MITOMAP: Unpublished mtDNA Variants {ARCHIVED, no longer updated}

To submit unpublished mtDNA variant data to an online database, please contact lishen@chla.usc.edu at MSeqDR.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 Change Locus / Gene Patient Group / Phenotype Ethnographic InfoSorted descending
20081112001 930 G-C noncod MT-RNR1 Normal Yakut
20081212001 16292 C-T noncod D-Loop normal Veddah
19991118001 8860 A-G T-A MT-ATP6 Subfertile Unknown
19991118002 8860 A-G T-A MT-ATP6 Control Unknown
19991118003 8860 A-G T-A MT-ATP6 Control Unknown
19991118005 9055 G-A A-T MT-ATP6 Subfertile Unknown
19991118004 9150 G-A syn MT-ATP6 Control Unknown
19991118013 9150 A-G syn MT-ATP6 Control Unknown
19991118010 9377 G-A syn MT-CO3 Subfertile Unknown
19991118009 9380 G-A syn MT-CO3 Subfertile Unknown
19991118006 9477 G-A V-I MT-CO3 Control unknown
19991118007 9477 G-A V-I MT-CO3 Subfertile Unknown
19991118008 9548 G-A syn MT-CO3 Subfertile unknown
19991118011 9899 T-C syn MT-CO3 Control Unknown
19991118012 9941 A-G syn MT-CO3 Subfertile Unknown
20101129003 1406 T-C rRNA MT-RNR1 Nonsyndromic Hearing Loss Turkish
20101129001 1556 C-T rRNA MT-RNR1 Nonsyndromic Hearing Loss Turkish
20100125001 4611 A-G M-V MT-ND2 diabetes Tunisian
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
20080406002 14757 T-C M-T MT-CYB Cardiomyopathy Tunisian
20080406001 14935 T-C syn MT-CYB Cardiomyopathy Tunisian
20080406004 15220 A-G syn MT-CYB Cardiomyopathy Tunisian
20080406005 15344 T-C syn MT-CYB Cardiomyopathy Tunisian
20080406003 15434 C-A L-I MT-CYB Cardiomyopathy Tunisian
20080406006 15632 C-T syn MT-CYB Cardiomyopathy Tunisian
20080406007 15679 A-G syn MT-CYB Cardiomyopathy Tunisian
20080406008 15799 A-G syn MT-CYB Cardiomyopathy Tunisian
20100125002 16230 A-T non-coding Control Region diabetes;bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, pyramidal syndrome with calcification of basal ganglia and epilepsy Tunisian
20100204001 16328 C-G non-coding Control Region diabetes;bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, pyramidal syndrome with calcification of basal ganglia and epilepsy Tunisian
20110224001 10158 T-G S-A MT-ND3 LHON South Indian
20061030001 4206 A-G syn MT-ND1 Control south African Mixed Ancestry
20061030002 4232 T-C I-T MT-ND1 Huntington Disease-Like 2 south African Mixed Ancestry
20061030003 4505 C-T syn MT-ND2 Huntington Disease-Like 2 south African Mixed Ancestry
20040209024 10811 T-C S-P MT-ND4 Oral Cancer SINDHI
20040209025 10812 C-T S-F MT-ND4 Oral Cancer SINDHI
20040209026 10814 A-C K-Q MT-ND4 Oral Cancer SINDHI
20040209028 10845 C-T T-I MT-ND4 Oral Cancer SINDHI
20140513001 146 T-C non-coding Control Region Breast cancer Senegalese
20140422002 15556 C-G Syn MT-CYB Breast cancer Senegalese
20140422004 15580 C-T Syn MT-CYB Breast cancer Senegalese
20140422005 15581 A-G T-A MT-CYB Breast cancer Senegalese
20140422008 15590 C-A R-TERM MT-CYB Breast cancer Senegalese
20140422010 15595 C-T Syn MT-CYB Breast cancer Senegalese
20140422011 15596 G-A V-I MT-CYB Breast cancer Senegalese
20140422013 15614 G-A G-S MT-CYB Breast cancer Senegalese
20140422014 15619 G-A Syn MT-CYB Breast cancer Senegalese
20140422015 15622 T-G Syn MT-CYB Breast cancer Senegalese
20140422016 15628 A-C Syn MT-CYB Breast cancer Senegalese
20140422017 15629 T-C Syn MT-CYB Breast cancer Senegalese
20140422018 15631 A-G Syn MT-CYB Breast cancer Senegalese
20140422019 15637 C-G Syn MT-CYB Breast cancer Senegalese
20140422020 15637 C-T Syn MT-CYB Breast cancer Senegalese
20140422021 15640 C-T Syn MT-CYB Breast cancer Senegalese
20140422022 15641 C-T L-F MT-CYB Breast cancer Senegalese
20140422023 15643 C-T Syn MT-CYB Breast cancer Senegalese
20140422024 15646 C-T Syn MT-CYB Breast cancer Senegalese
20140422025 15653 A-G M-V MT-CYB Breast cancer Senegalese
20140422026 15654 T-C M-T MT-CYB Breast cancer Senegalese
20140422027 15655 A-C M-I MT-CYB Breast cancer Senegalese
20140422028 15664 C-A I-M MT-CYB Breast cancer Senegalese
20140423001 15667 C-T Syn MT-CYB Breast cancer Senegalese
20140423002 15689 A-T M-L MT-CYB Breast cancer Senegalese
20140423003 15700 C-T Syn MT-CYB Breast cancer Senegalese
20140423004 15704 C-A L-M MT-CYB Breast cancer Senegalese
20140423005 15704 C-T Syn MT-CYB Breast cancer Senegalese
20140423006 15732 C-T A-V MT-CYB Breast cancer Senegalese
20140423007 15749 C-T Syn MT-CYB Breast cancer Senegalese
20140423008 15754 C-A Syn MT-CYB Breast cancer Senegalese
20140423009 15767 C-A Q-K MT-CYB Breast cancer Senegalese
20140423010 15787 T-G F-L MT-CYB Breast cancer Senegalese
20140423011 15792 T-C I-T MT-CYB Breast cancer Senegalese
20070612001 4363 T-C tRNA MT-TQ Normal Saudi Arabs
20070612002 5843 A-G non-coding MT-TY Normal Saudi Arabs
20070612003 6546 C-T L-F MT-CO1 Normal Saudi Arabs
20070612004 9103 T-C F-L MT-ATP6 Normal Saudi Arabs
20070612005 9438 G-A G-S MT-CO3 Normal Saudi Arabs
20070612006 11337 A-G N-S MT-ND4 Normal Saudi Arabs
20070612007 12841 A-G I-V MT-ND5 Normal Saudi Arabs
20070612008 13813 G-A V-I MT-ND5 Normal Saudi Arabs
20040317012 3597 C-T syn MT-ND1 Normal Saudi Arab
20040317003 4203 A-G syn MT-ND1 Normal Saudi Arab
20040317011 4204 T-C syn MT-ND1 Normal Saudi Arab
20040317001 5360 C-T syn MT-ND2 Normal Saudi Arab
20040317010 7322 A-G syn MT-CO1 Normal Saudi Arab
20040317002 7364 A-G syn MT-CO1 Normal Saudi Arab
20040317004 10289 A-G syn MT-ND3 Normal Saudi Arab
20040317005 11399 T-C syn MT-ND4 Normal Saudi Arab
20040317006 11440 G-A syn MT-ND4 Normal Saudi Arab
20040317015 11620 A-G syn MT-ND4 Normal Saudi Arab
20040317009 11887 G-A syn MT-ND4 Normal Saudi Arab
20040317008 13500 T-C syn MT-ND5 Normal Saudi Arab
20040317013 13680 C-T syn MT-ND5 Normal Saudi Arab
20040317014 13752 T-C syn MT-ND5 Normal Saudi Arab
20040317007 14058 C-T syn MT-ND5 Normal Saudi Arab
20040317016 15235 A-G syn MT-CYB Normal Saudi Arab
20130520002 522 C-T non-coding Control Region   S\xE3o Paulo
20060913001 961 T-A rRNA MT-RNR1 Deafness Russian
20070709002 1557 A-C rRNA MT-RNR1 Deafness Russian
20060125001 15713 T-G S-A MT-CYB Epilepsy Russian
20000211006 16157 T-C noncod D-Loop - Rungus
20091005006 16176 C-G noncod D-Loop Normal Riau Malays
20000915002 447 C-G noncod D-Loop - Punjabi
20000211009 469 C-A noncod D-Loop - Punjabi
20000914005 16309 A-C noncod D-Loop - Punjabi
20000914006 16318 A-C noncod D-Loop - Punjabi
20040209016 11047 C-A syn MT-ND4 Oral Cancer MUSLIM
20040209017 11506 T-C syn MT-ND4 Oral Cancer MUSLIM
20000915003 16157 T-A noncod D-Loop - Murut
20000211007 16192 C-A noncod D-Loop - Murut
20000914004 16259 C-A noncod D-Loop - Murut
20000915001 16337 C-T noncod D-Loop - Murut
20041107006 3516 C-T syn MT-ND1 Type 2 Diabetes Mellitus Mongolia
20041107002 3605 T-C L-P MT-ND1 Type 2 Diabetes Mellitus Mongolia
20091005004 16194 A-C noncod D-Loop Normal Minangkabau and Banjar Malays
20040701009 16098 A-G non-coding Control Region Normal Mestizo
20040701011 16175 A-G non-coding Control Region Normal Mestizo
20040701010 16189 T-A non-coding Control Region Normal Mestizo
19990308003 3197 T-C noncod MT-RNR2 Encephalopathy Cardiomyopathy Mennonite
20040209044 10823 A-G M-V MT-ND4 Normal MARATHI
20040209011 10826 A-G I-V MT-ND4 Oral Cancer MARATHI
20040209014 10850 A-C S-R MT-ND4 Oral Cancer MARATHI
20040209036 10969 C-T syn MT-ND4 Oral Cancer MARATHI
20040209037 11054 C-A L-M MT-ND4 Oral Cancer MARATHI
20040209038 11067 A-T Q-L MT-ND4 Oral Cancer MARATHI
20040209039 11070 T-A I-N MT-ND4 Oral Cancer MARATHI
20040209040 11073 C-T S-F MT-ND4 Oral Cancer MARATHI
20040209041 11074 C-T syn MT-ND4 Oral Cancer MARATHI
20040209012 11075 T-C syn MT-ND4 Oral Cancer MARATHI
20040209051 11083 A-G syn MT-ND4 Normal MARATHI
20040209015 11140 C-G I-M MT-ND4 Oral Cancer MARATHI
20040209050 11467 A-G syn MT-ND4 Normal MARATHI
20040209042 11530 A-G M-Term MT-ND4 Oral Cancer MARATHI
20040209046 11818 A-C syn MT-ND4 Normal MARATHI
20040209021 11914 G-A syn MT-ND4 Oral Cancer MARATHI
20040209022 11969 G-A A-T MT-ND4 Oral Cancer MARATHI
20040209045 12052 A-G syn MT-ND4 Normal MARATHI
20040209023 11518 G-A syn MT-ND4 Oral Cancer MALAYALI
20091019002 129 T-C noncod D-Loop Normal Malay
20091019001 188 A-G noncod D-Loop Normal Malay
20000211005 329 G-A noncod D-Loop - Malay
20091006001 16207 A-G noncod D-Loop Normal Malay
20000211008 16317 A-C noncod D-Loop - Malay
20021231006 126 T-C noncod D-Loop Normal Madia Gond tribe
20021231007 163 A-G noncod D-Loop Normal Madia Gond tribe
20021231008 186 C-T noncod D-Loop Normal Madia Gond tribe
20021231009 189 T-C noncod D-Loop Normal Madia Gond tribe
20021231010 294 T-C noncod D-Loop Normal Madia Gond tribe
20110204001 6416 A-G syn MT-CO1 sensorimotor neuropathy, myopathy and hearing loss Korean
20091005007 16111 C-A noncod D-Loop Normal Kelantan Malays
20091006002 447 C-G noncod D-Loop Normal Kedah Malays
20091005003 16312 A-G noncod D-Loop Normal Kedah Malays
20030428001 47 G-A non-coding Control Region Normal Kazhakh
20030428002 75 G-A non-coding Control Region Normal Kazhakh
20030428003 16318 A-C non-coding Control Region Normal Kazhakh
20000914003 560 C-T noncod D-Loop - Kadazan-Dusun
20010927001 13239 C-T syn MT-ND5 Mental Retardation Italian
20160806004 96 C-A   CR:HVS2   Iranian
20161022001 1147 G-A noncod RNR1 hearing loss Iranian
20120618005 3893 C-G T-S MT-ND1 LHON Iranian
20120618004 4539 T-A S-T MT-ND2 LHON Iranian
20120618015 4596 G-A V-I MT-ND2 LHON Iranian
20120618006 4932 C-A L-I MT-ND2 LHON Iranian
20120618002 4941 T-A S-T MT-ND2 LHON Iranian
20160806002 8539 C-A ATP6: L-M, ATP8: I-M ATP8, ATP6 presbycusis Iranian
20160806003 8682 A-G sym ATP6 Presbycusis Iranian
20090609002 8862 A-G syn MT-ATP6 Epilepsy Iranian
20120618003 10399 C-T A-T MT-ND3 LHON Iranian
20120618007 10557 C-A L-I MT-ND4L LHON Iranian
20120618008 12012 C-A S-STOP MT-ND4 LHON Iranian
20120618001 12851 T-A V-I MT-ND5 LHON Iranian
20120618016 13255       LHON Iranian
20120618017 13255 T-A S-T MT-ND5 LHON Iranian
20120618014 13663 A-G I-V MT-ND5 LHON Iranian
20120618009 13934 C-T T-I MT-ND5 LHON Iranian
20120618010 14020 A-G SYN MT-ND5 LHON Iranian
20120618012 14353 T-C SYN MT-ND6 LHON Iranian
20160806005 15864 A-G E-G CYB   Iranian
20160806006 15906 A-T   tRNA.T   Iranian
20160806007 16046 T-G   CR:HVS1/HV1   Iranian
20120119001 650 T-C Noncod MT-TF normal Indonesian
20120124001 3873 A-G syn MT-ND1 Normal Indonesian
20120124002 5213       Normal Indonesian
20120124003 5213 C-G syn MT-ND2 Normal Indonesian
20120124004 6863 A-G syn MT-CO1 Normal Indonesian
20120124005 7894 A-G syn MT-CO2 Normal Indonesian
20120124006 8652 A-G syn MT-ATP6 Normal Indonesian
20120124007 8653 A-G syn MT-ATP6 Normal Indonesian
20120124008 10373 G-C syn MT-ND3 Normal Indonesian
20120124009 15211 C-T syn MT-CYB Normal Indonesian
20060605005 267 T-C non-coding Control Region Normal Indigenous Jehai
20060605001 16017 T-C tRNA MT-TP Normal Indigenous group-Temuan
20060605004 16327 C-A non-coding Control Region Normal Indigenous group-Bidayuh
20100908001 16325 T-C non-coding Control Region Oral cancer Indian-Bengali
20100908002 16391 G-T non-coding Control Region Oral cancer Indian-Bengali
20100822001 73 A-G non-coding Control Region Oral Cancer Indian- Bengali
20100908005 16261 C-T non-coding Control Region Oral cancer Indian- Bengali
20000211002 195 T-A noncod D-Loop - Indian
20000211003 246 T-C noncod D-Loop - Indian
20000211001 482 T-C noncod D-Loop - Indian
20000914002 485 T-C noncod D-Loop - Indian
20110421002 14884 C-T syn MT-CYB   Hispanic Father, Caucasian Mother
20110421003 15002 G-A G-S MT-CYB   Hispanic Father, Caucasian Mother
19990218007 3552 T-A syn MT-ND1 LHON Hispanic
19990218008 9545 A-G syn MT-CO3 LHON Hispanic
20081105001 1453 A-G noncod MT-RNR1 Non-Syndromic Hearing Impairment (NSHI) Hindu
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
20140217002 217 T-C non-coding Control Region sCJD Han Chinese
20140217001 235 A-G non-coding Control Region sCJD Han Chinese
20140218001 5800 A-G tRNA MT-TC Kallmann Syndrome Han Chinese
20140217018 6228 C-T L-F MT-CO1 sCJD Han Chinese
20140217003 9732 C-T L-L MT-CO3 sCJD Han Chinese
20140217004 9974 C-T I-I MT-CO3 sCJD Han Chinese
20081022001 10680 G-A A-T MT-ND4L LHON Han Chinese
20140217006 11375 A-C K-Q MT-ND4 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
20140217009 12297 T-C tRNA MT-TL2 sCJD Han Chinese
20140217010 12308 A-G tRNA MT-TL2 sCJD Han Chinese
20140217011 12326 A-G tRNA MT-TL2 sCJD Han Chinese
20140217008 12372 G-A L-L MT-ND5 sCJD Han Chinese
20140217012 12473 T-C I-T MT-ND5 sCJD Han Chinese
20140217013 12631 T-C S-P MT-ND5 sCJD Han Chinese
20140217019 14067 C-T T-T MT-ND5 sCJD Han Chinese
20140217014 14457 T-C M-V MT-ND6 sCJD Han Chinese
20140217015 14753 C-T P-S MT-CYB sCJD Han Chinese
20140217016 14980 C-A I-M MT-CYB sCJD Han Chinese
20140217017 15765 G-A G-E MT-CYB sCJD Han Chinese
20040209001 10817 A-T K-Term MT-ND4 Oral Cancer GUJARATI
20040209054 11050 T-C syn MT-ND4 Normal GUJARATI
20040209047 11314 A-C E-D MT-ND4 Normal GUJARATI
20040209055 11808 C-A T-N MT-ND4 Normal GUJARATI
20040209048 11827 T-C syn MT-ND4 Normal GUJARATI
20101129004 3316 G-A A-T MT-ND1 Nonsyndromic Hearing Loss FARS
20120907009 67 G-C noncod D-Loop   European
20120907006 74 T-G noncod D-Loop   European
20120907005 377         European
20120907002 2876         European
20120907001 5307         European
20120907008 5810         European
20120907010 7153         European
20120907016 7798         European
20120907013 8904         European
20120907015 8954         European
20120907007 9203         European
20120907011 13578         European
20120907012 13746         European
20120907014 13746         European
20120907003 13847         European
20120907017 15823         European
20040809001 3528 C-T syn MT-ND1 Myopathy Chinese-China
20080730001 16183 A-G noncod D-Loop - Chinese Tu ethnic group
20080730002 16184 C-G noncod D-Loop - Chinese Tu ethnic group
20060227001 12207 G-A tRNA MT-TS2 Mixed MELAS/MERRF Chinese mother and Caucasian father
20080730003 16189 T-A noncod D-Loop - Chinese Han ethnic group
20000211004 125 T-G noncod D-Loop - Chinese
19990511001 9053 G-A syn MT-ATP6 Normal Chinese
20080810001 16525 A-G noncod D-Loop FAP Chinese
20141116001 12350 C-A T 5 N MT-ND5 hearing loss + psychomotor delay Causasian / Africain
20140127001 14721 G-A tRNA MT-TE isolated complex IV deficiency Causacian
20140127002 15453 T-C L-P MT-CYB isolated complex III deficiency Causacian
20110314001 3197 T-C rRNA MT-RNR2 LHON Caucasion
20110314002 14258 G-A P-L MT-ND6 LHON Caucasion
20100729001 8682 A-G syn MT-ATP6 mitochondrial myopathy caucasienne
20121022005 1760       CAD patient Caucasian/Middle European
20121022003 2170       control/normal/healthy Caucasian/Middle European
20121022004 2412       control/normal/healthy Caucasian/Middle European
20121022001 6996       control/normal/healthy Caucasian/Middle European
20121022002 15246       control/normal/healthy Caucasian/Middle European
20120110001 3321       Cardiomyopathy Caucasian/Africain
20100920002 3395 A-G Y-C MT-ND1 Cardiomyopathy and hearing-loss Caucasian/Africain
20100519001 3861 A-G syn MT-ND1 Leigh Syndrome Caucasian/Africain
20080414002 4080 T-C syn MT-ND1 Cardiomyopathy Caucasian/Africain
20080117001 4313 T-C noncod MT-TI Deafness Caucasian/Africain
20100921001 4316 A-G tRNA MT-TI Cardiomyopathy and hearing-loss Caucasian/Africain
20070724001 4842 A-G T-A MT-ND2 Leigh Syndrome Caucasian/Africain
20070724003 4859 T-C syn MT-ND2 Leigh Syndrome Caucasian/Africain
20070724004 5453 A-G syn MT-ND2 Leigh Syndrome Caucasian/Africain
20070724005 5523 T-G non-coding MT-TW Leigh Syndrome Caucasian/Africain
20070724006 5556 G-A non-coding MT-TW Leigh Syndrome Caucasian/Africain
20070724007 5559 A-G non-coding MT-TW Leigh Syndrome Caucasian/Africain
20070724008 5618 T-G tRNA MT-TA Leigh Syndrome Caucasian/Africain
20070724009 5855 A-G non-coding MT-TY Leigh Syndrome Caucasian/Africain
20120312001 6498       Hearing loss and optic atrophy Caucasian/Africain
20080117002 7372 T-C M-T MT-CO1 Deafness Caucasian/Africain
20120110004 7498       Cardiomyopathy Caucasian/Africain
20120110003 7502       Cardiomyopathy Caucasian/Africain
20120110006 8047       Cardiomyopathy Caucasian/Africain
20070724010 8227 T-C syn MT-CO2 Leigh Syndrome Caucasian/Africain
20131120001 8241 T-G F-C MT-CO2 DIABETES Caucasian/Africain
20070724011 8248 A-G syn MT-CO2 Leigh Syndrome Caucasian/Africain
20070724012 8380 T-C syn MT-ATP8 Leigh Syndrome Caucasian/Africain
20070724013 8411 A-G M-V MT-ATP8 Leigh Syndrome Caucasian/Africain
20080117003 8649 A-G syn MT-ATP6 Deafness Caucasian/Africain
20080120004 8682 A-G syn MT-ATP6 Leigh-like syndrome Caucasian/Africain
20080117004 9329 G-A syn MT-CO3 Deafness Caucasian/Africain
20080120001 9335 C-T syn MT-CO3 KSS Caucasian/Africain
20120110002 9404       Leigh Syndrome Caucasian/Africain
20080117005 9467 T-C syn MT-CO3 Deafness Caucasian/Africain
20080117006 9495 T-C F-L MT-CO3 Deafness Caucasian/Africain
20120110005 9605       Cardiomyopathy Caucasian/Africain
20080117007 9617 A-G syn MT-CO3 Deafness Caucasian/Africain
20080117008 10308 C-T syn MT-ND3 Deafness Caucasian/Africain
20080120002 11362 A-G syn MT-ND4 KSS Caucasian/Africain
20080117010 11743 C-T syn MT-ND4 Deafness Caucasian/Africain
20080117009 11926 A-G syn MT-ND4 Deafness Caucasian/Africain
20080811002 13474 T-C syn MT-ND5 Leigh Syndrome Caucasian, Jew
20140214003 93 A-G non-coding Control Region Control Caucasian
20010303003 147 C-T noncod D-Loop Breast Cancer Caucasian
20140214005 189 A-G non-coding Control Region isolated complex IV deficiency Caucasian
20140214011 189 A-G non-coding Control Region isolated complex IV deficiency Caucasian
20140214014 189 A-G non-coding Control Region   Caucasian
20140214018 203 G-A non-coding Control Region   Caucasian
19990218005 216 T-C noncod D-Loop Hearing Loss Caucasian
20070527004 220 T-A non-coding Control Region Breast Cancer Caucasian
20050106002 262 C-T non-coding Control Region Normal Caucasian
20050106003 269 C-T non-coding Control Region Normal Caucasian
20040327001 288 A-G non-coding Control Region Pancreatic Ductal Adenocarcinoma Caucasian
20050106004 295 C-A non-coding Control Region Normal Caucasian
20050106005 324 C-T non-coding Control Region Normal Caucasian
19990218006 340 C-T noncod D-Loop Hearing Loss Caucasian
20050419001 480 T-C non-coding Control Region LHON Caucasian
20050106007 489 T-G non-coding Control Region Normal Caucasian
20140214007 496 C-T non-coding Control Region   Caucasian
20021231001 512 A-G noncod D-Loop Leigh Syndrome Caucasian
20071219001 689 T-C rRNA MT-RNR1 Normal Caucasian
20111230001 712 C-A rRNA MT-RNR1 non-syndromic hearing impairment Caucasian
20071219002 751 A-G rRNA MT-RNR1 Normal Caucasian
20111230002 786 G-A rRNA MT-RNR1 progressive non syndromic hearing loss Caucasian
20091029001 1453 A-G noncod MT-RNR1 Hearing loss Caucasian
20071219004 1556 C-T rRNA MT-RNR1 Normal Caucasian
20010301006 1703 C-T noncod MT-RNR2 Breast Cancer Caucasian
20060130005 1703 C-T rRNA MT-RNR2 Mental Retardation Caucasian
20070207001 1843 T-C rRNA MT-RNR2 Centenarian Caucasian
20070207002 1940 A-G rRNA MT-RNR2 Centenarian Caucasian
20070207003 2623 A-G rRNA MT-RNR2 Centenarian Caucasian
20021231003 3206 C-T noncod MT-RNR2 MELAS Caucasian
20051007006 3221 A-G rRNA MT-RNR2 - Caucasian
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
20060518004 3342 C-T syn MT-ND1 - Caucasian
20011206001 3351 C-T syn MT-ND1 Unknown cardio-facio-cutaneous syndrome Caucasian
20100429001 3355 A-G M-V MT-ND1 myopathy Caucasian
20021231013 3360 A-G syn MT-ND1 Leucodystrophy Caucasian
20040217001 3507 C-T syn MT-ND1 - Caucasian
20000825002 3547 A-G I-V MT-ND1 Pancreatic Cancer Caucasian
20051031001 3579 A-G syn MT-ND1 Encephalomyopathy Caucasian
20090714006 3609 C-T no MT-ND1 Aminoglycoside-induced hearing loss Caucasian
20000825017 3635 G-A S-N MT-ND1 Pancreatic Cancer Caucasian
20000825018 3670 G-A A-T MT-ND1 Pancreatic Cancer Caucasian
20000825019 3670 G-A A-T MT-ND1 Pancreatic Cancer Caucasian
20091229001 3710 C-T A-V MT-ND1 Breast Cancer Caucasian
20020409001 3741 C-T syn MT-ND1 MELAS Caucasian
20020410001 3741 C-T syn MT-ND1 MELAS Caucasian
20091229003 3803 T-C I-T MT-ND1 Breast Cancer Caucasian
20010301007 3921 C-A syn MT-ND1 Breast Cancer Caucasian
20060518005 3943 A-G I-V MT-ND1 - Caucasian
20000825009 3992 C-T T-M MT-ND1 Pancreatic Cancer Caucasian
20080414003 4017 C-T syn MT-ND1 Hypertrophic Cardiomyopathy Caucasian
20010303006 4021 A-G T-A MT-ND1 Breast Cancer Caucasian
20000825010 4024 A-G T-A MT-ND1 Pancreatic Cancer Caucasian
20060518006 4065 A-G syn MT-ND1 - Caucasian
20070527005 4246 A-G I-V MT-ND1 Breast Cancer Caucasian
20050318001 4310 A-G tRNA MT-TI - Caucasian
19990721001 4315 A-G noncod MT-TI Psychomotor retardation Caucasian
20091229005 4512 G-A A-T MT-ND2 Breast Cancer Caucasian
20000825014 4793 A-G syn MT-ND2 Pancreatic Cancer Caucasian
20000825003 4820 G-A syn MT-ND2 Pancreatic Cancer Caucasian
20010301003 4917 A-G N-D MT-ND2 - Caucasian
20040720014 4973 T-C syn MT-ND2 Breast Cancer Caucasian
20000825004 4977 T-C syn MT-ND2 Pancreatic Cancer Caucasian
20000825011 5004 T-C syn MT-ND2 Pancreatic Cancer Caucasian
20091229011 5134 A-G N-S MT-ND2 Breast Cancer Caucasian
20010301002 5198 A-G syn MT-ND2 - Caucasian
20040720015 5285 A-G syn MT-ND2 Breast Cancer Caucasian
20051007002 5315 A-G syn MT-ND2 Encephalomyopathy Caucasian
20000825015 5348 C-T syn MT-ND2 Pancreatic Cancer Caucasian
20010301004 5471 G-A syn MT-ND2 - Caucasian
19990303003 6045 C-T syn MT-CO1 Hearing Loss Caucasian
20090129001 6060 A-G I-V MT-CO1 COPD Caucasian
20090129002 6140 C-G syn MT-CO1 COPD Caucasian
20060515001 6164 C-T syn MT-CO1 Progeria Caucasian
20090129003 6179 G-A syn MT-CO1 COPD Caucasian
20090129004 6299 A-G syn MT-CO1 COPD Caucasian
20090129005 6383 G-A syn MT-CO1 COPD Caucasian
20090129006 6410 C-T syn MT-CO1 COPD Caucasian
20000825005 6473 C-T syn MT-CO1 Pancreatic Cancer Caucasian
20060515002 6641 T-A syn MT-CO1 Progeria Caucasian
20000402001 7058 T-C syn MT-CO1 Leigh Syndrome Caucasian
20111230004 7471 C-T tRNA MT-TS1 non syndromic hearing loss caucasian
20111230006 7746 A-G N-S MT-CO2 non-syndromic hearing impairment Caucasian
20060130003 7774 C-T syn MT-CO2 Encephalopathy Caucasian
20111230005 7792 C-T syn MT-CO2 non-syndromic hearing loss Caucasian
20050928001 7861 T-C syn MT-CO2 Encephalomyopathy Caucasian
20140214002 7989 T-C L-P (Leu135Pro) MT-CO2 control Caucasian
20060518001 8084 A-T T-A MT-CO2 Myoclonic Epilepsy Caucasian
20090129007 8137 C-T syn MT-CO2 COPD Caucasian
20080110006 8227 T-C syn MT-CO2 Leigh syndrome Caucasian
20040608001 8236 A-G syn MT-CO2 Subfertile Caucasian
20040608002 8309 C-T tRNA MT-TK Subfertile Caucasian
20040608003 8350 A-G tRNA MT-TK - Caucasian
20040608004 8388 T-C V-A MT-ATP8 - Caucasian
20060518002 8389 A-G syn MT-ATP8 - Caucasian
20120404001 8399 A-G T-A MT-ATP8 disregulation of the metabolism of fatty acids Caucasian
20021231004 8414 C-T L-F MT-ATP8 MERRF Caucasian
20021231005 8431 C-T S-L MT-ATP8 MERRF Caucasian
20030723002 8527 A-G M-V MT-ATP6 Encephalomyopathy plus other symptoms Caucasian
20030723003 8527 A-G syn MT-ATP8 Encephalomyopathy plus other symptoms Caucasian
20060130006 8538 T-C syn MT-ATP6 Myopathy Caucasian
20060130007 8538 T-C I-T MT-ATP8 Myopathy Caucasian
20060130004 8573 G-A G-D MT-ATP6 Encephalopathy Caucasian
20050917001 8598 T-C syn MT-ATP6 Myoclonic Epilepsy Caucasian
20050609001 8705 T-C M-T MT-ATP6 Myopathy Caucasian
20051007007 8750 T-C L-S MT-ATP6 Myopathy Caucasian
20090710001 8820 A-G syn MT-ATP6 Infertility Caucasian
20080111001 8860 A-G T-A MT-ATP6 Abdominal Aortic Aneurysm Caucasian
20050916001 8867 T-C I-T MT-ATP6 Myoclonic Epilepsy, bilateral ptosis Caucasian
20051007003 8901 A-G syn MT-ATP6 Encephalomyopathy Caucasian
20030723001 8932 C-T P-S MT-ATP6 Encephalomyopathy plus other symptoms Caucasian
20000825006 8957 T-C I-T MT-ATP6 Pancreatic Cancer Caucasian
19990721002 9007 A-G T-A MT-ATP6 MELAS-like Caucasian
20080729001 9058 A-G T-A MT-ATP6 Normal Caucasian
20090714007 9186 C-A syn MT-ATP6 Aminoglycoside-induced hearing loss Caucasian
20090129008 9242 A-G syn MT-CO3 COPD Caucasian
19990323003 9254 A-G syn MT-CO3 Myopathy Caucasian
19990323002 9293 C-T syn MT-CO3 Ophthalmoplegia,Deafness Caucasian
20030925001 9300 G-A A-T MT-CO3 Myopathy Caucasian
20060518003 9338 A-G syn MT-CO3 Myopathy Caucasian
19990323001 9380 G-A syn MT-CO3 Myopathy Caucasian
20021231011 9410 A-G syn MT-CO3 Myopathy Caucasian
20080414004 9425 A-G syn MT-CO3 Hypertrophic Cardiomyopathy Caucasian
20090129009 9590 A-G syn MT-CO3 COPD Caucasian
20070527003 9621 G-A A-T MT-CO3 Breast Cancer Caucasian
20040217002 9632 A-G syn MT-CO3 Encephalopathy, LHON Caucasian
20140214008 9769 T-C I-T (Ile188Thr) MT-CO3 myasthenia gravis Caucasian
20090129010 9806 C-T syn MT-CO3 COPD Caucasian
20090129011 9869 C-G syn MT-CO3 COPD Caucasian
20090129013 9933 C-A H-N MT-CO3 COPD Caucasian
20090129014 9987 T-A S-T MT-CO3 COPD Caucasian
20000825012 10044 A-G noncod MT-TG Pancreatic Cancer Caucasian
20001017011 10115 T-C syn MT-ND3 Lung Cancer Caucasian
20050928002 10230 G-C V-L MT-ND3 Optic Neuropathy, visual loss Caucasian
20140318001 10394 C-A D-E MT-ND3 Cardiomyopathy caucasian
20091228001 10649 T-C syn MT-ND4L NSHL Caucasian
20010303007 10707 T-G S-A MT-ND4L Breast Cancer Caucasian
20140214009 10866 T-C I-T (Ile36Thr) MT-ND4 myasthenia gravis Caucasian
20140214015 11050 T-C S-S MT-ND4   Caucasian
20010301001 11087 T-C F-L MT-ND4 - Caucasian
20000825007 11177 C-T P-S MT-ND4 Pancreatic Cancer Caucasian
20051225001 11260 T-A syn MT-ND4 LHON Caucasian
20060122001 11260 T-A syn MT-ND4 Mitochondrial Myopathy Caucasian
20040825001 11404 A-G syn MT-ND4 Postural Tachycardia Syndrome (POTS) Caucasian
20070527008 11503 C-G syn MT-ND4 Breast Cancer Caucasian
20070527006 11567 A-G I-V MT-ND4 Breast Cancer Caucasian
20060130002 11674 C-T syn MT-ND4 Mental Retardation Caucasian
20010303008 11696 G-A V-I MT-ND4 Breast Cancer Caucasian
20010303004 11723 A-G T-A MT-ND4 Breast Cancer Caucasian
20010303001 11734 A-G syn MT-ND4 Breast Cancer Caucasian
20051007005 11776 T-G S-Ter MT-ND4 - Caucasian
20040825002 11930 A-G I-V MT-ND4 Postural Tachycardia Syndrome (POTS) Caucasian
20140214001 12071 T-C Phe438Pro MT-ND4 control Caucasian
20080416001 12133 C-T syn MT-ND4 MELAS Caucasian
20010301008 12237 C-T noncod MT-TS2 Breast Cancer Caucasian
20010303002 12251 A-G noncod MT-TS2 Breast Cancer Caucasian
20070527001 12251 A-G tRNA MT-TS2 Breast Cancer Caucasian
20050803001 12557 C-T T-I MT-ND5 Encephalomyopathy Caucasian
20100212001 12588 C-T syn MT-ND5 sensorineural hearing loss Caucasian
20051007001 12621 C-A F-L MT-ND5 Encephalopathy Caucasian
20061011001 12622 G-A V-I MT-ND5 Leigh Syndrome Caucasian
20010822001 12813 C-T syn MT-ND5 Myopathy, Tremor Caucasian
20021231002 13020 T-C syn MT-ND5 Myopathy, Diabetes, CPEO, Deafness Caucasian
20110105001 13077 C-T Leu247Leu MT-ND5 NSHL Caucasian
20090910001 13468 C-A L-M MT-ND5 Aminoglycoside-induced hearing loss Caucasian
20061011002 13511 A-T K-M MT-ND5 Leigh Syndrome Caucasian
20000825020 13780 A-G I-V MT-ND5 Pancreatic Cancer Caucasian
20000825001 13943 C-T M-V MT-ND5 Pancreatic Cancer Caucasian
20040720016 14207 G-A T-I MT-ND6 Breast Cancer Caucasian
20040726001 14207 G-A T-I MT-ND6 LHON Caucasian
19990324002 14470 T-C syn MT-ND6 MELAS(3243) Caucasian
20060130001 14552 A-G V-A MT-ND6 Leucodystrophy Caucasian
20000825013 14582 A-G V-A MT-ND6 Pancreatic Cancer Caucasian
20010303005 14783 T-C L-I MT-CYB Breast Cancer Caucasian
20021231012 14849 T-C S-P MT-CYB Septo-optic Dysplasia Caucasian
20001016001 14872 C-T syn MT-CYB Myopathy Caucasian
20011206002 15016 C-T syn MT-CYB Myopathy (unknown) Caucasian
20020410002 15034 A-G syn MT-CYB Myopathy (unknown), Bilateral Ptosis Caucasian
20000825016 15045 G-A R-Q MT-CYB Pancreatic Cancer Caucasian
20080414001 15064 A-G syn MT-CYB Cardiomyopathy Caucasian
19990323004 15088 C-T syn MT-CYB Myopathy Caucasian
19990324003 15115 T-C syn MT-CYB Ocular Myopathy Caucasian
19990507001 15244 A-G syn MT-CYB Ocular Myopathy Caucasian
20010301005 15257 G-A D-N MT-CYB Breast Cancer Caucasian
20020410003 15310 T-C syn MT-CYB Myopathy (unknown), Bilateral Ptosis Caucasian
20040217004 15519 T-C L-P MT-CYB Infarct Cerebri Multiplex, more Caucasian
19990324001 15721 T-C syn MT-CYB LHON Caucasian
20000825008 15734 G-A A-T MT-CYB Pancreatic Cancer Caucasian
20000825021 15758 A-G I-V MT-CYB Pancreatic Cancer Caucasian
20040217003 15763 A-G syn MT-CYB Encephalomyopathy Caucasian
19990721003 15772 A-G syn MT-CYB Myopathy Caucasian
20100212002 16079 C-T non-coding Control Region Non-syndromic hearing loss Caucasian
20001017001 16170 A-G noncod D-Loop Lung Cancer Caucasian
20050419002 16174 C-A non-coding Control Region LHON Caucasian
20050419003 16176 C-A non-coding Control Region LHON Caucasian
20050106001 16190 C-A non-coding Control Region Normal Caucasian
20050419004 16219 A-T non-coding Control Region LHON Caucasian
20050309001 16239 C-A non-coding Control Region Myopathy, tremor Caucasian
20050419005 16242 C-A non-coding Control Region LHON Caucasian
20040327003 16279 C-T non-coding Control Region Pancreatic Ductal Adenocarcinoma Caucasian
20140214006 16428 G-A non-coding Control Region isolated complex IV deficiency Caucasian
20070527002 16504 G-A non-coding Control Region Breast Cancer Caucasian
20070527007 16527 C-T non-coding Control Region Breast Cancer Caucasian
20091005001 16111 C-G noncod D-Loop Normal Bugis Malays
20000224001 16187 C-G noncod D-Loop - Bisaya
20040209007 12007 G-A syn MT-ND4 Oral Cancer Bengali
20060803001 8463 A-G Y-C MT-ATP8 Down's syndrome Belarusian
20091005002 16246 A-T noncod D-Loop Normal Banjar Malays
20091005005 16301 C-T noncod D-Loop Normal Banjar Malays
20100908009 73 A-G non-coding Control Region Oral Submucous Fibrosis Asian-Bengali
20101227001 263 A-G non-coding Control Region Oral cancer Asian-Bengali
20101227002 489 T-C non-coding Control Region Oral cancer Asian-Bengali
20101227005 16145 G-A non-coding Control Region Oral cancer Asian-Bengali
20100908008 16189 T-C non-coding Control Region Oral cancer Asian-Bengali
20100908006 16223 C-T non-coding Control Region Oral cancer Asian-Bengali
20100908003 16311 T-C non-coding Control Region Oral cancer Asian-Bengali
20041220005 1719 G-A rRNA MT-RNR2 Oral Cancer Asian Indian-Muslim
20041220004 1811 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Muslim
20041210005 8137 C-T syn MT-CO2 Oral Cancer Asian Indian-Muslim
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
20041220014 2361 G-A rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220003 2644 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220015 3116 C-T rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20041210003 7702 G-A syn MT-CO2 Oral Cancer Asian Indian-Marathi
20041210007 7837 T-C syn MT-CO2 Oral Cancer Asian Indian-Marathi
20041210004 7843 A-G syn MT-CO2 Oral Cancer Asian Indian-Marathi
20041210008 7999 T-C syn MT-CO2 Oral Cancer Asian Indian-Marathi
20041210009 8212 C-T syn MT-CO2 Oral Cancer Asian Indian-Malayali
20041220013 1811 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Gujarati
20041220006 2715 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Gujarati
20041210011 8266 A-T syn MT-CO2 Oral Cancer Asian Indian-Gujarati
20041210001 8158 A-G syn MT-CO2 Oral Cancer Asian Indian-Bengali
20041210002 8251 G-A syn MT-CO2 Oral Cancer Asian Indian-Bengali
20030528127 91 C-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528128 102 A-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528129 103 G-A non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528130 104 C-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528131 114 C-T non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528132 122 C-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528133 125 T-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528134 142 T-C non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528135 144 C-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528136 172 T-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528126 16098 A-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528069 97 G-C non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528070 98 C-T non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528085 260 G-C non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528086 263 A-G non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528087 271 C-A non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528060 16113 A-C non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528081 16126 T-C non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528082 16181 A-G non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528083 16209 T-C non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528061 16309 A-G non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528062 16318 A-T non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528063 16362 T-G non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528064 16363 C-G non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528078 33 C-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529017 34 G-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529018 43 C-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528079 55 T-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528080 60 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528022 81 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528023 85 G-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528024 94 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529019 105 C-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528025 109 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528026 131 T-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528030 151 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528028 152 T-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528031 152 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529020 159 T-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528029 165 A-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529023 186 C-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528033 193 A-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528054 195 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528056 226 T-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528057 229 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528058 231 C-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528035 237 A-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528036 238 A-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528037 257 A-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528038 16025 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528039 16035 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528073 16057 C-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528074 16061 T-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528041 16067 C-A 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
20030528108 16093 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528043 16111 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528044 16129 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528075 16192 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529014 16213 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
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
20030528014 16242 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528046 16266 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528076 16274 G-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528077 16278 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528015 16292 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528109 16298 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528047 16318 A-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528048 16320 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528110 16327 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528049 16362 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
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
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
20030528118 174 C-A non-coding Control Region Oral Cancer Asian Indian- Malayali
20030528119 178 A-T non-coding Control Region Oral Cancer Asian Indian- Malayali
20030528117 16318 A-C non-coding Control Region Oral Cancer Asian Indian- Malayali
20030528122 63 T-G non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030528123 66 G-A non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030528124 74 T-G non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030527003 125 T-A non-coding Control Region Oral Cancer Asian Indian- Gujarati
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
20030527008 209 T-A non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030527010 224 T-G non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030527001 16051 A-T non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030528088 16051 A-G non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030527002 16052 C-T non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030528090 16234 C-T non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030528120 16275 A-G non-coding Control Region Oral Cancer Asian Indian- Gujarati
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
20030528121 16438 G-A non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030529001 53 G-T non-coding Control Region Oral Cancer Asian Indian- Bihari
20030529004 164 C-A non-coding Control Region Oral Cancer Asian Indian- Bihari
20030527035 178 A-G non-coding Control Region Oral Cancer Asian Indian- Bengali
20030527038 228 G-C non-coding Control Region Oral Cancer Asian Indian- Bengali
20030527039 238 A-T non-coding Control Region Oral Cancer Asian Indian- Bengali
20030527040 239 T-G non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528001 263 A-C non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528002 264 C-G non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528003 265 T-C non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528004 268 C-G non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528005 271 C-G non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528006 273 C-A non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528007 283 A-T non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528008 284 A-T non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528009 287 A-T non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528010 288 A-T non-coding Control Region Oral Cancer Asian Indian- Bengali
20030527028 16024 T-C non-coding Control Region Oral Cancer Asian Indian- Bengali
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
20030527032 16239 C-T non-coding Control Region Oral Cancer Asian Indian- Bengali
20030527033 16289 A-G non-coding Control Region Oral Cancer Asian Indian- Bengali
20041220001 2706 A-G rRNA MT-RNR2 Oral Cancer Asian Indian - Gujarati
20030529043 48 C-G non-coding Control Region Oral Cancer Asian Indian
20140729001 50 T-C non-coding Control Region CAD+T2DM Asian Indian
20030527020 72 T-G non-coding Control Region Oral Cancer Asian Indian
20030527021 73 A-G non-coding Control Region Oral Cancer Asian Indian
20030529044 76 C-G non-coding Control Region Oral Cancer Asian Indian
20030529045 77 A-G non-coding Control Region Oral Cancer Asian Indian
20030529046 79 G-C non-coding Control Region Oral Cancer Asian Indian
20030529047 81 G-C non-coding Control Region Oral Cancer Asian Indian
20030529010 88 T-A non-coding Control Region Oral Cancer Asian Indian
20030529036 96 C-A non-coding Control Region Oral Cancer Asian Indian
20030529037 108 A-G non-coding Control Region Oral Cancer Asian Indian
20030529011 119 T-G non-coding Control Region Oral Cancer Asian Indian
20140729002 120 C-A non-coding Control Region CAD+T2DM Asian Indian
20030529048 121 G-C non-coding Control Region Oral Cancer Asian Indian
20030528151 124 G-A non-coding Control Region Oral Cancer Asian Indian
20030527022 131 T-C non-coding Control Region Oral Cancer Asian Indian
20030528027 135 T-G 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
20030527005 150 C-T non-coding Control Region Oral Cancer Asian Indian
20030527025 154 T-A non-coding Control Region Oral Cancer Asian Indian
20030529040 155 T-A non-coding Control Region Oral Cancer Asian Indian
20030529030 162 C-G non-coding Control Region Oral Cancer Asian Indian
20030528154 164 C-G non-coding Control Region Oral Cancer Asian Indian
20140724002 170 C-A non-coding Control Region CAD+T2DM Asian Indian
20030529032 173 T-C non-coding Control Region Oral Cancer Asian Indian
20030529013 180 T-A non-coding Control Region Oral Cancer Asian Indian
20030527027 204 T-C non-coding Control Region Oral Cancer Asian Indian
20030527037 227 A-C non-coding Control Region Oral Cancer Asian Indian
20140729003 369 C-T non-coding Control Region CAD+T2DM Asian Indian
20140729004 1597 C-A rRNA MT-RNR1 CAD+T2DM Asian Indian
20041220011 1700 T-C rRNA MT-RNR2 Oral Cancer Asian Indian
20041220002 1780 T-C rRNA MT-RNR2 Oral Cancer Asian Indian
20041220016 2396 C-T rRNA MT-RNR2 Oral Cancer Asian Indian
20140729007 2435 G-T rRNA MT-RNR2 CAD+T2DM Asian Indian
20041220012 3197 T-C rRNA MT-RNR2 Oral Cancer Asian Indian
20041220017 3220 A-G rRNA MT-RNR2 Oral Cancer Asian Indian
20090315002 3316 G-A A-T MT-ND1 Uterine Leiomyomas Asian Indian
20090315005 3327 A-C syn MT-ND1 Uterine Leiomyomas Asian Indian
20090315004 3342 C-A syn MT-ND1 Uterine Leiomyomas Asian Indian
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
20090315003 3442 C-T syn MT-ND1 Uterine Leiomyomas Asian Indian
20140729009 3444 A-T syn MT-ND1 CAD+T2DM Asian Indian
20140729010 3900 C-G F-L MT-ND1 CAD+T2DM Asian Indian
20140729011 3959 G-A G-D MT-ND1 CAD+T2DM Asian Indian
20140729012 4573 T-A M-K MT-ND2 CAD+T2DM Asian Indian
20140730001 4771 C-G A-G MT-ND2 CAD+T2DM Asian Indian
20140731001 4927 T-C L-P MT-ND2 CAD Asian Indian
20140731002 5015 C-T syn MT-ND2 CAD Asian Indian
20140730003 6576 G-A G-Term MT-CO1 CAD+T2DM Asian Indian
20140730004 6677 A-G syn MT-CO1 CAD+T2DM Asian Indian
20041210013 7762 G-A syn MT-CO2 Oral Cancer Asian Indian
20041210006 7954 T-C syn MT-CO2 Oral Cancer Asian Indian
20041210014 7961 T-C syn MT-CO2 Oral Cancer Asian Indian
20041210012 7993 T-C syn MT-CO2 Oral Cancer Asian Indian
20041210010 8206 G-A syn MT-CO2 Oral Cancer Asian Indian
20140730005 10236 A-G I-V MT-ND3 CAD+T2DM Asian Indian
20140730006 10331 C-T syn MT-ND3 CAD+T2DM Asian Indian
20140731003 10592 C-T syn MT-ND4L CAD Asian Indian
20140730007 10668 G-A A-T MT-ND4L CAD+T2DM Asian Indian
20040209002 10873 T-C syn MT-ND4 Oral Cancer Asian Indian
20140730008 10888 C-A N-K MT-ND4 CAD+T2DM Asian Indian
20040209003 11016 G-A S-N MT-ND4 Oral Cancer Asian Indian
20040209030 11023 A-G syn MT-ND4 Oral Cancer Asian Indian
20140730009 11081 A-G M-V MT-ND4 CAD+T2DM Asian Indian
20040209004 11083 A-G syn MT-ND4 Oral Cancer Asian Indian
20040209031 11215 C-T syn MT-ND4 Oral Cancer Asian Indian
20040209033 11332 C-T syn MT-ND4 Oral Cancer Asian Indian
20140730010 11336 A-C N-H MT-ND4 CAD+T2DM Asian Indian
20040209032 11339 T-C syn MT-ND4 Oral Cancer Asian Indian
20040209018 11467 A-G syn MT-ND4 Oral Cancer Asian Indian
20140730012 11528 A-C M-L MT-ND4 CAD+T2DM Asian Indian
20040209005 11719 G-A syn MT-ND4 Oral Cancer Asian Indian
20040209006 11855 A-C N-H MT-ND4 Oral Cancer Asian Indian
20140731004 12437 A-C H-P MT-ND5 CAD+T2DM Asian Indian
20140731005 12578 A-C K-T MT-ND5 CAD+T2DM Asian Indian
20140731006 12581 T-C L-P MT-ND5 CAD+T2DM Asian Indian
20140731007 12611 T-C V-A MT-ND5 CAD+T2DM Asian Indian
20140731009 15054 A-G Y-C MT-CYB CAD+T2DM Asian Indian
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
20140731013 15785 T-A F-I MT-CYB CAD+T2DM Asian Indian
20140731015 15869 A-T K-Term MT-CYB CAD+T2DM Asian Indian
20030528137 16040 C-G non-coding Control Region Oral Cancer Asian Indian
20030215001 16054 A-C non-coding Control Region Oral Cancer Asian Indian
20030528102 16069 C-T non-coding Control Region Oral Cancer Asian Indian
20030529024 16099 G-T non-coding Control Region Oral Cancer Asian Indian
20030529007 16100 A-G non-coding Control Region Oral Cancer Asian Indian
20030529033 16102 T-A non-coding Control Region Oral Cancer Asian Indian
20030529034 16103 A-T non-coding Control Region Oral Cancer Asian Indian
20030527011 16110 G-T non-coding Control Region Oral Cancer Asian Indian
20030528156 16134 C-T non-coding Control Region Oral Cancer Asian Indian
20030529041 16138 A-G non-coding Control Region Oral Cancer Asian Indian
20030528103 16145 G-A non-coding Control Region Oral Cancer Asian Indian
20030529008 16147 C-T non-coding Control Region Oral Cancer Asian Indian
20030527012 16172 T-C non-coding Control Region Oral Cancer Asian Indian
20030529025 16187 C-T non-coding Control Region Oral Cancer Asian Indian
20030529009 16201 C-T non-coding Control Region Oral Cancer Asian Indian
20030528104 16222 C-T non-coding Control Region Oral Cancer Asian Indian
20030527013 16223 C-T non-coding Control Region Oral Cancer Asian Indian
20030528105 16235 A-G non-coding Control Region Oral Cancer Asian Indian
20030528138 16256 C-T non-coding Control Region Oral Cancer Asian Indian
20030528106 16261 C-T non-coding Control Region Oral Cancer Asian Indian
20030527014 16270 C-T non-coding Control Region Oral Cancer Asian Indian
20030527015 16274 G-A non-coding Control Region Oral Cancer Asian Indian
20030528107 16294 C-T non-coding Control Region Oral Cancer Asian Indian
20030215002 16304 T-C non-coding Control Region Oral Cancer Asian Indian
20030215003 16311 T-C non-coding Control Region Oral Cancer Asian Indian
20030527016 16319 G-A non-coding Control Region Oral Cancer Asian Indian
20030528148 16324 T-C non-coding Control Region Oral Cancer Asian Indian
20030527017 16352 T-C non-coding Control Region Oral Cancer Asian Indian
20030528149 16355 C-T non-coding Control Region Oral Cancer Asian Indian
20030528157 16356 T-C non-coding Control Region Oral Cancer Asian Indian
20030529042 16359 T-G 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
20030528139 16399 A-G non-coding Control Region Oral Cancer Asian Indian
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
20030529029 157 T-A non-coding Control Region Oral Cancer Asian India
20140407001 120 C-A non-coding Control Region NON CODING ASIAN
20030916001 146 T-A non-coding Control Region Liver Cancer Asian
20040713010 251 G-A non-coding Control Region Esophageal Cancer Asian
20040720001 251 G-A non-coding Control Region Breast Cancer Asian
20030916002 259 A-G non-coding Control Region Liver Cancer Asian
20040720002 260 G-A non-coding Control Region Breast Cancer Asian
20040713011 481 C-T non-coding Control Region Esophageal Cancer Asian
20040720003 481 C-T non-coding Control Region Breast Cancer Asian
20030916003 504 T-C non-coding Control Region Liver Cancer Asian
20040720004 530 C-T non-coding Control Region Breast Cancer Asian
20040720005 556 A-T non-coding Control Region Breast Cancer Asian
20040720006 570 C-A non-coding Control Region Breast Cancer Asian
20040720007 574 A-C non-coding Control Region Breast Cancer Asian
20040720008 576 A-C non-coding Control Region Breast Cancer Asian
20040720009 593 T-C tRNA MT-TF Breast Cancer Asian
20040713001 3571 C-T L-F MT-ND1 Oral Cancer Asian
20110801006 4254 T-C syn MT-ND1   ASIAN
20040713002 4510 T-G F-C MT-ND2 Oral Cancer Asian
20040720010 4562 A-G syn MT-ND2 Breast Cancer Asian
20110801005 4730 C-T syn MT-ND2 NORMAL ASIAN
20110801002 5082 T-C syn MT-ND2 Hearing Impairment and Diabetes ASIAN
20080520001 5432 A-G syn MT-ND2 Ptosis, eye pain Asian
20080520002 5558 A-G noncod MT-TW Ophthalmoparesis, single eye ptosis Asian
20080520003 5585 G-A noncod MT-NC3 Ophthalmoparesis, single eye ptosis Asian
20110801007 5743 C-G non-coding MT-OLR Hearing Impairment ASIAN
20110801003 6290 C-T syn MT-CO1 NORMAL ASIAN
20030918001 6338 A-G syn MT-CO1 Liver Cancer Asian
20040713003 7142 T-C syn MT-CO1 Oral Cancer Asian
20110722001 7455 A-G tRNA MT-TS1 HEARING IMPAIRED ASIAN
20040713008 7711 T-C syn MT-CO2 Esophageal Cancer Asian
20110801008 7885 T-C syn MT-CO2 NORMAL ASIAN
20040713009 7910 G-C E-Q MT-CO2 Esophageal Cancer Asian
20040713012 7912 G-C E-D MT-CO2 Esophageal Cancer Asian
20040713004 7961 T-C syn MT-CO2 Oral Cancer Asian
20110801009 8394 C-T P-L MT-ATP8 NORMAL ASIAN
19990308004 8584 G-A A-T MT-ATP6 DIDMOAD Asian
20110801011 8855 C-T A-V MT-ATP6 NORMAL ASIAN
20040713013 9182 G-A S-N MT-ATP6 Esophageal Cancer Asian
20030918002 9254 A-G syn MT-CO3 Liver Cancer Asian
20030918003 9530 T-C syn MT-CO3 Liver Cancer Asian
20110801016 9581 T-C syn MT-CO3 Mild Hearing loss Asian
20110801012 9635 A-G syn MT-CO3 NORMAL ASIAN
20030918004 10153 A-C E-A MT-ND3 Liver Cancer Asian
20040713014 10282 T-A L-Q MT-ND3 Esophageal Cancer Asian
20110801004 10577 A-G syn MT-ND4L NORMAL ASIAN
20030918005 11015 A-G S-G MT-ND4 Liver Cancer Asian
20040713005 11407 C-T syn MT-ND4 Oral Cancer Asian
20040720011 11878 T-C syn MT-ND4 Breast Cancer Asian
20110801015 11965 C-G syn MT-ND4 NORMAL ASIAN
20040713015 11976 A-C Y-S MT-ND4 Esophageal Cancer Asian
20040713006 12284 C-T tRNA MT-TL2 Oral Cancer Asian
20040720012 12438 T-C syn MT-ND5 Breast Cancer Asian
20110801001 12474 C-T syn MT-ND5 HEARING IMPAIRED and NORMAL ASIAN
20040720013 12630 G-A syn MT-ND5 Breast Cancer Asian
20080520004 12705 C-T syn MT-ND5 Ophthalmoparesis, single eye ptosis Asian
20040713016 12957 T-C syn MT-ND5 Esophageal Cancer Asian
20110801013 13005 A-G syn MT-ND5 NORMAL ASIAN
20110801010 13476 A-G syn MT-ND5 NORMAL ASIAN
20110801014 13659 T-C syn MT-ND5 NORMAL ASIAN
20030918006 14388 A-G syn MT-ND6 Liver Cancer Asian
20030918008 15323 G-A A-T MT-CYB Liver Cancer Asian
20040713007 15481 C-T syn MT-CYB Oral Cancer Asian
20030918009 15859 A-G syn MT-CYB Liver Cancer Asian
20070208002 3397 A-G M-V MT-ND1 Type 2 Diabetes Mellitus Ashkenazi Jew
20050919001 722 C-G rRNA MT-RNR1 Normal Arabs
20050919002 723 A-G rRNA MT-RNR1 Normal Arabs
20050919003 827 A-G rRNA MT-RNR1 Normal Arabs
20050919004 1018 G-A rRNA MT-RNR1 Normal Arabs
20050919005 1189 T-C rRNA MT-RNR1 Normal Arabs
20050919006 1245 T-G rRNA MT-RNR1 Normal Arabs
20050919007 1721 C-T rRNA MT-RNR2 Normal Arabs
20050919008 1811 A-G rRNA MT-RNR2 Normal Arabs
20050919009 1837 C-A rRNA MT-RNR2 Normal Arabs
20050919010 1845 C-A rRNA MT-RNR2 Normal Arabs
20050919011 2355 A-G rRNA MT-RNR2 Normal Arabs
20050919012 2442 T-C rRNA MT-RNR2 Normal Arabs
20050919013 2451 A-C rRNA MT-RNR2 Normal Arabs
20050919014 2505 A-C rRNA MT-RNR2 Normal Arabs
20050919015 2706 A-G rRNA MT-RNR2 Normal Arabs
20050919032 3527 C-A A-D MT-ND1 Normal Arabs
20040210001 3531 G-A syn MT-ND1 NAION Arabs
20040210002 3594 C-T syn MT-ND1 NAION Arabs
20031029001 3645 T-C syn MT-ND1 LHON Arabs
20040210003 3768 A-G syn MT-ND1 NAION Arabs
20040210004 3834 G-A syn MT-ND1 NAION Arabs
20040210005 3847 T-C syn MT-ND1 NAION Arabs
20050919016 3847 T-C syn MT-ND1 Normal Arabs
20050809001 3866 T-C I-T MT-ND1 Normal Arabs
20040210006 3921 C-A syn MT-ND1 NAION Arabs
20040912001 3993 A-G syn MT-ND1 Normal Arabs
20050813001 4012 A-G T-A MT-ND1 Normal Arabs
20040912002 4013 C-G T-S MT-ND1 Normal Arabs
20040210007 4092 G-A syn MT-ND1 NAION Arabs
20040210008 4104 A-G syn MT-ND1 NAION Arabs
20050813014 4216 T-C Y-H MT-ND1 Normal Arabs
20040210009 4257 A-G syn MT-ND1 NAION Arabs
20050813002 4734 A-G T-A MT-ND2 Normal Arabs
20050813003 4767 A-G M-V MT-ND2 Normal Arabs
20050919017 4769 A-G syn MT-ND2 Normal Arabs
20050809002 4904 C-A I-M MT-ND2 Normal Arabs
20050809003 4917 A-G N-D MT-ND2 Normal Arabs
20050809004 5263 C-T A-V MT-ND2 Normal Arabs
20050813016 5460 G-A A-T MT-ND2 Normal Arabs
20050919018 5836 A-G non-coding MT-TY Normal Arabs
20050919019 5913 G-A D-N MT-CO1 Normal Arabs
20050919020 5981 T-C syn MT-CO1 Normal Arabs
20050809005 6040 A-G N-S MT-CO1 Normal Arabs
20040210010 6386 C-T syn MT-CO1 NAION Arabs
20050813004 7278 T-C F-L MT-CO1 Normal Arabs
20050809006 7521 G-T tRNA MT-TD Normal Arabs
20050809007 7646 A-C I-L MT-CO2 Normal Arabs
20050813005 8271 A-G non-coding MT-NC7 Normal Arabs
20040210011 8386 C-T syn MT-ATP8 NAION Arabs
20040210012 8559 C-T syn MT-ATP6 NAION Arabs
20040210026 8559 C-T P-L MT-ATP8 NAION Arabs
20050809008 8566 A-G syn MT-ATP8 Normal Arabs
20050809009 8566 A-G I-V MT-ATP6 Normal Arabs
20040210013 8577 A-G syn MT-ATP6 NAION Arabs
20050809010 8587 G-A V-M MT-ATP6 Normal Arabs
20050809011 8684 C-T T-I MT-ATP6 Normal Arabs
20050809012 8701 A-G T-A MT-ATP6 Normal Arabs
20070327001 8741 T-G L-R MT-ATP6 Normal Arabs
20070327002 8795 A-G H-R MT-ATP6 Normal Arabs
20070327004 8816 A-G Q-R MT-ATP6 Leigh Syndrome Arabs
20040210014 8865 G-A syn MT-ATP6 NAION Arabs
20050919033 8877 T-A F-L MT-ATP6 Normal Arabs
20070327005 9012 T-G syn MT-ATP6 Leigh Syndrome Arabs
20070327003 9024 A-G syn MT-ATP6 Normal Arabs
20070327006 9111 T-C syn MT-ATP6 Leigh Syndrome Arabs
20050809013 9337 T-C M-T MT-CO3 Normal Arabs
20050919034 9477 G-A V-I MT-CO3 Normal Arabs
20031029002 9509 T-C syn MT-CO3 LHON Arabs
20050809014 9539 A-T Q-H MT-CO3 Normal Arabs
20050813018 9675 A-C N-H MT-CO3 Normal Arabs
20031029003 9794 A-G syn MT-CO3 LHON Arabs
20040912003 9822 C-T L-F MT-CO3 Normal Arabs
20050813019 10031 T-C tRNA MT-TG Normal Arabs
20050813006 10034 T-C tRNA MT-TG Normal Arabs
20050919035 10079 A-C L-F MT-ND3 Normal Arabs
20070327007 10098 G-A A-T MT-ND3 Deafness Arabs
20050809015 10143 G-A G-S MT-ND3 Normal Arabs
20050813007 10159 C-G S-C MT-ND3 Normal Arabs
20050919021 10238 T-C syn MT-ND3 Normal Arabs
20050919022 10262 A-G syn MT-ND3 Normal Arabs
20070327008 10265 T-C syn MT-ND3 Leigh Syndrome Arabs
20050919036 10398 A-G T-A MT-ND3 Normal Arabs
20050809016 10668 G-A A-T MT-ND4L Normal Arabs
20050813008 10883 T-A F-I MT-ND4 Normal Arabs
20050813009 10885 T-A F-L MT-ND4 Normal Arabs
20001017008 11152 T-C syn MT-ND4 Lung Cancer Arabs
20040210022 11362 A-G syn MT-ND4 NAION Arabs
20040210023 11422 C-T syn MT-ND4 NAION Arabs
20040210024 11761 C-T syn MT-ND4 NAION Arabs
20050813010 11830 T-G F-L MT-ND4 Normal Arabs
20070327009 11875 T-C syn MT-ND4 Leigh Syndrome Arabs
20040210025 11935 T-C syn MT-ND4 NAION Arabs
20070327010 12609 T-C syn MT-ND5 Leigh Syndrome Arabs
20070327011 12714 T-C syn MT-ND5 Leigh Syndrome Arabs
20040210015 12822 A-G syn MT-ND5 NAION Arabs
20040210016 13188 C-T syn MT-ND5 NAION Arabs
20041212001 13539 A-G syn MT-ND5 LHON Arabs
20050919024 13617 T-C syn MT-ND5 Normal Arabs
20050919037 13637 A-G Q-R MT-ND5 Normal Arabs
20050813021 13708 G-A A-T MT-ND5 Normal Arabs
20050813011 13780 A-G I-V MT-ND5 Normal Arabs
20040912004 13811 C-G A-G MT-ND5 Normal Arabs
20040912005 13817 C-T T-I MT-ND5 Normal Arabs
20050809017 13934 C-T T-M MT-ND5 Normal Arabs
20040210017 14094 T-C syn MT-ND5 NAION Arabs
20070327012 14179 A-G syn MT-ND6 Leigh Syndrome Arabs
20050919025 14281 C-A syn MT-ND6 Normal Arabs
20040210018 14662 A-G syn MT-ND6 NAION Arabs
20050813022 14831 G-A A-T MT-CYB Normal Arabs
20040210019 14905 G-A syn MT-CYB NAION Arabs
20050813012 15218 A-G T-A MT-CYB Normal Arabs
20050813023 15257 G-A D-N MT-CYB Normal Arabs
20040210020 15265 C-T syn MT-CYB NAION Arabs
20050813024 15267 C-A T-N MT-CYB Normal Arabs
20050813025 15617 G-A V-I MT-CYB Normal Arabs
20040210021 15679 A-G syn MT-CYB NAION Arabs
20050919026 15904 C-T tRNA MT-TT Normal Arabs
20050813013 15928 G-A tRNA MT-TT Normal Arabs
20050809018 16069 C-T non-coding Control Region Normal Arabs
20050809019 16092 T-C non-coding Control Region Normal Arabs
20050809020 16093 T-C non-coding Control Region Normal Arabs
20050919027 16126 T-C non-coding Control Region Normal Arabs
20050919028 16304 T-C non-coding Control Region Normal Arabs
20050919029 16335 A-G non-coding Control Region Normal Arabs
20050919030 16355 C-T non-coding Control Region Normal Arabs
20050919031 16362 T-C non-coding Control Region Normal Arabs
20091229004 3846 C-T syn MT-ND1 Breast Cancer Amerindian
20091229016 5420 T-C syn MT-ND2 Breast Cancer Amerindian
20070709001 1027 A-G rRNA MT-RNR1 Control Altaian
20081202001 4395 A-G noncod MT-TQ cardiomyopathy Afrique
20001017010 10667 T-C syn MT-ND4L Lung Cancer African/American
20001017003 10688 G-A syn MT-ND4L Lung Cancer African/American
20001017002 10810 T-C syn MT-ND4 Lung Cancer African/American
20001017009 10816 A-G syn MT-ND4 Lung Cancer African/American
20001017006 11176 G-A syn MT-ND4 Lung Cancer African/American
20001017004 11302 C-T syn MT-ND4 Lung Cancer African/American
20001017007 11641 A-G syn MT-ND4 Lung Cancer African/American
20001017005 12020 C-T syn MT-ND4 Lung Cancer African/American
20091229006 4598 T-C syn MT-ND2 Breast Cancer African, Amerindian
20140721003 780 G-A rRNA MT-RNR1 Normal African
20100930001 6221 T-A syn MT-CO1 infertility African
20130303001 7762 G-A syn MT-CO2 Normal African
20140721001 7771 A-G syn MT-CO2 Normal African
20140721002 7775 A-G syn MT-CO2 Normal African
20140721006 7805 G-A V-I MT-CO2 Normal African
20140721004 7819 C-A syn MT-CO2 Normal African
20140721005 7837 T-C syn MT-CO2 Normal African
20140721007 7853 G-A V-I MT-CO2 Normal African
20140721008 7861 T-C syn MT-CO2 Normal African
20140721009 7912 G-A syn MT-CO2 Normal African
20140721010 7972 A-G syn MT-CO2 Normal African
20140721011 7984 G-A syn MT-CO2 Normal African
20140721012 8007 G-A A-G MT-CO2 Normal African
20140721013 8014 A-G syn MT-CO2 Normal African
20140721014 8017 C-A syn MT-CO2 Normal African
20140721015 8020 G-A syn MT-CO2 Normal African
20140721016 8027 G-A A-T MT-CO2 Normal African
20140721017 8047 T-C syn MT-CO2 Normal African
20140721018 8104 T-C syn MT-CO2 Normal African
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
20090604001 581 A-C noncod MT-TF DIABETES Africain/caucasian
20090529003 6146 A-G syn MT-CO1 Infertility Africain/caucasian
20090529002 6216 T-C L1-L2 MT-CO1 Infertility Africain/caucasian
20090604002 6527 A-T M-I MT-CO1 DIABETES Africain/caucasian
20090529005 9007 A-T T-S MT-ATP6 Infertility Africain/caucasian
20090529001 15220 A-T no MT-CYB Infertility Africain/caucasian
20090529004 15283 T-C syn MT-CYB Infertility Africain/caucasian
20050308004 735 A-G rRNA MT-RNR1 Deafness Africain
20050308003 742 T-C rRNA MT-RNR1 Normal Africain
20050308005 794 T-A rRNA MT-RNR1 Deafness Africain
20050313001 813 A-G rRNA MT-RNR1 Deafness Africain
20050308002 868 C-T rRNA MT-RNR1 Normal Africain
20050308001 954 C-T rRNA MT-RNR1 Normal Africain
20101005001 1640 A-G tRNA MT-TV MELAS , mitochondrial diabetes, bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, Africain
20111212002 3298 C-G tRNA MT-TL1 normal Africain
20091229002 3756 A-G syn MT-ND1 Breast Cancer Africain
20091229007 4755 T-C syn MT-ND2 Breast Cancer Africain
20091229008 5069 A-T M-I MT-ND2 Breast Cancer Africain
20091229009 5087 T-C syn MT-ND2 Breast Cancer Africain
20091229010 5096 T-C syn MT-ND2 Breast Cancer Africain
20091229012 5141 C-T syn MT-ND2 Breast Cancer Africain
20091229013 5144 C-T syn MT-ND2 Breast Cancer Africain
20091229014 5300 C-T syn MT-ND2 Breast Cancer Africain
20091229015 5372 A-G syn MT-ND2 Breast Cancer Africain
20101004002 6164 C-T syn MT-CO1 INFERTILE Africain
20110504004 6188 C-A syn MT-CO1 INFERTILITY Africain
20101004003 6614 T-C syn MT-CO1 INFERTILITY Africain
20101004004 6806 A-G syn MT-CO1 INFERTILITY Africain
20110504001 7572 T-C tRNA MT-TD INFERTILITY Africain
20110504002 8312 A-G tRNA MT-TK INFERTILITY Africain
20110504003 8413 A-G syn MT-ATP8 INFERTILITY Africain
20091229017 10816 A-G syn MT-ND4 Breast Cancer Africain
20091229018 10837 C-T syn MT-ND4 Breast Cancer Africain
20091229019 11287 T-C syn MT-ND4 Breast Cancer Africain
20091229020 11329 A-G syn MT-ND4 Breast Cancer Africain
20091229021 12400 A-G T-A MT-ND5 Breast Cancer Africain
20091229022 12542 C-T A-V MT-ND5 Breast Cancer Africain
20111213002 14788 T-G I-M MT-CYB normal Africain
20111213005 14828 T-G S-A MT-CYB normal Africain
20111214001 14835 G-C W-S MT-CYB Diabetes, Myopathy, hearing impairment Africain
20111213001 14836 A-G syn MT-CYB Diabetes, Myopathy, hearing impairment Africain
20111213004 14880 T-G I-S MT-CYB normal Africain
20111213003 14886 C-G T-Ter MT-CYB normal Africain
20120125001 14935 no AA change     diabetes myopathy and hearing impairement africain
20120125002 14936   S-A   diabetes myopathy and hearing impairement africain
20111213006 14949 A-C H-P MT-CYB normal Africain
20111213007 14954 A-G T-A MT-CYB normal Africain
20070609001 16041 A-G non-coding Control Region Leucodystrophy Africain
20070609002 16287 C-A non-coding Control Region Leigh Syndrome Africain
20070609003 16293 A-T non-coding Control Region Leigh Syndrome Africain
20071014001 8529 G-A W-Ter MT-ATP8 Apical HCM .
20071014002 8529 G-A syn MT-ATP6 . .
20010424001 253 C-A noncod D-Loop Sporadic Parathyroid Adenoma -
20010828002 285 C-T noncod D-Loop Sporadic Parathyroid Adenoma -
20000914001 463 C-T noncod D-Loop - -
19990316006 711 T-C noncod MT-RNR1 - -
20010828003 1007 G-A noncod MT-RNR1 Sporadic Parathyroid Adenoma -
19990308002 1462 G-A noncod MT-RNR1 Diabetes/Deafness -
20010828004 1700 T-C noncod MT-RNR2 Sporadic Parathyroid Adenoma -
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 - -
20010828007 3397 A-G M-V MT-ND1 Sporadic Parathyroid Adenoma -
20010828008 3591 G-A P-L MT-ND1 Sporadic Parathyroid Adenoma -
19990316009 3594 C-T syn MT-ND1 - -
19990316010 3666 G-A syn MT-ND1 - -
19990316011 3693 G-A syn MT-ND1 - -
19990316012 4104 A-G syn MT-ND1 - -
20010424002 4172 T-C L-P MT-ND1 Sporadic Parathyroid Adenoma -
20010828009 4188 A-G syn MT-ND1 Sporadic Parathyroid Adenoma -
20010828010 4216 T-C Y-H MT-ND1 Sporadic Parathyroid Adenoma -
20010828011 4418 T-C noncod MT-TM Sporadic Parathyroid Adenoma -
20010828012 4640 C-A I-M MT-ND2 Sporadic Parathyroid Adenoma -
20010424003 5026 A-G H-R MT-ND2 Sporadic Parathyroid Adenoma -
19990316013 5036 A-G syn MT-ND2 - -
19990316014 5046 G-A V-I MT-ND2 - -
19990316015 5054 G-A syn MT-ND2 - -
19990316016 5390 A-G syn MT-ND2 - -
19990316017 5393 T-C syn MT-ND2 - -
19990316018 5485 T-C I-T MT-ND2 - -
19990316019 5655 T-C noncod MT-TA - -
20010828013 6026 G-A syn MT-CO1 Sporadic Parathyroid Adenoma -
19990316020 6152 T-C syn MT-CO1 - -
19990316021 6548 C-T syn MT-CO1 - -
20010828014 6570 G-T A-S MT-CO1 Sporadic Parathyroid Adenoma -
20010828015 6656 C-T syn MT-CO1 Sporadic Parathyroid Adenoma -
19990316022 6663 A-G I-V MT-CO1 - -
19990316023 6827 T-C syn MT-CO1 - -
19990316024 6989 A-G syn MT-CO1 - -
19990316025 7146 A-G T-A MT-CO1 - -
19990316026 7158 A-G I-V MT-CO1 - -
19990316027 7175 T-C syn MT-CO1 - -
20010828016 7220 T-C syn MT-CO1 Sporadic Parathyroid Adenoma -
19990316028 7256 C-T syn MT-CO1 - -
19990316029 7274 C-T syn MT-CO1 - -
19990316030 7389 T-C Y-H MT-CO1 - -
19990316031 7819 C-A syn MT-CO2 - -
20060518007 7864 C-T syn MT-CO2 Epilepsy -
20010828017 7963 A-G syn MT-CO2 Sporadic Parathyroid Adenoma -
19990316032 8205 T-A M-K MT-CO2 - -
20040607001 8271 A-G non-coding MT-NC7 Subfertile -
19990308001 8519 G-A E-K MT-ATP8 MELAS plus other symptoms -
20010828018 8602 T-C F-L MT-ATP6 Sporadic Parathyroid Adenoma -
20010828019 8812 A-G T-A MT-ATP6 Sporadic Parathyroid Adenoma -
19990316033 8857 G-T G-C MT-ATP6 - -
19990316034 8932 C-T P-S MT-ATP6 - -
20010828020 8953 A-G I-V MT-ATP6 Sporadic Parathyroid Adenoma -
20010828021 8987 A-G M-V MT-ATP6 Sporadic Parathyroid Adenoma -
20040811001 9152 T-C I-T MT-ATP6 - -
20040811002 9163 G-A V-I MT-ATP6 - -
20010828022 9426 C-T P-S MT-CO3 Sporadic Parathyroid Adenoma -
20010828024 9426 C-T P-S MT-CO3 Sporadic Parathyroid Adenoma -
20010828025 9656 T-C syn MT-CO3 Sporadic Parathyroid Adenoma -
20010828026 10325 G-A syn MT-ND3 Sporadic Parathyroid Adenoma -
20010424004 10522 G-A G-E MT-ND4L Sporadic Parathyroid Adenoma -
20010828027 10754 A-C syn MT-ND4L Sporadic Parathyroid Adenoma -
20010828028 10775 A-G V-I MT-ND4 Sporadic Parathyroid Adenoma -
19990316035 10873 T-C syn MT-ND4 - -
19990316036 10876 A-G syn MT-ND4 - -
19990316037 10978 A-G syn MT-ND4 - -
19990316038 11016 G-A S-N MT-ND4 - -
19990316039 11167 A-G syn MT-ND4 - -
19990316040 11470 A-G syn MT-ND4 - -
20010828029 11617 T-C syn MT-ND4 Sporadic Parathyroid Adenoma -
19990316041 11732 T-C syn MT-ND4 - -
20010424005 12372 G-A syn MT-ND5 Sporadic Parathyroid Adenoma -
19990906001 12573 C-T syn MT-ND5 - -
20010828030 12879 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20010828031 12954 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20010828032 13392 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20010828033 13392 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20010828034 13422 A-G syn MT-ND5 Sporadic Parathyroid Adenoma -
20010424007 13577 T-C I-T MT-ND5 Sporadic Parathyroid Adenoma -
20010828035 13708 G-A A-T MT-ND5 Sporadic Parathyroid Adenoma -
20010828036 13743 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
19990316043 13789 T-C T-H MT-ND5 - -
19990316044 13880 C-A S-Y MT-ND5 - -
19990316045 14007 A-G syn MT-ND5 - -
19990316046 14037 A-G syn MT-ND5 - -
20010828037 14070 A-G syn MT-ND5 Sporadic Parathyroid Adenoma -
19990316047 14142 C-T syn MT-ND5 - -
19990316048 14169 C-T E-N MT-ND6 - -
19990316049 14178 T-C I-V MT-ND6 - -
19990316050 14203 A-G syn MT-ND6 - -
20040803003 14249 G-A A-V MT-ND6 LHON -
20040803002 14284 C-T syn MT-ND6 LHON -
20010828038 14364 G-A syn MT-ND6 Sporadic Parathyroid Adenoma -
20010424008 14386 T-C syn MT-ND6 Sporadic Parathyroid Adenoma -
20040803001 14634 T-C M-V MT-ND6 LHON -
19990316051 14757 T-C M-T MT-CYB - -
19990316052 14768 A-G N-D MT-CYB - -
19990316053 14793 A-G H-R MT-CYB - -
20010828039 15148 G-A syn MT-CYB Sporadic Parathyroid Adenoma -
20020529001 15487 A-T syn MT-CYB Exercise Intolerance -
19990316055 16051 A-G noncod D-Loop - -
20020507001 16147 C-A noncod D-Loop Breast Tumor -
20041130001 16176 C- A non-coding Control Region Friedreich's Ataxia -
20140630016 72 T-A non-coding Control Region Glioma  
20140214019 183 A-G non-coding Control Region    
20100905001 366 G-A non-coding Control Region Oral squamous cell carcinoma  
20130520003 526 G-A non-coding Control Region    
20110302001 571 C-A non-coding Control Region complex I deficiency  
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  
20100804003 648 A-G tRNA MT-TF    
20100804004 669 T-C tRNA MT-TF    
20100804005 709 G-A rRNA MT-RNR1    
20110302003 719 G-A rRNA MT-RNR1 combined complex I + IV deficiency  
20110503001 720 T-C rRNA MT-RNR1 Congenital Non-syndromic Deafness  
20110302004 739 C-T rRNA MT-RNR1 combined complex I+IV defiency  
20100804006 745 A-G rRNA MT-RNR1    
20100804007 747 A-G rRNA MT-RNR1    
20100804008 750 A-G rRNA MT-RNR1    
20100804009 751 A-C rRNA MT-RNR1    
20100804010 751 A-G rRNA MT-RNR1    
20100804011 769 G-A rRNA MT-RNR1    
20100804012 813 A-G rRNA MT-RNR1    
20100804013 825 T-A rRNA MT-RNR1    
20100804014 827 A-G rRNA MT-RNR1    
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    
20100804019 957 C-G rRNA MT-RNR1    
20110503002 960 C-A rRNA MT-RNR1 Congenital Non-syndromic Deafness  
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  
20100804026 1018 G-A rRNA MT-RNR1    
20100804027 1053 A-G rRNA MT-RNR1    
20100804028 1119 T-C rRNA MT-RNR1    
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    
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    
20100804041 1598 G-A rRNA MT-RNR1    
20110302021 1607 T-C tRNA MT-TV complex I deficiency  
20100804042 1664 G-A tRNA MT-TV    
20100804043 1676 A-G rRNA MT-RNR2    
20110302006 1692 A-T rRNA MT-RNR2 combined complex I + IV deficiency  
20100804044 1700 T-C rRNA MT-RNR2    
20100804045 1709 G-A rRNA MT-RNR2    
20100804046 1711 C-T rRNA MT-RNR2    
20100804047 1719 G-A rRNA MT-RNR2    
20100804048 1720 C-T rRNA MT-RNR2    
20100804049 1721 C-T rRNA MT-RNR2    
20100804050 1738 T-C rRNA MT-RNR2    
20110302022 1767 G-A rRNA MT-RNR2 complex I deficiency  
20100804051 1806 T-C rRNA MT-RNR2    
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    
20100804057 1842 A-G rRNA MT-RNR2    
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    
20110302007 1943 A-G rRNA MT-RNR2 complex I deficiency