| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47989769C>T | CA250673 | COL2A1 | c.853G>A (p.Gly285Arg) c.1060G>A (p.Gly354Arg) c.1204G>A (p.Gly402Arg) c.1201G>A (p.Gly401Arg) c.994G>A (p.Gly332Arg) c.514G>A (p.Gly172Arg) | ClinVar dbSNP COSMIC COSMIC |
| 12 | g.47989769C= | CA2034462020 | COL2A1 | c.853G= (p.Gly285=) c.1060G= (p.Gly354=) c.1204G= (p.Gly402=) c.1201G= (p.Gly401=) c.994G= (p.Gly332=) c.514G= (p.Gly172=) | dbSNP |