| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47995910C>G | CA384523950 | COL2A1 | c.412G>C (p.Gly138Arg) c.619G>C (p.Gly207Arg) c.763G>C (p.Gly255Arg) c.760G>C (p.Gly254Arg) c.553G>C (p.Gly185Arg) c.73G>C (p.Gly25Arg) | ClinVar dbSNP |
| 12 | g.47995910C>T | CA357206 | COL2A1 | c.412G>A (p.Gly138Arg) c.619G>A (p.Gly207Arg) c.763G>A (p.Gly255Arg) c.760G>A (p.Gly254Arg) c.553G>A (p.Gly185Arg) c.73G>A (p.Gly25Arg) | ClinVar dbSNP |
| 12 | g.47995910C= | CA2034479714 | COL2A1 | c.412G= (p.Gly138=) c.619G= (p.Gly207=) c.763G= (p.Gly255=) c.760G= (p.Gly254=) c.553G= (p.Gly185=) c.73G= (p.Gly25=) | dbSNP |