| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112767309del | CA16618068 | APC | c.341del (p.Pro114LeufsTer11) n.397del c.*347del (n.*347del) c.371del (p.Pro124LeufsTer11) c.341del (p.Pro114LeufsTer?) c.266del (p.Pro89LeufsTer11) c.164del (p.Pro55LeufsTer11) c.-695del (n.-695del) | ClinVar dbSNP |
| 5 | g.112767309dup | CA2674864794 | APC | c.341dup (p.Met115TyrfsTer24) n.397dup c.*347dup (n.*347dup) c.371dup (p.Met125TyrfsTer24) c.341dup (p.Met115TyrfsTer?) c.266dup (p.Met90TyrfsTer24) c.164dup (p.Met56TyrfsTer24) c.-695dup (n.-695dup) | dbSNP gnomAD v4 |