| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47981829C>T | CA236523992 | COL2A1 | c.2149G>A (p.Gly717Ser) c.2356G>A (p.Gly786Ser) n.534G>A n.1442G>A c.2500G>A (p.Gly834Ser) c.2497G>A (p.Gly833Ser) c.1444G>A (p.Gly482Ser) n.208+403C>T c.2290G>A (p.Gly764Ser) c.1810G>A (p.Gly604Ser) | dbSNP gnomAD v2 |
| 12 | g.47981829C= | CA2034448643 | COL2A1 | c.2149G= (p.Gly717=) c.2356G= (p.Gly786=) n.534G= n.1442G= c.2500G= (p.Gly834=) c.2497G= (p.Gly833=) c.1444G= (p.Gly482=) n.208+403C= c.2290G= (p.Gly764=) c.1810G= (p.Gly604=) | dbSNP |