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. 2017 Jun 8;26(16):3212–3220. doi: 10.1093/hmg/ddx204

Table 2.

Nonsynonymous variants identified through targeted sequencing of the LAMB4 gene. LAMB4 was sequenced from genomic DNA isolated from 148 patients with sporadic diverticulitis and the five members of the proband family. Not including the variant identified in the proband family, seven variants with scaled CADD scores above 10 were identified in 52 of the samples. All the variants were confirmed by Sanger sequencing. Variant in the proband family is number 4 on the list.

Chr. Position Reference Nucleotide Alternate Nucleotide Reference Amino Acid Alternate Amino Acid Residue Number Scaled CADD RS Number ExAC Freq. Our Data Set Freq. Our data set
1 7 107746432 G A H Y 234 25.8 rs2074749 0.029 0.026 4
2 7 107706895 T C N S 866 25.1 rs2240445 0.028 0.0128 2
3 7 107696101 A C V G 1244 24.8 rs147992634 0.005 0.00641 1
4 7 107738905 C T D N 435 23.9 0.0192 3
5 7 107746309 G A R C 275 23.4 0.0004 0.00641 1
6 7 107749668 C G R T 117 17.75 rs149874137 0.015 0.0128 2
7 7 107720162 C A V F 591 15.13 rs9690688 0.095 0.128 20
8 7 107720090 G T P T 615 13.76 0.0003 0.00641 1
9 7 107677984 G A H Y 1510 8.412 rs1627354 0.097 0.115 18