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Table 2 Mean coverage with highest and lowest number of reads for target regions for each gene

From: Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients

  Gene Mean Lowest Highest
1 ABCC8 338.07 81.92 786.09
2 ABCD1 169.66 12.56 411.39
3 ACSL4 a 164.77 21.30 492.11
4 AFF2 214.46 36.76 580.05
5 ALX4 222.07 84.73 558.92
6 AP1S2 a 135.94 38.59 325.08
7 APC a 179.90 3.73 406.62
8 AR 223.99 43.85 529.40
9 ATP7A a 178.46 15.96 431.28
10 ATRX 158.16 10.57 441.01
11 AVPR2 212.24 91.24 401.30
12 BMP4 a 277.08 184.26 355.73
13 BMPR1A a 249.32 92.33 500.82
14 BMPR2 221.72 39.06 545.08
15 BRCA2 a 226.44 69.62 659.97
16 BRWD3 158.01 1.94 403.65
17 BSND 281.21 166.64 426.50
18 BTK a 248.63 71.65 522.36
19 CACNA1C 313.63 70.18 681.23
20 CASK 174.65 3.07 469.39
21 CDKN1C a 61.17 21.98 111.66
22 CFC1 0.00 0.00 0.06
23 CHD7 a 238.95 6.00 491.12
24 CHD8 a 241.14 3.17 571.36
25 CHM 138.15 0.00 424.06
26 CHRNA7 133.17 0.00 649.69
27 CLCNKA a 207.37 41.54 632.50
28 CLCNKB a 227.42 19.10 558.00
29 CNTN4 a 258.10 74.48 742.09
30 COL2A1 311.23 28.83 762.32
31 COL4A5 145.99 6.30 492.06
32 CREBBP 307.73 66.01 682.75
33 CUL4B a 148.17 35.09 399.12
34 CYP21A2 42.13 0.00 317.76
35 DCX 191.11 31.11 424.96
36 DHCR7 a 356.18 73.73 715.42
37 DMRT1 317.71 99.58 526.08
38 DYM a 199.54 35.51 538.64
39 DYRK1A 238.22 56.46 539.50
40 EDNRB a 244.22 108.94 440.60
41 EHMT1 322.86 0.00 914.42
42 EMX2 191.49 89.92 367.85
43 EXT1 255.03 122.82 531.24
44 EXT2 268.11 55.88 603.23
45 EYA1 259.46 9.39 471.54
46 F8 208.53 0.00 590.76
47 F9 194.99 29.24 362.11
48 FANCA 305.66 17.51 898.72
49 FANCB a 115.90 28.51 270.95
50 FBN1 a 275.76 42.56 611.18
51 FGD1 232.34 56.74 586.70
52 FGFR1 a 313.99 118.45 666.21
53 FLNA a 243.40 56.48 688.98
54 FMR1 156.86 48.89 329.36
55 FOXC1 93.65 76.19 114.03
56 FOXG1 96.79 77.95 125.85
57 FOXL2 93.73 75.81 114.31
58 FZD4 211.12 93.71 360.16
59 GATA3 a 324.33 155.81 637.81
60 GATA4 a 295.62 50.09 587.59
61 GDF5 155.05 113.49 212.75
62 GJB2 a 249.56 200.76 298.70
63 GLA 214.53 82.27 473.23
64 GLI2 312.00 149.69 577.16
65 GLI3 a 286.99 108.72 560.08
66 GPC3 216.44 42.47 424.44
67 GPC6 251.39 134.79 392.07
68 GPR56 a 294.55 71.00 606.66
69 GRIA3 204.51 69.61 433.75
70 HBA1 50.15 0.00 182.69
71 HBA2 10.42 0.00 40.79
72 HCCS a 177.03 62.86 347.20
73 HNF1B 321.62 59.22 722.67
74 HOXD13 278.61 105.47 524.08
75 HPRT1 151.03 46.04 318.21
76 IDS 183.74 4.69 498.62
77 IKBKG 51.43 0.00 348.87
78 IRF6 a 265.75 126.04 468.45
79 JAG1 308.99 57.19 644.27
80 KAL1 196.43 33.50 435.56
81 KCNJ1 341.18 200.92 557.14
82 KCNQ1 321.89 62.66 842.39
83 L1CAM a 238.10 33.83 531.65
84 LAMP2 161.71 16.59 374.76
85 LEMD3 162.74 55.42 325.70
86 LHX4 340.77 146.93 643.51
87 LMX1B 165.54 66.47 408.35
88 MECP2 116.40 21.60 224.22
89 MID1 a 188.60 44.28 383.24
90 MITF 303.77 97.21 559.04
91 MSX1 148.47 85.95 232.61
92 MSX2 147.01 93.77 230.81
93 MTM1 a 197.51 54.42 517.75
94 MYCN a 228.84 96.40 407.08
95 NDP a 237.17 92.91 444.75
96 NDUFV1 299.67 104.88 555.45
97 NF2 368.03 144.63 794.05
98 NHS 189.40 24.18 373.29
99 NIPBL a 172.28 15.79 382.14
100 NLGN4X a 251.27 119.13 470.66
101 NOTCH2 281.99 0.00 642.59
102 NR5A1 a 222.01 116.84 407.74
103 NRXN1 a 225.80 21.56 577.97
104 NSD1 a 261.44 86.24 500.38
105 OCA2 a 321.02 106.42 685.92
106 OCRL 178.97 13.16 440.97
107 OFD1 171.17 58.00 394.13
108 OTC 190.78 1.46 562.10
109 OTX2 311.41 198.51 476.69
110 PAFAH1B1 a 234.58 15.99 516.41
111 PAK3 181.03 47.33 405.32
112 PAX3 235.81 80.62 569.70
113 PAX6 a 242.37 25.79 599.28
114 PAX9 a 258.47 7.00 540.15
115 PGK1 252.23 95.17 614.74
116 PHEX 200.00 48.82 439.78
117 PHF6 a 165.22 63.07 315.44
118 PIGB 205.86 19.26 539.76
119 PITX2 a 283.28 122.96 548.91
120 PKD1 99.18 0.00 512.88
121 PKD2 225.02 47.45 475.99
122 PLP1 247.34 9.76 525.11
123 PREPL a 215.09 36.12 484.89
124 PRPS1 247.30 102.55 418.52
125 PTCH1 270.35 12.72 733.37
126 PTEN 150.42 22.31 371.28
127 PTPN11 267.28 7.24 610.72
128 RAI1 a 343.75 101.17 648.66
129 RB1 131.02 14.38 388.44
130 RET 271.31 71.71 635.08
131 RPS19 a 321.73 108.91 519.38
132 RS1 222.95 115.25 327.74
133 RUNX2 a 273.57 111.60 506.80
134 SALL1 a 358.75 261.01 497.61
135 SALL4 275.10 113.08 406.79
136 SATB2 a 308.41 180.72 485.31
137 SCN1A 184.22 17.84 385.17
138 SGCE 176.87 0.23 424.34
139 SH2D1A 221.35 64.88 432.85
140 SHANK3 244.90 12.74 621.93
141 SHH 161.98 64.47 259.27
142 SIX3 122.83 85.98 168.90
143 SLC12A1 a 258.77 62.97 558.39
144 SLC12A3 280.89 56.97 814.03
145 SLC16A2 265.88 60.08 534.50
146 SLC3A1 226.04 90.48 481.54
147 SLC6A8 115.64 2.00 346.38
148 SLC9A6 140.59 40.48 373.83
149 SMAD4 a 290.53 109.10 607.62
150 SOX2 195.01 156.36 240.25
151 SPINK1 a 194.39 57.54 401.97
152 SRY 65.35 0.00 189.58
153 SYN1 211.18 33.53 488.47
154 SYNGAP1 209.23 41.07 495.34
155 TBCE a 274.69 89.15 774.41
156 TBX1 a 281.13 28.78 628.34
157 TBX3 229.37 102.59 459.90
158 TBX5 a 267.57 94.82 473.34
159 TCF4 a 277.43 72.17 568.07
160 TCOF1 335.67 175.06 602.11
161 TGFBR1 211.80 1.52 479.34
162 TGFBR2 303.18 84.26 614.98
163 TGIF1 302.73 169.50 481.36
164 TIMM8A 166.52 37.46 370.74
165 TRPS1 a 267.79 112.32 411.15
166 TSC1 a 293.98 45.37 607.17
167 TSC2 a 286.10 0.00 776.60
168 TWIST1 96.89 76.02 120.38
169 UPF3B 200.15 53.63 424.96
170 USH1C 283.03 38.50 767.39
171 VHL 130.75 57.24 269.80
172 WT1 335.43 112.21 654.89
173 XIAP a 132.08 31.85 278.12
174 ZDHHC9 a 223.57 61.28 554.63
175 ZEB2 a 261.68 97.71 474.05
176 ZFPM2 211.09 6.00 393.25
177 ZIC1 228.52 127.92 369.74
178 ZIC2 128.92 29.81 320.70
179 ZIC3 202.01 120.08 320.90
180 ZIC4 291.25 127.92 616.00
  1. aTarget regions do not include non-coding first exons