MITOMAP: Unpublished mtDNA Variants {ARCHIVED, no longer updated}

To submit unpublished mtDNA variant data to an online database, please contact lishen@chla.usc.edu at MSeqDR.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

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

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

Also see the submission index


Point Mutations - includes benign & 'potentially pathogenic' variants

Details and Citation Position Nucleotide Change Amino Acid Change Locus / Gene Patient Group / Phenotype Ethnographic Info
20030528078 33 C-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529017 34 G-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529018 43 C-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030428001 47 G-A non-coding Control Region Normal Kazhakh
20030529043 48 C-G non-coding Control Region Oral Cancer Asian Indian
20140729001 50 T-C non-coding Control Region CAD+T2DM Asian Indian
20030529001 53 G-T non-coding Control Region Oral Cancer Asian Indian- Bihari
20030528079 55 T-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528080 60 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528122 63 T-G non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030528123 66 G-A non-coding Control Region Oral Cancer Asian Indian- Gujarati
20120907009 67 G-C noncod D-Loop   European
20030527020 72 T-G non-coding Control Region Oral Cancer Asian Indian
20140630016 72 T-A non-coding Control Region Glioma  
20030527021 73 A-G non-coding Control Region Oral Cancer Asian Indian
20100822001 73 A-G non-coding Control Region Oral Cancer Indian- Bengali
20100908009 73 A-G non-coding Control Region Oral Submucous Fibrosis Asian-Bengali
20030528124 74 T-G non-coding Control Region Oral Cancer Asian Indian- Gujarati
20120907006 74 T-G noncod D-Loop   European
20030428002 75 G-A non-coding Control Region Normal Kazhakh
20030529044 76 C-G non-coding Control Region Oral Cancer Asian Indian
20030529045 77 A-G non-coding Control Region Oral Cancer Asian Indian
20030529046 79 G-C non-coding Control Region Oral Cancer Asian Indian
20030528022 81 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529047 81 G-C non-coding Control Region Oral Cancer Asian Indian
20030528023 85 G-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529010 88 T-A non-coding Control Region Oral Cancer Asian Indian
20030528127 91 C-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20140214003 93 A-G non-coding Control Region Control Caucasian
20030528024 94 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529036 96 C-A non-coding Control Region Oral Cancer Asian Indian
20160806004 96 C-A   CR:HVS2   Iranian
20030528069 97 G-C non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528070 98 C-T non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528128 102 A-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528129 103 G-A non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528130 104 C-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030529019 105 C-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529037 108 A-G non-coding Control Region Oral Cancer Asian Indian
20030528025 109 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528131 114 C-T non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030529011 119 T-G non-coding Control Region Oral Cancer Asian Indian
20140407001 120 C-A non-coding Control Region NON CODING ASIAN
20140729002 120 C-A non-coding Control Region CAD+T2DM Asian Indian
20030529048 121 G-C non-coding Control Region Oral Cancer Asian Indian
20030528132 122 C-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528151 124 G-A non-coding Control Region Oral Cancer Asian Indian
20000211004 125 T-G noncod D-Loop - Chinese
20030527003 125 T-A non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030528133 125 T-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20021231006 126 T-C noncod D-Loop Normal Madia Gond tribe
20091019002 129 T-C noncod D-Loop Normal Malay
20030527022 131 T-C non-coding Control Region Oral Cancer Asian Indian
20030528026 131 T-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528027 135 T-G non-coding Control Region Oral Cancer Asian Indian
20030529038 136 G-A non-coding Control Region Oral Cancer Asian Indian
20030528134 142 T-C non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030529039 143 G-A non-coding Control Region Oral Cancer Asian Indian
20030528135 144 C-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030916001 146 T-A non-coding Control Region Liver Cancer Asian
20140513001 146 T-C non-coding Control Region Breast cancer Senegalese
20010303003 147 C-T noncod D-Loop Breast Cancer Caucasian
20030527005 150 C-T non-coding Control Region Oral Cancer Asian Indian
20030528030 151 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528028 152 T-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528031 152 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030527025 154 T-A non-coding Control Region Oral Cancer Asian Indian
20030529040 155 T-A non-coding Control Region Oral Cancer Asian Indian
20030529029 157 T-A non-coding Control Region Oral Cancer Asian India
20030529020 159 T-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030529030 162 C-G non-coding Control Region Oral Cancer Asian Indian
20021231007 163 A-G noncod D-Loop Normal Madia Gond tribe
20030528154 164 C-G non-coding Control Region Oral Cancer Asian Indian
20030529004 164 C-A non-coding Control Region Oral Cancer Asian Indian- Bihari
20030528029 165 A-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20140724002 170 C-A non-coding Control Region CAD+T2DM Asian Indian
20030528136 172 T-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030529032 173 T-C non-coding Control Region Oral Cancer Asian Indian
20030528118 174 C-A non-coding Control Region Oral Cancer Asian Indian- Malayali
20030527035 178 A-G non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528119 178 A-T non-coding Control Region Oral Cancer Asian Indian- Malayali
20030529013 180 T-A non-coding Control Region Oral Cancer Asian Indian
20140214019 183 A-G non-coding Control Region    
20021231008 186 C-T noncod D-Loop Normal Madia Gond tribe
20030529023 186 C-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20091019001 188 A-G noncod D-Loop Normal Malay
20021231009 189 T-C noncod D-Loop Normal Madia Gond tribe
20140214005 189 A-G non-coding Control Region isolated complex IV deficiency Caucasian
20140214011 189 A-G non-coding Control Region isolated complex IV deficiency Caucasian
20140214014 189 A-G non-coding Control Region   Caucasian
20030528033 193 A-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20000211002 195 T-A noncod D-Loop - Indian
20030528054 195 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20140214018 203 G-A non-coding Control Region   Caucasian
20030527006 204 T-G non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030527027 204 T-C non-coding Control Region Oral Cancer Asian Indian
20030527007 206 T-G non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030527008 209 T-A non-coding Control Region Oral Cancer Asian Indian- Gujarati
19990218005 216 T-C noncod D-Loop Hearing Loss Caucasian
20140217002 217 T-C non-coding Control Region sCJD Han Chinese
20070527004 220 T-A non-coding Control Region Breast Cancer Caucasian
20030527010 224 T-G non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030528056 226 T-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030527037 227 A-C non-coding Control Region Oral Cancer Asian Indian
20030527038 228 G-C non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528057 229 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528058 231 C-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20140217001 235 A-G non-coding Control Region sCJD Han Chinese
20030528035 237 A-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030527039 238 A-T non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528036 238 A-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030527040 239 T-G non-coding Control Region Oral Cancer Asian Indian- Bengali
20000211003 246 T-C noncod D-Loop - Indian
20040713010 251 G-A non-coding Control Region Esophageal Cancer Asian
20040720001 251 G-A non-coding Control Region Breast Cancer Asian
20010424001 253 C-A noncod D-Loop Sporadic Parathyroid Adenoma -
20030528037 257 A-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030916002 259 A-G non-coding Control Region Liver Cancer Asian
20030528085 260 G-C non-coding Control Region Oral Cancer Asian Indian- Muslim
20040720002 260 G-A non-coding Control Region Breast Cancer Asian
20050106002 262 C-T non-coding Control Region Normal Caucasian
20030528001 263 A-C non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528086 263 A-G non-coding Control Region Oral Cancer Asian Indian- Muslim
20101227001 263 A-G non-coding Control Region Oral cancer Asian-Bengali
20030528002 264 C-G non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528003 265 T-C non-coding Control Region Oral Cancer Asian Indian- Bengali
20060605005 267 T-C non-coding Control Region Normal Indigenous Jehai
20030528004 268 C-G non-coding Control Region Oral Cancer Asian Indian- Bengali
20050106003 269 C-T non-coding Control Region Normal Caucasian
20030528005 271 C-G non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528087 271 C-A non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528006 273 C-A non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528007 283 A-T non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528008 284 A-T non-coding Control Region Oral Cancer Asian Indian- Bengali
20010828002 285 C-T noncod D-Loop Sporadic Parathyroid Adenoma -
20030528009 287 A-T non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528010 288 A-T non-coding Control Region Oral Cancer Asian Indian- Bengali
20040327001 288 A-G non-coding Control Region Pancreatic Ductal Adenocarcinoma Caucasian
20021231010 294 T-C noncod D-Loop Normal Madia Gond tribe
20050106004 295 C-A non-coding Control Region Normal Caucasian
20050106005 324 C-T non-coding Control Region Normal Caucasian
20000211005 329 G-A noncod D-Loop - Malay
19990218006 340 C-T noncod D-Loop Hearing Loss Caucasian
20100905001 366 G-A non-coding Control Region Oral squamous cell carcinoma  
20140729003 369 C-T non-coding Control Region CAD+T2DM Asian Indian
20120907005 377         European
20000915002 447 C-G noncod D-Loop - Punjabi
20091006002 447 C-G noncod D-Loop Normal Kedah Malays
20000914001 463 C-T noncod D-Loop - -
20000211009 469 C-A noncod D-Loop - Punjabi
20050419001 480 T-C non-coding Control Region LHON Caucasian
20040713011 481 C-T non-coding Control Region Esophageal Cancer Asian
20040720003 481 C-T non-coding Control Region Breast Cancer Asian
20000211001 482 T-C noncod D-Loop - Indian
20000914002 485 T-C noncod D-Loop - Indian
20050106007 489 T-G non-coding Control Region Normal Caucasian
20101227002 489 T-C non-coding Control Region Oral cancer Asian-Bengali
20140214007 496 C-T non-coding Control Region   Caucasian
20030916003 504 T-C non-coding Control Region Liver Cancer Asian
20021231001 512 A-G noncod D-Loop Leigh Syndrome Caucasian
20130520002 522 C-T non-coding Control Region   S\xE3o Paulo
20130520003 526 G-A non-coding Control Region    
20040720004 530 C-T non-coding Control Region Breast Cancer Asian
20040720005 556 A-T non-coding Control Region Breast Cancer Asian
20000914003 560 C-T noncod D-Loop - Kadazan-Dusun
20040720006 570 C-A non-coding Control Region Breast Cancer Asian
20110302001 571 C-A non-coding Control Region complex I deficiency  
20040720007 574 A-C non-coding Control Region Breast Cancer Asian
20040720008 576 A-C non-coding Control Region Breast Cancer Asian
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    
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    
20161022001 1147 G-A noncod RNR1 hearing loss Iranian
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    
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    
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    
20121022005 1760       CAD patient Caucasian/Middle European
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    
20121022003 2170       control/normal/healthy Caucasian/Middle European
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
20121022004 2412       control/normal/healthy Caucasian/Middle European
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    
20120907002 2876         European
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    
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
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
20120110001 3321       Cardiomyopathy Caucasian/Africain
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    
20120124001 3873 A-G syn MT-ND1 Normal Indonesian
20100804179 3874 C-T syn MT-ND1    
20100804180 3882 G-A syn MT-ND1    
20120618005 3893 C-G T-S MT-ND1 LHON Iranian
20110503012 3894 C-T syn MT-ND1 Congenital Non-syndromic Deafness  
20100804181 3895 C-A P-T MT-ND1    
20140729010 3900 C-G F-L MT-ND1 CAD+T2DM Asian Indian
20100804182 3915 G-A syn MT-ND1    
20010301007 3921 C-A syn MT-ND1 Breast Cancer Caucasian
20040210006 3921 C-A syn MT-ND1 NAION Arabs
20060518005 3943 A-G I-V MT-ND1 - Caucasian
20100804183 3944 T-C I-T MT-ND1    
20110701001 3959 G-A G-D MT-ND1    
20140729011 3959 G-A G-D MT-ND1 CAD+T2DM Asian Indian
20100804184 3969 C-T syn MT-ND1    
20100804185 3990 C-T syn MT-ND1    
20000825009 3992 C-T T-M MT-ND1 Pancreatic Cancer Caucasian
20100804186 3992 C-T T-M MT-ND1    
20040912001 3993 A-G syn MT-ND1 Normal Arabs
20100804187 3997 A-C I-L MT-ND1    
20100804188 4000 A-T I-F MT-ND1    
20100804189 4005 A-T M-I MT-ND1    
20050813001 4012 A-G T-A MT-ND1 Normal Arabs
20100804190 4012 A-G T-A MT-ND1    
20040912002 4013 C-G T-S MT-ND1 Normal Arabs
20080414003 4017 C-T syn MT-ND1 Hypertrophic Cardiomyopathy Caucasian
20100804191 4017 C-T syn MT-ND1    
20100804192 4020 C-T syn MT-ND1    
20010303006 4021 A-G T-A MT-ND1 Breast Cancer Caucasian
20100804193 4021 A-G T-A MT-ND1    
20000825010 4024 A-G T-A MT-ND1 Pancreatic Cancer Caucasian
20100804194 4024 A-G T-A MT-ND1    
20100804195 4025 C-T T-M MT-ND1    
20100804196 4026 A-G syn MT-ND1    
20101209002 4032 C-T syn MT-ND1 Cardiomyopathy  
20100804197 4038 A-G syn MT-ND1    
20100804198 4047 T-C syn MT-ND1    
20100804199 4048 G-A D-N MT-ND1    
20060518006 4065 A-G syn MT-ND1 - Caucasian
20100804200 4065 A-G syn MT-ND1    
20080414002 4080 T-C syn MT-ND1 Cardiomyopathy Caucasian/Africain
20100804201 4080 T-C syn MT-ND1    
20100804202 4086 C-T syn MT-ND1    
20100804203 4089 C-T syn MT-ND1    
20040210007 4092 G-A syn MT-ND1 NAION Arabs
20100804204 4093 A-G T-A MT-ND1    
19990316012 4104 A-G syn MT-ND1 - -
20040210008 4104 A-G syn MT-ND1 NAION Arabs
20100804205 4104 A-G syn MT-ND1    
20100804206 4107 C-T syn MT-ND1    
20100804207 4112 T-C L-P MT-ND1    
20100804208 4113 G-A syn MT-ND1    
20100804209 4117 T-C syn MT-ND1    
20100804210 4122 A-G syn MT-ND1    
20100804211 4131 A-G syn MT-ND1    
20010424002 4172 T-C L-P MT-ND1 Sporadic Parathyroid Adenoma -
20100804212 4172 T-A L-Q MT-ND1    
20010828009 4188 A-G syn MT-ND1 Sporadic Parathyroid Adenoma -
20100804213 4188 A-G syn MT-ND1    
20040317003 4203 A-G syn MT-ND1 Normal Saudi Arab
20100804214 4203 A-G syn MT-ND1    
20040317011 4204 T-C syn MT-ND1 Normal Saudi Arab
20061030001 4206 A-G syn MT-ND1 Control south African Mixed Ancestry
20010828010 4216 T-C Y-H MT-ND1 Sporadic Parathyroid Adenoma -
20050813014 4216 T-C Y-H MT-ND1 Normal Arabs
20100804215 4216 T-C Y-H MT-ND1    
20100804216 4221 C-A syn MT-ND1    
20100804217 4225 A-G M-V MT-ND1    
20100804218 4227 A-G syn MT-ND1    
20061030002 4232 T-C I-T MT-ND1 Huntington Disease-Like 2 south African Mixed Ancestry
20070527005 4246 A-G I-V MT-ND1 Breast Cancer Caucasian
20110801006 4254 T-C syn MT-ND1   ASIAN
20040210009 4257 A-G syn MT-ND1 NAION Arabs
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    
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    
20100804227 4401 A-T non-coding MT-NC2    
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    
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    
20120124002 5213       Normal Indonesian
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    
20120907001 5307         European
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    
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
20100804349 5580 T-C non-coding MT-NC3    
20100804350 5581 A-G non-coding MT-NC3    
20100804351 5583 C-T non-coding MT-NC3    
20080520003 5585 G-A noncod MT-NC3 Ophthalmoparesis, single eye ptosis Asian
20100804352 5585 G-A non-coding MT-NC3    
20100804353 5586 C-T non-coding MT-NC3    
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    
20100804358 5656 A-G non-coding MT-NC4    
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  
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    
20120907008 5810         European
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    
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
20100804371 5894 A-G non-coding MT-NC5    
20100804372 5898 C-A non-coding MT-NC5    
20050919019 5913 G-A D-N MT-CO1 Normal Arabs
20100804373 5913 G-A D-N MT-CO1    
20100804374 5918 T-C syn MT-CO1    
20100804375 5951 A-G syn MT-CO1    
20100804376 5973 G-A A-T MT-CO1    
20100804377 5979 G-A A-T MT-CO1    
20050919020 5981 T-C syn MT-CO1 Normal Arabs
20100804378 5985 G-A V-I MT-CO1    
20100804379 5990 A-G syn MT-CO1    
20100804380 5999 T-C syn MT-CO1    
20100804381 6023 G-A syn MT-CO1    
20010828013 6026 G-A syn MT-CO1 Sporadic Parathyroid Adenoma -
20050809005 6040 A-G N-S MT-CO1 Normal Arabs
20100804382 6040 A-G N-S MT-CO1    
19990303003 6045 C-T syn MT-CO1 Hearing Loss Caucasian
20100804383 6045 C-T syn MT-CO1    
20100804384 6047 A-G syn MT-CO1    
20090129001 6060 A-G I-V MT-CO1 COPD Caucasian
20100804385 6071 T-C syn MT-CO1    
20100804386 6080 A-G syn MT-CO1    
20100804387 6092 T-C syn MT-CO1    
20090129002 6140 C-G syn MT-CO1 COPD Caucasian
20110503015 6140 C-A syn MT-CO1 Congenital Non-syndromic Deafness  
20090529003 6146 A-G syn MT-CO1 Infertility Africain/caucasian
20100804388 6146 A-G syn MT-CO1    
20100804389 6150 G-A V-I MT-CO1    
19990316020 6152 T-C syn MT-CO1 - -
20100804390 6152 T-C syn MT-CO1    
20060515001 6164 C-T syn MT-CO1 Progeria Caucasian
20100804391 6164 C-T syn MT-CO1    
20101004002 6164 C-T syn MT-CO1 INFERTILE Africain
20140520003 6164 C-T Syn MT-CO1 infertile  
20100804392 6167 T-C syn MT-CO1    
20100804393 6176 T-C syn MT-CO1    
20090129003 6179 G-A syn MT-CO1 COPD Caucasian
20100804394 6182 G-A syn MT-CO1    
20110503016 6188 C-T syn MT-CO1 Congenital Non-syndromic Deafness  
20110504004 6188 C-A syn MT-CO1 INFERTILITY Africain
20090529002 6216 T-C L1-L2 MT-CO1 Infertility Africain/caucasian
20100804395 6221 T-C syn MT-CO1    
20100930001 6221 T-A syn MT-CO1 infertility African
20140520001 6221 T-A Syn MT-CO1 infertile  
20100804396 6227 T-C syn MT-CO1    
20140217018 6228 C-T L-F MT-CO1 sCJD Han Chinese
20100804397 6237 C-A L-M MT-CO1    
20100804398 6239 G-A syn MT-CO1    
20100804399 6249 G-A A-T MT-CO1    
20100804400 6257 G-A syn MT-CO1    
20100804401 6260 G-A syn MT-CO1    
20100804402 6261 G-A A-T MT-CO1    
20100804403 6267 G-A A-T MT-CO1    
20100804404 6272 A-T syn MT-CO1    
20100804405 6275 A-G syn MT-CO1    
20100804406 6284 A-G syn MT-CO1    
20100804407 6285 G-A V-I MT-CO1    
20110801003 6290 C-T syn MT-CO1 NORMAL ASIAN
20100804408 6293 T-C syn MT-CO1    
20101004001 6296 C-A syn MT-CO1    
20140520002 6296 C-A Syn MT-CO1 infertile  
20090129004 6299 A-G syn MT-CO1 COPD Caucasian
20100804409 6299 A-G syn MT-CO1    
20100804410 6317 C-T syn MT-CO1    
20100804411 6329 C-T syn MT-CO1    
20030918001 6338 A-G syn MT-CO1 Liver Cancer Asian
20100804412 6340 C-T T-I MT-CO1    
20100804413 6351 T-C syn MT-CO1    
20100804414 6365 T-C syn MT-CO1    
20100804415 6366 G-A V-I MT-CO1    
20100804416 6371 C-T syn MT-CO1    
20090129005 6383 G-A syn MT-CO1 COPD Caucasian
20100804417 6383 G-A syn MT-CO1    
20040210010 6386 C-T syn MT-CO1 NAION Arabs
20100804418 6392 T-C syn MT-CO1    
20090129006 6410 C-T syn MT-CO1 COPD Caucasian
20110204001 6416 A-G syn MT-CO1 sensorimotor neuropathy, myopathy and hearing loss Korean
20100804419 6425 T-C syn MT-CO1    
20100804420 6446 G-A syn MT-CO1    
20100804421 6455 C-T syn MT-CO1    
20100804422 6464 C-A syn MT-CO1    
20100804423 6465 G-A V-I MT-CO1    
20000825005 6473 C-T syn MT-CO1 Pancreatic Cancer Caucasian
20100804424 6473 C-T syn MT-CO1    
20100804425 6480 G-A V-I MT-CO1    
20100804426 6489 C-A L-I MT-CO1    
20120312001 6498       Hearing loss and optic atrophy Caucasian/Africain
20100804427 6518 C-T syn MT-CO1    
20090604002 6527 A-T M-I MT-CO1 DIABETES Africain/caucasian
20100125003 6527 A-T M-I MT-CO1 bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, pyramidal syndrome with calcification of basal ganglia and epilepsy Tunisian
20100804428 6527 A-G syn MT-CO1    
20100804429 6528 C-T syn MT-CO1    
20070612003 6546 C-T L-F MT-CO1 Normal Saudi Arabs
19990316021 6548 C-T syn MT-CO1 - -
20100804430 6548 C-T syn MT-CO1    
20100804431 6554 C-T syn MT-CO1    
20100804432 6557 C-T syn MT-CO1    
20100804433 6560 C-T syn MT-CO1    
20010828014 6570 G-T A-S MT-CO1 Sporadic Parathyroid Adenoma -
20140730003 6576 G-A G-Term MT-CO1 CAD+T2DM Asian Indian
20100804434 6599 A-G syn MT-CO1    
20101004003 6614 T-C syn MT-CO1 INFERTILITY Africain
20140520004 6614 T-C Syn MT-CO1 infertile  
20100804435 6617 C-T syn MT-CO1    
20100804436 6620 T-C syn MT-CO1    
20100804437 6629 A-G syn MT-CO1    
20100804438 6632 T-C syn MT-CO1    
20060515002 6641 T-A syn MT-CO1 Progeria Caucasian
20010828015 6656 C-T syn MT-CO1 Sporadic Parathyroid Adenoma -
19990316022 6663 A-G I-V MT-CO1 - -
20100804439 6663 A-G I-V MT-CO1    
20100804440 6665 C-T syn MT-CO1    
20100804441 6671 T-C syn MT-CO1    
20140730004 6677 A-G syn MT-CO1 CAD+T2DM Asian Indian
20100804442 6680 T-C syn MT-CO1    
20100804443 6710 A-G syn MT-CO1    
20100804444 6716 A-G syn MT-CO1    
20100804445 6719 T-C syn MT-CO1    
20100804446 6722 G-A syn MT-CO1    
20100804447 6725 C-A syn MT-CO1    
20100804448 6734 G-A syn MT-CO1    
20100804449 6752 A-G syn MT-CO1    
20100804450 6755 G-A syn MT-CO1    
20100804451 6758 T-C syn MT-CO1    
20100804452 6776 T-C syn MT-CO1    
20100804453 6791 A-G syn MT-CO1    
20100804454 6803 C-T syn MT-CO1    
20100804455 6806 A-G syn MT-CO1    
20101004004 6806 A-G syn MT-CO1 INFERTILITY Africain
19990316023 6827 T-C syn MT-CO1 - -
20100804456 6827 T-C syn MT-CO1    
20100804457 6830 C-A syn MT-CO1    
20100804458 6845 C-T syn MT-CO1    
20120124004 6863 A-G syn MT-CO1 Normal Indonesian
20100804459 6887 C-T syn MT-CO1    
20100804460 6899 G-A syn MT-CO1    
20100804461 6911 T-C syn MT-CO1    
20100804462 6915 G-A V-M MT-CO1    
20100804463 6929 A-G syn MT-CO1    
20100804464 6956 T-C syn MT-CO1    
19990316024 6989 A-G syn MT-CO1 - -
20100804465 6989 A-G syn MT-CO1    
20121022001 6996       control/normal/healthy Caucasian/Middle European
20100804466 7007 C-T syn MT-CO1    
20100804467 7013 G-A syn MT-CO1    
20100804468 7022 T-C syn MT-CO1    
20100804469 7028 C-T syn MT-CO1    
20100804470 7055 A-G syn MT-CO1    
20000402001 7058 T-C syn MT-CO1 Leigh Syndrome Caucasian
20100804471 7080 T-C F-L MT-CO1    
20100804472 7094 T-C syn MT-CO1    
20100804473 7119 G-A D-N MT-CO1    
20040713003 7142 T-C syn MT-CO1 Oral Cancer Asian
19990316025 7146 A-G T-A MT-CO1 - -
20100804474 7146 A-G T-A MT-CO1    
20100804475 7151 C-T syn MT-CO1    
20120907010 7153         European
19990316026 7158 A-G I-V MT-CO1 - -
19990316027 7175 T-C syn MT-CO1 - -
20100804476 7175 T-C syn MT-CO1    
20100804477 7184 A-G syn MT-CO1    
20100804478 7202 A-G syn MT-CO1    
20010828016 7220 T-C syn MT-CO1 Sporadic Parathyroid Adenoma -
20100804479 7220 T-C syn MT-CO1    
20100804480 7226 G-A syn MT-CO1    
20100804481 7241 A-G syn MT-CO1    
20100804482 7245 A-G T-A MT-CO1    
19990316028 7256 C-T syn MT-CO1 - -
20100804483 7256 C-T syn MT-CO1    
20100804484 7257 A-G I-V MT-CO1    
20100804485 7258 T-C I-T MT-CO1    
20100804486 7259 C-T syn MT-CO1    
20100804487 7269 G-A V-M MT-CO1    
20100804488 7270 T-C V-A MT-CO1    
19990316029 7274 C-T syn MT-CO1 - -
20100804489 7274 C-T syn MT-CO1    
20050813004 7278 T-C F-L MT-CO1 Normal Arabs
20100804490 7278 T-C F-L MT-CO1    
20110503017 7280 C-T syn MT-CO1 Congenital Non-syndromic Deafness  
20100804491 7298 A-G syn MT-CO1    
20100804492 7316 G-A syn MT-CO1    
20040317010 7322 A-G syn MT-CO1 Normal Saudi Arab
20100804493 7337 G-A syn MT-CO1    
20100804494 7340 G-A syn MT-CO1    
20100804495 7356 G-A V-M MT-CO1    
20040317002 7364 A-G syn MT-CO1 Normal Saudi Arab
20100804496 7364 A-G syn MT-CO1    
20080117002 7372 T-C M-T MT-CO1 Deafness Caucasian/Africain
20100804497 7379 G-A syn MT-CO1    
20110503018 7379 G-A syn MT-CO1 Congenital Non-syndromic Deafness  
20100804498 7385 A-G syn MT-CO1    
19990316030 7389 T-C Y-H MT-CO1 - -
20100804499 7389 T-C Y-H MT-CO1    
20100804500 7403 A-G syn MT-CO1    
20100804501 7424 A-G syn MT-CO1    
20100804502 7436 A-G syn MT-CO1    
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    
20120110004 7498       Cardiomyopathy Caucasian/Africain
20120110003 7502       Cardiomyopathy Caucasian/Africain
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
20100804508 7606 A-G syn MT-CO2    
20100804509 7624 T-C syn MT-CO2    
20100804510 7645 T-C syn MT-CO2    
20050809007 7646 A-C I-L MT-CO2 Normal Arabs
20100804511 7673 A-G I-V MT-CO2    
20100804512 7691 T-C F-L MT-CO2    
20100804513 7697 G-A V-I MT-CO2    
20041210003 7702 G-A syn MT-CO2 Oral Cancer Asian Indian-Marathi
20100804514 7705 T-C syn MT-CO2    
20040713008 7711 T-C syn MT-CO2 Esophageal Cancer Asian
20100804515 7711 T-C syn MT-CO2    
20100804516 7715 C-T syn MT-CO2    
20100906001 7717 A-G syn MT-CO2 Breast cancer  
20100804517 7721 C-T L-F MT-CO2    
20100804518 7729 A-G L-F MT-CO2    
20100804519 7735 A-G syn MT-CO2    
20100804520 7738 T-C syn MT-CO2    
20100804521 7741 T-C syn MT-CO2    
20111230006 7746 A-G N-S MT-CO2 non-syndromic hearing impairment Caucasian
20100804522 7754 G-A D-N MT-CO2    
20041210013 7762 G-A syn MT-CO2 Oral Cancer Asian Indian
20130303001 7762 G-A syn MT-CO2 Normal African
20110503019 7763 G-A E-K MT-CO2 Congenital Non-syndromic Deafness  
20100804523 7765 A-G syn MT-CO2    
20100804524 7768 A-G syn MT-CO2    
20100804525 7771 A-G syn MT-CO2    
20140721001 7771 A-G syn MT-CO2 Normal African
20100804526 7772 A-G T-A MT-CO2    
20060130003 7774 C-T syn MT-CO2 Encephalopathy Caucasian
20140721002 7775 A-G syn MT-CO2 Normal African
20100804527 7789 G-A syn MT-CO2    
20111230005 7792 C-T syn MT-CO2 non-syndromic hearing loss Caucasian
20120907016 7798         European
20100906002 7799 A-G I-V MT-CO2 Breast cancer  
20100804528 7805 G-A V-I MT-CO2    
20140721006 7805 G-A V-I MT-CO2 Normal African
20100906003 7806 T-A V-D MT-CO2 Breast cancer  
20100906004 7813 C-T syn MT-CO2 Breast cancer  
19990316031 7819 C-A syn MT-CO2 - -
20140721004 7819 C-A syn MT-CO2 Normal African
20100804529 7830 G-A R-H MT-CO2    
20041210007 7837 T-C syn MT-CO2 Oral Cancer Asian Indian-Marathi
20140721005 7837 T-C syn MT-CO2 Normal African
20041210004 7843 A-G syn MT-CO2 Oral Cancer Asian Indian-Marathi
20100804530 7849 C-T syn MT-CO2    
20100804531 7853 G-A V-I MT-CO2    
20140630002 7853 G-A V-I MT-CO2 Temporal lobe epilepsy with hippocampal sclerosis  
20140721007 7853 G-A V-I MT-CO2 Normal African
20100804532 7859 G-A D-N MT-CO2    
20050928001 7861 T-C syn MT-CO2 Encephalomyopathy Caucasian
20140721008 7861 T-C syn MT-CO2 Normal African
20060518007 7864 C-T syn MT-CO2 Epilepsy -
20100804533 7864 C-T syn MT-CO2    
20100804534 7867 C-T syn MT-CO2    
20110801008 7885 T-C syn MT-CO2 NORMAL ASIAN
20120124005 7894 A-G syn MT-CO2 Normal Indonesian
20100804535 7897 G-A syn MT-CO2    
20040713009 7910 G-C E-Q MT-CO2 Esophageal Cancer Asian
20040713012 7912 G-C E-D MT-CO2 Esophageal Cancer Asian
20140721009 7912 G-A syn MT-CO2 Normal African
20100804536 7941 A-G N-S MT-CO2    
20041210006 7954 T-C syn MT-CO2 Oral Cancer Asian Indian
20100804537 7960 A-C syn MT-CO2    
20040713004 7961 T-C syn MT-CO2 Oral Cancer Asian
20041210014 7961 T-C syn MT-CO2 Oral Cancer Asian Indian
20100804538 7961 T-C syn MT-CO2    
20010828017 7963 A-G syn MT-CO2 Sporadic Parathyroid Adenoma -
20100804539 7963 A-G syn MT-CO2    
20100804540 7972 A-G syn MT-CO2    
20100906005 7972 A-G syn MT-CO2 Breast cancer  
20140721010 7972 A-G syn MT-CO2 Normal African
20100804541 7978 C-G syn MT-CO2    
20140721011 7984 G-A syn MT-CO2 Normal African
20140214002 7989 T-C L-P (Leu135Pro) MT-CO2 control Caucasian
20041210012 7993 T-C syn MT-CO2 Oral Cancer Asian Indian
20041210008 7999 T-C syn MT-CO2 Oral Cancer Asian Indian-Marathi
20140721012 8007 G-A A-G MT-CO2 Normal African
20100804542 8014 A-T syn MT-CO2    
20140721013 8014 A-G syn MT-CO2 Normal African
20100906006 8017 C-T syn MT-CO2 Breast cancer  
20140721014 8017 C-A syn MT-CO2 Normal African
20100804543 8020 G-A syn MT-CO2    
20140721015 8020 G-A syn MT-CO2 Normal African
20100804544 8027 G-A A-T MT-CO2    
20140721016 8027 G-A A-T MT-CO2 Normal African
20120110006 8047       Cardiomyopathy Caucasian/Africain
20140721017 8047 T-C syn MT-CO2 Normal African
20100804545 8056 A-G syn MT-CO2    
20100804546 8059 C-T syn MT-CO2    
20100804547 8065 G-A syn MT-CO2    
20110704003 8078 G-A V-I MT-CO2 non-syndromic deafness  
20060518001 8084 A-T T-A MT-CO2 Myoclonic Epilepsy Caucasian
20100804548 8098 A-G syn MT-CO2    
20100804549 8104 T-C syn MT-CO2    
20140721018 8104 T-C syn MT-CO2 Normal African
20110503020 8115 G-A G-E MT-CO2 Congenital Non-syndromic Deafness  
20100804550 8119 T-C syn MT-CO2    
20041210005 8137 C-T syn MT-CO2 Oral Cancer Asian Indian-Muslim
20090129007 8137 C-T syn MT-CO2 COPD Caucasian
20100804551 8137 C-T syn MT-CO2    
20100804552 8149 A-G syn MT-CO2    
20140721019 8152 G-A syn MT-CO2 Normal African
20140721020 8155 G-A syn MT-CO2 Normal African
20041210001 8158 A-G syn MT-CO2 Oral Cancer Asian Indian-Bengali
20100804553 8158 A-G syn MT-CO2    
20100804554 8167 T-C syn MT-CO2    
20100804555 8185 T-C syn MT-CO2    
20100804556 8188 A-G syn MT-CO2    
20140721021 8188 G-A syn MT-CO2 Normal African
19990316032 8205 T-A M-K MT-CO2 - -
20041210010 8206 G-A syn MT-CO2 Oral Cancer Asian Indian
20100804557 8206 G-A syn MT-CO2    
20041210009 8212 C-T syn MT-CO2 Oral Cancer Asian Indian-Malayali
20070724010 8227 T-C syn MT-CO2 Leigh Syndrome Caucasian/Africain
20080110006 8227 T-C syn MT-CO2 Leigh syndrome Caucasian
20040608001 8236 A-G syn MT-CO2 Subfertile Caucasian
20131120001 8241 T-G F-C MT-CO2 DIABETES Caucasian/Africain
20100804558 8242 T-C syn MT-CO2    
20070724011 8248 A-G syn MT-CO2 Leigh Syndrome Caucasian/Africain
20100804559 8248 A-G syn MT-CO2    
20041210002 8251 G-A syn MT-CO2 Oral Cancer Asian Indian-Bengali
20100804560 8251 G-A syn MT-CO2    
20100804561 8258 T-C F-L MT-CO2    
20100804562 8260 T-C syn MT-CO2    
20100804563 8265 T-C L-P MT-CO2    
20041210011 8266 A-T syn MT-CO2 Oral Cancer Asian Indian-Gujarati
20100804564 8269 G-A syn MT-CO2    
20100804565 8270 C-T non-coding MT-NC7    
20040607001 8271 A-G non-coding MT-NC7 Subfertile -
20050813005 8271 A-G non-coding MT-NC7 Normal Arabs
20100804566 8273 C-T non-coding MT-NC7    
20100804567 8277 T-C non-coding MT-NC7    
20100804568 8278 C-A non-coding MT-NC7    
20100804569 8280 A-C non-coding MT-NC7    
20100804570 8281 C-G non-coding MT-NC7    
20100804571 8281 C-T non-coding MT-NC7    
20100804572 8286 T-C non-coding MT-NC7    
20100804573 8291 A-G non-coding MT-NC7    
20100804574 8292 G-A non-coding MT-NC7    
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
20120507001 8331          
20100804576 8347 A-G tRNA MT-TK    
20100804577 8348 A-G tRNA MT-TK    
20040608003 8350 A-G tRNA MT-TK - Caucasian
20070724012 8380 T-C syn MT-ATP8 Leigh Syndrome Caucasian/Africain
20100804578 8380 T-C syn MT-ATP8    
20040210011 8386 C-T syn MT-ATP8 NAION Arabs
20040608004 8388 T-C V-A MT-ATP8 - Caucasian
20100804579 8388 T-C V-A MT-ATP8    
20060518002 8389 A-G syn MT-ATP8 - Caucasian
20100804580 8392 G-A syn MT-ATP8    
20100804581 8393 C-T P-S MT-ATP8    
20110801009 8394 C-T P-L MT-ATP8 NORMAL ASIAN
20100804582 8395 C-T syn MT-ATP8    
20120404001 8399 A-G T-A MT-ATP8 disregulation of the metabolism of fatty acids Caucasian
20070724013 8411 A-G M-V MT-ATP8 Leigh Syndrome Caucasian/Africain
20100804583 8412 T-C M-T MT-ATP8    
20110504003 8413 A-G syn MT-ATP8 INFERTILITY Africain
20021231004 8414 C-T L-F MT-ATP8 MERRF Caucasian
20100804584 8426 T-C F-L MT-ATP8    
20021231005 8431 C-T S-L MT-ATP8 MERRF Caucasian
20100804585 8440 A-G syn MT-ATP8    
20100804586 8448 T-C M-T MT-ATP8    
20100804587 8455 C-T syn MT-ATP8    
20100804588 8458 A-G syn MT-ATP8    
20060803001 8463 A-G Y-C MT-ATP8 Down's syndrome Belarusian
20100804589 8468 C-T syn MT-ATP8    
20100804590 8473 T-C syn MT-ATP8    
20100804591 8485 G-A syn MT-ATP8    
20100804592 8501 A-G D-N MT-ATP8    
20100804593 8503 T-C syn MT-ATP8    
20100804594 8508 A-G N-S MT-ATP8    
20100804595 8512 A-G syn MT-ATP8    
19990308001 8519 G-A E-K MT-ATP8 MELAS plus other symptoms -
20100804596 8519 G-A E-K MT-ATP8    
20030723002 8527 A-G M-V MT-ATP6 Encephalomyopathy plus other symptoms Caucasian
20030723003 8527 A-G syn MT-ATP8 Encephalomyopathy plus other symptoms Caucasian
20071014001 8529 G-A W-Ter MT-ATP8 Apical HCM .
20071014002 8529 G-A syn MT-ATP6 . .
20060130006 8538 T-C syn MT-ATP6 Myopathy Caucasian
20060130007 8538 T-C I-T MT-ATP8 Myopathy Caucasian
20100804597 8538 T-C I-T MT-ATP8    
20100804598 8538 T-C syn MT-ATP6    
20160806002 8539 C-A ATP6: L-M, ATP8: I-M ATP8, ATP6 presbycusis Iranian
20100804599 8542 T-C syn MT-ATP8    
20100804600 8542 T-C F-L MT-ATP6    
20100804601 8545 G-A syn MT-ATP8    
20100804602 8545 G-A A-T MT-ATP6    
20100804603 8557 G-A syn MT-ATP8    
20100804604 8557 G-A A-T MT-ATP6    
20100804605 8558 C-T P-S MT-ATP8    
20100804606 8558 C-T A-V MT-ATP6    
20040210012 8559 C-T syn MT-ATP6 NAION Arabs
20040210026 8559 C-T P-L MT-ATP8 NAION Arabs
20100804607 8562 C-T P-L MT-ATP8    
20100804608 8562 C-T syn MT-ATP6    
20100804609 8563 A-G syn MT-ATP8    
20100804610 8563 A-G T-A MT-ATP6    
20050809008 8566 A-G syn MT-ATP8 Normal Arabs
20050809009 8566 A-G I-V MT-ATP6 Normal Arabs
20100804611 8568 C-A S-Y MT-ATP8    
20100804612 8568 C-A I-M MT-ATP6    
20060130004 8573 G-A G-D MT-ATP6 Encephalopathy Caucasian
20040210013 8577 A-G syn MT-ATP6 NAION Arabs
20100804613 8577 A-G syn MT-ATP6    
20100804614 8581 G-A A-T MT-ATP6    
19990308004 8584 G-A A-T MT-ATP6 DIDMOAD Asian
20050809010 8587 G-A V-M MT-ATP6 Normal Arabs
20100804615 8592 G-A syn MT-ATP6    
20050917001 8598 T-C syn MT-ATP6 Myoclonic Epilepsy Caucasian
20100804616 8598 T-C syn MT-ATP6    
20010828018 8602 T-C F-L MT-ATP6 Sporadic Parathyroid Adenoma -
20100804617 8602 T-C F-L MT-ATP6    
20100804618 8604 T-C syn MT-ATP6    
20100804619 8614 T-C syn MT-ATP6    
20100804620 8616 G-T L-F MT-ATP6    
20100804621 8618 T-C I-T MT-ATP6    
20100804622 8622 C-G syn MT-ATP6    
20100804623 8631 A-G syn MT-ATP6    
20100804624 8634 T-C syn MT-ATP6    
20100804625 8639 T-C I-T MT-ATP6    
20100804626 8645 A-G N-S MT-ATP6    
20100804627 8648 G-C R-P MT-ATP6    
20080117003 8649 A-G syn MT-ATP6 Deafness Caucasian/Africain
20120124006 8652 A-G syn MT-ATP6 Normal Indonesian
20120124007 8653 A-G syn MT-ATP6 Normal Indonesian
20100804628 8655 C-T syn MT-ATP6    
20100804629 8659 A-G T-A MT-ATP6    
20100804630 8674 A-G I-V MT-ATP6    
20080120004 8682 A-G syn MT-ATP6 Leigh-like syndrome Caucasian/Africain
20100729001 8682 A-G syn MT-ATP6 mitochondrial myopathy caucasienne
20160806003 8682 A-G sym ATP6 Presbycusis Iranian
20050809011 8684 C-T T-I MT-ATP6 Normal Arabs
20100804631 8684 C-T T-I MT-ATP6    
20100804632 8696 T-A M-K MT-ATP6    
20100804633 8697 G-A syn MT-ATP6    
20100804634 8698 A-G M-V MT-ATP6    
20050809012 8701 A-G T-A MT-ATP6 Normal Arabs
20100804635 8701 A-G T-A MT-ATP6    
20100804636 8703 C-T syn MT-ATP6    
20050609001 8705 T-C M-T MT-ATP6 Myopathy Caucasian
20100804637 8705 T-C M-T MT-ATP6    
20100804638 8706 A-G syn MT-ATP6    
20100804639 8721 A-G syn MT-ATP6    
20100804640 8736 T-C syn MT-ATP6    
20070327001 8741 T-G L-R MT-ATP6 Normal Arabs
20051007007 8750 T-C L-S MT-ATP6 Myopathy Caucasian
20140630014 8760 T-C syn MT-ATP6 Temporal lobe epilepsy with hippocampal sclerosis  
20100804641 8763 T-C syn MT-ATP6    
20100804642 8765 C-T A-V MT-ATP6    
20100804643 8772 T-C syn MT-ATP6    
20070327002 8795 A-G H-R MT-ATP6 Normal Arabs
20010828019 8812 A-G T-A MT-ATP6 Sporadic Parathyroid Adenoma -
20070327004 8816 A-G Q-R MT-ATP6 Leigh Syndrome Arabs
20100804644 8818 C-T syn MT-ATP6    
20100804645 8819 T-C L-P MT-ATP6    
20090710001 8820 A-G syn MT-ATP6 Infertility Caucasian
20100804646 8823 T-G syn MT-ATP6    
20110801011 8855 C-T A-V MT-ATP6 NORMAL ASIAN
19990316033 8857 G-T G-C MT-ATP6 - -
19991118001 8860 A-G T-A MT-ATP6 Subfertile Unknown
19991118002 8860 A-G T-A MT-ATP6 Control Unknown
19991118003 8860 A-G T-A MT-ATP6 Control Unknown
20080111001 8860 A-G T-A MT-ATP6 Abdominal Aortic Aneurysm Caucasian
20100804647 8860 A-G T-A MT-ATP6    
20090609002 8862 A-G syn MT-ATP6 Epilepsy Iranian
20040210014 8865 G-A syn MT-ATP6 NAION Arabs
20100804648 8865 G-A syn MT-ATP6    
20050916001 8867 T-C I-T MT-ATP6 Myoclonic Epilepsy, bilateral ptosis Caucasian
20050919033 8877 T-A F-L MT-ATP6 Normal Arabs
20100804649 8887 A-G I-V MT-ATP6    
20100804650 8895 T-A N-K MT-ATP6    
20051007003 8901 A-G syn MT-ATP6 Encephalomyopathy Caucasian
20120907013 8904         European
20100804651 8920 G-A G-S MT-ATP6    
20100804652 8931 A-G syn MT-ATP6    
19990316034 8932 C-T P-S MT-ATP6 - -
20030723001 8932 C-T P-S MT-ATP6 Encephalomyopathy plus other symptoms Caucasian
20100804653 8938 A-G I-V MT-ATP6    
20100804654 8945 T-C M-T MT-ATP6    
20100804655 8950 G-A V-I MT-ATP6    
20010828020 8953 A-G I-V MT-ATP6 Sporadic Parathyroid Adenoma -
20120907015 8954         European
20000825006 8957 T-C I-T MT-ATP6 Pancreatic Cancer Caucasian
20100804656 8962 A-G T-A MT-ATP6    
20100804657 8966 T-C I-T MT-ATP6    
20120418001 8969 G-A S-N MT-ATP6    
20100804658 8975 T-C L-P MT-ATP6    
20100804659 8982 A-G syn MT-ATP6    
20110503021 8985 A-G syn MT-ATP6 Congenital Non-syndromic Deafness  
20010828021 8987 A-G M-V MT-ATP6 Sporadic Parathyroid Adenoma -
20100804660 8993 T-G L-R MT-ATP6    
20100804661 8994 G-A syn MT-ATP6    
20100804662 9000 A-G syn MT-ATP6    
20100804663 9006 A-G syn MT-ATP6    
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    
20070327005 9012 T-G syn MT-ATP6 Leigh Syndrome Arabs
20100804665 9015 C-T syn MT-ATP6    
20100804666 9022 G-A A-T MT-ATP6    
20070327003 9024 A-G syn MT-ATP6 Normal Arabs
20100804667 9035 T-C L-P MT-ATP6    
20100804668 9039 G-A syn MT-ATP6    
20100804669 9041 A-G H-R MT-ATP6    
19990511001 9053 G-A syn MT-ATP6 Normal Chinese
19991118005 9055 G-A A-T MT-ATP6 Subfertile Unknown
20100804670 9055 G-A A-T MT-ATP6    
20100804671 9055 G-C A-P MT-ATP6    
20100804672 9056 C-T A-V MT-ATP6    
20080729001 9058 A-G T-A MT-ATP6 Normal Caucasian
20110503022 9061 C-T syn MT-ATP6 Congenital Non-syndromic Deafness  
20100804673 9064 G-A A-T MT-ATP6    
20100804674 9068 T-C M-T MT-ATP6    
20100804675 9070 T-G S-A MT-ATP6    
20100804676 9072 A-G syn MT-ATP6    
20100804677 9078 T-C syn MT-ATP6    
20100804678 9093 A-G syn MT-ATP6    
20100804679 9096 T-C syn MT-ATP6    
20100804680 9098 T-C I-T MT-ATP6    
20100804681 9099 C-A I-M MT-ATP6    
20100804682 9100 A-G I-V MT-ATP6    
20100804683 9101 T-G I-S MT-ATP6    
20070612004 9103 T-C F-L MT-ATP6 Normal Saudi Arabs
20100804684 9108 A-G syn MT-ATP6    
20070327006 9111 T-C syn MT-ATP6 Leigh Syndrome Arabs
20100804685 9115 A-G I-V MT-ATP6    
20100804686 9117 T-C syn MT-ATP6    
20100804687 9120 A-G syn MT-ATP6    
20100804688 9123 G-A syn MT-ATP6    
20100804689 9126 T-C syn MT-ATP6    
20100804690 9128 T-C I-T MT-ATP6    
20100804691 9129 C-T syn MT-ATP6    
20100804692 9139 G-A A-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    
20040811001 9152 T-C I-T MT-ATP6 - -
20040811002 9163 G-A V-I MT-ATP6 - -
20100804694 9165 T-C syn MT-ATP6    
20100804695 9181 A-G S-G MT-ATP6    
20040713013 9182 G-A S-N MT-ATP6 Esophageal Cancer Asian
20090714007 9186 C-A syn MT-ATP6 Aminoglycoside-induced hearing loss Caucasian
20100804696 9196 G-A D-N MT-ATP6    
20120907007 9203         European
20100804697 9214 A-G H-R MT-CO3    
20100804698 9221 A-G syn MT-CO3    
20100804699 9230 T-C syn MT-CO3    
20100804700 9233 T-C syn MT-CO3    
20090129008 9242 A-G syn MT-CO3 COPD Caucasian
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    
20100804702 9266 G-A syn MT-CO3    
20100804703 9275 A-G syn MT-CO3    
20100804704 9282 C-T syn MT-CO3    
20100804705 9287 G-A syn MT-CO3    
19990323002 9293 C-T syn MT-CO3 Ophthalmoplegia,Deafness Caucasian
20100804706 9296 C-T syn MT-CO3    
20100804707 9299 A-G syn MT-CO3    
20030925001 9300 G-A A-T MT-CO3 Myopathy Caucasian
20100804708 9300 G-A A-T MT-CO3    
20100804709 9301 C-T A-V MT-CO3    
20100804710 9316 T-A F-Y MT-CO3    
20100804711 9325 T-C M-T MT-CO3    
20080117004 9329 G-A syn MT-CO3 Deafness Caucasian/Africain
20080120001 9335 C-T syn MT-CO3 KSS Caucasian/Africain
20100804712 9335 C-A syn MT-CO3    
20050809013 9337 T-C M-T MT-CO3 Normal Arabs
20100804713 9337 T-C M-T MT-CO3    
20060518003 9338 A-G syn MT-CO3 Myopathy Caucasian
20100804714 9350 A-G syn MT-CO3    
20100804715 9351 A-C T-P MT-CO3    
20100804716 9365 C-T syn MT-CO3    
20100804717 9368 A-G syn MT-CO3    
19991118010 9377 G-A syn MT-CO3 Subfertile Unknown
20100804718 9377 A-G 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    
20100804720 9383 C-T syn MT-CO3    
20100804721 9389 A-G syn MT-CO3    
20100804722 9391 C-T T-M MT-CO3    
20100804723 9398 A-G syn MT-CO3    
20120110002 9404       Leigh Syndrome Caucasian/Africain
20021231011 9410 A-G syn MT-CO3 Myopathy Caucasian
20080414004 9425 A-G syn MT-CO3 Hypertrophic Cardiomyopathy Caucasian
20100804724 9425 A-G syn MT-CO3    
20010828022 9426 C-T P-S MT-CO3 Sporadic Parathyroid Adenoma -
20010828024 9426 C-T P-S MT-CO3 Sporadic Parathyroid Adenoma -
20070612005 9438 G-A G-S MT-CO3 Normal Saudi Arabs
20100804725 9438 G-A G-S MT-CO3    
20080117005 9467 T-C syn MT-CO3 Deafness Caucasian/Africain
20100804726 9469 C-T T-I MT-CO3    
19991118006 9477 G-A V-I MT-CO3 Control unknown
19991118007 9477 G-A V-I MT-CO3 Subfertile Unknown
20050919034 9477 G-A V-I MT-CO3 Normal Arabs
20100804727 9477 G-A V-I MT-CO3    
20080117006 9495 T-C F-L MT-CO3 Deafness Caucasian/Africain
20031029002 9509 T-C syn MT-CO3 LHON Arabs
20100804728 9521 C-T syn MT-CO3    
20100804729 9528 C-A P-T MT-CO3    
20030918003 9530 T-C syn MT-CO3 Liver Cancer Asian
20050809014 9539 A-T Q-H MT-CO3 Normal Arabs
20100804730 9540 T-C syn MT-CO3    
19990218008 9545 A-G syn MT-CO3 LHON Hispanic
20100804731 9545 A-G syn MT-CO3    
19991118008 9548 G-A syn MT-CO3 Subfertile unknown
20100804732 9548 G-A syn MT-CO3    
20100804733 9575 G-A syn MT-CO3    
20110801016 9581 T-C syn MT-CO3 Mild Hearing loss Asian
20090129009 9590 A-G syn MT-CO3 COPD Caucasian
20100804734 9591 G-A V-I MT-CO3    
20120110005 9605       Cardiomyopathy Caucasian/Africain
20080117007 9617 A-G syn MT-CO3 Deafness Caucasian/Africain
20070527003 9621 G-A A-T MT-CO3 Breast Cancer Caucasian
20040217002 9632 A-G syn MT-CO3 Encephalopathy, LHON Caucasian
20100804735 9632 A-G syn MT-CO3    
20110801012 9635 A-G syn MT-CO3 NORMAL ASIAN
20010828025 9656 T-C syn MT-CO3 Sporadic Parathyroid Adenoma -
20100804736 9656 T-C syn MT-CO3    
20100804737 9664 A-G E-G MT-CO3    
20100804738 9667 A-G N-S MT-CO3    
20100804739 9670 A-G N-S MT-CO3    
20050813018 9675 A-C N-H MT-CO3 Normal Arabs
20100804740 9682 T-C M-T MT-CO3    
20100804741 9693 C-T syn MT-CO3    
20100804742 9698 T-C syn MT-CO3    
20100804743 9704 A-T syn MT-CO3    
20100804744 9716 T-C syn MT-CO3    
20100804745 9725 T-C syn MT-CO3    
20140217003 9732 C-T L-L MT-CO3 sCJD Han Chinese
20100804746 9738 G-A A-T MT-CO3    
20100804747 9742 C-T S-L MT-CO3    
20100804748 9753 G-A E-K MT-CO3    
20100804749 9755 G-A syn MT-CO3    
20100804750 9761 C-T syn MT-CO3    
20140214008 9769 T-C I-T (Ile188Thr) MT-CO3 myasthenia gravis Caucasian
20100804751 9770 T-C syn MT-CO3    
20031029003 9794 A-G syn MT-CO3 LHON Arabs
20100804752 9800 T-C syn MT-CO3    
20100804753 9801 G-A V-M MT-CO3    
20100804754 9804 G-A A-T MT-CO3    
20090129010 9806 C-T syn MT-CO3 COPD Caucasian
20100804755 9809 A-C syn MT-CO3    
20100804756 9809 A-G syn MT-CO3    
20040912003 9822 C-T L-F MT-CO3 Normal Arabs
20100804757 9840 T-A S-T MT-CO3    
20100804758 9845 T-C syn MT-CO3    
20090129011 9869 C-G syn MT-CO3 COPD Caucasian
19991118011 9899 T-C syn MT-CO3 Control Unknown
20100804759 9899 T-C syn MT-CO3    
20100804760 9903 T-C F-L MT-CO3    
20100804761 9932 G-A syn MT-CO3    
20090129013 9933 C-A H-N MT-CO3 COPD Caucasian
20100804762 9938 T-C syn MT-CO3    
19991118012 9941 A-G syn MT-CO3 Subfertile Unknown
20100804763 9947 G-A syn MT-CO3    
20100804764 9948 G-A V-I MT-CO3    
20100804765 9962 G-A syn MT-CO3    
20100804766 9966 G-A V-I MT-CO3    
20140217004 9974 C-T I-I MT-CO3 sCJD Han Chinese
20100804767 9986 G-A syn MT-CO3    
20090129014 9987 T-A S-T MT-CO3 COPD Caucasian
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    
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 <