MITOMAP: Unpublished mtDNA Variants {ARCHIVED, no longer updated}

To submit unpublished mtDNA variant data to an online database, please contact lishen@chla.usc.edu at MSeqDR.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 / GeneSorted descending Patient Group / Phenotype Ethnographic Info
20160806006 15906 A-T   tRNA.T   Iranian
20161022001 1147 G-A noncod RNR1 hearing loss Iranian
20050919018 5836 A-G non-coding MT-TY Normal Arabs
20100804369 5836 A-G non-coding MT-TY    
20110302013 5839 C-T non-coding MT-TY complex I deficiency  
20100804370 5840 C-T non-coding MT-TY    
20070612002 5843 A-G non-coding MT-TY Normal Saudi Arabs
20070724009 5855 A-G non-coding MT-TY Leigh Syndrome Caucasian/Africain
20100804345 5515 A-G non-coding MT-TW    
20070724005 5523 T-G non-coding MT-TW Leigh Syndrome Caucasian/Africain
20100804346 5527 A-G non-coding MT-TW    
20100804347 5553 T-C non-coding MT-TW    
20070724006 5556 G-A non-coding MT-TW Leigh Syndrome Caucasian/Africain
20080520002 5558 A-G noncod MT-TW Ophthalmoparesis, single eye ptosis Asian
20100804348 5558 A-G non-coding MT-TW    
20070724007 5559 A-G non-coding MT-TW Leigh Syndrome Caucasian/Africain
20110302021 1607 T-C tRNA MT-TV complex I deficiency  
20101005001 1640 A-G tRNA MT-TV MELAS , mitochondrial diabetes, bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, Africain
20100804042 1664 G-A tRNA MT-TV    
20100805340 15891 C-T tRNA MT-TT    
20100805341 15892 T-C tRNA MT-TT    
20100805342 15894 G-A tRNA MT-TT    
20100805343 15900 T-C tRNA MT-TT    
20050919026 15904 C-T tRNA MT-TT Normal Arabs
20100805344 15904 C-T tRNA MT-TT    
20100805345 15905 T-C tRNA MT-TT    
20100805346 15907 A-G tRNA MT-TT    
20100805347 15908 T-C tRNA MT-TT    
20100805348 15924 A-G tRNA MT-TT    
20100805349 15927 G-A tRNA MT-TT    
20050813013 15928 G-A tRNA MT-TT Normal Arabs
20100805350 15928 G-A tRNA MT-TT    
20100805351 15930 G-A tRNA MT-TT    
20100805352 15935 A-G tRNA MT-TT    
20100805353 15938 C-T tRNA MT-TT    
20100805354 15946 C-T tRNA MT-TT    
20100805355 15948 A-G tRNA MT-TT    
20060227001 12207 G-A tRNA MT-TS2 Mixed MELAS/MERRF Chinese mother and Caucasian father
20110704004 12236 G-A tRNA MT-TS2 non-syndromic deafness  
20010301008 12237 C-T noncod MT-TS2 Breast Cancer Caucasian
20100804969 12246 C-T tRNA MT-TS2    
20010303002 12251 A-G noncod MT-TS2 Breast Cancer Caucasian
20070527001 12251 A-G tRNA MT-TS2 Breast Cancer Caucasian
20110302017 12256 G-A tRNA MT-TS2 combined complex I + IV deficiency, Mitochondrial Myopathy  
20100804970 12265 A-G tRNA MT-TS2    
20140214013 7453 G-A tRNA MT-TS1 Melas-like  
20110722001 7455 A-G tRNA MT-TS1 HEARING IMPAIRED ASIAN
20100804503 7468 C-T tRNA MT-TS1    
20111230004 7471 C-T tRNA MT-TS1 non syndromic hearing loss caucasian
20100804504 7476 C-T tRNA MT-TS1    
20100804817 10410 T-A tRNA MT-TR    
20100804818 10410 T-C tRNA MT-TR    
20100804819 10463 T-C tRNA MT-TR    
20100804223 4336 T-C tRNA MT-TQ    
20070612001 4363 T-C tRNA MT-TQ Normal Saudi Arabs
20100804224 4363 T-C tRNA MT-TQ    
20100804225 4388 A-G tRNA MT-TQ    
20081202001 4395 A-G noncod MT-TQ cardiomyopathy Afrique
20100804226 4395 A-G tRNA MT-TQ    
20060605001 16017 T-C tRNA MT-TP Normal Indigenous group-Temuan
20010828011 4418 T-C noncod MT-TM Sporadic Parathyroid Adenoma -
20100804228 4418 T-C tRNA MT-TM    
20100804229 4435 A-G tRNA MT-TM    
20100804230 4454 T-C tRNA MT-TM    
20040713006 12284 C-T tRNA MT-TL2 Oral Cancer Asian
20100804971 12285 T-C tRNA MT-TL2    
20140217009 12297 T-C tRNA MT-TL2 sCJD Han Chinese
20100804972 12308 A-G tRNA MT-TL2    
20140217010 12308 A-G tRNA MT-TL2 sCJD Han Chinese
20140217011 12326 A-G tRNA MT-TL2 sCJD Han Chinese
20030912001 3242 G-A tRNA MT-TL1 Myelodysplastic Syndrome (MDS) Caucasian
20140214021 3242 G-A tRNA MT-TL1 CPEO Caucasian
20140214020 3243 A-G tRNA MT-TL1 Melas  
20140214022 3244 G-A tRNA MT-TL1 CPEO Caucasian
20100804123 3254 C-A tRNA MT-TL1    
20111212002 3298 C-G tRNA MT-TL1 normal Africain
20100804575 8296 A-G tRNA MT-TK    
20040608002 8309 C-T tRNA MT-TK Subfertile Caucasian
20110504002 8312 A-G tRNA MT-TK INFERTILITY Africain
20100804576 8347 A-G tRNA MT-TK    
20100804577 8348 A-G tRNA MT-TK    
20040608003 8350 A-G tRNA MT-TK - Caucasian
20100804219 4291 T-C tRNA MT-TI    
20100804220 4295 A-G tRNA MT-TI    
20110704002 4295 A-G tRNA MT-TI non-syndromic deafness  
20050318001 4310 A-G tRNA MT-TI - Caucasian
20100804221 4310 A-G tRNA MT-TI    
20080117001 4313 T-C noncod MT-TI Deafness Caucasian/Africain
19990721001 4315 A-G noncod MT-TI Psychomotor retardation Caucasian
20100921001 4316 A-G tRNA MT-TI Cardiomyopathy and hearing-loss Caucasian/Africain
20100804222 4317 A-G tRNA MT-TI    
20100804964 12166 T-C tRNA MT-TH    
20100804965 12171 A-G tRNA MT-TH    
20100804966 12172 A-G tRNA MT-TH    
20100804967 12188 T-C tRNA MT-TH    
20100804968 12192 G-A tRNA MT-TH    
20100804768 10005 A-G tRNA MT-TG    
20100804769 10018 A-G tRNA MT-TG    
20050813019 10031 T-C tRNA MT-TG Normal Arabs
20050813006 10034 T-C tRNA MT-TG Normal Arabs
20100804770 10034 T-C tRNA MT-TG    
20000825012 10044 A-G noncod MT-TG Pancreatic Cancer Caucasian
20100804771 10044 A-G tRNA MT-TG    
20090604001 581 A-C noncod MT-TF DIABETES Africain/caucasian
20040720009 593 T-C tRNA MT-TF Breast Cancer Asian
20100804001 596 T-C tRNA MT-TF    
20100804002 629 T-C tRNA MT-TF    
20110302002 634 T-C tRNA MT-TF combined complex I+IV deficiency, epilepsia, muscle hypotonia, mental retardation  
20100804003 648 A-G tRNA MT-TF    
20120119001 650 T-C Noncod MT-TF normal Indonesian
20100804004 669 T-C tRNA MT-TF    
20100805218 14683 A-G tRNA MT-TE    
20100805219 14687 A-G tRNA MT-TE    
20100805220 14693 A-G tRNA MT-TE    
20111212001 14705 G-C tRNA MT-TE Diabetes, Myopathy,Hearing impairment  
20100805221 14706 A-G tRNA MT-TE    
20140127001 14721 G-A tRNA MT-TE isolated complex IV deficiency Causacian
20100805222 14727 T-C tRNA MT-TE    
20050809006 7521 G-T tRNA MT-TD Normal Arabs
20100804505 7521 G-A tRNA MT-TD    
20100804506 7547 T-C tRNA MT-TD    
20100804507 7559 A-G tRNA MT-TD    
20110302023 7570 A-G tRNA MT-TD complex I deficiency  
20110504001 7572 T-C tRNA MT-TD INFERTILITY Africain
20100804360 5773 G-A tRNA MT-TC    
20100804361 5774 T-C tRNA MT-TC    
20100804362 5785 T-C tRNA MT-TC    
20100804363 5788 T-C tRNA MT-TC    
20140218001 5800 A-G tRNA MT-TC Kallmann Syndrome Han Chinese
20100804364 5802 T-C tRNA MT-TC    
20100804365 5814 T-C tRNA MT-TC    
20100804366 5817 C-T tRNA MT-TC    
20100804367 5821 G-A tRNA MT-TC    
20100804368 5823 A-G tRNA MT-TC    
20100804354 5592 A-G tRNA MT-TA    
20070724008 5618 T-G tRNA MT-TA Leigh Syndrome Caucasian/Africain
20100804355 5628 T-C tRNA MT-TA    
20100804356 5633 C-T tRNA MT-TA    
19990316019 5655 T-C noncod MT-TA - -
20100804357 5655 T-C tRNA MT-TA    
20100804043 1676 A-G rRNA MT-RNR2    
20110302006 1692 A-T rRNA MT-RNR2 combined complex I + IV deficiency  
20010828004 1700 T-C noncod MT-RNR2 Sporadic Parathyroid Adenoma -
20041220011 1700 T-C rRNA MT-RNR2 Oral Cancer Asian Indian
20100804044 1700 T-C rRNA MT-RNR2    
20010301006 1703 C-T noncod MT-RNR2 Breast Cancer Caucasian
20060130005 1703 C-T rRNA MT-RNR2 Mental Retardation Caucasian
20100804045 1709 G-A rRNA MT-RNR2    
20100804046 1711 C-T rRNA MT-RNR2    
20041220007 1713 C-T rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220008 1713 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220009 1715 C-T rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220005 1719 G-A rRNA MT-RNR2 Oral Cancer Asian Indian-Muslim
20100804047 1719 G-A rRNA MT-RNR2    
20100804048 1720 C-T rRNA MT-RNR2    
20050919007 1721 C-T rRNA MT-RNR2 Normal Arabs
20100804049 1721 C-T rRNA MT-RNR2    
20100804050 1738 T-C rRNA MT-RNR2    
20110302022 1767 G-A rRNA MT-RNR2 complex I deficiency  
20041220002 1780 T-C rRNA MT-RNR2 Oral Cancer Asian Indian
20100804051 1806 T-C rRNA MT-RNR2    
20041220004 1811 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Muslim
20041220013 1811 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Gujarati
20050919008 1811 A-G rRNA MT-RNR2 Normal Arabs
20100804052 1811 A-G rRNA MT-RNR2    
20100804053 1812 C-G rRNA MT-RNR2    
20100804054 1813 C-G rRNA MT-RNR2    
20100804055 1824 T-C rRNA MT-RNR2    
20100804056 1834 T-C rRNA MT-RNR2    
20050919009 1837 C-A rRNA MT-RNR2 Normal Arabs
20100804057 1842 A-G rRNA MT-RNR2    
20070207001 1843 T-C rRNA MT-RNR2 Centenarian Caucasian
20050919010 1845 C-A rRNA MT-RNR2 Normal Arabs
20100804058 1850 T-C rRNA MT-RNR2    
20110302018 1886 G-A rRNA MT-RNR2 combined complex I + IV deficiency, Mitochondrial Myopathy  
20100804059 1888 G-A rRNA MT-RNR2    
20100804060 1900 A-G rRNA MT-RNR2    
20070207002 1940 A-G rRNA MT-RNR2 Centenarian Caucasian
20110302007 1943 A-G rRNA MT-RNR2 complex I deficiency  
20100804061 1977 T-C rRNA MT-RNR2    
20110503004 1978 A-C rRNA MT-RNR2 Congenital Non-syndromic Deafness  
20100804062 2060 A-C rRNA MT-RNR2    
20100804063 2060 A-G rRNA MT-RNR2    
20100804064 2098 G-A rRNA MT-RNR2    
20100804065 2141 T-C rRNA MT-RNR2    
20100804066 2158 T-C rRNA MT-RNR2    
20100804067 2217 C-T rRNA MT-RNR2    
20010828005 2218 C-T noncod MT-RNR2 Sporadic Parathyroid Adenoma -
20100804068 2225 C-T rRNA MT-RNR2    
20110302019 2239 A-G rRNA MT-RNR2 combined complex I + IV deficiency  
20100804069 2245 A-G rRNA MT-RNR2    
20100804070 2246 A-G rRNA MT-RNR2    
20100804071 2251 A-G rRNA MT-RNR2    
20100804072 2259 C-T rRNA MT-RNR2    
20100804073 2264 A-G rRNA MT-RNR2    
20100804074 2272 C-T rRNA MT-RNR2    
20100804075 2280 C-T rRNA MT-RNR2    
20100804076 2282 C-T rRNA MT-RNR2    
20100804077 2283 C-T rRNA MT-RNR2    
20100804078 2294 A-G rRNA MT-RNR2    
20110302008 2294 A-G rRNA MT-RNR2 combined complex I + IV deficiency  
20100804079 2308 A-G rRNA MT-RNR2    
20100804080 2352 T-C rRNA MT-RNR2    
20050919011 2355 A-G rRNA MT-RNR2 Normal Arabs
20110302009 2358 A-G rRNA MT-RNR2 complex I deficiency  
20041220014 2361 G-A rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20100804081 2361 G-A rRNA MT-RNR2    
20100804082 2387 T-C rRNA MT-RNR2    
20100804083 2395 A-C rRNA MT-RNR2    
20100804084 2395 A-G rRNA MT-RNR2    
20041220016 2396 C-T rRNA MT-RNR2 Oral Cancer Asian Indian
20100804085 2416 T-C rRNA MT-RNR2    
20100804086 2417 C-G rRNA MT-RNR2    
20140729007 2435 G-T rRNA MT-RNR2 CAD+T2DM Asian Indian
20050919012 2442 T-C rRNA MT-RNR2 Normal Arabs
20100804087 2442 T-C rRNA MT-RNR2    
20050919013 2451 A-C rRNA MT-RNR2 Normal Arabs
20100804088 2483 T-C rRNA MT-RNR2    
20050919014 2505 A-C rRNA MT-RNR2 Normal Arabs
20140630001 2523 C-T rRNA MT-RNR2 Temporal lobe epilepsy with hippocampal sclerosis  
20100804089 2581 A-G rRNA MT-RNR2    
20100804090 2607 T-A rRNA MT-RNR2    
20070207003 2623 A-G rRNA MT-RNR2 Centenarian Caucasian
20041220003 2644 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20100804091 2702 G-A rRNA MT-RNR2    
20041220001 2706 A-G rRNA MT-RNR2 Oral Cancer Asian Indian - Gujarati
20050919015 2706 A-G rRNA MT-RNR2 Normal Arabs
20100804092 2706 A-G rRNA MT-RNR2    
20100804093 2707 A-G rRNA MT-RNR2    
20041220006 2715 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Gujarati
20100804094 2755 A-G rRNA MT-RNR2    
20110302010 2755 A-G rRNA MT-RNR2 complex I deficiency  
20100804095 2757 A-G rRNA MT-RNR2    
20100804096 2758 G-A rRNA MT-RNR2    
20100804097 2768 A-G rRNA MT-RNR2    
20100804098 2772 C-T rRNA MT-RNR2    
20100804099 2775 A-G rRNA MT-RNR2    
20100804100 2789 C-T rRNA MT-RNR2    
20100804101 2792 A-G rRNA MT-RNR2    
20100804102 2831 G-A rRNA MT-RNR2    
20100804103 2833 A-G rRNA MT-RNR2    
20100804104 2838 A-C rRNA MT-RNR2    
20100804105 2850 T-C rRNA MT-RNR2    
20100804106 2873 A-G rRNA MT-RNR2    
20100804107 2885 T-C rRNA MT-RNR2    
20100804108 2955 T-C rRNA MT-RNR2    
20100804109 3010 G-A rRNA MT-RNR2    
20100804110 3027 T-C rRNA MT-RNR2    
20100804111 3083 T-C rRNA MT-RNR2    
20100804112 3105 A-G rRNA MT-RNR2    
19990316007 3116 C-T noncod MT-RNR2 - -
20041220015 3116 C-T rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20100804113 3116 C-T rRNA MT-RNR2    
20010828006 3160 A-T noncod MT-RNR2 Sporadic Parathyroid Adenoma -
20100804114 3173 G-A rRNA MT-RNR2    
19990316008 3184 C-T noncod MT-RNR2 - -
19990308003 3197 T-C noncod MT-RNR2 Encephalopathy Cardiomyopathy Mennonite
20041220012 3197 T-C rRNA MT-RNR2 Oral Cancer Asian Indian
20100804115 3197 T-C rRNA MT-RNR2    
20110314001 3197 T-C rRNA MT-RNR2 LHON Caucasion
20100804116 3202 T-C rRNA MT-RNR2    
20100804117 3203 A-C rRNA MT-RNR2    
20100804118 3204 C-G rRNA MT-RNR2    
20100804119 3204 C-T rRNA MT-RNR2    
20021231003 3206 C-T noncod MT-RNR2 MELAS Caucasian
20100804120 3207 A-C rRNA MT-RNR2    
20100804121 3212 C-T rRNA MT-RNR2    
20111230003 3213 A-G rRNA MT-RNR2 non-syndromic hearing loss  
20041220017 3220 A-G rRNA MT-RNR2 Oral Cancer Asian Indian
20051007006 3221 A-G rRNA MT-RNR2 - Caucasian
20100804122 3221 A-G rRNA MT-RNR2    
20071219001 689 T-C rRNA MT-RNR1 Normal Caucasian
20100804005 709 G-A rRNA MT-RNR1    
19990316006 711 T-C noncod MT-RNR1 - -
20111230001 712 C-A rRNA MT-RNR1 non-syndromic hearing impairment Caucasian
20110302003 719 G-A rRNA MT-RNR1 combined complex I + IV deficiency  
20110503001 720 T-C rRNA MT-RNR1 Congenital Non-syndromic Deafness  
20050919001 722 C-G rRNA MT-RNR1 Normal Arabs
20050919002 723 A-G rRNA MT-RNR1 Normal Arabs
20050308004 735 A-G rRNA MT-RNR1 Deafness Africain
20110302004 739 C-T rRNA MT-RNR1 combined complex I+IV defiency  
20050308003 742 T-C rRNA MT-RNR1 Normal Africain
20100804006 745 A-G rRNA MT-RNR1    
20100804007 747 A-G rRNA MT-RNR1    
20100804008 750 A-G rRNA MT-RNR1    
20071219002 751 A-G rRNA MT-RNR1 Normal Caucasian
20100804009 751 A-C rRNA MT-RNR1    
20100804010 751 A-G rRNA MT-RNR1    
20100804011 769 G-A rRNA MT-RNR1    
20140721003 780 G-A rRNA MT-RNR1 Normal African
20111230002 786 G-A rRNA MT-RNR1 progressive non syndromic hearing loss Caucasian
20050308005 794 T-A rRNA MT-RNR1 Deafness Africain
20050313001 813 A-G rRNA MT-RNR1 Deafness Africain
20100804012 813 A-G rRNA MT-RNR1    
20100804013 825 T-A rRNA MT-RNR1    
20050919003 827 A-G rRNA MT-RNR1 Normal Arabs
20100804014 827 A-G rRNA MT-RNR1    
20050308002 868 C-T rRNA MT-RNR1 Normal Africain
20100804015 896 A-G rRNA MT-RNR1    
20081112001 930 G-C noncod MT-RNR1 Normal Yakut
20100804016 930 G-A rRNA MT-RNR1    
20100804017 951 G-A rRNA MT-RNR1    
20100804018 953 T-C rRNA MT-RNR1    
20050308001 954 C-T rRNA MT-RNR1 Normal Africain
20100804019 957 C-G rRNA MT-RNR1    
20110503002 960 C-A rRNA MT-RNR1 Congenital Non-syndromic Deafness  
20060913001 961 T-A rRNA MT-RNR1 Deafness Russian
20100804020 961 T-C rRNA MT-RNR1    
20100804021 961 T-G rRNA MT-RNR1    
20100804022 962 C-G rRNA MT-RNR1    
20100804023 980 T-C rRNA MT-RNR1    
20010828003 1007 G-A noncod MT-RNR1 Sporadic Parathyroid Adenoma -
20100804024 1007 G-A rRNA MT-RNR1    
20100804025 1008 A-G rRNA MT-RNR1    
20110302005 1009 C-T rRNA MT-RNR1 combined complex I + IV defiency  
20110302015 1011 C-A rRNA MT-RNR1 combined complex I + IV deficiency  
20050919004 1018 G-A rRNA MT-RNR1 Normal Arabs
20100804026 1018 G-A rRNA MT-RNR1    
20070709001 1027 A-G rRNA MT-RNR1 Control Altaian
20100804027 1053 A-G rRNA MT-RNR1    
20100804028 1119 T-C rRNA MT-RNR1    
20050919005 1189 T-C rRNA MT-RNR1 Normal Arabs
20100804029 1189 T-C rRNA MT-RNR1    
20100804030 1193 T-C rRNA MT-RNR1    
20100804031 1243 T-C rRNA MT-RNR1    
20050919006 1245 T-G rRNA MT-RNR1 Normal Arabs
20100804032 1284 T-C rRNA MT-RNR1    
20110302016 1386 T-C rRNA MT-RNR1 combined complex I + IV deficiency  
20100804033 1391 T-C rRNA MT-RNR1    
20100804034 1406 T-C rRNA MT-RNR1    
20101129003 1406 T-C rRNA MT-RNR1 Nonsyndromic Hearing Loss Turkish
20100804035 1435 A-T rRNA MT-RNR1    
20100804036 1438 A-G rRNA MT-RNR1    
20081105001 1453 A-G noncod MT-RNR1 Non-Syndromic Hearing Impairment (NSHI) Hindu
20091029001 1453 A-G noncod MT-RNR1 Hearing loss Caucasian
19990308002 1462 G-A noncod MT-RNR1 Diabetes/Deafness -
20081106001 1462 G-A noncod MT-RNR1 Non-Syndromic Hearing Impairment (NSHI) Hindu
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    
20081106002 1508 C-T noncod MT-RNR1 Non-Syndromic Hearing Impairment (NSHI) Hindu
20100804039 1530 A-G rRNA MT-RNR1    
20100804040 1537 C-T rRNA MT-RNR1    
20071219004 1556 C-T rRNA MT-RNR1 Normal Caucasian
20101129001 1556 C-T rRNA MT-RNR1 Nonsyndromic Hearing Loss Turkish
20070709002 1557 A-C rRNA MT-RNR1 Deafness Russian
20140729004 1597 C-A rRNA MT-RNR1 CAD+T2DM Asian Indian
20100804041 1598 G-A rRNA MT-RNR1    
20110302011 5743 C-del non-coding MT-OLR combined complex I + IV deficiency  
20110801007 5743 C-G non-coding MT-OLR Hearing Impairment ASIAN
20100804359 5746 G-A non-coding MT-OLR    
20110302012 5747 A-G non-coding MT-OLR combined complex I + IV deficiency  
20100805161 14167 C-T syn MT-ND6    
19990316048 14169 C-T E-N MT-ND6 - -
19990316049 14178 T-C I-V MT-ND6 - -
20100805162 14178 T-C I-V MT-ND6    
20070327012 14179 A-G syn MT-ND6 Leigh Syndrome Arabs
20100805163 14179 A-G syn MT-ND6    
20100805164 14180 T-C Y-C MT-ND6    
20100805165 14182 T-C syn MT-ND6    
20100805166 14199 T-C T-A MT-ND6    
19990316050 14203 A-G syn MT-ND6 - -
20100805167 14203 A-G 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    
20100805169 14212 T-C syn MT-ND6    
20100805170 14215 T-C syn MT-ND6    
20100805171 14220 A-G syn MT-ND6    
20100805172 14233 A-G syn MT-ND6    
20100805173 14245 C-A syn MT-ND6    
20040803003 14249 G-A A-V MT-ND6 LHON -
20100805174 14249 G-A A-V MT-ND6    
20100805175 14258 G-A P-L MT-ND6    
20110314002 14258 G-A P-L MT-ND6 LHON Caucasion
20100805176 14272 C-T syn MT-ND6    
20100805177 14274 A-G syn MT-ND6    
20100805178 14275 C-T syn MT-ND6    
20100805179 14278 T-C syn MT-ND6    
20050919025 14281 C-A syn MT-ND6 Normal Arabs
20040803002 14284 C-T syn MT-ND6 LHON -
20100805180 14296 A-G syn MT-ND6    
20100805181 14305 G-A syn MT-ND6    
20100805182 14323 G-A syn MT-ND6    
20100805183 14325 T-C N-D MT-ND6    
20120618012 14353 T-C SYN MT-ND6 LHON Iranian
20100805184 14359 C-T syn MT-ND6    
20010828038 14364 G-A syn MT-ND6 Sporadic Parathyroid Adenoma -
20100805185 14364 G-A syn MT-ND6    
20100805186 14365 C-T syn MT-ND6    
20100805187 14370 A-G syn MT-ND6    
20100805188 14371 T-C syn MT-ND6    
20010424008 14386 T-C syn MT-ND6 Sporadic Parathyroid Adenoma -
20100805189 14386 T-C syn MT-ND6    
20030918006 14388 A-G syn MT-ND6 Liver Cancer Asian
20100805190 14388 A-G syn MT-ND6    
20100805191 14410 G-A syn MT-ND6    
20100805192 14419 C-A syn MT-ND6    
20100805193 14419 C-T syn MT-ND6    
20100805194 14431 T-C syn MT-ND6    
20140217014 14457 T-C M-V MT-ND6 sCJD Han Chinese
20141101003 14458 C-G syn MT-ND6 Diabetes ,Myopathy  
19990324002 14470 T-C syn MT-ND6 MELAS(3243) Caucasian
20100805195 14470 T-C syn MT-ND6    
20100805196 14470 T-A syn MT-ND6    
20100805197 14484 T-C M-V MT-ND6    
20100805198 14494 T-C syn MT-ND6    
20100805199 14497 A-G syn MT-ND6    
20100805200 14498 T-C Y-C MT-ND6    
20100805201 14502 T-C I-V MT-ND6    
20100805202 14515 T-C syn MT-ND6    
20100805203 14518 A-G syn MT-ND6    
20100805204 14528 C-A G-V MT-ND6    
20100805205 14530 T-C syn MT-ND6    
20060130001 14552 A-G V-A MT-ND6 Leucodystrophy Caucasian
20100805206 14560 G-A syn MT-ND6    
20100805207 14566 A-G syn MT-ND6    
20100805208 14569 G-A syn MT-ND6    
20100805209 14574 C-T V-I MT-ND6    
20100805210 14577 T-C I-V MT-ND6    
20000825013 14582 A-G V-A MT-ND6 Pancreatic Cancer Caucasian
20100805211 14582 A-G V-A MT-ND6    
20100805212 14587 A-G syn MT-ND6    
20100805213 14593 A-G syn MT-ND6    
20100805214 14605 A-T syn MT-ND6    
20100805215 14620 C-T syn MT-ND6    
20100805216 14627 A-G F-S MT-ND6    
20100805217 14632 C-T syn MT-ND6    
20040803001 14634 T-C M-V MT-ND6 LHON -
20040210018 14662 A-G syn MT-ND6 NAION Arabs
20100804973 12342 C-G syn MT-ND5    
20100804974 12346 C-T H-Y MT-ND5    
20141116001 12350 C-A T 5 N MT-ND5 hearing loss + psychomotor delay Causasian / Africain
20100804975 12354 T-C syn MT-ND5    
20100804976 12358 A-G T-A MT-ND5    
20100804977 12362 C-T T-I MT-ND5    
20100804978 12366 A-G syn 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
20100804980 12373 A-G T-A MT-ND5    
20100804981 12376 T-G S-A MT-ND5    
20100804982 12378 C-T syn MT-ND5    
20100804983 12396 T-C syn MT-ND5    
20091229021 12400 A-G T-A MT-ND5 Breast Cancer Africain
20100804984 12403 C-T L-F MT-ND5    
20100804985 12406 G-A V-I MT-ND5    
20100804986 12414 T-C syn MT-ND5    
20100804987 12432 C-T syn MT-ND5    
20140731004 12437 A-C H-P MT-ND5 CAD+T2DM Asian Indian
20040720012 12438 T-C syn MT-ND5 Breast Cancer Asian
20100804988 12441 T-C syn MT-ND5    
20140217012 12473 T-C I-T MT-ND5 sCJD Han Chinese
20110801001 12474 C-T syn MT-ND5 HEARING IMPAIRED and NORMAL ASIAN
20100804989 12477 T-C syn MT-ND5    
20100804990 12490 A-G T-A MT-ND5    
20100804991 12492 A-T syn MT-ND5    
20100804992 12501 G-A syn MT-ND5    
20100804993 12519 T-C syn MT-ND5    
20100804994 12530 A-G N-S MT-ND5    
20091229022 12542 C-T A-V MT-ND5 Breast Cancer Africain
20100804995 12546 A-T syn MT-ND5    
20100804996 12549 C-T syn MT-ND5    
20050803001 12557 C-T T-I MT-ND5 Encephalomyopathy Caucasian
20100804997 12557 C-T T-I MT-ND5    
20100804998 12561 G-A syn MT-ND5    
19990906001 12573 C-T syn MT-ND5 - -
20140731005 12578 A-C K-T MT-ND5 CAD+T2DM Asian Indian
20140731006 12581 T-C L-P MT-ND5 CAD+T2DM Asian Indian
20100212001 12588 C-T syn MT-ND5 sensorineural hearing loss Caucasian
20100804999 12588 C-T syn MT-ND5    
20100805001 12599 T-C M-T MT-ND5    
20070327010 12609 T-C syn MT-ND5 Leigh Syndrome Arabs
20140731007 12611 T-C V-A MT-ND5 CAD+T2DM Asian Indian
20100805002 12612 A-G syn MT-ND5    
20100805003 12616 T-C syn MT-ND5    
20100805004 12618 G-A syn MT-ND5    
20051007001 12621 C-A F-L MT-ND5 Encephalopathy Caucasian
20061011001 12622 G-A V-I MT-ND5 Leigh Syndrome Caucasian
20040720013 12630 G-A syn MT-ND5 Breast Cancer Asian
20140217013 12631 T-C S-P MT-ND5 sCJD Han Chinese
20100805005 12633 C-A syn MT-ND5    
20100805006 12634 A-G I-V MT-ND5    
20100805007 12642 A-G syn MT-ND5    
20100805008 12651 G-A syn MT-ND5    
20100805009 12662 A-G N-S MT-ND5    
20100805010 12678 T-C syn MT-ND5    
20100805011 12681 T-C syn MT-ND5    
20100805012 12684 G-A syn MT-ND5    
20100805013 12693 A-G syn MT-ND5    
20100805014 12696 T-C syn MT-ND5    
20100805015 12698 T-G L-R MT-ND5    
20080520004 12705 C-T syn MT-ND5 Ophthalmoparesis, single eye ptosis Asian
20100805016 12705 C-T syn MT-ND5    
20100805017 12706 T-A F-I MT-ND5    
20070327011 12714 T-C syn MT-ND5 Leigh Syndrome Arabs
20100805018 12714 T-C syn MT-ND5    
20110503027 12721 C-T syn MT-ND5 Congenital Non-syndromic Deafness  
20100805019 12723 A-G syn MT-ND5    
20100805020 12727 T-C syn MT-ND5    
20100805021 12732 T-C syn MT-ND5    
20100805022 12738 T-G syn MT-ND5    
20100805023 12768 A-G syn MT-ND5    
20100805024 12768 A-T W-C MT-ND5    
20100805025 12771 G-A syn MT-ND5    
20100805026 12810 A-G syn MT-ND5    
20100805027 12811 T-C Y-H MT-ND5    
20010822001 12813 C-T syn MT-ND5 Myopathy, Tremor Caucasian
20100805028 12813 C-T syn MT-ND5    
20040210015 12822 A-G syn MT-ND5 NAION Arabs
20070612007 12841 A-G I-V MT-ND5 Normal Saudi Arabs
20120618001 12851 T-A V-I MT-ND5 LHON Iranian
20100805029 12858 C-T syn MT-ND5    
20100805030 12876 C-T syn MT-ND5    
20010828030 12879 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20100805031 12879 T-C syn MT-ND5    
20100805032 12930 A-G syn MT-ND5    
20100805033 12937 A-G M-V MT-ND5    
20100805034 12950 A-C N-T MT-ND5    
20100805035 12950 A-G N-S MT-ND5    
20010828031 12954 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20100805036 12954 T-C syn MT-ND5    
20040713016 12957 T-C syn MT-ND5 Esophageal Cancer Asian
20100805037 12957 T-C syn MT-ND5    
20100805038 12969 C-G syn MT-ND5    
20100805039 12987 C-T syn MT-ND5    
20110801013 13005 A-G syn MT-ND5 NORMAL ASIAN
20100805040 13015 T-C syn MT-ND5    
20100805041 13017 A-G syn MT-ND5    
20021231002 13020 T-C syn MT-ND5 Myopathy, Diabetes, CPEO, Deafness Caucasian
20100805042 13020 T-C syn MT-ND5    
20100805043 13032 A-G syn MT-ND5    
20100805044 13035 C-A syn MT-ND5    
20100805045 13042 G-T A-S MT-ND5    
20110105001 13077 C-T Leu247Leu MT-ND5 NSHL Caucasian
20100805046 13101 A-C syn MT-ND5    
20100805047 13104 A-G syn MT-ND5    
20100805048 13105 A-G I-V MT-ND5    
20100805049 13111 T-C syn MT-ND5    
20100805050 13117 A-G I-V MT-ND5    
20100805051 13135 G-A A-T MT-ND5    
20100805052 13145 G-A S-N MT-ND5    
20100805053 13146 C-T syn MT-ND5    
20100805054 13147 C-T P-S MT-ND5    
20040210016 13188 C-T syn MT-ND5 NAION Arabs
20100805055 13212 C-T syn MT-ND5    
20100805056 13215 T-C syn MT-ND5    
20100805057 13225 G-A D-N MT-ND5    
20010927001 13239 C-T syn MT-ND5 Mental Retardation Italian
20120618017 13255 T-A S-T MT-ND5 LHON Iranian
20100805058 13263 A-G syn MT-ND5    
20100805059 13281 T-C syn MT-ND5    
20100805060 13293 C-T syn MT-ND5    
20100805061 13326 T-C syn MT-ND5    
20100805062 13356 T-C syn MT-ND5    
20100805063 13359 G-A syn MT-ND5    
20100805064 13368 G-A syn MT-ND5    
20010828032 13392 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20010828033 13392 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20100805065 13392 T-C syn MT-ND5    
20100805066 13401 T-C syn MT-ND5    
20100805067 13404 T-C syn MT-ND5    
20010828034 13422 A-G syn MT-ND5 Sporadic Parathyroid Adenoma -
20100805068 13434 A-G syn MT-ND5    
20100805069 13437 T-C syn MT-ND5    
20100805070 13466 G-C S-T MT-ND5    
20090910001 13468 C-A L-M MT-ND5 Aminoglycoside-induced hearing loss Caucasian
20100805071 13468 C-A L-M MT-ND5    
20100805072 13470 A-G syn MT-ND5    
20080811002 13474 T-C syn MT-ND5 Leigh Syndrome Caucasian, Jew
20110801010 13476 A-G syn MT-ND5 NORMAL ASIAN
20100805073 13477 G-A A-T MT-ND5    
20100805074 13479 A-G syn MT-ND5    
20100805075 13485 A-G syn MT-ND5    
20040317008 13500 T-C syn MT-ND5 Normal Saudi Arab
20100805076 13500 T-C syn MT-ND5    
20100805077 13506 C-T syn MT-ND5    
20061011002 13511 A-T K-M MT-ND5 Leigh Syndrome Caucasian
20140214017 13513 G-A D-N (Asp393Asn) MT-ND5 Leigh syndrome  
20100805078 13528 A-G T-A MT-ND5    
20100805079 13535 A-G N-S MT-ND5    
20041212001 13539 A-G syn MT-ND5 LHON Arabs
20100805080 13545 C-T syn MT-ND5    
20100805081 13557 A-G syn MT-ND5    
20100805082 13565 C-T S-F MT-ND5    
20100805083 13569 T-C syn MT-ND5    
20010424007 13577 T-C I-T MT-ND5 Sporadic Parathyroid Adenoma -
20100805084 13587 C-T syn MT-ND5    
20100805085 13590 G-A syn MT-ND5    
20100805086 13608 T-C syn MT-ND5    
20050919024 13617 T-C syn MT-ND5 Normal Arabs
20100805087 13617 T-C syn MT-ND5    
20100805088 13620 T-C syn MT-ND5    
20100805089 13623 C-T syn MT-ND5    
20100805090 13630 A-G T-A MT-ND5    
20100805091 13632 A-G syn MT-ND5    
20050919037 13637 A-G Q-R MT-ND5 Normal Arabs
20100805092 13637 A-G Q-R MT-ND5    
20100805093 13650 C-T syn MT-ND5    
20100805094 13651 A-G T-A MT-ND5    
20100805095 13656 T-C syn MT-ND5    
20110801014 13659 T-C syn MT-ND5 NORMAL ASIAN
20100805096 13661 A-G N-S MT-ND5    
20120618014 13663 A-G I-V MT-ND5 LHON Iranian
20100805097 13665 T-C syn MT-ND5    
20040317013 13680 C-T syn MT-ND5 Normal Saudi Arab
20100805098 13680 C-T syn MT-ND5    
20100805099 13681 A-G T-A MT-ND5    
20100805100 13695 C-T syn MT-ND5    
20100805101 13705 C-T syn MT-ND5    
20100805102 13707 G-A syn MT-ND5    
20010828035 13708 G-A A-T MT-ND5 Sporadic Parathyroid Adenoma -
20050813021 13708 G-A A-T MT-ND5 Normal Arabs
20100805103 13708 G-A A-T MT-ND5    
20100805104 13722 A-G syn MT-ND5    
20100805105 13731 A-G syn MT-ND5    
20100805106 13734 T-C syn MT-ND5    
20100805107 13740 T-C syn MT-ND5    
20010828036 13743 T-C syn MT-ND5 Sporadic Parathyroid Adenoma -
20100805108 13743 T-C syn MT-ND5    
20040317014 13752 T-C syn MT-ND5 Normal Saudi Arab
20100805109 13759 G-A A-T MT-ND5    
20100805110 13762 T-G S-A MT-ND5    
20100805111 13765 C-T P-S MT-ND5    
20100805112 13766 C-T P-L 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    
20100805114 13782 C-A I-M MT-ND5    
20100805115 13785 C-T syn MT-ND5    
19990316043 13789 T-C T-H MT-ND5 - -
20100805116 13789 T-C Y-H MT-ND5    
20100805117 13803 A-G syn MT-ND5    
20040912004 13811 C-G A-G MT-ND5 Normal Arabs
20070612008 13813 G-A V-I MT-ND5 Normal Saudi Arabs
20040912005 13817 C-T T-I MT-ND5 Normal Arabs
20100805118 13827 A-G syn MT-ND5    
20100805119 13830 T-C syn MT-ND5    
20100805120 13879 T-C S-P MT-ND5    
19990316044 13880 C-A S-Y MT-ND5 - -
20100805121 13880 C-A S-Y MT-ND5    
20100805122 13884 A-G syn MT-ND5    
20100805123 13889 G-A C-Y MT-ND5    
20100805124 13899 T-C syn MT-ND5    
20100805125 13911 A-G syn MT-ND5    
20100805126 13928 G-A S-N MT-ND5    
20100805127 13928 G-C S-T MT-ND5    
20100805128 13933 A-G T-A MT-ND5    
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
20000825001 13943 C-T M-V MT-ND5 Pancreatic Cancer Caucasian
20100805130 13947 C-T syn MT-ND5    
20100805131 13948 C-T P-S MT-ND5    
20100805132 13953 T-C syn MT-ND5    
20100805133 13954 C-T syn MT-ND5    
20100805134 13965 T-C syn MT-ND5    
20100805135 13966 A-G T-A MT-ND5    
20100805136 13967 C-T T-M MT-ND5    
20100805137 13973 A-T Q-L MT-ND5    
20100805138 13977 C-T syn MT-ND5    
20100805139 13980 G-A syn MT-ND5    
20100805140 14000 T-A L-Q MT-ND5    
20100805141 14002 A-G T-A MT-ND5    
19990316045 14007 A-G syn MT-ND5 - -
20100805142 14013 A-G syn MT-ND5    
20100805143 14016 G-A syn MT-ND5    
20100805144 14020 T-C syn MT-ND5    
20120618010 14020 A-G SYN MT-ND5 LHON Iranian
19990316046 14037 A-G syn MT-ND5 - -
20100805145 14037 A-G syn MT-ND5    
20100805146 14040 G-A syn MT-ND5    
20100805147 14055 C-T syn MT-ND5    
20040317007 14058 C-T syn MT-ND5 Normal Saudi Arab
20100805148 14058 C-T syn MT-ND5    
20140217019 14067 C-T T-T MT-ND5 sCJD Han Chinese
20010828037 14070 A-G syn MT-ND5 Sporadic Parathyroid Adenoma -
20100805149 14070 A-G syn MT-ND5    
20100805150 14071 A-G T-A MT-ND5    
20100805151 14079 A-G syn MT-ND5    
20040210017 14094 T-C syn MT-ND5 NAION Arabs
20100805152 14097 C-T syn MT-ND5    
20100805153 14106 T-C syn MT-ND5    
20100805154 14110 T-C F-L MT-ND5    
20100805155 14118 A-G syn MT-ND5    
20100805156 14125 C-T syn MT-ND5    
20100805157 14133 A-G syn MT-ND5    
20100805158 14137 C-T syn MT-ND5    
20100805159 14139 A-G syn MT-ND5    
19990316047 14142 C-T syn MT-ND5 - -
20100805160 14148 A-G Ter-Ter MT-ND5    
20100804820 10487 A-T M-I MT-ND4L    
20100804821 10493 T-C syn MT-ND4L    
20100804822 10499 A-G syn MT-ND4L    
20100804823 10506 A-G T-A MT-ND4L    
20010424004 10522 G-A G-E MT-ND4L Sporadic Parathyroid Adenoma -
20100804824 10550 A-G syn MT-ND4L    
20100804825 10551 T-G S-A MT-ND4L    
20120618007 10557 C-A L-I MT-ND4L LHON Iranian
20100804826 10559 A-G syn MT-ND4L    
20110801004 10577 A-G syn MT-ND4L NORMAL ASIAN
20100804827 10586 G-A syn MT-ND4L    
20100804828 10589 G-A syn MT-ND4L    
20140731003 10592 C-T syn MT-ND4L CAD Asian Indian
20100804829 10595 T-C syn MT-ND4L    
20100804830 10598 A-G syn MT-ND4L    
20100804831 10601 T-C syn MT-ND4L    
20100804832 10607 C-T syn MT-ND4L    
20100804833 10609 T-C M-T MT-ND4L    
20100804834 10619 C-T syn MT-ND4L    
20100804835 10628 C-T syn MT-ND4L    
20100804836 10646 G-A syn MT-ND4L    
20091228001 10649 T-C syn MT-ND4L NSHL Caucasian
20100804837 10649 T-C syn MT-ND4L    
20100804838 10658 A-G syn MT-ND4L    
20100804839 10664 C-A syn MT-ND4L    
20001017010 10667 T-C syn MT-ND4L Lung Cancer African/American
20050809016 10668 G-A A-T MT-ND4L Normal Arabs
20140730007 10668 G-A A-T MT-ND4L CAD+T2DM Asian Indian
20100804840 10670 C-T syn MT-ND4L    
20081022001 10680 G-A A-T MT-ND4L LHON Han Chinese
20100804841 10680 G-A A-T MT-ND4L    
20100804842 10685 G-A syn MT-ND4L    
20001017003 10688 G-A syn MT-ND4L Lung Cancer African/American
20100804843 10688 G-A syn MT-ND4L    
20010303007 10707 T-G S-A MT-ND4L Breast Cancer Caucasian
20100804844 10709 A-C syn MT-ND4L    
20100804845 10733 C-T syn MT-ND4L    
20100804846 10750 A-G N-S MT-ND4L    
20110503024 10751 C-A N-K MT-ND4L Congenital Non-syndromic Deafness  
20010828027 10754 A-C syn MT-ND4L Sporadic Parathyroid Adenoma -
20100804847 10754 A-C syn MT-ND4L    
20100804848 10754 A-G syn MT-ND4L    
20100804849 10768 A-G syn MT-ND4    
20010828028 10775 A-G V-I MT-ND4 Sporadic Parathyroid Adenoma -
20100804850 10790 T-C syn MT-ND4    
20100804851 10807 A-G syn MT-ND4    
20001017002 10810 T-C syn MT-ND4 Lung Cancer African/American
20100804852 10810 T-C syn MT-ND4    
20040209024 10811 T-C S-P MT-ND4 Oral Cancer SINDHI
20040209025 10812 C-T S-F MT-ND4 Oral Cancer SINDHI
20040209026 10814 A-C K-Q MT-ND4 Oral Cancer SINDHI
20001017009 10816 A-G syn MT-ND4 Lung Cancer African/American
20091229017 10816 A-G syn MT-ND4 Breast Cancer Africain
20040209001 10817 A-T K-Term MT-ND4 Oral Cancer GUJARATI
20100804853 10819 A-G syn MT-ND4    
20100804854 10822 C-T syn MT-ND4    
20040209044 10823 A-G M-V MT-ND4 Normal MARATHI
20100804855 10825 A-G syn MT-ND4    
20040209011 10826 A-G I-V MT-ND4 Oral Cancer MARATHI
20091229018 10837 C-T syn MT-ND4 Breast Cancer Africain
20040209028 10845 C-T T-I MT-ND4 Oral Cancer SINDHI
20100804856 10845 C-T T-I MT-ND4    
20040209014 10850 A-C S-R MT-ND4 Oral Cancer MARATHI
20100804857 10861 T-C syn MT-ND4    
20140214009 10866 T-C I-T (Ile36Thr) MT-ND4 myasthenia gravis Caucasian
19990316035 10873 T-C syn MT-ND4 - -
20040209002 10873 T-C syn MT-ND4 Oral Cancer Asian Indian
20100804858 10873 T-C syn MT-ND4    
19990316036 10876 A-G syn MT-ND4 - -
20100804859 10876 A-G syn MT-ND4    
20100804860 10882 T-C syn MT-ND4    
20050813008 10883 T-A F-I MT-ND4 Normal Arabs
20050813009 10885 T-A F-L MT-ND4 Normal Arabs
20100804861 10885 T-C syn MT-ND4    
20140730008 10888 C-A N-K MT-ND4 CAD+T2DM Asian Indian
20100804862 10895 A-G N-D MT-ND4    
20100804863 10900 C-T syn MT-ND4    
20100804864 10907 T-C F-L MT-ND4    
20100804865 10908 T-C F-S MT-ND4    
20100804866 10915 T-C syn MT-ND4    
20100804867 10920 C-T P-L MT-ND4    
20100804868 10927 T-C syn MT-ND4    
20100804869 10963 A-G syn MT-ND4    
20040209036 10969 C-T syn MT-ND4 Oral Cancer MARATHI
20100804870 10972 A-G syn MT-ND4    
19990316037 10978 A-G syn MT-ND4 - -
20100804871 10978 A-G syn MT-ND4    
20100804872 11005 C-T syn MT-ND4    
20100804873 11009 T-C syn MT-ND4    
20030918005 11015 A-G S-G MT-ND4 Liver Cancer Asian
19990316038 11016 G-A S-N MT-ND4 - -
20040209003 11016 G-A S-N MT-ND4 Oral Cancer Asian Indian
20100804874 11017 T-C syn MT-ND4    
20040209030 11023 A-G syn MT-ND4 Oral Cancer Asian Indian
20100804875 11025 T-C L-P MT-ND4    
20100804876 11039 C-T L-F MT-ND4    
20040209016 11047 C-A syn MT-ND4 Oral Cancer MUSLIM
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
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
20100804878 11071 C-T syn MT-ND4    
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
20100804879 11075 T-C syn MT-ND4    
20140730009 11081 A-G M-V MT-ND4 CAD+T2DM Asian Indian
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    
20100804881 11084 A-G T-A MT-ND4    
20010301001 11087 T-C F-L MT-ND4 - Caucasian
20100804882 11101 A-G syn MT-ND4    
20040209015 11140 C-G I-M MT-ND4 Oral Cancer MARATHI
20100804883 11147 T-C syn MT-ND4    
20001017008 11152 T-C syn MT-ND4 Lung Cancer Arabs
20100804884 11152 T-C syn MT-ND4    
20100804885 11155 C-T syn MT-ND4    
19990316039 11167 A-G syn MT-ND4 - -
20100804886 11167 A-G syn MT-ND4    
20100804887 11172 A-G N-S MT-ND4    
20001017006 11176 G-A syn MT-ND4 Lung Cancer African/American
20100804888 11176 G-A syn MT-ND4    
20000825007 11177 C-T P-S MT-ND4 Pancreatic Cancer Caucasian
20100804889 11197 C-T syn MT-ND4    
20100804890 11203 C-T syn MT-ND4    
20100804891 11204 T-C F-L MT-ND4    
20040209031 11215 C-T syn MT-ND4 Oral Cancer Asian Indian
20100804892 11221 A-G syn MT-ND4    
20100804893 11233 T-C syn MT-ND4    
20100804894 11242 C-G syn MT-ND4    
20100804895 11251 A-G syn MT-ND4    
20100804896 11253 T-C I-T MT-ND4    
20051225001 11260 T-A syn MT-ND4 LHON Caucasian
20060122001 11260 T-A syn MT-ND4 Mitochondrial Myopathy Caucasian
20091229019 11287 T-C syn MT-ND4 Breast Cancer Africain
20100804897 11287 T-C syn MT-ND4    
20100804898 11299 T-C syn MT-ND4    
20001017004 11302 C-T syn MT-ND4 Lung Cancer African/American
20040209047 11314 A-C E-D MT-ND4 Normal GUJARATI
20100804899 11326 C-T syn MT-ND4    
20091229020 11329 A-G syn MT-ND4 Breast Cancer Africain
20040209033 11332 C-T syn MT-ND4 Oral Cancer Asian Indian
20100804900 11332 C-T syn MT-ND4    
20140730010 11336 A-C N-H MT-ND4 CAD+T2DM Asian Indian
20070612006 11337 A-G N-S MT-ND4 Normal Saudi Arabs
20100804901 11337 A-G N-S MT-ND4    
20040209032 11339 T-C syn MT-ND4 Oral Cancer Asian Indian
20100804902 11339 T-C syn MT-ND4    
20100804903 11353 T-C syn MT-ND4    
20040210022 11362 A-G syn MT-ND4 NAION Arabs
20080120002 11362 A-G syn MT-ND4 KSS Caucasian/Africain
20140217006 11375 A-C K-Q MT-ND4 sCJD Han Chinese
20100804904 11377 G-A syn MT-ND4    
20100804905 11379 T-G M-Ter MT-ND4    
20100804906 11380 A-G syn MT-ND4    
20100804907 11383 T-C syn MT-ND4    
20100804908 11386 T-C syn MT-ND4    
20040317005 11399 T-C syn MT-ND4 Normal Saudi Arab
20040825001 11404 A-G syn MT-ND4 Postural Tachycardia Syndrome (POTS) Caucasian
20040713005 11407 C-T syn MT-ND4 Oral Cancer Asian
20140217005 11407 C-T L-L MT-ND4 sCJD Han Chinese
20040210023 11422 C-T syn MT-ND4 NAION Arabs
20040317006 11440 G-A syn MT-ND4 Normal Saudi Arab
20100804909 11440 G-A syn MT-ND4    
20100804910 11447 G-A V-M MT-ND4    
20100804911 11449 A-G syn MT-ND4    
20100804912 11461 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
19990316040 11470 A-G syn MT-ND4 - -
20100804914 11470 A-G syn MT-ND4    
20100804915 11485 T-C syn MT-ND4    
20070527008 11503 C-G syn MT-ND4 Breast Cancer Caucasian
20100804916 11504 A-G I-V MT-ND4    
20040209017 11506 T-C syn MT-ND4 Oral Cancer MUSLIM
20100804917 11506 T-C syn MT-ND4    
20100804918 11515 C-A syn MT-ND4    
20040209023 11518 G-A syn MT-ND4 Oral Cancer MALAYALI
20140730012 11528 A-C M-L MT-ND4 CAD+T2DM Asian Indian
20040209042 11530 A-G M-Term MT-ND4 Oral Cancer MARATHI
20100804919 11533 C-T syn MT-ND4    
20100804920 11566 A-G syn MT-ND4    
20070527006 11567 A-G I-V MT-ND4 Breast Cancer Caucasian
20100804921 11590 A-G syn MT-ND4    
20010828029 11617 T-C syn MT-ND4 Sporadic Parathyroid Adenoma -
20040317015 11620 A-G syn MT-ND4 Normal Saudi Arab
20001017007 11641 A-G syn MT-ND4 Lung Cancer African/American
20100804922 11653 A-G syn MT-ND4    
20100804923 11654 A-G T-A MT-ND4    
20060130002 11674 C-T syn MT-ND4 Mental Retardation Caucasian
20100804924 11674 C-T syn MT-ND4    
20010303008 11696 G-A V-I MT-ND4 Breast Cancer Caucasian
20100804925 11696 G-A V-I MT-ND4    
20110503025 11698 C-T syn MT-ND4 Congenital Non-syndromic Deafness  
20100804926 11701 T-C syn MT-ND4    
20040209005 11719 G-A syn MT-ND4 Oral Cancer Asian Indian
20100804927 11719 G-A syn MT-ND4    
20010303004 11723 A-G T-A MT-ND4 Breast Cancer Caucasian
19990316041 11732 T-C syn MT-ND4 - -
20100804928 11732 T-C syn MT-ND4    
20010303001 11734 A-G syn MT-ND4 Breast Cancer Caucasian
20080117010 11743 C-T syn MT-ND4 Deafness Caucasian/Africain
20040210024 11761 C-T syn MT-ND4 NAION Arabs
20051007005 11776 T-G S-Ter MT-ND4 - Caucasian
20100804929 11778 G-A R-H MT-ND4    
20100804930 11788 C-T syn MT-ND4    
20100804931 11803 T-C syn MT-ND4    
20040209055 11808 C-A T-N MT-ND4 Normal GUJARATI
20100804932 11809 T-C syn MT-ND4    
20100804933 11812 A-G syn MT-ND4    
20100804934 11815 C-T syn MT-ND4    
20040209046 11818 A-C syn MT-ND4 Normal MARATHI
20040209048 11827 T-C syn MT-ND4 Normal GUJARATI
20050813010 11830 T-G F-L MT-ND4 Normal Arabs
20100804935 11840 C-T syn MT-ND4    
20100804936 11851 C-T syn MT-ND4    
20100804937 11852 G-A A-T MT-ND4    
20040209006 11855 A-C N-H MT-ND4 Oral Cancer Asian Indian
20100804938 11864 T-C syn MT-ND4    
20100804939 11869 C-A syn MT-ND4    
20070327009 11875 T-C syn MT-ND4 Leigh Syndrome Arabs
20040720011 11878 T-C syn MT-ND4 Breast Cancer Asian
20100804940 11878 T-C syn MT-ND4    
20040317009 11887 G-A syn MT-ND4 Normal Saudi Arab
20100804941 11887 G-A syn MT-ND4    
20100804942 11893 A-G syn MT-ND4    
20040209021 11914 G-A syn MT-ND4 Oral Cancer MARATHI
20100804943 11914 G-A syn MT-ND4    
20100804944 11923 A-G syn MT-ND4    
20080117009 11926 A-G syn MT-ND4 Deafness Caucasian/Africain
20040825002 11930 A-G I-V MT-ND4 Postural Tachycardia Syndrome (POTS) Caucasian
20100804945 11932 C-T syn MT-ND4    
20040210025 11935 T-C syn MT-ND4 NAION Arabs
20100804946 11938 C-T syn MT-ND4    
20100804947 11939 C-T syn MT-ND4    
20100804948 11944 T-C syn MT-ND4    
20100804949 11947 A-G syn MT-ND4    
20100804950 11965 C-T syn MT-ND4    
20110801015 11965 C-G syn MT-ND4 NORMAL ASIAN
20040209022 11969 G-A A-T MT-ND4 Oral Cancer MARATHI
20100804951 11969 G-A A-T MT-ND4    
20040713015 11976 A-C Y-S MT-ND4 Esophageal Cancer Asian
20100804952 11977 C-T syn MT-ND4    
20040209007 12007 G-A syn MT-ND4 Oral Cancer Bengali
20100804953 12007 G-A syn MT-ND4    
20120618008 12012 C-A S-STOP MT-ND4 LHON Iranian
20001017005 12020 C-T syn MT-ND4 Lung Cancer African/American
20100804954 12025 C-T syn MT-ND4    
20100804955 12030 A-G N-S MT-ND4    
20040209045 12052 A-G syn MT-ND4 Normal MARATHI
20110503026 12057 A-G E-G MT-ND4 Congenital Non-syndromic Deafness  
20100804956 12063 C-T T-I MT-ND4    
20100804957 12070 G-A syn MT-ND4    
20140214001 12071 T-C Phe438Pro MT-ND4 control Caucasian
20100804958 12082 A-G syn MT-ND4    
20100804959 12083 T-A S-T MT-ND4    
20100804960 12083 T-G S-A MT-ND4    
20100804961 12127 G-A syn MT-ND4    
20080416001 12133 C-T syn MT-ND4 MELAS Caucasian
20100804962 12133 C-T syn MT-ND4    
20100804963 12136 T-C syn MT-ND4    
20050919035 10079 A-C L-F MT-ND3 Normal Arabs
20100804772 10081 T-C M-T MT-ND3    
20100804773 10084 T-C I-T MT-ND3    
20100804774 10097 A-G syn MT-ND3    
20070327007 10098 G-A A-T MT-ND3 Deafness Arabs
20100804775 10109 A-T syn MT-ND3    
20100804776 10110 A-C M-L MT-ND3    
20100804777 10112 A-C M-I MT-ND3    
20100804778 10113 A-T I-F MT-ND3    
20001017011 10115 T-C syn MT-ND3 Lung Cancer Caucasian
20100804779 10115 T-C syn MT-ND3    
20100804780 10116 A-C I-L MT-ND3    
20100804781 10116 A-G I-V MT-ND3    
20100804782 10124 T-C syn MT-ND3    
20100804783 10142 C-T syn MT-ND3    
20050809015 10143 G-A G-S MT-ND3 Normal Arabs
20100804784 10151 A-G syn MT-ND3    
20030918004 10153 A-C E-A MT-ND3 Liver Cancer Asian
20100804785 10154 A-G syn MT-ND3    
20110224001 10158 T-G S-A MT-ND3 LHON South Indian
20050813007 10159 C-G S-C MT-ND3 Normal Arabs
20100804786 10169 C-T syn MT-ND3    
20100804787 10172 G-A syn MT-ND3    
20100804788 10191 T-C S-P MT-ND3    
20100804789 10192 C-T S-F MT-ND3    
20100804790 10196 C-T syn MT-ND3    
20100804791 10204 T-C V-A MT-ND3    
20100804792 10211 C-T syn MT-ND3    
20100804793 10217 A-G syn MT-ND3    
20100804794 10227 T-C syn MT-ND3    
20050928002 10230 G-C V-L MT-ND3 Optic Neuropathy, visual loss Caucasian
20100804795 10232 A-G syn MT-ND3    
20100804796 10235 T-C syn MT-ND3    
20140730005 10236 A-G I-V MT-ND3 CAD+T2DM Asian Indian
20100804797 10237 T-C I-T MT-ND3    
20050919021 10238 T-C syn MT-ND3 Normal Arabs
20100804798 10238 T-C syn MT-ND3    
20100804799 10245 T-C syn MT-ND3    
20100804800 10256 T-C syn MT-ND3    
20050919022 10262 A-G syn MT-ND3 Normal Arabs
20100804801 10262 A-G syn MT-ND3    
20070327008 10265 T-C syn MT-ND3 Leigh Syndrome Arabs
20100804802 10265 T-C syn MT-ND3    
20040713014 10282 T-A L-Q MT-ND3 Esophageal Cancer Asian
20100804803 10283 A-G syn MT-ND3    
20040317004 10289 A-G syn MT-ND3 Normal Saudi Arab
20100804804 10289 A-G syn MT-ND3    
20080117008 10308 C-T syn MT-ND3 Deafness Caucasian/Africain
20100804805 10310 G-A syn MT-ND3    
20100804806 10320 G-A V-I MT-ND3    
20100804807 10321 T-C V-A MT-ND3    
20100804808 10323 A-G M-V MT-ND3    
20010828026 10325 G-A syn MT-ND3 Sporadic Parathyroid Adenoma -
20100804809 10325 G-A syn MT-ND3    
20140730006 10331 C-T syn MT-ND3 CAD+T2DM Asian Indian
20100804810 10340 A-G syn MT-ND3    
20100804811 10344 A-G I-V MT-ND3    
20110503023 10348 T-C I-T MT-ND3 Congenital Non-syndromic Deafness  
20100804812 10361 T-C syn MT-ND3    
20100804813 10373 G-A syn MT-ND3    
20120124008 10373 G-C syn MT-ND3 Normal Indonesian
20100804814 10394 C-T syn MT-ND3    
20140318001 10394 C-A D-E MT-ND3 Cardiomyopathy caucasian
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    
20120618003 10399 C-T A-T MT-ND3 LHON Iranian
20100804231 4491 G-A V-I MT-ND2    
20100804232 4501 C-T S-F MT-ND2    
20061030003 4505 C-T syn MT-ND2 Huntington Disease-Like 2 south African Mixed Ancestry
20040713002 4510 T-G F-C MT-ND2 Oral Cancer Asian
20091229005 4512 G-A A-T MT-ND2 Breast Cancer Caucasian
20100804233 4529 A-T syn MT-ND2    
20120618004 4539 T-A S-T MT-ND2 LHON Iranian
20100804234 4550 T-C syn MT-ND2    
20100804235 4553 T-C syn MT-ND2    
20100804236 4561 T-C V-A MT-ND2    
20040720010 4562 A-G syn MT-ND2 Breast Cancer Asian
20140729012 4573 T-A M-K MT-ND2 CAD+T2DM Asian Indian
20100804237 4577 C-T syn MT-ND2    
20100804238 4580 G-A syn MT-ND2    
20100804239 4589 T-C syn MT-ND2    
20120618015 4596 G-A V-I MT-ND2 LHON Iranian
20091229006 4598 T-C syn MT-ND2 Breast Cancer African, Amerindian
20100125001 4611 A-G M-V MT-ND2 diabetes Tunisian
20100804240 4616 C-T syn MT-ND2    
20100804241 4622 T-C syn MT-ND2    
20010828012 4640 C-A I-M MT-ND2 Sporadic Parathyroid Adenoma -
20100804242 4640 C-A I-M MT-ND2    
20100804243 4643 G-A syn MT-ND2    
20100804244 4646 T-C syn MT-ND2    
20100804245 4659 G-A A-T MT-ND2    
20100804246 4676 C-T syn MT-ND2    
20100804247 4688 T-C syn MT-ND2    
20100804248 4703 T-C syn MT-ND2    
20100804249 4706 A-G syn MT-ND2    
20100804250 4715 A-G syn MT-ND2    
20100804251 4722 A-G T-A MT-ND2    
20100804252 4727 A-G syn MT-ND2    
20110801005 4730 C-T syn MT-ND2 NORMAL ASIAN
20100804253 4732 A-G N-S MT-ND2    
20100804254 4733 T-C syn MT-ND2    
20050813002 4734 A-G T-A MT-ND2 Normal Arabs
20100804255 4736 T-C syn MT-ND2    
20100804256 4739 C-T syn MT-ND2    
20100804257 4745 A-G syn MT-ND2    
20100804258 4748 C-T syn MT-ND2    
20100804259 4754 A-C syn MT-ND2    
20091229007 4755 T-C syn MT-ND2 Breast Cancer Africain
20100804260 4763 C-T syn MT-ND2    
20050813003 4767 A-G M-V MT-ND2 Normal Arabs
20050919017 4769 A-G syn MT-ND2 Normal Arabs
20100804261 4769 A-G syn MT-ND2    
20100804262 4770 G-T A-S MT-ND2    
20140730001 4771 C-G A-G MT-ND2 CAD+T2DM Asian Indian
20100804263 4772 T-C syn MT-ND2    
20100804264 4774 T-C M-T MT-ND2    
20100804265 4790 A-G syn MT-ND2    
20000825014 4793 A-G syn MT-ND2 Pancreatic Cancer Caucasian
20100804266 4793 A-G syn MT-ND2    
20100804267 4811 A-G syn MT-ND2    
20100804268 4812 G-C V-L MT-ND2    
20100804269 4817 A-G syn MT-ND2    
20000825003 4820 G-A syn MT-ND2 Pancreatic Cancer Caucasian
20100804270 4820 G-A syn MT-ND2    
20100804271 4823 T-C syn MT-ND2    
20070724001 4842 A-G T-A MT-ND2 Leigh Syndrome Caucasian/Africain
20100804272 4843 C-T T-M MT-ND2    
20100804273 4856 T-C syn MT-ND2    
20070724003 4859 T-C syn MT-ND2 Leigh Syndrome Caucasian/Africain
20100804274 4898 C-T syn MT-ND2    
20050809002 4904 C-A I-M MT-ND2 Normal Arabs
20010301003 4917 A-G N-D MT-ND2 - Caucasian
20050809003 4917 A-G N-D MT-ND2 Normal Arabs
20100804275 4917 A-G N-D MT-ND2    
20100804276 4924 G-A S-N MT-ND2    
20140731001 4927 T-C L-P MT-ND2 CAD Asian Indian
20100804277 4928 T-C syn MT-ND2    
20120618006 4932 C-A L-I MT-ND2 LHON Iranian
20100804278 4936 C-T T-I MT-ND2    
20120618002 4941 T-A S-T MT-ND2 LHON Iranian
20100804279 4946 C-T syn MT-ND2    
20100804280 4961 A-G syn MT-ND2    
20100804281 4965 A-G S-G MT-ND2    
20040720014 4973 T-C syn MT-ND2 Breast Cancer Caucasian
20100804282 4976 A-G syn MT-ND2    
20000825004 4977 T-C syn MT-ND2 Pancreatic Cancer Caucasian
20100804283 4977 T-C syn MT-ND2    
20100804284 4991 G-A syn MT-ND2    
20000825011 5004 T-C syn MT-ND2 Pancreatic Cancer Caucasian
20100804285 5004 T-C syn MT-ND2    
20140731002 5015 C-T syn MT-ND2 CAD Asian Indian
20100804286 5021 T-C syn MT-ND2    
20100804287 5024 C-T syn MT-ND2    
20010424003 5026 A-G H-R MT-ND2 Sporadic Parathyroid Adenoma -
20100804288 5029 T-C M-T MT-ND2    
19990316013 5036 A-G syn MT-ND2 - -
20100804289 5036 A-G syn MT-ND2    
20100804290 5038 T-G M-Ter MT-ND2    
20100804291 5041 T-G M-Ter MT-ND2    
19990316014 5046 G-A V-I MT-ND2 - -
20100804292 5046 G-A V-I MT-ND2    
20100804293 5051 A-G syn MT-ND2    
19990316015 5054 G-A syn MT-ND2 - -
20100804294 5054 G-A syn MT-ND2    
20100804295 5063 T-C syn MT-ND2    
20091229008 5069 A-T M-I MT-ND2 Breast Cancer Africain
20100804296 5074 T-C I-T MT-ND2    
20110801002 5082 T-C syn MT-ND2 Hearing Impairment and Diabetes ASIAN
20091229009 5087 T-C syn MT-ND2 Breast Cancer Africain
20091229010 5096 T-C syn MT-ND2 Breast Cancer Africain
20100804297 5108 T-C syn MT-ND2    
20110503013 5117 C-T syn MT-ND2 Congenital Non-syndromic Deafness  
20100804298 5124 C-A L-I MT-ND2    
20100804299 5128 A-G N-S MT-ND2    
20091229011 5134 A-G N-S MT-ND2 Breast Cancer Caucasian
20091229012 5141 C-T syn MT-ND2 Breast Cancer Africain
20091229013 5144 C-T syn MT-ND2 Breast Cancer Africain
20100804300 5147 G-A syn MT-ND2    
20100804301 5153 A-G syn MT-ND2    
20100804302 5162 T-C syn MT-ND2    
20100804303 5174 C-T syn MT-ND2    
20100804304 5177 G-A syn MT-ND2    
20010301002 5198 A-G syn MT-ND2 - Caucasian
20100804305 5198 A-G syn MT-ND2    
20100804306 5201 T-C syn MT-ND2    
20100804307 5206 C-T S-F MT-ND2    
20100804308 5213 C-T syn MT-ND2    
20120124003 5213 C-G syn MT-ND2 Normal Indonesian
20110503014 5225 A-G syn MT-ND2 Congenital Non-syndromic Deafness  
20100804309 5231 G-A syn MT-ND2    
20100804310 5232 C-A P-T MT-ND2    
20100804311 5237 G-A syn MT-ND2    
20100804312 5240 A-G syn MT-ND2    
20100804313 5250 T-C syn MT-ND2    
20100804314 5262 G-A A-T MT-ND2    
20050809004 5263 C-T A-V MT-ND2 Normal Arabs
20100804315 5277 T-C F-L MT-ND2    
20040720015 5285 A-G syn MT-ND2 Breast Cancer Caucasian
20091229014 5300 C-T syn MT-ND2 Breast Cancer Africain
20100804316 5301 A-G I-V MT-ND2    
20051007002 5315 A-G syn MT-ND2 Encephalomyopathy Caucasian
20100804317 5315 A-G syn MT-ND2    
20100804318 5319 A-G T-A MT-ND2    
20100804319 5322 A-C I-L MT-ND2    
20100804320 5339 C-A syn MT-ND2    
20000825015 5348 C-T syn MT-ND2 Pancreatic Cancer Caucasian
20100804321 5351 A-G syn MT-ND2    
20040317001 5360 C-T syn MT-ND2 Normal Saudi Arab
20100804322 5360 C-T syn MT-ND2    
20091229015 5372 A-G syn MT-ND2 Breast Cancer Africain
20100804323 5375 C-T syn MT-ND2    
20100804324 5378 A-G syn MT-ND2    
19990316016 5390 A-G syn MT-ND2 - -
20100804325 5390 A-G syn MT-ND2    
19990316017 5393 T-C syn MT-ND2 - -
20100804326 5393 T-C syn MT-ND2    
20100804327 5414 A-G syn MT-ND2    
20091229016 5420 T-C syn MT-ND2 Breast Cancer Amerindian
20100804328 5423 A-G syn MT-ND2    
20100804329 5426 T-C syn MT-ND2    
20080520001 5432 A-G syn MT-ND2 Ptosis, eye pain Asian
20100804330 5437 C-T T-I MT-ND2    
20100804331 5442 T-C F-L MT-ND2    
20100804332 5450 C-T syn MT-ND2    
20100804333 5452 C-T T-M MT-ND2    
20070724004 5453 A-G syn MT-ND2 Leigh Syndrome Caucasian/Africain
20140214016 5459 C-T I-I MT-ND2    
20050813016 5460 G-A A-T MT-ND2 Normal Arabs
20100804334 5460 G-A A-T MT-ND2    
20100804335 5463 C-T L-F MT-ND2    
20100804336 5465 T-C syn MT-ND2    
20010301004 5471 G-A syn MT-ND2 - Caucasian
20100804337 5471 G-A syn MT-ND2    
20100804338 5477 C-T syn MT-ND2    
19990316018 5485 T-C I-T MT-ND2 - -
20100804339 5492 T-C syn MT-ND2    
20100804340 5495 T-C syn MT-ND2    
20100804341 5496 A-G M-V MT-ND2    
20100804342 5501 A-G syn MT-ND2    
20100804343 5504 A-T M-I MT-ND2    
20100804344 5508 T-C syn MT-ND2    
20100804124 3308 T-C M-T MT-ND1    
20090315002 3316 G-A A-T MT-ND1 Uterine Leiomyomas Asian Indian
20100804125 3316 G-A A-T MT-ND1    
20101129004 3316 G-A A-T MT-ND1 Nonsyndromic Hearing Loss FARS
20090315005 3327 A-C syn MT-ND1 Uterine Leiomyomas Asian Indian
20100804126 3335 T-C I-T MT-ND1    
20100804127 3336 T-C syn MT-ND1    
20100804128 3338 T-C V-A MT-ND1    
20060518004 3342 C-T syn MT-ND1 - Caucasian
20090315004 3342 C-A syn MT-ND1 Uterine Leiomyomas Asian Indian
20100804129 3348 A-G syn MT-ND1    
20011206001 3351 C-T syn MT-ND1 Unknown cardio-facio-cutaneous syndrome Caucasian
20090315009 3352 G-A A-T MT-ND1 Uterine Leiomyomas Asian Indian
20100429001 3355 A-G M-V MT-ND1 myopathy Caucasian
20100804130 3355 A-G M-V MT-ND1    
20021231013 3360 A-G syn MT-ND1 Leucodystrophy Caucasian
20100804131 3360 A-G syn MT-ND1    
20090315007 3376 G-A E-K MT-ND1 Uterine Leiomyomas Asian Indian
20090315008 3380 G-A R-Q MT-ND1 Uterine Leiomyomas Asian Indian
20110503005 3387 T-C syn MT-ND1 Congenital Non-syndromic Deafness  
20110704001 3388 C-A L-M MT-ND1 non-syndromic deafness  
20100804132 3394 T-C Y-H MT-ND1    
20100920002 3395 A-G Y-C MT-ND1 Cardiomyopathy and hearing-loss Caucasian/Africain
20010828007 3397 A-G M-V MT-ND1 Sporadic Parathyroid Adenoma -
20070208002 3397 A-G M-V MT-ND1 Type 2 Diabetes Mellitus Ashkenazi Jew
20100804133 3397 A-G M-V MT-ND1    
20100804134 3398 T-C M-T MT-ND1    
20100804135 3399 A-T M-I MT-ND1    
20090315006 3421 G-A V-I MT-ND1 Uterine Leiomyomas Asian Indian
20100804136 3423 T-C syn MT-ND1    
20100804137 3426 A-G syn MT-ND1    
20100804138 3434 A-G Y-C MT-ND1    
20110503006 3438 G-T syn MT-ND1 Congenital Non-syndromic Deafness  
20090315003 3442 C-T syn MT-ND1 Uterine Leiomyomas Asian Indian
20110503007 3444 A-T syn MT-ND1 Congenital Non-syndromic Deafness  
20140729009 3444 A-T syn MT-ND1 CAD+T2DM Asian Indian
20100804139 3447 A-G syn MT-ND1    
20110503008 3456 T-G syn MT-ND1 Congenital Non-syndromic Deafness  
20100804140 3460 G-A A-T MT-ND1    
20100804141 3480 A-G syn MT-ND1    
20100804142 3483 G-A syn MT-ND1    
20110503009 3486 C-T syn MT-ND1 Congenital Non-syndromic Deafness  
20100804143 3504 T-C syn MT-ND1    
20100804144 3505 A-G T-A MT-ND1    
20040217001 3507 C-T syn MT-ND1 - Caucasian
20041107006 3516 C-T syn MT-ND1 Type 2 Diabetes Mellitus Mongolia
20050919032 3527 C-A A-D MT-ND1 Normal Arabs
20040809001 3528 C-T syn MT-ND1 Myopathy Chinese-China
20040210001 3531 G-A syn MT-ND1 NAION Arabs
20100804145 3531 G-A syn MT-ND1    
20100804146 3535 T-A L-M MT-ND1    
20100804147 3540 T-C syn MT-ND1    
20000825002 3547 A-G I-V MT-ND1 Pancreatic Cancer Caucasian
20100804148 3547 A-G I-V MT-ND1    
19990218007 3552 T-A syn MT-ND1 LHON Hispanic
20100804149 3552 T-C syn MT-ND1    
20100804150 3565 A-G T-A MT-ND1    
20040713001 3571 C-T L-F MT-ND1 Oral Cancer Asian
20051031001 3579 A-G syn MT-ND1 Encephalomyopathy Caucasian
20010828008 3591 G-A P-L MT-ND1 Sporadic Parathyroid Adenoma -
20100804151 3591 G-A syn MT-ND1    
19990316009 3594 C-T syn MT-ND1 - -
20040210002 3594 C-T syn MT-ND1 NAION Arabs
20100804152 3594 C-T syn MT-ND1    
20040317012 3597 C-T syn MT-ND1 Normal Saudi Arab
20041107002 3605 T-C L-P MT-ND1 Type 2 Diabetes Mellitus Mongolia
20090714006 3609 C-T no MT-ND1 Aminoglycoside-induced hearing loss Caucasian
20000825017 3635 G-A S-N MT-ND1 Pancreatic Cancer Caucasian
20031029001 3645 T-C syn MT-ND1 LHON Arabs
20100804153 3645 T-C syn MT-ND1    
20110503010 3652 A-G I-V MT-ND1 Congenital Non-syndromic Deafness  
20100804154 3654 C-T syn MT-ND1    
19990316010 3666 G-A syn MT-ND1 - -
20100804155 3666 G-A syn MT-ND1    
20000825018 3670 G-A A-T MT-ND1 Pancreatic Cancer Caucasian
20000825019 3670 G-A A-T MT-ND1 Pancreatic Cancer Caucasian
20100804156 3672 A-G syn MT-ND1    
20100804157 3687 C-T syn MT-ND1    
19990316011 3693 G-A syn MT-ND1 - -
20100804158 3693 G-A syn MT-ND1    
20091229001 3710 C-T A-V MT-ND1 Breast Cancer Caucasian
20100804159 3720 A-G syn MT-ND1    
20100804160 3732 T-C syn MT-ND1    
20100804161 3735 A-G syn MT-ND1    
20100804162 3736 G-A V-I MT-ND1    
20100804163 3738 C-T syn MT-ND1    
20020409001 3741 C-T syn MT-ND1 MELAS Caucasian
20020410001 3741 C-T syn MT-ND1 MELAS Caucasian
20100804164 3741 C-T syn MT-ND1    
20100804165 3747 C-T syn MT-ND1    
20100804166 3753 T-C syn MT-ND1    
20091229002 3756 A-G syn MT-ND1 Breast Cancer Africain
20100804167 3756 A-G syn MT-ND1    
20100804168 3766 T-C syn MT-ND1    
20040210003 3768 A-G syn MT-ND1 NAION Arabs
20100804169 3777 T-C syn MT-ND1    
20110503011 3783 C-T syn MT-ND1 Congenital Non-syndromic Deafness  
20100804170 3796 A-G T-A MT-ND1    
20100804171 3801 T-C syn MT-ND1    
20091229003 3803 T-C I-T MT-ND1 Breast Cancer Caucasian
20100804172 3825 A-G syn MT-ND1    
20100804173 3826 T-C syn MT-ND1    
20040210004 3834 G-A syn MT-ND1 NAION Arabs
20100804174 3834 G-A syn MT-ND1    
20091229004 3846 C-T syn MT-ND1 Breast Cancer Amerindian
20040210005 3847 T-C syn MT-ND1 NAION Arabs
20050919016 3847 T-C syn MT-ND1 Normal Arabs
20100804175 3847 T-C syn MT-ND1    
20100804176 3849 G-A syn MT-ND1    
20100519001 3861 A-G syn MT-ND1 Leigh Syndrome Caucasian/Africain
20100804177 3861 A-G syn MT-ND1    
20050809001 3866 T-C I-T MT-ND1 Normal Arabs
20100804178 3866 T-G I-S MT-ND1