| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89284345G>T | CA497375336 | ANKRD11 | c.2197C>A (p.Arg733=) c.*2000C>A (n.*2000C>A) c.1822C>A (p.Arg608=) c.744+4183C>A (n.744+4183C>A) n.3969C>A c.151+4183C>A c.2095C>A (p.Arg699=) c.1900C>A (p.Arg634=) c.2068C>A (p.Arg690=) | dbSNP |
| 16 | g.89284345G>A | CA10603433 | ANKRD11 | c.2197C>T (p.Arg733Ter) c.*2000C>T (n.*2000C>T) c.1822C>T (p.Arg608Ter) c.744+4183C>T (n.744+4183C>T) n.3969C>T c.151+4183C>T c.2095C>T (p.Arg699Ter) c.1900C>T (p.Arg634Ter) c.2068C>T (p.Arg690Ter) | ClinVar dbSNP |