| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47995882C>T | CA16619530 | COL2A1 | c.440G>A (p.Gly147Asp) c.647G>A (p.Gly216Asp) c.791G>A (p.Gly264Asp) c.788G>A (p.Gly263Asp) c.581G>A (p.Gly194Asp) c.101G>A (p.Gly34Asp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47995882C= | CA2034479659 | COL2A1 | c.440G= (p.Gly147=) c.647G= (p.Gly216=) c.791G= (p.Gly264=) c.788G= (p.Gly263=) c.581G= (p.Gly194=) c.101G= (p.Gly34=) | dbSNP |