| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47978320T>C | CA250688 | COL2A1 | c.2767A>G (p.Arg923Gly) c.2974A>G (p.Arg992Gly) n.2060A>G c.3118A>G (p.Arg1040Gly) c.3115A>G (p.Arg1039Gly) c.2062A>G (p.Arg688Gly) c.2908A>G (p.Arg970Gly) c.2428A>G (p.Arg810Gly) | ClinVar dbSNP |
| 12 | g.47978320T= | CA2034476825 | COL2A1 | c.2767A= (p.Arg923=) c.2974A= (p.Arg992=) n.2060A= c.3118A= (p.Arg1040=) c.3115A= (p.Arg1039=) c.2062A= (p.Arg688=) c.2908A= (p.Arg970=) c.2428A= (p.Arg810=) | dbSNP |