| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47980017C>G | CA250699 | COL2A1 | c.2464G>C (p.Gly822Arg) c.2671G>C (p.Gly891Arg) n.1757G>C c.2815G>C (p.Gly939Arg) c.2812G>C (p.Gly938Arg) c.1759G>C (p.Gly587Arg) c.2605G>C (p.Gly869Arg) c.2125G>C (p.Gly709Arg) | ClinVar dbSNP |
| 12 | g.47980017C>T | CA384544184 | COL2A1 | c.2464G>A (p.Gly822Ser) c.2671G>A (p.Gly891Ser) n.1757G>A c.2815G>A (p.Gly939Ser) c.2812G>A (p.Gly938Ser) c.1759G>A (p.Gly587Ser) c.2605G>A (p.Gly869Ser) c.2125G>A (p.Gly709Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47980017C= | CA2034445023 | COL2A1 | c.2464G= (p.Gly822=) c.2671G= (p.Gly891=) n.1757G= c.2815G= (p.Gly939=) c.2812G= (p.Gly938=) c.1759G= (p.Gly587=) c.2605G= (p.Gly869=) c.2125G= (p.Gly709=) | dbSNP |