| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47983721G>A | CA127176 | COL2A1 | c.1750C>T (p.Arg584Ter) c.1957C>T (p.Arg653Ter) n.135C>T n.881C>T c.2101C>T (p.Arg701Ter) c.2098C>T (p.Arg700Ter) c.1045C>T (p.Arg349Ter) c.1891C>T (p.Arg631Ter) c.1411C>T (p.Arg471Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.47983721G>T | CA479465137 | COL2A1 | c.1750C>A (p.Arg584=) c.1957C>A (p.Arg653=) n.135C>A n.881C>A c.2101C>A (p.Arg701=) c.2098C>A (p.Arg700=) c.1045C>A (p.Arg349=) c.1891C>A (p.Arg631=) c.1411C>A (p.Arg471=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47983721G= | CA2034452236 | COL2A1 | c.1750C= (p.Arg584=) c.1957C= (p.Arg653=) n.135C= n.881C= c.2101C= (p.Arg701=) c.2098C= (p.Arg700=) c.1045C= (p.Arg349=) c.1891C= (p.Arg631=) c.1411C= (p.Arg471=) | dbSNP |
| 12 | g.47983721G>C | CA384548541 | COL2A1 | c.1750C>G (p.Arg584Gly) c.1957C>G (p.Arg653Gly) n.135C>G n.881C>G c.2101C>G (p.Arg701Gly) c.2098C>G (p.Arg700Gly) c.1045C>G (p.Arg349Gly) c.1891C>G (p.Arg631Gly) c.1411C>G (p.Arg471Gly) | dbSNP |