| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284317T>G | CA119509 | CASR | c.2132T>G (p.Phe711Cys) c.2393T>G (p.Phe798Cys) c.2363T>G (p.Phe788Cys) c.1880T>G (p.Phe627Cys) c.1775T>G (p.Phe592Cys) | ClinVar dbSNP |
| 3 | g.122284317T>C | CA354159632 | CASR | c.2132T>C (p.Phe711Ser) c.2393T>C (p.Phe798Ser) c.2363T>C (p.Phe788Ser) c.1880T>C (p.Phe627Ser) c.1775T>C (p.Phe592Ser) | ClinVar dbSNP |