Table 3.
Whole exome sequencing variant summary
| SUDY Case Number | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | AVG |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| All Genes | |||||||||||||||
| Missense | 12599 | 11834 | 13320 | 14642 | 14825 | 11369 | 12942 | 14249 | 11210 | 11897 | 9105 | 12197 | 9358 | 9133 | 12049±1915 |
| Splice Site | 60 | 63 | 60 | 79 | 67 | 58 | 59 | 69 | 59 | 58 | 36 | 59 | 46 | 43 | 59±11 |
| Nonsense | 118 | 106 | 114 | 126 | 129 | 80 | 93 | 138 | 86 | 74 | 51 | 101 | 59 | 62 | 95±28 |
| INDELS (frame-shift) | 238 | 216 | 231 | 249 | 264 | 219 | 219 | 245 | 209 | 232 | 150 | 226 | 208 | 169 | 220±30 |
| INDELS (inframe) | 324 | 279 | 325 | 321 | 347 | 282 | 282 | 326 | 286 | 279 | 204 | 303 | 275 | 227 | 290±39 |
| Sudden Death Genes (n=117) | |||||||||||||||
| Missense | 91 | 65 | 78 | 104 | 89 | 76 | 91 | 89 | 87 | 71 | 56 | 59 | 61 | 59 | 77±15 |
| Splice Site | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | 0.28±0.47 |
| Nonsense | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 0 |
| INDELS (frame-shift) | 2 | 1 | 2 | 0 | 0 | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 0.42±0.76 |
| INDELS (inframe) | 1 | 2 | 1 | 1 | 2 | 1 | 2 | 2 | 1 | 2 | 2 | 2 | 1 | 1 | 1.5±0.52 |
| Number of Putative Mutations (absent in controls) | 0 | 0 | 0 | 0 | 0 | 0 | 0 | 1 | 1 | 2 | 1 | 1 | 1 | 1 | 0.57±0.65 |
Abbreviations: AVG, average; INDELS, insertion/deletions.