| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122283699G>A | CA119477 | CASR | c.1514G>A (p.Cys505Tyr) c.1775G>A (p.Cys592Tyr) c.1745G>A (p.Cys582Tyr) c.1262G>A (p.Cys421Tyr) c.1157G>A (p.Cys386Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283699G>T | CA119545 | CASR | c.1514G>T (p.Cys505Phe) c.1775G>T (p.Cys592Phe) c.1745G>T (p.Cys582Phe) c.1262G>T (p.Cys421Phe) c.1157G>T (p.Cys386Phe) | ClinVar dbSNP |
| 3 | g.122283699G= | CA1397870814 | CASR | c.1514G= (p.Cys505=) c.1775G= (p.Cys592=) c.1745G= (p.Cys582=) c.1262G= (p.Cys421=) c.1157G= (p.Cys386=) | dbSNP |