| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284371T>C | CA119483 | CASR | c.2186T>C (p.Phe729Ser) c.2447T>C (p.Phe816Ser) c.2417T>C (p.Phe806Ser) c.1934T>C (p.Phe645Ser) c.1829T>C (p.Phe610Ser) | ClinVar dbSNP |
| 3 | g.122284371T>G | CA354159754 | CASR | c.2186T>G (p.Phe729Cys) c.2447T>G (p.Phe816Cys) c.2417T>G (p.Phe806Cys) c.1934T>G (p.Phe645Cys) c.1829T>G (p.Phe610Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284371T>A | CA82748962 | CASR | c.2186T>A (p.Phe729Tyr) c.2447T>A (p.Phe816Tyr) c.2417T>A (p.Phe806Tyr) c.1934T>A (p.Phe645Tyr) c.1829T>A (p.Phe610Tyr) | ClinVar dbSNP |