| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47982142C>T | CA250666 | COL2A1 | c.2113G>A (p.Gly705Ser) c.2320G>A (p.Gly774Ser) n.498G>A n.1244G>A c.2464G>A (p.Gly822Ser) c.2461G>A (p.Gly821Ser) c.1408G>A (p.Gly470Ser) n.209-273C>T c.2254G>A (p.Gly752Ser) c.1774G>A (p.Gly592Ser) | ClinVar dbSNP |
| 12 | g.47982142C= | CA2034449175 | COL2A1 | c.2113G= (p.Gly705=) c.2320G= (p.Gly774=) n.498G= n.1244G= c.2464G= (p.Gly822=) c.2461G= (p.Gly821=) c.1408G= (p.Gly470=) n.209-273C= c.2254G= (p.Gly752=) c.1774G= (p.Gly592=) | dbSNP |