MITOMAP: mtDNA Somatic Mutations

Last Edited: Dec 14, 2017

Locus Nucleotide Position Nucleotide Change Amino Acid Change Homo-plasmy Hetero-Plasmy Cell or Tissue type Note References
1 G-C non-coding + - prostate tumor . 2
32 A-G non-coding - + POLG/PEO patient . 1
45 A-G non-coding - + control skeletal muscle . 1
46 T-C non-coding - + control skeletal muscle . 1
52 T-C non-coding + - ovarian tumor . 1
55 T-C non-coding - + control skeletal muscle . 1
59 T-C non-coding - + control skeletal muscle . 1
60 T-C non-coding - + normal tissues . 1
62 G-C non-coding - + aging brains . 1
64 C-A non-coding - + POLG/PEO muscle, normal tissues . 2
64 C-T non-coding - + aging brains . 2
66 G-del non-coding - + normal tissues . 1
66 G-A non-coding - + POLG/PEO muscle, normal tissues . 2
67 G-A non-coding - + POLG/PEO muscle, normal tissues . 2
72 T-C non-coding - + aging brains, POLG/PEO & control muscle, normal tissues . 4
73 A-G non-coding + + aging brains, POLG/PEO & control muscle, buccal cell, thyroid & prostate tumors . 7
74 G-A non-coding + - head/neck tumor . 1
74 T-A non-coding - + POLG/PEO muscle . 1
74 T-G non-coding - + POLG/PEO muscle . 2
80 C-A non-coding - + POLG/PEO muscle . 1
84 A-G non-coding - + POLG/PEO muscle . 1
91 C-T non-coding - + control skeletal muscle . 1
92 G-A non-coding - + aging brains . 1
94 G-A non-coding + - prostate tumor, normal tissues . 3
97 G-A non-coding - + POLG/PEO muscle . 1
98 C-del non-coding + - thyroid tumor . 1
100 G-A non-coding - + POLG/PEO muscle . 1
106 G-A non-coding + - prostate tumor . 2
107 G-del non-coding + - thyroid tumor . 1
112 C-T non-coding - + control skeletal muscle . 1
114 C-T non-coding - + POLG/PEO muscle, bladder tumor back-mutation . 3
115 T-C non-coding + - thyroid tumor . 2
117 T-C non-coding - + control skeletal muscle . 1
121 G-A non-coding - + POLG/PEO muscle . 1
122 C-T non-coding - + POLG/PEO muscle . 1
124 G-A non-coding - + POLG/PEO muscle . 1
125 T-C non-coding - + POLG/PEO & control muscle . 1
137 A-G non-coding - + POLG/PEO muscle . 1
146 T-C non-coding - + elderly fibroblasts, elderly/AD brains, POLG/PEO & control muscle, prostate tumor . 6
146 T-C non-coding + - ovarian carcinoma . 1
148 A-G non-coding - + control skeletal muscle . 1
150 C-T non-coding + + elderly fibroblasts/leukocytes, lung, thyroid, prostate tumors . 8
152 T-C non-coding + + elderly brains, elderly fibroblasts, ovarian carcinoma, breast tumor . 5
159 T-A non-coding - + POLG/PEO muscle . 1
162 C-G non-coding - + POLG/PEO muscle . 2
168 T-C non-coding - + control skeletal muscle . 1
174 C-T non-coding - + POLG/PEO muscle . 4
178 A-G non-coding - + POLG/PEO muscle . 1
180 T-C non-coding - + POLG/PEO muscle . 1
182 C-T non-coding - + POLG/PEO muscle . 2
183 A-G non-coding - + POLG/PEO muscle . 2
185 G-A non-coding + + POLG/PEO muscle, thyroid tumor, glioblastoma . 4
185 G-C non-coding - + POLG/PEO muscle . 1
186 C-T non-coding - + POLG/PEO & MNGIE muscle . 2
187 G-A non-coding - + POLG/PEO muscle . 1
188 A-C non-coding - + POLG/PEO muscle . 1
188 A-G non-coding - + breast tumor . 2
189 A-G non-coding - + elderly muscle & brains, myocyte, POLG/PEO muscle & fibroblasts, various tumors . 17
190 C-CA non-coding - + POLG/PEO muscle . 1
190 C-T non-coding - + POLG/PEO muscle . 1
191 A-G non-coding - + POLG/PEO muscle . 1
192 T-A non-coding - + POLG/PEO muscle . 1
192 T-del non-coding - + POLG/PEO muscle . 1
193 A-G non-coding + - endometrial tumor . 1
194 C-T non-coding - + POLG/PEO muscle . 1
195 T-C non-coding + + elderly fibroblasts, elderly/AD brains, tumors: lung, thyroid, ovarian, prostate, glioblastoma . 9
199 T-C non-coding + - ovarian carcinoma . 2
199 T-C non-coding - + POLG/MNGIE muscle . 1
202 A-G non-coding - + POLG/PEO muscle . 1
203 G-A non-coding + - breast tumor, normal tissues . 2
203 G-GT non-coding - + POLG/PEO muscle . 1
204 T-C non-coding + + various tumors . 6
204 T-G non-coding + - LHON fibroblasts . 2
205 G-A non-coding + - gastric carcinoma . 1
206 T-C non-coding - + POLG/PEO & POLG/MNGIE muscle, prostate tumor . 2
207 G-A non-coding + + oral, prostate & thyroid tumors . 5
209 T-G non-coding - + POLG/PEO muscle . 1
211 A-C non-coding - + POLG/MNGIE muscle . 1
211 A-G non-coding - + POLG/PEO muscle . 1
213 T-C non-coding - + POLG/PEO muscle . 1
214 A-G non-coding - + buccal cell . 1
214 A-T non-coding - + POLG/PEO muscle . 2
215 A-C non-coding - + control skeletal muscle . 1
215 A-G non-coding + - esophageal cancer . 1
223 T-C non-coding - + POLG/PEO muscle . 1
229 G-A non-coding - + control skeletal muscle . 1
235 A-G non-coding + - prostate tumor . 2
239 T-C non-coding - + POLG/PEO muscle, ovarian tumor . 2
240 A-G non-coding - + POLG/PEO muscle . 1
242 C-T non-coding - + POLG/PEO muscle . 1
244 A-C non-coding - + POLG/PEO muscle . 1
244 A-del non-coding + + prostate tumor . 2
249 A-del non-coding + - ovarian control tissue . 1
249 A-G non-coding - + elderly fibroblasts, POLG/PEO muscle . 3
251 G-A non-coding - + POLG/PEO muscle . 1
251 G-C non-coding - + buccal cell . 1
252 T-C non-coding - + buccal cell . 1
253 C-A non-coding - + POLG/PEO muscle . 1
253 C-T non-coding - + POLG/PEO & control muscle . 1
254 T-A non-coding - + POLG/PEO muscle . 1
260 G-C non-coding - + POLG/MNGIE muscle . 2
261 C-G non-coding - + POLG/PEO muscle, pituitary adenoma . 1
261 C-T non-coding . . Pituitary adenoma . 1
262 C-T non-coding - + POLG/PEO muscle . 1
263 A-G non-coding - + POLG/MNGIE muscle . 1
266 T-G non-coding - + POLG/PEO muscle . 1
270 A-T non-coding - + elderly Down's Syndrome fibroblasts . 1
273 C-T non-coding - + POLG/PEO muscle . 1
277 C-T non-coding - + control skeletal muscle . 1
285 C-T non-coding - + elderly fibroblasts . 2
290 AA-TT non-coding - + MNGIE fibroblasts . 1
291 A-del non-coding - + MNGIE fibroblasts . 1
291 A-G non-coding - + POLG/PEO & control muscle, MNGIE fibroblasts . 2
291 A-T non-coding - + MNGIE fibroblasts . 1
292 T-C non-coding - + POLG/PEO muscle, MNGIE fibroblasts . 2
295 C-T non-coding - + POLG/MNGIE muscle, glioblastoma . 3
297:348 50 bp deletion non-coding - + gastric cancer; healthy saliva, blood, & hair; elderly brains also reported as 306:357 2
297 A-G non-coding - + POLG/PEO muscle . 1
298 C-G non-coding - + control skeletal muscle . 1
303:493 ~200 bp duplication non-coding - + elderly muscle . 1
303:568 ~260 bp duplication & triplication non-coding - + multiple tumor types, aging muscle, myopathic muscle . 4
303:315 C(7-8)TC(5) non-coding + + D310 / multiple tumor types highly variable C tract "D310" 22
309 C-C(0 non-coding - + buccal cell, colonic crypt . 3
309 C-T non-coding - + POLG/PEO muscle . 1
310 T-C non-coding + + normal buccal swab . 2
310 T-del non-coding + - breast tumor . 1
313 C-T non-coding - + prostate tumor . 2
315 C-T non-coding + + POLG/PEO muscle, prostate tumor . 3
317 C-T non-coding + - ovarian tumor . 1
318 T-C non-coding - + POLG/PEO muscle . 1
320 C-T non-coding - + POLG/PEO muscle . 1
324 C-G non-coding - + POLG/MNGIE muscle . 1
325 C-T non-coding + - thyroid tumor . 2
333 T-C non-coding - + control skeletal muscle . 1
334 T-C non-coding - + POLG/PEO muscle . 1
335 A-G non-coding - + elderly Down's Syndrome fibroblasts . 1
368 A-G non-coding - + elderly fibroblasts . 2
375 C-CC non-coding + - colonic crypts . 1
383 T-TT non-coding - + elderly fibroblasts . 1
385 A-G non-coding + - Twinkle/PEO frontal cortex . 1
386 C-A non-coding - + bladder tumor . 2
396 A-G non-coding + - pituitary oncocytoma . 1
405 T-del non-coding - + Twinkle/PEO frontal cortex . 1
408 T-A non-coding - + elderly muscle, POLG/PEO, Twinkle/PEO frontal cortex and muscle, normal tissues . 10
410 G-A non-coding - + Twinkle/PEO eye muscle . 1
412 G-A non-coding - + Twinkle/PEO eye muscle . 1
414 T-C non-coding - + AD brains . 1
414 T-G non-coding - + elderly fibroblasts, elderly muscle, POLG/PEO, Down's Syndrome, AD brains,oocytes, normal tissues . 16
415 A-G non-coding - + Twinkle/PEO eye muscle . 1
426 A-G non-coding - + elderly Down's Syndrome fibroblasts . 1
429 G-A non-coding - + Twinkle/PEO eye muscle . 1
437 C-T non-coding . . prostate tumor . 1
456 C-T non-coding + - thyroid tumor . 2
460 T-A non-coding - + elderly Down's Syndrome fibroblasts . 1
460 T-C non-coding + + elderly Down's Syndrome fibroblasts, thyroid tumor . 3
462 C-T non-coding + - thyroid tumor . 2
466 T-C non-coding - + alcoholic fatty liver . 1
477 T-C non-coding - + AD brains, ovarian tumor . 2
481 C-T non-coding + - thyroid tumor . 2
486 C-T non-coding - + elderly Down's Syndrome fibroblasts . 1
487 A-G non-coding . . prostate tumor . 1
489 T-C non-coding + + ovarian carcinoma, prostate tumor . 3
497 C-T non-coding + - thyroid tumor . 2
499 G-A non-coding + - thyroid & prostate tumors . 3
507 T-A non-coding - + Twinkle/PEO skeletal muscle . 1
514:523 (CA)(5-7) non-coding + + ovarian carcinoma & control tissue, thyroid, prostate & breast tumors variable CA repeat region 5
514 C-CCG non-coding + - head/neck tumor . 1
516 C-T non-coding - + normal breast . 1
523:524 AC-del non-coding - + Twinkle/PEO eye muscle . 1
531 T-C non-coding . . ovarian tumor . 1
538 A-G non-coding - + Twinkle/PEO skeletal muscle . 1
540 A-G non-coding - + Twinkle/PEO skeletal & eye muscle . 1
549 C-T non-coding + - thyroid tumor . 2
556 A-G non-coding - + Twinkle/PEO eye muscle . 1
559 C-T non-coding + + Twinkle/PEO skeletal muscle, pituitary oncocytoma . 2
564 G-A non-coding - + colonic crypts . 1
564 G-A non-coding - + Twinkle/PEO skeletal muscle, pituitary oncocytoma, normal tissues . 3
565 A-G non-coding + - ovarian tumor . 1
567 A-AC non-coding - + Twinkle/PEO frontal cortex . 1
567 A-C non-coding - + ovarian tumor . 1
568 C(6)-C(8) non-coding + - multiple tumor types . 3
584:4442 MT-TF,MT-RNR1,MT-TV,MT-RNR2,MT-TL1,MT-ND1,MT-TI,MT-TQ,MT-TM (N)ins multiple - + elderly muscle 3857-bp 'HSP' deletion 1
586 MT-TF G-A non-coding + + colonic crypts, ovarian tumor . 2
616 MT-TF T-C non-coding - + MNGIE fibroblasts . 1
664 MT-RNR1 G-A non-coding + - ovarian carcinoma . 2
687 MT-RNR1 G-A non-coding + - pancreatic cancer cell line . 1
710 MT-RNR1 T-C non-coding + - colorectal tumor . 2
879 MT-RNR1 T-C non-coding - + colonic crypts . 1
943 MT-RNR1 G-A non-coding + - colonic crypts . 1
1040 MT-RNR1 C-T non-coding . . MNGIE fibroblasts . 1
1097 MT-RNR1 G-A non-coding + - colonic crypts . 1
1243 MT-RNR1 T-C non-coding + - pancreatic cancer cell line . 1
1289 MT-RNR1 G-C non-coding + - colonic crypts . 1
1320 MT-RNR1 G-A non-coding - + normal breast . 1
1401 MT-RNR1 G-A non-coding + - ovarian carcinoma . 2
1406 MT-RNR1 T-C non-coding + - pancreatic cancer cell line . 1
1474 MT-RNR1 G-A non-coding - + endometrial and ovarian tumors . 1
1586 MT-RNR1 G-A non-coding - + colonic crypts . 1
1676 MT-RNR2 A-G non-coding + - pancreatic cancer cell line . 1
1721 MT-RNR2 C-T non-coding + + acute leukemia platelets, leukocytes & bone marrow Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. 1
1738 MT-RNR2 T-C non-coding + - colorectal tumor . 2
1811 MT-RNR2 A-G non-coding + - head/neck tumor . 2
1831 MT-RNR2 G-A non-coding - + colonic crypts . 1
1952 MT-RNR2 T-C non-coding + - ovarian carcinoma . 2
1967 MT-RNR2 T-C non-coding - + colorectal tumor . 2
2015 MT-RNR2 G-A non-coding + - pancreatic cancer cell line . 1
2056 MT-RNR2 G-A non-coding + + bladder tumor, acute leukemia platelets/leukocytes/bone marrow Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. 3
2222 MT-RNR2 T-C non-coding + - pancreatic cancer cell line . 1
2233 MT-RNR2 T-A non-coding . . MNGIE fibroblasts . 1
2275 MT-RNR2 T-C non-coding - + colonic crypts . 1
2299 MT-RNR2 T-A non-coding - + colorectal tumor . 2
2445 MT-RNR2 T-C non-coding + - bladder tumor . 2
2643 MT-RNR2 G-C non-coding - + colonic crypts . 1
2664 MT-RNR2 T-C non-coding + - lung tumor . 2
2680 MT-RNR2 T-C non-coding - + endometrial and ovarian tumors . 1
2756 MT-RNR2 C-T non-coding . . Pituitary adenoma . 1
2805 MT-RNR2 A-T non-coding + - pancreatic cancer cell line xenograf, MNGIE fibroblasts . 2
2815 MT-RNR2 G-A non-coding - + colonic crypts . 1
2905 MT-RNR2 A-G non-coding + - pancreatic cancer cell line . 1
2916 MT-RNR2 G-A non-coding - + colonic crypts . 1
2923 MT-RNR2 G-A non-coding + - prostate tumor . 2
2998 MT-RNR2 C-CT non-coding + - lung tumor . 1
3014 MT-RNR2 G-A non-coding + - colonic crypts . 1
3054 MT-RNR2 G-A non-coding + - bladder tumor . 2
3094 MT-RNR2 G-A non-coding - + colonic crypts . 1
3232:3236 MT-TL1 TAAG-T non-coding - + elderly muscle 3-bp deletion 1
3242 MT-TL1 G-A non-coding nr nr elderly brain . 1
3243 MT-TL1 A-G non-coding + + elderly brain, elderly muscle, colon tumor, oncocytoma . 5
3244 MT-TL1 G-A non-coding + + elderly brain,gastric carcinoma, lung tumor, thyroid oncocytoma . 4
3308 MT-ND1 T-C M-T + - colorectal tumor . 2
3323:3588 MT-ND1 (N)ins multiple - + renal cell carcinoma 264-bp deletion, alternate position 3326:3591 1
3357 MT-ND1 G-A syn + - prostate tumor . 2
3386 MT-ND1 T-C I-T - + MNGIE tissues . 1
3394 MT-ND1 T-C Y-H + + acute leukemia platelets, leukocytes & bone marrow, various tumors Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. 2
3398 MT-ND1 T-C M-T + - colon cancer . 1
3421 MT-ND1 G-A V-M + - pancreatic cancer cell line . 1
3425 MT-ND1 T-C V-A - + endometrial tumor . 1
3434 MT-ND1 A-G Y-C + - prostate tumor . 2
3436 MT-ND1 G-A G-Ter - + head/neck tumor . 1
3470 MT-ND1 T-C L-P - + endometrial tumor . 1
3480 MT-ND1 A-G syn + - prostate tumor . 2
3487 MT-ND1 C-T syn . . pituitary oncocytoma . 1
3497 MT-ND1 C-T A-V + - adenocarcinoma, squamous cell carcinoma 1
3505 MT-ND1 A-G T-A + - pancreatic cancer cell line, prostate tumor . 3
3526 MT-ND1 G-A A-T + - thyroid tumor . 2
3566:3571 MT-ND1 C(6)-C(7) frameshift + - colorectal tumor, oncocytoma . 3
3571 MT-ND1 C-del frameshift + - oncocytoma . 1
3594 MT-ND1 C-T syn + - thyroid tumor . 2
3653 MT-ND1 T-C I-T . . MNGIE fibroblasts . 1
3654 MT-ND1 C-T syn + - pancreatic cancer cell line . 1
3670 MT-ND1 G-A A-T + - pancreatic cancer cell line xenograft / endometrial tumor . 2
3679 MT-ND1 T-C S-P - + head/neck tumor . 1
3689 MT-ND1 C-G A-G + + adenocarcinoma 1
3709 MT-ND1 G-A A-T + + adenocarcinoma 1
3730 MT-ND1 T-C Y-H - + endometrial tumor . 1
3910 MT-ND1 G-A E-K + - thyroid tumor . 2
3918 MT-ND1 G-A syn . . breast tumor . 2
3922 MT-ND1 G-A E-K + - head/neck tumor . 1
3931 MT-ND1 T-C S-P - + head/neck tumor . 1
3949 MT-ND1 T-C Y-H . . thyroid oncocytoma . 1
3951 MT-ND1 C-T syn . . pituitary oncocytoma . 1
3955 MT-ND1 G-A A-T + + adenocarcinoma 1
3992 MT-ND1 C-T T-M + - thyroid tumor . 2
4028 MT-ND1 T-C I-T . . MNGIE fibroblasts . 1
4160 MT-ND1 T-A L-H . . MNGIE fibroblasts . 1
4188 MT-ND1 A-G syn + - breast cyst . 1
4216 MT-ND1 T-C Y-H + + acute leukemia platelets, leukocytes & bone marrow Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. 1
4296 MT-TI G-A non-coding + - pituitary oncocytoma . 1
4309 MT-TI G-A non-coding . . thyroid oncocytoma . 1
4312 MT-TI C-T non-coding + - thyroid tumor . 2
4370 MT-TQ C-T non-coding - + MNGIE fibroblasts . 1
4398:14822 MT-TQ,MT-TM,MT-ND2,MT-TW,MT-TA,MT-TN,MT-TC,MT-TY,MT-CO1,MT-TS1,MT-TD,MT-CO2,MT-TK,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-CYB (N)ins multiple - + elderly muscle 10422-bp deletion 2
4399 MT-TQ T-C non-coding + - colonic crypts . 1
4421 MT-TM G-A non-coding - + elderly muscle . 1
4446 MT-TM G-A non-coding - + colonic crypts . 1
4460 MT-TM T-C non-coding - + elderly muscle . 1
4550 MT-ND2 T-C syn + - colonic crypts . 1
4580 MT-ND2 G-A syn + - pancreatic cancer cell line . 1
4605 MT-ND2 A-G K-E . . head/neck tumor . 1
4613 MT-ND2 A-G syn + - thyroid tumor . 2
4646 MT-ND2 T-C syn + - glioblastoma . 1
4722 MT-ND2 A-G T-A - + endometrial and ovarian tumors . 1
4788 MT-ND2 G-A G-Ter - + colonic crypts . 1
4811 MT-ND2 A-G syn + - pancreatic cancer cell line . 1
4831 MT-ND2 G-A G-D + + pituitary oncocytoma . 3
4940 MT-ND2 C-T syn + - thyroid tumor . 2
4985 MT-ND2 A-G syn + - thyroid tumor . 2
4986 MT-ND2 A-C T-P - + oral cancer . 1
4986 MT-ND2 A-G T-A - + colonic crypts . 1
5026 MT-ND2 A-G H-R - + oral cancer . 1
5132:5134 MT-ND2 AAA-A frameshift + - skeletal muscle - myopathy . 3
5140 MT-ND2 G-A S-N + - colonic crypts . 1
5164 MT-ND2 G-A R-H - + colonic crypts . 1
5198 MT-ND2 A-G syn + - glioblastoma . 1
5212 MT-ND2 T-C L-P + - endometrial tumor . 1
5231 MT-ND2 G-A syn + - endometrium control tissue Normal in paired tumor tissue 1
5251 MT-ND2 T-del frameshift + - parotid oncocytoma . 1
5260 MT-ND2 G-A W-Ter + - parotid oncocytoma . 1
5298 MT-ND2 A-G I-V + - papillary thyroid carcinoma . 1
5408 MT-ND2 A-del frameshift + - papillary thyroid carcinoma . 1
5480 MT-ND2 A-C syn - + aged substantia nigra neurons . 1
5517 MT-TW T-C non-coding . . MNGIE fibroblasts . 1
5521 MT-TW G-A non-coding + - lung tumor, oncocytoma . 3
5567 MT-TW T-C non-coding - + endometrial and ovarian tumors . 1
5628 MT-TA T-A non-coding . . MNGIE tissues . 1
5628 MT-TA T-C non-coding . . MNGIE fibroblasts . 1
5633 MT-TA C-T non-coding + - thyroid tumor . 2
5788:16071 MT-TC,MT-TY,MT-CO1,MT-TS1,MT-TD,MT-CO2,MT-TK,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-CYB,MT-TT,MT-TP (N)ins multiple - + elderly muscle 10282-bp deletion 1
5814 MT-TC T-C non-coding - + MNGIE tissues . 2
5843 MT-TY A-G non-coding + + acute leukemia platelets, leukocytes & bone marrow Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. 1
5885 MT-TY T-del non-coding - + CPEO muscle single nucleotide deletion 1
5892 T-C non-coding + - colonic crypts . 1
5918 MT-CO1 T-C syn + - pancreatic cancer cell line . 1
5920 MT-CO1 G-A W-Ter + - skeletal muscle - myopathy . 1
5949 MT-CO1 G-A G-Ter - + prostate tumor . 1
5958 MT-CO1 T-C Y-H + - colonic crypt clone 1
5973 MT-CO1 G-A A-T + - pancreatic cancer cell line . 1
5999 MT-CO1 T-C syn + - pancreatic cancer cell line, glioblastoma . 2
6047 MT-CO1 A-G syn + - pancreatic cancer cell line, glioblastoma . 2
6124 MT-CO1 T-C M-T - + prostate tumor . 2
6129 MT-CO1 G-A G-Ter - + endometrial tumor . 1
6146 MT-CO1 A-G syn + - pancreatic cancer cell line . 1
6173:16078 MT-CO1,MT-TS1,MT-TD,MT-CO2,MT-TK,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-CYB,MT-TT,MT-TP (N)ins multiple - + elderly muscle 9904-bp deletion 1
6210 MT-CO1 T-C W-R - + head/neck tumor . 1
6264 MT-CO1 G-A G-Ter + - colorectal tumor . 1
6267 MT-CO1 G-A A-T + - pancreatic cancer cell line . 1
6277 MT-CO1 G-A G-D + - colonic crypts . 2
6473 MT-CO1 C-T syn + - thyroid tumor . 2
6562 MT-CO1 T-C F-S - + endometrial tumor . 1
6650 MT-CO1 A-C syn + - thyroid tumor . 2
6698 MT-CO1 A-del frameshift + - colonic crypts . 1
6707 MT-CO1 T-C syn . . pituitary adenoma . 1
6721 MT-CO1 T-C M-T - + bone marrow, whole blood, platelets, granulocytes AISA (acquired idiopathic sideroblastic anemia) patient 3
6742 MT-CO1 T-C I-T - + bone marrow, whole blood, platelets, granulocytes AISA patient 3
6776 MT-CO1 T-C syn + - breast cystic masses . 1
6822 MT-CO1 T-A S-T - + endometrial tumor . 1
6849 MT-CO1 A-G T-A + + lymphoblast cell line . 1
6852 MT-CO1 G-A G-S . . colonic crypts . 1
6855 MT-CO1 G-A V-I . . pituitary oncocytoma . 1
6869 MT-CO1 C-T syn + - pancreatic cancer cell line . 1
6924 MT-CO1 C-T A-S - + prostate tumor . 2
6937 MT-CO1 T-C I-T + - colonic crypts . 1
6991 MT-CO1 T-C L-P - + endometrial tumor . 1
7013 MT-CO1 G-A syn - + colonic crypts . 1
7053 MT-CO1 G-A G-Ter + - colonic crypts . 1
7055 MT-CO1 A-G syn . . MNGIE fibroblasts . 1
7065 MT-CO1 G-A A-T + - colonic crypts . 1
7090 MT-CO1 G-A W-Ter + - colonic crypts . 1
7103 MT-CO1 C-T syn + - thyroid tumor . 2
7151 MT-CO1 C-T syn + - pancreatic cancer cell line . 1
7222 MT-CO1 A-G Y-C - + muscle- pt with weakness, peripheral neuropathy, ptosis . 1
7275 MT-CO1 T-C S-P + - colonic crypts . 1
7406 MT-CO1 C-CCCC P-PP - + head/neck tumor . 1
7440 MT-CO1 T-C S-P . . MNGIE fibroblasts . 1
7476 MT-TS1 C-T non-coding + - thyroid hyperplasia . 1
7521 MT-TD G-A non-coding + - thyroid tumor . 2
7627:8195 MT-CO2 [AGCT](569) stop codon + - thyroid tumor . 1
7631:8203 MT-CO2 [AGCT](569) del 191 aa + - thyroid tumor . 1
7775 MT-CO2 G-A V-I + + colonic crypts, thyroid tumor . 2
7785 MT-CO2 T-C I-T + - thyroid tumor . 2
7819 MT-CO2 C-A syn + - thyroid tumor . 2
7842:13904 MT-CO2,MT-TK,MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5 (N)ins multiple - + aging liver 6063-bp deletion 2
7873 MT-CO2 C-T syn + - thyroid tumor . 2
7901 MT-CO2 T-C T-R + - colonic crypts . 1
7962 MT-CO2 T-C L-S - + endometrial tumor . 1
7986 MT-CO2 G-T R-Q + - pancreatic cancer cell line . 1
8009 MT-CO2 G-A V-M + - colorectal tumor . 3
8108 MT-CO2 A-G I-V . . MNGIE fibroblasts . 1
8154 MT-CO2 G-A G-E + - colonic crypts . 1
8344 MT-TK A-G non-coding - + bone marrow, elderly muscle AISA patient 3
8367 MT-ATP8 T-C M-T . . MNGIE fibroblasts . 1
8374 MT-ATP8 A-G syn . . pituitary adenoma . 1
8469:13447 MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5 (N)ins multiple - + CPEO, elderly brain, elderly muscle, elderly temporal bone, deafness, myopathic muscle, kidney disease, sunbed exposure, photoaged skin, breast cancer the 'common' deletion. Also reported as 8482:13460 41
8483:16084 MT-ATP8,MT-ATP6,MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-CYB,MT-TT,MT-TP (N)ins multiple - + aging liver, muscle, testis 7436-bp deletion 2
8545 MT-ATP8,MT-ATP6 G-A syn + - endometrial tumor . 1
8545 MT-ATP8,MT-ATP6 G-A A-T + - endometrial tumor . 1
8557 MT-ATP8,MT-ATP6 G-A A-T + - colonic crypts . 1
8572 MT-ATP8,MT-ATP6 G-A non-coding + - colonic crypts . 1
8617 MT-ATP6 A-G I-V + + acute leukemia platelets, leukocytes & bone marrow Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. 1
8696 MT-ATP6 T-C M-T + - pancreatic cancer cell line . 1
8697 MT-ATP6 G-A syn + - thyroid tumor . 2
8701 MT-ATP6 A-G T-A + - thyroid tumors . 3
8706 MT-ATP6 A-G syn + - thyroid tumor . 2
8716 MT-ATP6 A-G K-E + - thyroid tumor . 2
8723:9215 MT-ATP6,MT-CO3 (N)ins multiple - + alcoholic blood . 1
8803 MT-ATP6 A-G T-A + - head/neck tumor . 1
8832 MT-ATP6 A-G syn . . pituitary adenoma . 1
8930 MT-ATP6 C-T T-M . . pituitary adenoma . 1
9030 MT-ATP6 C-T syn + - thyroid tumor . 2
9060 MT-ATP6 C-T syn . . pituitary tumors . 1
9070 MT-ATP6 T-G S-A + - pancreatic cancer cell line . 1
9078 MT-ATP6 T-C syn + - pancreatic cancer cell line . 1
9110 MT-ATP6 T-C I-T MNGIE fibroblasts . 1
9137 MT-ATP6 T-C I-T + - thyroid tumor . 2
9254 MT-CO3 A-G syn + - pancreatic cancer cell line . 1
9261 MT-CO3 A-G T-A . . pituitary adenoma . 1
9296 MT-CO3 C-T syn + - thyroid tumor . 2
9368 MT-CO3 A-G syn + - pancreatic cancer cell line . 1
9436:15913 MT-CO3,MT-TG,MT-ND3,MT-TR,MT-ND4L,MT-ND4,MT-TH,MT-TS2,MT-TL2,MT-ND5,MT-ND6,MT-TE,MT-CYB,MT-TT (N)ins multiple - + elderly muscle 6476-bp deletion 1
9477 MT-CO3 G-A V-I + - thyroid tumor . 3
9477 MT-CO3 G-T V-F + - thyroid tumor . 2
9489 MT-CO3 G-A A-T + - colonic crypts . 1
9537 MT-CO3 C-CC frameshift + - colonic crypts . 1
9537 MT-CO3 C-del frameshift + - colonic crypts . 1
9540 MT-CO3 T-C syn . . tumor . 1
9543 MT-CO3 G-A G-Ter - + colonic crypts . 1
9544 MT-CO3 G-A G-E + - colonic crypts . 1
9547 MT-CO3 G-A G-E + - cloned platelet mtDNA . 1
9575 MT-CO3 G-C syn + - thyroid tumor . 2
9655 MT-CO3 G-A S-N + - thyroid tumor . 2
9691 MT-CO3 C-T A-V + - thyroid tumor . 2
9746 MT-CO3 G-A syn + - thyroid tumor . 2
9758 MT-CO3 T-C syn . . MNGIE fibroblasts . 1
9774 MT-CO3 G-A D-N + - colonic crypts . 1
9804 MT-CO3 G-A A-T + - pancreatic cancer cell line . 1
9921 MT-CO3 G-A A-T - + colonic crypts . 1
9942 MT-CO3 G-A D-N + - endometrial tumor . 1
9948 MT-CO3 G-A V-I + - papillary thyroid carcinoma . 1
9949 MT-CO3 G-A V-I + - colorectal tumor . 2
9985 MT-CO3 G-A G-E - + colonic crypts . 1
10020 MT-TG T-C non-coding - + colonic crypts . 1
10071 MT-ND3 T-C syn + - bladder tumor . 2
10158 MT-ND3 T-C S-P - + MNGIE tissues . 1
10176 MT-ND3 G-A G-T + - pancreatic cancer cell line . 1
10181 MT-ND3 C-T syn + - thyroid tumor . 2
10197 MT-ND3 G-C A-P + - thyroid tumor . 2
10221 MT-ND3 T-C F-L - + MNGIE tissues . 1
10269 MT-ND3 C-T L-F + - thyroid tumor . 2
10272 MT-ND3 C-T L-F + - thyroid tumor . 2
10290 MT-ND3 G-A A-T + - endometrial tumor . 1
10320 MT-ND3 G-A V-I + - thyroid tumor . 2
10321 MT-ND3 T-C V-A + - bladder tumor . 2
10363 MT-ND3 T-C L-P + + adenocarcinoma 1
10386 MT-ND3 G-A G-Ter - + pituitary oncocytoma . 1
10398 MT-ND3 A-G T-A + - various tumors . 4
10432 MT-TR A-G non-coding . . MNGIE fibroblasts . 1
10463 MT-TR T-C non-coding + - endometrium tumor . 1
10495 MT-ND4L T-C non-syn:M-T - + normal tissues . 1
10550 MT-ND4L A-G syn + - endometrium control tissue Normal in paired tumor tissue 1
10551 MT-ND4L T-C S-P + - endometrium tumor . 1
10563 MT-ND4L T-C C-R + - colorectal tumor . 3
10591 MT-ND4L T-C F-S + - colonic crypts . 1
10608 MT-ND4L A-G M-V + - endometrial tumor . 1
10639 MT-ND4L A-G N-S + - thyroid tumor . 2
10640 MT-ND4L T-C syn + - endometrium tumor . 1
10646 MT-ND4L G-C syn . . pituitary oncocytoma . 1
10691 MT-ND4L C-G syn + - thyroid tumor . 2
10695 MT-ND4L G-A A-T . . head/neck tumor . 2
10715 MT-ND4L C-T syn + - pancreatic cancer cell line . 1
10792 MT-ND4 A-G syn + - bladder tumor . 2
10793 MT-ND4 C-T syn + - thyroid tumor, bladder tumor . 3
10822 MT-ND4 C-T syn + - bladder tumor, head/neck tumor . 2
10844 MT-ND4 A-C T-P - + endometrial tumor . 1
10952 MT-ND4 C-CC frameshift + - oncocytoma . 2
10970 MT-ND4 T-C F-L + - pancreatic cancer cell line . 1
10978 MT-ND4 A-G syn + - bladder tumor . 2
11009 MT-ND4 T-C syn + - pancreatic cancer cell line . 2
11016 MT-ND4 G-A S-N + - thyroid tumor . 1
11032:11038 MT-ND4 A(7)-A(6) frameshift + - prostate tumor, oncocytoma . 2
11065 MT-ND4 A-G syn + - bladder tumor . 2
11090 MT-ND4 A-T T-S . . pituitary adenoma . 1
11100 MT-ND4 A-G E-G - + colonic crypts . 1
11126 MT-ND4 G-A E-K + - papillary thyroid carcinoma . 1
11150 MT-ND4 G-A A-T + - head/neck tumor . 2
11152 MT-ND4 T-C syn + - pancreatic cancer cell line . 1
11237 MT-ND4 C-CC frameshift + - pituitary oncocytoma . 1
11315 MT-ND4 C-T syn . . pituitary adenoma . 1
11324 MT-ND4 T-C S-P . . MNGIE fibroblasts . 1
11332 MT-ND4 C-T syn + - thyroid tumor . 2
11409 MT-ND4 C-T P-L + + adenocarcinoma 1
11475 MT-ND4 G-A G-D + - pituitary oncocytoma . 1
11518 MT-ND4 G-A syn + - bladder tumor . 2
11534 MT-ND4 T-C Y-H + - endometrial tumor . 1
11621 MT-ND4 TA-del frameshift-Ter - + head/neck tumor . 1
11674 MT-ND4 C-T syn + - pancreatic cancer cell line, prostate tumor . 3
11703 MT-ND4 T-C L-P + - pancreatic cancer cell line . 1
11770 MT-ND4 T-C syn - + colonic crypts . 1
11781 MT-ND4 T-C I-T + - pancreatic cancer cell line, MNGIE fibroblasts . 2
11794 MT-ND4 T-C syn - + oral cancer . 1
11840 MT-ND4 C-T syn + - thyroid tumor . 2
11872 MT-ND4 C-CC frameshift - + pituitary oncocytoma . 1
11873 MT-ND4 A-AC frameshift - + endometrial and ovarian tumors . 1
11900 MT-ND4 G-A V-M . . breast tumor . 2
11947 MT-ND4 A-G syn + - prostate tumor . 2
11974 MT-ND4 A-G syn + - pancreatic cancer cell line . 1
12049 MT-ND4 C-T syn + - bladder tumor . 2
12196 MT-TH C-T non-coding + + acute leukemia platelets, leukocytes & bone marrow Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. 1
12220 MT-TS2 A-G non-coding - + aging liver & heart . 1
12233 MT-TS2 C-del non-coding - + control colon tissue absent in paired tumor sample 1
12236 MT-TS2 G-A non-coding + - thyroid tumor . 2
12258 MT-TS2 C-G non-coding - + endometrium tumor DMDF mutation 1
12278 MT-TL2 T-C non-coding + - ovary tumor absent in paired tumor sample 1
12300 MT-TL2 G-A non-coding - + lung-carcinoma cybrid spontaneous leucine suppressor mutant 3
12301 MT-TL2 G-A non-coding - + bone marrow, whole blood, platelets, granulocytes AISA patient 3
12308 MT-TL2 A-G non-coding + - endometrium control tissue, lung tumor, prostate tumor absent in paired end. tumor sample, haplogroup U marker 3
12310 MT-TL2 A-G non-coding . . MNGIE fibroblasts . 1
12334 MT-TL2 G-A non-coding + + skeletal muscle - myopathy, EXIT . 2
12338 MT-ND5 T-C M-T + - colon cancer 1
12344 MT-ND5 T-A M-K . . breast tumor . 2
12345 MT-ND5 G-A syn + - lung tumor . 2
12372 MT-ND5 G-A syn + - prostate tumor . 2
12384 MT-ND5 T-TT frameshift + - oncocytoma . 1
12385:12390 MT-ND5 C(6)-C(7) frameshift - + colonic crypts, omcocytoma . 2
12414 MT-ND5 T-C syn + - pancreatic cancer cell line, prostate tumor . 3
12418 MT-ND5 A-AA frameshift = 12425insA + + colorectal tumor . 4
12425 MT-ND5 A-AA frameshift = 12418insA + + colorectal tumor, normal tissues, endometrial and ovarian tumors . 5
12425 MT-ND5 A-del frameshift - + pituitary oncocytoma, normal tissues . 2
12439 MT-ND5 T-C Y-H - + endometrial tumor . 1
12519 MT-ND5 T-C syn + - bladder tumor . 2
12561 MT-ND5 G-A syn + - pancreatic cancer cell line . 1
12705 MT-ND5 C-T syn + - prostate tumor . 3
12717 MT-ND5 C-T syn + - pancreatic cancer cell line . 1
12778 MT-ND5 G-A G-Ter . . pituitary oncocytoma . 1
12813 MT-ND5 C-A Y-Ter + + adenocarcinoma 1
12918 MT-ND5 C-T syn + - thyroid tumor . 2
12936 MT-ND5 A-G syn + - glioblastoma . 1
12954 MT-ND5 T-C syn + - pancreatic cancer cell line . 1
12967 MT-ND5 A-C T-P + - thyroid tumor . 2
13083 MT-ND5 A-AC frameshift - + pituitary oncocytoma . 1
13103 MT-ND5 G-A G-E + + squamous cell carcinoma 1
13124 MT-ND5 T-C F-S + - glioblastoma . 1
13178 MT-ND5 G-A G-D - + head/neck tumor . 1
13274 MT-ND5 T-C non-syn:M-T - + normal tissues . 1
13366 MT-ND5 G-A G-Ter - + head/neck tumor, adenocarcinoma . 2
13493 MT-ND5 T-C L-P + - oncocytoma . 1
13500 MT-ND5 T-C syn + - pancreatic cancer cell line . 1
13514 MT-ND5 A-G D-G + - papillary thyroid carcinoma . 2
13540 MT-ND5 T-C S-P - + head/neck tumor . 1
13708 MT-ND5 G-A A-T + + acute leukemia platelets, leukocytes & bone marrow, breast tumor Heteroplasmic in acute leukemia, homoplasmic or absent in earlier stage. 3
13711 MT-ND5 G-A non-syn:A-T - + normal tissues . 1
13714 MT-ND5 G-A G-Ter + - head/neck tumor . 1
13718 MT-ND5 G-A S-N + - endometrial tumor . 1
13879 MT-ND5 T-C S-P . . MNGIE fibroblasts . 1
13889 MT-ND5 G-A C-Y + - head/neck tumor . 1
13943 MT-ND5 C-T T-M + - thyroid tumor . 2
13994 MT-ND5 T-C L-P - + endometrial and ovarian tumors . 1
14050 MT-ND5 T-C S-P - + endometrial tumor . 1
14053 MT-ND5 A-G A-T + - prostate tumor . 2
14080 MT-ND5 G-GA frameshift - + pituitary oncocytoma . 1
14138 MT-ND5 T-C L-P + + colon cancer 1
14166 MT-ND6 T-C I-V . . MNGIE fibroblasts . 1
14279 MT-ND6 G-A S-L + - endometrial tumor . 1
14417 MT-ND6 A-G V-A + - papillary thyroid carcinoma . 1
14491 MT-ND6 C-T syn . . pituitary oncocytoma . 1
14498 MT-ND6 T-A Y-F + - thyroid tumor . 2
14504 MT-ND6 A-del L-Ter + - adenocarcinoma 1
14510 MT-ND6 A-del frameshift - + endometrial tumor . 1
14552 MT-ND6 A-G V-A + - pancreatic cancer cell line . 1
14560 MT-ND6 G-T syn + - thyroid tumor . 2
14603 MT-ND6 G-A S-F + - pancreatic cancer cell line xenograft . 1
14620 MT-ND6 C-T syn + - glioblastoma . 1
14650 MT-ND6 C-T syn + - pancreatic cancer cell line . 1
14687 MT-TE A-G non-coding + - mitochondrial myopathy w respiratory failure "nearly homoplasmic" 1
14798 MT-CYB T-C F-L + - glioblastoma . 1
14815 MT-CYB C-T syn - + endometrial tumor . 1
14846 MT-CYB G-A G-S + - skeletal muscle - myopathy . 1
14866 MT-CYB C-T syn + - pancreatic cancer cell line . 1
14869 MT-CYB G-A syn . . breast tumor . 2
14880 MT-CYB T-A I-N . . MNGIE fibroblasts . 1
14920 MT-CYB C-T syn - + colonic crypts . 1
14927:14941 MT-CYB [AGCT](15) del TAFSS + - thyroid tumor . 1
14963 MT-CYB G-A V-M - + colonic crypts . 1
14985 MT-CYB G-A R-H + - colorectal tumor . 3
15013 MT-CYB A-G syn . . pituitary adenoma . 1
15084 MT-CYB G-A W-Ter - + colonic crypts . 1
15084 MT-CYB G-A W-Ter + - skeletal muscle - myopathy . 1
15168 MT-CYB G-A W-Ter + - skeletal muscle - myopathy . 1
15172 MT-CYB G-A syn . . endometrial tumor . 1
15179 MT-CYB G-A V-M + - thyroid tumor . 2
15182 MT-CYB A-G I-V + - thyroid tumor . 2
15247 MT-CYB C-T syn + - endometrial and ovarian tumors . 1
15280:15820 MT-CYB C-T syn + - thyroid tumor . 2
15301 MT-CYB G-A syn . . tumor . 1
15312 MT-CYB T-G I-S + - thyroid tumor . 2
15530 MT-CYB T-d frameshift . . breast tumor . 1
15535 MT-CYB C-CG frameshift . . breast tumor . 1
15535 MT-CYB C-G N-K . . breast tumor . 1
15536 MT-CYB A-G T-A . . breast tumor . 1
15537 MT-CYB C-A T-N . . breast tumor . 1
15538 MT-CYB C-T T-T . . breast tumor . 1
15539 MT-CYB C-CA frameshift . . breast tumor . 1
15540 MT-CYB C-CC frameshift - + colonic crypts . 1
15541 MT-CYB T-A P-P . . breast tumor . 1
15541 MT-CYB T-C P-P . . breast tumor . 1
15541 MT-CYB T-d frameshift . . breast tumor . 1
15546 MT-CYB A-C H-P . . breast tumor . 1
15547 MT-CYB C-d frameshift . . breast tumor . 1
15548 MT-CYB A-AG frameshift . . breast tumor . 1
15548 MT-CYB A-G I-V . . breast tumor . 1
15550 MT-CYB C-d frameshift . . breast tumor . 1
15550 MT-CYB C-T I-I . . breast tumor . 1
15553 MT-CYB G-A K-K . . breast tumor . 1
15554 MT-CYB C-A P-T . . breast tumor . 1
15556 MT-CYB C-G P-P . . breast tumor . 1
15556 MT-CYB C-T P-P . . breast tumor . 1
15558 MT-CYB A-C E-A . . breast tumor . 1
15558 MT-CYB A-G E-G . . breast tumor . 1
15559 MT-CYB A-T E-D . . breast tumor . 1
15560 MT-CYB T-TT frameshift . . breast tumor . 1
15561 MT-CYB G-T W-L . . breast tumor . 1
15562 MT-CYB A-AA frameshift . . breast tumor . 1
15562 MT-CYB A-d frameshift . . breast tumor . 1
15563 MT-CYB T-A Y-N . . breast tumor . 1
15563 MT-CYB T-TG frameshift . . breast tumor . 1
15564 MT-CYB A-C Y-S . . breast tumor . 1
15564 MT-CYB A-G Y-C . . breast tumor . 1
15565 MT-CYB T-TC frameshift . . breast tumor . 1
15568 MT-CYB C-d frameshift . . breast tumor . 1
15568 MT-CYB C-T F-F . . breast tumor . 1
15569 MT-CYB C-T L-L . . breast tumor . 1
15571 MT-CYB A-G L-L . . breast tumor . 1
15572 MT-CYB T-C F-L + - colorectal tumor . 3
15572 MT-CYB T-G F-V . . breast tumor . 1
15573 MT-CYB T-C F-S - + endometrial and ovarian tumors . 1
15574 MT-CYB C-G F-L . . breast tumor . 1
15574 MT-CYB C-T F-F . . breast tumor . 1
15576 MT-CYB C-d frameshift . . breast tumor . 1
15577 MT-CYB C-A A-A . . breast tumor . 1
15580 MT-CYB C-CG frameshift . . breast tumor . 1
15580 MT-CYB C-T Y-Y . . breast tumor . 1
15581 MT-CYB A-G T-A . . breast tumor . 1
15585 MT-CYB T-d frameshift . . breast tumor . 1
15586 MT-CYB T-TT frameshift . . breast tumor . 1
15588 MT-CYB T-G L-R . . breast tumor . 1
15588 MT-CYB T-TT frameshift . . breast tumor . 1
15588 MT-CYB T-TTA frameshift . . breast tumor . 1
15589 MT-CYB C-A L-L . . breast tumor . 1
15590 MT-CYB C-A R-Term . . breast tumor . 1
15591 MT-CYB G-d frameshift . . breast tumor . 1
15592 MT-CYB A-AG frameshift . . breast tumor . 1
15592 MT-CYB A-d frameshift . . breast tumor . 1
15592 MT-CYB A-G R-R . . breast tumor . 1
15595 MT-CYB C-T S-S . . breast tumor . 1
15596 MT-CYB G-A V-I . . breast tumor . 1
15601 MT-CYB T-A P-P . . breast tumor . 1
15602 MT-CYB A-G N-D . . breast tumor . 1
15604 MT-CYB C-T N-N . . breast tumor . 1
15607 MT-CYB A-G K-K . . breast tumor . 1
15608 MT-CYB C-A L-M . . breast tumor . 1
15608 MT-CYB C-G L-V . . breast tumor . 1
15609 MT-CYB T-A L-L . . breast tumor . 1
15612 MT-CYB G-GG frameshift . . breast tumor . 1
15613 MT-CYB A-AA frameshift . . breast tumor . 1
15613 MT-CYB A-G G-G . . breast tumor . 1
15614 MT-CYB G-A G-S . . breast tumor . 1
15616 MT-CYB C-d frameshift . . breast tumor . 1
15616 MT-CYB C-G G-G . . breast tumor . 1
15619 MT-CYB C-A V-V . . breast tumor . 1
15620 MT-CYB C-G L-V . . breast tumor . 1
15621 MT-CYB T-G L-R . . breast tumor . 1
15622 MT-CYB T-G L-L . . breast tumor . 1
15628 MT-CYB A-C L-L . . breast tumor . 1
15629 MT-CYB T-C L-L . . breast tumor . 1
15629 MT-CYB T-G L-V . . breast tumor . 1
15630 MT-CYB T-G L-W . . breast tumor . 1
15631 MT-CYB A-AG frameshift . . breast tumor . 1
15631 MT-CYB A-G L-L . . breast tumor . 1
15636 MT-CYB C-T S-F . . breast tumor . 1
15637 MT-CYB C-G S-S . . breast tumor . 1
15637 MT-CYB C-T S-S . . breast tumor . 1
15640 MT-CYB C-T I-I . . breast tumor . 1
15641 MT-CYB C-G L-V . . breast tumor . 1
15641 MT-CYB C-T L-F . . breast tumor . 1
15642:15662 MT-CYB [AGCT](21) del ILAMIPI - + bladder tumor . 2
15643 MT-CYB C-T L-L . . breast tumor . 1
15646 MT-CYB C-T syn + - pancreatic cancer cell line, breast tumor . 2
15647 MT-CYB C-A L-M . . breast tumor . 1
15653 MT-CYB A-G M-V . . breast tumor . 1
15654 MT-CYB T-C M-T . . breast tumor . 1
15655 MT-CYB A-C M-I . . breast tumor . 1
15657 MT-CYB T-d frameshift . . breast tumor . 1
15658 MT-CYB C-A I-M . . breast tumor . 1
15658 MT-CYB C-d frameshift . . breast tumor . 1
15659 MT-CYB C-G P-A . . breast tumor . 1
15660 MT-CYB C-CT frameshift . . breast tumor . 1
15661 MT-CYB C-G P-P . . breast tumor . 1
15662 MT-CYB A-d frameshift . . breast tumor . 1
15662 MT-CYB A-G I-V . . breast tumor . 1
15663 MT-CYB T-d frameshift . . breast tumor . 1
15663 MT-CYB T-TG frameshift . . breast tumor . 1
15664 MT-CYB C-A I-M . . breast tumor . 1
15664 MT-CYB C-CA frameshift . . breast tumor . 1
15664 MT-CYB C-T I-I . . breast tumor . 1
15666 MT-CYB T-d frameshift . . breast tumor . 1
15667 MT-CYB C-d frameshift . . breast tumor . 1
15667 MT-CYB C-T L-L . . breast tumor . 1
15669 MT-CYB A-AA frameshift . . breast tumor . 1
15669 MT-CYB A-T H-L . . breast tumor . 1
15670 MT-CYB T-C H-H . . breast tumor . 1
15670 MT-CYB T-d frameshift . . breast tumor . 1
15670 MT-CYB T-G H-E . . breast tumor . 1
15671 MT-CYB A-C M-L . . breast tumor . 1
15672 MT-CYB T-C M-T . . breast tumor . 1
15672 MT-CYB T-TC frameshift . . breast tumor . 1
15674 MT-CYB T-C S-P . . breast tumor . 1
15676 MT-CYB C-T S-S . . breast tumor . 1
15679 MT-CYB A-C K-N . . breast tumor . 1
15682 MT-CYB A-G Q-Q . . breast tumor . 1
15688 MT-CYB C-T S-S . . breast tumor . 1
15689 MT-CYB A-T M-L . . breast tumor . 1
15693 MT-CYB T-C M-T . . breast tumor . 1
15695 MT-CYB T-A F-I . . breast tumor . 1
15697 MT-CYB T-A F-L . . breast tumor . 1
15697 MT-CYB T-C F-F . . breast tumor . 1
15698 MT-CYB C-G R-G . . breast tumor . 1
15700 MT-CYB C-T R-R . . breast tumor . 1
15703 MT-CYB A-T P-P . . breast tumor . 1
15704 MT-CYB C-A L-M . . breast tumor . 1
15704 MT-CYB C-T L-L . . breast tumor . 1
15708 MT-CYB G-A S-N . . breast tumor . 1
15709 MT-CYB C-A S-Ter . . breast tumor . 1
15709 MT-CYB C-T S-S . . breast tumor . 1
15714 MT-CYB C-A S-Ter . . breast tumor . 1
15714 MT-CYB C-d frameshift . . breast tumor . 1
15716 MT-CYB C-A L-I . . breast tumor . 1
15716 MT-CYB C-T L-F . . breast tumor . 1
15718 MT-CYB T-C L-L . . breast tumor . 1
15718 MT-CYB T-TA frameshift . . breast tumor . 1
15719 MT-CYB T-C Y-H . . breast tumor . 1
15720 MT-CYB A-d frameshift . . breast tumor . 1
15721 MT-CYB T-C Y-Y . . breast tumor . 1
15723 MT-CYB A-GG frameshift . . breast tumor . 1
15725 MT-CYB C-G L-V . . breast tumor . 1
15726 MT-CYB T-C L-P . . breast tumor . 1
15726 MT-CYB T-d frameshift . . breast tumor . 1
15729 MT-CYB T-G L-R . . breast tumor . 1
15729 MT-CYB T-TT frameshift . . breast tumor . 1
15730 MT-CYB A-T L-L . . breast tumor . 1
15731 MT-CYB G-GT frameshift . . breast tumor . 1
15732 MT-CYB C-CA frameshift . . breast tumor . 1
15732 MT-CYB C-G A-G . . breast tumor . 1
15732 MT-CYB C-T A-V . . breast tumor . 1
15734 MT-CYB G-A A-T . . breast tumor . 1
15734 MT-CYB G-d frameshift . . breast tumor . 1
15737 MT-CYB G-d frameshift . . breast tumor . 1
15738 MT-CYB A-G D-G . . breast tumor . 1
15739 MT-CYB C-d frameshift . . breast tumor . 1
15741 MT-CYB T-G L-R . . breast tumor . 1
15742 MT-CYB C-A L-L . . breast tumor . 1
15743 MT-CYB C-T L-F . . breast tumor . 1
15744 MT-CYB T-A L-H . . breast tumor . 1
15744 MT-CYB T-TT frameshift . . breast tumor . 1
15745 MT-CYB C-A L-L . . breast tumor . 1
15746 MT-CYB A-C I-L . . breast tumor . 1
15748 MT-CYB T-C I-I . . breast tumor . 1
15749 MT-CYB C-T L-L . . breast tumor . 1
15750 MT-CYB T-A L-Q . . breast tumor . 1
15751 MT-CYB A-T L-L . . breast tumor . 1
15752 MT-CYB A-G T-A . . breast tumor . 1
15754 MT-CYB C-A T-T . . breast tumor . 1
15754 MT-CYB C-T T-T . . breast tumor . 1
15755 MT-CYB T-C W-R . . breast tumor . 1
15756 MT-CYB G-A W-Ter - + colonic crypts . 1
15760 MT-CYB C-G I-M . . breast tumor . 1
15761 MT-CYB G-A G-Ter - + ovarian carcinoma . 1
15763 MT-CYB A-G G-G . . breast tumor . 1
15766 MT-CYB A-G G-G . . breast tumor . 1
15767 MT-CYB C-A Q-K . . breast tumor . 1
15767 MT-CYB C-T Q-Ter - + head/neck tumor, breast tumor . 2
15769 MT-CYB A-G Q-Q . . breast tumor . 1
15773 MT-CYB G-d frameshift . . breast tumor . 1
15774 MT-CYB T-A V-E . . breast tumor . 1
15777 MT-CYB G-GG frameshift . . breast tumor . 1
15778 MT-CYB C-A S-Ter . . breast tumor . 1
15778 MT-CYB C-d frameshift . . breast tumor . 1
15779 MT-CYB T-C Y-H . . breast tumor . 1
15779 MT-CYB T-G Y-D . . breast tumor . 1
15781 MT-CYB C-CT frameshift . . breast tumor . 1
15781 MT-CYB C-G Y-Ter . . breast tumor . 1
15782 MT-CYB C-T P-S . . breast tumor . 1
15784 MT-CYB T-C syn + - pancreatic cancer cell line, breast tumor . 2
15784 MT-CYB T-d frameshift . . breast tumor . 1
15784 MT-CYB T-G P-P . . breast tumor . 1
15784 MT-CYB T-TG frameshift . . breast tumor . 1
15785 MT-CYB T-G F-V . . breast tumor . 1
15786 MT-CYB T-G F-C . . breast tumor . 1
15787 MT-CYB T-G F-L . . breast tumor . 1
15789 MT-CYB C-A T-N . . breast tumor . 1
15789 MT-CYB C-T T-I . . breast tumor . 1
15790 MT-CYB C-T T-T . . breast tumor . 1
15792 MT-CYB T-C I-T . . breast tumor . 1
15796 MT-CYB T-A I-M . . breast tumor . 1
15797 MT-CYB G-A G-Ter . . breast tumor . 1
15804 MT-CYB T-A V-E . . breast tumor . 1
15807 MT-CYB C-T A-V . . breast tumor . 1
15808 MT-CYB A-G A-A . . breast tumor . 1
15808 MT-CYB A-T A-A . . breast tumor . 1
15811 MT-CYB C-G S-S . . breast tumor . 1
15811 MT-CYB C-T S-S . . breast tumor . 1
15812 MT-CYB G-d frameshift . . breast tumor . 1
15814 MT-CYB A-AA frameshift . . breast tumor . 1
15814 MT-CYB A-d frameshift . . breast tumor . 1
15814 MT-CYB A-T V-V . . breast tumor . 1
15815 MT-CYB C-A L-M . . breast tumor . 1
15815 MT-CYB C-G L-V . . breast tumor . 1
15816 MT-CYB T-TT frameshift . . breast tumor . 1
15820 MT-CYB C-A Y-Ter . . breast tumor . 1
15824 MT-CYB A-G T-A . . breast tumor . 1
15826 MT-CYB A-T T-T . . breast tumor . 1
15828 MT-CYB C-T T-M . . breast tumor . 1
15829 MT-CYB A-G T-T . . breast tumor . 1
15830 MT-CYB A-G I-V . . breast tumor . 1
15831 MT-CYB T-C I-T . . MNGIE fibroblasts / endometrial tumor . 3
15832 MT-CYB C-T I-I . . breast tumor . 1
15834 MT-CYB T-G L-R . . breast tumor . 1
15835 MT-CYB A-T L-L . . breast tumor . 1
15836 MT-CYB A-C I-L . . breast tumor . 1
15836 MT-CYB A-T I-F . . breast tumor . 1
15838 MT-CYB C-T I-I . . breast tumor . 1
15839 MT-CYB C-CC frameshift . . breast tumor . 1
15839 MT-CYB C-G L-V . . breast tumor . 1
15839 MT-CYB C-T L-L . . breast tumor . 1
15841 MT-CYB A-T L-L . . breast tumor . 1
15842 MT-CYB A-d frameshift . . breast tumor . 1
15842 MT-CYB A-T M-L . . breast tumor . 1
15844 MT-CYB A-C M-I . . breast tumor . 1
15849 MT-CYB C-A T-N . . breast tumor . 1
15849 MT-CYB C-T T-I . . breast tumor . 1
15884 MT-CYB G-C A-P + - pancreatic cancer cell line . 1
15956 MT-TP T-C non-coding - + MNGIE tissues . 2
15983 MT-TP T-C non-coding + - pancreatic cancer cell line xenograft . 1
15995 MT-TP G-A non-coding + - endometrial tumor . 1
16028 T-C non-coding - + myocyte . 1
16029 T-C non-coding - + myocyte . 1
16033 G-A non-coding - + myocyte . 1
16034 G-A non-coding - + ovarian tumor, myocyte, normal tissues . 3
16035 G-A non-coding - + myocyte, normal tissues . 2
16036 G-A non-coding - + myocyte, normal tissues . 2
16043 A-G non-coding - + MNGIE tissues . 1
16049 G-A non-coding - + myocyte, normal tissues . 2
16053 C-del non-coding - + myocyte . 1
16054 A-G non-coding - + myocyte . 1
16093 C-T non-coding + - breast & prostate tumors, normal tissues . 4
16111 C-T non-coding + - colonic crypts, prostate tumor . 3
16126 T-C non-coding + - glioblastoma, normal tissues . 3
16134 C-T non-coding + - glioblastoma . 2
16148 C-T non-coding nr nr aging brains . 1
16172 T-C non-coding - + MNGIE tissues, head/neck tumor back-mutation . 3
16182 A-C non-coding + + prostate tumor . 2
16183 A-C non-coding + - lung tumor back-mutation, prostate tumor . 3
16183 A-del non-coding + - colonic crypts . 1
16183 A-G non-coding + - prostate tumor . 2
16187 C-T non-coding + - lung tumor . 2
16188 C-CC non-coding + - hair . 1
16189 T-C non-coding + + prostate tumor,normal buccal swab . 5
16189 T-TT non-coding + - bladder tumor . 1
16193 C-C(1,2,3) non-coding - + ovarian & prostate tumors, normal buccal swabs . 4
16193 C-T non-coding + - ovarian tumor . 1
16205 C-T non-coding + + normal buccal swab . 2
16217 T-C non-coding + - prostate tumor . 2
16218 C-T non-coding + - ovarian tumor . 3
16223 C-T non-coding . . tumor . 1
16232 C-A non-coding - + prostate tumor . 2
16240 A-G non-coding - + endometrial tumor . 1
16247 A-G non-coding . . MNGIE fibroblasts . 1
16248 C-T non-coding + - ovarian tumor . 1
16249 T-C non-coding - + prostate tumor . 2
16260 C-T non-coding + - gastric carcinoma . 1
16265 A-C non-coding + - bladder tumor . 2
16274 G-A non-coding - + prostate tumor . 2
16278 C-T non-coding + - ovarian control tissue . 2
16290 C-T non-coding - + breast tumor . 1
16291:19291 C-T non-coding + + normal tissues . 1
16292 C-T non-coding + - breast, ovarian, head/neck tumor . 4
16293 A-G non-coding + - glioblastoma . 2
16298 T-C non-coding + + prostate tumor . 2
16300 A-G non-coding + - head/neck tumor . 2
16304 T-C non-coding + + esophageal, breast & prostate tumors . 4
16309 A-G non-coding + + normal buccal swab . 2
16311 T-C non-coding - + prostate tumor . 1
16324 T-C non-coding + - esophageal cancer . 1
16352 T-C non-coding - + MNGIE fibroblasts . 1
16355 C-T non-coding + + normal tissues . 2
16356 T-C non-coding + - glioblastoma . 2
16357 T-C non-coding + - hair . 1
16365 C-T non-coding + - ovarian carcinoma . 2
16390 G-A non-coding + + breast, ovarian tumor . 2
16391:16931 G-A non-coding + - ovarian tumor . 1
16399 A-G non-coding - + gastric carcinoma . 1
16403 C-T non-coding + - prostate tumor . 2
16438 G-A non-coding - + gastric carcinoma . 1
16459 C-T non-coding + - prostate tumor . 2
16465 C-T non-coding + - ovarian tumor . 1
16474 G-C non-coding - + prostate tumor . 2
16519 T-C non-coding + + glioblastoma, gastric, lung, ovarian, prostate tumors . 6
16527 C-T non-coding + - pancreatic cancer cell line . 1
16532 A-T non-coding - + bladder tumor . 1
16537 C-T non-coding + - pancreatic cancer cell line . 1

Notes:

For an extensive list of reported mtDNA deletions, click here.
Topic revision: r6 - 15 Dec 2017, ShipingZhang
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