| 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 |
| 12 | g.47980941C= | CA2034446840 | COL2A1 | c.2284G= (p.Gly762=) c.2491G= (p.Gly831=) n.1577G= c.2635G= (p.Gly879=) c.2632G= (p.Gly878=) c.1579G= (p.Gly527=) n.83+202C= c.2425G= (p.Gly809=) c.1945G= (p.Gly649=) | dbSNP |
| 12 | g.47980941C>A | CA384544965 | COL2A1 | c.2284G>T (p.Gly762Ter) c.2491G>T (p.Gly831Ter) n.1577G>T c.2635G>T (p.Gly879Ter) c.2632G>T (p.Gly878Ter) c.1579G>T (p.Gly527Ter) n.83+202C>A c.2425G>T (p.Gly809Ter) c.1945G>T (p.Gly649Ter) | ClinVar dbSNP gnomAD v4 |