| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47986388C>A | CA250684 | COL2A1 | c.1268G>T (p.Gly423Val) c.1475G>T (p.Gly492Val) n.399G>T c.1619G>T (p.Gly540Val) c.1616G>T (p.Gly539Val) c.563G>T (p.Gly188Val) c.1409G>T (p.Gly470Val) c.929G>T (p.Gly310Val) | ClinVar dbSNP |
| 12 | g.47986388C= | CA2034457025 | COL2A1 | c.1268G= (p.Gly423=) c.1475G= (p.Gly492=) n.399G= c.1619G= (p.Gly540=) c.1616G= (p.Gly539=) c.563G= (p.Gly188=) c.1409G= (p.Gly470=) c.929G= (p.Gly310=) | dbSNP |
| 12 | g.47986388C>T | CA384552651 | COL2A1 | c.1268G>A (p.Gly423Asp) c.1475G>A (p.Gly492Asp) n.399G>A c.1619G>A (p.Gly540Asp) c.1616G>A (p.Gly539Asp) c.563G>A (p.Gly188Asp) c.1409G>A (p.Gly470Asp) c.929G>A (p.Gly310Asp) | ClinVar dbSNP gnomAD v4 |