MITOMAP: Unpublished mtDNA Variants {ARCHIVED, no longer updated}

To submit unpublished mtDNA variant data to an online database, please contact lishen@chla.usc.edu at MSeqDR.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 Change Amino Acid ChangeSorted ascending Locus / Gene Patient Group / Phenotype Ethnographic Info
20160806004 96 C-A   CR:HVS2   Iranian
20120907005 377         European
20121022005 1760       CAD patient Caucasian/Middle European
20121022003 2170       control/normal/healthy Caucasian/Middle European
20121022004 2412       control/normal/healthy Caucasian/Middle European
20120907002 2876         European
20120110001 3321       Cardiomyopathy Caucasian/Africain
20120124002 5213       Normal Indonesian
20120907001 5307         European
20120907008 5810         European
20120312001 6498       Hearing loss and optic atrophy Caucasian/Africain
20121022001 6996       control/normal/healthy Caucasian/Middle European
20120907010 7153         European
20120110004 7498       Cardiomyopathy Caucasian/Africain
20120110003 7502       Cardiomyopathy Caucasian/Africain
20120907016 7798         European
20120110006 8047       Cardiomyopathy Caucasian/Africain
20120507001 8331          
20120907013 8904         European
20120907015 8954         European
20120907007 9203         European
20120110002 9404       Leigh Syndrome Caucasian/Africain
20120110005 9605       Cardiomyopathy Caucasian/Africain
20130226001 13000          
20120618016 13255       LHON Iranian
20120907011 13578         European
20120907012 13746         European
20120907014 13746         European
20120907003 13847         European
20120125001 14935 no AA change     diabetes myopathy and hearing impairement africain
20121022002 15246       control/normal/healthy Caucasian/Middle European
20120907017 15823         European
20160806006 15906 A-T   tRNA.T   Iranian
20160806007 16046 T-G   CR:HVS1/HV1   Iranian
20050919032 3527 C-A A-D MT-ND1 Normal Arabs
20140730001 4771 C-G A-G MT-ND2 CAD+T2DM Asian Indian
20140721012 8007 G-A A-G MT-CO2 Normal African
20040912004 13811 C-G A-G MT-ND5 Normal Arabs
20100804671 9055 G-C A-P MT-ATP6    
20100805339 15884 G-C A-P MT-CYB    
20100804262 4770 G-T A-S MT-ND2    
20010828014 6570 G-T A-S MT-CO1 Sporadic Parathyroid Adenoma -
20100805045 13042 G-T A-S MT-ND5    
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
20100804140 3460 G-A A-T MT-ND1    
20000825018 3670 G-A A-T MT-ND1 Pancreatic Cancer Caucasian
20000825019 3670 G-A A-T MT-ND1 Pancreatic Cancer Caucasian
20091229005 4512 G-A A-T MT-ND2 Breast Cancer Caucasian
20100804245 4659 G-A A-T 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    
20100804376 5973 G-A A-T MT-CO1    
20100804377 5979 G-A A-T MT-CO1    
20100804399 6249 G-A A-T MT-CO1    
20100804402 6261 G-A A-T MT-CO1    
20100804403 6267 G-A A-T MT-CO1    
20100804544 8027 G-A A-T MT-CO2    
20140721016 8027 G-A A-T MT-CO2 Normal African
20100804602 8545 G-A A-T MT-ATP6    
20100804604 8557 G-A A-T MT-ATP6    
20100804614 8581 G-A A-T MT-ATP6    
19990308004 8584 G-A A-T MT-ATP6 DIDMOAD Asian
20100804666 9022 G-A A-T MT-ATP6    
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    
20100804692 9139 G-A A-T MT-ATP6    
20030925001 9300 G-A A-T MT-CO3 Myopathy Caucasian
20100804708 9300 G-A A-T MT-CO3    
20070527003 9621 G-A A-T MT-CO3 Breast Cancer Caucasian
20100804746 9738 G-A A-T MT-CO3    
20100804754 9804 G-A A-T MT-CO3    
20070327007 10098 G-A A-T MT-ND3 Deafness Arabs
20120618003 10399 C-T A-T MT-ND3 LHON Iranian
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    
20100804937 11852 G-A A-T MT-ND4    
20040209022 11969 G-A A-T MT-ND4 Oral Cancer MARATHI
20100804951 11969 G-A A-T MT-ND4    
20100805051 13135 G-A A-T MT-ND5    
20100805073 13477 G-A A-T 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    
20050813022 14831 G-A A-T MT-CYB Normal Arabs
20100805239 14861 G-A A-T MT-CYB    
20100805263 15110 G-A A-T MT-CYB    
20100805282 15314 G-A A-T MT-CYB    
20030918008 15323 G-A A-T MT-CYB Liver Cancer Asian
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    
20100805338 15884 G-A A-T MT-CYB    
20091229001 3710 C-T A-V MT-ND1 Breast Cancer Caucasian
20050809004 5263 C-T A-V MT-ND2 Normal Arabs
20100804606 8558 C-T A-V MT-ATP6    
20100804642 8765 C-T A-V MT-ATP6    
20110801011 8855 C-T A-V MT-ATP6 NORMAL ASIAN
20100804672 9056 C-T A-V MT-ATP6    
20100804709 9301 C-T A-V MT-CO3    
20091229022 12542 C-T A-V MT-ND5 Breast Cancer Africain
20040803003 14249 G-A A-V MT-ND6 LHON -
20100805174 14249 G-A A-V MT-ND6    
20140423006 15732 C-T A-V MT-CYB Breast cancer Senegalese
20160806002 8539 C-A ATP6: L-M, ATP8: I-M ATP8, ATP6 presbycusis Iranian
20100805123 13889 G-A C-Y MT-ND5    
20140318001 10394 C-A D-E MT-ND3 Cardiomyopathy caucasian
20100804199 4048 G-A D-N MT-ND1    
20050919019 5913 G-A D-N MT-CO1 Normal Arabs
20100804373 5913 G-A D-N MT-CO1    
20100804473 7119 G-A D-N MT-CO1    
20100804522 7754 G-A D-N MT-CO2    
20100804532 7859 G-A D-N MT-CO2    
20100804592 8501 A-G D-N MT-ATP8    
20100804696 9196 G-A D-N MT-ATP6    
20100805057 13225 G-A D-N MT-ND5    
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    
20100805323 15737 G-A D-N MT-CYB    
20140214017 13513 G-A D-N (Asp393Asn) MT-ND5 Leigh syndrome  
20030918004 10153 A-C E-A MT-ND3 Liver Cancer Asian
20040713012 7912 G-C E-D MT-CO2 Esophageal Cancer Asian
20040209047 11314 A-C E-D MT-ND4 Normal GUJARATI
20100804737 9664 A-G E-G MT-CO3    
20110503026 12057 A-G E-G MT-ND4 Congenital Non-syndromic Deafness  
20160806005 15864 A-G E-G CYB   Iranian
20090315007 3376 G-A E-K MT-ND1 Uterine Leiomyomas Asian Indian
20110503019 7763 G-A E-K MT-CO2 Congenital Non-syndromic Deafness  
19990308001 8519 G-A E-K MT-ATP8 MELAS plus other symptoms -
20100804596 8519 G-A E-K MT-ATP8    
20100804748 9753 G-A E-K MT-CO3    
20110704005 15077 G-A E-K MT-CYB non-syndromic deafness  
19990316048 14169 C-T E-N MT-ND6 - -
20040713009 7910 G-C E-Q MT-CO2 Esophageal Cancer Asian
20040713002 4510 T-G F-C MT-ND2 Oral Cancer Asian
20131120001 8241 T-G F-C MT-CO2 DIABETES Caucasian/Africain
20140731010 15480 T-G F-C MT-CYB CAD+T2DM Asian Indian
20050813008 10883 T-A F-I MT-ND4 Normal Arabs
20100805017 12706 T-A F-I MT-ND5    
20140731013 15785 T-A F-I MT-CYB CAD+T2DM Asian Indian
20140729010 3900 C-G F-L MT-ND1 CAD+T2DM Asian Indian
20100804315 5277 T-C F-L MT-ND2    
20100804331 5442 T-C F-L MT-ND2    
20100804471 7080 T-C F-L MT-CO1    
20050813004 7278 T-C F-L MT-CO1 Normal Arabs
20100804490 7278 T-C F-L MT-CO1    
20100804512 7691 T-C F-L MT-CO2    
20100804561 8258 T-C F-L MT-CO2    
20100804584 8426 T-C F-L MT-ATP8    
20100804600 8542 T-C F-L MT-ATP6    
20010828018 8602 T-C F-L MT-ATP6 Sporadic Parathyroid Adenoma -
20100804617 8602 T-C F-L MT-ATP6    
20050919033 8877 T-A F-L MT-ATP6 Normal Arabs
20070612004 9103 T-C F-L MT-ATP6 Normal Saudi Arabs
20080117006 9495 T-C F-L MT-CO3 Deafness Caucasian/Africain
20100804760 9903 T-C F-L MT-CO3    
20050813009 10885 T-A F-L MT-ND4 Normal Arabs
20100804864 10907 T-C F-L MT-ND4    
20010301001 11087 T-C F-L MT-ND4 - Caucasian
20100804891 11204 T-C F-L MT-ND4    
20050813010 11830 T-G F-L MT-ND4 Normal Arabs
20051007001 12621 C-A F-L MT-ND5 Encephalopathy Caucasian
20100805154 14110 T-C F-L MT-ND5    
20100805234 14798 T-C F-L MT-CYB    
20140630006 15404 T-C F-L MT-CYB Temporal lobe epilepsy with hippocampal sclerosis  
20100805294 15451 C-G F-L MT-CYB    
20100805300 15479 T-C F-L MT-CYB    
20140423010 15787 T-G F-L MT-CYB Breast cancer Senegalese
20100804865 10908 T-C F-S MT-ND4    
20100805216 14627 A-G F-S MT-ND6    
20100804710 9316 T-A F-Y MT-CO3    
19990316033 8857 G-T G-C MT-ATP6 - -
20110701001 3959 G-A G-D MT-ND1    
20140729011 3959 G-A G-D MT-ND1 CAD+T2DM Asian Indian
20060130004 8573 G-A G-D MT-ATP6 Encephalopathy Caucasian
20110503020 8115 G-A G-E MT-CO2 Congenital Non-syndromic Deafness  
20010424004 10522 G-A G-E MT-ND4L Sporadic Parathyroid Adenoma -
20140217017 15765 G-A G-E MT-CYB sCJD Han Chinese
20100804651 8920 G-A G-S MT-ATP6    
20070612005 9438 G-A G-S MT-CO3 Normal Saudi Arabs
20100804725 9438 G-A G-S MT-CO3    
20050809015 10143 G-A G-S MT-ND3 Normal Arabs
20100805238 14858 G-A G-S MT-CYB    
20110421003 15002 G-A G-S MT-CYB   Hispanic Father, Caucasian Mother
20140422013 15614 G-A G-S MT-CYB Breast cancer Senegalese
20140730003 6576 G-A G-Term MT-CO1 CAD+T2DM Asian Indian
20100805204 14528 C-A G-V MT-ND6    
20090129013 9933 C-A H-N MT-CO3 COPD Caucasian
20140731004 12437 A-C H-P MT-ND5 CAD+T2DM Asian Indian
20111213006 14949 A-C H-P MT-CYB normal Africain
20010424003 5026 A-G H-R MT-ND2 Sporadic Parathyroid Adenoma -
20070327002 8795 A-G H-R MT-ATP6 Normal Arabs
20100804669 9041 A-G H-R MT-ATP6    
20100804697 9214 A-G H-R MT-CO3    
19990316053 14793 A-G H-R MT-CYB - -
20100805233 14793 A-G H-R MT-CYB    
20100804974 12346 C-T H-Y MT-ND5    
20100804188 4000 A-T I-F MT-ND1    
20100804778 10113 A-T I-F MT-ND3    
20140214016 5459 C-T I-I MT-ND2    
20140217004 9974 C-T I-I MT-CO3 sCJD Han Chinese
20100804187 3997 A-C I-L MT-ND1    
20100804319 5322 A-C I-L MT-ND2    
20050809007 7646 A-C I-L MT-CO2 Normal Arabs
20100804780 10116 A-C I-L MT-ND3    
20010828012 4640 C-A I-M MT-ND2 Sporadic Parathyroid Adenoma -
20100804242 4640 C-A I-M MT-ND2    
20050809002 4904 C-A I-M MT-ND2 Normal Arabs
20100804612 8568 C-A I-M MT-ATP6    
20100804681 9099 C-A I-M MT-ATP6    
20040209015 11140 C-G I-M MT-ND4 Oral Cancer MARATHI
20100805114 13782 C-A I-M MT-ND5    
20111213002 14788 T-G I-M MT-CYB normal Africain
20140217016 14980 C-A I-M MT-CYB sCJD Han Chinese
20140422028 15664 C-A I-M MT-CYB Breast cancer Senegalese
20040209039 11070 T-A I-N MT-ND4 Oral Cancer MARATHI
20100804178 3866 T-G I-S MT-ND1    
20100804683 9101 T-G I-S MT-ATP6    
20111213004 14880 T-G I-S MT-CYB normal Africain
20140731011 15585 T-G I-S MT-CYB CAD+T2DM Asian Indian
20100804126 3335 T-C I-T MT-ND1    
20091229003 3803 T-C I-T MT-ND1 Breast Cancer Caucasian
20050809001 3866 T-C I-T MT-ND1 Normal Arabs
20100804183 3944 T-C I-T MT-ND1    
20061030002 4232 T-C I-T MT-ND1 Huntington Disease-Like 2 south African Mixed Ancestry
20100804296 5074 T-C I-T MT-ND2    
19990316018 5485 T-C I-T MT-ND2 - -
20100804485 7258 T-C I-T MT-CO1    
20060130007 8538 T-C I-T MT-ATP8 Myopathy Caucasian
20100804597 8538 T-C I-T MT-ATP8    
20100804621 8618 T-C I-T MT-ATP6    
20100804625 8639 T-C I-T MT-ATP6    
20050916001 8867 T-C I-T MT-ATP6 Myoclonic Epilepsy, bilateral ptosis Caucasian
20000825006 8957 T-C I-T MT-ATP6 Pancreatic Cancer Caucasian
20100804657 8966 T-C I-T MT-ATP6    
20100804680 9098 T-C I-T MT-ATP6    
20100804690 9128 T-C I-T MT-ATP6    
20040811001 9152 T-C I-T MT-ATP6 - -
20100804773 10084 T-C I-T MT-ND3    
20100804797 10237 T-C I-T MT-ND3    
20110503023 10348 T-C I-T MT-ND3 Congenital Non-syndromic Deafness  
20100804896 11253 T-C I-T MT-ND4    
20140217012 12473 T-C I-T MT-ND5 sCJD Han Chinese
20010424007 13577 T-C I-T MT-ND5 Sporadic Parathyroid Adenoma -
20140423011 15792 T-C I-T MT-CYB Breast cancer Senegalese
20140214004 15204 T-C I-T (Ile153Thr) MT-CYB Patient  
20140214008 9769 T-C I-T (Ile188Thr) MT-CO3 myasthenia gravis Caucasian
20140214009 10866 T-C I-T (Ile36Thr) MT-ND4 myasthenia gravis Caucasian
20000825002 3547 A-G I-V MT-ND1 Pancreatic Cancer Caucasian
20100804148 3547 A-G I-V MT-ND1    
20110503010 3652 A-G I-V MT-ND1 Congenital Non-syndromic Deafness  
20060518005 3943 A-G I-V MT-ND1 - Caucasian
20070527005 4246 A-G I-V MT-ND1 Breast Cancer Caucasian
20100804316 5301 A-G I-V MT-ND2    
20090129001 6060 A-G I-V MT-CO1 COPD Caucasian
19990316022 6663 A-G I-V MT-CO1 - -
20100804439 6663 A-G I-V MT-CO1    
19990316026 7158 A-G I-V MT-CO1 - -
20100804484 7257 A-G I-V MT-CO1    
20100804511 7673 A-G I-V MT-CO2    
20100906002 7799 A-G I-V MT-CO2 Breast cancer  
20050809009 8566 A-G I-V MT-ATP6 Normal Arabs
20100804630 8674 A-G I-V MT-ATP6    
20100804649 8887 A-G I-V MT-ATP6    
20100804653 8938 A-G I-V MT-ATP6    
20010828020 8953 A-G I-V MT-ATP6 Sporadic Parathyroid Adenoma -
20100804682 9100 A-G I-V MT-ATP6    
20100804685 9115 A-G I-V MT-ATP6    
20100804781 10116 A-G I-V MT-ND3    
20140730005 10236 A-G I-V MT-ND3 CAD+T2DM Asian Indian
20100804811 10344 A-G I-V MT-ND3    
20040209011 10826 A-G I-V MT-ND4 Oral Cancer MARATHI
20100804916 11504 A-G I-V MT-ND4    
20070527006 11567 A-G I-V MT-ND4 Breast Cancer Caucasian
20040825002 11930 A-G I-V MT-ND4 Postural Tachycardia Syndrome (POTS) Caucasian
20100805006 12634 A-G I-V MT-ND5    
20070612007 12841 A-G I-V MT-ND5 Normal Saudi Arabs
20100805048 13105 A-G I-V MT-ND5    
20100805050 13117 A-G I-V MT-ND5    
20120618014 13663 A-G I-V MT-ND5 LHON Iranian
20000825020 13780 A-G I-V MT-ND5 Pancreatic Cancer Caucasian
20050813011 13780 A-G I-V MT-ND5 Normal Arabs
20100805113 13780 A-G I-V MT-ND5    
19990316049 14178 T-C I-V MT-ND6 - -
20100805162 14178 T-C I-V MT-ND6    
20100805201 14502 T-C I-V MT-ND6    
20100805210 14577 T-C I-V MT-ND6    
20000825021 15758 A-G I-V MT-CYB Pancreatic Cancer Caucasian
20100805325 15758 A-G I-V MT-CYB    
20061011002 13511 A-T K-M MT-ND5 Leigh Syndrome Caucasian
20040209026 10814 A-C K-Q MT-ND4 Oral Cancer SINDHI
20140217006 11375 A-C K-Q MT-ND4 sCJD Han Chinese
20140731005 12578 A-C K-T MT-ND5 CAD+T2DM Asian Indian
20040209001 10817 A-T K-Term MT-ND4 Oral Cancer GUJARATI
20140731015 15869 A-T K-Term MT-CYB CAD+T2DM Asian Indian
20040713001 3571 C-T L-F MT-ND1 Oral Cancer Asian
20100804335 5463 C-T L-F MT-ND2    
20140217018 6228 C-T L-F MT-CO1 sCJD Han Chinese
20070612003 6546 C-T L-F MT-CO1 Normal Saudi Arabs
20100804517 7721 C-T L-F MT-CO2    
20100804518 7729 A-G L-F MT-CO2    
20021231004 8414 C-T L-F MT-ATP8 MERRF Caucasian
20100804620 8616 G-T L-F MT-ATP6    
20040912003 9822 C-T L-F MT-CO3 Normal Arabs
20050919035 10079 A-C L-F MT-ND3 Normal Arabs
20100804876 11039 C-T L-F MT-ND4    
20100804984 12403 C-T L-F MT-ND5    
20140422022 15641 C-T L-F MT-CYB Breast cancer Senegalese
20100805320 15725 C-T L-F MT-CYB    
20120618006 4932 C-A L-I MT-ND2 LHON Iranian
20100804298 5124 C-A L-I MT-ND2    
20100804426 6489 C-A L-I MT-CO1    
20120618007 10557 C-A L-I MT-ND4L LHON Iranian
20010303005 14783 T-C L-I MT-CYB Breast Cancer Caucasian
20080406003 15434 C-A L-I MT-CYB Cardiomyopathy Tunisian
20100805295 15452 C-A L-I MT-CYB    
20140217003 9732 C-T L-L MT-CO3 sCJD Han Chinese
20140217005 11407 C-T L-L MT-ND4 sCJD Han Chinese
20140217007 11467 A-G L-L MT-ND4 sCJD Han Chinese
20140217008 12372 G-A L-L MT-ND5 sCJD Han Chinese
20110704001 3388 C-A L-M MT-ND1 non-syndromic deafness  
20100804146 3535 T-A L-M MT-ND1    
20100804397 6237 C-A L-M MT-CO1    
20040209037 11054 C-A L-M MT-ND4 Oral Cancer MARATHI
20090910001 13468 C-A L-M MT-ND5 Aminoglycoside-induced hearing loss Caucasian
20100805071 13468 C-A L-M MT-ND5    
20140423004 15704 C-A L-M MT-CYB Breast cancer Senegalese
20041107002 3605 T-C L-P MT-ND1 Type 2 Diabetes Mellitus Mongolia
20100804207 4112 T-C L-P MT-ND1    
20010424002 4172 T-C L-P MT-ND1 Sporadic Parathyroid Adenoma -
20140731001 4927 T-C L-P MT-ND2 CAD Asian Indian
20100804563 8265 T-C L-P MT-CO2    
20100804645 8819 T-C L-P MT-ATP6    
20100804658 8975 T-C L-P MT-ATP6    
20100804667 9035 T-C L-P MT-ATP6    
20100804875 11025 T-C L-P MT-ND4    
20140731006 12581 T-C L-P MT-ND5 CAD+T2DM Asian Indian
20100805229 14775 T-C L-P MT-CYB    
20140127002 15453 T-C L-P MT-CYB isolated complex III deficiency Causacian
20040217004 15519 T-C L-P MT-CYB Infarct Cerebri Multiplex, more Caucasian
20100805305 15519 T-C L-P MT-CYB    
20140214002 7989 T-C L-P (Leu135Pro) MT-CO2 control Caucasian
20100804212 4172 T-A L-Q MT-ND1    
20040713014 10282 T-A L-Q MT-ND3 Esophageal Cancer Asian
20100805140 14000 T-A L-Q MT-ND5    
20070327001 8741 T-G L-R MT-ATP6 Normal Arabs
20100804660 8993 T-G L-R MT-ATP6    
20100805015 12698 T-G L-R MT-ND5    
20140731012 15609 T-G L-R MT-CYB CAD+T2DM Asian Indian
20051007007 8750 T-C L-S MT-ATP6 Myopathy Caucasian
20100805299 15471 T-C L-S MT-CYB    
20090529002 6216 T-C L1-L2 MT-CO1 Infertility Africain/caucasian
20110105001 13077 C-T Leu247Leu MT-ND5 NSHL Caucasian
20100804135 3399 A-T M-I MT-ND1    
20100804189 4005 A-T M-I MT-ND1    
20091229008 5069 A-T M-I MT-ND2 Breast Cancer Africain
20100804343 5504 A-T M-I MT-ND2    
20090604002 6527 A-T M-I MT-CO1 DIABETES Africain/caucasian
20100125003 6527 A-T M-I MT-CO1 bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, pyramidal syndrome with calcification of basal ganglia and epilepsy Tunisian
20100804777 10112 A-C M-I MT-ND3    
20100804820 10487 A-T M-I MT-ND4L    
20140422027 15655 A-C M-I MT-CYB Breast cancer Senegalese
20140729012 4573 T-A M-K MT-ND2 CAD+T2DM Asian Indian
19990316032 8205 T-A M-K MT-CO2 - -
20100804632 8696 T-A M-K MT-ATP6    
20100804776 10110 A-C M-L MT-ND3    
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20030529042 16359 T-G non-coding Control Region Oral Cancer Asian Indian
20030528049 16362 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528063 16362 T-G non-coding Control Region Oral Cancer Asian Indian- Muslim
20050919031 16362 T-C non-coding Control Region Normal Arabs
20030528064 16363 C-G non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528150 16390 G-A non-coding Control Region Oral Cancer Asian Indian
20030529035 16391 G-A non-coding Control Region Oral Cancer Asian Indian
20100908002 16391 G-T non-coding Control Region Oral cancer Indian-Bengali
20030528139 16399 A-G non-coding Control Region Oral Cancer Asian Indian
20030528091 16417 A-T non-coding Control Region Oral Cancer Asian Indian- Gujarati
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  
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
20030528016 16497 A-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528017 16497 A-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20070527002 16504 G-A non-coding Control Region Breast Cancer Caucasian
20030529026 16518 G-T non-coding Control Region Oral Cancer Asian Indian
20030527018 16519 T-C non-coding Control Region Oral Cancer Asian Indian
20030527019 16524 A-C non-coding Control Region Oral Cancer Asian Indian
20070527007 16527 C-T non-coding Control Region Breast Cancer Caucasian
20110503032 16565 C-T non-coding Control Region Congenital Non-syndromic Deafness  
20030528018 16567 A-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528019 16568 T-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528020 16569 G-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20120907009 67 G-C noncod D-Loop   European
20120907006 74 T-G noncod D-Loop   European
20000211004 125 T-G noncod D-Loop - Chinese
20021231006 126 T-C noncod D-Loop Normal Madia Gond tribe
20091019002 129 T-C noncod D-Loop Normal Malay
20010303003 147 C-T noncod D-Loop Breast Cancer Caucasian
20021231007 163 A-G noncod D-Loop Normal Madia Gond tribe
20021231008 186 C-T noncod D-Loop Normal Madia Gond tribe
20091019001 188 A-G noncod D-Loop Normal Malay
20021231009 189 T-C noncod D-Loop Normal Madia Gond tribe
20000211002 195 T-A noncod D-Loop - Indian
19990218005 216 T-C noncod D-Loop Hearing Loss Caucasian
20000211003 246 T-C noncod D-Loop - Indian
20010424001 253 C-A noncod D-Loop Sporadic Parathyroid Adenoma -
20010828002 285 C-T noncod D-Loop Sporadic Parathyroid Adenoma -
20021231010 294 T-C noncod D-Loop Normal Madia Gond tribe
20000211005 329 G-A noncod D-Loop - Malay
19990218006 340 C-T noncod D-Loop Hearing Loss Caucasian
20000915002 447 C-G noncod D-Loop - Punjabi
20091006002 447 C-G noncod D-Loop Normal Kedah Malays
20000914001 463 C-T noncod D-Loop - -
20000211009 469 C-A noncod D-Loop - Punjabi
20000211001 482 T-C noncod D-Loop - Indian
20000914002 485 T-C noncod D-Loop - Indian
20021231001 512 A-G noncod D-Loop Leigh Syndrome Caucasian
20000914003 560 C-T noncod D-Loop - Kadazan-Dusun
20090604001 581 A-C noncod MT-TF DIABETES Africain/caucasian
20120119001 650 T-C Noncod MT-TF normal Indonesian
19990316006 711 T-C noncod MT-RNR1 - -
20081112001 930 G-C noncod MT-RNR1 Normal Yakut
20010828003 1007 G-A noncod MT-RNR1 Sporadic Parathyroid Adenoma -
20161022001 1147 G-A noncod RNR1 hearing loss Iranian
20081105001 1453 A-G noncod MT-RNR1 Non-Syndromic Hearing Impairment (NSHI) Hindu
20091029001 1453 A-G noncod MT-RNR1 Hearing loss Caucasian
19990308002 1462 G-A noncod MT-RNR1 Diabetes/Deafness -
20081106001 1462 G-A noncod MT-RNR1 Non-Syndromic Hearing Impairment (NSHI) Hindu
20081106002 1508 C-T noncod MT-RNR1 Non-Syndromic Hearing Impairment (NSHI) Hindu
20010828004 1700 T-C noncod MT-RNR2 Sporadic Parathyroid Adenoma -
20010301006 1703 C-T noncod MT-RNR2 Breast Cancer Caucasian
20010828005 2218 C-T noncod MT-RNR2 Sporadic Parathyroid Adenoma -
19990316007 3116 C-T noncod MT-RNR2 - -
20010828006 3160 A-T noncod MT-RNR2 Sporadic Parathyroid Adenoma -
19990316008 3184 C-T noncod MT-RNR2 - -
19990308003 3197 T-C noncod MT-RNR2 Encephalopathy Cardiomyopathy Mennonite
20021231003 3206 C-T noncod MT-RNR2 MELAS Caucasian
20080117001 4313 T-C noncod MT-TI Deafness Caucasian/Africain
19990721001 4315 A-G noncod MT-TI Psychomotor retardation Caucasian
20081202001 4395 A-G noncod MT-TQ cardiomyopathy Afrique
20010828011 4418 T-C noncod MT-TM Sporadic Parathyroid Adenoma -
20080520002 5558 A-G noncod MT-TW Ophthalmoparesis, single eye ptosis Asian
20080520003 5585 G-A noncod MT-NC3 Ophthalmoparesis, single eye ptosis Asian
19990316019 5655 T-C noncod MT-TA - -
20000825012 10044 A-G noncod MT-TG Pancreatic Cancer Caucasian
20010301008 12237 C-T noncod MT-TS2 Breast Cancer Caucasian
20010303002 12251 A-G noncod MT-TS2 Breast Cancer Caucasian
19990316055 16051 A-G noncod D-Loop - -
20091005001 16111 C-G noncod D-Loop Normal Bugis Malays
20091005007 16111 C-A noncod D-Loop Normal Kelantan Malays
20020507001 16147 C-A noncod D-Loop Breast Tumor -
20000211006 16157 T-C noncod D-Loop - Rungus
20000915003 16157 T-A noncod D-Loop - Murut
20001017001 16170 A-G noncod D-Loop Lung Cancer Caucasian
20091005006 16176 C-G noncod D-Loop Normal Riau Malays
20080730001 16183 A-G noncod D-Loop - Chinese Tu ethnic group
20080730002 16184 C-G noncod D-Loop - Chinese Tu ethnic group
20000224001 16187 C-G noncod D-Loop - Bisaya
20080730003 16189 T-A noncod D-Loop - Chinese Han ethnic group
20000211007 16192 C-A noncod D-Loop - Murut
20091005004 16194 A-C noncod D-Loop Normal Minangkabau and Banjar Malays
20091006001 16207 A-G noncod D-Loop Normal Malay
20091005002 16246 A-T noncod D-Loop Normal Banjar Malays
20000914004 16259 C-A noncod D-Loop - Murut
20081212001 16292 C-T noncod D-Loop normal Veddah
20091005005 16301 C-T noncod D-Loop Normal Banjar Malays
20000914005 16309 A-C noncod D-Loop - Punjabi
20091005003 16312 A-G noncod D-Loop Normal Kedah Malays
20000211008 16317 A-C noncod D-Loop - Malay
20000914006 16318 A-C noncod D-Loop - Punjabi
20000915001 16337 C-T noncod D-Loop - Murut
20080810001 16525 A-G noncod D-Loop FAP Chinese
20010828008 3591 G-A P-L MT-ND1 Sporadic Parathyroid Adenoma -
20110801009 8394 C-T P-L MT-ATP8 NORMAL ASIAN
20040210026 8559 C-T P-L MT-ATP8 NAION Arabs
20100804607 8562 C-T P-L MT-ATP8    
20100804867 10920 C-T P-L MT-ND4    
20100805112 13766 C-T P-L MT-ND5    
20100805175 14258 G-A P-L MT-ND6    
20110314002 14258 G-A P-L MT-ND6 LHON Caucasion
20100805227 14772 C-T P-L MT-CYB    
20100805235 14811 C-T P-L MT-CYB    
20100804581 8393 C-T P-S MT-ATP8    
20100804605 8558 C-T P-S MT-ATP8    
19990316034 8932 C-T P-S MT-ATP6 - -
20030723001 8932 C-T P-S MT-ATP6 Encephalomyopathy plus other symptoms Caucasian
20010828022 9426 C-T P-S MT-CO3 Sporadic Parathyroid Adenoma -
20010828024 9426 C-T P-S MT-CO3 Sporadic Parathyroid Adenoma -
20000825007 11177 C-T P-S MT-ND4 Pancreatic Cancer Caucasian
20100805054 13147 C-T P-S MT-ND5    
20100805111 13765 C-T P-S MT-ND5    
20100805131 13948 C-T P-S MT-ND5    
20140217015 14753 C-T P-S MT-CYB sCJD Han Chinese
20110503030 15542 C-T P-S MT-CYB Congenital Non-syndromic Deafness  
20100804181 3895 C-A P-T MT-ND1    
20100804310 5232 C-A P-T MT-ND2    
20100804729 9528 C-A P-T MT-CO3    
20140214001 12071 T-C Phe438Pro MT-ND4 control Caucasian
20050809014 9539 A-T Q-H MT-CO3 Normal Arabs
20140423009 15767 C-A Q-K MT-CYB Breast cancer Senegalese
20040209038 11067 A-T Q-L MT-ND4 Oral Cancer MARATHI
20100805137 13973 A-T Q-L MT-ND5    
20070327004 8816 A-G Q-R MT-ATP6 Leigh Syndrome Arabs
20050919037 13637 A-G Q-R MT-ND5 Normal Arabs
20100805092 13637 A-G Q-R MT-ND5    
20100804529 7830 G-A R-H MT-CO2    
20100804929 11778 G-A R-H MT-ND4    
20100804627 8648 G-C R-P MT-ATP6    
20090315008 3380 G-A R-Q MT-ND1 Uterine Leiomyomas Asian Indian
20000825016 15045 G-A R-Q MT-CYB Pancreatic Cancer Caucasian
20140422008 15590 C-A R-TERM MT-CYB Breast cancer Senegalese
20071219001 689 T-C rRNA MT-RNR1 Normal Caucasian
20100804005 709 G-A rRNA MT-RNR1    
20111230001 712 C-A rRNA MT-RNR1 non-syndromic hearing impairment Caucasian
20110302003 719 G-A rRNA MT-RNR1 combined complex I + IV deficiency  
20110503001 720 T-C rRNA MT-RNR1 Congenital Non-syndromic Deafness  
20050919001 722 C-G rRNA MT-RNR1 Normal Arabs
20050919002 723 A-G rRNA MT-RNR1 Normal Arabs
20050308004 735 A-G rRNA MT-RNR1 Deafness Africain
20110302004 739 C-T rRNA MT-RNR1 combined complex I+IV defiency  
20050308003 742 T-C rRNA MT-RNR1 Normal Africain
20100804006 745 A-G rRNA MT-RNR1    
20100804007 747 A-G rRNA MT-RNR1    
20100804008 750 A-G rRNA MT-RNR1    
20071219002 751 A-G rRNA MT-RNR1 Normal Caucasian
20100804009 751 A-C rRNA MT-RNR1    
20100804010 751 A-G rRNA MT-RNR1    
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
20050308005 794 T-A rRNA MT-RNR1 Deafness Africain
20050313001 813 A-G rRNA MT-RNR1 Deafness Africain
20100804012 813 A-G rRNA MT-RNR1    
20100804013 825 T-A rRNA MT-RNR1    
20050919003 827 A-G rRNA MT-RNR1 Normal Arabs
20100804014 827 A-G rRNA MT-RNR1    
20050308002 868 C-T rRNA MT-RNR1 Normal Africain
20100804015 896 A-G rRNA MT-RNR1    
20100804016 930 G-A rRNA MT-RNR1    
20100804017 951 G-A rRNA MT-RNR1    
20100804018 953 T-C rRNA MT-RNR1    
20050308001 954 C-T rRNA MT-RNR1 Normal Africain
20100804019 957 C-G rRNA MT-RNR1    
20110503002 960 C-A rRNA MT-RNR1 Congenital Non-syndromic Deafness  
20060913001 961 T-A rRNA MT-RNR1 Deafness Russian
20100804020 961 T-C rRNA MT-RNR1    
20100804021 961 T-G rRNA MT-RNR1    
20100804022 962 C-G rRNA MT-RNR1    
20100804023 980 T-C rRNA MT-RNR1    
20100804024 1007 G-A rRNA MT-RNR1    
20100804025 1008 A-G rRNA MT-RNR1    
20110302005 1009 C-T rRNA MT-RNR1 combined complex I + IV defiency  
20110302015 1011 C-A rRNA MT-RNR1 combined complex I + IV deficiency  
20050919004 1018 G-A rRNA MT-RNR1 Normal Arabs
20100804026 1018 G-A rRNA MT-RNR1    
20070709001 1027 A-G rRNA MT-RNR1 Control Altaian
20100804027 1053 A-G 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    
20050919006 1245 T-G rRNA MT-RNR1 Normal Arabs
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
20100804035 1435 A-T rRNA MT-RNR1    
20100804036 1438 A-G rRNA MT-RNR1    
20100804037 1462 G-A rRNA MT-RNR1    
20110503003 1462 G-T rRNA MT-RNR1 Congenital Non-syndromic Deafness  
20100804038 1503 G-A rRNA MT-RNR1    
20100804039 1530 A-G rRNA MT-RNR1    
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
20070709002 1557 A-C rRNA MT-RNR1 Deafness Russian
20140729004 1597 C-A rRNA MT-RNR1 CAD+T2DM Asian Indian
20100804041 1598 G-A rRNA MT-RNR1    
20100804043 1676 A-G rRNA MT-RNR2    
20110302006 1692 A-T rRNA MT-RNR2 combined complex I + IV deficiency  
20041220011 1700 T-C rRNA MT-RNR2 Oral Cancer Asian Indian
20100804044 1700 T-C rRNA MT-RNR2    
20060130005 1703 C-T rRNA MT-RNR2 Mental Retardation Caucasian
20100804045 1709 G-A rRNA MT-RNR2    
20100804046 1711 C-T rRNA MT-RNR2    
20041220007 1713 C-T rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220008 1713 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220009 1715 C-T rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220005 1719 G-A rRNA MT-RNR2 Oral Cancer Asian Indian-Muslim
20100804047 1719 G-A rRNA MT-RNR2    
20100804048 1720 C-T rRNA MT-RNR2    
20050919007 1721 C-T rRNA MT-RNR2 Normal Arabs
20100804049 1721 C-T rRNA MT-RNR2    
20100804050 1738 T-C rRNA MT-RNR2    
20110302022 1767 G-A rRNA MT-RNR2 complex I deficiency  
20041220002 1780 T-C rRNA MT-RNR2 Oral Cancer Asian Indian
20100804051 1806 T-C rRNA MT-RNR2    
20041220004 1811 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Muslim
20041220013 1811 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Gujarati
20050919008 1811 A-G rRNA MT-RNR2 Normal Arabs
20100804052 1811 A-G rRNA MT-RNR2    
20100804053 1812 C-G rRNA MT-RNR2    
20100804054 1813 C-G rRNA MT-RNR2    
20100804055 1824 T-C rRNA MT-RNR2    
20100804056 1834 T-C rRNA MT-RNR2    
20050919009 1837 C-A rRNA MT-RNR2 Normal Arabs
20100804057 1842 A-G rRNA MT-RNR2    
20070207001 1843 T-C rRNA MT-RNR2 Centenarian Caucasian
20050919010 1845 C-A rRNA MT-RNR2 Normal Arabs
20100804058 1850 T-C rRNA MT-RNR2    
20110302018 1886 G-A rRNA MT-RNR2 combined complex I + IV deficiency, Mitochondrial Myopathy  
20100804059 1888 G-A rRNA MT-RNR2    
20100804060 1900 A-G rRNA MT-RNR2    
20070207002 1940 A-G rRNA MT-RNR2 Centenarian Caucasian
20110302007 1943 A-G rRNA MT-RNR2 complex I deficiency  
20100804061 1977 T-C rRNA MT-RNR2    
20110503004 1978 A-C rRNA MT-RNR2 Congenital Non-syndromic Deafness  
20100804062 2060 A-C rRNA MT-RNR2    
20100804063 2060 A-G rRNA MT-RNR2    
20100804064 2098 G-A rRNA MT-RNR2    
20100804065 2141 T-C rRNA MT-RNR2    
20100804066 2158 T-C rRNA MT-RNR2    
20100804067 2217 C-T rRNA MT-RNR2    
20100804068 2225 C-T rRNA MT-RNR2    
20110302019 2239 A-G rRNA MT-RNR2 combined complex I + IV deficiency  
20100804069 2245 A-G rRNA MT-RNR2    
20100804070 2246 A-G rRNA MT-RNR2    
20100804071 2251 A-G rRNA MT-RNR2    
20100804072 2259 C-T rRNA MT-RNR2    
20100804073 2264 A-G 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    
20100804078 2294 A-G rRNA MT-RNR2    
20110302008 2294 A-G rRNA MT-RNR2 combined complex I + IV deficiency  
20100804079 2308 A-G rRNA MT-RNR2    
20100804080 2352 T-C rRNA MT-RNR2    
20050919011 2355 A-G rRNA MT-RNR2 Normal Arabs
20110302009 2358 A-G rRNA MT-RNR2 complex I deficiency  
20041220014 2361 G-A rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20100804081 2361 G-A rRNA MT-RNR2    
20100804082 2387 T-C rRNA MT-RNR2    
20100804083 2395 A-C rRNA MT-RNR2    
20100804084 2395 A-G rRNA MT-RNR2    
20041220016 2396 C-T rRNA MT-RNR2 Oral Cancer Asian Indian
20100804085 2416 T-C rRNA MT-RNR2    
20100804086 2417 C-G rRNA MT-RNR2    
20140729007 2435 G-T rRNA MT-RNR2 CAD+T2DM Asian Indian
20050919012 2442 T-C rRNA MT-RNR2 Normal Arabs
20100804087 2442 T-C rRNA MT-RNR2    
20050919013 2451 A-C rRNA MT-RNR2 Normal Arabs
20100804088 2483 T-C rRNA MT-RNR2    
20050919014 2505 A-C rRNA MT-RNR2 Normal Arabs
20140630001 2523 C-T rRNA MT-RNR2 Temporal lobe epilepsy with hippocampal sclerosis  
20100804089 2581 A-G rRNA MT-RNR2    
20100804090 2607 T-A rRNA MT-RNR2    
20070207003 2623 A-G rRNA MT-RNR2 Centenarian Caucasian
20041220003 2644 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20100804091 2702 G-A rRNA MT-RNR2    
20041220001 2706 A-G rRNA MT-RNR2 Oral Cancer Asian Indian - Gujarati
20050919015 2706 A-G rRNA MT-RNR2 Normal Arabs
20100804092 2706 A-G rRNA MT-RNR2    
20100804093 2707 A-G rRNA MT-RNR2    
20041220006 2715 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Gujarati
20100804094 2755 A-G rRNA MT-RNR2    
20110302010 2755 A-G rRNA MT-RNR2 complex I deficiency  
20100804095 2757 A-G rRNA MT-RNR2    
20100804096 2758 G-A rRNA MT-RNR2    
20100804097 2768 A-G rRNA MT-RNR2    
20100804098 2772 C-T rRNA MT-RNR2    
20100804099 2775 A-G rRNA MT-RNR2    
20100804100 2789 C-T rRNA MT-RNR2    
20100804101 2792 A-G rRNA MT-RNR2    
20100804102 2831 G-A rRNA MT-RNR2    
20100804103 2833 A-G rRNA MT-RNR2    
20100804104 2838 A-C rRNA MT-RNR2    
20100804105 2850 T-C rRNA MT-RNR2    
20100804106 2873 A-G rRNA MT-RNR2    
20100804107 2885 T-C rRNA MT-RNR2    
20100804108 2955 T-C rRNA MT-RNR2    
20100804109 3010 G-A rRNA MT-RNR2    
20100804110 3027 T-C rRNA MT-RNR2    
20100804111 3083 T-C rRNA MT-RNR2    
20100804112 3105 A-G rRNA MT-RNR2    
20041220015 3116 C-T rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20100804113 3116 C-T rRNA MT-RNR2    
20100804114 3173 G-A rRNA MT-RNR2    
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    
20100804117 3203 A-C rRNA MT-RNR2    
20100804118 3204 C-G rRNA MT-RNR2    
20100804119 3204 C-T rRNA MT-RNR2    
20100804120 3207 A-C rRNA MT-RNR2    
20100804121 3212 C-T rRNA MT-RNR2    
20111230003 3213 A-G rRNA MT-RNR2 non-syndromic hearing loss  
20041220017 3220 A-G rRNA MT-RNR2 Oral Cancer Asian Indian
20051007006 3221 A-G rRNA MT-RNR2 - Caucasian
20100804122 3221 A-G rRNA MT-RNR2    
20100804675 9070 T-G S-A 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
20100804960 12083 T-G S-A MT-ND4    
20100804981 12376 T-G S-A MT-ND5    
20100805110 13762 T-G S-A MT-ND5    
20111213005 14828 T-G S-A MT-CYB normal Africain
20120125002 14936   S-A   diabetes myopathy and hearing impairement africain
20060125001 15713 T-G S-A MT-CYB Epilepsy Russian
20050813007 10159 C-G S-C MT-ND3 Normal Arabs
20100804232 4501 C-T S-F MT-ND2    
20100804307 5206 C-T S-F MT-ND2    
20100804789 10192 C-T S-F MT-ND3    
20040209025 10812 C-T S-F MT-ND4 Oral Cancer SINDHI
20040209040 11073 C-T S-F MT-ND4 Oral Cancer MARATHI
20100805082 13565 C-T S-F MT-ND5    
20110503029 14820 C-T S-F MT-CYB Congenital Non-syndromic Deafness  
20100804281 4965 A-G S-G MT-ND2    
20100804695 9181 A-G S-G MT-ATP6    
20030918005 11015 A-G S-G MT-ND4 Liver Cancer Asian
20021231005 8431 C-T S-L MT-ATP8 MERRF Caucasian
20100804747 9742 C-T S-L MT-CO3    
20000825017 3635 G-A S-N MT-ND1 Pancreatic Cancer Caucasian
20100804276 4924 G-A S-N MT-ND2    
20120418001 8969 G-A S-N MT-ATP6    
20040713013 9182 G-A S-N MT-ATP6 Esophageal Cancer Asian
19990316038 11016 G-A S-N MT-ND4 - -
20040209003 11016 G-A S-N MT-ND4 Oral Cancer Asian Indian
20100805052 13145 G-A S-N MT-ND5    
20100805126 13928 G-A S-N MT-ND5    
20100804788 10191 T-C S-P MT-ND3    
20040209024 10811 T-C S-P MT-ND4 Oral Cancer SINDHI
20140217013 12631 T-C S-P MT-ND5 sCJD Han Chinese
20100805120 13879 T-C S-P MT-ND5    
20021231012 14849 T-C S-P MT-CYB Septo-optic Dysplasia Caucasian
20040209014 10850 A-C S-R MT-ND4 Oral Cancer MARATHI
20140214015 11050 T-C S-S MT-ND4   Caucasian
20120618008 12012 C-A S-STOP MT-ND4 LHON Iranian
20120618004 4539 T-A S-T MT-ND2 LHON Iranian
20120618002 4941 T-A S-T MT-ND2 LHON Iranian
20100804757 9840 T-A S-T MT-CO3    
20090129014 9987 T-A S-T MT-CO3 COPD Caucasian
20100804959 12083 T-A S-T MT-ND4    
20120618017 13255 T-A S-T MT-ND5 LHON Iranian
20100805070 13466 G-C S-T MT-ND5    
20100805127 13928 G-C S-T MT-ND5    
20100805318 15708 G-C S-T MT-CYB    
20051007005 11776 T-G S-Ter MT-ND4 - Caucasian
20100804611 8568 C-A S-Y MT-ATP8    
19990316044 13880 C-A S-Y MT-ND5 - -
20100805121 13880 C-A S-Y MT-ND5    
20160806003 8682 A-G sym ATP6 Presbycusis Iranian
20090315005 3327 A-C syn MT-ND1 Uterine Leiomyomas Asian Indian
20100804127 3336 T-C syn MT-ND1    
20060518004 3342 C-T syn MT-ND1 - Caucasian
20090315004 3342 C-A syn MT-ND1 Uterine Leiomyomas Asian Indian
20100804129 3348 A-G syn MT-ND1    
20011206001 3351 C-T syn MT-ND1 Unknown cardio-facio-cutaneous syndrome Caucasian
20021231013 3360 A-G syn MT-ND1 Leucodystrophy Caucasian
20100804131 3360 A-G syn MT-ND1    
20110503005 3387 T-C syn MT-ND1 Congenital Non-syndromic Deafness  
20100804136 3423 T-C syn MT-ND1    
20100804137 3426 A-G syn MT-ND1    
20110503006 3438 G-T syn MT-ND1 Congenital Non-syndromic Deafness  
20090315003 3442 C-T syn MT-ND1 Uterine Leiomyomas Asian Indian
20110503007 3444 A-T syn MT-ND1 Congenital Non-syndromic Deafness  
20140729009 3444 A-T syn MT-ND1 CAD+T2DM Asian Indian
20100804139 3447 A-G syn MT-ND1    
20110503008 3456 T-G syn MT-ND1 Congenital Non-syndromic Deafness  
20100804141 3480 A-G syn MT-ND1    
20100804142 3483 G-A syn MT-ND1    
20110503009 3486 C-T syn MT-ND1 Congenital Non-syndromic Deafness  
20100804143 3504 T-C syn MT-ND1    
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
20040210001 3531 G-A syn MT-ND1 NAION Arabs
20100804145 3531 G-A syn MT-ND1    
20100804147 3540 T-C syn MT-ND1    
19990218007 3552 T-A syn MT-ND1 LHON Hispanic
20100804149 3552 T-C syn MT-ND1    
20051031001 3579 A-G syn MT-ND1 Encephalomyopathy Caucasian
20100804151 3591 G-A syn MT-ND1    
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
20031029001 3645 T-C syn MT-ND1 LHON Arabs
20100804153 3645 T-C syn MT-ND1    
20100804154 3654 C-T syn MT-ND1    
19990316010 3666 G-A syn MT-ND1 - -
20100804155 3666 G-A syn MT-ND1    
20100804156 3672 A-G syn MT-ND1    
20100804157 3687 C-T syn MT-ND1    
19990316011 3693 G-A syn MT-ND1 - -
20100804158 3693 G-A syn MT-ND1    
20100804159 3720 A-G syn MT-ND1    
20100804160 3732 T-C syn MT-ND1    
20100804161 3735 A-G syn MT-ND1    
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    
20100804166 3753 T-C syn MT-ND1    
20091229002 3756 A-G syn MT-ND1 Breast Cancer Africain
20100804167 3756 A-G syn MT-ND1    
20100804168 3766 T-C syn MT-ND1    
20040210003 3768 A-G syn MT-ND1 NAION Arabs
20100804169 3777 T-C syn MT-ND1    
20110503011 3783 C-T syn MT-ND1 Congenital Non-syndromic Deafness  
20100804171 3801 T-C syn MT-ND1    
20100804172 3825 A-G syn MT-ND1    
20100804173 3826 T-C syn MT-ND1    
20040210004 3834 G-A syn MT-ND1 NAION Arabs
20100804174 3834 G-A syn MT-ND1    
20091229004 3846 C-T syn MT-ND1 Breast Cancer Amerindian
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    
20100804176 3849 G-A syn MT-ND1    
20100519001 3861 A-G syn MT-ND1 Leigh Syndrome Caucasian/Africain
20100804177 3861 A-G syn MT-ND1    
20120124001 3873 A-G syn MT-ND1 Normal Indonesian
20100804179 3874 C-T syn MT-ND1    
20100804180 3882 G-A syn MT-ND1    
20110503012 3894 C-T syn MT-ND1 Congenital Non-syndromic Deafness  
20100804182 3915 G-A syn MT-ND1    
20010301007 3921 C-A syn MT-ND1 Breast Cancer Caucasian
20040210006 3921 C-A syn MT-ND1 NAION Arabs
20100804184 3969 C-T syn MT-ND1    
20100804185 3990 C-T syn MT-ND1    
20040912001 3993 A-G syn MT-ND1 Normal Arabs
20080414003 4017 C-T syn MT-ND1 Hypertrophic Cardiomyopathy Caucasian
20100804191 4017 C-T syn MT-ND1    
20100804192 4020 C-T syn MT-ND1    
20100804196 4026 A-G syn MT-ND1    
20101209002 4032 C-T syn MT-ND1 Cardiomyopathy  
20100804197 4038 A-G syn MT-ND1    
20100804198 4047 T-C syn MT-ND1    
20060518006 4065 A-G syn MT-ND1 - Caucasian
20100804200 4065 A-G syn MT-ND1    
20080414002 4080 T-C syn MT-ND1 Cardiomyopathy Caucasian/Africain
20100804201 4080 T-C syn MT-ND1    
20100804202 4086 C-T syn MT-ND1    
20100804203 4089 C-T syn MT-ND1    
20040210007 4092 G-A syn MT-ND1 NAION Arabs
19990316012 4104 A-G syn MT-ND1 - -
20040210008 4104 A-G syn MT-ND1 NAION Arabs
20100804205 4104 A-G syn MT-ND1    
20100804206 4107 C-T syn MT-ND1    
20100804208 4113 G-A syn MT-ND1    
20100804209 4117 T-C syn MT-ND1    
20100804210 4122 A-G syn MT-ND1    
20100804211 4131 A-G syn MT-ND1    
20010828009 4188 A-G syn MT-ND1 Sporadic Parathyroid Adenoma -
20100804213 4188 A-G syn MT-ND1    
20040317003 4203 A-G syn MT-ND1 Normal Saudi Arab
20100804214 4203 A-G syn MT-ND1    
20040317011 4204 T-C syn MT-ND1 Normal Saudi Arab
20061030001 4206 A-G syn MT-ND1 Control south African Mixed Ancestry
20100804216 4221 C-A syn MT-ND1    
20100804218 4227 A-G syn MT-ND1    
20110801006 4254 T-C syn MT-ND1   ASIAN
20040210009 4257 A-G syn MT-ND1 NAION Arabs
20061030003 4505 C-T syn MT-ND2 Huntington Disease-Like 2 south African Mixed Ancestry
20100804233 4529 A-T syn MT-ND2    
20100804234 4550 T-C syn MT-ND2    
20100804235 4553 T-C syn MT-ND2    
20040720010 4562 A-G syn MT-ND2 Breast Cancer Asian
20100804237 4577 C-T syn MT-ND2    
20100804238 4580 G-A syn MT-ND2    
20100804239 4589 T-C syn MT-ND2    
20091229006 4598 T-C syn MT-ND2 Breast Cancer African, Amerindian
20100804240 4616 C-T syn MT-ND2    
20100804241 4622 T-C syn MT-ND2    
20100804243 4643 G-A syn MT-ND2    
20100804244 4646 T-C syn MT-ND2    
20100804246 4676 C-T syn MT-ND2    
20100804247 4688 T-C syn MT-ND2    
20100804248 4703 T-C syn MT-ND2    
20100804249 4706 A-G syn MT-ND2    
20100804250 4715 A-G syn MT-ND2    
20100804252 4727 A-G syn MT-ND2    
20110801005 4730 C-T syn MT-ND2 NORMAL ASIAN
20100804254 4733 T-C syn MT-ND2    
20100804255 4736 T-C syn MT-ND2    
20100804256 4739 C-T syn MT-ND2    
20100804257 4745 A-G syn MT-ND2    
20100804258 4748 C-T syn MT-ND2    
20100804259 4754 A-C syn MT-ND2    
20091229007 4755 T-C syn MT-ND2 Breast Cancer Africain
20100804260 4763 C-T syn MT-ND2    
20050919017 4769 A-G syn MT-ND2 Normal Arabs
20100804261 4769 A-G syn MT-ND2    
20100804263 4772 T-C syn MT-ND2    
20100804265 4790 A-G