| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.89279485del | CA10603562 | ANKRD11 | c.7062del (p.Ser2355ProfsTer?) c.*6865del (n.*6865del) c.745-4289del (n.745-4289del) c.152-4289del n.237del c.6960del (p.Ser2321ProfsTer?) c.6765del (p.Ser2256ProfsTer?) c.6933del (p.Ser2312ProfsTer?) | ClinVar dbSNP gnomAD v4 |
| 16 | g.89279485dup | CA2499223774 | ANKRD11 | c.7062dup (p.Ser2355LeufsTer?) c.*6865dup (n.*6865dup) c.745-4289dup (n.745-4289dup) c.152-4289dup n.237dup c.6960dup (p.Ser2321LeufsTer?) c.6765dup (p.Ser2256LeufsTer?) c.6933dup (p.Ser2312LeufsTer?) | ClinVar dbSNP gnomAD v4 |