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. 2014 Nov 26;11:19. doi: 10.1186/s12979-014-0019-3

Table 2.

Stop gain/nonsynonymous SNPs identified by exome sequencing

Variant coordinates SNP ID Gene Function Nucleotide changes MAF* (%)
chr1:111784045 - CHI3L2 Nonsynonymous G-- > A
chr1:113162494 rs41283062 CAPZA1 Nonsynonymous G-- > A 1.380
chr1:114367793 rs140698521 PTPN22 Nonsynonymous C-- > T 0.064
chr1:156105704 rs56816490 LMNA Nonsynonymous G-- > A
chr4:2744193 - TNIP2 Nonsynonymous A-- > G
chr5:63802483 - RGS7BP Nonsynonymous G-- > C
chr10:11374607 - CELF2 - T-- > A
chr11:104768141 rs138698464 CASP12 Nonsynonymous G-- > A 1.335
chr21:34924550 rs142482063 SON Nonsynonymous G-- > T 0.044
chr22:19511925 rs885985 CLDN5 Stop gain G-- > A 44.631

*,UCSC Genome Browser database. MAF = Minor allele frequency.