Table 2.
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.