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.
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