| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47985575G>A | CA281746 | COL2A1 | c.1486C>T (p.Arg496Cys) c.1693C>T (p.Arg565Cys) n.617C>T c.1837C>T (p.Arg613Cys) c.1834C>T (p.Arg612Cys) c.781C>T (p.Arg261Cys) c.1627C>T (p.Arg543Cys) c.1147C>T (p.Arg383Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.47985575G= | CA2034455448 | COL2A1 | c.1486C= (p.Arg496=) c.1693C= (p.Arg565=) n.617C= c.1837C= (p.Arg613=) c.1834C= (p.Arg612=) c.781C= (p.Arg261=) c.1627C= (p.Arg543=) c.1147C= (p.Arg383=) | dbSNP |
| 12 | g.47985575G>C | CA384551168 | COL2A1 | c.1486C>G (p.Arg496Gly) c.1693C>G (p.Arg565Gly) n.617C>G c.1837C>G (p.Arg613Gly) c.1834C>G (p.Arg612Gly) c.781C>G (p.Arg261Gly) c.1627C>G (p.Arg543Gly) c.1147C>G (p.Arg383Gly) | ClinVar dbSNP |