| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122261687T>C | CA354151052 | CASR | c.652T>C (p.Tyr218His) c.169T>C (p.Tyr57His) c.64T>C (p.Tyr22His) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261687T>G | CA16604347 | CASR | c.652T>G (p.Tyr218Asp) c.169T>G (p.Tyr57Asp) c.64T>G (p.Tyr22Asp) | ClinVar dbSNP |