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
2 130 G T . . . . No References Variant Details
3 195 T C . . . . No References Variant Details
4 216 T G . . . . No References Variant Details
5 225 G T . . . . No References Variant Details
6 230 A T . . . . No References Variant Details
7 237 - GG . . . . No References Variant Details
8 240 AA - . . . . No References Variant Details
9 245 T A . . . . No References Variant Details
10 260 G A . . . . No References Variant Details
11 263 A G . . . . No References Variant Details
12 302 - C . . . . No References Variant Details
13 310 - C . . . . No References Variant Details
14 419 A G . . . . No References Variant Details
15 489 T C . . . . No References Variant Details
16 531 T A . . . . No References Variant Details
17 538 A C . . . . No References Variant Details
18 539 T A . . . . No References Variant Details
19 541 C A . . . . No References Variant Details
20 544 C A . . . . No References Variant Details
21 709 G A . . . . No References Variant Details
22 750 A G . . . . No References Variant Details
23 778 C A . . . . No References Variant Details
24 781 A T . . . . No References Variant Details
25 819 A G . . . . No References Variant Details
26 932 C A . . . . No References Variant Details
27 1129 T C . . . . No References Variant Details
28 1203 C G . . . . No References Variant Details
29 1211 G A . . . . No References Variant Details
30 1264 C T . . . . No References Variant Details
31 1300 A G . . . . No References Variant Details
32 1398 T C . . . . No References Variant Details
33 1417 A C . . . . No References Variant Details
34 1428 G T . . . . No References Variant Details
35 1438 A G . . . . No References Variant Details
36 1778 T C . . . . No References Variant Details
37 2067 C A . . . . No References Variant Details
38 2071 T C . . . . No References Variant Details
39 2283 C A . . . . No References Variant Details
40 2706 A G . . . . No References Variant Details
41 2719 G T . . . . No References Variant Details
42 2756 C T . . . . No References Variant Details
43 2770 C A . . . . No References Variant Details
44 2866 A G . . . . No References Variant Details
45 2879 A T . . . . No References Variant Details
46 2897 A C . . . . No References Variant Details
47 2902 A C . . . . No References Variant Details
48 2903 T G . . . . No References Variant Details
49 3079 G A . . . . No References Variant Details
50 3136 A G . . . . No References Variant Details
51 3245 C G . . . . No References Variant Details
52 3246 C G . . . . No References Variant Details
53 3254 C A . . . . No References Variant Details
54 3432 C A . . . . No References Variant Details
55 3572 T G MT-ND1 missense . . No References Variant Details
56 3578 T A MT-ND1 missense . . No References Variant Details
57 3590 T A MT-ND1 missense . . No References Variant Details
58 3599 T A MT-ND1 missense . . No References Variant Details
59 3605 T A MT-ND1 missense . . No References Variant Details
60 3611 T A MT-ND1 missense . . No References Variant Details
61 3614 T A MT-ND1 missense . . No References Variant Details
62 3616 T A MT-ND1 missense . . No References Variant Details
63 3620 T A MT-ND1 missense . . No References Variant Details
64 3622 C A MT-ND1 missense . . No References Variant Details
65 3623 T A MT-ND1 missense . . No References Variant Details
66 3626 C A MT-ND1 missense . . No References Variant Details
67 3631 T A MT-ND1 missense . . No References Variant Details
68 3633 T A . . . . No References Variant Details
69 3638 T A MT-ND1 missense . . No References Variant Details
70 3640 G C MT-ND1 missense . . References (1) Variant Details
71 3644 T G MT-ND1 missense . . References (2) Variant Details
72 3658 T A . . . . No References Variant Details
73 3666 G T . . . . No References Variant Details
74 3676 A T MT-ND1 missense . . No References Variant Details
75 3807 A G . . . . No References Variant Details
76 3844 C A MT-ND1 missense . . No References Variant Details
77 3867 C A MT-ND1 missense . . No References Variant Details
78 3906 T A . . . . No References Variant Details
79 3940 A G MT-ND1 missense . . No References Variant Details
80 4149 C G . . . . No References Variant Details
81 4152 C A . . . . No References Variant Details
82 4168 C A MT-ND1 missense . . No References Variant Details
83 4463 C A . . . . No References Variant Details
84 4513 C T MT-ND2 missense . . No References Variant Details
85 4769 A G . . . . No References Variant Details
86 4859 T C . . . . No References Variant Details
87 5108 T C . . . . No References Variant Details
88 5136 T C MT-ND2 missense . . No References Variant Details
89 5243 C A . . . . No References Variant Details
90 5385 C A MT-ND2 missense . . No References Variant Details
91 5601 C T . . . . No References Variant Details
92 5637 T A . . . . No References Variant Details
93 5739 C G . . . . No References Variant Details
94 5877 C G . . . . No References Variant Details
95 5878 T A . . . . No References Variant Details
96 5890 C A . . . . No References Variant Details
97 5897 C A . . . . No References Variant Details
98 5918 T A . . . . No References Variant Details
99 5944 A G MT-CO1 missense . . No References Variant Details
100 5953 C T MT-CO1 missense . . No References Variant Details
101 5988 C A MT-CO1 missense . . No References Variant Details
102 5993 C A . . . . No References Variant Details
103 5994 A C MT-CO1 missense . . No References Variant Details
104 5996 A T . . . . No References Variant Details
105 6005 C A . . . . No References Variant Details
106 6048 G T MT-CO1 missense . . No References Variant Details
107 6164 C A MT-CO1 missense . . No References Variant Details
108 6273 A G MT-CO1 missense . . No References Variant Details
109 6737 A G . . . . No References Variant Details
110 7028 C T . . . . No References Variant Details
111 7093 T C MT-CO1 missense . . No References Variant Details
112 7205 C A . . . . No References Variant Details
113 7499 C A . . . . No References Variant Details
114 7504 A T . . . . No References Variant Details
115 7507 A T . . . . No References Variant Details
116 7515 A T . . . . No References Variant Details
117 7536 T C . . . . No References Variant Details
118 7600 G A . . . . No References Variant Details
119 8272 C A . . . . No References Variant Details
120 8701 A G MT-ATP6 missense . . References (102) Variant Details
121 8748 C T . . . . No References Variant Details
122 8860 A G MT-ATP6 missense . . References (124) Variant Details
123 8964 C T . . . . No References Variant Details
124 9316 T C MT-CO3 missense . . References (4) Variant Details
125 9334 T C MT-CO3 missense . . No References Variant Details
126 9346 T C MT-CO3 missense . . No References Variant Details
127 9364 C G MT-CO3 missense . . No References Variant Details
128 9377 A G . . . . No References Variant Details
129 9540 T C . . . . No References Variant Details
130 9561 A G MT-CO3 missense . . No References Variant Details
131 9575 G A . . . . No References Variant Details
132 10013 C A . . . . No References Variant Details
133 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
134 10400 C T . . . . No References Variant Details
135 10604 T G . . . . No References Variant Details
136 10608 A T MT-ND4L missense . . No References Variant Details
137 10610 A C MT-ND4L missense . . No References Variant Details
138 10614 - CTCTCCATGCA . . . . No References Variant Details
139 10810 T G . . . . No References Variant Details
140 10843 C A . . . . No References Variant Details
141 10865 A G MT-ND4 missense . . No References Variant Details
142 10873 T C . . . . No References Variant Details
143 10962 T A MT-ND4 missense . . No References Variant Details
144 10966 T A . . . . No References Variant Details
145 10970 T A . . . . No References Variant Details
146 10983 T A MT-ND4 missense . . No References Variant Details
147 11268 C A MT-ND4 missense . . No References Variant Details
148 11382 C A MT-ND4 missense . . No References Variant Details
149 11533 C A . . . . No References Variant Details
150 11593 A C . . . . No References Variant Details
151 11618 G C MT-ND4 missense . . No References Variant Details
152 11719 G A . . . . No References Variant Details
153 11751 A G MT-ND4 missense . . No References Variant Details
154 11766 G C MT-ND4 missense . . No References Variant Details
155 11778 G C MT-ND4 missense . . No References Variant Details
156 11779 C A . . . . No References Variant Details
157 11781 T A MT-ND4 missense . . No References Variant Details
158 11861 G T MT-ND4 missense . . No References Variant Details
159 11866 A C MT-ND4 missense . . No References Variant Details
160 11868 - CT . . . . No References Variant Details
161 11873 ACTAT - . . . . No References Variant Details
162 11879 A C MT-ND4 missense . . No References Variant Details
163 11880 A C MT-ND4 missense . . No References Variant Details
164 11884 A C . . . . No References Variant Details
165 12004 A C MT-ND4 missense . . No References Variant Details
166 12275 G T . . . . No References Variant Details
167 12292 T A . . . . No References Variant Details
168 12311 T C . . . . No References Variant Details
169 12484 C G MT-ND5 missense . . References (1) Variant Details
170 12496 T G MT-ND5 missense . . No References Variant Details
171 12523 A C MT-ND5 missense . . No References Variant Details
172 12542 C A MT-ND5 missense . . No References Variant Details
173 12551 A T MT-ND5 missense . . No References Variant Details
174 12553 A T MT-ND5 missense . . No References Variant Details
175 12557 C A MT-ND5 missense . . No References Variant Details
176 12569 T A MT-ND5 missense . . No References Variant Details
177 12572 G T MT-ND5 missense . . No References Variant Details
178 12608 C A MT-ND5 missense . . No References Variant Details
179 12705 C T . . . . No References Variant Details
180 12791 T A MT-ND5 missense . . No References Variant Details
181 12797 T A MT-ND5 missense . . No References Variant Details
182 12827 C A MT-ND5 missense . . No References Variant Details
183 13027 C A MT-ND5 missense . . No References Variant Details
184 13031 G T MT-ND5 missense . . No References Variant Details
185 13197 C G MT-ND5 missense . . No References Variant Details
186 13204 G T MT-ND5 missense . . No References Variant Details
187 13209 C G MT-ND5 missense . . No References Variant Details
188 13214 T A MT-ND5 missense . . No References Variant Details
189 13244 C T MT-ND5 missense . . No References Variant Details
190 13563 A G . . . . No References Variant Details
191 13623 CACC - . . . . No References Variant Details
192 13643 G A MT-ND5 missense . . No References Variant Details
193 13646 T C MT-ND5 missense . . References (1) Variant Details
194 13804 G T MT-ND5 missense . . No References Variant Details
195 13830 T A . . . . No References Variant Details
196 14167 C G MT-ND6 missense . . No References Variant Details
197 14200 T C . . . . No References Variant Details
198 14283 C A MT-ND6 missense . . No References Variant Details
199 14383 C A . . . . No References Variant Details
200 14399 A T MT-ND6 missense . . No References Variant Details
201 14419 C A . . . . No References Variant Details
202 14420 C G MT-ND6 missense . . No References Variant Details
203 14421 C A MT-ND6 missense . . No References Variant Details
204 14436 C G MT-ND6 missense . . No References Variant Details
205 14569 G A . . . . No References Variant Details
206 14598 T G MT-ND6 missense . . No References Variant Details
207 14766 C A MT-CYB missense . . No References Variant Details
208 14783 T C . . . . No References Variant Details
209 14784 T A . . . . No References Variant Details
210 14787 T G MT-CYB missense . . No References Variant Details
211 14802 T A MT-CYB missense . . No References Variant Details
212 14807 C A MT-CYB missense . . No References Variant Details
213 14817 C T MT-CYB missense . . No References Variant Details
214 14824 C A MT-CYB missense . . No References Variant Details
215 14826 T A MT-CYB missense . . No References Variant Details
216 14830 C A . . . . No References Variant Details
217 14849 T A MT-CYB missense . . No References Variant Details
218 14853 T A MT-CYB missense . . No References Variant Details
219 14874 T C MT-CYB missense . . No References Variant Details
220 14910 A T MT-CYB missense . . No References Variant Details
221 15043 G A . . . . No References Variant Details
222 15207 C A MT-CYB missense . . No References Variant Details
223 15238 C T . . . . No References Variant Details
224 15285 C T MT-CYB missense . . No References Variant Details
225 15301 G A . . . . No References Variant Details
226 15326 A G MT-CYB missense . . References (116) Variant Details
227 15609 T A MT-CYB missense . . No References Variant Details
228 15617 G T MT-CYB missense . . No References Variant Details
229 15676 C A . . . . No References Variant Details
230 15880 A C MT-CYB missense . . No References Variant Details
231 15913 C A . . . . No References Variant Details
232 15930 G A . . . . No References Variant Details
233 16150 C T . . . . No References Variant Details
234 16192 C T . . . . No References Variant Details
235 16223 C T . . . . No References Variant Details
236 16278 C T . . . . No References Variant Details
237 16362 T C . . . . No References Variant Details
238 16454 C G . . . . No References Variant Details
239 16519 T C . . . . No References Variant Details
240 16527 C A . . . . No References Variant Details
No. Position Ref Alt Gene Symbol Functional Effect MITOMAP Disease Clinical Information MITOMAP Disease Clinical Status References Details