| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47976043C>G | CA250686 | COL2A1 | c.3310G>C (p.Gly1104Arg) c.3517G>C (p.Gly1173Arg) n.2603G>C n.370G>C c.3661G>C (p.Gly1221Arg) c.3658G>C (p.Gly1220Arg) c.2605G>C (p.Gly869Arg) c.3451G>C (p.Gly1151Arg) c.2971G>C (p.Gly991Arg) | ClinVar dbSNP |
| 12 | g.47976043C= | CA2034474922 | COL2A1 | c.3310G= (p.Gly1104=) c.3517G= (p.Gly1173=) n.2603G= n.370G= c.3661G= (p.Gly1221=) c.3658G= (p.Gly1220=) c.2605G= (p.Gly869=) c.3451G= (p.Gly1151=) c.2971G= (p.Gly991=) | dbSNP |