| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47984112C>T | CA16043472 | COL2A1 | c.1709G>A (p.Gly570Asp) c.1916G>A (p.Gly639Asp) n.840G>A c.2060G>A (p.Gly687Asp) c.2057G>A (p.Gly686Asp) c.1004G>A (p.Gly335Asp) c.1850G>A (p.Gly617Asp) c.1370G>A (p.Gly457Asp) | ClinVar dbSNP |
| 12 | g.47984112C= | CA2034452897 | COL2A1 | c.1709G= (p.Gly570=) c.1916G= (p.Gly639=) n.840G= c.2060G= (p.Gly687=) c.2057G= (p.Gly686=) c.1004G= (p.Gly335=) c.1850G= (p.Gly617=) c.1370G= (p.Gly457=) | dbSNP |