| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47982886G>A | CA127154 | COL2A1 | c.1948C>T (p.Arg650Cys) c.2155C>T (p.Arg719Cys) n.333C>T n.1079C>T c.2299C>T (p.Arg767Cys) c.2296C>T (p.Arg766Cys) c.1243C>T (p.Arg415Cys) c.2089C>T (p.Arg697Cys) c.1609C>T (p.Arg537Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47982886G>C | CA384546981 | COL2A1 | c.1948C>G (p.Arg650Gly) c.2155C>G (p.Arg719Gly) n.333C>G n.1079C>G c.2299C>G (p.Arg767Gly) c.2296C>G (p.Arg766Gly) c.1243C>G (p.Arg415Gly) c.2089C>G (p.Arg697Gly) c.1609C>G (p.Arg537Gly) | dbSNP gnomAD v4 |
| 12 | g.47982886G= | CA2034450491 | COL2A1 | c.1948C= (p.Arg650=) c.2155C= (p.Arg719=) n.333C= n.1079C= c.2299C= (p.Arg767=) c.2296C= (p.Arg766=) c.1243C= (p.Arg415=) c.2089C= (p.Arg697=) c.1609C= (p.Arg537=) | dbSNP |