| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33165983C>A | CA3750080 | COL11A2 | n.236G>T c.4430G>T (p.Gly1477Val) c.4109G>T (p.Gly1370Val) c.4172G>T (p.Gly1391Val) n.273-167G>T c.3584G>T (p.Gly1195Val) c.3716G>T (p.Gly1239Val) c.3536G>T (p.Gly1179Val) c.3473G>T (p.Gly1158Val) c.3317G>T (p.Gly1106Val) c.3248G>T (p.Gly1083Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.33165983C>T | CA363619639 | COL11A2 | n.236G>A c.4430G>A (p.Gly1477Asp) c.4109G>A (p.Gly1370Asp) c.4172G>A (p.Gly1391Asp) n.273-167G>A c.3584G>A (p.Gly1195Asp) c.3716G>A (p.Gly1239Asp) c.3536G>A (p.Gly1179Asp) c.3473G>A (p.Gly1158Asp) c.3317G>A (p.Gly1106Asp) c.3248G>A (p.Gly1083Asp) | dbSNP gnomAD v2 |