| Locus | Nucleotide Position | Nucleotide Change | Amino Acid Change | Homo- plasmy | Hetero- Plasmy | Cell or Tissue type | Note | References |
|---|---|---|---|---|---|---|---|---|
| MT-DLOOP | 32 | A-G | noncod | - | + | POLG/PEO patient | . | references |
| MT-DLOOP | 45 | A-G | noncod | - | + | control skeletal muscle | . | references |
| MT-DLOOP | 46 | T-C | noncod | - | + | control skeletal muscle | . | references |
| MT-DLOOP | 52 | T-C | noncod | + | - | ovarian tumor | . | references |
| MT-DLOOP | 55 | T-C | noncod | - | + | control skeletal muscle | . | references |
| MT-DLOOP | 59 | T-C | noncod | - | + | control skeletal muscle | . | references |
| MT-DLOOP | 62 | G-C | noncod | - | + | aging brains | . | references |
| MT-DLOOP | 64 | C-A | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 64 | C-T | noncod | - | + | aging brains | . | references |
| MT-DLOOP | 66 | G-A | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 67 | G-A | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 72 | T-C | noncod | - | + | aging brains, POLG/PEO & control muscle | . | references |
| MT-DLOOP | 73 | A-G | noncod | + | + | aging brains, POLG/PEO & control muscle, thyroid tumor | . | references |
| MT-DLOOP | 74 | T-A | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 74 | T-G | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 80 | C-A | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 84 | A-G | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 91 | C-T | noncod | - | + | control skeletal muscle | . | references |
| MT-DLOOP | 92 | G-A | noncod | - | + | aging brains | . | references |
| MT-DLOOP | 97 | G-A | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 98 | C-del | noncod | + | - | thyroid tumor | . | references |
| MT-DLOOP | 100 | G-A | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 107 | G-del | noncod | + | - | thyroid tumor | . | references |
| MT-DLOOP | 112 | C-T | noncod | - | + | control skeletal muscle | . | references |
| MT-DLOOP | 114 | C-T | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 115 | T-C | noncod | + | - | thyroid tumor | . | references |
| MT-DLOOP | 117 | T-C | noncod | - | + | control skeletal muscle | . | references |
| MT-DLOOP | 121 | G-A | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 122 | C-T | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 124 | G-A | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 125 | T-C | noncod | - | + | POLG/PEO & control muscle | . | references |
| MT-DLOOP | 137 | A-G | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 146 | T-C | noncod | - | + | elderly fibroblasts, aging/AD brains, POLG/PEO & control muscle, prostate tumor | . | references |
| MT-DLOOP | 146 | T-C | noncod | + | - | ovarian carcinoma | . | references |
| MT-DLOOP | 148 | A-G | noncod | - | + | control skeletal muscle | . | references |
| MT-DLOOP | 150 | C-T | noncod | + | + | elderly fibroblasts, leukocytes, lung-cancer cells, thyroid tumor | . | references |
| MT-DLOOP | 152 | T-C | noncod | - | + | aging brains,elderly fibroblasts | . | references |
| MT-DLOOP | 152 | T-C | noncod | + | - | ovarian carcinoma | . | references |
| MT-DLOOP | 159 | T-A | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 162 | C-G | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 168 | T-C | noncod | - | + | control skeletal muscle | . | references |
| MT-DLOOP | 174 | C-T | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 178 | A-G | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 180 | T-C | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 182 | C-T | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 183 | A-G | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 185 | G-A | noncod | + | + | POLG/PEO muscle, thyroid tumor | . | references |
| MT-DLOOP | 185 | G-C | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 186 | C-T | noncod | - | + | POLG/PEO & MNGIE muscle | . | references |
| MT-DLOOP | 187 | G-A | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 188 | A-C | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 189 | A-G | noncod | - | + | elderly muscle & brains, POLG/PEO muscle & fibroblasts, various tumors | . | references |
| MT-DLOOP | 190 | C-CA | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 190 | C-T | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 191 | A-G | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 192 | T-del | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 192 | T-A | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 194 | C-T | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 195 | T-C | noncod | + | + | elderly fibroblasts, lung-cancer cells, aging/AD brains, thyroid tumor | . | references |
| MT-DLOOP | 199 | T-C | noncod | + | - | ovarian carcinoma | . | references |
| MT-DLOOP | 199 | T-C | noncod | - | + | POLG/MNGIE muscle | . | references |
| MT-DLOOP | 202 | A-G | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 203 | G-GT | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 204 | T-C | noncod | - | + | various tumors | . | references |
| MT-DLOOP | 204 | T-G | noncod | + | - | LHON fibroblasts | . | references |
| MT-DLOOP | 205 | G-A | noncod | + | - | gastric carcinoma | . | references |
| MT-DLOOP | 206 | T-C | noncod | - | + | POLG/PEO & POLG/MNGIE muscle | . | references |
| MT-DLOOP | 207 | G-A | noncod | + | + | oral cancer, prostate tumor, thyroid tumor | . | references |
| MT-DLOOP | 209 | T-G | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 211 | A-C | noncod | - | + | POLG/MNGIE muscle | . | references |
| MT-DLOOP | 211 | A-G | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 213 | T-C | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 214 | A-T | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 215 | A-C | noncod | - | + | control skeletal muscle | . | references |
| MT-DLOOP | 215 | A-G | noncod | + | - | esophageal cancer | . | references |
| MT-DLOOP | 223 | T-C | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 229 | G-A | noncod | - | + | control skeletal muscle | . | references |
| MT-DLOOP | 235 | A-G | noncod | + | - | prostate tumor | . | references |
| MT-DLOOP | 239 | T-C | noncod | - | + | POLG/PEO muscle, ovarian tumor | . | references |
| MT-DLOOP | 240 | A-G | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 242 | C-T | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 244 | A-C | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 249 | A-del | noncod | + | - | ovarian control tissue | . | references |
| MT-DLOOP | 249 | A-G | noncod | - | + | elderly fibroblasts, POLG/PEO muscle | . | references |
| MT-DLOOP | 251 | G-A | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 253 | C-A | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 253 | C-T | noncod | - | + | POLG/PEO & control muscle | . | references |
| MT-DLOOP | 254 | T-A | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 260 | G-C | noncod | - | + | POLG/MNGIE muscle | . | references |
| MT-DLOOP | 261 | C-G | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 262 | C-T | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 263 | A-G | noncod | - | + | POLG/MNGIE muscle | . | references |
| MT-DLOOP | 266 | T-G | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 270 | A-T | noncod | - | + | elderly Down's Syndrome fibroblasts | . | references |
| MT-DLOOP | 273 | C-T | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 277 | C-T | noncod | - | + | control skeletal muscle | . | references |
| MT-DLOOP | 285 | C-T | noncod | - | + | elderly fibroblasts | . | references |
| MT-DLOOP | 290 | AA-TT | noncod | - | + | MNGIE fibroblasts | . | references |
| MT-DLOOP | 291 | A-del | noncod | - | + | MNGIE fibroblasts | . | references |
| MT-DLOOP | 291 | A-G | noncod | - | + | POLG/PEO & control muscle, MNGIE fibroblasts | . | references |
| MT-DLOOP | 291 | A-T | noncod | - | + | MNGIE fibroblasts | . | references |
| MT-DLOOP | 292 | T-C | noncod | - | + | POLG/PEO muscle, MNGIE fibroblasts | . | references |
| MT-DLOOP | 295 | C-T | noncod | - | + | POLG/MNGIE muscle | . | references |
| MT-DLOOP | 297 | A-G | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 298 | C-G | noncod | - | + | control skeletal muscle | . | references |
| MT-DLOOP | 303:315 | C(7-8)TC(5) | noncod | + | + | multiple tumor types | highly variable C tract "D310" | references |
| MT-DLOOP | 303:493 | ~200 bp duplication- | noncod | - | + | aging muscle | . | references |
| MT-DLOOP | 303:568 | ~260 bp duplication & triplication- | noncod | - | + | multiple tumor types, aging muscle, myopathic muscle | . | references |
| MT-DLOOP | 309 | C-T | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 315 | C-T | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 317 | C-T | noncod | + | - | ovarian tumor | . | references |
| MT-DLOOP | 318 | T-C | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 320 | C-T | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 324 | C-G | noncod | - | + | POLG/MNGIE muscle | . | references |
| MT-DLOOP | 325 | C-T | noncod | + | - | thyroid tumor | . | references |
| MT-DLOOP | 333 | T-C | noncod | - | + | control skeletal muscle | . | references |
| MT-DLOOP | 334 | T-C | noncod | - | + | POLG/PEO muscle | . | references |
| MT-DLOOP | 335 | A-G | noncod | - | + | elderly Down's Syndrome fibroblasts | . | references |
| MT-DLOOP | 368 | A-G | noncod | - | + | elderly fibroblasts | . | references |
| MT-DLOOP | 375 | C-CC | noncod | + | - | colonic crypts | . | references |
| MT-DLOOP | 383 | T-TT | noncod | - | + | elderly fibroblasts | . | references |
| MT-DLOOP | 385 | A-G | noncod | - | + | Twinkle/PEO frontal cortex | . | references |
| MT-DLOOP | 386 | A-G | noncod | - | + | elderly fibroblasts | . | references |
| MT-DLOOP | 405 | T-del | noncod | - | + | Twinkle/PEO frontal cortex | . | references |
| MT-DLOOP | 408 | T-A | noncod | - | + | elderly muscle, POLG/PEO, Twinkle/PEO frontal cortex and muscle | . | references |
| MT-DLOOP | 410 | G-A | noncod | - | + | Twinkle/PEO eye muscle | . | references |
| MT-DLOOP | 412 | G-A | noncod | - | + | Twinkle/PEO eye muscle | . | references |
| MT-DLOOP | 414 | T-C | noncod | - | + | AD brains | . | references |
| MT-DLOOP | 414 | T-G | noncod | - | + | elderly fibroblasts, elderly muscle, POLG/PEO, Down's Syndrome, AD brains,oocytes | . | references |
| MT-DLOOP | 415 | A-G | noncod | - | + | Twinkle/PEO eye muscle | . | references |
| MT-DLOOP | 426 | A-G | noncod | - | + | elderly Down's Syndrome fibroblasts | . | references |
| MT-DLOOP | 429 | G-A | noncod | - | + | Twinkle/PEO eye muscle | . | references |
| MT-DLOOP | 456 | C-T | noncod | + | - | thyroid tumor | . | references |
| MT-DLOOP | 460 | T-A | noncod | - | + | elderly Down's Syndrome fibroblasts | . | references |
| MT-DLOOP | 460 | T-C | noncod | + | + | elderly Down's Syndrome fibroblasts, thyroid tumor | . | references |
| MT-DLOOP | 462 | C-T | noncod | + | - | thyroid tumor | . | references |
| MT-DLOOP | 466 | T-C | noncod | - | + | alcoholic fatty liver | . | references |
| MT-DLOOP | 477 | T-C | noncod | - | + | AD brains, ovarian tumor | . | references |
| MT-DLOOP | 481 | C-T | noncod | + | - | thyroid tumor | . | references |
| MT-DLOOP | 486 | C-T | noncod | - | + | elderly Down's Syndrome fibroblasts | . | references |
| MT-DLOOP | 489 | T-C | noncod | + | - | ovarian carcinoma | . | references |
| MT-DLOOP | 497 | C-T | noncod | + | - | thyroid tumor | . | references |
| MT-DLOOP | 499 | G-A | noncod | + | - | thyroid tumor | . | references |
| MT-DLOOP | 507 | T-A | noncod | - | + | Twinkle/PEO skeletal muscle | . | references |
| MT-DLOOP | 514:523 | (CA)(5-7) | noncod | + | + | ovarian carcinoma & control tissue, thyroid tumors | variable CA repeat region | references |
| MT-DLOOP | 523:524 | AC-del | noncod | - | + | Twinkle/PEO eye muscle | . | references |
| MT-DLOOP | 538 | A-G | noncod | - | + | Twinkle/PEO skeletal muscle | . | references |
| MT-DLOOP | 540 | A-G | noncod | - | + | Twinkle/PEO skeletal & eye muscle | . | references |
| MT-DLOOP | 549 | C-T | noncod | + | - | thyroid tumor | . | references |
| MT-DLOOP | 556 | A-G | noncod | - | + | Twinkle/PEO eye muscle | . | references |
| MT-DLOOP | 559 | C-T | noncod | - | + | Twinkle/PEO skeletal muscle | . | references |
| MT-DLOOP | 564 | G-A | noncod | - | + | colonic crypts | . | references |
| MT-DLOOP | 564 | G-A | noncod | - | + | Twinkle/PEO skeletal & eye muscle | . | references |
| MT-DLOOP | 567 | A-AC | noncod | - | + | Twinkle/PEO frontal cortex | . | references |
| MT-DLOOP | 568 | C(6)-C(8) | noncod | + | - | multiple tumor types | . | references |
| MT-TF:MT-TM | 584:4442 | 3857 bp del | multiple | - | + | elderly muscle | 3857-bp 'HSP' deletion | references |
| MT-TF | 586 | G-A | noncod | - | + | colonic crypts | . | references |
| MT-TF | 616 | T-C | noncod | - | + | MNGIE fibroblasts | . | references |
| MT-RNR1 | 664 | G-A | noncod | + | - | ovarian carcinoma | . | references |
| MT-RNR1 | 687 | G-A | noncod | + | - | pancreatic cancer cell line | . | references |
| MT-RNR1 | 710 | T-C | noncod | + | - | colorectal tumor | . | references |
| MT-RNR1 | 879 | T-C | noncod | - | + | colonic crypts | . | references |
| MT-RNR1 | 943 | G-A | noncod | + | - | colonic crypts | . | references |
| MT-RNR1 | 1040 | C-T | noncod | . | . | MNGIE fibroblasts | . | references |
| MT-RNR1 | 1097 | G-A | noncod | + | - | colonic crypts | . | references |
| MT-RNR1 | 1243 | T-C | noncod | + | - | pancreatic cancer cell line | . | references |
| MT-RNR1 | 1289 | G-C | noncod | + | - | colonic crypts | . | references |
| MT-RNR1 | 1401 | G-A | noncod | + | - | ovarian carcinoma | . | references |
| MT-RNR1 | 1406 | T-C | noncod | + | - | pancreatic cancer cell line | . | references |
| MT-RNR1 | 1586 | G-A | noncod | - | + | colonic crypts | . | references |
| MT-RNR2 | 1676 | A-G | noncod | + | - | pancreatic cancer cell line | . | references |
| MT-RNR2 | 1721 | C-T | noncod | + | + | acute leukemia platelets, leukocytes & bone marrow | Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. | references |
| MT-RNR2 | 1738 | T-C | noncod | + | - | colorectal tumor | . | references |
| MT-RNR2 | 1831 | G-A | noncod | - | + | colonic crypts | . | references |
| MT-RNR2 | 1952 | T-C | noncod | + | - | ovarian carcinoma | . | references |
| MT-RNR2 | 1967 | T-C | noncod | - | + | colorectal tumor | . | references |
| MT-RNR2 | 2015 | G-A | noncod | + | - | pancreatic cancer cell line | . | references |
| MT-RNR2 | 2056 | G-A | noncod | + | + | acute leukemia platelets, leukocytes & bone marrow | Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. | references |
| MT-RNR2 | 2222 | T-C | noncod | + | - | pancreatic cancer cell line | . | references |
| MT-RNR2 | 2233 | T-A | noncod | . | . | MNGIE fibroblasts | references | |
| MT-RNR2 | 2275 | T-C | noncod | - | + | colonic crypts | . | references |
| MT-RNR2 | 2299 | T-A | noncod | - | + | colorectal tumor | . | references |
| MT-RNR2 | 2643 | G-C | noncod | - | + | colonic crypts | . | references |
| MT-RNR2 | 2805 | A-T | noncod | + | - | pancreatic cancer cell line xenograf, MNGIE fibroblasts | . | references |
| MT-RNR2 | 2815 | G-A | noncod | - | + | colonic crypts | . | references |
| MT-RNR2 | 2905 | A-G | noncod | + | - | pancreatic cancer cell line | . | references |
| MT-RNR2 | 2916 | G-A | noncod | - | + | colonic crypts | . | references |
| MT-RNR2 | 2923 | G-A | noncod | + | - | prostate tumor | . | references |
| MT-RNR2 | 2998 | C-CT | noncod | + | - | lung tumor | . | references |
| MT-RNR2 | 3014 | G-A | noncod | + | - | colonic crypts | . | references |
| MT-RNR2 | 3094 | G-A | noncod | - | + | colonic crypts | . | references |
| MT-TL1 | 3232:3236 | TAAG-T | noncod | - | + | elderly muscle | 3-bp deletion | references |
| MT-TL1 | 3243 | A-G | noncod | + | + | elderly brain, elderly muscle, colon tumor | . | references |
| MT-TL1 | 3244 | G-A | noncod | + | + | gastric carcinoma, lung tumor | . | references |
| MT-ND1 | 3308 | T-C | M-T | + | - | colorectal tumor | . | references |
| MT-ND1 | 3323:3588 | 264 bp del | multiple | - | + | renal cell carcinoma | 264-bp deletion, alternate position 3326:3591 | references |
| MT-ND1 | 3357 | G-A | syn | + | - | prostate tumor | . | references |
| MT-ND1 | 3386 | T-C | I-T | - | + | MNGIE tissues | references | |
| MT-ND1 | 3394 | T-C | Y-H | + | + | acute leukemia platelets, leukocytes & bone marrow | Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. | references |
| MT-ND1 | 3421 | G-A | V-M | + | - | pancreatic cancer cell line | . | references |
| MT-ND1 | 3434 | A-G | Y-C | + | - | prostate tumor | . | references |
| MT-ND1 | 3480 | A-G | syn | + | - | prostate tumor | . | references |
| MT-ND1 | 3505 | A-G | T-A | + | - | pancreatic cancer cell line | . | references |
| MT-ND1 | 3526 | G-A | A-T | + | - | thyroid tumor | . | references |
| MT-ND1 | 3566:3571 | C(6)-C(7) | frameshift | + | - | colorectal tumor | . | references |
| MT-ND1 | 3594 | C-T | syn | + | - | thyroid tumor | . | references |
| MT-ND1 | 3653 | T-C | I-T | . | . | MNGIE fibroblasts | . | references |
| MT-ND1 | 3654 | C-T | syn | + | - | pancreatic cancer cell line | . | references |
| MT-ND1 | 3670 | G-A | A-T | + | - | pancreatic cancer cell line xenograft | . | references |
| MT-ND1 | 3910 | G-A | E-K | + | - | thyroid tumor | . | references |
| MT-ND1 | 3918 | G-A | syn | . | . | breast tumor | . | references |
| MT-ND1 | 3992 | C-T | T-M | + | - | thyroid tumor | . | references |
| MT-ND1 | 4028 | T-C | I-T | . | . | MNGIE fibroblasts | . | references |
| MT-ND1 | 4160 | T-A | L-H | . | . | MNGIE fibroblasts | . | references |
| MT-ND1 | 4216 | T-C | Y-H | + | + | acute leukemia platelets, leukocytes & bone marrow | Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. | references |
| MT-TI | 4312 | C-T | noncod | + | - | thyroid tumor | . | references |
| MT-TQ | 4370 | C-T | noncod | - | + | MNGIE fibroblasts | . | references |
| MT-TQ:MT-CYB | 4398:14822 | 10422 bp del | multiple | - | + | elderly muscle | 10422-bp deletion | references |
| MT-TQ | 4399 | T-C | noncod | + | - | colonic crypts | . | references |
| MT-TM | 4421 | G-A | noncod | - | + | elderly muscle | . | references |
| MT-TM | 4446 | G-A | noncod | - | + | colonic crypts | . | references |
| MT-TM | 4460 | T-C | noncod | - | + | elderly muscle | . | references |
| MT-ND2 | 4550 | T-C | syn | + | - | colonic crypts | . | references |
| MT-ND2 | 4580 | G-A | syn | + | - | pancreatic cancer cell line | . | references |
| MT-ND2 | 4613 | A-G | syn | + | - | thyroid tumor | . | references |
| MT-ND2 | 4788 | G-A | G-Ter | - | + | colonic crypts | . | references |
| MT-ND2 | 4811 | A-G | syn | + | - | pancreatic cancer cell line | . | references |
| MT-ND2 | 4940 | C-T | syn | + | - | thyroid tumor | . | references |
| MT-ND2 | 4985 | A-G | syn | + | - | thyroid tumor | . | references |
| MT-ND2 | 4986 | A-C | T-P | - | + | oral cancer | . | references |
| MT-ND2 | 4986 | A-G | T-A | - | + | colonic crypts | . | references |
| MT-ND2 | 5026 | A-G | H-R | - | + | oral cancer | . | references |
| MT-ND2 | 5132:5134 | AAA-A | frameshift | + | - | skeletal muscle - myopathy | . | references |
| MT-ND2 | 5140 | G-A | S-N | + | - | colonic crypts | . | references |
| MT-ND2 | 5164 | G-A | R-H | - | + | colonic crypts | . | references |
| MT-ND2 | 5231 | G-A | syn | + | - | endometrium control tissue | Normal in paired tumor tissue | references |
| MT-ND2 | 5298 | A-G | I-V | + | - | papillary thyroid carcinoma | . | references |
| MT-ND2 | 5408 | A-del | frameshift | + | - | papillary thyroid carcinoma | . | references |
| MT-TW | 5517 | T-C | noncod | . | . | MNGIE fibroblasts | . | references |
| MT-TA | 5628 | T-A | noncod | . | . | MNGIE tissues | . | references |
| MT-TA | 5628 | T-C | noncod | . | . | MNGIE fibroblasts | . | references |
| MT-TA | 5633 | C-T | noncod | + | - | thyroid tumor | . | references |
| MT-TC:MT-DLOOP | 5788:16071 | 10282 bp del | multiple | - | + | elderly muscle | 10282-bp deletion | references |
| MT-TC | 5814 | T-C | noncod | - | + | MNGIE tissues | . | references |
| MT-TY | 5843 | A-G | noncod | + | + | acute leukemia platelets, leukocytes & bone marrow | Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. | references |
| MT-TY | 5885 | T-del | noncod | - | + | CPEO muscle | single nucleotide deletion | references |
| MTNC5 | 5892 | T-C | noncod | + | - | colonic crypts | . | references |
| MT-CO1 | 5918 | T-C | syn | + | - | pancreatic cancer cell line | . | references |
| MT-CO1 | 5920 | G-A | W-Ter | + | - | skeletal muscle - myopathy | . | references |
| MT-CO1 | 5949 | G-A | G-Ter | - | + | prostate tumor | . | references |
| MT-CO1 | 5973 | G-A | A-T | + | - | pancreatic cancer cell line | . | references |
| MT-CO1 | 5999 | T-C | syn | + | - | pancreatic cancer cell line | . | references |
| MT-CO1 | 6047 | A-G | syn | + | - | pancreatic cancer cell line | . | references |
| MT-CO1 | 6124 | T-C | M-T | - | + | prostate tumor | . | references |
| MT-CO1 | 6146 | A-G | syn | + | - | pancreatic cancer cell line | . | references |
| MT-CO1:MT-DLOOP | 6173:16078 | 9904 bp del | multiple | - | + | elderly muscle | 9904-bp deletion | references |
| MT-CO1 | 6264 | G-A | G-Ter | + | - | colorectal tumor | . | references |
| MT-CO1 | 6267 | G-A | A-T | + | - | pancreatic cancer cell line | . | references |
| MT-CO1 | 6473 | C-T | syn | + | - | thyroid tumor | . | references |
| MT-CO1 | 6650 | A-C | syn | + | - | thyroid tumor | . | references |
| MT-CO1 | 6698 | A-del | frameshift | + | - | colonic crypts | . | references |
| MT-CO1 | 6721 | T-C | M-T | - | + | bone marrow, whole blood, platelets, granulocytes | AISA (acquired idiopathic sideroblastic anemia) patient | references |
| MT-CO1 | 6742 | T-C | I-T | - | + | bone marrow, whole blood, platelets, granulocytes | AISA patient | references |
| MT-CO1 | 6852 | G-A | G-S | - | - | colonic crypts | . | references |
| MT-CO1 | 6869 | C-T | syn | + | - | pancreatic cancer cell line | . | references |
| MT-CO1 | 6924 | C-T | A-S | - | + | prostate tumor | . | references |
| MT-CO1 | 6937 | T-C | I-T | + | - | colonic crypts | . | references |
| MT-CO1 | 7013 | G-A | syn | - | + | colonic crypts | . | references |
| MT-CO1 | 7053 | G-A | G-Ter | + | - | colonic crypts | . | references |
| MT-CO1 | 7055 | A-G | syn | . | . | MNGIE fibroblasts | . | references |
| MT-CO1 | 7065 | G-A | A-T | + | - | colonic crypts | . | references |
| MT-CO1 | 7090 | G-A | W-Ter | + | - | colonic crypts | . | references |
| MT-CO1 | 7103 | C-T | syn | + | - | thyroid tumor | . | references |
| MT-CO1 | 7151 | C-T | syn | + | - | pancreatic cancer cell line | . | references |
| MT-CO1 | 7440 | T-C | S-P | . | . | MNGIE fibroblasts | . | references |
| MT-TS1 | 7476 | C-T | noncod | + | - | thyroid hyperplasia | . | references |
| MT-TD | 7521 | G-A | noncod | + | - | thyroid tumor | . | references |
| MT-CO2 | 7627:8195 | [AGCT](569)- | stop codon | + | - | thyroid tumor | . | references |
| MT-CO2 | 7631:8203 | [AGCT](569)- | del 191 aa | + | - | thyroid tumor | . | references |
| MT-CO2 | 7775 | G-A | V-I | + | + | colonic crypts, thyroid tumor | . | references |
| MT-CO2 | 7785 | T-C | I-T | + | - | thyroid tumor | . | references |
| MT-CO2 | 7819 | C-A | syn | + | - | thyroid tumor | . | references |
| MT-CO2 | 7842:13904 | 6063 bp del | multiple | - | + | aging liver | 6063-bp deletion |