| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47994440C>T | CA127156 | COL2A1 | c.593G>A (p.Gly198Asp) c.800G>A (p.Gly267Asp) c.944G>A (p.Gly315Asp) c.941G>A (p.Gly314Asp) c.734G>A (p.Gly245Asp) c.254G>A (p.Gly85Asp) | ClinVar dbSNP |
| 12 | g.47994440C= | CA2034478093 | COL2A1 | c.593G= (p.Gly198=) c.800G= (p.Gly267=) c.944G= (p.Gly315=) c.941G= (p.Gly314=) c.734G= (p.Gly245=) c.254G= (p.Gly85=) | dbSNP |