No. Position Ref Alt Gene Symbol Functional Effect MITOMAP Disease Clinical Information MITOMAP Disease Clinical Status References Details
1 19 C A . . . . No References Variant Details
2 73 A G . . . . No References Variant Details
3 187 G C . . . . No References Variant Details
4 189 A G . . . . No References Variant Details
5 263 A G . . . . No References Variant Details
6 290 - AT . . . . No References Variant Details
7 310 - C . . . . No References Variant Details
8 489 T C . . . . No References Variant Details
9 527 C T . . . . No References Variant Details
10 567 - CCCC . . . . No References Variant Details
11 709 G A . . . . No References Variant Details
12 750 A G . . . . No References Variant Details
13 930 G C . . . . No References Variant Details
14 1311 C A . . . . No References Variant Details
15 1418 G A . . . . No References Variant Details
16 1438 A G . . . . No References Variant Details
17 1598 G A . . . . No References Variant Details
18 1842 A G . . . . No References Variant Details
19 2478 G A . . . . No References Variant Details
20 2702 G A . . . . No References Variant Details
21 2706 A G . . . . No References Variant Details
22 2746 T C . . . . No References Variant Details
23 3283 G T . . . . No References Variant Details
24 3355 A G MT-ND1 missense . . References (1) Variant Details
25 3376 G C MT-ND1 missense . . No References Variant Details
26 3476 C T MT-ND1 missense . . References (1) Variant Details
27 3978 C A MT-ND1 missense . . No References Variant Details
28 4051 G A MT-ND1 missense . . No References Variant Details
29 4206 A G . . . . No References Variant Details
30 4529 A G . . . . No References Variant Details
31 4693 T C MT-ND2 missense . . No References Variant Details
32 4769 A G . . . . No References Variant Details
33 4849 G A MT-ND2 missense . . No References Variant Details
34 5880 A G . . . . No References Variant Details
35 6263 C A . . . . No References Variant Details
36 6266 A C . . . . No References Variant Details
37 7028 C T . . . . No References Variant Details
38 7627 C T . . . . No References Variant Details
39 7712 T C MT-CO2 missense . . No References Variant Details
40 8206 G T MT-CO2 missense . . References (1) Variant Details
41 8701 A G MT-ATP6 missense . . References (102) Variant Details
42 8860 A G MT-ATP6 missense . . References (124) Variant Details
43 9540 T C . . . . No References Variant Details
44 9790 C A . . . . No References Variant Details
45 10319 A G . . . . No References Variant Details
46 10338 T G MT-ND3 missense . . No References Variant Details
47 10346 C A MT-ND3 missense . . No References Variant Details
48 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
49 10400 C T . . . . No References Variant Details
50 10691 C A . . . . No References Variant Details
51 10873 T C . . . . No References Variant Details
52 10980 C A MT-ND4 missense . . No References Variant Details
53 11065 AC - . . . . No References Variant Details
54 11089 C T . . . . No References Variant Details
55 11213 T C MT-ND4 missense . . No References Variant Details
56 11642 G T MT-ND4 missense . . No References Variant Details
57 11719 G A . . . . No References Variant Details
58 11914 G A . . . . No References Variant Details
59 12087 C A MT-ND4 missense . . No References Variant Details
60 12417 - A . . . . No References Variant Details
61 12635 T C MT-ND5 missense . . No References Variant Details
62 12705 C T . . . . No References Variant Details
63 12835 G A MT-ND5 missense . . No References Variant Details
64 12973 C T . . . . No References Variant Details
65 13022 T G MT-ND5 missense . . No References Variant Details
66 13062 A G . . . . No References Variant Details
67 13368 G A . . . . No References Variant Details
68 14081 G A MT-ND5 missense . . No References Variant Details
69 14106 T C . . . . No References Variant Details
70 14470 T C . . . . No References Variant Details
71 14528 C A MT-ND6 missense . . No References Variant Details
72 14544 G A . . . . No References Variant Details
73 14766 C T MT-CYB missense . . References (113) Variant Details
74 14783 T C . . . . No References Variant Details
75 14833 A C . . . . No References Variant Details
76 14864 T C MT-CYB missense MELAS Reported References (1) Variant Details
77 15043 G A . . . . No References Variant Details
78 15236 A G MT-CYB missense Possible LHON helper (one 11778 patient) Reported References (21) Variant Details
79 15301 G A . . . . No References Variant Details
80 15326 A G MT-CYB missense . . References (116) Variant Details
81 15479 T C MT-CYB missense . . References (4) Variant Details
82 15517 C T . . . . No References Variant Details
83 15613 A T . . . . No References Variant Details
84 16180 A - . . . . No References Variant Details
85 16182 A C . . . . No References Variant Details
86 16183 A C . . . . No References Variant Details
87 16189 T C . . . . No References Variant Details
88 16209 T C . . . . No References Variant Details
89 16223 C T . . . . No References Variant Details
90 16519 T C . . . . No References Variant Details
No. Position Ref Alt Gene Symbol Functional Effect MITOMAP Disease Clinical Information MITOMAP Disease Clinical Status References Details