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. 2017 Jan 13;8(2):88–96. doi: 10.1111/1759-7714.12411

Table 2.

Details of predicted non‐synonymous single nucleotide variations

Chromosome Start End Reference Alt Gene symbol Gene function impaction SIFT
12 112 673 325 112 673 325 G A HECTD4 Nonsynonymous SNV 0
13 49 075 918 49 075 918 C A RCBTB2 Stopgain SNV 0
3 126 071 687 126 071 687 C A KLF15 Nonsynonymous SNV 0.01
12 2 721 085 2 721 085 G T CACNA1C Nonsynonymous SNV 0.05
14 92 482 047 92 482 047 T A TRIP11 Nonsynonymous SNV 0.11
14 105 405 385 105 405 385 T A AHNAK2 Nonsynonymous SNV 0.17
22 21 330 800 21 330 800 G T AIFM3 Nonsynonymous SNV 0.27
5 94 764 399 94 764 399 C T FAM81B Nonsynonymous SNV 0.32
9 136 421 040 136 421 040 C A ADAMTSL2 Nonsynonymous SNV 0.34
16 309 499 309 499 G T ITFG3 Nonsynonymous SNV 0.39
2 189 904 214 189 904 214 T G COL5A2 Nonsynonymous SNV 0.69
6 47 847 014 47 847 014 G C PTCHD4 Stopgain SNV 1

SNV, single nucleotide variant.