| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47987085C>G | CA251239 | COL2A1 | c.1151G>C (p.Gly384Ala) c.1358G>C (p.Gly453Ala) n.282G>C c.1502G>C (p.Gly501Ala) c.1499G>C (p.Gly500Ala) c.446G>C (p.Gly149Ala) c.1292G>C (p.Gly431Ala) c.812G>C (p.Gly271Ala) | ClinVar dbSNP |
| 12 | g.47987085C>T | CA384553700 | COL2A1 | c.1151G>A (p.Gly384Asp) c.1358G>A (p.Gly453Asp) n.282G>A c.1502G>A (p.Gly501Asp) c.1499G>A (p.Gly500Asp) c.446G>A (p.Gly149Asp) c.1292G>A (p.Gly431Asp) c.812G>A (p.Gly271Asp) | ClinVar dbSNP |