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
2 259 A G . . . . No References Variant Details
3 263 A G . . . . No References Variant Details
4 302 A G . . . . No References Variant Details
5 310 - C . . . . No References Variant Details
6 489 T C . . . . No References Variant Details
7 514 CA - . . . . No References Variant Details
8 715 G A . . . . No References Variant Details
9 750 A G . . . . No References Variant Details
10 930 G C . . . . No References Variant Details
11 1438 A G . . . . No References Variant Details
12 1598 G A . . . . No References Variant Details
13 2457 A - . . . . No References Variant Details
14 2706 A G . . . . No References Variant Details
15 3074 A T . . . . No References Variant Details
16 3101 A T . . . . No References Variant Details
17 3583 A C MT-ND1 missense . . References (1) Variant Details
18 3806 C T MT-ND1 missense . . No References Variant Details
19 4769 A G . . . . No References Variant Details
20 7028 C T . . . . No References Variant Details
21 7107 G T MT-CO1 missense . . No References Variant Details
22 7121 C G MT-CO1 missense . . No References Variant Details
23 7124 A T MT-CO1 missense . . No References Variant Details
24 7706 G A MT-CO2 missense Alpers-Huttenlocher-like Reported References (5) Variant Details
25 7714 C A MT-CO2 missense . . No References Variant Details
26 7778 T C MT-CO2 missense . . No References Variant Details
27 7793 G A MT-CO2 missense . . No References Variant Details
28 8666 A C MT-ATP6 missense . . No References Variant Details
29 8683 A C MT-ATP6 missense . . No References Variant Details
30 8701 A G MT-ATP6 missense . . References (102) Variant Details
31 8860 A G MT-ATP6 missense . . References (124) Variant Details
32 9377 A G . . . . No References Variant Details
33 9512 C A . . . . No References Variant Details
34 9540 T C . . . . No References Variant Details
35 9552 T C MT-CO3 missense . . No References Variant Details
36 10162 C A MT-ND3 missense . . No References Variant Details
37 10165 C A MT-ND3 missense . . No References Variant Details
38 10359 A G MT-ND3 missense . . No References Variant Details
39 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
40 10400 C T . . . . No References Variant Details
41 10797 C A MT-ND4 missense . . No References Variant Details
42 10873 T C . . . . No References Variant Details
43 11004 G A MT-ND4 missense . . No References Variant Details
44 11076 T C MT-ND4 missense . . No References Variant Details
45 11150 G A MT-ND4 missense Found in a Multiple Sclerosis patient Reported References (4) Variant Details
46 11719 G A . . . . No References Variant Details
47 12705 C T . . . . No References Variant Details
48 12973 C T . . . . No References Variant Details
49 13761 A C . . . . No References Variant Details
50 13773 A C MT-ND5 missense . . No References Variant Details
51 14528 C T MT-ND6 missense . . No References Variant Details
52 14766 C T MT-CYB missense . . References (113) Variant Details
53 14783 T C . . . . No References Variant Details
54 14845 C T . . . . No References Variant Details
55 15043 G A . . . . No References Variant Details
56 15301 G A . . . . No References Variant Details
57 15326 A G MT-CYB missense . . References (116) Variant Details
58 16111 C A . . . . No References Variant Details
59 16115 C A . . . . No References Variant Details
60 16129 - AA . . . . No References Variant Details
61 16130 G A . . . . No References Variant Details
62 16133 C - . . . . No References Variant Details
63 16137 - GCGGTTGTTGATGGGTGAGTC . . . . No References Variant Details
64 16140 T C . . . . No References Variant Details
65 16209 T C . . . . No References Variant Details
66 16222 C T . . . . No References Variant Details
67 16223 C T . . . . No References Variant Details
68 16274 G A . . . . No References Variant Details
69 16278 C T . . . . No References Variant Details
70 16284 A G . . . . No References Variant Details
71 16288 T C . . . . No References Variant Details
72 16304 T C . . . . No References Variant Details
73 16311 T C . . . . No References Variant Details
74 16352 T C . . . . No References Variant Details
75 16353 C T . . . . No References Variant Details
No. Position Ref Alt Gene Symbol Functional Effect MITOMAP Disease Clinical Information MITOMAP Disease Clinical Status References Details