| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47976531C>G | CA16043470 | COL2A1 | c.3265G>C (p.Gly1089Arg) c.3472G>C (p.Gly1158Arg) n.2558G>C n.325G>C c.3616G>C (p.Gly1206Arg) c.3613G>C (p.Gly1205Arg) c.2560G>C (p.Gly854Arg) c.3406G>C (p.Gly1136Arg) c.2926G>C (p.Gly976Arg) | ClinVar dbSNP |
| 12 | g.47976531C= | CA2034475569 | COL2A1 | c.3265G= (p.Gly1089=) c.3472G= (p.Gly1158=) n.2558G= n.325G= c.3616G= (p.Gly1206=) c.3613G= (p.Gly1205=) c.2560G= (p.Gly854=) c.3406G= (p.Gly1136=) c.2926G= (p.Gly976=) | dbSNP |