| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284595T>C | CA119515 | CASR | c.2410T>C (p.Phe804Leu) c.2671T>C (p.Phe891Leu) c.2641T>C (p.Phe881Leu) c.2158T>C (p.Phe720Leu) c.2053T>C (p.Phe685Leu) | ClinVar dbSNP |
| 3 | g.122284595T= | CA1397872698 | CASR | c.2410T= (p.Phe804=) c.2671T= (p.Phe891=) c.2641T= (p.Phe881=) c.2158T= (p.Phe720=) c.2053T= (p.Phe685=) | dbSNP |