| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284134T>A | CA119541 | CASR | c.1949T>A (p.Leu650Gln) c.2210T>A (p.Leu737Gln) c.2180T>A (p.Leu727Gln) c.1697T>A (p.Leu566Gln) c.1592T>A (p.Leu531Gln) | ClinVar dbSNP |
| 3 | g.122284134T= | CA1397871757 | CASR | c.1949T= (p.Leu650=) c.2210T= (p.Leu737=) c.2180T= (p.Leu727=) c.1697T= (p.Leu566=) c.1592T= (p.Leu531=) | dbSNP |