| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122283791G>C | CA16611196 | CASR | c.1606G>C (p.Gly536Arg) c.1867G>C (p.Gly623Arg) c.1837G>C (p.Gly613Arg) c.1354G>C (p.Gly452Arg) c.1249G>C (p.Gly417Arg) | ClinVar dbSNP |
| 3 | g.122283791G>A | CA354157556 | CASR | c.1606G>A (p.Gly536Arg) c.1867G>A (p.Gly623Arg) c.1837G>A (p.Gly613Arg) c.1354G>A (p.Gly452Arg) c.1249G>A (p.Gly417Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.122283791G= | CA1397871022 | CASR | c.1606G= (p.Gly536=) c.1867G= (p.Gly623=) c.1837G= (p.Gly613=) c.1354G= (p.Gly452=) c.1249G= (p.Gly417=) | dbSNP |