| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47978674G>A | CA16606625 | COL2A1 | c.2611C>T (p.Arg871Ter) c.2818C>T (p.Arg940Ter) n.1904C>T c.2962C>T (p.Arg988Ter) c.2959C>T (p.Arg987Ter) c.1906C>T (p.Arg636Ter) c.2752C>T (p.Arg918Ter) c.2272C>T (p.Arg758Ter) | ClinVar dbSNP |
| 12 | g.47978674G= | CA2034476985 | COL2A1 | c.2611C= (p.Arg871=) c.2818C= (p.Arg940=) n.1904C= c.2962C= (p.Arg988=) c.2959C= (p.Arg987=) c.1906C= (p.Arg636=) c.2752C= (p.Arg918=) c.2272C= (p.Arg758=) | dbSNP |
| 12 | g.47978674G>T | CA479696767 | COL2A1 | c.2611C>A (p.Arg871=) c.2818C>A (p.Arg940=) n.1904C>A c.2962C>A (p.Arg988=) c.2959C>A (p.Arg987=) c.1906C>A (p.Arg636=) c.2752C>A (p.Arg918=) c.2272C>A (p.Arg758=) | ClinVar dbSNP |