| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122283789T>C | CA119493 | CASR | c.1604T>C (p.Phe535Ser) c.1865T>C (p.Phe622Ser) c.1835T>C (p.Phe612Ser) c.1352T>C (p.Phe451Ser) c.1247T>C (p.Phe416Ser) | ClinVar dbSNP |
| 3 | g.122283789T= | CA1397871010 | CASR | c.1604T= (p.Phe535=) c.1865T= (p.Phe622=) c.1835T= (p.Phe612=) c.1352T= (p.Phe451=) c.1247T= (p.Phe416=) | dbSNP |