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 76 C T . . . . No References Variant Details
3 150 C T . . . . No References Variant Details
4 154 T A . . . . No References Variant Details
5 199 T C . . . . No References Variant Details
6 248 A G . . . . No References Variant Details
7 302 - C . . . . No References Variant Details
8 310 - C . . . . No References Variant Details
9 332 C T . . . . No References Variant Details
10 456 C T . . . . No References Variant Details
11 489 T C . . . . No References Variant Details
12 652 G C . . . . No References Variant Details
13 707 C A . . . . No References Variant Details
14 722 C A . . . . No References Variant Details
15 750 A G . . . . No References Variant Details
16 752 C A . . . . No References Variant Details
17 763 C A . . . . No References Variant Details
18 901 G T . . . . No References Variant Details
19 1218 A G . . . . No References Variant Details
20 1438 A G . . . . No References Variant Details
21 1545 T G . . . . No References Variant Details
22 1628 C T . . . . No References Variant Details
23 1662 C A . . . . No References Variant Details
24 1766 - AAAACTATAAAAGGCCTGGAATATAACCTAGGAAATACCATTCTGTACATA . . . . No References Variant Details
25 1776 G T . . . . No References Variant Details
26 1876 T A . . . . No References Variant Details
27 2218 C G . . . . No References Variant Details
28 2490 C A . . . . No References Variant Details
29 2706 A G . . . . No References Variant Details
30 2825 G T . . . . No References Variant Details
31 2847 C T . . . . No References Variant Details
32 3005 A G . . . . No References Variant Details
33 3010 G T . . . . No References Variant Details
34 3205 C A . . . . No References Variant Details
35 3466 A G MT-ND1 missense . . No References Variant Details
36 3493 C T MT-ND1 missense . . No References Variant Details
37 3530 CGACCTTAG - . . . . No References Variant Details
38 3542 TCA - . . . . No References Variant Details
39 3547 A T MT-ND1 missense . . No References Variant Details
40 3550 G - . . . . No References Variant Details
41 3572 T G MT-ND1 missense . . No References Variant Details
42 3577 A C MT-ND1 missense . . No References Variant Details
43 3578 T C MT-ND1 missense . . References (1) Variant Details
44 3583 A C MT-ND1 missense . . References (1) Variant Details
45 3584 A C MT-ND1 missense . . No References Variant Details
46 3590 T A MT-ND1 missense . . No References Variant Details
47 3593 T G MT-ND1 missense . . No References Variant Details
48 3595 AA - . . . . No References Variant Details
49 3597 - CA . . . . No References Variant Details
50 3599 T A MT-ND1 missense . . No References Variant Details
51 3605 T C MT-ND1 missense . . No References Variant Details
52 3611 T A MT-ND1 missense . . No References Variant Details
53 3614 T A MT-ND1 missense . . No References Variant Details
54 3618 T A MT-ND1 missense . . No References Variant Details
55 3622 C A MT-ND1 missense . . No References Variant Details
56 3623 T A MT-ND1 missense . . No References Variant Details
57 3625 G A MT-ND1 missense . . No References Variant Details
58 3629 C A MT-ND1 missense . . No References Variant Details
59 3954 C A . . . . No References Variant Details
60 4048 G A MT-ND1 missense . . References (30) Variant Details
61 4071 C T . . . . No References Variant Details
62 4164 A G . . . . No References Variant Details
63 4314 T A . . . . No References Variant Details
64 4439 C A . . . . No References Variant Details
65 4769 A G . . . . No References Variant Details
66 4774 T C MT-ND2 missense . . No References Variant Details
67 5195 C A . . . . No References Variant Details
68 5294 C A . . . . No References Variant Details
69 5338 T C MT-ND2 missense . . No References Variant Details
70 5351 A G . . . . No References Variant Details
71 5460 G A MT-ND2 missense AD / PD / LHON Conflicting reports References (63) Variant Details
72 5465 T G . . . . No References Variant Details
73 5466 A C MT-ND2 missense . . No References Variant Details
74 5469 A C MT-ND2 missense . . No References Variant Details
75 5473 - CCCCCCAGACACAAAATCTCTCTCTCTCTAACACACAC . . . . No References Variant Details
76 5879 C A . . . . No References Variant Details
77 6037 G C MT-CO1 missense . . No References Variant Details
78 6151 T G MT-CO1 missense . . No References Variant Details
79 6165 G T MT-CO1 missense . . No References Variant Details
80 6169 C T MT-CO1 missense . . No References Variant Details
81 6180 G T MT-CO1 missense . . No References Variant Details
82 6190 G A MT-CO1 missense . . No References Variant Details
83 6192 A T MT-CO1 missense . . No References Variant Details
84 6354 C A MT-CO1 missense . . No References Variant Details
85 6455 C T . . . . No References Variant Details
86 6465 G A MT-CO1 missense . . References (1) Variant Details
87 6500 - CTGCCATCATCTCTCCAA . . . . No References Variant Details
88 6504 G C MT-CO1 missense . . No References Variant Details
89 6505 T C MT-CO1 missense . . No References Variant Details
90 6548 C T . . . . No References Variant Details
91 6558 T C MT-CO1 missense . . No References Variant Details
92 6665 C A MT-CO1 missense . . No References Variant Details
93 6680 T C . . . . No References Variant Details
94 6686 C A . . . . No References Variant Details
95 6802 A G MT-CO1 missense . . No References Variant Details
96 6807 C A . . . . No References Variant Details
97 6818 C A MT-CO1 missense . . No References Variant Details
98 6821 C A . . . . No References Variant Details
99 6824 C A . . . . No References Variant Details
100 6833 A - . . . . No References Variant Details
101 6840 G T MT-CO1 missense . . No References Variant Details
102 6846 C A MT-CO1 missense . . No References Variant Details
103 6847 C A MT-CO1 missense . . No References Variant Details
104 6869 C A . . . . No References Variant Details
105 6871 G T MT-CO1 missense . . No References Variant Details
106 6878 C G . . . . No References Variant Details
107 7028 C T . . . . No References Variant Details
108 7044 C A MT-CO1 missense . . No References Variant Details
109 7079 C A . . . . No References Variant Details
110 7115 C A . . . . No References Variant Details
111 7329 T C MT-CO1 missense . . References (1) Variant Details
112 7332 G T MT-CO1 missense . . No References Variant Details
113 7601 C A MT-CO2 missense . . No References Variant Details
114 7628 C A MT-CO2 missense . . References (1) Variant Details
115 7684 T C . . . . No References Variant Details
116 7789 G T . . . . No References Variant Details
117 7853 G A MT-CO2 missense . . References (27) Variant Details
118 7910 G T . . . . No References Variant Details
119 8110 T C . . . . No References Variant Details
120 8138 A G MT-CO2 missense . . No References Variant Details
121 8457 C A MT-ATP8 missense . . No References Variant Details
122 8701 A G MT-ATP6 missense . . References (102) Variant Details
123 8860 A G MT-ATP6 missense . . References (124) Variant Details
124 8884 A T . . . . No References Variant Details
125 8886 G C MT-ATP6 missense . . No References Variant Details
126 8974 C A MT-ATP6 missense . . No References Variant Details
127 9009 C A . . . . No References Variant Details
128 9044 - CC . . . . No References Variant Details
129 9046 AT - . . . . No References Variant Details
130 9072 A C . . . . No References Variant Details
131 9081 C A MT-ATP6 missense . . No References Variant Details
132 9099 C A MT-ATP6 missense . . No References Variant Details
133 9173 T A MT-ATP6 missense . . No References Variant Details
134 9192 G A . . . . No References Variant Details
135 9207 - CATCCCCTTTCAGCAGCCCCCACCTCCCTTCTCCCCTACT . . . . No References Variant Details
136 9210 A T MT-CO3 missense . . No References Variant Details
137 9211 C T MT-CO3 missense . . No References Variant Details
138 9226 C T MT-CO3 missense . . No References Variant Details
139 9489 G A MT-CO3 missense . . No References Variant Details
140 9540 T C . . . . No References Variant Details
141 9574 C A MT-CO3 missense . . No References Variant Details
142 9595 C A MT-CO3 missense . . No References Variant Details
143 9650 C - . . . . No References Variant Details
144 9651 C G MT-CO3 missense . . No References Variant Details
145 9653 - G . . . . No References Variant Details
146 9655 G C MT-CO3 missense . . No References Variant Details
147 9659 A - . . . . No References Variant Details
148 9664 A G MT-CO3 missense . . References (2) Variant Details
149 9668 C A MT-CO3 missense . . No References Variant Details
150 9816 C A MT-CO3 missense . . No References Variant Details
151 9824 T C . . . . No References Variant Details
152 9868 G T MT-CO3 missense . . No References Variant Details
153 10182 G T MT-ND3 missense . . No References Variant Details
154 10185 C T MT-ND3 missense . . No References Variant Details
155 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
156 10400 C T . . . . No References Variant Details
157 10510 T A MT-ND4L missense . . No References Variant Details
158 10606 T C MT-ND4L missense . . No References Variant Details
159 10646 G A . . . . No References Variant Details
160 10758 C T . . . . No References Variant Details
161 10873 T C . . . . No References Variant Details
162 10947 C - . . . . No References Variant Details
163 10951 C T . . . . No References Variant Details
164 10977 T G MT-ND4 missense . . No References Variant Details
165 10983 T A MT-ND4 missense . . No References Variant Details
166 10989 T A MT-ND4 missense . . No References Variant Details
167 11009 T A MT-ND4 missense . . No References Variant Details
168 11177 C A MT-ND4 missense . . No References Variant Details
169 11250 - GACCCCATAGATCCTA . . . . No References Variant Details
170 11253 - CC . . . . No References Variant Details
171 11255 - TC . . . . No References Variant Details
172 11257 C G . . . . No References Variant Details
173 11372 G A MT-ND4 missense . . No References Variant Details
174 11719 G A . . . . No References Variant Details
175 11897 T A MT-ND4 missense . . No References Variant Details
176 11907 T C MT-ND4 missense . . No References Variant Details
177 11911 C A . . . . No References Variant Details
178 12104 C A MT-ND4 missense . . No References Variant Details
179 12195 C A . . . . No References Variant Details
180 12218 C A . . . . No References Variant Details
181 12231 C A . . . . No References Variant Details
182 12348 C A MT-ND5 missense . . No References Variant Details
183 12405 C T . . . . No References Variant Details
184 12705 C T . . . . No References Variant Details
185 12737 C A MT-ND5 missense . . No References Variant Details
186 12808 T C MT-ND5 missense . . No References Variant Details
187 12811 T C MT-ND5 missense Possible LHON factor Reported [B] References (36) Variant Details
188 12813 C T . . . . No References Variant Details
189 12826 G A MT-ND5 missense . . No References Variant Details
190 12856 T C MT-ND5 missense . . No References Variant Details
191 12870 C A . . . . No References Variant Details
192 12990 A C . . . . No References Variant Details
193 13005 A T MT-ND5 missense . . No References Variant Details
194 13023 C G . . . . No References Variant Details
195 13029 C A . . . . No References Variant Details
196 13049 A C MT-ND5 missense . . No References Variant Details
197 13050 A T MT-ND5 missense . . No References Variant Details
198 13060 C A MT-ND5 missense . . No References Variant Details
199 13142 - CCTGCCTATTCCTTGCTATACTTAAAGTTAATC . . . . No References Variant Details
200 13160 C A MT-ND5 missense . . No References Variant Details
201 13170 A C . . . . No References Variant Details
202 13180 G A MT-ND5 missense . . No References Variant Details
203 13208 G T MT-ND5 missense . . No References Variant Details
204 13441 A G MT-ND5 missense . . No References Variant Details
205 13446 A C . . . . No References Variant Details
206 13447 A T MT-ND5 missense . . No References Variant Details
207 13519 A C MT-ND5 missense . . No References Variant Details
208 13522 A C MT-ND5 missense . . No References Variant Details
209 13555 T A . . . . No References Variant Details
210 13689 A G . . . . No References Variant Details
211 13691 A C MT-ND5 missense . . No References Variant Details
212 13992 C A . . . . No References Variant Details
213 14062 A G MT-ND5 missense . . References (4) Variant Details
214 14196 A C MT-ND6 missense . . No References Variant Details
215 14418 C G MT-ND6 missense . . No References Variant Details
216 14523 T C MT-ND6 missense . . No References Variant Details
217 14631 C A MT-ND6 missense . . No References Variant Details
218 14766 C T MT-CYB missense . . References (113) Variant Details
219 14783 T C . . . . No References Variant Details
220 14794 C G MT-CYB missense . . No References Variant Details
221 14796 C A . . . . No References Variant Details
222 14799 T C MT-CYB missense . . No References Variant Details
223 14889 G A MT-CYB missense . . No References Variant Details
224 14910 A T MT-CYB missense . . No References Variant Details
225 14957 C A . . . . No References Variant Details
226 15043 G A . . . . No References Variant Details
227 15162 C T MT-CYB missense . . No References Variant Details
228 15301 G A . . . . No References Variant Details
229 15319 C A . . . . No References Variant Details
230 15326 A G MT-CYB missense . . References (116) Variant Details
231 15351 A G MT-CYB missense . . No References Variant Details
232 15383 T A MT-CYB missense . . No References Variant Details
233 15405 T C MT-CYB missense . . No References Variant Details
234 15665 - ATTCA . . . . No References Variant Details
235 15730 A G . . . . No References Variant Details
236 15754 C A . . . . No References Variant Details
237 15868 C G MT-CYB missense . . No References Variant Details
238 16091 A C . . . . No References Variant Details
239 16129 G A . . . . No References Variant Details
240 16189 T - . . . . No References Variant Details
241 16189 T C . . . . No References Variant Details
242 16223 C T . . . . No References Variant Details
243 16297 T - . . . . No References Variant Details
244 16298 T C . . . . No References Variant Details
245 16306 C T . . . . No References Variant Details
246 16328 C A . . . . No References Variant Details
247 16449 C A . . . . No References Variant Details
248 16453 C T . . . . No References Variant Details
No. Position Ref Alt Gene Symbol Functional Effect MITOMAP Disease Clinical Information MITOMAP Disease Clinical Status References Details