MITOMAP: Unpublished mtDNA Variants {ARCHIVED, no longer updated}

To submit unpublished mtDNA variant data to an online database, please contact lishen@chla.usc.edu at MSeqDR.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 PositionSorted descending Nucleotide Change Amino Acid Change Locus / Gene Patient Group / Phenotype Ethnographic Info
20030528020 16569 G-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528019 16568 T-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528018 16567 A-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20110503032 16565 C-T non-coding Control Region Congenital Non-syndromic Deafness  
20070527007 16527 C-T non-coding Control Region Breast Cancer Caucasian
20080810001 16525 A-G noncod D-Loop FAP Chinese
20030527019 16524 A-C non-coding Control Region Oral Cancer Asian Indian
20030527018 16519 T-C non-coding Control Region Oral Cancer Asian Indian
20030529026 16518 G-T non-coding Control Region Oral Cancer Asian Indian
20070527002 16504 G-A non-coding Control Region Breast Cancer Caucasian
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
20030528121 16438 G-A non-coding Control Region Oral Cancer Asian Indian- Gujarati
20140214006 16428 G-A non-coding Control Region isolated complex IV deficiency Caucasian
20140630015 16422 T-C non-coding Control Region Temporal lobe epilepsy with hippocampal sclerosis  
20030528092 16418 T-C non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030528091 16417 A-T non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030528139 16399 A-G 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
20030528150 16390 G-A non-coding Control Region Oral Cancer Asian Indian
20030528064 16363 C-G non-coding Control Region Oral Cancer Asian Indian- Muslim
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
20030529042 16359 T-G non-coding Control Region Oral Cancer Asian Indian
20030528157 16356 T-C non-coding Control Region Oral Cancer Asian Indian
20030528149 16355 C-T non-coding Control Region Oral Cancer Asian Indian
20050919030 16355 C-T non-coding Control Region Normal Arabs
20030527017 16352 T-C non-coding Control Region Oral Cancer Asian Indian
20000915001 16337 C-T noncod D-Loop - Murut
20050919029 16335 A-G non-coding Control Region Normal Arabs
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
20030528110 16327 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20060605004 16327 C-A non-coding Control Region Normal Indigenous group-Bidayuh
20100908001 16325 T-C non-coding Control Region Oral cancer Indian-Bengali
20030528148 16324 T-C non-coding Control Region Oral Cancer Asian Indian
20030528048 16320 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030527016 16319 G-A non-coding Control Region Oral Cancer Asian Indian
20000914006 16318 A-C noncod D-Loop - Punjabi
20030428003 16318 A-C non-coding Control Region Normal Kazhakh
20030528047 16318 A-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528062 16318 A-T non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528117 16318 A-C non-coding Control Region Oral Cancer Asian Indian- Malayali
20000211008 16317 A-C noncod D-Loop - Malay
20091005003 16312 A-G noncod D-Loop Normal Kedah Malays
20030215003 16311 T-C non-coding Control Region Oral Cancer Asian Indian
20100908003 16311 T-C non-coding Control Region Oral cancer Asian-Bengali
20000914005 16309 A-C noncod D-Loop - Punjabi
20030528061 16309 A-G non-coding Control Region Oral Cancer Asian Indian- Muslim
20030215002 16304 T-C non-coding Control Region Oral Cancer Asian Indian
20050919028 16304 T-C non-coding Control Region Normal Arabs
20091005005 16301 C-T noncod D-Loop Normal Banjar Malays
20030528109 16298 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528107 16294 C-T non-coding Control Region Oral Cancer Asian Indian
20070609003 16293 A-T non-coding Control Region Leigh Syndrome Africain
20030528015 16292 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20081212001 16292 C-T noncod D-Loop normal Veddah
20030527033 16289 A-G non-coding Control Region Oral Cancer Asian Indian- Bengali
20070609002 16287 C-A non-coding Control Region Leigh Syndrome Africain
20040327003 16279 C-T non-coding Control Region Pancreatic Ductal Adenocarcinoma Caucasian
20030528077 16278 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528120 16275 A-G non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030527015 16274 G-A non-coding Control Region Oral Cancer Asian Indian
20030528076 16274 G-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030527014 16270 C-T non-coding Control Region Oral Cancer Asian Indian
20030528046 16266 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528106 16261 C-T non-coding Control Region Oral Cancer Asian Indian
20100908005 16261 C-T non-coding Control Region Oral cancer Indian- Bengali
20000914004 16259 C-A noncod D-Loop - Murut
20030528138 16256 C-T non-coding Control Region Oral Cancer Asian Indian
20091005002 16246 A-T noncod D-Loop Normal Banjar Malays
20030528014 16242 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20050419005 16242 C-A non-coding Control Region LHON Caucasian
20030527032 16239 C-T non-coding Control Region Oral Cancer Asian Indian- Bengali
20050309001 16239 C-A non-coding Control Region Myopathy, tremor Caucasian
20030528105 16235 A-G non-coding Control Region Oral Cancer Asian Indian
20030528090 16234 C-T non-coding Control Region Oral Cancer Asian Indian- Gujarati
20140630013 16234 C-T non-coding Control Region Glioma  
20030529015 16231 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
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
20030528045 16224 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030527013 16223 C-T non-coding Control Region Oral Cancer Asian Indian
20100908006 16223 C-T non-coding Control Region Oral cancer Asian-Bengali
20030528104 16222 C-T non-coding Control Region Oral Cancer Asian Indian
20050419004 16219 A-T non-coding Control Region LHON Caucasian
20030529014 16213 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528083 16209 T-C non-coding Control Region Oral Cancer Asian Indian- Muslim
20091006001 16207 A-G noncod D-Loop Normal Malay
20110503031 16206 A-G non-coding Control Region Congenital Non-syndromic Deafness  
20030529009 16201 C-T non-coding Control Region Oral Cancer Asian Indian
20091005004 16194 A-C noncod D-Loop Normal Minangkabau and Banjar Malays
20000211007 16192 C-A noncod D-Loop - Murut
20030528075 16192 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20050106001 16190 C-A non-coding Control Region Normal Caucasian
20040701010 16189 T-A non-coding Control Region Normal Mestizo
20080730003 16189 T-A noncod D-Loop - Chinese Han ethnic group
20100908008 16189 T-C non-coding Control Region Oral cancer Asian-Bengali
20000224001 16187 C-G noncod D-Loop - Bisaya
20030529025 16187 C-T non-coding Control Region Oral Cancer Asian Indian
20080730002 16184 C-G noncod D-Loop - Chinese Tu ethnic group
20080730001 16183 A-G noncod D-Loop - Chinese Tu ethnic group
20030528082 16181 A-G non-coding Control Region Oral Cancer Asian Indian- Muslim
20041130001 16176 C- A non-coding Control Region Friedreich's Ataxia -
20050419003 16176 C-A non-coding Control Region LHON Caucasian
20091005006 16176 C-G noncod D-Loop Normal Riau Malays
20040701011 16175 A-G non-coding Control Region Normal Mestizo
20050419002 16174 C-A non-coding Control Region LHON Caucasian
20030527012 16172 T-C non-coding Control Region Oral Cancer Asian Indian
20001017001 16170 A-G noncod D-Loop Lung Cancer Caucasian
20000211006 16157 T-C noncod D-Loop - Rungus
20000915003 16157 T-A noncod D-Loop - Murut
20140630017 16148 C-T non-coding Control Region Glioma  
20020507001 16147 C-A noncod D-Loop Breast Tumor -
20030529008 16147 C-T non-coding Control Region Oral Cancer Asian Indian
20030528103 16145 G-A non-coding Control Region Oral Cancer Asian Indian
20101227005 16145 G-A non-coding Control Region Oral cancer Asian-Bengali
20030529041 16138 A-G non-coding Control Region Oral Cancer Asian Indian
20030528156 16134 C-T non-coding Control Region Oral Cancer Asian Indian
20030528044 16129 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528081 16126 T-C non-coding Control Region Oral Cancer Asian Indian- Muslim
20050919027 16126 T-C non-coding Control Region Normal Arabs
20030528060 16113 A-C non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528043 16111 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20091005001 16111 C-G noncod D-Loop Normal Bugis Malays
20091005007 16111 C-A noncod D-Loop Normal Kelantan Malays
20030527011 16110 G-T non-coding Control Region Oral Cancer Asian Indian
20030529034 16103 A-T non-coding Control Region Oral Cancer Asian Indian
20030529033 16102 T-A non-coding Control Region Oral Cancer Asian Indian
20030529007 16100 A-G non-coding Control Region Oral Cancer Asian Indian
20030529024 16099 G-T non-coding Control Region Oral Cancer Asian Indian
20030528126 16098 A-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20040701009 16098 A-G non-coding Control Region Normal Mestizo
20030528108 16093 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20050809020 16093 T-C non-coding Control Region Normal Arabs
20140630008 16093 T-C non-coding Control Region Temporal lobe epilepsy with hippocampal sclerosis  
20030529016 16092 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20050809019 16092 T-C non-coding Control Region Normal Arabs
20140630007 16092 T-C non-coding Control Region Temporal lobe epilepsy with hippocampal sclerosis  
20030528013 16086 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20100212002 16079 C-T non-coding Control Region Non-syndromic hearing loss Caucasian
20030528102 16069 C-T non-coding Control Region Oral Cancer Asian Indian
20050809018 16069 C-T non-coding Control Region Normal Arabs
20030528041 16067 C-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528074 16061 T-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528073 16057 C-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030215001 16054 A-C non-coding Control Region Oral Cancer Asian Indian
20030527002 16052 C-T non-coding Control Region Oral Cancer Asian Indian- Gujarati
19990316055 16051 A-G noncod D-Loop - -
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
20160806007 16046 T-G   CR:HVS1/HV1   Iranian
20070609001 16041 A-G non-coding Control Region Leucodystrophy Africain
20030528137 16040 C-G non-coding Control Region Oral Cancer Asian Indian
20030528039 16035 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030527030 16034 G-A non-coding Control Region Oral Cancer Asian Indian- Bengali
20030527029 16033 G-A non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528038 16025 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030527028 16024 T-C non-coding Control Region Oral Cancer Asian Indian- Bengali
20060605001 16017 T-C tRNA MT-TP Normal Indigenous group-Temuan
20100805356 15954 A-C non-coding MT-NC10    
20100805355 15948 A-G tRNA MT-TT    
20100805354 15946 C-T tRNA MT-TT    
20100805353 15938 C-T tRNA MT-TT    
20100805352 15935 A-G tRNA MT-TT    
20100805351 15930 G-A tRNA MT-TT    
20050813013 15928 G-A tRNA MT-TT Normal Arabs
20100805350 15928 G-A tRNA MT-TT    
20100805349 15927 G-A tRNA MT-TT    
20100805348 15924 A-G tRNA MT-TT    
20100805347 15908 T-C tRNA MT-TT    
20100805346 15907 A-G tRNA MT-TT    
20160806006 15906 A-T   tRNA.T   Iranian
20100805345 15905 T-C tRNA MT-TT    
20050919026 15904 C-T tRNA MT-TT Normal Arabs
20100805344 15904 C-T tRNA MT-TT    
20100805343 15900 T-C tRNA MT-TT    
20100805342 15894 G-A tRNA MT-TT    
20100805341 15892 T-C tRNA MT-TT    
20100805340 15891 C-T tRNA MT-TT    
20100805338 15884 G-A A-T MT-CYB    
20100805339 15884 G-C A-P MT-CYB    
20140731015 15869 A-T K-Term MT-CYB CAD+T2DM Asian Indian
20160806005 15864 A-G E-G CYB   Iranian
20030918009 15859 A-G syn MT-CYB Liver Cancer Asian
20100805337 15859 A-G syn MT-CYB    
20100805336 15833 C-T syn MT-CYB    
20120907017 15823         European
20100805335 15817 A-G syn MT-CYB    
20100805334 15812 G-A V-M MT-CYB    
20100805333 15803 G-A V-M MT-CYB    
20080406008 15799 A-G syn MT-CYB Cardiomyopathy Tunisian
20100805332 15796 T-C syn MT-CYB    
20140423011 15792 T-C I-T MT-CYB Breast cancer Senegalese
20100805331 15790 C-T syn MT-CYB    
20140423010 15787 T-G F-L MT-CYB Breast cancer Senegalese
20140731013 15785 T-A F-I MT-CYB CAD+T2DM Asian Indian
20100805330 15784 T-C syn MT-CYB    
20100805329 15781 C-T syn MT-CYB    
20100805328 15775 A-G syn MT-CYB    
20100805327 15773 G-A V-M MT-CYB    
19990721003 15772 A-G syn MT-CYB Myopathy Caucasian
20140423009 15767 C-A Q-K MT-CYB Breast cancer Senegalese
20100805326 15766 A-G syn MT-CYB    
20140217017 15765 G-A G-E MT-CYB sCJD Han Chinese
20040217003 15763 A-G syn MT-CYB Encephalomyopathy Caucasian
20000825021 15758 A-G I-V MT-CYB Pancreatic Cancer Caucasian
20100805325 15758 A-G I-V MT-CYB    
20140423008 15754 C-A Syn MT-CYB Breast cancer Senegalese
20140423007 15749 C-T Syn MT-CYB Breast cancer Senegalese
20100805324 15748 T-C syn MT-CYB    
20100805323 15737 G-A D-N MT-CYB    
20000825008 15734 G-A A-T MT-CYB Pancreatic Cancer Caucasian
20100805322 15734 G-A A-T MT-CYB    
20140423006 15732 C-T A-V MT-CYB Breast cancer Senegalese
20100805321 15731 G-A A-T MT-CYB    
20100805320 15725 C-T L-F MT-CYB    
19990324001 15721 T-C syn MT-CYB LHON Caucasian
20100805319 15721 T-C syn MT-CYB    
20060125001 15713 T-G S-A MT-CYB Epilepsy Russian
20100805318 15708 G-C S-T MT-CYB    
20140423004 15704 C-A L-M MT-CYB Breast cancer Senegalese
20140423005 15704 C-T Syn MT-CYB Breast cancer Senegalese
20140423003 15700 C-T Syn MT-CYB Breast cancer Senegalese
20100805317 15693 T-C M-T MT-CYB    
20140423002 15689 A-T M-L MT-CYB Breast cancer Senegalese
20100805316 15682 A-G syn MT-CYB    
20040210021 15679 A-G syn MT-CYB NAION Arabs
20080406007 15679 A-G syn MT-CYB Cardiomyopathy Tunisian
20100805315 15670 T-C syn MT-CYB    
20140423001 15667 C-T Syn MT-CYB Breast cancer Senegalese
20140422028 15664 C-A I-M MT-CYB Breast cancer Senegalese
20100805314 15658 C-T syn MT-CYB    
20140422027 15655 A-C M-I MT-CYB Breast cancer Senegalese
20140422026 15654 T-C M-T MT-CYB Breast cancer Senegalese
20140422025 15653 A-G M-V MT-CYB Breast cancer Senegalese
20100805313 15652 A-G syn MT-CYB    
20140422024 15646 C-T Syn MT-CYB Breast cancer Senegalese
20140422023 15643 C-T Syn MT-CYB Breast cancer Senegalese
20140422022 15641 C-T L-F MT-CYB Breast cancer Senegalese
20140422021 15640 C-T 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
20100805312 15634 A-G syn MT-CYB    
20080406006 15632 C-T syn MT-CYB Cardiomyopathy Tunisian
20140422018 15631 A-G Syn MT-CYB Breast cancer Senegalese
20140422017 15629 T-C Syn MT-CYB Breast cancer Senegalese
20140422016 15628 A-C Syn MT-CYB Breast cancer Senegalese
20140422015 15622 T-G Syn MT-CYB Breast cancer Senegalese
20140422014 15619 G-A Syn MT-CYB Breast cancer Senegalese
20050813025 15617 G-A V-I MT-CYB Normal Arabs
20100805311 15617 G-A V-I MT-CYB    
20100805310 15616 C-T syn MT-CYB    
20140422013 15614 G-A G-S MT-CYB Breast cancer Senegalese
20100805309 15613 A-G syn MT-CYB    
20140731012 15609 T-G L-R MT-CYB CAD+T2DM Asian Indian
20100805308 15607 A-G syn MT-CYB    
20140422011 15596 G-A V-I MT-CYB Breast cancer Senegalese
20140422010 15595 C-T Syn MT-CYB Breast cancer Senegalese
20140422008 15590 C-A R-TERM MT-CYB Breast cancer Senegalese
20140731011 15585 T-G I-S MT-CYB CAD+T2DM Asian Indian
20140422005 15581 A-G T-A MT-CYB Breast cancer Senegalese
20140422004 15580 C-T Syn MT-CYB Breast cancer Senegalese
20100805307 15565 T-C syn MT-CYB    
20140422002 15556 C-G Syn MT-CYB Breast cancer Senegalese
20110503030 15542 C-T P-S MT-CYB Congenital Non-syndromic Deafness  
20100805306 15529 C-T syn MT-CYB    
20040217004 15519 T-C L-P MT-CYB Infarct Cerebri Multiplex, more Caucasian
20100805305 15519 T-C L-P MT-CYB    
20100805304 15514 T-C syn MT-CYB    
20100805303 15511 T-C syn MT-CYB    
20100805302 15499 C-T syn MT-CYB    
20100805301 15493 C-T syn MT-CYB    
20020529001 15487 A-T syn MT-CYB Exercise Intolerance -
20040713007 15481 C-T syn MT-CYB Oral Cancer Asian
20140731010 15480 T-G F-C MT-CYB CAD+T2DM Asian Indian
20100805300 15479 T-C F-L MT-CYB    
20100805299 15471 T-C L-S MT-CYB    
20100805298 15466 G-A syn MT-CYB    
20100805297 15465 T-C M-T MT-CYB    
20100805296 15454 T-C syn MT-CYB    
20140127002 15453 T-C L-P MT-CYB isolated complex III deficiency Causacian
20100805295 15452 C-A L-I MT-CYB    
20100805294 15451 C-G F-L MT-CYB    
20080406003 15434 C-A L-I MT-CYB Cardiomyopathy Tunisian
20100805293 15430 C-T syn MT-CYB    
20100805292 15424 C-T syn MT-CYB    
20100805291 15409 C-T syn MT-CYB    
20140630006 15404 T-C F-L MT-CYB Temporal lobe epilepsy with hippocampal sclerosis  
20100805290 15397 A-G syn MT-CYB    
20100805289 15394 T-C syn MT-CYB    
20100805288 15381 C-T T-I MT-CYB    
20100805287 15355 G-A syn MT-CYB    
20100805286 15346 G-A syn MT-CYB    
20080406005 15344 T-C syn MT-CYB Cardiomyopathy Tunisian
20100805285 15340 A-G syn MT-CYB    
20100805284 15326 A-G T-A MT-CYB    
20100805283 15325 A-C syn MT-CYB    
20030918008 15323 G-A A-T MT-CYB Liver Cancer Asian
20100805282 15314 G-A A-T MT-CYB    
20100805281 15313 T-C syn MT-CYB    
20020410003 15310 T-C syn MT-CYB Myopathy (unknown), Bilateral Ptosis Caucasian
20100805280 15310 T-C syn MT-CYB    
20100805279 15301 G-A syn MT-CYB    
20100805278 15299 T-C syn MT-CYB    
20100805277 15289 T-C syn MT-CYB    
20090529004 15283 T-C syn MT-CYB Infertility Africain/caucasian
20050813024 15267 C-A T-N MT-CYB Normal Arabs
20040210020 15265 C-T syn MT-CYB NAION Arabs
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    
20121022002 15246       control/normal/healthy Caucasian/Middle European
19990507001 15244 A-G syn MT-CYB Ocular Myopathy Caucasian
20100805275 15244 A-G syn MT-CYB    
20040317016 15235 A-G syn MT-CYB Normal Saudi Arab
20100805274 15232 A-G syn MT-CYB    
20100805273 15221 G-A D-N MT-CYB    
20080406004 15220 A-G syn MT-CYB Cardiomyopathy Tunisian
20090529001 15220 A-T no MT-CYB Infertility Africain/caucasian
20100805272 15219 C-T T-M MT-CYB    
20050813012 15218 A-G T-A MT-CYB Normal Arabs
20100805271 15218 A-G T-A MT-CYB    
20100805270 15217 G-A syn MT-CYB    
20120124009 15211 C-T syn MT-CYB Normal Indonesian
20140214004 15204 T-C I-T (Ile153Thr) MT-CYB Patient  
20100805269 15175 C-T syn MT-CYB    
20100805268 15172 G-A syn MT-CYB    
20010828039 15148 G-A syn MT-CYB Sporadic Parathyroid Adenoma -
20100805267 15148 G-A syn MT-CYB    
20100805266 15139 T-C syn MT-CYB    
20100805265 15122 A-G T-A MT-CYB    
20140630005 15118 A-G syn MT-CYB Temporal lobe epilepsy with hippocampal sclerosis  
19990324003 15115 T-C syn MT-CYB Ocular Myopathy Caucasian
20100805264 15115 T-C syn MT-CYB    
20100805263 15110 G-A A-T MT-CYB    
19990323004 15088 C-T syn MT-CYB Myopathy Caucasian
20110704005 15077 G-A E-K MT-CYB non-syndromic deafness  
20100805262 15071 T-C Y-H MT-CYB    
20100805261 15067 T-C syn MT-CYB    
20080414001 15064 A-G syn MT-CYB Cardiomyopathy Caucasian
20100805260 15061 A-G syn MT-CYB    
20140731009 15054 A-G Y-C MT-CYB CAD+T2DM Asian Indian
20100805259 15052 A-G syn MT-CYB    
20000825016 15045 G-A R-Q MT-CYB Pancreatic Cancer Caucasian
20100805258 15043 G-A syn MT-CYB    
20020410002 15034 A-G syn MT-CYB Myopathy (unknown), Bilateral Ptosis Caucasian
20100805257 15034 A-G syn MT-CYB    
20100805256 15032 C-T syn MT-CYB    
20100805255 15028 C-A syn MT-CYB    
20100805254 15019 T-C syn MT-CYB    
20011206002 15016 C-T syn MT-CYB Myopathy (unknown) Caucasian
20100805253 15016 C-T syn MT-CYB    
20110421003 15002 G-A G-S MT-CYB   Hispanic Father, Caucasian Mother
20100805252 15001 T-C syn MT-CYB    
20140217016 14980 C-A I-M MT-CYB sCJD Han Chinese
20100805251 14970 A-T Y-F MT-CYB    
20100805250 14962 C-T syn MT-CYB    
20100805249 14956 T-C syn MT-CYB    
20111213007 14954 A-G T-A MT-CYB normal Africain
20111213006 14949 A-C H-P MT-CYB normal Africain
20120125002 14936   S-A   diabetes myopathy and hearing impairement africain
20080406001 14935 T-C syn MT-CYB Cardiomyopathy Tunisian
20120125001 14935 no AA change     diabetes myopathy and hearing impairement africain
20100805248 14927 A-G T-A MT-CYB    
20100805247 14926 A-G syn MT-CYB    
20100805246 14911 C-T syn MT-CYB    
20040210019 14905 G-A syn MT-CYB NAION Arabs
20100805245 14905 G-A syn MT-CYB    
20100805244 14902 C-T syn MT-CYB    
20100805243 14897 C-T syn MT-CYB    
20111213003 14886 C-G T-Ter MT-CYB normal Africain
20110421002 14884 C-T syn MT-CYB   Hispanic Father, Caucasian Mother
20111213004 14880 T-G I-S MT-CYB normal Africain
20001016001 14872 C-T syn MT-CYB Myopathy Caucasian
20100805242 14872 C-T syn MT-CYB    
20100805241 14869 G-A syn MT-CYB    
20100805240 14866 C-T syn MT-CYB    
20100805239 14861 G-A A-T MT-CYB    
20100805238 14858 G-A G-S MT-CYB    
20100805237 14857 T-C syn MT-CYB    
20021231012 14849 T-C S-P MT-CYB Septo-optic Dysplasia Caucasian
20100805236 14839 A-G syn MT-CYB    
20111213001 14836 A-G syn MT-CYB Diabetes, Myopathy, hearing impairment Africain
20111214001 14835 G-C W-S MT-CYB Diabetes, Myopathy, hearing impairment Africain
20050813022 14831 G-A A-T MT-CYB Normal Arabs
20111213005 14828 T-G S-A MT-CYB normal Africain
20110503029 14820 C-T S-F MT-CYB Congenital Non-syndromic Deafness  
20100805235 14811 C-T P-L MT-CYB    
20100805234 14798 T-C F-L MT-CYB    
19990316053 14793 A-G H-R MT-CYB - -
20100805233 14793 A-G H-R MT-CYB    
20100805232 14790 A-G N-S MT-CYB    
20111213002 14788 T-G I-M MT-CYB normal Africain
20010303005 14783 T-C L-I MT-CYB Breast Cancer Caucasian
20100805231 14783 T-C syn MT-CYB    
20100805230 14778 T-G M-Ter MT-CYB    
20100805229 14775 T-C L-P MT-CYB    
20100805228 14773 C-T syn MT-CYB    
20100805227 14772 C-T P-L MT-CYB    
20100805226 14770 C-T syn MT-CYB    
20100805224 14769 A-C N-T MT-CYB    
20100805225 14769 A-G N-S MT-CYB    
19990316052 14768 A-G N-D MT-CYB - -
20100805223 14766 C-T T-I MT-CYB    
19990316051 14757 T-C M-T MT-CYB - -
20080406002 14757 T-C M-T MT-CYB Cardiomyopathy Tunisian
20140217015 14753 C-T P-S MT-CYB sCJD Han Chinese
20110503028 14752 C-T syn MT-CYB Congenital Non-syndromic Deafness  
20100805222 14727 T-C tRNA MT-TE    
20140127001 14721 G-A tRNA MT-TE isolated complex IV deficiency Causacian
20100805221 14706 A-G tRNA MT-TE    
20111212001 14705 G-C tRNA MT-TE Diabetes, Myopathy,Hearing impairment  
20100805220 14693 A-G tRNA MT-TE    
20100805219 14687 A-G tRNA MT-TE    
20100805218 14683 A-G tRNA MT-TE    
20040210018 14662 A-G syn MT-ND6 NAION Arabs
20040803001 14634 T-C M-V MT-ND6 LHON -
20100805217 14632 C-T syn MT-ND6    
20100805216 14627 A-G F-S MT-ND6    
20100805215 14620 C-T syn MT-ND6    
20100805214 14605 A-T syn MT-ND6    
20100805213 14593 A-G syn MT-ND6    
20100805212 14587 A-G syn MT-ND6    
20000825013 14582 A-G V-A MT-ND6 Pancreatic Cancer Caucasian
20100805211 14582 A-G V-A MT-ND6    
20100805210 14577 T-C I-V MT-ND6    
20100805209 14574 C-T V-I MT-ND6    
20100805208 14569 G-A syn MT-ND6    
20100805207 14566 A-G syn MT-ND6    
20100805206 14560 G-A syn MT-ND6    
20060130001 14552 A-G V-A MT-ND6 Leucodystrophy Caucasian
20100805205 14530 T-C syn MT-ND6    
20100805204 14528 C-A G-V MT-ND6    
20100805203 14518 A-G syn MT-ND6    
20100805202 14515 T-C syn MT-ND6    
20100805201 14502 T-C I-V MT-ND6    
20100805200 14498 T-C Y-C MT-ND6    
20100805199 14497 A-G syn MT-ND6    
20100805198 14494 T-C syn MT-ND6    
20100805197 14484 T-C M-V MT-ND6    
19990324002 14470 T-C syn MT-ND6 MELAS(3243) Caucasian
20100805195 14470 T-C syn MT-ND6    
20100805196 14470 T-A syn MT-ND6    
20141101003 14458 C-G syn MT-ND6 Diabetes ,Myopathy  
20140217014 14457 T-C M-V MT-ND6 sCJD Han Chinese
20100805194 14431 T-C syn MT-ND6    
20100805192 14419 C-A syn MT-ND6    
20100805193 14419 C-T syn MT-ND6    
20100805191 14410 G-A syn MT-ND6    
20030918006 14388 A-G syn MT-ND6 Liver Cancer Asian
20100805190 14388 A-G syn MT-ND6    
20010424008 14386 T-C syn MT-ND6 Sporadic Parathyroid Adenoma -
20100805189 14386 T-C syn MT-ND6    
20100805188 14371 T-C syn MT-ND6    
20100805187 14370 A-G syn MT-ND6    
20100805186 14365 C-T syn MT-ND6    
20010828038 14364 G-A syn MT-ND6 Sporadic Parathyroid Adenoma -
20100805185 14364 G-A syn MT-ND6    
20100805184 14359 C-T syn MT-ND6    
20120618012 14353 T-C SYN MT-ND6 LHON Iranian
20100805183 14325 T-C N-D MT-ND6    
20100805182 14323 G-A syn MT-ND6    
20100805181 14305 G-A syn MT-ND6    
20100805180 14296 A-G syn MT-ND6    
20040803002 14284 C-T syn MT-ND6 LHON -
20050919025 14281 C-A syn MT-ND6 Normal Arabs
20100805179 14278 T-C syn MT-ND6    
20100805178 14275 C-T syn MT-ND6    
20100805177 14274 A-G syn MT-ND6    
20100805176 14272 C-T syn MT-ND6    
20100805175 14258 G-A P-L MT-ND6    
20110314002 14258 G-A P-L MT-ND6 LHON Caucasion
20040803003 14249 G-A A-V MT-ND6 LHON -
20100805174 14249 G-A A-V MT-ND6    
20100805173 14245 C-A syn MT-ND6    
20100805172 14233 A-G syn MT-ND6    
20100805171 14220 A-G syn MT-ND6    
20100805170 14215 T-C syn MT-ND6    
20100805169 14212 T-C syn MT-ND6    
20040720016 14207 G-A T-I MT-ND6 Breast Cancer Caucasian
20040726001 14207 G-A T-I MT-ND6 LHON Caucasian
20100805168 14207 G-A T-I MT-ND6    
19990316050 14203 A-G syn MT-ND6 - -
20100805167 14203 A-G syn MT-ND6    
20100805166 14199 T-C T-A MT-ND6    
20100805165 14182 T-C syn MT-ND6    
20100805164 14180 T-C Y-C MT-ND6    
20070327012 14179 A-G syn MT-ND6 Leigh Syndrome Arabs
20100805163 14179 A-G syn MT-ND6    
19990316049 14178 T-C I-V MT-ND6 - -
20100805162 14178 T-C I-V MT-ND6    
19990316048 14169 C-T E-N MT-ND6 - -
20100805161 14167 C-T syn MT-ND6    
20100805160 14148 A-G Ter-Ter MT-ND5    
19990316047 14142 C-T syn MT-ND5 - -
20100805159 14139 A-G syn MT-ND5    
20100805158 14137 C-T syn MT-ND5    
20100805157 14133 A-G syn MT-ND5    
20100805156 14125 C-T syn MT-ND5    
20100805155 14118 A-G syn MT-ND5    
20100805154 14110 T-C F-L MT-ND5    
20100805153 14106 T-C syn MT-ND5    
20100805152 14097 C-T syn MT-ND5    
20040210017 14094 T-C syn MT-ND5 NAION Arabs
20100805151 14079 A-G syn MT-ND5    
20100805150 14071 A-G T-A MT-ND5    
20010828037 14070 A-G syn MT-ND5 Sporadic Parathyroid Adenoma -
20100805149 14070 A-G syn MT-ND5    
20140217019 14067 C-T T-T MT-ND5 sCJD Han Chinese
20040317007 14058 C-T syn MT-ND5 Normal Saudi Arab
20100805148 14058 C-T syn MT-ND5    
20100805147 14055 C-T syn MT-ND5    
20100805146 14040 G-A syn MT-ND5    
19990316046 14037 A-G syn MT-ND5 - -
20100805145 14037 A-G syn MT-ND5    
20100805144 14020 T-C syn MT-ND5    
20120618010 14020 A-G SYN MT-ND5 LHON Iranian
20100805143 14016 G-A syn MT-ND5    
20100805142 14013 A-G syn MT-ND5    
19990316045 14007 A-G syn MT-ND5 - -
20100805141 14002 A-G T-A MT-ND5    
20100805140 14000 T-A L-Q MT-ND5    
20100805139 13980 G-A syn MT-ND5    
20100805138 13977 C-T syn MT-ND5    
20100805137 13973 A-T Q-L MT-ND5    
20100805136 13967 C-T T-M MT-ND5    
20100805135 13966 A-G T-A MT-ND5    
20100805134 13965 T-C syn MT-ND5    
20100805133 13954 C-T syn MT-ND5    
20100805132 13953 T-C syn MT-ND5    
20100805131 13948 C-T P-S MT-ND5    
20100805130 13947 C-T syn MT-ND5    
20000825001 13943 C-T M-V MT-ND5 Pancreatic Cancer Caucasian
20050809017 13934 C-T T-M MT-ND5 Normal Arabs
20100805129 13934 C-T T-M MT-ND5    
20120618009 13934 C-T T-I MT-ND5 LHON Iranian
20100805128 13933 A-G T-A MT-ND5    
20100805126 13928 G-A S-N MT-ND5    
20100805127 13928 G-C S-T MT-ND5    
20100805125 13911 A-G syn MT-ND5    
20100805124 13899 T-C syn MT-ND5    
20100805123 13889 G-A C-Y MT-ND5    
20100805122 13884 A-G syn MT-ND5    
19990316044 13880 C-A S-Y MT-ND5 - -
20100805121 13880 C-A S-Y MT-ND5    
20100805120 13879 T-C S-P MT-ND5    
20120907003 13847         European
20100805119 13830 T-C syn MT-ND5    
20100805118 13827 A-G syn MT-ND5    
20040912005 13817 C-T T-I MT-ND5 Normal Arabs
20070612008 13813 G-A V-I MT-ND5 Normal Saudi Arabs
20040912004 13811 C-G A-G MT-ND5 Normal Arabs
20100805117 13803 A-G syn MT-ND5    
19990316043 13789 T-C T-H MT-ND5 - -
20100805116 13789 T-C Y-H MT-ND5    
20100805115 13785 C-T syn MT-ND5    
20100805114 13782 C-A I-M MT-ND5    
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    
20100805112 13766 C-T P-L MT-ND5    
20100805111 13765 C-T P-S MT-ND5    
20100805110 13762 T-G S-A MT-ND5    
20100805109 13759 G-A A-T MT-ND5    
20040317014 13752 T-C syn MT-ND5 Normal Saudi Arab
20120907012 13746         European
20120907014 13746         European
20010828036 13743 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20100805108 13743 T-C syn MT-ND5    
20100805107 13740 T-C syn MT-ND5    
20100805106 13734 T-C syn MT-ND5    
20100805105 13731 A-G syn MT-ND5    
20100805104 13722 A-G syn MT-ND5    
20010828035 13708 G-A A-T MT-ND5 Sporadic Parathyroid Adenoma -
20050813021 13708 G-A A-T MT-ND5 Normal Arabs
20100805103 13708 G-A A-T MT-ND5    
20100805102 13707 G-A syn MT-ND5    
20100805101 13705 C-T syn MT-ND5    
20100805100 13695 C-T syn MT-ND5    
20100805099 13681 A-G T-A MT-ND5    
20040317013 13680 C-T syn MT-ND5 Normal Saudi Arab
20100805098 13680 C-T syn MT-ND5    
20100805097 13665 T-C syn MT-ND5    
20120618014 13663 A-G I-V MT-ND5 LHON Iranian
20100805096 13661 A-G N-S MT-ND5    
20110801014 13659 T-C syn MT-ND5 NORMAL ASIAN
20100805095 13656 T-C syn MT-ND5    
20100805094 13651 A-G T-A MT-ND5    
20100805093 13650 C-T syn MT-ND5    
20050919037 13637 A-G Q-R MT-ND5 Normal Arabs
20100805092 13637 A-G Q-R MT-ND5    
20100805091 13632 A-G syn MT-ND5    
20100805090 13630 A-G T-A MT-ND5    
20100805089 13623 C-T syn MT-ND5    
20100805088 13620 T-C syn MT-ND5    
20050919024 13617 T-C syn MT-ND5 Normal Arabs
20100805087 13617 T-C syn MT-ND5    
20100805086 13608 T-C syn MT-ND5    
20100805085 13590 G-A syn MT-ND5    
20100805084 13587 C-T syn MT-ND5    
20120907011 13578         European
20010424007 13577 T-C I-T MT-ND5 Sporadic Parathyroid Adenoma -
20100805083 13569 T-C syn MT-ND5    
20100805082 13565 C-T S-F MT-ND5    
20100805081 13557 A-G syn MT-ND5    
20100805080 13545 C-T syn MT-ND5    
20041212001 13539 A-G syn MT-ND5 LHON Arabs
20100805079 13535 A-G N-S MT-ND5    
20100805078 13528 A-G T-A MT-ND5    
20140214017 13513 G-A D-N (Asp393Asn) MT-ND5 Leigh syndrome  
20061011002 13511 A-T K-M MT-ND5 Leigh Syndrome Caucasian
20100805077 13506 C-T syn MT-ND5    
20040317008 13500 T-C syn MT-ND5 Normal Saudi Arab
20100805076 13500 T-C syn MT-ND5    
20100805075 13485 A-G syn MT-ND5    
20100805074 13479 A-G syn MT-ND5    
20100805073 13477 G-A A-T MT-ND5    
20110801010 13476 A-G syn MT-ND5 NORMAL ASIAN
20080811002 13474 T-C syn MT-ND5 Leigh Syndrome Caucasian, Jew
20100805072 13470 A-G syn MT-ND5    
20090910001 13468 C-A L-M MT-ND5 Aminoglycoside-induced hearing loss Caucasian
20100805071 13468 C-A L-M MT-ND5    
20100805070 13466 G-C S-T MT-ND5    
20100805069 13437 T-C syn MT-ND5    
20100805068 13434 A-G syn MT-ND5    
20010828034 13422 A-G syn MT-ND5 Sporadic Parathyroid Adenoma -
20100805067 13404 T-C syn MT-ND5    
20100805066 13401 T-C syn MT-ND5    
20010828032 13392 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20010828033 13392 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20100805065 13392 T-C syn MT-ND5    
20100805064 13368 G-A syn MT-ND5    
20100805063 13359 G-A syn MT-ND5    
20100805062 13356 T-C syn MT-ND5    
20100805061 13326 T-C syn MT-ND5    
20100805060 13293 C-T syn MT-ND5    
20100805059 13281 T-C syn MT-ND5    
20100805058 13263 A-G syn MT-ND5    
20120618016 13255       LHON Iranian
20120618017 13255 T-A S-T MT-ND5 LHON Iranian
20010927001 13239 C-T syn MT-ND5 Mental Retardation Italian
20100805057 13225 G-A D-N MT-ND5    
20100805056 13215 T-C syn MT-ND5    
20100805055 13212 C-T syn MT-ND5    
20040210016 13188 C-T syn MT-ND5 NAION Arabs
20100805054 13147 C-T P-S MT-ND5    
20100805053 13146 C-T syn MT-ND5    
20100805052 13145 G-A S-N MT-ND5    
20100805051 13135 G-A A-T MT-ND5    
20100805050 13117 A-G I-V MT-ND5    
20100805049 13111 T-C syn MT-ND5    
20100805048 13105 A-G I-V MT-ND5    
20100805047 13104 A-G syn MT-ND5    
20100805046 13101 A-C syn MT-ND5    
20110105001 13077 C-T Leu247Leu MT-ND5 NSHL Caucasian
20100805045 13042 G-T A-S MT-ND5    
20100805044 13035 C-A syn MT-ND5    
20100805043 13032 A-G syn MT-ND5    
20021231002 13020 T-C syn MT-ND5 Myopathy, Diabetes, CPEO, Deafness Caucasian
20100805042 13020 T-C syn MT-ND5    
20100805041 13017 A-G syn MT-ND5    
20100805040 13015 T-C syn MT-ND5    
20110801013 13005 A-G syn MT-ND5 NORMAL ASIAN
20130226001 13000          
20100805039 12987 C-T syn MT-ND5    
20100805038 12969 C-G syn MT-ND5    
20040713016 12957 T-C syn MT-ND5 Esophageal Cancer Asian
20100805037 12957 T-C syn MT-ND5    
20010828031 12954 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20100805036 12954 T-C syn MT-ND5    
20100805034 12950 A-C N-T MT-ND5    
20100805035 12950 A-G N-S MT-ND5    
20100805033 12937 A-G M-V MT-ND5    
20100805032 12930 A-G syn MT-ND5    
20010828030 12879 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20100805031 12879 T-C syn MT-ND5    
20100805030 12876 C-T syn MT-ND5    
20100805029 12858 C-T syn MT-ND5    
20120618001 12851 T-A V-I MT-ND5 LHON Iranian
20070612007 12841 A-G I-V MT-ND5 Normal Saudi Arabs
20040210015 12822 A-G syn MT-ND5 NAION Arabs
20010822001 12813 C-T syn MT-ND5 Myopathy, Tremor Caucasian
20100805028 12813 C-T syn MT-ND5    
20100805027 12811 T-C Y-H MT-ND5    
20100805026 12810 A-G syn MT-ND5    
20100805025 12771 G-A syn MT-ND5    
20100805023 12768 A-G syn MT-ND5    
20100805024 12768 A-T W-C MT-ND5    
20100805022 12738 T-G syn MT-ND5    
20100805021 12732 T-C syn MT-ND5    
20100805020 12727 T-C syn MT-ND5    
20100805019 12723 A-G syn MT-ND5    
20110503027 12721 C-T syn MT-ND5 Congenital Non-syndromic Deafness  
20070327011 12714 T-C syn MT-ND5 Leigh Syndrome Arabs
20100805018 12714 T-C syn MT-ND5    
20100805017 12706 T-A F-I MT-ND5    
20080520004 12705 C-T syn MT-ND5 Ophthalmoparesis, single eye ptosis Asian
20100805016 12705 C-T syn MT-ND5    
20100805015 12698 T-G L-R MT-ND5    
20100805014 12696 T-C syn MT-ND5    
20100805013 12693 A-G syn MT-ND5    
20100805012 12684 G-A syn MT-ND5    
20100805011 12681 T-C syn MT-ND5    
20100805010 12678 T-C syn MT-ND5    
20100805009 12662 A-G N-S MT-ND5    
20100805008 12651 G-A syn MT-ND5    
20100805007 12642 A-G syn MT-ND5    
20100805006 12634 A-G I-V MT-ND5    
20100805005 12633 C-A syn MT-ND5    
20140217013 12631 T-C S-P MT-ND5 sCJD Han Chinese
20040720013 12630 G-A syn MT-ND5 Breast Cancer Asian
20061011001 12622 G-A V-I MT-ND5 Leigh Syndrome Caucasian
20051007001 12621 C-A F-L MT-ND5 Encephalopathy Caucasian
20100805004 12618 G-A syn MT-ND5    
20100805003 12616 T-C syn MT-ND5    
20100805002 12612 A-G syn MT-ND5    
20140731007 12611 T-C V-A MT-ND5 CAD+T2DM Asian Indian
20070327010 12609 T-C syn MT-ND5 Leigh Syndrome Arabs
20100805001 12599 T-C M-T MT-ND5    
20100212001 12588 C-T syn MT-ND5 sensorineural hearing loss Caucasian
20100804999 12588 C-T syn MT-ND5    
20140731006 12581 T-C L-P MT-ND5 CAD+T2DM Asian Indian
20140731005 12578 A-C K-T MT-ND5 CAD+T2DM Asian Indian
19990906001 12573 C-T syn MT-ND5 - -
20100804998 12561 G-A syn MT-ND5    
20050803001 12557 C-T T-I MT-ND5 Encephalomyopathy Caucasian
20100804997 12557 C-T T-I MT-ND5    
20100804996 12549 C-T syn MT-ND5    
20100804995 12546 A-T syn MT-ND5    
20091229022 12542 C-T A-V MT-ND5 Breast Cancer Africain
20100804994 12530 A-G N-S MT-ND5    
20100804993 12519 T-C syn MT-ND5    
20100804992 12501 G-A syn MT-ND5    
20100804991 12492 A-T syn MT-ND5    
20100804990 12490 A-G T-A MT-ND5    
20100804989 12477 T-C syn MT-ND5    
20110801001 12474 C-T syn MT-ND5 HEARING IMPAIRED and NORMAL ASIAN
20140217012 12473 T-C I-T MT-ND5 sCJD Han Chinese
20100804988 12441 T-C syn MT-ND5    
20040720012 12438 T-C syn MT-ND5 Breast Cancer Asian
20140731004 12437 A-C H-P MT-ND5 CAD+T2DM Asian Indian
20100804987 12432 C-T syn MT-ND5    
20100804986 12414 T-C syn MT-ND5    
20100804985 12406 G-A V-I MT-ND5    
20100804984 12403 C-T L-F MT-ND5    
20091229021 12400 A-G T-A MT-ND5 Breast Cancer Africain
20100804983 12396 T-C syn MT-ND5    
20100804982 12378 C-T syn MT-ND5    
20100804981 12376 T-G S-A MT-ND5    
20100804980 12373 A-G T-A MT-ND5    
20010424005 12372 G-A syn MT-ND5 Sporadic Parathyroid Adenoma -
20100804979 12372 G-A syn MT-ND5    
20140217008 12372 G-A L-L MT-ND5 sCJD Han Chinese
20100804978 12366 A-G syn MT-ND5    
20100804977 12362 C-T T-I MT-ND5    
20100804976 12358 A-G T-A MT-ND5    
20100804975 12354 T-C syn MT-ND5    
20141116001 12350 C-A T 5 N MT-ND5 hearing loss + psychomotor delay Causasian / Africain
20100804974 12346 C-T H-Y MT-ND5    
20100804973 12342 C-G syn MT-ND5    
20140217011 12326 A-G tRNA MT-TL2 sCJD Han Chinese
20100804972 12308 A-G tRNA MT-TL2    
20140217010 12308 A-G tRNA MT-TL2 sCJD Han Chinese
20140217009 12297 T-C tRNA MT-TL2 sCJD Han Chinese
20100804971 12285 T-C tRNA MT-TL2    
20040713006 12284 C-T tRNA MT-TL2 Oral Cancer Asian
20100804970 12265 A-G tRNA MT-TS2    
20110302017 12256 G-A tRNA MT-TS2 combined complex I + IV deficiency, Mitochondrial Myopathy  
20010303002 12251 A-G noncod MT-TS2 Breast Cancer Caucasian
20070527001 12251 A-G tRNA MT-TS2 Breast Cancer Caucasian
20100804969 12246 C-T tRNA MT-TS2    
20010301008 12237 C-T noncod MT-TS2 Breast Cancer Caucasian
20110704004 12236 G-A tRNA MT-TS2 non-syndromic deafness  
20060227001 12207 G-A tRNA MT-TS2 Mixed MELAS/MERRF Chinese mother and Caucasian father
20100804968 12192 G-A tRNA MT-TH    
20100804967 12188 T-C tRNA MT-TH    
20100804966 12172 A-G tRNA MT-TH    
20100804965 12171 A-G tRNA MT-TH    
20100804964 12166 T-C tRNA MT-TH    
20100804963 12136 T-C syn MT-ND4    
20080416001 12133 C-T syn MT-ND4 MELAS Caucasian
20100804962 12133 C-T syn MT-ND4    
20100804961 12127 G-A syn MT-ND4    
20100804959 12083 T-A S-T MT-ND4    
20100804960 12083 T-G S-A MT-ND4    
20100804958 12082 A-G syn MT-ND4    
20140214001 12071 T-C Phe438Pro MT-ND4 control Caucasian
20100804957 12070 G-A syn MT-ND4    
20100804956 12063 C-T T-I MT-ND4    
20110503026 12057 A-G E-G MT-ND4 Congenital Non-syndromic Deafness  
20040209045 12052 A-G syn MT-ND4 Normal MARATHI
20100804955 12030 A-G N-S MT-ND4    
20100804954 12025 C-T syn MT-ND4    
20001017005 12020 C-T syn MT-ND4 Lung Cancer African/American
20120618008 12012 C-A S-STOP MT-ND4 LHON Iranian
20040209007 12007 G-A syn MT-ND4 Oral Cancer Bengali
20100804953 12007 G-A syn MT-ND4    
20100804952 11977 C-T syn MT-ND4    
20040713015 11976 A-C Y-S MT-ND4 Esophageal Cancer Asian
20040209022 11969 G-A A-T MT-ND4 Oral Cancer MARATHI
20100804951 11969 G-A A-T MT-ND4    
20100804950 11965 C-T syn MT-ND4    
20110801015 11965 C-G syn MT-ND4 NORMAL ASIAN
20100804949 11947 A-G syn MT-ND4    
20100804948 11944 T-C syn MT-ND4    
20100804947 11939 C-T syn MT-ND4    
20100804946 11938 C-T syn MT-ND4    
20040210025 11935 T-C syn MT-ND4 NAION Arabs
20100804945 11932 C-T syn MT-ND4    
20040825002 11930 A-G I-V MT-ND4 Postural Tachycardia Syndrome (POTS) Caucasian
20080117009 11926 A-G syn MT-ND4 Deafness Caucasian/Africain
20100804944 11923 A-G syn MT-ND4    
20040209021 11914 G-A syn MT-ND4 Oral Cancer MARATHI
20100804943 11914 G-A syn MT-ND4    
20100804942 11893 A-G syn MT-ND4    
20040317009 11887 G-A syn MT-ND4 Normal Saudi Arab
20100804941 11887 G-A syn MT-ND4    
20040720011 11878 T-C syn MT-ND4 Breast Cancer Asian
20100804940 11878 T-C syn MT-ND4    
20070327009 11875 T-C syn MT-ND4 Leigh Syndrome Arabs
20100804939 11869 C-A syn MT-ND4    
20100804938 11864 T-C syn MT-ND4    
20040209006 11855 A-C N-H MT-ND4 Oral Cancer Asian Indian
20100804937 11852 G-A A-T MT-ND4    
20100804936 11851 C-T syn MT-ND4    
20100804935 11840 C-T syn MT-ND4    
20050813010 11830 T-G F-L MT-ND4 Normal Arabs
20040209048 11827 T-C syn MT-ND4 Normal GUJARATI
20040209046 11818 A-C syn MT-ND4 Normal MARATHI
20100804934 11815 C-T syn MT-ND4    
20100804933 11812 A-G syn MT-ND4    
20100804932 11809 T-C syn MT-ND4    
20040209055 11808 C-A T-N MT-ND4 Normal GUJARATI
20100804931 11803 T-C syn MT-ND4    
20100804930 11788 C-T syn MT-ND4    
20100804929 11778 G-A R-H MT-ND4    
20051007005 11776 T-G S-Ter MT-ND4 - Caucasian
20040210024 11761 C-T syn MT-ND4 NAION Arabs
20080117010 11743 C-T syn MT-ND4 Deafness Caucasian/Africain
20010303001 11734 A-G syn MT-ND4 Breast Cancer Caucasian
19990316041 11732 T-C syn MT-ND4 - -
20100804928 11732 T-C syn MT-ND4    
20010303004 11723 A-G T-A MT-ND4 Breast Cancer Caucasian
20040209005 11719 G-A syn MT-ND4 Oral Cancer Asian Indian
20100804927 11719 G-A syn MT-ND4    
20100804926 11701 T-C syn MT-ND4    
20110503025 11698 C-T syn MT-ND4 Congenital Non-syndromic Deafness  
20010303008 11696 G-A V-I MT-ND4 Breast Cancer Caucasian
20100804925 11696 G-A V-I MT-ND4    
20060130002 11674 C-T syn MT-ND4 Mental Retardation Caucasian
20100804924 11674 C-T syn MT-ND4    
20100804923 11654 A-G T-A MT-ND4    
20100804922 11653 A-G syn MT-ND4    
20001017007 11641 A-G syn MT-ND4 Lung Cancer African/American
20040317015 11620 A-G syn MT-ND4 Normal Saudi Arab
20010828029 11617 T-C syn MT-ND4 Sporadic Parathyroid Adenoma -
20100804921 11590 A-G syn MT-ND4    
20070527006 11567 A-G I-V MT-ND4 Breast Cancer Caucasian
20100804920 11566 A-G syn MT-ND4    
20100804919 11533 C-T syn MT-ND4    
20040209042 11530 A-G M-Term MT-ND4 Oral Cancer MARATHI
20140730012 11528 A-C M-L MT-ND4 CAD+T2DM Asian Indian
20040209023 11518 G-A syn MT-ND4 Oral Cancer MALAYALI
20100804918 11515 C-A syn MT-ND4    
20040209017 11506 T-C syn MT-ND4 Oral Cancer MUSLIM
20100804917 11506 T-C syn MT-ND4    
20100804916 11504 A-G I-V MT-ND4    
20070527008 11503 C-G syn MT-ND4 Breast Cancer Caucasian
20100804915 11485 T-C syn MT-ND4    
19990316040 11470 A-G syn MT-ND4 - -
20100804914 11470 A-G syn MT-ND4    
20040209018 11467 A-G syn MT-ND4 Oral Cancer Asian Indian
20040209050 11467 A-G syn MT-ND4 Normal MARATHI
20100804913 11467 A-G syn MT-ND4    
20140217007 11467 A-G L-L MT-ND4 sCJD Han Chinese
20100804912 11461 A-G syn MT-ND4    
20100804911 11449 A-G syn MT-ND4    
20100804910 11447 G-A V-M MT-ND4    
20040317006 11440 G-A syn MT-ND4 Normal Saudi Arab
20100804909 11440 G-A syn MT-ND4    
20040210023 11422 C-T syn MT-ND4 NAION Arabs
20040713005 11407 C-T syn MT-ND4 Oral Cancer Asian
20140217005 11407 C-T L-L MT-ND4 sCJD Han Chinese
20040825001 11404 A-G syn MT-ND4 Postural Tachycardia Syndrome (POTS) Caucasian
20040317005 11399 T-C syn MT-ND4 Normal Saudi Arab
20100804908 11386 T-C syn MT-ND4    
20100804907 11383 T-C syn MT-ND4    
20100804906 11380 A-G syn MT-ND4    
20100804905 11379 T-G M-Ter MT-ND4    
20100804904 11377 G-A syn MT-ND4    
20140217006 11375 A-C K-Q MT-ND4 sCJD Han Chinese
20040210022 11362 A-G syn MT-ND4 NAION Arabs
20080120002 11362 A-G syn MT-ND4 KSS Caucasian/Africain
20100804903 11353 T-C syn MT-ND4    
20040209032 11339 T-C syn MT-ND4 Oral Cancer Asian Indian
20100804902 11339 T-C syn MT-ND4    
20070612006 11337 A-G N-S MT-ND4 Normal Saudi Arabs
20100804901 11337 A-G N-S MT-ND4    
20140730010 11336 A-C N-H MT-ND4 CAD+T2DM Asian Indian
20040209033 11332 C-T syn MT-ND4 Oral Cancer Asian Indian
20100804900 11332 C-T syn MT-ND4    
20091229020 11329 A-G syn MT-ND4 Breast Cancer Africain
20100804899 11326 C-T syn MT-ND4    
20040209047 11314 A-C E-D MT-ND4 Normal GUJARATI
20001017004 11302 C-T syn MT-ND4 Lung Cancer African/American
20100804898 11299 T-C syn MT-ND4    
20091229019 11287 T-C syn MT-ND4 Breast Cancer Africain
20100804897 11287 T-C syn MT-ND4    
20051225001 11260 T-A syn MT-ND4 LHON Caucasian
20060122001 11260 T-A syn MT-ND4 Mitochondrial Myopathy Caucasian
20100804896 11253 T-C I-T MT-ND4    
20100804895 11251 A-G syn MT-ND4    
20100804894 11242 C-G syn MT-ND4    
20100804893 11233 T-C syn MT-ND4    
20100804892 11221 A-G syn MT-ND4    
20040209031 11215 C-T syn MT-ND4 Oral Cancer Asian Indian
20100804891 11204 T-C F-L MT-ND4    
20100804890 11203 C-T syn MT-ND4    
20100804889 11197 C-T syn MT-ND4    
20000825007 11177 C-T P-S MT-ND4 Pancreatic Cancer Caucasian
20001017006 11176 G-A syn MT-ND4 Lung Cancer African/American
20100804888 11176 G-A syn MT-ND4    
20100804887 11172 A-G N-S MT-ND4    
19990316039 11167 A-G syn MT-ND4 - -
20100804886 11167 A-G syn MT-ND4    
20100804885 11155 C-T syn MT-ND4    
20001017008 11152 T-C syn MT-ND4 Lung Cancer Arabs
20100804884 11152 T-C syn MT-ND4    
20100804883 11147 T-C syn MT-ND4    
20040209015 11140 C-G I-M MT-ND4 Oral Cancer MARATHI
20100804882 11101 A-G syn MT-ND4    
20010301001 11087 T-C F-L MT-ND4 - Caucasian
20100804881 11084 A-G T-A MT-ND4    
20040209004 11083 A-G syn MT-ND4 Oral Cancer Asian Indian
20040209051 11083 A-G syn MT-ND4 Normal MARATHI
20100804880 11083 A-G syn MT-ND4    
20140730009 11081 A-G M-V MT-ND4 CAD+T2DM Asian Indian
20040209012 11075 T-C syn MT-ND4 Oral Cancer MARATHI
20100804879 11075 T-C syn MT-ND4    
20040209041 11074 C-T syn MT-ND4 Oral Cancer MARATHI
20040209040 11073 C-T S-F MT-ND4 Oral Cancer MARATHI
20100804878 11071 C-T syn MT-ND4    
20040209039 11070 T-A I-N MT-ND4 Oral Cancer MARATHI
20040209038 11067 A-T Q-L MT-ND4 Oral Cancer MARATHI
20040209037 11054 C-A L-M MT-ND4 Oral Cancer MARATHI
20040209054 11050 T-C syn MT-ND4 Normal GUJARATI
20100804877 11050 T-C syn MT-ND4    
20140214015 11050 T-C S-S MT-ND4   Caucasian
20040209016 11047 C-A syn MT-ND4 Oral Cancer MUSLIM
20100804876 11039 C-T L-F MT-ND4    
20100804875 11025 T-C L-P MT-ND4    
20040209030 11023 A-G syn MT-ND4 Oral Cancer Asian Indian
20100804874 11017 T-C syn MT-ND4    
19990316038 11016 G-A S-N MT-ND4 - -
20040209003 11016 G-A S-N MT-ND4 Oral Cancer Asian Indian
20030918005 11015 A-G S-G MT-ND4 Liver Cancer Asian
20100804873 11009 T-C syn MT-ND4    
20100804872 11005 C-T syn MT-ND4    
19990316037 10978 A-G syn MT-ND4 - -
20100804871 10978 A-G syn MT-ND4    
20100804870 10972 A-G syn MT-ND4    
20040209036 10969 C-T syn MT-ND4 Oral Cancer MARATHI
20100804869 10963 A-G syn MT-ND4    
20100804868 10927 T-C syn MT-ND4    
20100804867 10920 C-T P-L MT-ND4    
20100804866 10915 T-C syn MT-ND4    
20100804865 10908 T-C F-S MT-ND4    
20100804864 10907 T-C F-L MT-ND4    
20100804863 10900 C-T syn MT-ND4    
20100804862 10895 A-G N-D MT-ND4    
20140730008 10888 C-A N-K MT-ND4 CAD+T2DM Asian Indian
20050813009 10885 T-A F-L MT-ND4 Normal Arabs
20100804861 10885 T-C syn MT-ND4    
20050813008 10883 T-A F-I MT-ND4 Normal Arabs
20100804860 10882 T-C syn MT-ND4    
19990316036 10876 A-G syn MT-ND4 - -
20100804859 10876 A-G syn MT-ND4    
19990316035 10873 T-C syn MT-ND4 - -
20040209002 10873 T-C syn MT-ND4 Oral Cancer Asian Indian
20100804858 10873 T-C syn MT-ND4    
20140214009 10866 T-C I-T (Ile36Thr) MT-ND4 myasthenia gravis Caucasian
20100804857 10861 T-C syn MT-ND4    
20040209014 10850 A-C S-R MT-ND4 Oral Cancer MARATHI
20040209028 10845 C-T T-I MT-ND4 Oral Cancer SINDHI
20100804856 10845 C-T T-I MT-ND4    
20091229018 10837 C-T syn MT-ND4 Breast Cancer Africain
20040209011 10826 A-G I-V MT-ND4 Oral Cancer MARATHI
20100804855 10825 A-G syn MT-ND4    
20040209044 10823 A-G M-V MT-ND4 Normal MARATHI
20100804854 10822 C-T syn MT-ND4    
20100804853 10819 A-G syn MT-ND4    
20040209001 10817 A-T K-Term MT-ND4 Oral Cancer GUJARATI
20001017009 10816 A-G syn MT-ND4 Lung Cancer African/American
20091229017 10816 A-G syn MT-ND4 Breast Cancer Africain
20040209026 10814 A-C K-Q MT-ND4 Oral Cancer SINDHI
20040209025 10812 C-T S-F MT-ND4 Oral Cancer SINDHI
20040209024 10811 T-C S-P MT-ND4 Oral Cancer SINDHI
20001017002 10810 T-C syn MT-ND4 Lung Cancer African/American
20100804852 10810 T-C syn MT-ND4    
20100804851 10807 A-G syn MT-ND4    
20100804850 10790 T-C syn MT-ND4    
20010828028 10775 A-G V-I MT-ND4 Sporadic Parathyroid Adenoma -
20100804849 10768 A-G syn MT-ND4    
20010828027 10754 A-C syn MT-ND4L Sporadic Parathyroid Adenoma -
20100804847 10754 A-C syn MT-ND4L    
20100804848 10754 A-G syn MT-ND4L    
20110503024 10751 C-A N-K MT-ND4L Congenital Non-syndromic Deafness  
20100804846 10750 A-G N-S MT-ND4L    
20100804845 10733 C-T syn MT-ND4L    
20100804844 10709 A-C syn MT-ND4L    
20010303007 10707 T-G S-A MT-ND4L Breast Cancer Caucasian
20001017003 10688 G-A syn MT-ND4L Lung Cancer African/American
20100804843 10688 G-A syn MT-ND4L    
20100804842 10685 G-A syn MT-ND4L    
20081022001 10680 G-A A-T MT-ND4L LHON Han Chinese
20100804841 10680 G-A A-T MT-ND4L    
20100804840 10670 C-T syn MT-ND4L    
20050809016 10668 G-A A-T MT-ND4L Normal Arabs
20140730007 10668 G-A A-T MT-ND4L CAD+T2DM Asian Indian
20001017010 10667 T-C syn MT-ND4L Lung Cancer African/American
20100804839 10664 C-A syn MT-ND4L    
20100804838 10658 A-G syn MT-ND4L    
20091228001 10649 T-C syn MT-ND4L NSHL Caucasian
20100804837 10649 T-C syn MT-ND4L    
20100804836 10646 G-A syn MT-ND4L    
20100804835 10628 C-T syn MT-ND4L    
20100804834 10619 C-T syn MT-ND4L    
20100804833 10609 T-C M-T MT-ND4L    
20100804832 10607 C-T syn MT-ND4L    
20100804831 10601 T-C syn MT-ND4L    
20100804830 10598 A-G syn MT-ND4L    
20100804829 10595 T-C syn MT-ND4L    
20140731003 10592 C-T syn MT-ND4L CAD Asian Indian
20100804828 10589 G-A syn MT-ND4L    
20100804827 10586 G-A syn MT-ND4L    
20110801004 10577 A-G syn MT-ND4L NORMAL ASIAN
20100804826 10559 A-G syn MT-ND4L    
20120618007 10557 C-A L-I MT-ND4L LHON Iranian
20100804825 10551 T-G S-A MT-ND4L    
20100804824 10550 A-G syn MT-ND4L    
20010424004 10522 G-A G-E MT-ND4L Sporadic Parathyroid Adenoma -
20100804823 10506 A-G T-A MT-ND4L    
20100804822 10499 A-G syn MT-ND4L    
20100804821 10493 T-C syn MT-ND4L    
20100804820 10487 A-T M-I MT-ND4L    
20100804819 10463 T-C tRNA MT-TR    
20100804817 10410 T-A tRNA MT-TR    
20100804818 10410 T-C tRNA MT-TR    
20120618003 10399 C-T A-T MT-ND3 LHON Iranian
20050919036 10398 A-G T-A MT-ND3 Normal Arabs
20100804815 10398 A-G T-A MT-ND3    
20100804816 10398 A-T T-S MT-ND3    
20100804814 10394 C-T syn MT-ND3    
20140318001 10394 C-A D-E MT-ND3 Cardiomyopathy caucasian
20100804813 10373 G-A syn MT-ND3    
20120124008 10373 G-C syn MT-ND3 Normal Indonesian
20100804812 10361 T-C syn MT-ND3    
20110503023 10348 T-C I-T MT-ND3 Congenital Non-syndromic Deafness  
20100804811 10344 A-G I-V MT-ND3    
20100804810 10340 A-G syn MT-ND3    
20140730006 10331 C-T syn MT-ND3 CAD+T2DM Asian Indian
20010828026 10325 G-A syn MT-ND3 Sporadic Parathyroid Adenoma -
20100804809 10325 G-A syn MT-ND3    
20100804808 10323 A-G M-V MT-ND3    
20100804807 10321 T-C V-A MT-ND3    
20100804806 10320 G-A V-I MT-ND3    
20100804805 10310 G-A syn MT-ND3    
20080117008 10308 C-T syn MT-ND3 Deafness Caucasian/Africain
20040317004 10289 A-G syn MT-ND3 Normal Saudi Arab
20100804804 10289 A-G syn MT-ND3    
20100804803 10283 A-G syn MT-ND3    
20040713014 10282 T-A L-Q MT-ND3 Esophageal Cancer Asian
20070327008 10265 T-C syn MT-ND3 Leigh Syndrome Arabs
20100804802 10265 T-C syn MT-ND3    
20050919022 10262 A-G syn MT-ND3 Normal Arabs
20100804801 10262 A-G syn MT-ND3    
20100804800 10256 T-C syn MT-ND3    
20100804799 10245 T-C syn MT-ND3    
20050919021 10238 T-C syn MT-ND3 Normal Arabs
20100804798 10238 T-C syn MT-ND3    
20100804797 10237 T-C I-T MT-ND3    
20140730005 10236 A-G I-V MT-ND3 CAD+T2DM Asian Indian
20100804796 10235 T-C syn MT-ND3    
20100804795 10232 A-G syn MT-ND3    
20050928002 10230 G-C V-L MT-ND3 Optic Neuropathy, visual loss Caucasian
20100804794 10227 T-C syn MT-ND3    
20100804793 10217 A-G syn MT-ND3    
20100804792 10211 C-T syn MT-ND3    
20100804791 10204 T-C V-A MT-ND3    
20100804790 10196 C-T syn MT-ND3    
20100804789 10192 C-T S-F MT-ND3    
20100804788 10191 T-C S-P MT-ND3    
20100804787 10172 G-A syn MT-ND3    
20100804786 10169 C-T syn MT-ND3    
20050813007 10159 C-G S-C MT-ND3 Normal Arabs
20110224001 10158 T-G S-A MT-ND3 LHON South Indian
20100804785 10154 A-G syn MT-ND3    
20030918004 10153 A-C E-A MT-ND3 Liver Cancer Asian
20100804784 10151 A-G syn MT-ND3    
20050809015 10143 G-A G-S MT-ND3 Normal Arabs
20100804783 10142 C-T syn MT-ND3    
20100804782 10124 T-C syn MT-ND3    
20100804780 10116 A-C I-L MT-ND3    
20100804781 10116 A-G I-V MT-ND3    
20001017011 10115 T-C syn MT-ND3 Lung Cancer Caucasian
20100804779 10115 T-C syn MT-ND3    
20100804778 10113 A-T I-F MT-ND3    
20100804777 10112 A-C M-I MT-ND3    
20100804776 10110 A-C M-L MT-ND3    
20100804775 10109 A-T syn MT-ND3    
20070327007 10098 G-A A-T MT-ND3 Deafness Arabs
20100804774 10097 A-G syn MT-ND3    
20100804773 10084 T-C I-T MT-ND3    
20100804772 10081 T-C M-T MT-ND3    
20050919035 10079 A-C L-F MT-ND3 Normal Arabs
20000825012 10044 A-G noncod MT-TG Pancreatic Cancer Caucasian
20100804771 10044 A-G tRNA MT-TG    
20050813006 10034 T-C tRNA MT-TG Normal Arabs
20100804770 10034 T-C tRNA MT-TG    
20050813019 10031 T-C tRNA MT-TG Normal Arabs
20100804769 10018 A-G tRNA MT-TG    
20100804768 10005 A-G tRNA MT-TG    
20090129014 9987 T-A S-T MT-CO3 COPD Caucasian
20100804767 9986 G-A syn MT-CO3    
20140217004 9974 C-T I-I MT-CO3 sCJD Han Chinese
20100804766 9966 G-A V-I MT-CO3    
20100804765 9962 G-A syn MT-CO3    
20100804764 9948 G-A V-I MT-CO3    
20100804763 9947 G-A syn MT-CO3    
19991118012 9941 A-G syn MT-CO3 Subfertile Unknown
20100804762 9938 T-C syn MT-CO3    
20090129013 9933 C-A H-N MT-CO3 COPD Caucasian
20100804761 9932 G-A syn MT-CO3    
20100804760 9903 T-C F-L MT-CO3    
19991118011 9899 T-C syn MT-CO3 Control Unknown
20100804759 9899 T-C syn MT-CO3    
20090129011 9869 C-G syn MT-CO3 COPD Caucasian
20100804758 9845 T-C syn MT-CO3    
20100804757 9840 T-A S-T MT-CO3    
20040912003 9822 C-T L-F MT-CO3 Normal Arabs
20100804755 9809 A-C syn MT-CO3    
20100804756 9809 A-G syn MT-CO3    
20090129010 9806 C-T syn MT-CO3 COPD Caucasian
20100804754 9804 G-A A-T MT-CO3    
20100804753 9801 G-A V-M MT-CO3    
20100804752 9800 T-C syn MT-CO3    
20031029003 9794 A-G syn MT-CO3 LHON Arabs
20100804751 9770 T-C syn MT-CO3    
20140214008 9769 T-C I-T (Ile188Thr) MT-CO3 myasthenia gravis Caucasian
20100804750 9761 C-T syn MT-CO3    
20100804749 9755 G-A syn MT-CO3    
20100804748 9753 G-A E-K MT-CO3    
20100804747 9742 C-T S-L MT-CO3    
20100804746 9738 G-A A-T MT-CO3    
20140217003 9732 C-T L-L MT-CO3 sCJD Han Chinese
20100804745 9725 T-C syn MT-CO3    
20100804744 9716 T-C syn MT-CO3    
20100804743 9704 A-T syn MT-CO3    
20100804742 9698 T-C syn MT-CO3    
20100804741 9693 C-T syn MT-CO3    
20100804740 9682 T-C M-T MT-CO3    
20050813018 9675 A-C N-H MT-CO3 Normal Arabs
20100804739 9670 A-G N-S MT-CO3    
20100804738 9667 A-G N-S MT-CO3    
20100804737 9664 A-G E-G MT-CO3    
20010828025 9656 T-C syn MT-CO3 Sporadic Parathyroid Adenoma -
20100804736 9656 T-C syn MT-CO3    
20110801012 9635 A-G syn MT-CO3 NORMAL ASIAN
20040217002 9632 A-G syn MT-CO3 Encephalopathy, LHON Caucasian
20100804735 9632 A-G syn MT-CO3    
20070527003 9621 G-A A-T MT-CO3 Breast Cancer Caucasian
20080117007 9617 A-G syn MT-CO3 Deafness Caucasian/Africain
20120110005 9605       Cardiomyopathy Caucasian/Africain
20100804734 9591 G-A V-I MT-CO3    
20090129009 9590 A-G syn MT-CO3 COPD Caucasian
20110801016 9581 T-C syn MT-CO3 Mild Hearing loss Asian
20100804733 9575 G-A syn MT-CO3    
19991118008 9548 G-A syn MT-CO3 Subfertile unknown
20100804732 9548 G-A syn MT-CO3    
19990218008 9545 A-G syn MT-CO3 LHON Hispanic
20100804731 9545 A-G syn MT-CO3    
20100804730 9540 T-C syn MT-CO3    
20050809014 9539 A-T Q-H MT-CO3 Normal Arabs
20030918003 9530 T-C syn MT-CO3 Liver Cancer Asian
20100804729 9528 C-A P-T MT-CO3    
20100804728 9521 C-T syn MT-CO3    
20031029002 9509 T-C syn MT-CO3 LHON Arabs
20080117006 9495 T-C F-L MT-CO3 Deafness Caucasian/Africain
19991118006 9477 G-A V-I MT-CO3 Control unknown
19991118007 9477 G-A V-I MT-CO3 Subfertile Unknown
20050919034 9477 G-A V-I MT-CO3 Normal Arabs
20100804727 9477 G-A V-I MT-CO3    
20100804726 9469 C-T T-I MT-CO3    
20080117005 9467 T-C syn MT-CO3 Deafness Caucasian/Africain
20070612005 9438 G-A G-S MT-CO3 Normal Saudi Arabs
20100804725 9438 G-A G-S MT-CO3    
20010828022 9426 C-T P-S MT-CO3 Sporadic Parathyroid Adenoma -
20010828024 9426 C-T P-S MT-CO3 Sporadic Parathyroid Adenoma -
20080414004 9425 A-G syn MT-CO3 Hypertrophic Cardiomyopathy Caucasian
20100804724 9425 A-G syn MT-CO3    
20021231011 9410 A-G syn MT-CO3 Myopathy Caucasian
20120110002 9404       Leigh Syndrome Caucasian/Africain
20100804723 9398 A-G syn MT-CO3    
20100804722 9391 C-T T-M MT-CO3    
20100804721 9389 A-G syn MT-CO3    
20100804720 9383 C-T syn MT-CO3    
19990323001 9380 G-A syn MT-CO3 Myopathy Caucasian
19991118009 9380 G-A syn MT-CO3 Subfertile Unknown
20100804719 9380 G-A syn MT-CO3    
19991118010 9377 G-A syn MT-CO3 Subfertile Unknown
20100804718 9377 A-G syn MT-CO3    
20100804717 9368 A-G syn MT-CO3    
20100804716 9365 C-T syn MT-CO3    
20100804715 9351 A-C T-P MT-CO3    
20100804714 9350 A-G syn MT-CO3    
20060518003 9338 A-G syn MT-CO3 Myopathy Caucasian
20050809013 9337 T-C M-T MT-CO3 Normal Arabs
20100804713 9337 T-C M-T MT-CO3    
20080120001 9335 C-T syn MT-CO3 KSS Caucasian/Africain
20100804712 9335 C-A syn MT-CO3    
20080117004 9329 G-A syn MT-CO3 Deafness Caucasian/Africain
20100804711 9325 T-C M-T MT-CO3    
20100804710 9316 T-A F-Y MT-CO3    
20100804709 9301 C-T A-V MT-CO3    
20030925001 9300 G-A A-T MT-CO3 Myopathy Caucasian
20100804708 9300 G-A A-T MT-CO3    
20100804707 9299 A-G syn MT-CO3    
20100804706 9296 C-T syn MT-CO3    
19990323002 9293 C-T syn MT-CO3 Ophthalmoplegia,Deafness Caucasian
20100804705 9287 G-A syn MT-CO3    
20100804704 9282 C-T syn MT-CO3    
20100804703 9275 A-G syn MT-CO3    
20100804702 9266 G-A syn MT-CO3    
19990323003 9254 A-G syn MT-CO3 Myopathy Caucasian
20030918002 9254 A-G syn MT-CO3 Liver Cancer Asian
20100804701 9254 A-G syn MT-CO3    
20090129008 9242 A-G syn MT-CO3 COPD Caucasian
20100804700 9233 T-C syn MT-CO3    
20100804699 9230 T-C syn MT-CO3    
20100804698 9221 A-G syn MT-CO3    
20100804697 9214 A-G H-R MT-CO3    
20120907007 9203         European
20100804696 9196 G-A D-N MT-ATP6    
20090714007 9186 C-A syn MT-ATP6 Aminoglycoside-induced hearing loss Caucasian
20040713013 9182 G-A S-N MT-ATP6 Esophageal Cancer Asian
20100804695 9181 A-G S-G MT-ATP6    
20100804694 9165 T-C syn MT-ATP6    
20040811002 9163 G-A V-I MT-ATP6 - -
20040811001 9152 T-C I-T MT-ATP6 - -
19991118004 9150 G-A syn MT-ATP6 Control Unknown
19991118013 9150 A-G syn MT-ATP6 Control Unknown
20100804693 9150 A-G syn MT-ATP6    
20100804692 9139 G-A A-T MT-ATP6    
20100804691 9129 C-T syn MT-ATP6    
20100804690 9128 T-C I-T MT-ATP6    
20100804689 9126 T-C syn MT-ATP6    
20100804688 9123 G-A syn MT-ATP6    
20100804687 9120 A-G syn MT-ATP6    
20100804686 9117 T-C syn MT-ATP6    
20100804685 9115 A-G I-V MT-ATP6    
20070327006 9111 T-C syn MT-ATP6 Leigh Syndrome Arabs
20100804684 9108 A-G syn MT-ATP6    
20070612004 9103 T-C F-L MT-ATP6 Normal Saudi Arabs
20100804683 9101 T-G I-S MT-ATP6    
20100804682 9100 A-G I-V MT-ATP6    
20100804681 9099 C-A I-M MT-ATP6    
20100804680 9098 T-C I-T MT-ATP6    
20100804679 9096 T-C syn MT-ATP6    
20100804678 9093 A-G syn MT-ATP6    
20100804677 9078 T-C syn MT-ATP6    
20100804676 9072 A-G syn MT-ATP6    
20100804675 9070 T-G S-A MT-ATP6    
20100804674 9068 T-C M-T MT-ATP6    
20100804673 9064 G-A A-T MT-ATP6    
20110503022 9061 C-T syn MT-ATP6 Congenital Non-syndromic Deafness  
20080729001 9058 A-G T-A MT-ATP6 Normal Caucasian
20100804672 9056 C-T A-V MT-ATP6    
19991118005 9055 G-A A-T MT-ATP6 Subfertile Unknown
20100804670 9055 G-A A-T MT-ATP6    
20100804671 9055 G-C A-P MT-ATP6    
19990511001 9053 G-A syn MT-ATP6 Normal Chinese
20100804669 9041 A-G H-R MT-ATP6    
20100804668 9039 G-A syn MT-ATP6    
20100804667 9035 T-C L-P MT-ATP6    
20070327003 9024 A-G syn MT-ATP6 Normal Arabs
20100804666 9022 G-A A-T MT-ATP6    
20100804665 9015 C-T syn MT-ATP6    
20070327005 9012 T-G syn MT-ATP6 Leigh Syndrome Arabs
19990721002 9007 A-G T-A MT-ATP6 MELAS-like Caucasian
20090529005 9007 A-T T-S MT-ATP6 Infertility Africain/caucasian
20100804664 9007 A-G T-A MT-ATP6    
20100804663 9006 A-G syn MT-ATP6    
20100804662 9000 A-G syn MT-ATP6    
20100804661 8994 G-A syn MT-ATP6    
20100804660 8993 T-G L-R MT-ATP6    
20010828021 8987 A-G M-V MT-ATP6 Sporadic Parathyroid Adenoma -
20110503021 8985 A-G syn MT-ATP6 Congenital Non-syndromic Deafness  
20100804659 8982 A-G syn MT-ATP6    
20100804658 8975 T-C L-P MT-ATP6    
20120418001 8969 G-A S-N MT-ATP6    
20100804657 8966 T-C I-T MT-ATP6