| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.40307477T>C | CA791645 | COL9A2 | c.977A>G (p.Gln326Arg) n.1280A>G c.989A>G (p.Gln330Arg) c.707A>G (p.Gln236Arg) c.434A>G (p.Gln145Arg) c.695A>G (p.Gln232Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.40307477T>G | CA21041666 | COL9A2 | c.977A>C (p.Gln326Pro) n.1280A>C c.989A>C (p.Gln330Pro) c.707A>C (p.Gln236Pro) c.434A>C (p.Gln145Pro) c.695A>C (p.Gln232Pro) | dbSNP |
| 1 | g.40307477T>A | CA21041667 | COL9A2 | c.977A>T (p.Gln326Leu) n.1280A>T c.989A>T (p.Gln330Leu) c.707A>T (p.Gln236Leu) c.434A>T (p.Gln145Leu) c.695A>T (p.Gln232Leu) | dbSNP |