No. Position Ref Alt Gene Symbol Functional Effect MITOMAP Disease Clinical Information MITOMAP Disease Clinical Status References Details
1 72 T C . . . . No References Variant Details
2 73 A G . . . . No References Variant Details
3 152 T C . . . . No References Variant Details
4 210 A G . . . . No References Variant Details
5 222 C A . . . . No References Variant Details
6 263 A G . . . . No References Variant Details
7 300 A C . . . . No References Variant Details
8 302 - C . . . . No References Variant Details
9 308 - GCGG . . . . No References Variant Details
10 310 - C . . . . No References Variant Details
11 342 T A . . . . No References Variant Details
12 466 T G . . . . No References Variant Details
13 472 A G . . . . No References Variant Details
14 473 C A . . . . No References Variant Details
15 483 C A . . . . No References Variant Details
16 514 CA - . . . . No References Variant Details
17 709 G A . . . . No References Variant Details
18 730 A G . . . . No References Variant Details
19 750 A G . . . . No References Variant Details
20 1067 AAACTGGGATTAGATACCCCACTATGCTTAGCCCT - . . . . No References Variant Details
21 1109 A - . . . . No References Variant Details
22 1110 A T . . . . No References Variant Details
23 1438 A G . . . . No References Variant Details
24 1439 A T . . . . No References Variant Details
25 2068 C A . . . . No References Variant Details
26 2074 A C . . . . No References Variant Details
27 2128 G T . . . . No References Variant Details
28 2150 T A . . . . No References Variant Details
29 2166 C A . . . . No References Variant Details
30 2218 C G . . . . No References Variant Details
31 2701 G T . . . . No References Variant Details
32 2706 A G . . . . No References Variant Details
33 3094 G C . . . . No References Variant Details
34 3102 T C . . . . No References Variant Details
35 3537 A G . . . . No References Variant Details
36 3883 A T MT-ND1 missense . . No References Variant Details
37 3890 G T MT-ND1 missense . . No References Variant Details
38 3903 C G MT-ND1 missense . . No References Variant Details
39 3917 A G MT-ND1 missense . . No References Variant Details
40 3920 C A MT-ND1 missense . . No References Variant Details
41 3927 A T . . . . No References Variant Details
42 3930 C A . . . . No References Variant Details
43 3932 C A . . . . No References Variant Details
44 3933 A T . . . . No References Variant Details
45 3935 G T MT-ND1 missense . . No References Variant Details
46 3947 A T MT-ND1 missense . . No References Variant Details
47 4068 C T . . . . No References Variant Details
48 4072 A G MT-ND1 missense . . No References Variant Details
49 4086 C T . . . . No References Variant Details
50 4087 A C MT-ND1 missense . . No References Variant Details
51 4089 C T . . . . No References Variant Details
52 4091 A G . . . . No References Variant Details
53 4149 C A . . . . No References Variant Details
54 4234 A T MT-ND1 missense . . No References Variant Details
55 4256 A T MT-ND1 missense . . No References Variant Details
56 4270 - CATATAA . . . . No References Variant Details
57 4271 - TAATGCTAGGGATTGTAATGGGTATGGAGACATA . . . . No References Variant Details
58 4391 C A . . . . No References Variant Details
59 4769 A G . . . . No References Variant Details
60 5651 C T . . . . No References Variant Details
61 5665 A G . . . . No References Variant Details
62 5767 C T . . . . No References Variant Details
63 6742 T C MT-CO1 missense Acquired Idiopathic Sideroblastic Anemia Reported [VUS] References (2) Variant Details
64 6958 G A MT-CO1 missense . . No References Variant Details
65 6960 C T . . . . No References Variant Details
66 6995 C T . . . . No References Variant Details
67 7028 C T . . . . No References Variant Details
68 7439 A G . . . . No References Variant Details
69 7441 - ACTCCAGGTT . . . . No References Variant Details
70 7443 - TG . . . . No References Variant Details
71 8271 ACCCCCTCT - . . . . No References Variant Details
72 8330 T A . . . . No References Variant Details
73 8440 A G . . . . No References Variant Details
74 8462 T A MT-ATP8 missense . . No References Variant Details
75 8468 C A MT-ATP8 missense . . No References Variant Details
76 8469 T A MT-ATP8 missense . . No References Variant Details
77 8471 C A MT-ATP8 missense . . No References Variant Details
78 8475 C A MT-ATP8 missense . . No References Variant Details
79 8476 C A . . . . No References Variant Details
80 8548 T A MT-ATP6 missense . . No References Variant Details
81 8552 T A MT-ATP8 missense . . No References Variant Details
82 8570 T A MT-ATP6 missense . . No References Variant Details
83 8573 G A MT-ATP6 missense Patient with suspected mitochondrial disease Reported by paper as Benign References (3) Variant Details
84 8578 C A MT-ATP6 missense . . No References Variant Details
85 8584 G A MT-ATP6 missense . . References (43) Variant Details
86 8803 A G MT-ATP6 missense . . No References Variant Details
87 8812 A G MT-ATP6 missense Spinocerebellar ataxia Reported References (5) Variant Details
88 8860 A G MT-ATP6 missense . . References (124) Variant Details
89 8889 T C . . . . No References Variant Details
90 9913 A G MT-CO3 missense . . No References Variant Details
91 9917 - AAAGTGAT . . . . No References Variant Details
92 9945 G T MT-CO3 missense . . No References Variant Details
93 9950 T C . . . . No References Variant Details
94 10032 A T . . . . No References Variant Details
95 10035 T G . . . . No References Variant Details
96 10039 ACAAC - . . . . No References Variant Details
97 10047 C - . . . . No References Variant Details
98 10048 - TT . . . . No References Variant Details
99 10193 C G . . . . No References Variant Details
100 10196 C A . . . . No References Variant Details
101 10219 A G . . . . No References Variant Details
102 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
103 10875 T C MT-ND4 missense . . No References Variant Details
104 10911 G T MT-ND4 missense . . No References Variant Details
105 10934 G - . . . . No References Variant Details
106 10939 C A . . . . No References Variant Details
107 10940 C T . . . . No References Variant Details
108 10947 C A MT-ND4 missense . . No References Variant Details
109 11016 G A MT-ND4 missense . . References (17) Variant Details
110 11021 C A MT-ND4 missense . . No References Variant Details
111 11087 T C MT-ND4 missense . . References (2) Variant Details
112 11435 G T MT-ND4 missense . . No References Variant Details
113 11445 T A MT-ND4 missense . . No References Variant Details
114 11465 T C . . . . No References Variant Details
115 11553 - GA . . . . No References Variant Details
116 11554 - CCAG . . . . No References Variant Details
117 11556 T G MT-ND4 missense . . No References Variant Details
118 11581 CA - . . . . No References Variant Details
119 11693 G C MT-ND4 missense . . No References Variant Details
120 11719 G A . . . . No References Variant Details
121 11742 G A MT-ND4 missense . . No References Variant Details
122 12313 T C . . . . No References Variant Details
123 12337 A G MT-ND5 start_lost . . References (1) Variant Details
124 12390 C T . . . . No References Variant Details
125 12434 C T MT-ND5 missense . . No References Variant Details
126 12448 T C MT-ND5 missense . . No References Variant Details
127 13065 CTCAGCCCTACTCCACTCAAGCACTATAGTTGTAGCAGGAATCTTCTTA - . . . . No References Variant Details
128 13836 A G . . . . No References Variant Details
129 14055 C A . . . . No References Variant Details
130 14061 C A MT-ND5 missense . . No References Variant Details
131 14073 C A . . . . No References Variant Details
132 14082 C A . . . . No References Variant Details
133 14092 C A MT-ND5 missense . . No References Variant Details
134 14510 A G MT-ND6 missense . . No References Variant Details
135 14608 C G MT-ND6 missense . . No References Variant Details
136 14621 C G MT-ND6 missense . . No References Variant Details
137 14642 C T MT-ND6 missense . . No References Variant Details
138 14680 C T . . . . No References Variant Details
139 14687 ACT - . . . . No References Variant Details
140 14695 C A . . . . No References Variant Details
141 14752 C A . . . . No References Variant Details
142 14756 A G MT-CYB missense . . No References Variant Details
143 14766 C T MT-CYB missense . . References (113) Variant Details
144 14792 C A MT-CYB missense . . No References Variant Details
145 15235 A G . . . . No References Variant Details
146 15240 G A . . . . No References Variant Details
147 15320 CT - . . . . No References Variant Details
148 15326 A G MT-CYB missense . . References (116) Variant Details
149 15931 A T . . . . No References Variant Details
150 15940 T C . . . . No References Variant Details
151 15982 A T . . . . No References Variant Details
152 15984 T C . . . . No References Variant Details
153 16019 C A . . . . No References Variant Details
154 16140 T C . . . . No References Variant Details
155 16170 A C . . . . No References Variant Details
156 16171 A C . . . . No References Variant Details
157 16177 A C . . . . No References Variant Details
158 16180 AA - . . . . No References Variant Details
159 16182 A C . . . . No References Variant Details
160 16183 A C . . . . No References Variant Details
161 16189 T C . . . . No References Variant Details
162 16261 C T . . . . No References Variant Details
163 16266 C A . . . . No References Variant Details
164 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