| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47987113C>T | CA16619528 | COL2A1 | c.1123G>A (p.Gly375Ser) c.1330G>A (p.Gly444Ser) n.254G>A c.1474G>A (p.Gly492Ser) c.1471G>A (p.Gly491Ser) c.418G>A (p.Gly140Ser) c.1264G>A (p.Gly422Ser) c.784G>A (p.Gly262Ser) | ClinVar dbSNP |
| 12 | g.47987113C= | CA2034458437 | COL2A1 | c.1123G= (p.Gly375=) c.1330G= (p.Gly444=) n.254G= c.1474G= (p.Gly492=) c.1471G= (p.Gly491=) c.418G= (p.Gly140=) c.1264G= (p.Gly422=) c.784G= (p.Gly262=) | dbSNP |