| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47978389C>T | CA250680 | COL2A1 | c.2698G>A (p.Gly900Ser) c.2905G>A (p.Gly969Ser) n.1991G>A c.3049G>A (p.Gly1017Ser) c.3046G>A (p.Gly1016Ser) c.1993G>A (p.Gly665Ser) c.2839G>A (p.Gly947Ser) c.2359G>A (p.Gly787Ser) | ClinVar dbSNP |
| 12 | g.47978389C= | CA2034476849 | COL2A1 | c.2698G= (p.Gly900=) c.2905G= (p.Gly969=) n.1991G= c.3049G= (p.Gly1017=) c.3046G= (p.Gly1016=) c.1993G= (p.Gly665=) c.2839G= (p.Gly947=) c.2359G= (p.Gly787=) | dbSNP |