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MITOMAP: Unpublished mtDNA Variants {ARCHIVED, no longer updated}

To submit unpublished mtDNA variant data to an online database, please contact lishen@chla.usc.edu at MSeqDR. We no longer accept direct variant submissions here at Mitomap.

To submit sequences to GenBank, use the BankIt tool. (We pull sequences from GenBank 3-4 times a year to add to Mitomap's database.)

If you would like to submit published data and articles to be included in mitomap, please send the citation & a pdf file to mitomap@email.chop.edu.

Also see the submission index

Point Mutations - includes benign & 'potentially pathogenic' variants

Details and Citation Position Nucleotide ChangeSorted descending Amino Acid Change Locus / Gene Patient Group / Phenotype Ethnographic Info
20030528079 55 T-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528122 63 T-G non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030527020 72 T-G non-coding Control Region Oral Cancer Asian Indian
20030528124 74 T-G non-coding Control Region Oral Cancer Asian Indian- Gujarati
20120907006 74 T-G noncod D-Loop   European
20030529011 119 T-G non-coding Control Region Oral Cancer Asian Indian
20000211004 125 T-G noncod D-Loop - Chinese
20030528133 125 T-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528026 131 T-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528027 135 T-G non-coding Control Region Oral Cancer Asian Indian
20030528136 172 T-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030527006 204 T-G non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030527007 206 T-G non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030527010 224 T-G non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030528056 226 T-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030527040 239 T-G non-coding Control Region Oral Cancer Asian Indian- Bengali
20050106007 489 T-G non-coding Control Region Normal Caucasian
20100804021 961 T-G rRNA MT-RNR1    
20050919006 1245 T-G rRNA MT-RNR1 Normal Arabs
20110503008 3456 T-G syn MT-ND1 Congenital Non-syndromic Deafness  
20100804178 3866 T-G I-S MT-ND1    
20040713002 4510 T-G F-C MT-ND2 Oral Cancer Asian
20100804290 5038 T-G M-Ter MT-ND2    
20100804291 5041 T-G M-Ter MT-ND2    
20070724005 5523 T-G non-coding MT-TW Leigh Syndrome Caucasian/Africain
20070724008 5618 T-G tRNA MT-TA Leigh Syndrome Caucasian/Africain
20131120001 8241 T-G F-C MT-CO2 DIABETES Caucasian/Africain
20070327001 8741 T-G L-R MT-ATP6 Normal Arabs
20100804646 8823 T-G syn MT-ATP6    
20100804660 8993 T-G L-R MT-ATP6    
20070327005 9012 T-G syn MT-ATP6 Leigh Syndrome Arabs
20100804675 9070 T-G S-A MT-ATP6    
20100804683 9101 T-G I-S MT-ATP6    
20110224001 10158 T-G S-A MT-ND3 LHON South Indian
20100804825 10551 T-G S-A MT-ND4L    
20010303007 10707 T-G S-A MT-ND4L Breast Cancer Caucasian
20100804905 11379 T-G M-Ter MT-ND4    
20051007005 11776 T-G S-Ter MT-ND4 - Caucasian
20050813010 11830 T-G F-L MT-ND4 Normal Arabs
20100804960 12083 T-G S-A MT-ND4    
20100804981 12376 T-G S-A MT-ND5    
20100805015 12698 T-G L-R MT-ND5    
20100805022 12738 T-G syn MT-ND5    
20100805110 13762 T-G S-A MT-ND5    
20100805230 14778 T-G M-Ter MT-CYB    
20111213002 14788 T-G I-M MT-CYB normal Africain
20111213005 14828 T-G S-A MT-CYB normal Africain
20111213004 14880 T-G I-S MT-CYB normal Africain
20140731010 15480 T-G F-C MT-CYB CAD+T2DM Asian Indian
20140731011 15585 T-G I-S MT-CYB CAD+T2DM Asian Indian
20140731012 15609 T-G L-R MT-CYB CAD+T2DM Asian Indian
20140422015 15622 T-G Syn MT-CYB Breast cancer Senegalese
20060125001 15713 T-G S-A MT-CYB Epilepsy Russian
20140423010 15787 T-G F-L MT-CYB Breast cancer Senegalese
20160806007 16046 T-G   CR:HVS1/HV1   Iranian
20030528074 16061 T-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529042 16359 T-G non-coding Control Region Oral Cancer Asian Indian
20030528063 16362 T-G non-coding Control Region Oral Cancer Asian Indian- Muslim
20140729001 50 T-C non-coding Control Region CAD+T2DM Asian Indian
20030528080 60 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20021231006 126 T-C noncod D-Loop Normal Madia Gond tribe
20091019002 129 T-C noncod D-Loop Normal Malay
20030527022 131 T-C non-coding Control Region Oral Cancer Asian Indian
20030528134 142 T-C non-coding Control Region Oral Cancer Asian Indian- Sindhi
20140513001 146 T-C non-coding Control Region Breast cancer Senegalese
20030528031 152 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529032 173 T-C non-coding Control Region Oral Cancer Asian Indian
20021231009 189 T-C noncod D-Loop Normal Madia Gond tribe
20030528054 195 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030527027 204 T-C non-coding Control Region Oral Cancer Asian Indian
19990218005 216 T-C noncod D-Loop Hearing Loss Caucasian
20140217002 217 T-C non-coding Control Region sCJD Han Chinese
20000211003 246 T-C noncod D-Loop - Indian
20030528003 265 T-C non-coding Control Region Oral Cancer Asian Indian- Bengali
20060605005 267 T-C non-coding Control Region Normal Indigenous Jehai
20021231010 294 T-C noncod D-Loop Normal Madia Gond tribe
20050419001 480 T-C non-coding Control Region LHON Caucasian
20000211001 482 T-C noncod D-Loop - Indian
20000914002 485 T-C noncod D-Loop - Indian
20101227002 489 T-C non-coding Control Region Oral cancer Asian-Bengali
20030916003 504 T-C non-coding Control Region Liver Cancer Asian
20040720009 593 T-C tRNA MT-TF Breast Cancer Asian
20100804001 596 T-C tRNA MT-TF    
20100804002 629 T-C tRNA MT-TF    
20110302002 634 T-C tRNA MT-TF combined complex I+IV deficiency, epilepsia, muscle hypotonia, mental retardation  
20120119001 650 T-C Noncod MT-TF normal Indonesian
20100804004 669 T-C tRNA MT-TF    
20071219001 689 T-C rRNA MT-RNR1 Normal Caucasian
19990316006 711 T-C noncod MT-RNR1 - -
20110503001 720 T-C rRNA MT-RNR1 Congenital Non-syndromic Deafness  
20050308003 742 T-C rRNA MT-RNR1 Normal Africain
20100804018 953 T-C rRNA MT-RNR1    
20100804020 961 T-C rRNA MT-RNR1    
20100804023 980 T-C rRNA MT-RNR1    
20100804028 1119 T-C rRNA MT-RNR1    
20050919005 1189 T-C rRNA MT-RNR1 Normal Arabs
20100804029 1189 T-C rRNA MT-RNR1    
20100804030 1193 T-C rRNA MT-RNR1    
20100804031 1243 T-C rRNA MT-RNR1    
20100804032 1284 T-C rRNA MT-RNR1    
20110302016 1386 T-C rRNA MT-RNR1 combined complex I + IV deficiency  
20100804033 1391 T-C rRNA MT-RNR1    
20100804034 1406 T-C rRNA MT-RNR1    
20101129003 1406 T-C rRNA MT-RNR1 Nonsyndromic Hearing Loss Turkish
20110302021 1607 T-C tRNA MT-TV complex I deficiency  
20010828004 1700 T-C noncod MT-RNR2 Sporadic Parathyroid Adenoma -
20041220011 1700 T-C rRNA MT-RNR2 Oral Cancer Asian Indian
20100804044 1700 T-C rRNA MT-RNR2    
20100804050 1738 T-C rRNA MT-RNR2    
20041220002 1780 T-C rRNA MT-RNR2 Oral Cancer Asian Indian
20100804051 1806 T-C rRNA MT-RNR2    
20100804055 1824 T-C rRNA MT-RNR2    
20100804056 1834 T-C rRNA MT-RNR2    
20070207001 1843 T-C rRNA MT-RNR2 Centenarian Caucasian
20100804058 1850 T-C rRNA MT-RNR2    
20100804061 1977 T-C rRNA MT-RNR2    
20100804065 2141 T-C rRNA MT-RNR2    
20100804066 2158 T-C rRNA MT-RNR2    
20100804080 2352 T-C rRNA MT-RNR2    
20100804082 2387 T-C rRNA MT-RNR2    
20100804085 2416 T-C rRNA MT-RNR2    
20050919012 2442 T-C rRNA MT-RNR2 Normal Arabs
20100804087 2442 T-C rRNA MT-RNR2    
20100804088 2483 T-C rRNA MT-RNR2    
20100804105 2850 T-C rRNA MT-RNR2    
20100804107 2885 T-C rRNA MT-RNR2    
20100804108 2955 T-C rRNA MT-RNR2    
20100804110 3027 T-C rRNA MT-RNR2    
20100804111 3083 T-C rRNA MT-RNR2    
19990308003 3197 T-C noncod MT-RNR2 Encephalopathy Cardiomyopathy Mennonite
20041220012 3197 T-C rRNA MT-RNR2 Oral Cancer Asian Indian
20100804115 3197 T-C rRNA MT-RNR2    
20110314001 3197 T-C rRNA MT-RNR2 LHON Caucasion
20100804116 3202 T-C rRNA MT-RNR2    
20100804124 3308 T-C M-T MT-ND1    
20100804126 3335 T-C I-T MT-ND1    
20100804127 3336 T-C syn MT-ND1    
20100804128 3338 T-C V-A MT-ND1    
20110503005 3387 T-C syn MT-ND1 Congenital Non-syndromic Deafness  
20100804132 3394 T-C Y-H MT-ND1    
20100804134 3398 T-C M-T MT-ND1    
20100804136 3423 T-C syn MT-ND1    
20100804143 3504 T-C syn MT-ND1    
20100804147 3540 T-C syn MT-ND1    
20100804149 3552 T-C syn MT-ND1    
20041107002 3605 T-C L-P MT-ND1 Type 2 Diabetes Mellitus Mongolia
20031029001 3645 T-C syn MT-ND1 LHON Arabs
20100804153 3645 T-C syn MT-ND1    
20100804160 3732 T-C syn MT-ND1    
20100804166 3753 T-C syn MT-ND1    
20100804168 3766 T-C syn MT-ND1    
20100804169 3777 T-C syn MT-ND1    
20100804171 3801 T-C syn MT-ND1    
20091229003 3803 T-C I-T MT-ND1 Breast Cancer Caucasian
20100804173 3826 T-C syn MT-ND1    
20040210005 3847 T-C syn MT-ND1 NAION Arabs
20050919016 3847 T-C syn MT-ND1 Normal Arabs
20100804175 3847 T-C syn MT-ND1    
20050809001 3866 T-C I-T MT-ND1 Normal Arabs
20100804183 3944 T-C I-T MT-ND1    
20100804198 4047 T-C syn MT-ND1    
20080414002 4080 T-C syn MT-ND1 Cardiomyopathy Caucasian/Africain
20100804201 4080 T-C syn MT-ND1    
20100804207 4112 T-C L-P MT-ND1    
20100804209 4117 T-C syn MT-ND1    
20010424002 4172 T-C L-P MT-ND1 Sporadic Parathyroid Adenoma -
20040317011 4204 T-C syn MT-ND1 Normal Saudi Arab
20010828010 4216 T-C Y-H MT-ND1 Sporadic Parathyroid Adenoma -
20050813014 4216 T-C Y-H MT-ND1 Normal Arabs
20100804215 4216 T-C Y-H MT-ND1    
20061030002 4232 T-C I-T MT-ND1 Huntington Disease-Like 2 south African Mixed Ancestry
20110801006 4254 T-C syn MT-ND1   ASIAN
20100804219 4291 T-C tRNA MT-TI    
20080117001 4313 T-C noncod MT-TI Deafness Caucasian/Africain
20100804223 4336 T-C tRNA MT-TQ    
20070612001 4363 T-C tRNA MT-TQ Normal Saudi Arabs
20100804224 4363 T-C tRNA MT-TQ    
20010828011 4418 T-C noncod MT-TM Sporadic Parathyroid Adenoma -
20100804228 4418 T-C tRNA MT-TM    
20100804230 4454 T-C tRNA MT-TM    
20100804234 4550 T-C syn MT-ND2    
20100804235 4553 T-C syn MT-ND2    
20100804236 4561 T-C V-A MT-ND2    
20100804239 4589 T-C syn MT-ND2    
20091229006 4598 T-C syn MT-ND2 Breast Cancer African, Amerindian
20100804241 4622 T-C syn MT-ND2    
20100804244 4646 T-C syn MT-ND2    
20100804247 4688 T-C syn MT-ND2    
20100804248 4703 T-C syn MT-ND2    
20100804254 4733 T-C syn MT-ND2    
20100804255 4736 T-C syn MT-ND2    
20091229007 4755 T-C syn MT-ND2 Breast Cancer Africain
20100804263 4772 T-C syn MT-ND2    
20100804264 4774 T-C M-T MT-ND2    
20100804271 4823 T-C syn MT-ND2    
20100804273 4856 T-C syn MT-ND2    
20070724003 4859 T-C syn MT-ND2 Leigh Syndrome Caucasian/Africain
20140731001 4927 T-C L-P MT-ND2 CAD Asian Indian
20100804277 4928 T-C syn MT-ND2    
20040720014 4973 T-C syn MT-ND2 Breast Cancer Caucasian
20000825004 4977 T-C syn MT-ND2 Pancreatic Cancer Caucasian
20100804283 4977 T-C syn MT-ND2    
20000825011 5004 T-C syn MT-ND2 Pancreatic Cancer Caucasian
20100804285 5004 T-C syn MT-ND2    
20100804286 5021 T-C syn MT-ND2    
20100804288 5029 T-C M-T MT-ND2    
20100804295 5063 T-C syn MT-ND2    
20100804296 5074 T-C I-T MT-ND2    
20110801002 5082 T-C syn MT-ND2 Hearing Impairment and Diabetes ASIAN
20091229009 5087 T-C syn MT-ND2 Breast Cancer Africain
20091229010 5096 T-C syn MT-ND2 Breast Cancer Africain
20100804297 5108 T-C syn MT-ND2    
20100804302 5162 T-C syn MT-ND2    
20100804306 5201 T-C syn MT-ND2    
20100804313 5250 T-C syn MT-ND2    
20100804315 5277 T-C F-L MT-ND2    
19990316017 5393 T-C syn MT-ND2 - -
20100804326 5393 T-C syn MT-ND2    
20091229016 5420 T-C syn MT-ND2 Breast Cancer Amerindian
20100804329 5426 T-C syn MT-ND2    
20100804331 5442 T-C F-L MT-ND2    
20100804336 5465 T-C syn MT-ND2    
19990316018 5485 T-C I-T MT-ND2 - -
20100804339 5492 T-C syn MT-ND2    
20100804340 5495 T-C syn MT-ND2    
20100804344 5508 T-C syn MT-ND2    
20100804347 5553 T-C non-coding MT-TW    
20100804349 5580 T-C non-coding MT-NC3    
20100804355 5628 T-C tRNA MT-TA    
19990316019 5655 T-C noncod MT-TA - -
20100804357 5655 T-C tRNA MT-TA    
20100804361 5774 T-C tRNA MT-TC    
20100804362 5785 T-C tRNA MT-TC    
20100804363 5788 T-C tRNA MT-TC    
20100804364 5802 T-C tRNA MT-TC    
20100804365 5814 T-C tRNA MT-TC    
20100804374 5918 T-C syn MT-CO1    
20050919020 5981 T-C syn MT-CO1 Normal Arabs
20100804380 5999 T-C syn MT-CO1    
20100804385 6071 T-C syn MT-CO1    
20100804387 6092 T-C syn MT-CO1    
19990316020 6152 T-C syn MT-CO1 - -
20100804390 6152 T-C syn MT-CO1    
20100804392 6167 T-C syn MT-CO1    
20100804393 6176 T-C syn MT-CO1    
20090529002 6216 T-C L1-L2 MT-CO1 Infertility Africain/caucasian
20100804395 6221 T-C syn MT-CO1    
20100804396 6227 T-C syn MT-CO1    
20100804408 6293 T-C syn MT-CO1    
20100804413 6351 T-C syn MT-CO1    
20100804414 6365 T-C syn MT-CO1    
20100804418 6392 T-C syn MT-CO1    
20100804419 6425 T-C syn MT-CO1    
20101004003 6614 T-C syn MT-CO1 INFERTILITY Africain
20140520004 6614 T-C Syn MT-CO1 infertile  
20100804436 6620 T-C syn MT-CO1    
20100804438 6632 T-C syn MT-CO1    
20100804441 6671 T-C syn MT-CO1    
20100804442 6680 T-C syn MT-CO1    
20100804445 6719 T-C syn MT-CO1    
20100804451 6758 T-C syn MT-CO1    
20100804452 6776 T-C syn MT-CO1    
19990316023 6827 T-C syn MT-CO1 - -
20100804456 6827 T-C syn MT-CO1    
20100804461 6911 T-C syn MT-CO1    
20100804464 6956 T-C syn MT-CO1    
20100804468 7022 T-C syn MT-CO1    
20000402001 7058 T-C syn MT-CO1 Leigh Syndrome Caucasian
20100804471 7080 T-C F-L MT-CO1    
20100804472 7094 T-C syn MT-CO1    
20040713003 7142 T-C syn MT-CO1 Oral Cancer Asian
19990316027 7175 T-C syn MT-CO1 - -
20100804476 7175 T-C syn MT-CO1    
20010828016 7220 T-C syn MT-CO1 Sporadic Parathyroid Adenoma -
20100804479 7220 T-C syn MT-CO1    
20100804485 7258 T-C I-T MT-CO1    
20100804488 7270 T-C V-A MT-CO1    
20050813004 7278 T-C F-L MT-CO1 Normal Arabs
20100804490 7278 T-C F-L MT-CO1    
20080117002 7372 T-C M-T MT-CO1 Deafness Caucasian/Africain
19990316030 7389 T-C Y-H MT-CO1 - -
20100804499 7389 T-C Y-H MT-CO1    
20100804506 7547 T-C tRNA MT-TD    
20110504001 7572 T-C tRNA MT-TD INFERTILITY Africain
20100804509 7624 T-C syn MT-CO2    
20100804510 7645 T-C syn MT-CO2    
20100804512 7691 T-C F-L MT-CO2    
20100804514 7705 T-C syn MT-CO2    
20040713008 7711 T-C syn MT-CO2 Esophageal Cancer Asian
20100804515 7711 T-C syn MT-CO2    
20100804520 7738 T-C syn MT-CO2    
20100804521 7741 T-C syn MT-CO2    
20041210007 7837 T-C syn MT-CO2 Oral Cancer Asian Indian-Marathi
20140721005 7837 T-C syn MT-CO2 Normal African
20050928001 7861 T-C syn MT-CO2 Encephalomyopathy Caucasian
20140721008 7861 T-C syn MT-CO2 Normal African
20110801008 7885 T-C syn MT-CO2 NORMAL ASIAN
20041210006 7954 T-C syn MT-CO2 Oral Cancer Asian Indian
20040713004 7961 T-C syn MT-CO2 Oral Cancer Asian
20041210014 7961 T-C syn MT-CO2 Oral Cancer Asian Indian
20100804538 7961 T-C syn MT-CO2    
20140214002 7989 T-C L-P (Leu135Pro) MT-CO2 control Caucasian
20041210012 7993 T-C syn MT-CO2 Oral Cancer Asian Indian
20041210008 7999 T-C syn MT-CO2 Oral Cancer Asian Indian-Marathi
20140721017 8047 T-C syn MT-CO2 Normal African
20100804549 8104 T-C syn MT-CO2    
20140721018 8104 T-C syn MT-CO2 Normal African
20100804550 8119 T-C syn MT-CO2    
20100804554 8167 T-C syn MT-CO2    
20100804555 8185 T-C syn MT-CO2    
20070724010 8227 T-C syn MT-CO2 Leigh Syndrome Caucasian/Africain
20080110006 8227 T-C syn MT-CO2 Leigh syndrome Caucasian
20100804558 8242 T-C syn MT-CO2    
20100804561 8258 T-C F-L MT-CO2    
20100804562 8260 T-C syn MT-CO2    
20100804563 8265 T-C L-P MT-CO2    
20100804567 8277 T-C non-coding MT-NC7    
20100804572 8286 T-C non-coding MT-NC7    
20070724012 8380 T-C syn MT-ATP8 Leigh Syndrome Caucasian/Africain
20100804578 8380 T-C syn MT-ATP8    
20040608004 8388 T-C V-A MT-ATP8 - Caucasian
20100804579 8388 T-C V-A MT-ATP8    
20100804583 8412 T-C M-T MT-ATP8    
20100804584 8426 T-C F-L MT-ATP8    
20100804586 8448 T-C M-T MT-ATP8    
20100804590 8473 T-C syn MT-ATP8    
20100804593 8503 T-C syn MT-ATP8    
20060130006 8538 T-C syn MT-ATP6 Myopathy Caucasian
20060130007 8538 T-C I-T MT-ATP8 Myopathy Caucasian
20100804597 8538 T-C I-T MT-ATP8    
20100804598 8538 T-C syn MT-ATP6    
20100804599 8542 T-C syn MT-ATP8    
20100804600 8542 T-C F-L MT-ATP6    
20050917001 8598 T-C syn MT-ATP6 Myoclonic Epilepsy Caucasian
20100804616 8598 T-C syn MT-ATP6    
20010828018 8602 T-C F-L MT-ATP6 Sporadic Parathyroid Adenoma -
20100804617 8602 T-C F-L MT-ATP6    
20100804618 8604 T-C syn MT-ATP6    
20100804619 8614 T-C syn MT-ATP6    
20100804621 8618 T-C I-T MT-ATP6    
20100804624 8634 T-C syn MT-ATP6    
20100804625 8639 T-C I-T MT-ATP6    
20050609001 8705 T-C M-T MT-ATP6 Myopathy Caucasian
20100804637 8705 T-C M-T MT-ATP6    
20100804640 8736 T-C syn MT-ATP6    
20051007007 8750 T-C L-S MT-ATP6 Myopathy Caucasian
20140630014 8760 T-C syn MT-ATP6 Temporal lobe epilepsy with hippocampal sclerosis  
20100804641 8763 T-C syn MT-ATP6    
20100804643 8772 T-C syn MT-ATP6    
20100804645 8819 T-C L-P MT-ATP6    
20050916001 8867 T-C I-T MT-ATP6 Myoclonic Epilepsy, bilateral ptosis Caucasian
20100804654 8945 T-C M-T MT-ATP6    
20000825006 8957 T-C I-T MT-ATP6 Pancreatic Cancer Caucasian
20100804657 8966 T-C I-T MT-ATP6    
20100804658 8975 T-C L-P MT-ATP6    
20100804667 9035 T-C L-P MT-ATP6    
20100804674 9068 T-C M-T MT-ATP6    
20100804677 9078 T-C syn MT-ATP6    
20100804679 9096 T-C syn MT-ATP6    
20100804680 9098 T-C I-T MT-ATP6    
20070612004 9103 T-C F-L MT-ATP6 Normal Saudi Arabs
20070327006 9111 T-C syn MT-ATP6 Leigh Syndrome Arabs
20100804686 9117 T-C syn MT-ATP6    
20100804689 9126 T-C syn MT-ATP6    
20100804690 9128 T-C I-T MT-ATP6    
20040811001 9152 T-C I-T MT-ATP6 - -
20100804694 9165 T-C syn MT-ATP6    
20100804699 9230 T-C syn MT-CO3    
20100804700 9233 T-C syn MT-CO3    
20100804711 9325 T-C M-T MT-CO3    
20050809013 9337 T-C M-T MT-CO3 Normal Arabs
20100804713 9337 T-C M-T MT-CO3    
20080117005 9467 T-C syn MT-CO3 Deafness Caucasian/Africain
20080117006 9495 T-C F-L MT-CO3 Deafness Caucasian/Africain
20031029002 9509 T-C syn MT-CO3 LHON Arabs
20030918003 9530 T-C syn MT-CO3 Liver Cancer Asian
20100804730 9540 T-C syn MT-CO3    
20110801016 9581 T-C syn MT-CO3 Mild Hearing loss Asian
20010828025 9656 T-C syn MT-CO3 Sporadic Parathyroid Adenoma -
20100804736 9656 T-C syn MT-CO3    
20100804740 9682 T-C M-T MT-CO3    
20100804742 9698 T-C syn MT-CO3    
20100804744 9716 T-C syn MT-CO3    
20100804745 9725 T-C syn MT-CO3    
20140214008 9769 T-C I-T (Ile188Thr) MT-CO3 myasthenia gravis Caucasian
20100804751 9770 T-C syn MT-CO3    
20100804752 9800 T-C syn MT-CO3    
20100804758 9845 T-C syn MT-CO3    
19991118011 9899 T-C syn MT-CO3 Control Unknown
20100804759 9899 T-C syn MT-CO3    
20100804760 9903 T-C F-L MT-CO3    
20100804762 9938 T-C syn MT-CO3    
20050813019 10031 T-C tRNA MT-TG Normal Arabs
20050813006 10034 T-C tRNA MT-TG Normal Arabs
20100804770 10034 T-C tRNA MT-TG    
20100804772 10081 T-C M-T MT-ND3    
20100804773 10084 T-C I-T MT-ND3    
20001017011 10115 T-C syn MT-ND3 Lung Cancer Caucasian
20100804779 10115 T-C syn MT-ND3    
20100804782 10124 T-C syn MT-ND3    
20100804788 10191 T-C S-P MT-ND3    
20100804791 10204 T-C V-A MT-ND3    
20100804794 10227 T-C syn MT-ND3    
20100804796 10235 T-C syn MT-ND3    
20100804797 10237 T-C I-T MT-ND3    
20050919021 10238 T-C syn MT-ND3 Normal Arabs
20100804798 10238 T-C syn MT-ND3    
20100804799 10245 T-C syn MT-ND3    
20100804800 10256 T-C syn MT-ND3    
20070327008 10265 T-C syn MT-ND3 Leigh Syndrome Arabs
20100804802 10265 T-C syn MT-ND3    
20100804807 10321 T-C V-A MT-ND3    
20110503023 10348 T-C I-T MT-ND3 Congenital Non-syndromic Deafness  
20100804812 10361 T-C syn MT-ND3    
20100804818 10410 T-C tRNA MT-TR    
20100804819 10463 T-C tRNA MT-TR    
20100804821 10493 T-C syn MT-ND4L    
20100804829 10595 T-C syn MT-ND4L    
20100804831 10601 T-C syn MT-ND4L    
20100804833 10609 T-C M-T MT-ND4L    
20091228001 10649 T-C syn MT-ND4L NSHL Caucasian
20100804837 10649 T-C syn MT-ND4L    
20001017010 10667 T-C syn MT-ND4L Lung Cancer African/American
20100804850 10790 T-C syn MT-ND4    
20001017002 10810 T-C syn MT-ND4 Lung Cancer African/American
20100804852 10810 T-C syn MT-ND4    
20040209024 10811 T-C S-P MT-ND4 Oral Cancer SINDHI
20100804857 10861 T-C syn MT-ND4    
20140214009 10866 T-C I-T (Ile36Thr) MT-ND4 myasthenia gravis Caucasian
19990316035 10873 T-C syn MT-ND4 - -
20040209002 10873 T-C syn MT-ND4 Oral Cancer Asian Indian
20100804858 10873 T-C syn MT-ND4    
20100804860 10882 T-C syn MT-ND4    
20100804861 10885 T-C syn MT-ND4    
20100804864 10907 T-C F-L MT-ND4    
20100804865 10908 T-C F-S MT-ND4    
20100804866 10915 T-C syn MT-ND4    
20100804868 10927 T-C syn MT-ND4    
20100804873 11009 T-C syn MT-ND4    
20100804874 11017 T-C syn MT-ND4    
20100804875 11025 T-C L-P MT-ND4    
20040209054 11050 T-C syn MT-ND4 Normal GUJARATI
20100804877 11050 T-C syn MT-ND4    
20140214015 11050 T-C S-S MT-ND4   Caucasian
20040209012 11075 T-C syn MT-ND4 Oral Cancer MARATHI
20100804879 11075 T-C syn MT-ND4    
20010301001 11087 T-C F-L MT-ND4 - Caucasian
20100804883 11147 T-C syn MT-ND4    
20001017008 11152 T-C syn MT-ND4 Lung Cancer Arabs
20100804884 11152 T-C syn MT-ND4    
20100804891 11204 T-C F-L MT-ND4    
20100804893 11233 T-C syn MT-ND4    
20100804896 11253 T-C I-T MT-ND4    
20091229019 11287 T-C syn MT-ND4 Breast Cancer Africain
20100804897 11287 T-C syn MT-ND4    
20100804898 11299 T-C syn MT-ND4    
20040209032 11339 T-C syn MT-ND4 Oral Cancer Asian Indian
20100804902 11339 T-C syn MT-ND4    
20100804903 11353 T-C syn MT-ND4    
20100804907 11383 T-C syn MT-ND4    
20100804908 11386 T-C syn MT-ND4    
20040317005 11399 T-C syn MT-ND4 Normal Saudi Arab
20100804915 11485 T-C syn MT-ND4    
20040209017 11506 T-C syn MT-ND4 Oral Cancer MUSLIM
20100804917 11506 T-C syn MT-ND4    
20010828029 11617 T-C syn MT-ND4 Sporadic Parathyroid Adenoma -
20100804926 11701 T-C syn MT-ND4    
19990316041 11732 T-C syn MT-ND4 - -
20100804928 11732 T-C syn MT-ND4    
20100804931 11803 T-C syn MT-ND4    
20100804932 11809 T-C syn MT-ND4    
20040209048 11827 T-C syn MT-ND4 Normal GUJARATI
20100804938 11864 T-C syn MT-ND4    
20070327009 11875 T-C syn MT-ND4 Leigh Syndrome Arabs
20040720011 11878 T-C syn MT-ND4 Breast Cancer Asian
20100804940 11878 T-C syn MT-ND4    
20040210025 11935 T-C syn MT-ND4 NAION Arabs
20100804948 11944 T-C syn MT-ND4    
20140214001 12071 T-C Phe438Pro MT-ND4 control Caucasian
20100804963 12136 T-C syn MT-ND4    
20100804964 12166 T-C tRNA MT-TH    
20100804967 12188 T-C tRNA MT-TH    
20100804971 12285 T-C tRNA MT-TL2    
20140217009 12297 T-C tRNA MT-TL2 sCJD Han Chinese
20100804975 12354 T-C syn MT-ND5    
20100804983 12396 T-C syn MT-ND5    
20100804986 12414 T-C syn MT-ND5    
20040720012 12438 T-C syn MT-ND5 Breast Cancer Asian
20100804988 12441 T-C syn MT-ND5    
20140217012 12473 T-C I-T MT-ND5 sCJD Han Chinese
20100804989 12477 T-C syn MT-ND5    
20100804993 12519 T-C syn MT-ND5    
20140731006 12581 T-C L-P MT-ND5 CAD+T2DM Asian Indian
20100805001 12599 T-C M-T MT-ND5    
20070327010 12609 T-C syn MT-ND5 Leigh Syndrome Arabs
20140731007 12611 T-C V-A MT-ND5 CAD+T2DM Asian Indian
20100805003 12616 T-C syn MT-ND5    
20140217013 12631 T-C S-P MT-ND5 sCJD Han Chinese
20100805010 12678 T-C syn MT-ND5    
20100805011 12681 T-C syn MT-ND5    
20100805014 12696 T-C syn MT-ND5    
20070327011 12714 T-C syn MT-ND5 Leigh Syndrome Arabs
20100805018 12714 T-C syn MT-ND5    
20100805020 12727 T-C syn MT-ND5    
20100805021 12732 T-C syn MT-ND5    
20100805027 12811 T-C Y-H MT-ND5    
20010828030 12879 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20100805031 12879 T-C syn MT-ND5    
20010828031 12954 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20100805036 12954 T-C syn MT-ND5    
20040713016 12957 T-C syn MT-ND5 Esophageal Cancer Asian
20100805037 12957 T-C syn MT-ND5    
20100805040 13015 T-C syn MT-ND5    
20021231002 13020 T-C syn MT-ND5 Myopathy, Diabetes, CPEO, Deafness Caucasian
20100805042 13020 T-C syn MT-ND5    
20100805049 13111 T-C syn MT-ND5    
20100805056 13215 T-C syn MT-ND5    
20100805059 13281 T-C syn MT-ND5    
20100805061 13326 T-C syn MT-ND5    
20100805062 13356 T-C syn MT-ND5    
20010828032 13392 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20010828033 13392 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20100805065 13392 T-C syn MT-ND5    
20100805066 13401 T-C syn MT-ND5    
20100805067 13404 T-C syn MT-ND5    
20100805069 13437 T-C syn MT-ND5    
20080811002 13474 T-C syn MT-ND5 Leigh Syndrome Caucasian, Jew
20040317008 13500 T-C syn MT-ND5 Normal Saudi Arab
20100805076 13500 T-C syn MT-ND5    
20100805083 13569 T-C syn MT-ND5    
20010424007 13577 T-C I-T MT-ND5 Sporadic Parathyroid Adenoma -
20100805086 13608 T-C syn MT-ND5    
20050919024 13617 T-C syn MT-ND5 Normal Arabs
20100805087 13617 T-C syn MT-ND5    
20100805088 13620 T-C syn MT-ND5    
20100805095 13656 T-C syn MT-ND5    
20110801014 13659 T-C syn MT-ND5 NORMAL ASIAN
20100805097 13665 T-C syn MT-ND5    
20100805106 13734 T-C syn MT-ND5    
20100805107 13740 T-C syn MT-ND5    
20010828036 13743 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20100805108 13743 T-C syn MT-ND5    
20040317014 13752 T-C syn MT-ND5 Normal Saudi Arab
19990316043 13789 T-C T-H MT-ND5 - -
20100805116 13789 T-C Y-H MT-ND5    
20100805119 13830 T-C syn MT-ND5    
20100805120 13879 T-C S-P MT-ND5    
20100805124 13899 T-C syn MT-ND5    
20100805132 13953 T-C syn MT-ND5    
20100805134 13965 T-C syn MT-ND5    
20100805144 14020 T-C syn MT-ND5    
20040210017 14094 T-C syn MT-ND5 NAION Arabs
20100805153 14106 T-C syn MT-ND5    
20100805154 14110 T-C F-L MT-ND5    
19990316049 14178 T-C I-V MT-ND6 - -
20100805162 14178 T-C I-V MT-ND6    
20100805164 14180 T-C Y-C MT-ND6    
20100805165 14182 T-C syn MT-ND6    
20100805166 14199 T-C T-A MT-ND6    
20100805169 14212 T-C syn MT-ND6    
20100805170 14215 T-C syn MT-ND6    
20100805179 14278 T-C syn MT-ND6    
20100805183 14325 T-C N-D MT-ND6    
20120618012 14353 T-C SYN MT-ND6 LHON Iranian
20100805188 14371 T-C syn MT-ND6    
20010424008 14386 T-C syn MT-ND6 Sporadic Parathyroid Adenoma -
20100805189 14386 T-C syn MT-ND6    
20100805194 14431 T-C syn MT-ND6    
20140217014 14457 T-C M-V MT-ND6 sCJD Han Chinese
19990324002 14470 T-C syn MT-ND6 MELAS(3243) Caucasian
20100805195 14470 T-C syn MT-ND6    
20100805197 14484 T-C M-V MT-ND6    
20100805198 14494 T-C syn MT-ND6    
20100805200 14498 T-C Y-C MT-ND6    
20100805201 14502 T-C I-V MT-ND6    
20100805202 14515 T-C syn MT-ND6    
20100805205 14530 T-C syn MT-ND6    
20100805210 14577 T-C I-V MT-ND6    
20040803001 14634 T-C M-V MT-ND6 LHON -
20100805222 14727 T-C tRNA MT-TE    
19990316051 14757 T-C M-T MT-CYB - -
20080406002 14757 T-C M-T MT-CYB Cardiomyopathy Tunisian
20100805229 14775 T-C L-P MT-CYB    
20010303005 14783 T-C L-I MT-CYB Breast Cancer Caucasian
20100805231 14783 T-C syn MT-CYB    
20100805234 14798 T-C F-L MT-CYB    
20021231012 14849 T-C S-P MT-CYB Septo-optic Dysplasia Caucasian
20100805237 14857 T-C syn MT-CYB    
20080406001 14935 T-C syn MT-CYB Cardiomyopathy Tunisian
20100805249 14956 T-C syn MT-CYB    
20100805252 15001 T-C syn MT-CYB    
20100805254 15019 T-C syn MT-CYB    
20100805261 15067 T-C syn MT-CYB    
20100805262 15071 T-C Y-H MT-CYB    
19990324003 15115 T-C syn MT-CYB Ocular Myopathy Caucasian
20100805264 15115 T-C syn MT-CYB    
20100805266 15139 T-C syn MT-CYB    
20140214004 15204 T-C I-T (Ile153Thr) MT-CYB Patient  
20090529004 15283 T-C syn MT-CYB Infertility Africain/caucasian
20100805277 15289 T-C syn MT-CYB    
20100805278 15299 T-C syn MT-CYB    
20020410003 15310 T-C syn MT-CYB Myopathy (unknown), Bilateral Ptosis Caucasian
20100805280 15310 T-C syn MT-CYB    
20100805281 15313 T-C syn MT-CYB    
20080406005 15344 T-C syn MT-CYB Cardiomyopathy Tunisian
20100805289 15394 T-C syn MT-CYB    
20140630006 15404 T-C F-L MT-CYB Temporal lobe epilepsy with hippocampal sclerosis  
20140127002 15453 T-C L-P MT-CYB isolated complex III deficiency Causacian
20100805296 15454 T-C syn MT-CYB    
20100805297 15465 T-C M-T MT-CYB    
20100805299 15471 T-C L-S MT-CYB    
20100805300 15479 T-C F-L MT-CYB    
20100805303 15511 T-C syn MT-CYB    
20100805304 15514 T-C syn MT-CYB    
20040217004 15519 T-C L-P MT-CYB Infarct Cerebri Multiplex, more Caucasian
20100805305 15519 T-C L-P MT-CYB    
20100805307 15565 T-C syn MT-CYB    
20140422017 15629 T-C Syn MT-CYB Breast cancer Senegalese
20140422026 15654 T-C M-T MT-CYB Breast cancer Senegalese
20100805315 15670 T-C syn MT-CYB    
20100805317 15693 T-C M-T MT-CYB    
19990324001 15721 T-C syn MT-CYB LHON Caucasian
20100805319 15721 T-C syn MT-CYB    
20100805324 15748 T-C syn MT-CYB    
20100805330 15784 T-C syn MT-CYB    
20140423011 15792 T-C I-T MT-CYB Breast cancer Senegalese
20100805332 15796 T-C syn MT-CYB    
20100805341 15892 T-C tRNA MT-TT    
20100805343 15900 T-C tRNA MT-TT    
20100805345 15905 T-C tRNA MT-TT    
20100805347 15908 T-C tRNA MT-TT    
20060605001 16017 T-C tRNA MT-TP Normal Indigenous group-Temuan
20030527028 16024 T-C non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528038 16025 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528013 16086 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529016 16092 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20050809019 16092 T-C non-coding Control Region Normal Arabs
20140630007 16092 T-C non-coding Control Region Temporal lobe epilepsy with hippocampal sclerosis  
20030528108 16093 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20050809020 16093 T-C non-coding Control Region Normal Arabs
20140630008 16093 T-C non-coding Control Region Temporal lobe epilepsy with hippocampal sclerosis  
20030528081 16126 T-C non-coding Control Region Oral Cancer Asian Indian- Muslim
20050919027 16126 T-C non-coding Control Region Normal Arabs
20000211006 16157 T-C noncod D-Loop - Rungus
20030527012 16172 T-C non-coding Control Region Oral Cancer Asian Indian
20100908008 16189 T-C non-coding Control Region Oral cancer Asian-Bengali
20030528083 16209 T-C non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528045 16224 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529015 16231 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528109 16298 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030215002 16304 T-C non-coding Control Region Oral Cancer Asian Indian
20050919028 16304 T-C non-coding Control Region Normal Arabs
20030215003 16311 T-C non-coding Control Region Oral Cancer Asian Indian
20100908003 16311 T-C non-coding Control Region Oral cancer Asian-Bengali
20030528148 16324 T-C non-coding Control Region Oral Cancer Asian Indian
20100908001 16325 T-C non-coding Control Region Oral cancer Indian-Bengali
20030527017 16352 T-C non-coding Control Region Oral Cancer Asian Indian
20030528157 16356 T-C non-coding Control Region Oral Cancer Asian Indian
20030528049 16362 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20050919031 16362 T-C non-coding Control Region Normal Arabs
20030528092 16418 T-C non-coding Control Region Oral Cancer Asian Indian- Gujarati
20140630015 16422 T-C non-coding Control Region Temporal lobe epilepsy with hippocampal sclerosis  
20030527018 16519 T-C non-coding Control Region Oral Cancer Asian Indian
20140630016 72 T-A non-coding Control Region Glioma  
20030529010 88 T-A non-coding Control Region Oral Cancer Asian Indian
20030527003 125 T-A non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030916001 146 T-A non-coding Control Region Liver Cancer Asian
20030528028 152 T-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030527025 154 T-A non-coding Control Region Oral Cancer Asian Indian
20030529040 155 T-A non-coding Control Region Oral Cancer Asian Indian
20030529029 157 T-A non-coding Control Region Oral Cancer Asian India
20030529020 159 T-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529013 180 T-A non-coding Control Region Oral Cancer Asian Indian
20000211002 195 T-A noncod D-Loop - Indian
20030527008 209 T-A non-coding Control Region Oral Cancer Asian Indian- Gujarati
20070527004 220 T-A non-coding Control Region Breast Cancer Caucasian
20050308005 794 T-A rRNA MT-RNR1 Deafness Africain
20100804013 825 T-A rRNA MT-RNR1    
20060913001 961 T-A rRNA MT-RNR1 Deafness Russian
20100804090 2607 T-A rRNA MT-RNR2    
20100804146 3535 T-A L-M MT-ND1    
19990218007 3552 T-A syn MT-ND1 LHON Hispanic
20100804212 4172 T-A L-Q MT-ND1    
20120618004 4539 T-A S-T MT-ND2 LHON Iranian
20140729012 4573 T-A M-K MT-ND2 CAD+T2DM Asian Indian
20120618002 4941 T-A S-T MT-ND2 LHON Iranian
20100930001 6221 T-A syn MT-CO1 infertility African
20140520001 6221 T-A Syn MT-CO1 infertile  
20060515002 6641 T-A syn MT-CO1 Progeria Caucasian
20100906003 7806 T-A V-D MT-CO2 Breast cancer  
19990316032 8205 T-A M-K MT-CO2 - -
20100804632 8696 T-A M-K MT-ATP6    
20050919033 8877 T-A F-L MT-ATP6 Normal Arabs
20100804650 8895 T-A N-K MT-ATP6    
20100804710 9316 T-A F-Y MT-CO3    
20100804757 9840 T-A S-T MT-CO3    
20090129014 9987 T-A S-T MT-CO3 COPD Caucasian
20040713014 10282 T-A L-Q MT-ND3 Esophageal Cancer Asian
20100804817 10410 T-A tRNA MT-TR    
20050813008 10883 T-A F-I MT-ND4 Normal Arabs
20050813009 10885 T-A F-L MT-ND4 Normal Arabs
20040209039 11070 T-A I-N MT-ND4 Oral Cancer MARATHI
20051225001 11260 T-A syn MT-ND4 LHON Caucasian
20060122001 11260 T-A syn MT-ND4 Mitochondrial Myopathy Caucasian
20100804959 12083 T-A S-T MT-ND4    
20100805017 12706 T-A F-I MT-ND5    
20120618001 12851 T-A V-I MT-ND5 LHON Iranian
20120618017 13255 T-A S-T MT-ND5 LHON Iranian
20100805140 14000 T-A L-Q MT-ND5    
20100805196 14470 T-A syn MT-ND6    
20140731013 15785 T-A F-I MT-CYB CAD+T2DM Asian Indian
20030529033 16102 T-A non-coding Control Region Oral Cancer Asian Indian
20000915003 16157 T-A noncod D-Loop - Murut
20040701010 16189 T-A non-coding Control Region Normal Mestizo
20080730003 16189 T-A noncod D-Loop - Chinese Han ethnic group
20030528019 16568 T-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20120125001 14935 no AA change     diabetes myopathy and hearing impairement africain
20030529001 53 G-T non-coding Control Region Oral Cancer Asian Indian- Bihari
20110503003 1462 G-T rRNA MT-RNR1 Congenital Non-syndromic Deafness  
20140729007 2435 G-T rRNA MT-RNR2 CAD+T2DM Asian Indian
20110503006 3438 G-T syn MT-ND1 Congenital Non-syndromic Deafness  
20100804262 4770 G-T A-S MT-ND2    
20010828014 6570 G-T A-S MT-CO1 Sporadic Parathyroid Adenoma -
20050809006 7521 G-T tRNA MT-TD Normal Arabs
20100804620 8616 G-T L-F MT-ATP6    
19990316033 8857 G-T G-C MT-ATP6 - -
20100805045 13042 G-T A-S MT-ND5    
20030529024 16099 G-T non-coding Control Region Oral Cancer Asian Indian
20030527011 16110 G-T non-coding Control Region Oral Cancer Asian Indian
20030528076 16274 G-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20100908002 16391 G-T non-coding Control Region Oral cancer Indian-Bengali
20030529026 16518 G-T non-coding Control Region Oral Cancer Asian Indian
20030528020 16569 G-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529017 34 G-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20120907009 67 G-C noncod D-Loop   European
20030529046 79 G-C non-coding Control Region Oral Cancer Asian Indian
20030529047 81 G-C non-coding Control Region Oral Cancer Asian Indian
20030528023 85 G-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528069 97 G-C non-coding Control Region Oral Cancer Asian Indian- Muslim
20030529048 121 G-C non-coding Control Region Oral Cancer Asian Indian
20030527038 228 G-C non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528085 260 G-C non-coding Control Region Oral Cancer Asian Indian- Muslim
20081112001 930 G-C noncod MT-RNR1 Normal Yakut
20100804268 4812 G-C V-L MT-ND2    
20040713009 7910 G-C E-Q MT-CO2 Esophageal Cancer Asian
20040713012 7912 G-C E-D MT-CO2 Esophageal Cancer Asian
20100804627 8648 G-C R-P MT-ATP6    
20100804671 9055 G-C A-P MT-ATP6    
20050928002 10230 G-C V-L MT-ND3 Optic Neuropathy, visual loss Caucasian
20120124008 10373 G-C syn MT-ND3 Normal Indonesian
20100805070 13466 G-C S-T MT-ND5    
20100805127 13928 G-C S-T MT-ND5    
20111212001 14705 G-C tRNA MT-TE Diabetes, Myopathy,Hearing impairment  
20111214001 14835 G-C W-S MT-CYB Diabetes, Myopathy, hearing impairment Africain
20100805318 15708 G-C S-T MT-CYB    
20100805339 15884 G-C A-P MT-CYB    
20030428001 47 G-A non-coding Control Region Normal Kazhakh
20030528123 66 G-A non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030428002 75 G-A non-coding Control Region Normal Kazhakh
20030528022 81 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528024 94 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528129 103 G-A non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528025 109 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528151 124 G-A non-coding Control Region Oral Cancer Asian Indian
20030529038 136 G-A non-coding Control Region Oral Cancer Asian Indian
20030529039 143 G-A non-coding Control Region Oral Cancer Asian Indian
20140214018 203 G-A non-coding Control Region   Caucasian
20030528057 229 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20040713010 251 G-A non-coding Control Region Esophageal Cancer Asian
20040720001 251 G-A non-coding Control Region Breast Cancer Asian
20040720002 260 G-A non-coding Control Region Breast Cancer Asian
20000211005 329 G-A noncod D-Loop - Malay
20100905001 366 G-A non-coding Control Region Oral squamous cell carcinoma  
20130520003 526 G-A non-coding Control Region    
20100804005 709 G-A rRNA MT-RNR1    
20110302003 719 G-A rRNA MT-RNR1 combined complex I + IV deficiency  
20100804011 769 G-A rRNA MT-RNR1    
20140721003 780 G-A rRNA MT-RNR1 Normal African
20111230002 786 G-A rRNA MT-RNR1 progressive non syndromic hearing loss Caucasian
20100804016 930 G-A rRNA MT-RNR1    
20100804017 951 G-A rRNA MT-RNR1    
20010828003 1007 G-A noncod MT-RNR1 Sporadic Parathyroid Adenoma -
20100804024 1007 G-A rRNA MT-RNR1    
20050919004 1018 G-A rRNA MT-RNR1 Normal Arabs
20100804026 1018 G-A rRNA MT-RNR1    
20161022001 1147 G-A noncod RNR1 hearing loss Iranian
19990308002 1462 G-A noncod MT-RNR1 Diabetes/Deafness -
20081106001 1462 G-A noncod MT-RNR1 Non-Syndromic Hearing Impairment (NSHI) Hindu
20100804037 1462 G-A rRNA MT-RNR1    
20100804038 1503 G-A rRNA MT-RNR1    
20100804041 1598 G-A rRNA MT-RNR1    
20100804042 1664 G-A tRNA MT-TV    
20100804045 1709 G-A rRNA MT-RNR2    
20041220005 1719 G-A rRNA MT-RNR2 Oral Cancer Asian Indian-Muslim
20100804047 1719 G-A rRNA MT-RNR2    
20110302022 1767 G-A rRNA MT-RNR2 complex I deficiency  
20110302018 1886 G-A rRNA MT-RNR2 combined complex I + IV deficiency, Mitochondrial Myopathy  
20100804059 1888 G-A rRNA MT-RNR2    
20100804064 2098 G-A rRNA MT-RNR2    
20041220014 2361 G-A rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20100804081 2361 G-A rRNA MT-RNR2    
20100804091 2702 G-A rRNA MT-RNR2    
20100804096 2758 G-A rRNA MT-RNR2    
20100804102 2831 G-A rRNA MT-RNR2    
20100804109 3010 G-A rRNA MT-RNR2    
20100804114 3173 G-A rRNA MT-RNR2    
20030912001 3242 G-A tRNA MT-TL1 Myelodysplastic Syndrome (MDS) Caucasian
20140214021 3242 G-A tRNA MT-TL1 CPEO Caucasian
20140214022 3244 G-A tRNA MT-TL1 CPEO Caucasian
20090315002 3316 G-A A-T MT-ND1 Uterine Leiomyomas Asian Indian
20100804125 3316 G-A A-T MT-ND1    
20101129004 3316 G-A A-T MT-ND1 Nonsyndromic Hearing Loss FARS
20090315009 3352 G-A A-T MT-ND1 Uterine Leiomyomas Asian Indian
20090315007 3376 G-A E-K MT-ND1 Uterine Leiomyomas Asian Indian
20090315008 3380 G-A R-Q MT-ND1 Uterine Leiomyomas Asian Indian
20090315006 3421 G-A V-I MT-ND1 Uterine Leiomyomas Asian Indian
20100804140 3460 G-A A-T MT-ND1    
20100804142 3483 G-A syn MT-ND1    
20040210001 3531 G-A syn MT-ND1 NAION Arabs
20100804145 3531 G-A syn MT-ND1    
20010828008 3591 G-A P-L MT-ND1 Sporadic Parathyroid Adenoma -
20100804151 3591 G-A syn MT-ND1    
20000825017 3635 G-A S-N MT-ND1 Pancreatic Cancer Caucasian
19990316010 3666 G-A syn MT-ND1 - -
20100804155 3666 G-A syn MT-ND1    
20000825018 3670 G-A A-T MT-ND1 Pancreatic Cancer Caucasian
20000825019 3670 G-A A-T MT-ND1 Pancreatic Cancer Caucasian
19990316011 3693 G-A syn MT-ND1 - -
20100804158 3693 G-A syn MT-ND1    
20100804162 3736 G-A V-I MT-ND1    
20040210004 3834 G-A syn MT-ND1 NAION Arabs
20100804174 3834 G-A syn MT-ND1    
20100804176 3849 G-A syn MT-ND1    
20100804180 3882 G-A syn MT-ND1    
20100804182 3915 G-A syn MT-ND1    
20110701001 3959 G-A G-D MT-ND1    
20140729011 3959 G-A G-D MT-ND1 CAD+T2DM Asian Indian
20100804199 4048 G-A D-N MT-ND1    
20040210007 4092 G-A syn MT-ND1 NAION Arabs
20100804208 4113 G-A syn MT-ND1    
20100804231 4491 G-A V-I MT-ND2    
20091229005 4512 G-A A-T MT-ND2 Breast Cancer Caucasian
20100804238 4580 G-A syn MT-ND2    
20120618015 4596 G-A V-I MT-ND2 LHON Iranian
20100804243 4643 G-A syn MT-ND2    
20100804245 4659 G-A A-T MT-ND2    
20000825003 4820 G-A syn MT-ND2 Pancreatic Cancer Caucasian
20100804270 4820 G-A syn MT-ND2    
20100804276 4924 G-A S-N MT-ND2    
20100804284 4991 G-A syn MT-ND2    
19990316014 5046 G-A V-I MT-ND2 - -
20100804292 5046 G-A V-I MT-ND2    
19990316015 5054 G-A syn MT-ND2 - -
20100804294 5054 G-A syn MT-ND2    
20100804300 5147 G-A syn MT-ND2    
20100804304 5177 G-A syn MT-ND2    
20100804309 5231 G-A syn MT-ND2    
20100804311 5237 G-A syn MT-ND2    
20100804314 5262 G-A A-T MT-ND2    
20050813016 5460 G-A A-T MT-ND2 Normal Arabs
20100804334 5460 G-A A-T MT-ND2    
20010301004 5471 G-A syn MT-ND2 - Caucasian
20100804337 5471 G-A syn MT-ND2    
20070724006 5556 G-A non-coding MT-TW Leigh Syndrome Caucasian/Africain
20080520003 5585 G-A noncod MT-NC3 Ophthalmoparesis, single eye ptosis Asian
20100804352 5585 G-A non-coding MT-NC3    
20100804359 5746 G-A non-coding MT-OLR    
20100804360 5773 G-A tRNA MT-TC    
20100804367 5821 G-A tRNA MT-TC    
20050919019 5913 G-A D-N MT-CO1 Normal Arabs
20100804373 5913 G-A D-N MT-CO1    
20100804376 5973 G-A A-T MT-CO1    
20100804377 5979 G-A A-T MT-CO1    
20100804378 5985 G-A V-I MT-CO1    
20100804381 6023 G-A syn MT-CO1    
20010828013 6026 G-A syn MT-CO1 Sporadic Parathyroid Adenoma -
20100804389 6150 G-A V-I MT-CO1    
20090129003 6179 G-A syn MT-CO1 COPD Caucasian
20100804394 6182 G-A syn MT-CO1    
20100804398 6239 G-A syn MT-CO1    
20100804399 6249 G-A A-T MT-CO1    
20100804400 6257 G-A syn MT-CO1    
20100804401 6260 G-A syn MT-CO1    
20100804402 6261 G-A A-T MT-CO1    
20100804403 6267 G-A A-T MT-CO1    
20100804407 6285 G-A V-I MT-CO1    
20100804415 6366 G-A V-I MT-CO1    
20090129005 6383 G-A syn MT-CO1 COPD Caucasian
20100804417 6383 G-A syn MT-CO1    
20100804420 6446 G-A syn MT-CO1    
20100804423 6465 G-A V-I MT-CO1    
20100804425 6480 G-A V-I MT-CO1    
20140730003 6576 G-A G-Term MT-CO1 CAD+T2DM Asian Indian
20100804446 6722 G-A syn MT-CO1    
20100804448 6734 G-A syn MT-CO1    
20100804450 6755 G-A syn MT-CO1    
20100804460 6899 G-A syn MT-CO1    
20100804462 6915 G-A V-M MT-CO1    
20100804467 7013 G-A syn MT-CO1    
20100804473 7119 G-A D-N MT-CO1    
20100804480 7226 G-A syn MT-CO1    
20100804487 7269 G-A V-M MT-CO1    
20100804492 7316 G-A syn MT-CO1    
20100804493 7337 G-A syn MT-CO1    
20100804494 7340 G-A syn MT-CO1    
20100804495 7356 G-A V-M MT-CO1    
20100804497 7379 G-A syn MT-CO1    
20110503018 7379 G-A syn MT-CO1 Congenital Non-syndromic Deafness  
20140214013 7453 G-A tRNA MT-TS1 Melas-like  
20100804505 7521 G-A tRNA MT-TD    
20100804513 7697 G-A V-I MT-CO2    
20041210003 7702 G-A syn MT-CO2 Oral Cancer Asian Indian-Marathi
20100804522 7754 G-A D-N MT-CO2    
20041210013 7762 G-A syn MT-CO2 Oral Cancer Asian Indian
20130303001 7762 G-A syn MT-CO2 Normal African
20110503019 7763 G-A E-K MT-CO2 Congenital Non-syndromic Deafness  
20100804527 7789 G-A syn MT-CO2    
20100804528 7805 G-A V-I MT-CO2    
20140721006 7805 G-A V-I MT-CO2 Normal African
20100804529 7830 G-A R-H MT-CO2    
20100804531 7853 G-A V-I MT-CO2    
20140630002 7853 G-A V-I MT-CO2 Temporal lobe epilepsy with hippocampal sclerosis  
20140721007 7853 G-A V-I MT-CO2 Normal African
20100804532 7859 G-A D-N MT-CO2    
20100804535 7897 G-A syn MT-CO2    
20140721009 7912 G-A syn MT-CO2 Normal African
20140721011 7984 G-A syn MT-CO2 Normal African
20140721012 8007 G-A A-G MT-CO2 Normal African
20100804543 8020 G-A syn MT-CO2    
20140721015 8020 G-A syn MT-CO2 Normal African
20100804544 8027 G-A A-T MT-CO2    
20140721016 8027 G-A A-T MT-CO2 Normal African
20100804547 8065 G-A syn MT-CO2    
20110704003 8078 G-A V-I MT-CO2 non-syndromic deafness  
20110503020 8115 G-A G-E MT-CO2 Congenital Non-syndromic Deafness  
20140721019 8152 G-A syn MT-CO2 Normal African
20140721020 8155 G-A syn MT-CO2 Normal African
20140721021 8188 G-A syn MT-CO2 Normal African
20041210010 8206 G-A syn MT-CO2 Oral Cancer Asian Indian
20100804557 8206 G-A syn MT-CO2    
20041210002 8251 G-A syn MT-CO2 Oral Cancer Asian Indian-Bengali
20100804560 8251 G-A syn MT-CO2    
20100804564 8269 G-A syn MT-CO2    
20100804574 8292 G-A non-coding MT-NC7    
20100804580 8392 G-A syn MT-ATP8    
20100804591 8485 G-A syn MT-ATP8    
19990308001 8519 G-A E-K MT-ATP8 MELAS plus other symptoms -
20100804596 8519 G-A E-K MT-ATP8    
20071014001 8529 G-A W-Ter MT-ATP8 Apical HCM .
20071014002 8529 G-A syn MT-ATP6 . .
20100804601 8545 G-A syn MT-ATP8    
20100804602 8545 G-A A-T MT-ATP6    
20100804603 8557 G-A syn MT-ATP8    
20100804604 8557 G-A A-T MT-ATP6    
20060130004 8573 G-A G-D MT-ATP6 Encephalopathy Caucasian
20100804614 8581 G-A A-T MT-ATP6    
19990308004 8584 G-A A-T MT-ATP6 DIDMOAD Asian
20050809010 8587 G-A V-M MT-ATP6 Normal Arabs
20100804615 8592 G-A syn MT-ATP6    
20100804633 8697 G-A syn MT-ATP6    
20040210014 8865 G-A syn MT-ATP6 NAION Arabs
20100804648 8865 G-A syn MT-ATP6    
20100804651 8920 G-A G-S MT-ATP6    
20100804655 8950 G-A V-I MT-ATP6    
20120418001 8969 G-A S-N MT-ATP6    
20100804661 8994 G-A syn MT-ATP6    
20100804666 9022 G-A A-T MT-ATP6    
20100804668 9039 G-A syn MT-ATP6    
19990511001 9053 G-A syn MT-ATP6 Normal Chinese
19991118005 9055 G-A A-T MT-ATP6 Subfertile Unknown
20100804670 9055 G-A A-T MT-ATP6    
20100804673 9064 G-A A-T MT-ATP6    
20100804688 9123 G-A syn MT-ATP6    
20100804692 9139 G-A A-T MT-ATP6    
19991118004 9150 G-A syn MT-ATP6 Control Unknown
20040811002 9163 G-A V-I MT-ATP6 - -
20040713013 9182 G-A S-N MT-ATP6 Esophageal Cancer Asian
20100804696 9196 G-A D-N MT-ATP6    
20100804702 9266 G-A syn MT-CO3    
20100804705 9287 G-A syn MT-CO3    
20030925001 9300 G-A A-T MT-CO3 Myopathy Caucasian
20100804708 9300 G-A A-T MT-CO3    
20080117004 9329 G-A syn MT-CO3 Deafness Caucasian/Africain
19991118010 9377 G-A syn MT-CO3 Subfertile Unknown
19990323001 9380 G-A syn MT-CO3 Myopathy Caucasian
19991118009 9380 G-A syn MT-CO3 Subfertile Unknown
20100804719 9380 G-A syn MT-CO3    
20070612005 9438 G-A G-S MT-CO3 Normal Saudi Arabs
20100804725 9438 G-A G-S MT-CO3    
19991118006 9477 G-A V-I MT-CO3 Control unknown
19991118007 9477 G-A V-I MT-CO3 Subfertile Unknown
20050919034 9477 G-A V-I MT-CO3 Normal Arabs
20100804727 9477 G-A V-I MT-CO3    
19991118008 9548 G-A syn MT-CO3 Subfertile unknown
20100804732 9548 G-A syn MT-CO3    
20100804733 9575 G-A syn MT-CO3    
20100804734 9591 G-A V-I MT-CO3    
20070527003 9621 G-A A-T MT-CO3 Breast Cancer Caucasian
20100804746 9738 G-A A-T MT-CO3    
20100804748 9753 G-A E-K MT-CO3    
20100804749 9755 G-A syn MT-CO3    
20100804753 9801 G-A V-M MT-CO3    
20100804754 9804 G-A A-T MT-CO3    
20100804761 9932 G-A syn MT-CO3    
20100804763 9947 G-A syn MT-CO3    
20100804764 9948 G-A V-I MT-CO3    
20100804765 9962 G-A syn MT-CO3    
20100804766 9966 G-A V-I MT-CO3    
20100804767 9986 G-A syn MT-CO3    
20070327007 10098 G-A A-T MT-ND3 Deafness Arabs
20050809015 10143 G-A G-S MT-ND3 Normal Arabs
20100804787 10172 G-A syn MT-ND3    
20100804805 10310 G-A syn MT-ND3    
20100804806 10320 G-A V-I MT-ND3    
20010828026 10325 G-A syn MT-ND3 Sporadic Parathyroid Adenoma -
20100804809 10325 G-A syn MT-ND3    
20100804813 10373 G-A syn MT-ND3    
20010424004 10522 G-A G-E MT-ND4L Sporadic Parathyroid Adenoma -
20100804827 10586 G-A syn MT-ND4L    
20100804828 10589 G-A syn MT-ND4L    
20100804836 10646 G-A syn MT-ND4L    
20050809016 10668 G-A A-T MT-ND4L Normal Arabs
20140730007 10668 G-A A-T MT-ND4L CAD+T2DM Asian Indian
20081022001 10680 G-A A-T MT-ND4L LHON Han Chinese
20100804841 10680 G-A A-T MT-ND4L    
20100804842 10685 G-A syn MT-ND4L    
20001017003 10688 G-A syn MT-ND4L Lung Cancer African/American
20100804843 10688 G-A syn MT-ND4L    
19990316038 11016 G-A S-N MT-ND4 - -
20040209003 11016 G-A S-N MT-ND4 Oral Cancer Asian Indian
20001017006 11176 G-A syn MT-ND4 Lung Cancer African/American
20100804888 11176 G-A syn MT-ND4    
20100804904 11377 G-A syn MT-ND4    
20040317006 11440 G-A syn MT-ND4 Normal Saudi Arab
20100804909 11440 G-A syn MT-ND4    
20100804910 11447 G-A V-M MT-ND4    
20040209023 11518 G-A syn MT-ND4 Oral Cancer MALAYALI
20010303008 11696 G-A V-I MT-ND4 Breast Cancer Caucasian
20100804925 11696 G-A V-I MT-ND4    
20040209005 11719 G-A syn MT-ND4 Oral Cancer Asian Indian
20100804927 11719 G-A syn MT-ND4    
20100804929 11778 G-A R-H MT-ND4    
20100804937 11852 G-A A-T MT-ND4    
20040317009 11887 G-A syn MT-ND4 Normal Saudi Arab
20100804941 11887 G-A syn MT-ND4    
20040209021 11914 G-A syn MT-ND4 Oral Cancer MARATHI
20100804943 11914 G-A syn MT-ND4    
20040209022 11969 G-A A-T MT-ND4 Oral Cancer MARATHI
20100804951 11969 G-A A-T MT-ND4    
20040209007 12007 G-A syn MT-ND4 Oral Cancer Bengali
20100804953 12007 G-A syn MT-ND4    
20100804957 12070 G-A syn MT-ND4    
20100804961 12127 G-A syn MT-ND4    
20100804968 12192 G-A tRNA MT-TH    
20060227001 12207 G-A tRNA MT-TS2 Mixed MELAS/MERRF Chinese mother and Caucasian father
20110704004 12236 G-A tRNA MT-TS2 non-syndromic deafness  
20110302017 12256 G-A tRNA MT-TS2 combined complex I + IV deficiency, Mitochondrial Myopathy  
20010424005 12372 G-A syn MT-ND5 Sporadic Parathyroid Adenoma -
20100804979 12372 G-A syn MT-ND5    
20140217008 12372 G-A L-L MT-ND5 sCJD Han Chinese
20100804985 12406 G-A V-I MT-ND5    
20100804992 12501 G-A syn MT-ND5    
20100804998 12561 G-A syn MT-ND5    
20100805004 12618 G-A syn MT-ND5    
20061011001 12622 G-A V-I MT-ND5 Leigh Syndrome Caucasian
20040720013 12630 G-A syn MT-ND5 Breast Cancer Asian
20100805008 12651 G-A syn MT-ND5    
20100805012 12684 G-A syn MT-ND5    
20100805025 12771 G-A syn MT-ND5    
20100805051 13135 G-A A-T MT-ND5    
20100805052 13145 G-A S-N MT-ND5    
20100805057 13225 G-A D-N MT-ND5    
20100805063 13359 G-A syn MT-ND5    
20100805064 13368 G-A syn MT-ND5    
20100805073 13477 G-A A-T MT-ND5    
20140214017 13513 G-A D-N (Asp393Asn) MT-ND5 Leigh syndrome  
20100805085 13590 G-A syn MT-ND5    
20100805102 13707 G-A syn MT-ND5    
20010828035 13708 G-A A-T MT-ND5 Sporadic Parathyroid Adenoma -
20050813021 13708 G-A A-T MT-ND5 Normal Arabs
20100805103 13708 G-A A-T MT-ND5    
20100805109 13759 G-A A-T MT-ND5    
20070612008 13813 G-A V-I MT-ND5 Normal Saudi Arabs
20100805123 13889 G-A C-Y MT-ND5    
20100805126 13928 G-A S-N MT-ND5    
20100805139 13980 G-A syn MT-ND5    
20100805143 14016 G-A syn MT-ND5    
20100805146 14040 G-A syn MT-ND5    
20040720016 14207 G-A T-I MT-ND6 Breast Cancer Caucasian
20040726001 14207 G-A T-I MT-ND6 LHON Caucasian
20100805168 14207 G-A T-I MT-ND6    
20040803003 14249 G-A A-V MT-ND6 LHON -
20100805174 14249 G-A A-V MT-ND6    
20100805175 14258 G-A P-L MT-ND6    
20110314002 14258 G-A P-L MT-ND6 LHON Caucasion
20100805181 14305 G-A syn MT-ND6    
20100805182 14323 G-A syn MT-ND6    
20010828038 14364 G-A syn MT-ND6 Sporadic Parathyroid Adenoma -
20100805185 14364 G-A syn MT-ND6    
20100805191 14410 G-A syn MT-ND6    
20100805206 14560 G-A syn MT-ND6    
20100805208 14569 G-A syn MT-ND6    
20140127001 14721 G-A tRNA MT-TE isolated complex IV deficiency Causacian
20050813022 14831 G-A A-T MT-CYB Normal Arabs
20100805238 14858 G-A G-S MT-CYB    
20100805239 14861 G-A A-T MT-CYB    
20100805241 14869 G-A syn MT-CYB    
20040210019 14905 G-A syn MT-CYB NAION Arabs
20100805245 14905 G-A syn MT-CYB    
20110421003 15002 G-A G-S MT-CYB   Hispanic Father, Caucasian Mother
20100805258 15043 G-A syn MT-CYB    
20000825016 15045 G-A R-Q MT-CYB Pancreatic Cancer Caucasian
20110704005 15077 G-A E-K MT-CYB non-syndromic deafness  
20100805263 15110 G-A A-T MT-CYB    
20010828039 15148 G-A syn MT-CYB Sporadic Parathyroid Adenoma -
20100805267 15148 G-A syn MT-CYB    
20100805268 15172 G-A syn MT-CYB    
20100805270 15217 G-A syn MT-CYB    
20100805273 15221 G-A D-N MT-CYB    
20010301005 15257 G-A D-N MT-CYB Breast Cancer Caucasian
20050813023 15257 G-A D-N MT-CYB Normal Arabs
20100805276 15257 G-A D-N MT-CYB    
20100805279 15301 G-A syn MT-CYB    
20100805282 15314 G-A A-T MT-CYB    
20030918008 15323 G-A A-T MT-CYB Liver Cancer Asian
20100805286 15346 G-A syn MT-CYB    
20100805287 15355 G-A syn MT-CYB    
20100805298 15466 G-A syn MT-CYB    
20140422011 15596 G-A V-I MT-CYB Breast cancer Senegalese
20140422013 15614 G-A G-S MT-CYB Breast cancer Senegalese
20050813025 15617 G-A V-I MT-CYB Normal Arabs
20100805311 15617 G-A V-I MT-CYB    
20140422014 15619 G-A Syn MT-CYB Breast cancer Senegalese
20100805321 15731 G-A A-T MT-CYB    
20000825008 15734 G-A A-T MT-CYB Pancreatic Cancer Caucasian
20100805322 15734 G-A A-T MT-CYB    
20100805323 15737 G-A D-N MT-CYB    
20140217017 15765 G-A G-E MT-CYB sCJD Han Chinese
20100805327 15773 G-A V-M MT-CYB    
20100805333 15803 G-A V-M MT-CYB    
20100805334 15812 G-A V-M MT-CYB    
20100805338 15884 G-A A-T MT-CYB    
20100805342 15894 G-A tRNA MT-TT    
20100805349 15927 G-A tRNA MT-TT    
20050813013 15928 G-A tRNA MT-TT Normal Arabs
20100805350 15928 G-A tRNA MT-TT    
20100805351 15930 G-A tRNA MT-TT    
20030527029 16033 G-A non-coding Control Region Oral Cancer Asian Indian- Bengali
20030527030 16034 G-A non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528039 16035 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528044 16129 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528103 16145 G-A non-coding Control Region Oral Cancer Asian Indian
20101227005 16145 G-A non-coding Control Region Oral cancer Asian-Bengali
20030529014 16213 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030527015 16274 G-A non-coding Control Region Oral Cancer Asian Indian
20030527016 16319 G-A non-coding Control Region Oral Cancer Asian Indian
20030528150 16390 G-A non-coding Control Region Oral Cancer Asian Indian
20030529035 16391 G-A non-coding Control Region Oral Cancer Asian Indian
20140214006 16428 G-A non-coding Control Region isolated complex IV deficiency Caucasian
20030528121 16438 G-A non-coding Control Region Oral Cancer Asian Indian- Gujarati
20070527002 16504 G-A non-coding Control Region Breast Cancer Caucasian
20030528070 98 C-T non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528131 114 C-T non-coding Control Region Oral Cancer Asian Indian- Sindhi
20010303003 147 C-T noncod D-Loop Breast Cancer Caucasian
20030527005 150 C-T non-coding Control Region Oral Cancer Asian Indian
20030528030 151 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20021231008 186 C-T noncod D-Loop Normal Madia Gond tribe
20050106002 262 C-T non-coding Control Region Normal Caucasian
20050106003 269 C-T non-coding Control Region Normal Caucasian
20010828002 285 C-T noncod D-Loop Sporadic Parathyroid Adenoma -
20050106005 324 C-T non-coding Control Region Normal Caucasian
19990218006 340 C-T noncod D-Loop Hearing Loss Caucasian
20140729003 369 C-T non-coding Control Region CAD+T2DM Asian Indian
20000914001 463 C-T noncod D-Loop - -
20040713011 481 C-T non-coding Control Region Esophageal Cancer Asian
20040720003 481 C-T non-coding Control Region Breast Cancer Asian
20140214007 496 C-T non-coding Control Region   Caucasian
20130520002 522 C-T non-coding Control Region   S\xE3o Paulo
20040720004 530 C-T non-coding Control Region Breast Cancer Asian
20000914003 560 C-T noncod D-Loop - Kadazan-Dusun
20110302004 739 C-T rRNA MT-RNR1 combined complex I+IV defiency  
20050308002 868 C-T rRNA MT-RNR1 Normal Africain
20050308001 954 C-T rRNA MT-RNR1 Normal Africain
20110302005 1009 C-T rRNA MT-RNR1 combined complex I + IV defiency  
20081106002 1508 C-T noncod MT-RNR1 Non-Syndromic Hearing Impairment (NSHI) Hindu
20100804040 1537 C-T rRNA MT-RNR1    
20071219004 1556 C-T rRNA MT-RNR1 Normal Caucasian
20101129001 1556 C-T rRNA MT-RNR1 Nonsyndromic Hearing Loss Turkish
20010301006 1703 C-T noncod MT-RNR2 Breast Cancer Caucasian
20060130005 1703 C-T rRNA MT-RNR2 Mental Retardation Caucasian
20100804046 1711 C-T rRNA MT-RNR2    
20041220007 1713 C-T rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220009 1715 C-T rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20100804048 1720 C-T rRNA MT-RNR2    
20050919007 1721 C-T rRNA MT-RNR2 Normal Arabs
20100804049 1721 C-T rRNA MT-RNR2    
20100804067 2217 C-T rRNA MT-RNR2    
20010828005 2218 C-T noncod MT-RNR2 Sporadic Parathyroid Adenoma -
20100804068 2225 C-T rRNA MT-RNR2    
20100804072 2259 C-T rRNA MT-RNR2    
20100804074 2272 C-T rRNA MT-RNR2    
20100804075 2280 C-T rRNA MT-RNR2    
20100804076 2282 C-T rRNA MT-RNR2    
20100804077 2283 C-T rRNA MT-RNR2    
20041220016 2396 C-T rRNA MT-RNR2 Oral Cancer Asian Indian
20140630001 2523 C-T rRNA MT-RNR2 Temporal lobe epilepsy with hippocampal sclerosis  
20100804098 2772 C-T rRNA MT-RNR2    
20100804100 2789 C-T rRNA MT-RNR2    
19990316007 3116 C-T noncod MT-RNR2 - -
20041220015 3116 C-T rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20100804113 3116 C-T rRNA MT-RNR2    
19990316008 3184 C-T noncod MT-RNR2 - -
20100804119 3204 C-T rRNA MT-RNR2    
20021231003 3206 C-T noncod MT-RNR2 MELAS Caucasian
20100804121 3212 C-T rRNA MT-RNR2    
20060518004 3342 C-T syn MT-ND1 - Caucasian
20011206001 3351 C-T syn MT-ND1 Unknown cardio-facio-cutaneous syndrome Caucasian
20090315003 3442 C-T syn MT-ND1 Uterine Leiomyomas Asian Indian
20110503009 3486 C-T syn MT-ND1 Congenital Non-syndromic Deafness  
20040217001 3507 C-T syn MT-ND1 - Caucasian
20041107006 3516 C-T syn MT-ND1 Type 2 Diabetes Mellitus Mongolia
20040809001 3528 C-T syn MT-ND1 Myopathy Chinese-China
20040713001 3571 C-T L-F MT-ND1 Oral Cancer Asian
19990316009 3594 C-T syn MT-ND1 - -
20040210002 3594 C-T syn MT-ND1 NAION Arabs
20100804152 3594 C-T syn MT-ND1    
20040317012 3597 C-T syn MT-ND1 Normal Saudi Arab
20090714006 3609 C-T no MT-ND1 Aminoglycoside-induced hearing loss Caucasian
20100804154 3654 C-T syn MT-ND1    
20100804157 3687 C-T syn MT-ND1    
20091229001 3710 C-T A-V MT-ND1 Breast Cancer Caucasian
20100804163 3738 C-T syn MT-ND1    
20020409001 3741 C-T syn MT-ND1 MELAS Caucasian
20020410001 3741 C-T syn MT-ND1 MELAS Caucasian
20100804164 3741 C-T syn MT-ND1    
20100804165 3747 C-T syn MT-ND1    
20110503011 3783 C-T syn MT-ND1 Congenital Non-syndromic Deafness  
20091229004 3846 C-T syn MT-ND1 Breast Cancer Amerindian
20100804179 3874 C-T syn MT-ND1    
20110503012 3894 C-T syn MT-ND1 Congenital Non-syndromic Deafness  
20100804184 3969 C-T syn MT-ND1    
20100804185 3990 C-T syn MT-ND1    
20000825009 3992 C-T T-M MT-ND1 Pancreatic Cancer Caucasian
20100804186 3992 C-T T-M MT-ND1    
20080414003 4017 C-T syn MT-ND1 Hypertrophic Cardiomyopathy Caucasian
20100804191 4017 C-T syn MT-ND1    
20100804192 4020 C-T syn MT-ND1    
20100804195 4025 C-T T-M MT-ND1    
20101209002 4032 C-T syn MT-ND1 Cardiomyopathy  
20100804202 4086 C-T syn MT-ND1    
20100804203 4089 C-T syn MT-ND1    
20100804206 4107 C-T syn MT-ND1    
20100804232 4501 C-T S-F MT-ND2    
20061030003 4505 C-T syn MT-ND2 Huntington Disease-Like 2 south African Mixed Ancestry
20100804237 4577 C-T syn MT-ND2    
20100804240 4616 C-T syn MT-ND2    
20100804246 4676 C-T syn MT-ND2    
20110801005 4730 C-T syn MT-ND2 NORMAL ASIAN
20100804256 4739 C-T syn MT-ND2    
20100804258 4748 C-T syn MT-ND2    
20100804260 4763 C-T syn MT-ND2    
20100804272 4843 C-T T-M MT-ND2    
20100804274 4898 C-T syn MT-ND2    
20100804278 4936 C-T T-I MT-ND2    
20100804279 4946 C-T syn MT-ND2    
20140731002 5015 C-T syn MT-ND2 CAD Asian Indian
20100804287 5024 C-T syn MT-ND2    
20110503013 5117 C-T syn MT-ND2 Congenital Non-syndromic Deafness  
20091229012 5141 C-T syn MT-ND2 Breast Cancer Africain
20091229013 5144 C-T syn MT-ND2 Breast Cancer Africain
20100804303 5174 C-T syn MT-ND2    
20100804307 5206 C-T S-F MT-ND2    
20100804308 5213 C-T syn MT-ND2    
20050809004 5263 C-T A-V MT-ND2 Normal Arabs
20091229014 5300 C-T syn MT-ND2 Breast Cancer Africain
20000825015 5348 C-T syn MT-ND2 Pancreatic Cancer Caucasian
20040317001 5360 C-T syn MT-ND2 Normal Saudi Arab
20100804322 5360 C-T syn MT-ND2    
20100804323 5375 C-T syn MT-ND2    
20100804330 5437 C-T T-I MT-ND2    
20100804332 5450 C-T syn MT-ND2    
20100804333 5452 C-T T-M MT-ND2    
20140214016 5459 C-T I-I MT-ND2    
20100804335 5463 C-T L-F MT-ND2    
20100804338 5477 C-T syn MT-ND2    
20100804351 5583 C-T non-coding MT-NC3    
20100804353 5586 C-T non-coding MT-NC3    
20100804356 5633 C-T tRNA MT-TA    
20100804366 5817 C-T tRNA MT-TC    
20110302013 5839 C-T non-coding MT-TY complex I deficiency  
20100804370 5840 C-T non-coding MT-TY    
19990303003 6045 C-T syn MT-CO1 Hearing Loss Caucasian
20100804383 6045 C-T syn MT-CO1    
20060515001 6164 C-T syn MT-CO1 Progeria Caucasian
20100804391 6164 C-T syn MT-CO1    
20101004002 6164 C-T syn MT-CO1 INFERTILE Africain
20140520003 6164 C-T Syn MT-CO1 infertile  
20110503016 6188 C-T syn MT-CO1 Congenital Non-syndromic Deafness  
20140217018 6228 C-T L-F MT-CO1 sCJD Han Chinese