| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89284741G>T | CA8242694 | ANKRD11 | c.1801C>A (p.Arg601=) c.*1604C>A (n.*1604C>A) c.1426C>A (p.Arg476=) c.744+3787C>A (n.744+3787C>A) n.3573C>A n.1793C>A c.151+3787C>A c.1699C>A (p.Arg567=) c.1504C>A (p.Arg502=) c.1672C>A (p.Arg558=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.89284741G>A | CA10603567 | ANKRD11 | c.1801C>T (p.Arg601Ter) c.*1604C>T (n.*1604C>T) c.1426C>T (p.Arg476Ter) c.744+3787C>T (n.744+3787C>T) n.3573C>T n.1793C>T c.151+3787C>T c.1699C>T (p.Arg567Ter) c.1504C>T (p.Arg502Ter) c.1672C>T (p.Arg558Ter) | ClinVar dbSNP COSMIC |