| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.144403963_144403964dup | CA253279 | ZEB2 | c.*609_*610dup (n.*609_*610dup) c.-18_-17dup (n.-18_-17dup) c.760_761dup (p.Gln255ProfsTer8) n.729_730dup c.424_425dup (p.Gln143ProfsTer8) c.*477_*478dup (n.*477_*478dup) n.860_861dup c.-133-5113_-133-5112dup (n.-133-5113_-133-5112dup) c.757_758dup (p.Gln254ProfsTer8) c.844_845dup (p.Gln283ProfsTer8) c.499_500dup (p.Gln168ProfsTer8) c.847_848dup (p.Gln284ProfsTer8) c.745_746dup (p.Gln250ProfsTer8) c.688_689dup (p.Gln231ProfsTer8) c.751_752dup (p.Gln252ProfsTer8) c.739_740dup (p.Gln248ProfsTer8) | ClinVar dbSNP |
| 2 | g.144403963_144403964del | CA658657064 | ZEB2 | c.*609_*610del (n.*609_*610del) c.-18_-17del (n.-18_-17del) c.760_761del (p.Thr254ProfsTer25) n.729_730del c.424_425del (p.Thr142ProfsTer25) c.*477_*478del (n.*477_*478del) n.860_861del c.-133-5113_-133-5112del (n.-133-5113_-133-5112del) c.757_758del (p.Thr253ProfsTer25) c.844_845del (p.Thr282ProfsTer25) c.499_500del (p.Thr167ProfsTer25) c.847_848del (p.Thr283ProfsTer25) c.745_746del (p.Thr249ProfsTer25) c.688_689del (p.Thr230ProfsTer25) c.751_752del (p.Thr251ProfsTer25) c.739_740del (p.Thr247ProfsTer25) | ClinVar dbSNP |