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. Author manuscript; available in PMC: 2016 Jun 14.
Published in final edited form as: Pediatr Cardiol. 2014 Dec 13;36(4):768–778. doi: 10.1007/s00246-014-1082-4

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.