No. Position Ref Alt Gene Symbol Functional Effect MITOMAP Disease Clinical Information MITOMAP Disease Clinical Status References Details
1 73 A G . . . . No References Variant Details
2 106 G T . . . . No References Variant Details
3 248 A - . . . . No References Variant Details
4 263 A G . . . . No References Variant Details
5 296 C A . . . . No References Variant Details
6 297 - C . . . . No References Variant Details
7 302 - C . . . . No References Variant Details
8 310 T C . . . . No References Variant Details
9 311 C G . . . . No References Variant Details
10 478 A T . . . . No References Variant Details
11 487 A T . . . . No References Variant Details
12 514 CA - . . . . No References Variant Details
13 518 C - . . . . No References Variant Details
14 520 C - . . . . No References Variant Details
15 542 C A . . . . No References Variant Details
16 548 C A . . . . No References Variant Details
17 564 G T . . . . No References Variant Details
18 750 A G . . . . No References Variant Details
19 1190 C A . . . . No References Variant Details
20 1213 A T . . . . No References Variant Details
21 1225 C A . . . . No References Variant Details
22 1230 C A . . . . No References Variant Details
23 1232 A T . . . . No References Variant Details
24 1238 C A . . . . No References Variant Details
25 1250 C A . . . . No References Variant Details
26 1273 G T . . . . No References Variant Details
27 1438 A G . . . . No References Variant Details
28 1793 G A . . . . No References Variant Details
29 2706 A G . . . . No References Variant Details
30 3072 T C . . . . No References Variant Details
31 3114 T G . . . . No References Variant Details
32 3475 A T MT-ND1 missense . . No References Variant Details
33 3505 A C MT-ND1 missense . . No References Variant Details
34 3518 A G MT-ND1 missense . . No References Variant Details
35 3558 A C . . . . No References Variant Details
36 3562 T A . . . . No References Variant Details
37 3564 A T MT-ND1 missense . . No References Variant Details
38 3565 A G MT-ND1 missense . . References (1) Variant Details
39 3566 C G MT-ND1 missense . . No References Variant Details
40 3572 T G MT-ND1 missense . . No References Variant Details
41 3578 T G . . . . No References Variant Details
42 3583 A C MT-ND1 missense . . References (1) Variant Details
43 3590 T G MT-ND1 missense . . No References Variant Details
44 3595 A C MT-ND1 missense . . No References Variant Details
45 3599 T G MT-ND1 missense . . No References Variant Details
46 3605 T A MT-ND1 missense . . No References Variant Details
47 3607 G A MT-ND1 missense . . No References Variant Details
48 3611 T A MT-ND1 missense . . No References Variant Details
49 3614 T A MT-ND1 missense . . No References Variant Details
50 3620 T A MT-ND1 missense . . No References Variant Details
51 3622 C A MT-ND1 missense . . No References Variant Details
52 3625 G T MT-ND1 missense . . No References Variant Details
53 3626 C A MT-ND1 missense . . No References Variant Details
54 3631 T A MT-ND1 missense . . No References Variant Details
55 3635 G A MT-ND1 missense LHON Cfrm [LP] References (18) Variant Details
56 3638 T A MT-ND1 missense . . No References Variant Details
57 3654 C A MT-ND1 missense . . No References Variant Details
58 3656 T A MT-ND1 missense . . No References Variant Details
59 3657 C A . . . . No References Variant Details
60 3658 T A . . . . No References Variant Details
61 3662 C A . . . . No References Variant Details
62 3667 T G MT-ND1 missense Peripheral neuropathy of T2 diabetes Reported References (1) Variant Details
63 3678 C A MT-ND1 missense . . No References Variant Details
64 3685 T A MT-ND1 missense . . No References Variant Details
65 3692 T A MT-ND1 missense . . No References Variant Details
66 3696 C A MT-ND1 missense . . No References Variant Details
67 3890 G T MT-ND1 missense . . No References Variant Details
68 3970 C T . . . . No References Variant Details
69 4020 C T . . . . No References Variant Details
70 4086 C T . . . . No References Variant Details
71 4121 G A . . . . No References Variant Details
72 4127 G A MT-ND1 missense . . No References Variant Details
73 4274 T C . . . . No References Variant Details
74 4322 C T . . . . No References Variant Details
75 4323 T A . . . . No References Variant Details
76 4332 G T . . . . No References Variant Details
77 4534 T A MT-ND2 missense . . No References Variant Details
78 4539 T A MT-ND2 missense . . No References Variant Details
79 4554 A G MT-ND2 missense . . No References Variant Details
80 4556 C A . . . . No References Variant Details
81 4565 C A . . . . No References Variant Details
82 4586 T A . . . . No References Variant Details
83 4633 C A MT-ND2 missense . . No References Variant Details
84 4769 A G . . . . No References Variant Details
85 5040 A G MT-ND2 missense . . References (1) Variant Details
86 5253 C T MT-ND2 missense . . No References Variant Details
87 5443 T C MT-ND2 missense . . No References Variant Details
88 5541 C A . . . . No References Variant Details
89 5550 - CT . . . . No References Variant Details
90 5554 CAG - . . . . No References Variant Details
91 5567 T A . . . . No References Variant Details
92 5569 C A . . . . No References Variant Details
93 5570 T G . . . . No References Variant Details
94 5574 T A . . . . No References Variant Details
95 5577 C A . . . . No References Variant Details
96 5578 T G . . . . No References Variant Details
97 5585 G T . . . . No References Variant Details
98 5884 A C . . . . No References Variant Details
99 5958 T G MT-CO1 missense . . No References Variant Details
100 6167 T C . . . . No References Variant Details
101 6392 T C . . . . No References Variant Details
102 6406 T C MT-CO1 missense . . No References Variant Details
103 6579 G T MT-CO1 missense . . No References Variant Details
104 6620 T C . . . . No References Variant Details
105 6630 G A MT-CO1 missense . . No References Variant Details
106 6962 G A . . . . No References Variant Details
107 7028 C T . . . . No References Variant Details
108 7197 G T MT-CO1 missense . . No References Variant Details
109 7224 T C MT-CO1 missense . . No References Variant Details
110 7655 C A MT-CO2 missense . . No References Variant Details
111 7783 T C . . . . No References Variant Details
112 7813 C A MT-CO2 missense . . References (1) Variant Details
113 7875 T C MT-CO2 missense . . No References Variant Details
114 7887 G T MT-CO2 missense . . No References Variant Details
115 7977 G T MT-CO2 missense . . No References Variant Details
116 8149 A G . . . . No References Variant Details
117 8547 T A MT-ATP8 missense . . No References Variant Details
118 8676 C A MT-ATP6 missense . . No References Variant Details
119 8860 A G MT-ATP6 missense . . References (124) Variant Details
120 8901 A G . . . . No References Variant Details
121 9025 G A MT-ATP6 missense Motor neuropathy, Leigh-like, colon cancer Reported References (4) Variant Details
122 9053 G A MT-ATP6 missense . . References (28) Variant Details
123 9094 C G MT-ATP6 missense . . No References Variant Details
124 9112 C A MT-ATP6 missense . . No References Variant Details
125 9154 C T . . . . No References Variant Details
126 9548 G A . . . . No References Variant Details
127 9589 A C MT-CO3 missense . . No References Variant Details
128 9625 C A . . . . No References Variant Details
129 9662 A G . . . . No References Variant Details
130 9794 A G . . . . No References Variant Details
131 9802 T A MT-CO3 missense . . No References Variant Details
132 9819 G T MT-CO3 missense . . No References Variant Details
133 9836 T A MT-CO3 missense . . No References Variant Details
134 9839 C A . . . . No References Variant Details
135 9849 C A MT-CO3 missense . . No References Variant Details
136 9854 T A . . . . No References Variant Details
137 9926 A C MT-CO3 missense . . No References Variant Details
138 10188 A G MT-ND3 missense . . No References Variant Details
139 10310 G A . . . . No References Variant Details
140 10609 T C MT-ND4L missense Type 2 diabetes patients with underlying 3243G / LHON patient with 10663C Reported References (21) Variant Details
141 10791 T C MT-ND4 missense . . No References Variant Details
142 10935 A G MT-ND4 missense . . No References Variant Details
143 10936 C G MT-ND4 missense . . No References Variant Details
144 10937 C G MT-ND4 missense . . No References Variant Details
145 11042 T A MT-ND4 missense . . No References Variant Details
146 11046 T A MT-ND4 missense . . No References Variant Details
147 11048 T A MT-ND4 missense . . No References Variant Details
148 11052 T A MT-ND4 missense . . No References Variant Details
149 11054 C A MT-ND4 missense . . No References Variant Details
150 11058 T A MT-ND4 missense . . No References Variant Details
151 11060 T A MT-ND4 missense . . No References Variant Details
152 11061 C A MT-ND4 missense . . No References Variant Details
153 11065 A C . . . . No References Variant Details
154 11070 T A MT-ND4 missense . . No References Variant Details
155 11072 T A MT-ND4 missense . . No References Variant Details
156 11075 T A MT-ND4 missense . . No References Variant Details
157 11215 C T . . . . No References Variant Details
158 11271 T C MT-ND4 missense . . No References Variant Details
159 11472 T C MT-ND4 missense . . No References Variant Details
160 11531 G T MT-ND4 missense . . No References Variant Details
161 11568 T G MT-ND4 missense . . No References Variant Details
162 11719 G A . . . . No References Variant Details
163 11751 A C MT-ND4 missense . . No References Variant Details
164 11765 C A MT-ND4 missense . . No References Variant Details
165 11857 C T . . . . No References Variant Details
166 11882 C A MT-ND4 missense . . No References Variant Details
167 11883 T A MT-ND4 missense . . No References Variant Details
168 12346 C T MT-ND5 missense . . References (9) Variant Details
169 12386 C G MT-ND5 missense . . No References Variant Details
170 12395 T G MT-ND5 missense . . No References Variant Details
171 12404 T G MT-ND5 missense . . No References Variant Details
172 12406 G A MT-ND5 missense . . References (28) Variant Details
173 12462 C G . . . . No References Variant Details
174 12558 C A . . . . No References Variant Details
175 12625 A T MT-ND5 missense . . No References Variant Details
176 12632 C G MT-ND5 missense . . No References Variant Details
177 12736 G A MT-ND5 missense . . No References Variant Details
178 12882 C T . . . . No References Variant Details
179 13002 C A . . . . No References Variant Details
180 13006 T A MT-ND5 missense . . No References Variant Details
181 13023 C A . . . . No References Variant Details
182 13288 G T MT-ND5 missense . . No References Variant Details
183 13289 G T MT-ND5 missense . . No References Variant Details
184 13290 C G . . . . No References Variant Details
185 13304 A T MT-ND5 missense . . No References Variant Details
186 13311 A T . . . . No References Variant Details
187 13319 A T MT-ND5 missense . . No References Variant Details
188 13324 T C MT-ND5 missense . . No References Variant Details
189 13327 A T MT-ND5 missense . . No References Variant Details
190 13329 C G . . . . No References Variant Details
191 13345 G T MT-ND5 missense . . No References Variant Details
192 13427 A G . . . . No References Variant Details
193 13428 A G . . . . No References Variant Details
194 13432 A G MT-ND5 missense . . No References Variant Details
195 13434 AC - . . . . No References Variant Details
196 13436 - GG . . . . No References Variant Details
197 13446 A G . . . . No References Variant Details
198 13725 C A MT-ND5 missense . . No References Variant Details
199 13733 T G MT-ND5 missense . . No References Variant Details
200 13739 T G MT-ND5 missense . . No References Variant Details
201 13743 T G . . . . No References Variant Details
202 13753 - GGCG . . . . No References Variant Details
203 13759 G A MT-ND5 missense Possible LHON factor Reported References (39) Variant Details
204 13869 T A . . . . No References Variant Details
205 13874 T A MT-ND5 missense . . No References Variant Details
206 13879 T A MT-ND5 missense . . No References Variant Details
207 13886 T A MT-ND5 missense . . No References Variant Details
208 13889 G T MT-ND5 missense . . No References Variant Details
209 13894 T A MT-ND5 missense . . No References Variant Details
210 13902 C A MT-ND5 missense . . No References Variant Details
211 13928 G C MT-ND5 missense . . References (28) Variant Details
212 14073 C G . . . . No References Variant Details
213 14111 T G MT-ND5 missense . . No References Variant Details
214 14127 A C . . . . No References Variant Details
215 14296 A G . . . . No References Variant Details
216 14451 T C MT-ND6 missense . . No References Variant Details
217 14766 C T MT-CYB missense . . References (113) Variant Details
218 14801 A G MT-CYB missense . . No References Variant Details
219 15077 G C MT-CYB missense . . No References Variant Details
220 15092 G A MT-CYB missense MELAS Reported References (1) Variant Details
221 15136 C A . . . . No References Variant Details
222 15326 A G MT-CYB missense . . References (116) Variant Details
223 15500 G T MT-CYB missense . . No References Variant Details
224 15512 T A MT-CYB missense . . No References Variant Details
225 15531 T A . . . . No References Variant Details
226 15533 A C MT-CYB missense . . No References Variant Details
227 15535 C T . . . . No References Variant Details
228 15538 C A . . . . No References Variant Details
229 15539 C A MT-CYB missense . . No References Variant Details
230 15541 T A . . . . No References Variant Details
231 15548 A C MT-CYB missense . . No References Variant Details
232 15552 A C MT-CYB missense . . No References Variant Details
233 15553 G T MT-CYB missense . . No References Variant Details
234 15560 T A . . . . No References Variant Details
235 15566 T A MT-CYB missense . . No References Variant Details
236 15568 C A MT-CYB missense . . No References Variant Details
237 15571 A C . . . . No References Variant Details
238 15574 C A MT-CYB missense . . No References Variant Details
239 15598 C T . . . . No References Variant Details
240 15683 C A MT-CYB missense . . No References Variant Details
241 15702 C T MT-CYB missense . . No References Variant Details
242 15723 G T MT-CYB missense . . No References Variant Details
243 15751 A G . . . . No References Variant Details
244 16034 G T . . . . No References Variant Details
245 16068 T C . . . . No References Variant Details
246 16108 C T . . . . No References Variant Details
247 16129 G A . . . . No References Variant Details
248 16162 A G . . . . No References Variant Details
249 16172 T C . . . . No References Variant Details
250 16304 T C . . . . No References Variant Details
251 16400 C T . . . . No References Variant Details
252 16493 T A . . . . No References Variant Details
253 16509 T A . . . . No References Variant Details
254 16516 G C . . . . No References Variant Details
255 16519 T C . . . . No References Variant Details
256 16529 T A . . . . No References Variant Details
257 16544 T A . . . . No References Variant Details
No. Position Ref Alt Gene Symbol Functional Effect MITOMAP Disease Clinical Information MITOMAP Disease Clinical Status References Details