| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122283963G>T | CA354158296 | CASR | c.1778G>T (p.Gly593Val) c.2039G>T (p.Gly680Val) c.2009G>T (p.Gly670Val) c.1526G>T (p.Gly509Val) c.1421G>T (p.Gly474Val) | ClinVar dbSNP |
| 3 | g.122283963G>A | CA119497 | CASR | c.1778G>A (p.Gly593Glu) c.2039G>A (p.Gly680Glu) c.2009G>A (p.Gly670Glu) c.1526G>A (p.Gly509Glu) c.1421G>A (p.Gly474Glu) | ClinVar dbSNP |