| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.102989543C>T | CA10606522 | COL11A1 | c.2369G>A (p.Gly790Asp) c.2252G>A (p.Gly751Asp) c.2405G>A (p.Gly802Asp) c.2021G>A (p.Gly674Asp) c.1687G>A c.602G>A (p.Gly201Asp) c.-60G>A (n.-60G>A) n.2767G>A n.2687G>A c.2522G>A (p.Gly841Asp) c.2516G>A (p.Gly839Asp) c.920G>A (p.Gly307Asp) n.2713G>A | ClinVar dbSNP |
| 1 | g.102989543C= | CA1185276613 | COL11A1 | c.2369G= (p.Gly790=) c.2252G= (p.Gly751=) c.2405G= (p.Gly802=) c.2021G= (p.Gly674=) c.1687G= c.602G= (p.Gly201=) c.-60G= (n.-60G=) n.2767G= n.2687G= c.2522G= (p.Gly841=) c.2516G= (p.Gly839=) c.920G= (p.Gly307=) n.2713G= | dbSNP |