Table 1. Summary of variations in the APC gene detected by NGS.
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 | — |
Abbreviations: APC, adenomatous polyposis coli; NGS, next-generation sequencing; dbSNP, database for single nucleotide polymorphism; SNV, single nucleotide variant.
The number registered in dbSNP human Build 142 at http://www.ncbi.nlm.nih.gov/snp/.
Reference sequence in human genome sequence (GRCh38).
Observed sequence in this study.