| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47993475C>T | CA127179 | COL2A1 | c.745G>A (p.Gly249Arg) c.952G>A (p.Gly318Arg) c.1096G>A (p.Gly366Arg) c.1093G>A (p.Gly365Arg) c.886G>A (p.Gly296Arg) c.406G>A (p.Gly136Arg) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47993475C= | CA2034477298 | COL2A1 | c.745G= (p.Gly249=) c.952G= (p.Gly318=) c.1096G= (p.Gly366=) c.1093G= (p.Gly365=) c.886G= (p.Gly296=) c.406G= (p.Gly136=) | dbSNP |