| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47985560C>G | CA16621635 | COL2A1 | c.1501G>C (p.Gly501Arg) c.1708G>C (p.Gly570Arg) n.632G>C c.1852G>C (p.Gly618Arg) c.1849G>C (p.Gly617Arg) c.796G>C (p.Gly266Arg) c.1642G>C (p.Gly548Arg) c.1162G>C (p.Gly388Arg) | ClinVar dbSNP |
| 12 | g.47985560C= | CA2034455423 | COL2A1 | c.1501G= (p.Gly501=) c.1708G= (p.Gly570=) n.632G= c.1852G= (p.Gly618=) c.1849G= (p.Gly617=) c.796G= (p.Gly266=) c.1642G= (p.Gly548=) c.1162G= (p.Gly388=) | dbSNP |