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Table 1 Patients with clinical suspicion of familial adenomatous polyposis and mutation characteristics

From: Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis

Total 53
Phenotype
 Typical FAP 18
 Attenuated FAP 35
 Age of onset 39 (19–81)
Gene panel results
 Pathogenic APC variants 25
  Sequence variation 23
  Deletion or duplication 2
 Patients without pathogenic variants 28
Further analysis
 Mosaicism 7
 Unexplained 21