| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47989245C>G | CA384555283 | COL2A1 | c.898G>C (p.Gly300Arg) c.1105G>C (p.Gly369Arg) c.1249G>C (p.Gly417Arg) c.1246G>C (p.Gly416Arg) c.1039G>C (p.Gly347Arg) c.559G>C (p.Gly187Arg) | ClinVar dbSNP |
| 12 | g.47989245C>T | CA384555285 | COL2A1 | c.898G>A (p.Gly300Ser) c.1105G>A (p.Gly369Ser) c.1249G>A (p.Gly417Ser) c.1246G>A (p.Gly416Ser) c.1039G>A (p.Gly347Ser) c.559G>A (p.Gly187Ser) | dbSNP gnomAD v4 |
| 12 | g.47989245C= | CA2034461390 | COL2A1 | c.898G= (p.Gly300=) c.1105G= (p.Gly369=) c.1249G= (p.Gly417=) c.1246G= (p.Gly416=) c.1039G= (p.Gly347=) c.559G= (p.Gly187=) | dbSNP |