| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122283704A>T | CA16604350 | CASR | c.1519A>T (p.Lys507Ter) c.1780A>T (p.Lys594Ter) c.1750A>T (p.Lys584Ter) c.1267A>T (p.Lys423Ter) c.1162A>T (p.Lys388Ter) | ClinVar dbSNP |
| 3 | g.122283704A= | CA1397870830 | CASR | c.1519A= (p.Lys507=) c.1780A= (p.Lys594=) c.1750A= (p.Lys584=) c.1267A= (p.Lys423=) c.1162A= (p.Lys388=) | dbSNP |