| 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 | 263 | A | G | . | . | . | . | No References | Variant Details |
| 3 | 302 | - | C | . | . | . | . | No References | Variant Details |
| 4 | 310 | - | C | . | . | . | . | No References | Variant Details |
| 5 | 349 | C | T | . | . | . | . | No References | Variant Details |
| 6 | 489 | T | C | . | . | . | . | No References | Variant Details |
| 7 | 513 | G | T | . | . | . | . | No References | Variant Details |
| 8 | 750 | A | G | . | . | . | . | No References | Variant Details |
| 9 | 785 | C | A | . | . | . | . | No References | Variant Details |
| 10 | 1191 | C | A | . | . | . | . | No References | Variant Details |
| 11 | 1269 | T | C | . | . | . | . | No References | Variant Details |
| 12 | 1428 | G | A | . | . | . | . | No References | Variant Details |
| 13 | 1438 | A | G | . | . | . | . | No References | Variant Details |
| 14 | 1584 | A | G | . | . | . | . | No References | Variant Details |
| 15 | 1872 | T | C | . | . | . | . | No References | Variant Details |
| 16 | 2132 | A | G | . | . | . | . | No References | Variant Details |
| 17 | 2183 | C | A | . | . | . | . | No References | Variant Details |
| 18 | 2219 | C | A | . | . | . | . | No References | Variant Details |
| 19 | 2477 | G | T | . | . | . | . | No References | Variant Details |
| 20 | 2538 | C | A | . | . | . | . | No References | Variant Details |
| 21 | 2702 | G | A | . | . | . | . | No References | Variant Details |
| 22 | 2706 | A | G | . | . | . | . | No References | Variant Details |
| 23 | 3243 | A | G | . | . | . | . | No References | Variant Details |
| 24 | 3279 | C | G | . | . | . | . | No References | Variant Details |
| 25 | 3533 | C | G | MT-ND1 | missense | . | . | No References | Variant Details |
| 26 | 4272 | T | A | . | . | . | . | No References | Variant Details |
| 27 | 4307 | A | C | . | . | . | . | No References | Variant Details |
| 28 | 4769 | A | G | . | . | . | . | No References | Variant Details |
| 29 | 4920 | G | C | MT-ND2 | missense | . | . | No References | Variant Details |
| 30 | 5153 | A | G | . | . | . | . | No References | Variant Details |
| 31 | 5217 | T | C | MT-ND2 | missense | . | . | No References | Variant Details |
| 32 | 5295 | C | A | MT-ND2 | missense | . | . | No References | Variant Details |
| 33 | 5297 | C | T | . | . | . | . | No References | Variant Details |
| 34 | 6117 | C | G | MT-CO1 | missense | . | . | No References | Variant Details |
| 35 | 6169 | C | T | MT-CO1 | missense | . | . | No References | Variant Details |
| 36 | 6233 | A | G | . | . | . | . | No References | Variant Details |
| 37 | 6541 | G | A | MT-CO1 | missense | . | . | No References | Variant Details |
| 38 | 7028 | C | T | . | . | . | . | No References | Variant Details |
| 39 | 7046 | A | G | . | . | . | . | No References | Variant Details |
| 40 | 7247 | C | A | . | . | . | . | No References | Variant Details |
| 41 | 7257 | A | G | MT-CO1 | missense | . | . | No References | Variant Details |
| 42 | 7342 | G | A | MT-CO1 | missense | . | . | No References | Variant Details |
| 43 | 7370 | C | T | . | . | . | . | No References | Variant Details |
| 44 | 8700 | A | G | . | . | . | . | No References | Variant Details |
| 45 | 8701 | A | G | MT-ATP6 | missense | . | . | References (102) | Variant Details |
| 46 | 8854 | G | A | MT-ATP6 | missense | . | . | References (3) | Variant Details |
| 47 | 8860 | A | G | MT-ATP6 | missense | . | . | References (124) | Variant Details |
| 48 | 9024 | A | T | . | . | . | . | No References | Variant Details |
| 49 | 9103 | T | A | MT-ATP6 | missense | . | . | No References | Variant Details |
| 50 | 9144 | C | A | . | . | . | . | No References | Variant Details |
| 51 | 9345 | C | T | . | . | . | . | No References | Variant Details |
| 52 | 9540 | T | C | . | . | . | . | No References | Variant Details |
| 53 | 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 |
| 54 | 10400 | C | T | . | . | . | . | No References | Variant Details |
| 55 | 10873 | T | C | . | . | . | . | No References | Variant Details |
| 56 | 11151 | C | T | MT-ND4 | missense | . | . | References (19) | Variant Details |
| 57 | 11455 | C | A | . | . | . | . | No References | Variant Details |
| 58 | 11562 | G | T | MT-ND4 | missense | . | . | No References | Variant Details |
| 59 | 11719 | G | A | . | . | . | . | No References | Variant Details |
| 60 | 11852 | G | A | MT-ND4 | missense | . | . | No References | Variant Details |
| 61 | 12530 | A | G | MT-ND5 | missense | . | . | References (1) | Variant Details |
| 62 | 12705 | C | T | . | . | . | . | No References | Variant Details |
| 63 | 12753 | A | G | . | . | . | . | No References | Variant Details |
| 64 | 12764 | G | A | MT-ND5 | missense | . | . | No References | Variant Details |
| 65 | 12797 | T | A | MT-ND5 | missense | . | . | No References | Variant Details |
| 66 | 12997 | G | T | MT-ND5 | missense | . | . | No References | Variant Details |
| 67 | 13042 | G | T | MT-ND5 | missense | . | . | No References | Variant Details |
| 68 | 13433 | T | C | MT-ND5 | missense | . | . | No References | Variant Details |
| 69 | 13615 | A | G | MT-ND5 | missense | LHON | Reported | References (1) | Variant Details |
| 70 | 13787 | T | C | MT-ND5 | missense | . | . | No References | Variant Details |
| 71 | 13860 | C | A | . | . | . | . | No References | Variant Details |
| 72 | 14037 | A | G | . | . | . | . | No References | Variant Details |
| 73 | 14233 | A | G | . | . | . | . | No References | Variant Details |
| 74 | 14766 | C | T | MT-CYB | missense | . | . | References (113) | Variant Details |
| 75 | 14783 | T | C | . | . | . | . | No References | Variant Details |
| 76 | 15002 | G | T | MT-CYB | missense | . | . | No References | Variant Details |
| 77 | 15008 | T | C | MT-CYB | missense | . | . | No References | Variant Details |
| 78 | 15024 | G | A | MT-CYB | missense | Possible DEAF modifier | Reported | References (3) | Variant Details |
| 79 | 15043 | G | A | . | . | . | . | No References | Variant Details |
| 80 | 15301 | G | A | . | . | . | . | No References | Variant Details |
| 81 | 15315 | C | T | MT-CYB | missense | . | . | References (2) | Variant Details |
| 82 | 15319 | C | A | . | . | . | . | No References | Variant Details |
| 83 | 15326 | A | G | MT-CYB | missense | . | . | References (116) | Variant Details |
| 84 | 15346 | G | T | MT-CYB | missense | . | . | No References | Variant Details |
| 85 | 15588 | T | C | MT-CYB | missense | . | . | No References | Variant Details |
| 86 | 15591 | G | A | MT-CYB | missense | . | . | No References | Variant Details |
| 87 | 15644 | A | G | MT-CYB | missense | . | . | References (2) | Variant Details |
| 88 | 15776 | A | G | MT-CYB | missense | . | . | References (2) | Variant Details |
| 89 | 15804 | T | C | MT-CYB | missense | Fibromyalgia | Reported | References (5) | Variant Details |
| 90 | 15820 | C | T | . | . | . | . | No References | Variant Details |
| 91 | 15932 | T | C | . | . | . | . | No References | Variant Details |
| 92 | 16016 | A | G | . | . | . | . | No References | Variant Details |
| 93 | 16108 | C | A | . | . | . | . | No References | Variant Details |
| 94 | 16127 | A | G | . | . | . | . | No References | Variant Details |
| 95 | 16162 | A | - | . | . | . | . | No References | Variant Details |
| 96 | 16214 | C | T | . | . | . | . | No References | Variant Details |
| 97 | 16218 | C | T | . | . | . | . | No References | Variant Details |
| 98 | 16223 | C | T | . | . | . | . | No References | Variant Details |
| 99 | 16230 | A | G | . | . | . | . | No References | Variant Details |
| 100 | 16249 | T | C | . | . | . | . | No References | Variant Details |
| 101 | 16257 | - | A | . | . | . | . | No References | Variant Details |
| 102 | 16264 | C | - | . | . | . | . | No References | Variant Details |
| 103 | 16274 | G | A | . | . | . | . | No References | Variant Details |
| 104 | 16278 | C | T | . | . | . | . | No References | Variant Details |
| 105 | 16284 | A | G | . | . | . | . | No References | Variant Details |
| 106 | 16288 | T | C | . | . | . | . | No References | Variant Details |
| 107 | 16290 | C | T | . | . | . | . | No References | Variant Details |
| 108 | 16293 | A | C | . | . | . | . | No References | Variant Details |
| 109 | 16301 | C | T | . | . | . | . | No References | Variant Details |
| 110 | 16311 | T | C | . | . | . | . | No References | Variant Details |
| 111 | 16355 | C | T | . | . | . | . | No References | Variant Details |
| 112 | 16356 | T | C | . | . | . | . | No References | Variant Details |
| 113 | 16368 | T | C | . | . | . | . | No References | Variant Details |
| 114 | 16369 | G | T | . | . | . | . | No References | Variant Details |
| 115 | 16390 | G | A | . | . | . | . | No References | Variant Details |
| 116 | 16399 | A | G | . | . | . | . | No References | Variant Details |
| 117 | 16444 | C | T | . | . | . | . | No References | Variant Details |
| 118 | 16496 | G | A | . | . | . | . | No References | Variant Details |
| 119 | 16519 | T | C | . | . | . | . | No References | Variant Details |
| 120 | 16527 | C | T | . | . | . | . | No References | Variant Details |
| No. | Position | Ref | Alt | Gene Symbol | Functional Effect | MITOMAP Disease Clinical Information | MITOMAP Disease Clinical Status | References | Details |