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
2 141 C T . . . . No References Variant Details
3 150 C T . . . . No References Variant Details
4 263 A G . . . . No References Variant Details
5 302 A G . . . . No References Variant Details
6 305 - GCGGGGCCGG . . . . No References Variant Details
7 306 C G . . . . No References Variant Details
8 309 CT - . . . . No References Variant Details
9 310 - C . . . . No References Variant Details
10 315 - CGG . . . . No References Variant Details
11 372 T C . . . . No References Variant Details
12 381 C T . . . . No References Variant Details
13 557 C A . . . . No References Variant Details
14 578 T G . . . . No References Variant Details
15 593 T A . . . . No References Variant Details
16 601 G T . . . . No References Variant Details
17 702 C A . . . . No References Variant Details
18 719 G T . . . . No References Variant Details
19 723 A T . . . . No References Variant Details
20 727 T C . . . . No References Variant Details
21 728 C T . . . . No References Variant Details
22 730 A T . . . . No References Variant Details
23 735 A T . . . . No References Variant Details
24 748 G T . . . . No References Variant Details
25 750 A G . . . . No References Variant Details
26 754 A T . . . . No References Variant Details
27 1027 A G . . . . No References Variant Details
28 1271 C T . . . . No References Variant Details
29 1328 G T . . . . No References Variant Details
30 1351 G A . . . . No References Variant Details
31 1438 A G . . . . No References Variant Details
32 1546 A G . . . . No References Variant Details
33 2446 A T . . . . No References Variant Details
34 2706 A G . . . . No References Variant Details
35 2727 C A . . . . No References Variant Details
36 2745 A G . . . . No References Variant Details
37 3123 G C . . . . No References Variant Details
38 3166 T A . . . . No References Variant Details
39 3184 C T . . . . No References Variant Details
40 3186 T G . . . . No References Variant Details
41 3222 C T . . . . No References Variant Details
42 3225 G T . . . . No References Variant Details
43 3241 A T . . . . No References Variant Details
44 3250 T A . . . . No References Variant Details
45 3278 T C . . . . No References Variant Details
46 3280 A T . . . . No References Variant Details
47 3287 C A . . . . No References Variant Details
48 3337 G A MT-ND1 missense Cardiomyopathy Reported - possibly synergistic References (5) Variant Details
49 3424 G - . . . . No References Variant Details
50 3436 G T MT-ND1 missense . . No References Variant Details
51 3438 - GATAAACAAA . . . . No References Variant Details
52 3552 T A . . . . No References Variant Details
53 3561 A C . . . . No References Variant Details
54 3564 AACC - . . . . No References Variant Details
55 3567 - TGGG . . . . No References Variant Details
56 3572 T G MT-ND1 missense . . No References Variant Details
57 3577 A C MT-ND1 missense . . No References Variant Details
58 3578 T G . . . . No References Variant Details
59 3579 A G . . . . No References Variant Details
60 3583 AA - . . . . No References Variant Details
61 3583 A C MT-ND1 missense . . References (1) Variant Details
62 3585 C A MT-ND1 missense . . No References Variant Details
63 3590 T C MT-ND1 missense . . References (1) Variant Details
64 3593 T G MT-ND1 missense . . No References Variant Details
65 3595 A C MT-ND1 missense . . No References Variant Details
66 3599 T A MT-ND1 missense . . No References Variant Details
67 3601 A C MT-ND1 missense . . No References Variant Details
68 3605 T A MT-ND1 missense . . No References Variant Details
69 3607 G C MT-ND1 missense . . No References Variant Details
70 3609 C G . . . . No References Variant Details
71 3611 T G MT-ND1 missense . . No References Variant Details
72 3614 T G MT-ND1 missense . . No References Variant Details
73 3616 T A MT-ND1 missense . . No References Variant Details
74 3622 C A MT-ND1 missense . . No References Variant Details
75 3631 T A MT-ND1 missense . . No References Variant Details
76 3638 T A MT-ND1 missense . . No References Variant Details
77 3644 T G MT-ND1 missense . . References (2) Variant Details
78 3652 A G MT-ND1 missense . . References (1) Variant Details
79 3915 G T . . . . No References Variant Details
80 3916 G C MT-ND1 missense . . No References Variant Details
81 3930 C G . . . . No References Variant Details
82 3934 G A MT-ND1 missense . . No References Variant Details
83 3937 T G MT-ND1 missense . . No References Variant Details
84 3962 C A MT-ND1 missense . . No References Variant Details
85 3983 C G MT-ND1 missense . . No References Variant Details
86 3988 T A MT-ND1 missense . . No References Variant Details
87 4003 A C MT-ND1 missense . . No References Variant Details
88 4006 A T MT-ND1 missense . . No References Variant Details
89 4015 C G MT-ND1 missense . . No References Variant Details
90 4018 A T MT-ND1 missense . . No References Variant Details
91 4027 A C MT-ND1 missense . . No References Variant Details
92 4228 C A MT-ND1 missense . . No References Variant Details
93 4769 A G . . . . No References Variant Details
94 4785 C A MT-ND2 missense . . No References Variant Details
95 5076 C A MT-ND2 missense . . No References Variant Details
96 5231 G A . . . . No References Variant Details
97 5266 T G MT-ND2 missense . . No References Variant Details
98 5280 A T MT-ND2 missense . . No References Variant Details
99 5417 G A . . . . No References Variant Details
100 5466 A T MT-ND2 missense . . No References Variant Details
101 5554 C T . . . . No References Variant Details
102 5841 T A . . . . No References Variant Details
103 5853 T C . . . . No References Variant Details
104 5856 G C . . . . No References Variant Details
105 5858 T A . . . . No References Variant Details
106 5865 T A . . . . No References Variant Details
107 5870 T A . . . . No References Variant Details
108 5886 T A . . . . No References Variant Details
109 5887 T A . . . . No References Variant Details
110 5902 T A . . . . No References Variant Details
111 6855 G T MT-CO1 missense . . No References Variant Details
112 6956 T C . . . . No References Variant Details
113 7028 C T . . . . No References Variant Details
114 7129 A T MT-CO1 missense . . No References Variant Details
115 7400 C T . . . . No References Variant Details
116 7489 A G . . . . No References Variant Details
117 7518 A G . . . . No References Variant Details
118 7958 C T MT-CO2 missense . . References (1) Variant Details
119 8041 A C MT-CO2 missense . . No References Variant Details
120 8082 C T MT-CO2 missense . . No References Variant Details
121 8269 G A . . . . No References Variant Details
122 8278 C G . . . . No References Variant Details
123 8751 A G . . . . No References Variant Details
124 8805 A G . . . . No References Variant Details
125 8860 A G MT-ATP6 missense . . References (124) Variant Details
126 9093 A T . . . . No References Variant Details
127 9097 A T MT-ATP6 missense . . No References Variant Details
128 9130 C A MT-ATP6 missense . . No References Variant Details
129 9137 T A MT-ATP6 missense . . No References Variant Details
130 9159 C G . . . . No References Variant Details
131 9458 C A MT-CO3 missense . . No References Variant Details
132 9695 G T . . . . No References Variant Details
133 9838 G A MT-CO3 missense . . No References Variant Details
134 9858 T C MT-CO3 missense . . No References Variant Details
135 9906 G T MT-CO3 missense . . No References Variant Details
136 10062 A T MT-ND3 missense . . No References Variant Details
137 10063 A T MT-ND3 missense . . No References Variant Details
138 10064 C G MT-ND3 missense . . No References Variant Details
139 10608 A G MT-ND4L missense . . No References Variant Details
140 10644 G T MT-ND4L missense . . No References Variant Details
141 10646 G T . . . . No References Variant Details
142 10669 C T MT-ND4L missense . . No References Variant Details
143 10820 C A MT-ND4 missense . . No References Variant Details
144 11053 A G . . . . No References Variant Details
145 11145 C T MT-ND4 missense . . No References Variant Details
146 11301 T A MT-ND4 missense . . No References Variant Details
147 11719 G A . . . . No References Variant Details
148 11725 A C . . . . No References Variant Details
149 11727 C G MT-ND4 missense . . No References Variant Details
150 11746 A C . . . . No References Variant Details
151 11893 A G . . . . No References Variant Details
152 11918 T A MT-ND4 missense . . No References Variant Details
153 11951 C T MT-ND4 missense . . No References Variant Details
154 12336 A T . . . . No References Variant Details
155 12345 G T MT-ND5 missense . . No References Variant Details
156 12346 C A MT-ND5 missense . . No References Variant Details
157 12358 A G MT-ND5 missense . . References (34) Variant Details
158 12361 A T MT-ND5 missense . . No References Variant Details
159 12365 T G MT-ND5 missense . . No References Variant Details
160 12366 A T . . . . No References Variant Details
161 12369 C A . . . . No References Variant Details
162 12372 G A . . . . No References Variant Details
163 12373 A G MT-ND5 missense . . References (2) Variant Details
164 12378 C A . . . . No References Variant Details
165 12379 C A MT-ND5 missense . . No References Variant Details
166 12386 C A MT-ND5 missense . . No References Variant Details
167 12387 C A . . . . No References Variant Details
168 12394 C A MT-ND5 missense . . No References Variant Details
169 12398 C A MT-ND5 missense . . No References Variant Details
170 12399 C A . . . . No References Variant Details
171 12402 C A . . . . No References Variant Details
172 12411 C A MT-ND5 missense . . No References Variant Details
173 12705 C T . . . . No References Variant Details
174 12771 G A . . . . No References Variant Details
175 13348 A T MT-ND5 missense . . No References Variant Details
176 13353 A T . . . . No References Variant Details
177 13380 C T . . . . No References Variant Details
178 13427 A T MT-ND5 missense . . No References Variant Details
179 13489 T G MT-ND5 missense . . No References Variant Details
180 13761 A G . . . . No References Variant Details
181 13762 T G MT-ND5 missense . . References (3) Variant Details
182 13763 C G MT-ND5 missense . . No References Variant Details
183 13768 T G MT-ND5 missense . . No References Variant Details
184 13769 T G MT-ND5 missense . . No References Variant Details
185 13772 A G MT-ND5 missense . . No References Variant Details
186 13773 A T MT-ND5 missense . . No References Variant Details
187 13774 A G MT-ND5 missense . . No References Variant Details
188 13776 A G . . . . No References Variant Details
189 13779 A G . . . . No References Variant Details
190 13787 T G MT-ND5 missense . . No References Variant Details
191 13789 T G MT-ND5 missense . . No References Variant Details
192 13793 T A MT-ND5 missense . . No References Variant Details
193 13794 A G . . . . No References Variant Details
194 13797 A G . . . . No References Variant Details
195 13799 T G MT-ND5 missense . . No References Variant Details
196 13803 A G . . . . No References Variant Details
197 13808 T G MT-ND5 missense . . No References Variant Details
198 13812 T A . . . . No References Variant Details
199 13815 C A . . . . No References Variant Details
200 13818 T A . . . . No References Variant Details
201 13823 T A MT-ND5 missense . . No References Variant Details
202 13843 G A MT-ND5 missense . . No References Variant Details
203 13845 C A MT-ND5 missense . . No References Variant Details
204 14201 C A MT-ND6 missense . . No References Variant Details
205 14267 C T MT-ND6 missense . . No References Variant Details
206 14478 C G MT-ND6 missense . . No References Variant Details
207 14766 C T MT-CYB missense . . References (113) Variant Details
208 14786 A G MT-CYB missense . . No References Variant Details
209 15326 A G MT-CYB missense . . References (116) Variant Details
210 15702 C A MT-CYB missense . . No References Variant Details
211 15787 T C . . . . No References Variant Details
212 16105 T A . . . . No References Variant Details
213 16170 A C . . . . No References Variant Details
214 16171 A C . . . . No References Variant Details
215 16175 A C . . . . No References Variant Details
216 16180 AA - . . . . No References Variant Details
217 16182 A C . . . . No References Variant Details
218 16183 A C . . . . No References Variant Details
219 16189 T C . . . . No References Variant Details
220 16223 C T . . . . No References Variant Details
221 16257 C A . . . . No References Variant Details
222 16261 C T . . . . No References Variant Details
223 16355 C T . . . . No References Variant Details
224 16356 T C . . . . No References Variant Details
225 16368 T C . . . . No References Variant Details
226 16390 G A . . . . No References Variant Details
227 16399 A G . . . . No References Variant Details
228 16565 C A . . . . No References Variant Details
No. Position Ref Alt Gene Symbol Functional Effect MITOMAP Disease Clinical Information MITOMAP Disease Clinical Status References Details