| 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 | 152 | T | C | . | . | . | . | No References | Variant Details |
| 3 | 166 | C | T | . | . | . | . | No References | Variant Details |
| 4 | 210 | A | G | . | . | . | . | No References | Variant Details |
| 5 | 263 | A | G | . | . | . | . | No References | Variant Details |
| 6 | 264 | C | A | . | . | . | . | No References | Variant Details |
| 7 | 277 | C | A | . | . | . | . | No References | Variant Details |
| 8 | 302 | - | CC | . | . | . | . | No References | Variant Details |
| 9 | 310 | - | C | . | . | . | . | No References | Variant Details |
| 10 | 434 | C | G | . | . | . | . | No References | Variant Details |
| 11 | 435 | C | A | . | . | . | . | No References | Variant Details |
| 12 | 442 | T | G | . | . | . | . | No References | Variant Details |
| 13 | 456 | C | G | . | . | . | . | No References | Variant Details |
| 14 | 460 | T | G | . | . | . | . | No References | Variant Details |
| 15 | 470 | ATA | - | . | . | . | . | No References | Variant Details |
| 16 | 476 | - | GCG | . | . | . | . | No References | Variant Details |
| 17 | 477 | T | G | . | . | . | . | No References | Variant Details |
| 18 | 484 | A | C | . | . | . | . | No References | Variant Details |
| 19 | 492 | A | C | . | . | . | . | No References | Variant Details |
| 20 | 514 | CA | - | . | . | . | . | No References | Variant Details |
| 21 | 539 | T | A | . | . | . | . | No References | Variant Details |
| 22 | 550 | A | G | . | . | . | . | No References | Variant Details |
| 23 | 593 | T | G | . | . | . | . | No References | Variant Details |
| 24 | 605 | T | A | . | . | . | . | No References | Variant Details |
| 25 | 616 | T | A | . | . | . | . | No References | Variant Details |
| 26 | 617 | G | T | . | . | . | . | No References | Variant Details |
| 27 | 624 | C | A | . | . | . | . | No References | Variant Details |
| 28 | 629 | T | C | . | . | . | . | No References | Variant Details |
| 29 | 635 | C | A | . | . | . | . | No References | Variant Details |
| 30 | 639 | C | A | . | . | . | . | No References | Variant Details |
| 31 | 642 | T | A | . | . | . | . | No References | Variant Details |
| 32 | 698 | C | A | . | . | . | . | No References | Variant Details |
| 33 | 709 | G | A | . | . | . | . | No References | Variant Details |
| 34 | 750 | A | G | . | . | . | . | No References | Variant Details |
| 35 | 1062 | G | T | . | . | . | . | No References | Variant Details |
| 36 | 1063 | A | T | . | . | . | . | No References | Variant Details |
| 37 | 1067 | A | T | . | . | . | . | No References | Variant Details |
| 38 | 1069 | A | C | . | . | . | . | No References | Variant Details |
| 39 | 1438 | A | G | . | . | . | . | No References | Variant Details |
| 40 | 1660 | G | C | . | . | . | . | No References | Variant Details |
| 41 | 1723 | A | T | . | . | . | . | No References | Variant Details |
| 42 | 2449 | G | T | . | . | . | . | No References | Variant Details |
| 43 | 2504 | A | G | . | . | . | . | No References | Variant Details |
| 44 | 2574 | G | A | . | . | . | . | No References | Variant Details |
| 45 | 2609 | T | G | . | . | . | . | No References | Variant Details |
| 46 | 2694 | A | G | . | . | . | . | No References | Variant Details |
| 47 | 2706 | A | G | . | . | . | . | No References | Variant Details |
| 48 | 2725 | A | G | . | . | . | . | No References | Variant Details |
| 49 | 3172 | C | A | . | . | . | . | No References | Variant Details |
| 50 | 3215 | C | A | . | . | . | . | No References | Variant Details |
| 51 | 3322 | C | A | MT-ND1 | missense | . | . | No References | Variant Details |
| 52 | 3331 | C | T | MT-ND1 | missense | . | . | No References | Variant Details |
| 53 | 3425 | T | A | MT-ND1 | missense | . | . | No References | Variant Details |
| 54 | 3537 | A | G | . | . | . | . | No References | Variant Details |
| 55 | 3572 | T | G | MT-ND1 | missense | . | . | No References | Variant Details |
| 56 | 3878 | C | A | MT-ND1 | missense | . | . | No References | Variant Details |
| 57 | 4141 | C | A | . | . | . | . | No References | Variant Details |
| 58 | 4146 | C | A | MT-ND1 | missense | . | . | No References | Variant Details |
| 59 | 4147 | C | A | MT-ND1 | missense | . | . | No References | Variant Details |
| 60 | 4170 | C | A | . | . | . | . | No References | Variant Details |
| 61 | 4387 | C | A | . | . | . | . | No References | Variant Details |
| 62 | 4769 | A | G | . | . | . | . | No References | Variant Details |
| 63 | 5328 | C | G | MT-ND2 | missense | . | . | No References | Variant Details |
| 64 | 5346 | T | A | MT-ND2 | missense | . | . | No References | Variant Details |
| 65 | 5362 | A | C | MT-ND2 | missense | . | . | No References | Variant Details |
| 66 | 5364 | T | A | MT-ND2 | missense | . | . | No References | Variant Details |
| 67 | 5366 | C | G | . | . | . | . | No References | Variant Details |
| 68 | 5387 | C | T | . | . | . | . | No References | Variant Details |
| 69 | 5390 | A | C | MT-ND2 | missense | . | . | No References | Variant Details |
| 70 | 5393 | T | A | . | . | . | . | No References | Variant Details |
| 71 | 5395 | A | C | MT-ND2 | missense | . | . | No References | Variant Details |
| 72 | 5406 | A | G | MT-ND2 | missense | . | . | No References | Variant Details |
| 73 | 5435 | C | T | . | . | . | . | No References | Variant Details |
| 74 | 6383 | G | T | . | . | . | . | No References | Variant Details |
| 75 | 6385 | C | A | MT-CO1 | missense | . | . | No References | Variant Details |
| 76 | 6420 | C | - | . | . | . | . | No References | Variant Details |
| 77 | 6646 | T | G | MT-CO1 | missense | . | . | No References | Variant Details |
| 78 | 6654 | T | A | MT-CO1 | missense | . | . | No References | Variant Details |
| 79 | 6671 | T | G | MT-CO1 | missense | . | . | No References | Variant Details |
| 80 | 6672 | A | C | MT-CO1 | missense | . | . | No References | Variant Details |
| 81 | 6674 | T | G | MT-CO1 | missense | . | . | No References | Variant Details |
| 82 | 6808 | G | T | MT-CO1 | missense | . | . | No References | Variant Details |
| 83 | 6896 | T | C | . | . | . | . | No References | Variant Details |
| 84 | 6960 | C | T | . | . | . | . | No References | Variant Details |
| 85 | 7028 | C | T | . | . | . | . | No References | Variant Details |
| 86 | 7101 | T | A | MT-CO1 | missense | . | . | No References | Variant Details |
| 87 | 7104 | T | A | MT-CO1 | missense | . | . | No References | Variant Details |
| 88 | 7182 | C | T | MT-CO1 | missense | . | . | No References | Variant Details |
| 89 | 7412 | C | A | MT-CO1 | missense | . | . | No References | Variant Details |
| 90 | 7478 | G | A | . | . | . | . | No References | Variant Details |
| 91 | 7498 | G | T | . | . | . | . | No References | Variant Details |
| 92 | 7627 | C | T | . | . | . | . | No References | Variant Details |
| 93 | 7853 | G | C | MT-CO2 | missense | . | . | No References | Variant Details |
| 94 | 7895 | T | G | MT-CO2 | missense | . | . | No References | Variant Details |
| 95 | 7902 | G | T | MT-CO2 | missense | . | . | No References | Variant Details |
| 96 | 8028 | C | A | MT-CO2 | missense | . | . | No References | Variant Details |
| 97 | 8031 | C | A | MT-CO2 | missense | . | . | No References | Variant Details |
| 98 | 8032 | C | A | . | . | . | . | No References | Variant Details |
| 99 | 8035 | T | A | MT-CO2 | missense | . | . | No References | Variant Details |
| 100 | 8050 | A | T | . | . | . | . | No References | Variant Details |
| 101 | 8271 | ACCCCCTCT | - | . | . | . | . | No References | Variant Details |
| 102 | 8584 | G | A | MT-ATP6 | missense | . | . | References (43) | Variant Details |
| 103 | 8756 | T | A | MT-ATP6 | missense | . | . | No References | Variant Details |
| 104 | 8854 | G | C | MT-ATP6 | missense | . | . | No References | Variant Details |
| 105 | 8860 | A | G | MT-ATP6 | missense | . | . | References (124) | Variant Details |
| 106 | 8996 | C | T | MT-ATP6 | missense | . | . | No References | Variant Details |
| 107 | 9042 | C | G | MT-ATP6 | missense | . | . | No References | Variant Details |
| 108 | 9047 | T | G | MT-ATP6 | missense | . | . | No References | Variant Details |
| 109 | 9171 | A | C | . | . | . | . | No References | Variant Details |
| 110 | 9200 | A | G | MT-ATP6 | missense | . | . | No References | Variant Details |
| 111 | 9329 | G | A | . | . | . | . | No References | Variant Details |
| 112 | 9348 | C | G | MT-CO3 | missense | . | . | No References | Variant Details |
| 113 | 9383 | C | A | . | . | . | . | No References | Variant Details |
| 114 | 9424 | C | G | MT-CO3 | missense | . | . | No References | Variant Details |
| 115 | 9651 | C | A | MT-CO3 | missense | . | . | No References | Variant Details |
| 116 | 9942 | G | C | MT-CO3 | missense | . | . | No References | Variant Details |
| 117 | 9950 | T | C | . | . | . | . | No References | Variant Details |
| 118 | 10325 | G | A | . | . | . | . | No References | Variant Details |
| 119 | 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 |
| 120 | 10669 | C | T | MT-ND4L | missense | . | . | No References | Variant Details |
| 121 | 10947 | C | - | . | . | . | . | No References | Variant Details |
| 122 | 11310 | A | C | MT-ND4 | missense | . | . | No References | Variant Details |
| 123 | 11719 | G | A | . | . | . | . | No References | Variant Details |
| 124 | 11728 | C | A | . | . | . | . | No References | Variant Details |
| 125 | 11788 | C | A | MT-ND4 | missense | . | . | No References | Variant Details |
| 126 | 12019 | C | A | . | . | . | . | No References | Variant Details |
| 127 | 12039 | - | GACGAGGGTG | . | . | . | . | No References | Variant Details |
| 128 | 12531 | C | A | MT-ND5 | missense | . | . | No References | Variant Details |
| 129 | 12549 | C | G | . | . | . | . | No References | Variant Details |
| 130 | 12553 | A | T | MT-ND5 | missense | . | . | No References | Variant Details |
| 131 | 12815 | C | A | MT-ND5 | missense | . | . | No References | Variant Details |
| 132 | 12970 | C | A | MT-ND5 | missense | . | . | No References | Variant Details |
| 133 | 12992 | C | A | MT-ND5 | missense | . | . | No References | Variant Details |
| 134 | 12995 | C | A | MT-ND5 | missense | . | . | No References | Variant Details |
| 135 | 12997 | G | T | MT-ND5 | missense | . | . | No References | Variant Details |
| 136 | 13121 | G | T | MT-ND5 | missense | . | . | No References | Variant Details |
| 137 | 13146 | C | T | . | . | . | . | No References | Variant Details |
| 138 | 13288 | G | T | MT-ND5 | missense | . | . | No References | Variant Details |
| 139 | 13301 | C | A | MT-ND5 | missense | . | . | No References | Variant Details |
| 140 | 13305 | - | T | . | . | . | . | No References | Variant Details |
| 141 | 13306 | - | TCAGAGACCAGAGAGCAATAAAAATAGAAATCAACAA | . | . | . | . | No References | Variant Details |
| 142 | 13643 | G | A | MT-ND5 | missense | . | . | No References | Variant Details |
| 143 | 13741 | A | G | MT-ND5 | missense | . | . | References (2) | Variant Details |
| 144 | 13772 | A | C | MT-ND5 | missense | . | . | No References | Variant Details |
| 145 | 13807 | C | A | MT-ND5 | missense | . | . | No References | Variant Details |
| 146 | 13924 | C | A | MT-ND5 | missense | . | . | No References | Variant Details |
| 147 | 13978 | C | A | MT-ND5 | missense | . | . | No References | Variant Details |
| 148 | 14459 | G | A | MT-ND6 | missense | LDYT / Leigh Disease / dystonia / carotid atherosclerosis risk | Cfrm [P] | References (45) | Variant Details |
| 149 | 14559 | C | A | MT-ND6 | missense | . | . | No References | Variant Details |
| 150 | 14745 | C | A | . | . | . | . | No References | Variant Details |
| 151 | 14766 | C | T | MT-CYB | missense | . | . | References (113) | Variant Details |
| 152 | 14868 | T | C | MT-CYB | missense | . | . | No References | Variant Details |
| 153 | 15182 | A | T | MT-CYB | missense | . | . | No References | Variant Details |
| 154 | 15188 | A | C | MT-CYB | missense | . | . | No References | Variant Details |
| 155 | 15199 | C | A | . | . | . | . | No References | Variant Details |
| 156 | 15235 | A | G | . | . | . | . | No References | Variant Details |
| 157 | 15260 | A | C | MT-CYB | missense | . | . | No References | Variant Details |
| 158 | 15270 | T | G | MT-CYB | missense | . | . | No References | Variant Details |
| 159 | 15326 | A | G | MT-CYB | missense | . | . | References (116) | Variant Details |
| 160 | 15331 | C | A | . | . | . | . | No References | Variant Details |
| 161 | 15353 | A | G | MT-CYB | missense | . | . | References (1) | Variant Details |
| 162 | 15439 | C | T | . | . | . | . | No References | Variant Details |
| 163 | 15557 | G | T | . | . | . | . | No References | Variant Details |
| 164 | 15608 | C | A | MT-CYB | missense | . | . | No References | Variant Details |
| 165 | 15957 | C | A | . | . | . | . | No References | Variant Details |
| 166 | 16140 | T | C | . | . | . | . | No References | Variant Details |
| 167 | 16170 | AATCCACATCA | - | . | . | . | . | No References | Variant Details |
| 168 | 16170 | A | C | . | . | . | . | No References | Variant Details |
| 169 | 16171 | A | C | . | . | . | . | No References | Variant Details |
| 170 | 16175 | A | G | . | . | . | . | No References | Variant Details |
| 171 | 16177 | A | C | . | . | . | . | No References | Variant Details |
| 172 | 16180 | AA | - | . | . | . | . | No References | Variant Details |
| 173 | 16182 | A | C | . | . | . | . | No References | Variant Details |
| 174 | 16183 | A | G | . | . | . | . | No References | Variant Details |
| 175 | 16189 | T | C | . | . | . | . | No References | Variant Details |
| 176 | 16266 | C | A | . | . | . | . | No References | Variant Details |
| 177 | 16314 | A | C | . | . | . | . | No References | Variant Details |
| 178 | 16316 | A | C | . | . | . | . | No References | Variant Details |
| 179 | 16322 | A | C | . | . | . | . | No References | Variant Details |
| 180 | 16425 | C | T | . | . | . | . | No References | Variant Details |
| 181 | 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 |