| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47984103C>A | CA16606628 | COL2A1 | c.1718G>T (p.Gly573Val) c.1925G>T (p.Gly642Val) n.849G>T c.2069G>T (p.Gly690Val) c.2066G>T (p.Gly689Val) c.1013G>T (p.Gly338Val) c.1859G>T (p.Gly620Val) c.1379G>T (p.Gly460Val) | ClinVar dbSNP |
| 12 | g.47984103C= | CA2034452844 | COL2A1 | c.1718G= (p.Gly573=) c.1925G= (p.Gly642=) n.849G= c.2069G= (p.Gly690=) c.2066G= (p.Gly689=) c.1013G= (p.Gly338=) c.1859G= (p.Gly620=) c.1379G= (p.Gly460=) | dbSNP |