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Table 1 Sequences of the APC coding regions

From: The effect of a germline mutation in the APC gene on β-catenin in human embryonic stem cells

Exon location Position (a.a) Nuc. change Coverage Amino acid change Nuc. name Mutation
E11 332 C > T (het) 51 % R- > (STOP) 332 c.994C > T Germline
E13 486 T- > C (het) 50 % Y- > Y (486) c.1458 T > C rs2229992 Polymorphism
E15 545 G- > A (het) 52 % A- > A (545) c.1635 G > Ars351771 Polymorphism
E17 1317 G- > C (het) 50 % E- > Q (1317) c.3949G > A rs42427 Polymorphism
E17 1493 G- > A (het) 48 % T- > T (1493) c.4479G > A rs41115 Polymorphism
E17 1678 G- > A (het) 51 % G- > G (1678) c.5034G > A rs42427 Polymorphism
E17 1755 GTCT- > ATCG (het) 49 % AS- > AS (1755..1756) c.5265_5268delins Polymorphism
E17 1822 T- > A (homo) 100 % V- > D (1822) c.5465 T > A rs459552 Polymorphism
E17 1960 G- > A (het) 51 % P- > P (1960) c.5880G > A rs465899 Polymorphism
E17 2401 C- > T (het) 53 % L- > L (2401) c.7201C > T rs2229994 Polymorphism
  1. E – exone, het – heterozygote, homo - homozygote, Nuc - nucleotide