| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284316T>C | CA119529 | CASR | c.2131T>C (p.Phe711Leu) c.2392T>C (p.Phe798Leu) c.2362T>C (p.Phe788Leu) c.1879T>C (p.Phe627Leu) c.1774T>C (p.Phe592Leu) | ClinVar dbSNP |
| 3 | g.122284316T= | CA1397872174 | CASR | c.2131T= (p.Phe711=) c.2392T= (p.Phe798=) c.2362T= (p.Phe788=) c.1879T= (p.Phe627=) c.1774T= (p.Phe592=) | dbSNP |