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. 2016 Jul 11;6:29732. doi: 10.1038/srep29732

Table 1. Molecular diagnosis of 154 new NICCD patients.

No. Patients Gender SLC25A13 mutations No. Patients Gender SLC25A13mutations
01 C0171 Male c.851_854del4/ c.851_854del4 78 C0289 Male IVS16ins3kb/ IVS16ins3kb
02 C0172 Male c.851_854del4/c.1064G > A 79 C0290 Male c.851_854del4/ c.851_854del4
03 C0173 Female c.550C > T(p.R184X)/IVS4ins6kb 80 C0291 Female c.550C > T(p.R184X)/ c.1638_1660dup
04 C0174 Female c.851_854del4/ c.851_854del4 81 C0293 Male IVS6 + 5G > A/ IVS16ins3kb
05 C0175 Female c.495delA/IVS16ins3kb 82 C0294 Female c.851_854del4/ c.851_854del4
06 C0176 Male c.851_854del4/ c.851_854del4 83 C0297 Male c.1092_1095delT/ c.851_854del4
07 C0177 Male c.851_854del4/ c.851_854del4 84 C0298 Male c.851_854del4/IVS16ins3kb
08 C0178 Female c.851_854del4/ c.851_854del4 85 C0298S Female c.851_854del4/IVS16ins3kb
09 C0180 Female c.1638_1660dup/IVS16ins3kb 86 C0299 Female c.851_854del4/IVS16ins3kb
10 C0181 Male c.2T > C/? 87 C0301 Male c.851_854del4/ c.1638_1660dup
11 C0182 Female c.851_854del4/ c.851_854del4 88 C0303 Male c.851_854del4/c.1048G > A(p.D350N)
12 C0183 Female c.851_854del4/IVS16ins3kb 89 C0306 Female c.851_854del4/ IVS6 + 5G > A
13 C0184 Female c.851_854del4/IVS4ins6kb 90 C0307 Female c.851_854del4/ c.851_854del4
14 C0185 Male c.851_854del4/ c.851_854del4 91 C0310 Male c.851_854del4/ c.851_854del4
15 C0189 Male c.851_854del4/ IVS6 + 5G > A 92 C0314 Female c.851_854del4/ c.851_854del4
16 C0190 Female c.851_854del4/ c.851_854del4 93 C0315 Male c.851_854del4/ c.851_854del4
17 C0191 Female c.851_854del4/ c.851_854del4 94 C0316 Female c.1638_1660dup/IVS16ins3kb
18 C0192 Female c.851_854del4/IVS16ins3kb 95 C0319 Male c.851_854del4/ c.851_854del4
19 C0197 Female c.851_854del4/IVS6 + 5G > A 96 C0320 Male c.851_854del4/ c.851_854del4
20 C0201 Male c.851_854del4/ c.851_854del4 97 C0321 Male c.1638_1660dup/IVS6 + 5G > A
21 C0205 Male c.851_854del4/ c.851_854del4 98 C0323 Male c.851_854del4/ c.851_854del4
22 C0206 Male c.851_854del4/ c.851_854del4 99 C0324 Male c.851_854del4/ c.851_854del4
23 C0207 Male c.851_854del4/ IVS16ins3kb 100 C0325 Female c.851_854del4/ c.851_854del4
24 C0208 Male c.851_854del4/c.775C > T(p.Q259X) 101 C0327 Male c.851_854del4/ c.851_854del4
25 C0209 Male c.851_854del4/ c.1638_1660dup 102 C0335 Female c.851_854del4/ c.1638_1660dup
26 C0211 Female c.851_854del4/ c.851_854del4 103 C0336 Male c.851_854del4/c.955C > T(p.R319X)
27 C0212 Female c.851_854del4/ c.851_854del4 104 C0337 Male c.851_854del4/IVS16ins3kb
28 C0215 Female c.851_854del4/ c.1638_1660dup 105 C0338 Female c.851_854del4/IVS16ins3kb
29 C0216 Male c.851_854del4/ c.851_854del4 106 C0339 Female c.851_854del4/IVS16ins3kb
30 C0217 Male c.851_854del4/ c.1638_1660dup 107 C0340 Female c.851_854del4/ c.851_854del4
31 C0219 Female c.851_854del4/ c.851_854del4 108 C0343 Male c.851_854del4/ c.851_854del4
32 C0220 Female c.851_854del4/IVS4ins6kb 109 C0344 Female c.851_854del4/ c.851_854del4
33 C0221 Male IVS11 + 1G > A/c.845_c.848 + 1delG 110 C0345 Female c.851_854del4/ c.851_854del4
34 C0222 Female c.851_854del4/IVS6 + 5G > A 111 C0347 Female c.1048G > A(p.D350N)/IVS16ins3kb
35 C0224 Female c.851_854del4/ c.851_854del4 112 C0348 Male c.851_854del4/ c.851_854del4
36 C0226 Male c.851_854del4/ c.1078C > T(p.R360X) 113 C0349 Male c.851_854del4/IVS16ins3kb
37 C0227 Male c.851_854del4/ IVS16ins3kb 114 C0350 Female c.851_854del4/IVS6 + 5G > A
38 C0229 Male c.851_854del4/ c.1638_1660dup 115 C0351 Male c.851_854del4/ c.851_854del4
39 C0234 Female c.851_854del4/ c.851_854del4 116 C0352 Male c.851_854del4/ c.851_854del4
40 C0235 Female c.851_854del4/ c.1638_1660dup 117 C0354 Male c.1638_1660dup/IVS6 + 5G > A
41 C0236 Male c.851_854del4/ c.103A > G(p.M35V) 118 C0355 Male IVS11 + 1G > A/ c.1638_1660dup
42 C0237 Male c.851_854del4/c.1078C > T(p.R360X) 119 C0356 Female IVS6 + 5G > A/c.1399C > T(p.R467X)
43 C0238 Male c.851_854del4/ c.851_854del4 120 C0357 Female c.851_854del4/ c.851_854del4
44 C0239 Female c.851_854del4/ c.851_854del4 121 C0358 Female c.851_854del4/ IVS6 + 5G > A
45 C0240 Male IVS6 + 5G > A/ IVS11 + 1G > A 122 C0359 Male c.851_854del4/IVS16ins3kb
46 C0241 Male c.1063C > G(p.R355G)/ IVS16ins3kb 123 C0360 Male IVS16ins3kb/[c.329−154_c.468 + 2352del2646; c.468 + 2392_c.468 + 2393ins23]
47 C0242 Female c.851_854del4/ c.851_854del4 124 C0361 Male c.851_854del4/ c.851_854del4
48 C0243 Female c.1638_1660dup/c.1638_1660dup 125 C0363 Male c.1638_1660dup/IVS6 + 5G > A
49 C0244 Male IVS16ins3kb/IVS16ins3kb 126 C0364 Male c.933 + 1_c.933 + 2insCAGG/c.1706_1707delTA
50 C0245 Female c.851_854del4/ c.851_854del4 127 C0366 Male IVS16ins3kb/ IVS16ins3kb
51 C0246 Male c.851_854del4/ c.851_854del4 128 C0367 Male c.851_854del4/c.1048G > A(p.D350N)
52 C0247 Male c.851_854del4/ c.851_854del4 129 C0368 Female c.851_854del4/c.1638_1660dup
53 C0248 Female c.851_854del4/IVS16ins3kb 130 C0369 Male c.851_854del4/c.550C > T(p.R184X)
54 C0249 Female c.1638_1660dup/c.1381G > T(p.E461X) 131 C0371 Female c.851_854del4/c.1399C > T
55 C0250 Male c.851_854del4/ c.851_854del4 132 C0373 Male c.851_854del4/IVS16ins3kb
56 C0251 Female IVS11 + 1G > A/ c.1638_1660dup 133 C0373S Female c.851_854del4/IVS16ins3kb
57 C0253 Female c.1638_1660dup/IVS16ins3kb 134 C0375 Female IVS16ins3kb/ c.851_854del4
58 C0253S Female c.1638_1660dup/IVS16ins3kb 135 C0376 Male c.851_854del4/ c.851_854del4
59 C0257 Male IVS7−1G > C/c.1364G > T(p.R455L) 136 C0377 Male c.851_854del4/ c.851_854del4
60 C0258 Female c.1638_1660dup/c.1638_1660dup 137 C0378 Male c.851_854del4/ c.851_854del4
61 C0261 Male c.851_854del4/ c.851_854del4 138 C0380 Male c.851_854del4/ c.851_854del4
62 C0262 Male c.851_854del4/ c.851_854del4 139 C0382 Male c.851_854del4/IVS4ins6kb
63 C0264 Female c.851_854del4/ c.1399C > T (p. R467X) 140 C0383 Female c.1638_1660dup/c.1638_1660dup
64 C0266 Male c.851_854del4/IVS6 + 5G > A 141 C0384 Male c.851_854del4/ IVS16ins3kb
65 C0267 Female c.851_854del4/IVS6 + 5G > A 142 C0385 Male c.851_854del4/ IVS16ins3kb
66 C0268 Male c.851_854del4/ c.1399C > T (p. R467X) 143 C0387 Male IVS6 + 5G > A/IVS4ins6kb
67 C0270 Male c.851_854del4/ c.851_854del4 144 C0388 Female [c.851_854del4; c.1452 + 1G > A]/?
68 C0272 Female c.851_854del4/ c.851_854del4 145 C0392 Female c.851_854del4/ c.851_854del4
69 C0273 Male c.851_854del4/ c.851_854del4 146 C0394 Male c.1638_1660dup/IVS16ins3kb
70 C0276 Male c.851_854del4/ c.851_854del4 147 C0395 Male c.851_854del4/ c.1638_1660dup
71 C0277 Male c.851_854del4/ c.851_854del4 148 C0396 Male IVS6 + 5G > A/IVS6 + 5G > A
72 C0278 Female c.851_854del4/ c.851_854del4 149 C0397 Female c.851_854del4/ IVS6 + 5G > A
73 C0280 Female c.851_854del4/ c.851_854del4 150 C0398 Female c.851_854del4/ c.851_854del4
74 C0283 Female c.851_854del4/ c.851_854del4 151 C0400 Male c.851_854del4/ IVS6 + 5G > A
75 C0284 Male IVS16ins3kb/IVS6 + 5G > A 152 C0401 Female c.493C > T/ IVS16ins3kb
76 C0286 Male IVS16ins3kb/ IVS16ins3kb 153 C0403 Female c.851_854del4/ c.851_854del4
77 C0288 Male c.851_854del4/IVS6 + 5G > A 154 C0404 Male IVS4ins6kb/ c.851_854del4