leu484=) c.215-1417A= (n.215-1417A=) | dbSNP |