| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33167822G>T | CA449870284 | COL11A2 | c.3991C>A (p.Arg1331=) c.3670C>A (p.Arg1224=) c.3733C>A (p.Arg1245=) n.273-2006C>A c.3145C>A (p.Arg1049=) c.3277C>A (p.Arg1093=) c.3097C>A (p.Arg1033=) c.3034C>A (p.Arg1012=) c.2878C>A (p.Arg960=) c.2809C>A (p.Arg937=) | dbSNP gnomAD v4 |
| 6 | g.33167822G>A | CA127099 | COL11A2 | c.3991C>T (p.Arg1331Ter) c.3670C>T (p.Arg1224Ter) c.3733C>T (p.Arg1245Ter) n.273-2006C>T c.3145C>T (p.Arg1049Ter) c.3277C>T (p.Arg1093Ter) c.3097C>T (p.Arg1033Ter) c.3034C>T (p.Arg1012Ter) c.2878C>T (p.Arg960Ter) c.2809C>T (p.Arg937Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |