| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122262218T>C | CA16042449 | CASR | c.1183T>C (p.Cys395Arg) c.700T>C (p.Cys234Arg) c.595T>C (p.Cys199Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122262218T= | CA1397873651 | CASR | c.1183T= (p.Cys395=) c.700T= (p.Cys234=) c.595T= (p.Cys199=) | dbSNP |