| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47979534G>A | CA127163 | COL2A1 | c.2503C>T (p.Arg835Cys) c.2710C>T (p.Arg904Cys) n.1796C>T c.2854C>T (p.Arg952Cys) c.2851C>T (p.Arg951Cys) c.1798C>T (p.Arg600Cys) c.2644C>T (p.Arg882Cys) c.2164C>T (p.Arg722Cys) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.47979534G>C | CA384543874 | COL2A1 | c.2503C>G (p.Arg835Gly) c.2710C>G (p.Arg904Gly) n.1796C>G c.2854C>G (p.Arg952Gly) c.2851C>G (p.Arg951Gly) c.1798C>G (p.Arg600Gly) c.2644C>G (p.Arg882Gly) c.2164C>G (p.Arg722Gly) | dbSNP |
| 12 | g.47979534G= | CA2034444166 | COL2A1 | c.2503C= (p.Arg835=) c.2710C= (p.Arg904=) n.1796C= c.2854C= (p.Arg952=) c.2851C= (p.Arg951=) c.1798C= (p.Arg600=) c.2644C= (p.Arg882=) c.2164C= (p.Arg722=) | dbSNP |