| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47980941C>G | CA384544967 | COL2A1 | c.2284G>C (p.Gly762Arg) c.2491G>C (p.Gly831Arg) n.1577G>C c.2635G>C (p.Gly879Arg) c.2632G>C (p.Gly878Arg) c.1579G>C (p.Gly527Arg) n.83+202C>G c.2425G>C (p.Gly809Arg) c.1945G>C (p.Gly649Arg) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47980941C>T | CA16619525 | COL2A1 | c.2284G>A (p.Gly762Arg) c.2491G>A (p.Gly831Arg) n.1577G>A c.2635G>A (p.Gly879Arg) c.2632G>A (p.Gly878Arg) c.1579G>A (p.Gly527Arg) n.83+202C>T c.2425G>A (p.Gly809Arg) c.1945G>A (p.Gly649Arg) | ClinVar dbSNP gnomAD v4 |