| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122283800C>G | CA119513 | CASR | c.1615C>G (p.Leu539Val) c.1876C>G (p.Leu626Val) c.1846C>G (p.Leu616Val) c.1363C>G (p.Leu455Val) c.1258C>G (p.Leu420Val) | ClinVar dbSNP |
| 3 | g.122283800C= | CA1397871033 | CASR | c.1615C= (p.Leu539=) c.1876C= (p.Leu626=) c.1846C= (p.Leu616=) c.1363C= (p.Leu455=) c.1258C= (p.Leu420=) | dbSNP |