Table 2

Sequencing summary of candidates for small mutations (patients 1–16)

Patient numberDMD bases* aligned (≥8)Bait bases aligned (≥8)Exonic bases aligned (≥8)Percentage of covered DMD bases (≥8)Percentage of covered bait bases (≥8)Percentage of covered exonic bases (≥8)Mean coverage depth (bait)Mean coverage depth (exons)
11 431 1871 068 82211 05868.3499.89100111119
21 416 2301 068 91311 05467.6299.9099.96105120
31 413 0521 068 44511 05667.4799.8699.98106121
41 409 1031 068 91611 05767.2899.9099.99104118
51 421 3691 069 04011 05867.8799.91100106118
61 423 0451 068 67211 05867.9599.88100114125
71 408 6251 068 54211 05867.2699.8710090103
81 417 7371 068 93111 05767.6999.9099.9998114
91 409 7831 068 51711 05867.3199.8610097108
101 424 6541 068 70311 05568.0299.8899.978897
111 430 8321 068 93611 05368.3299.9099.9593103
121 421 9461 068 83811 05567.9099.8999.978089
131 414 3481 068 90711 05767.5399.9099.997786
141 422 5641 069 04011 05867.9299.9110095102
151 461 3411 069 02911 04569.7899.9199.8891100
161 443 6431 068 98011 05868.9399.911008696
  • * DMD bases, bases within the DMD genomic region located at genomic position 31 047 266 to 33 139 594 (NM_004006, hg18, NCBI build 36).

  • Bait bases, bases within the bait region defined as the region covered by more than one capture probe in the DMD genomic region (1 069 947 bp).