| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47974234T>C | CA127170 | COL2A1 | c.3965A>G (p.Tyr1322Cys) c.4172A>G (p.Tyr1391Cys) n.3258A>G c.4316A>G (p.Tyr1439Cys) c.4313A>G (p.Tyr1438Cys) c.3260A>G (p.Tyr1087Cys) c.4106A>G (p.Tyr1369Cys) c.3626A>G (p.Tyr1209Cys) | ClinVar dbSNP |
| 12 | g.47974234T= | CA2034471783 | COL2A1 | c.3965A= (p.Tyr1322=) c.4172A= (p.Tyr1391=) n.3258A= c.4316A= (p.Tyr1439=) c.4313A= (p.Tyr1438=) c.3260A= (p.Tyr1087=) c.4106A= (p.Tyr1369=) c.3626A= (p.Tyr1209=) | dbSNP |