| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47979519C>A | CA250678 | COL2A1 | c.2518G>T (p.Gly840Cys) c.2725G>T (p.Gly909Cys) n.1811G>T c.2869G>T (p.Gly957Cys) c.2866G>T (p.Gly956Cys) c.1813G>T (p.Gly605Cys) c.2659G>T (p.Gly887Cys) c.2179G>T (p.Gly727Cys) | ClinVar dbSNP |
| 12 | g.47979519C>T | CA384543805 | COL2A1 | c.2518G>A (p.Gly840Ser) c.2725G>A (p.Gly909Ser) n.1811G>A c.2869G>A (p.Gly957Ser) c.2866G>A (p.Gly956Ser) c.1813G>A (p.Gly605Ser) c.2659G>A (p.Gly887Ser) c.2179G>A (p.Gly727Ser) | ClinVar dbSNP |
| 12 | g.47979519C= | CA2034444124 | COL2A1 | c.2518G= (p.Gly840=) c.2725G= (p.Gly909=) n.1811G= c.2869G= (p.Gly957=) c.2866G= (p.Gly956=) c.1813G= (p.Gly605=) c.2659G= (p.Gly887=) c.2179G= (p.Gly727=) | dbSNP |