| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284482C>A | CA119519 | CASR | c.2297C>A (p.Ala766Glu) c.2558C>A (p.Ala853Glu) c.2528C>A (p.Ala843Glu) c.2045C>A (p.Ala682Glu) c.1940C>A (p.Ala647Glu) | ClinVar dbSNP |
| 3 | g.122284482C= | CA1397872446 | CASR | c.2297C= (p.Ala766=) c.2558C= (p.Ala853=) c.2528C= (p.Ala843=) c.2045C= (p.Ala682=) c.1940C= (p.Ala647=) | dbSNP |