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Official Journal of the Human Genome Organisation

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Table 1 Summary of sequencing results from 24 patients

From: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Patient ID Percentage of reads mapped on human genome Percentage of reads mapped on the target regions Median sequencing depth of target bases 10th Percentile sequencing depth of target bases Target bases with depth ≥1 Target bases with non-redundant depth ≥2, quality score ≥30 No. known SNVs No. Novel SNVs No. known indels No. novel indels No. non-recurrent novel synonymous variants No. non-recurrent novel nonsynonymous variants
MPI01 57 14.4 127 22 469,202 457,338 63 3 6 1 0 0
MPI02 71.4 41.6 214 32 471,763 464,524 64 8 7 0 2 2
MPI03 61.1 14.8 105 16 465,435 453,198 56 8 7 2 3 2
MPI04 44.6 12.2 93 12 465,221 455,388 59 6 6 0 2 0
MPI05 57 20.1 162 32 472,442 466,869 49 4 6 1 3 0
MPI06 79.9 49 445 104 475,785 471,906 69 4 6 0 2 0
MPI07 56.4 31.4 303 58 472,659 466,797 61 7 6 2 3 0
MPI08 58.3 17.3 149 29 471,184 464,040 72 6 7 1 2 1
MPI09 62 24.3 200 37 471,129 464,733 43 5 6 0 2 1
MPI10 68.8 39.9 285 82 476,112 472,553 73 7 7 0 2 1
MPI11 66.9 43.9 360 56 471,563 464,788 52 4 6 2 3 1
MPI12 43 27 210 17 459,532 447,392 43 6 6 0 3 0
MPI13 71.5 43.6 390 33 459,696 448,012 61 3 6 0 2 0
MPI14 66.7 33.1 332 24 451,283 432,832 52 5 5 0 3 0
MPI15 67.7 45.2 302 42 463,295 453,557 61 4 7 2 1 2
MPI16 72.1 39.8 261 37 462,978 452,147 62 5 6 2 2 2
MPI17 82.2 57.4 356 62 468,230 460,292 74 7 9 1 3 0
MPI18 69.5 45.5 359 29 452,294 436,990 43 6 4 0 2 1
MPI19 74.3 42.3 325 30 456,327 441,255 58 6 6 1 5 0
MPI20 53.9 18.4 145 16 462,203 449,531 58 3 5 0 1 0
MPI21 64.7 33.4 268 56 475,372 470,751 42 5 7 0 3 0
MPI22 53.4 22.3 92 8 449,473 418,304 54 2 5 0 0 1
MPI23 65.9 23.6 221 52 475,621 471,114 62 4 8 0 1 0
MPI24 71.7 35.3 276 76 475,502 471,623 57 4 7 1 1 2