| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47974092G>T | CA127171 | COL2A1 | c.4107C>A (p.Cys1369Ter) c.4314C>A (p.Cys1438Ter) n.3400C>A c.4458C>A (p.Cys1486Ter) c.4455C>A (p.Cys1485Ter) c.3402C>A (p.Cys1134Ter) c.4248C>A (p.Cys1416Ter) c.3768C>A (p.Cys1256Ter) | ClinVar dbSNP |
| 12 | g.47974092G>A | CA479449478 | COL2A1 | c.4107C>T (p.Cys1369=) c.4314C>T (p.Cys1438=) n.3400C>T c.4458C>T (p.Cys1486=) c.4455C>T (p.Cys1485=) c.3402C>T (p.Cys1134=) c.4248C>T (p.Cys1416=) c.3768C>T (p.Cys1256=) | dbSNP gnomAD v4 |
| 12 | g.47974092G= | CA2034471497 | COL2A1 | c.4107C= (p.Cys1369=) c.4314C= (p.Cys1438=) n.3400C= c.4458C= (p.Cys1486=) c.4455C= (p.Cys1485=) c.3402C= (p.Cys1134=) c.4248C= (p.Cys1416=) c.3768C= (p.Cys1256=) | dbSNP |