| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47985946C>T | CA250701 | COL2A1 | c.1340G>A (p.Gly447Asp) c.1547G>A (p.Gly516Asp) n.471G>A c.1691G>A (p.Gly564Asp) c.1688G>A (p.Gly563Asp) c.635G>A (p.Gly212Asp) c.1481G>A (p.Gly494Asp) c.1001G>A (p.Gly334Asp) | ClinVar dbSNP |
| 12 | g.47985946C= | CA2034456232 | COL2A1 | c.1340G= (p.Gly447=) c.1547G= (p.Gly516=) n.471G= c.1691G= (p.Gly564=) c.1688G= (p.Gly563=) c.635G= (p.Gly212=) c.1481G= (p.Gly494=) c.1001G= (p.Gly334=) | dbSNP |