Table 1 Summary of variations in the APC gene detected by NGS

From: Attenuated familial adenomatous polyposis with desmoids caused by an APC mutation

Type Mutation: protein alteration dbSNP ID a Ref b Obs c
synonymous SNV c.T5268G: p.S1756S rs866006 T G
synonymous SNV c.G5880A: p.P1960P rs465899 G A
synonymous SNV c.G5034A: p.G1678G rs42427 G A
synonymous SNV c.G4479A: p.T1493T rs41115 G A
synonymous SNV c.G1635A: p.A545A rs351771 G A
nonsynonymous SNV c.T5465A: p.V1822D rs459552 T A
deletion c.7932_7935del: p.Y2645KfsX14 TTAT
  1. Abbreviations: APC, adenomatous polyposis coli; NGS, next-generation sequencing; dbSNP, database for single nucleotide polymorphism; SNV, single nucleotide variant.
  2. aThe number registered in dbSNP human Build 142 at http://www.ncbi.nlm.nih.gov/snp/.
  3. bReference sequence in human genome sequence (GRCh38).
  4. cObserved sequence in this study.