| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284565G>T | CA16604790 | CASR | c.2380G>T (p.Glu794Ter) c.2641G>T (p.Glu881Ter) c.2611G>T (p.Glu871Ter) c.2128G>T (p.Glu710Ter) c.2023G>T (p.Glu675Ter) | ClinVar dbSNP |
| 3 | g.122284565G= | CA1397872631 | CASR | c.2380G= (p.Glu794=) c.2641G= (p.Glu881=) c.2611G= (p.Glu871=) c.2128G= (p.Glu710=) c.2023G= (p.Glu675=) | dbSNP |