| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.142915123T>C | CA4906184 | CYP11B2,GML | c.518A>G (p.Lys173Arg) c.264+1078T>C (n.264+1078T>C) c.596A>G (p.Lys199Arg) c.297+1078T>C (n.297+1078T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.142915123T= | CA1630835253 | CYP11B2,GML | c.518A= (p.Lys173=) c.264+1078T= (n.264+1078T=) c.596A= (p.Lys199=) c.297+1078T= (n.297+1078T=) | dbSNP |