| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122283764G>A | CA119533 | CASR | c.1579G>A (p.Glu527Lys) c.1840G>A (p.Glu614Lys) c.1810G>A (p.Glu604Lys) c.1327G>A (p.Glu443Lys) c.1222G>A (p.Glu408Lys) | ClinVar dbSNP COSMIC |
| 3 | g.122283764G= | CA1397870943 | CASR | c.1579G= (p.Glu527=) c.1840G= (p.Glu614=) c.1810G= (p.Glu604=) c.1327G= (p.Glu443=) c.1222G= (p.Glu408=) | dbSNP |