| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47977609dup | CA16042898 | COL2A1 | c.2949dup (p.Gly984TrpfsTer5) c.3156dup (p.Gly1053TrpfsTer5) n.2242dup c.3300dup (p.Gly1101TrpfsTer5) c.3297dup (p.Gly1100TrpfsTer5) c.2244dup (p.Gly749TrpfsTer5) c.3090dup (p.Gly1031TrpfsTer5) c.2610dup (p.Gly871TrpfsTer5) | ClinVar dbSNP |
| 12 | g.47977609A= | CA3192155717 | COL2A1 | c.2949T= (p.Ala983=) c.3156T= (p.Ala1052=) n.2242T= c.3300T= (p.Ala1100=) c.3297T= (p.Ala1099=) c.2244T= (p.Ala748=) c.3090T= (p.Ala1030=) c.2610T= (p.Ala870=) | dbSNP |