No. Position Ref Alt Gene Symbol Functional Effect MITOMAP Disease Clinical Information MITOMAP Disease Clinical Status References Details
1 43 C A . . . . No References Variant Details
2 53 G T . . . . No References Variant Details
3 67 G T . . . . No References Variant Details
4 73 A G . . . . No References Variant Details
5 76 C T . . . . No References Variant Details
6 150 C T . . . . No References Variant Details
7 205 G A . . . . No References Variant Details
8 263 A G . . . . No References Variant Details
9 308 C A . . . . No References Variant Details
10 310 - C . . . . No References Variant Details
11 370 C A . . . . No References Variant Details
12 382 C A . . . . No References Variant Details
13 411 C A . . . . No References Variant Details
14 412 G T . . . . No References Variant Details
15 456 C A . . . . No References Variant Details
16 458 C A . . . . No References Variant Details
17 460 T G . . . . No References Variant Details
18 489 T C . . . . No References Variant Details
19 513 G A . . . . No References Variant Details
20 535 C A . . . . No References Variant Details
21 536 C A . . . . No References Variant Details
22 539 T C . . . . No References Variant Details
23 545 G C . . . . No References Variant Details
24 550 A C . . . . No References Variant Details
25 557 C A . . . . No References Variant Details
26 563 AG - . . . . No References Variant Details
27 567 - AACC . . . . No References Variant Details
28 576 A G . . . . No References Variant Details
29 578 TT - . . . . No References Variant Details
30 585 A C . . . . No References Variant Details
31 588 T A . . . . No References Variant Details
32 598 A C . . . . No References Variant Details
33 607 C A . . . . No References Variant Details
34 610 T A . . . . No References Variant Details
35 617 G T . . . . No References Variant Details
36 624 C A . . . . No References Variant Details
37 726 C A . . . . No References Variant Details
38 750 A G . . . . No References Variant Details
39 786 G T . . . . No References Variant Details
40 870 C A . . . . No References Variant Details
41 911 T A . . . . No References Variant Details
42 920 G T . . . . No References Variant Details
43 925 T A . . . . No References Variant Details
44 933 G T . . . . No References Variant Details
45 1057 G T . . . . No References Variant Details
46 1083 C A . . . . No References Variant Details
47 1107 T A . . . . No References Variant Details
48 1308 T C . . . . No References Variant Details
49 1336 G T . . . . No References Variant Details
50 1388 C A . . . . No References Variant Details
51 1393 G C . . . . No References Variant Details
52 1438 A G . . . . No References Variant Details
53 1457 G T . . . . No References Variant Details
54 1473 C A . . . . No References Variant Details
55 1489 G A . . . . No References Variant Details
56 1533 C A . . . . No References Variant Details
57 1541 T C . . . . No References Variant Details
58 1562 G T . . . . No References Variant Details
59 1590 A G . . . . No References Variant Details
60 1667 - TCAACT . . . . No References Variant Details
61 1669 - TCACTTACACAAGTC . . . . No References Variant Details
62 1672 C G . . . . No References Variant Details
63 1707 C A . . . . No References Variant Details
64 1733 C A . . . . No References Variant Details
65 1933 C A . . . . No References Variant Details
66 1969 G T . . . . No References Variant Details
67 2262 C A . . . . No References Variant Details
68 2325 T A . . . . No References Variant Details
69 2343 G A . . . . No References Variant Details
70 2367 A T . . . . No References Variant Details
71 2427 C A . . . . No References Variant Details
72 2436 G A . . . . No References Variant Details
73 2477 G T . . . . No References Variant Details
74 2519 G T . . . . No References Variant Details
75 2687 C A . . . . No References Variant Details
76 2706 A G . . . . No References Variant Details
77 2727 C A . . . . No References Variant Details
78 2730 A G . . . . No References Variant Details
79 2751 G T . . . . No References Variant Details
80 2943 G A . . . . No References Variant Details
81 2950 T C . . . . No References Variant Details
82 2986 C A . . . . No References Variant Details
83 3009 C A . . . . No References Variant Details
84 3029 A G . . . . No References Variant Details
85 3132 G T . . . . No References Variant Details
86 3171 C A . . . . No References Variant Details
87 3193 T C . . . . No References Variant Details
88 3205 C A . . . . No References Variant Details
89 3206 C A . . . . No References Variant Details
90 3211 C A . . . . No References Variant Details
91 3246 C A . . . . No References Variant Details
92 3406 C T MT-ND1 missense . . No References Variant Details
93 3432 C A . . . . No References Variant Details
94 3514 C A MT-ND1 missense . . No References Variant Details
95 3571 C A MT-ND1 missense . . No References Variant Details
96 3572 T G MT-ND1 missense . . No References Variant Details
97 3577 A C MT-ND1 missense . . No References Variant Details
98 3578 T A MT-ND1 missense . . No References Variant Details
99 3583 - C . . . . No References Variant Details
100 3589 C A MT-ND1 missense . . No References Variant Details
101 3590 T C MT-ND1 missense . . References (1) Variant Details
102 3593 T - . . . . No References Variant Details
103 3599 T A MT-ND1 missense . . No References Variant Details
104 3605 T A MT-ND1 missense . . No References Variant Details
105 3608 G A MT-ND1 missense . . No References Variant Details
106 3613 - AAAA . . . . No References Variant Details
107 3616 T A MT-ND1 missense . . No References Variant Details
108 3617 - AAA . . . . No References Variant Details
109 3620 TTCTAGC - . . . . No References Variant Details
110 3631 T A MT-ND1 missense . . No References Variant Details
111 3637 C A MT-ND1 missense . . No References Variant Details
112 3638 T A MT-ND1 missense . . No References Variant Details
113 3643 G C MT-ND1 missense . . No References Variant Details
114 3644 T A MT-ND1 missense . . No References Variant Details
115 3654 C T . . . . No References Variant Details
116 3666 G A . . . . No References Variant Details
117 3668 G T MT-ND1 missense . . No References Variant Details
118 3875 T C MT-ND1 missense . . No References Variant Details
119 3882 G A . . . . No References Variant Details
120 3913 G T MT-ND1 missense . . No References Variant Details
121 4348 A G . . . . No References Variant Details
122 4434 T A . . . . No References Variant Details
123 4453 A T . . . . No References Variant Details
124 4621 G A MT-ND2 missense . . No References Variant Details
125 4645 A G MT-ND2 missense . . No References Variant Details
126 4730 C A . . . . No References Variant Details
127 4769 A G . . . . No References Variant Details
128 4811 A G . . . . No References Variant Details
129 4847 C A . . . . No References Variant Details
130 4848 G T MT-ND2 missense . . No References Variant Details
131 5030 A T MT-ND2 missense . . No References Variant Details
132 5140 G A MT-ND2 missense . . References (1) Variant Details
133 5211 C A MT-ND2 missense . . No References Variant Details
134 5324 C A MT-ND2 missense . . No References Variant Details
135 5346 - TCCTCCTGTTTAACTGAAACTTTGTGTCCTTTGACAAACATCTCCCA . . . . No References Variant Details
136 5349 - ACCCT . . . . No References Variant Details
137 5351 - CC . . . . No References Variant Details
138 5391 T C MT-ND2 missense . . No References Variant Details
139 5395 A T MT-ND2 missense . . No References Variant Details
140 5434 C A MT-ND2 missense . . No References Variant Details
141 5586 C A . . . . No References Variant Details
142 5592 A T . . . . No References Variant Details
143 5596 C T . . . . No References Variant Details
144 5602 C A . . . . No References Variant Details
145 5610 G T . . . . No References Variant Details
146 5622 C A . . . . No References Variant Details
147 5629 C A . . . . No References Variant Details
148 5896 C A . . . . No References Variant Details
149 5910 G A MT-CO1 missense . . References (1) Variant Details
150 5961 C A MT-CO1 missense . . No References Variant Details
151 6069 G T MT-CO1 missense . . No References Variant Details
152 6253 T C MT-CO1 missense Prostate Cancer / enriched in POAG cohort Reported References (13) Variant Details
153 6263 C A . . . . No References Variant Details
154 6292 C A MT-CO1 missense . . No References Variant Details
155 6295 C A MT-CO1 missense . . No References Variant Details
156 6314 C A . . . . No References Variant Details
157 6333 G A MT-CO1 missense . . No References Variant Details
158 6550 A C MT-CO1 missense . . No References Variant Details
159 6554 C A . . . . No References Variant Details
160 6570 G A MT-CO1 missense . . No References Variant Details
161 6578 A G . . . . No References Variant Details
162 6597 C A MT-CO1 missense MELAS-like syndrome Reported References (1) Variant Details
163 6601 A G MT-CO1 missense . . No References Variant Details
164 6839 C A MT-CO1 missense . . No References Variant Details
165 6885 C A MT-CO1 missense . . No References Variant Details
166 6900 A G MT-CO1 missense . . No References Variant Details
167 6966 G T MT-CO1 missense . . No References Variant Details
168 7028 C T . . . . No References Variant Details
169 7384 G T MT-CO1 missense . . No References Variant Details
170 7427 C A . . . . No References Variant Details
171 7492 C A . . . . No References Variant Details
172 7628 C A MT-CO2 missense . . References (1) Variant Details
173 7763 G T . . . . No References Variant Details
174 7792 C A . . . . No References Variant Details
175 8060 G A MT-CO2 missense . . References (1) Variant Details
176 8109 T C MT-CO2 missense . . No References Variant Details
177 8155 - AATTGCATCTGTTTTTAA . . . . No References Variant Details
178 8389 A G . . . . No References Variant Details
179 8436 C A MT-ATP8 missense . . No References Variant Details
180 8584 G A MT-ATP6 missense . . References (43) Variant Details
181 8625 C A . . . . No References Variant Details
182 8635 C G MT-ATP6 missense . . No References Variant Details
183 8648 G A MT-ATP6 missense . . No References Variant Details
184 8652 A C . . . . No References Variant Details
185 8701 A G MT-ATP6 missense . . References (102) Variant Details
186 8719 G T MT-ATP6 missense . . No References Variant Details
187 8727 C T . . . . No References Variant Details
188 8824 A G MT-ATP6 missense . . No References Variant Details
189 8860 A G MT-ATP6 missense . . References (124) Variant Details
190 8879 G T MT-ATP6 missense . . No References Variant Details
191 9252 T A . . . . No References Variant Details
192 9258 C T . . . . No References Variant Details
193 9431 C A . . . . No References Variant Details
194 9443 T A . . . . No References Variant Details
195 9444 C A . . . . No References Variant Details
196 9465 A G MT-CO3 missense . . No References Variant Details
197 9540 T C . . . . No References Variant Details
198 9892 C A MT-CO3 missense . . No References Variant Details
199 9947 G T . . . . No References Variant Details
200 10095 C A MT-ND3 missense . . No References Variant Details
201 10143 G T MT-ND3 missense . . No References Variant Details
202 10364 G T . . . . No References Variant Details
203 10398 A G MT-ND3 missense PD protective factor / longevity / altered cell pH / metabolic syndrome / breast cancer risk / Leigh Syndrome risk / ADHD / cognitive decline / SCA2 age of onset / Fuchs endothelial corneal dystrophy Reported; lineage L & M marker, also hg IJK References (221) Variant Details
204 10400 C T . . . . No References Variant Details
205 10406 G T . . . . No References Variant Details
206 10437 G T . . . . No References Variant Details
207 10613 C A . . . . No References Variant Details
208 10648 C A MT-ND4L missense . . No References Variant Details
209 10670 C A . . . . No References Variant Details
210 10822 C T . . . . No References Variant Details
211 10842 C A MT-ND4 missense . . No References Variant Details
212 10872 C A MT-ND4 missense . . No References Variant Details
213 10873 T C . . . . No References Variant Details
214 10907 T C MT-ND4 missense . . References (9) Variant Details
215 10938 C A MT-ND4 missense . . No References Variant Details
216 11020 A G . . . . No References Variant Details
217 11040 T C MT-ND4 missense . . No References Variant Details
218 11422 C T . . . . No References Variant Details
219 11514 C A MT-ND4 missense . . No References Variant Details
220 11650 A T . . . . No References Variant Details
221 11690 G T MT-ND4 missense . . No References Variant Details
222 11719 G A . . . . No References Variant Details
223 11772 A T MT-ND4 missense . . No References Variant Details
224 11782 C A MT-ND4 missense . . No References Variant Details
225 11944 T C . . . . No References Variant Details
226 11962 A G . . . . No References Variant Details
227 12008 G T MT-ND4 missense . . No References Variant Details
228 12009 G T MT-ND4 missense . . No References Variant Details
229 12033 - CAACAACAAAAG . . . . No References Variant Details
230 12036 - GAGC . . . . No References Variant Details
231 12039 - AAGTCCAAACACTACATACTAACTACAGTCACATTATCTGGGC . . . . No References Variant Details
232 12087 C A MT-ND4 missense . . No References Variant Details
233 12100 A G . . . . No References Variant Details
234 12124 C A . . . . No References Variant Details
235 12206 C T . . . . No References Variant Details
236 12215 T C . . . . No References Variant Details
237 12237 C A . . . . No References Variant Details
238 12342 C A . . . . No References Variant Details
239 12417 - A . . . . No References Variant Details
240 12442 G T MT-ND5 missense . . No References Variant Details
241 12569 T A MT-ND5 missense . . No References Variant Details
242 12571 A C MT-ND5 missense . . No References Variant Details
243 12572 G T MT-ND5 missense . . No References Variant Details
244 12607 C A MT-ND5 missense . . No References Variant Details
245 12608 C A MT-ND5 missense . . No References Variant Details
246 12616 T A MT-ND5 missense . . No References Variant Details
247 12705 C T . . . . No References Variant Details
248 13037 C A MT-ND5 missense . . No References Variant Details
249 13072 C A MT-ND5 missense . . No References Variant Details
250 13078 C A MT-ND5 missense . . No References Variant Details
251 13089 TA - . . . . No References Variant Details
252 13125 C A MT-ND5 missense . . No References Variant Details
253 13647 C A MT-ND5 missense . . No References Variant Details
254 13785 C A . . . . No References Variant Details
255 13879 T A MT-ND5 missense . . No References Variant Details
256 13881 C A . . . . No References Variant Details
257 13886 T A MT-ND5 missense . . No References Variant Details
258 13902 C A MT-ND5 missense . . No References Variant Details
259 13924 C A MT-ND5 missense . . No References Variant Details
260 13929 C T . . . . No References Variant Details
261 14043 C A MT-ND5 missense . . No References Variant Details
262 14058 C A . . . . No References Variant Details
263 14150 C A . . . . No References Variant Details
264 14157 C A MT-ND6 missense . . No References Variant Details
265 14248 C A . . . . No References Variant Details
266 14380 C A MT-ND6 missense . . No References Variant Details
267 14413 C A MT-ND6 missense . . No References Variant Details
268 14434 C A MT-ND6 missense . . No References Variant Details
269 14528 C A MT-ND6 missense . . No References Variant Details
270 14563 C A . . . . No References Variant Details
271 14621 C A MT-ND6 missense . . No References Variant Details
272 14644 C A . . . . No References Variant Details
273 14766 C T MT-CYB missense . . References (113) Variant Details
274 14783 T C . . . . No References Variant Details
275 15026 C A MT-CYB missense . . No References Variant Details
276 15043 G A . . . . No References Variant Details
277 15063 C A . . . . No References Variant Details
278 15068 C T MT-CYB missense . . No References Variant Details
279 15079 A G . . . . No References Variant Details
280 15272 A G MT-CYB missense . . No References Variant Details
281 15301 G A . . . . No References Variant Details
282 15305 T C MT-CYB missense . . References (1) Variant Details
283 15326 A G MT-CYB missense . . References (116) Variant Details
284 15346 G A . . . . No References Variant Details
285 15355 G T . . . . No References Variant Details
286 15386 C A MT-CYB missense . . No References Variant Details
287 15433 C A . . . . No References Variant Details
288 15542 C A MT-CYB missense . . No References Variant Details
289 15665 C A MT-CYB missense . . No References Variant Details
290 15698 C T MT-CYB missense . . No References Variant Details
291 15699 G T MT-CYB missense . . No References Variant Details
292 15700 C T . . . . No References Variant Details
293 15702 C A MT-CYB missense . . No References Variant Details
294 15882 G A . . . . No References Variant Details
295 15986 G T . . . . No References Variant Details
296 16011 A T . . . . No References Variant Details
297 16187 C T . . . . No References Variant Details
298 16223 C T . . . . No References Variant Details
299 16250 C A . . . . No References Variant Details
300 16381 T C . . . . No References Variant Details
301 16390 G A . . . . No References Variant Details
302 16404 C A . . . . No References Variant Details
303 16427 C A . . . . No References Variant Details
304 16429 CAC - . . . . No References Variant Details
No. Position Ref Alt Gene Symbol Functional Effect MITOMAP Disease Clinical Information MITOMAP Disease Clinical Status References Details