| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122283782G>T | CA16604428 | CASR | c.1597G>T (p.Glu533Ter) c.1858G>T (p.Glu620Ter) c.1828G>T (p.Glu610Ter) c.1345G>T (p.Glu449Ter) c.1240G>T (p.Glu414Ter) | ClinVar dbSNP |
| 3 | g.122283782G= | CA1397871002 | CASR | c.1597G= (p.Glu533=) c.1858G= (p.Glu620=) c.1828G= (p.Glu610=) c.1345G= (p.Glu449=) c.1240G= (p.Glu414=) | dbSNP |