MITOMAP: Unpublished mtDNA Variants

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Point Mutations - includes benign & 'potentially pathogenic' variants

Details and Citation Position Nucleotide Change Amino Acid Change Locus / Gene Patient Group / Phenotype Ethnographic Info
20120112001 11          
20030528078 33 C-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20030529017 34 G-C noncod D-Loop Oral Cancer Asian Indian- Marathi
20030529018 43 C-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20030428001 47 G-A noncod D-Loop Normal Kazhakh
20030529043 48 C-G noncod D-Loop Oral Cancer Asian Indian
20030529001 53 G-T noncod D-Loop Oral Cancer Asian Indian- Bihari
20030528079 55 T-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528080 60 T-C noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528122 63 T-G noncod D-Loop Oral Cancer Asian Indian- Gujarati
20030528123 66 G-A noncod D-Loop Oral Cancer Asian Indian- Gujarati
20030527020 72 T-G noncod D-Loop Oral Cancer Asian Indian
20030527021 73 A-G noncod D-Loop Oral Cancer Asian Indian
20100908009 73 A-G noncod D-Loop Oral Submucous Fibrosis Asian-Bengali
20100822001 73 A-G noncod D-Loop Oral Cancer Indian- Bengali
20030528124 74 T-G noncod D-Loop Oral Cancer Asian Indian- Gujarati
20030428002 75 G-A noncod D-Loop Normal Kazhakh
20030529044 76 C-G noncod D-Loop Oral Cancer Asian Indian
20030529045 77 A-G noncod D-Loop Oral Cancer Asian Indian
20030529046 79 G-C noncod D-Loop Oral Cancer Asian Indian
20030528022 81 G-A noncod D-Loop Oral Cancer Asian Indian- Marathi
20030529047 81 G-C noncod D-Loop Oral Cancer Asian Indian
20030528023 85 G-C noncod D-Loop Oral Cancer Asian Indian- Marathi
20030529010 88 T-A noncod D-Loop Oral Cancer Asian Indian
20030528127 91 C-G noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030528024 94 G-A noncod D-Loop Oral Cancer Asian Indian- Marathi
20030529036 96 C-A noncod D-Loop Oral Cancer Asian Indian
20030528069 97 G-C noncod D-Loop Oral Cancer Asian Indian- Muslim
20030528070 98 C-T noncod D-Loop Oral Cancer Asian Indian- Muslim
20030528128 102 A-G noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030528129 103 G-A noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030528130 104 C-G noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030529019 105 C-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20030529037 108 A-G noncod D-Loop Oral Cancer Asian Indian
20030528025 109 G-A noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528131 114 C-T noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030529011 119 T-G noncod D-Loop Oral Cancer Asian Indian
20030529048 121 G-C noncod D-Loop Oral Cancer Asian Indian
20030528132 122 C-G noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030528151 124 G-A noncod D-Loop Oral Cancer Asian Indian
20030528133 125 T-G noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030527003 125 T-A noncod D-Loop Oral Cancer Asian Indian- Gujarati
20000211004 125 T-G noncod D-Loop - Chinese
20021231006 126 T-C noncod D-Loop Normal Madia Gond tribe
20091019002 129 T-C noncod D-Loop Normal Malay
20030528026 131 T-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20030527022 131 T-C noncod D-Loop Oral Cancer Asian Indian
20030528027 135 T-G noncod D-Loop Oral Cancer Asian Indian
20030529038 136 G-A noncod D-Loop Oral Cancer Asian Indian
20030528134 142 T-C noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030529039 143 G-A noncod D-Loop Oral Cancer Asian Indian
20030528135 144 C-G noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030916001 146 T-A noncod D-Loop Liver Cancer Asian
20010303003 147 C-T noncod D-Loop Breast Cancer Caucasian
20030527005 150 C-T noncod D-Loop Oral Cancer Asian Indian
20030528030 151 C-T noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528031 152 T-C noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528028 152 T-A noncod D-Loop Oral Cancer Asian Indian- Marathi
20030527025 154 T-A noncod D-Loop Oral Cancer Asian Indian
20030529040 155 T-A noncod D-Loop Oral Cancer Asian Indian
20030529029 157 T-A noncod D-Loop Oral Cancer Asian India
20030529020 159 T-A noncod D-Loop Oral Cancer Asian Indian- Marathi
20030529030 162 C-G noncod D-Loop Oral Cancer Asian Indian
20021231007 163 A-G noncod D-Loop Normal Madia Gond tribe
20030529004 164 C-A noncod D-Loop Oral Cancer Asian Indian- Bihari
20030528154 164 C-G noncod D-Loop Oral Cancer Asian Indian
20030528029 165 A-C noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528136 172 T-G noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030529032 173 T-C noncod D-Loop Oral Cancer Asian Indian
20030528118 174 C-A noncod D-Loop Oral Cancer Asian Indian- Malayali
20030528119 178 A-T noncod D-Loop Oral Cancer Asian Indian- Malayali
20030527035 178 A-G noncod D-Loop Oral Cancer Asian Indian- Bengali
20030529013 180 T-A noncod D-Loop Oral Cancer Asian Indian
20021231008 186 C-T noncod D-Loop Normal Madia Gond tribe
20030529023 186 C-G noncod D-Loop 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
20030528033 193 A-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528054 195 T-C noncod D-Loop Oral Cancer Asian Indian- Marathi
20000211002 195 T-A noncod D-Loop - Indian
20030527006 204 T-G noncod D-Loop Oral Cancer Asian Indian- Gujarati
20030527027 204 T-C noncod D-Loop Oral Cancer Asian Indian
20030527007 206 T-G noncod D-Loop Oral Cancer Asian Indian- Gujarati
20030527008 209 T-A noncod D-Loop Oral Cancer Asian Indian- Gujarati
19990218005 216 T-C noncod D-Loop Hearing Loss Caucasian
20070527004 220 T-A noncod D-Loop Breast Cancer Caucasian
20030527010 224 T-G noncod D-Loop Oral Cancer Asian Indian- Gujarati
20030528056 226 T-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20030527037 227 A-C noncod D-Loop Oral Cancer Asian Indian
20030527038 228 G-C noncod D-Loop Oral Cancer Asian Indian- Bengali
20030528057 229 G-A noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528058 231 C-A noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528035 237 A-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528036 238 A-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20030527039 238 A-T noncod D-Loop Oral Cancer Asian Indian- Bengali
20030527040 239 T-G noncod D-Loop Oral Cancer Asian Indian- Bengali
20000211003 246 T-C noncod D-Loop - Indian
20040720001 251 G-A noncod D-Loop Breast Cancer Asian
20040713010 251 G-A noncod D-Loop Esophageal Cancer Asian
20010424001 253 C-A noncod D-Loop Sporadic Parathyroid Adenoma -
20030528037 257 A-T noncod D-Loop Oral Cancer Asian Indian- Marathi
20030916002 259 A-G noncod D-Loop Liver Cancer Asian
20040720002 260 G-A noncod D-Loop Breast Cancer Asian
20030528085 260 G-C noncod D-Loop Oral Cancer Asian Indian- Muslim
20050106002 262 C-T noncod D-Loop Normal Caucasian
20030528086 263 A-G noncod D-Loop Oral Cancer Asian Indian- Muslim
20030528001 263 A-C noncod D-Loop Oral Cancer Asian Indian- Bengali
20101227001 263 A-G noncod D-Loop Oral cancer Asian-Bengali
20030528002 264 C-G noncod D-Loop Oral Cancer Asian Indian- Bengali
20030528003 265 T-C noncod D-Loop Oral Cancer Asian Indian- Bengali
20060605005 267 T-C noncod D-Loop Normal Indigenous Jehai
20030528004 268 C-G noncod D-Loop Oral Cancer Asian Indian- Bengali
20050106003 269 C-T noncod D-Loop Normal Caucasian
20030528005 271 C-G noncod D-Loop Oral Cancer Asian Indian- Bengali
20030528087 271 C-A noncod D-Loop Oral Cancer Asian Indian- Muslim
20030528006 273 C-A noncod D-Loop Oral Cancer Asian Indian- Bengali
20030528007 283 A-T noncod D-Loop Oral Cancer Asian Indian- Bengali
20030528008 284 A-T noncod D-Loop Oral Cancer Asian Indian- Bengali
20010828002 285 C-T noncod D-Loop Sporadic Parathyroid Adenoma -
20030528009 287 A-T noncod D-Loop Oral Cancer Asian Indian- Bengali
20030528010 288 A-T noncod D-Loop Oral Cancer Asian Indian- Bengali
20040327001 288 A-G noncod D-Loop Pancreatic Ductal Adenocarcinoma Caucasian
20021231010 294 T-C noncod D-Loop Normal Madia Gond tribe
20050106004 295 C-A noncod D-Loop Normal Caucasian
20050106005 324 C-T noncod D-Loop Normal Caucasian
20000211005 329 G-A noncod D-Loop - Malay
19990218006 340 C-T noncod D-Loop Hearing Loss Caucasian
20100905001 366 G-A noncod D-Loop Oral squamous cell carcinoma  
20091006002 447 C-G noncod D-Loop Normal Kedah Malays
20000915002 447 C-G noncod D-Loop - Punjabi
20000914001 463 C-T noncod D-Loop - -
20000211009 469 C-A noncod D-Loop - Punjabi
20050419001 480 T-C noncod D-Loop LHON Caucasian
20040713011 481 C-T noncod D-Loop Esophageal Cancer Asian
20040720003 481 C-T noncod D-Loop Breast Cancer Asian
20000211001 482 T-C noncod D-Loop - Indian
20000914002 485 T-C noncod D-Loop - Indian
20050106007 489 T-G noncod D-Loop Normal Caucasian
20101227002 489 T-C noncod D-Loop Oral cancer Asian-Bengali
20030916003 504 T-C noncod D-Loop Liver Cancer Asian
20021231001 512 A-G noncod D-Loop Leigh Syndrome Caucasian
20040720004 530 C-T noncod D-Loop Breast Cancer Asian
20040720005 556 A-T noncod D-Loop Breast Cancer Asian
20000914003 560 C-T noncod D-Loop - Kadazan-Dusun
20040720006 570 C-A noncod D-Loop Breast Cancer Asian
20110302001 571 C-A noncod MT-DLOOP complex I deficiency  
20040720007 574 A-C noncod D-Loop Breast Cancer Asian
20040720008 576 A-C noncod D-Loop Breast Cancer Asian
20090604001 581 A-C noncod MT-TF DIABETES Africain/caucasian
20040720009 593 T-C noncod MT-TF Breast Cancer Asian
20100804001 596 T-C noncod MT-TF    
20100804002 629 T-C noncod MT-TF    
20110302002 634 T-C noncod MT-TF combined complex I+IV deficiency, epilepsia, muscle hypotonia, mental retardation  
20100804003 648 A-G noncod MT-TF    
20120119001 650 T-C Noncod MT-TF normal Indonesian
20100804004 669 T-C noncod MT-TF    
20071219001 689 T-C noncod MT-RNR1 Normal Caucasian
20100804005 709 G-A noncod MT-RNR1    
19990316006 711 T-C noncod MT-RNR1 - -
20111230001 712 C-A noncod MT-RNR1 non-syndromic hearing impairment Caucasian
20110302003 719 G-A noncod MT-RNR1 combined complex I + IV deficiency  
20110503001 720 T-C noncod MT-RNR1 Congenital Non-syndromic Deafness  
20050919001 722 C-G noncod MT-RNR1 Normal Arabs
20050919002 723 A-G noncod MT-RNR1 Normal Arabs
20050308004 735 A-G noncod MT-RNR1 Deafness Africain
20110302004 739 C-T noncod MT-RNR1 combined complex I+IV defiency  
20050308003 742 T-C noncod MT-RNR1 Normal Africain
20100804006 745 A-G noncod MT-RNR1    
20100804007 747 A-G noncod MT-RNR1    
20100804008 750 A-G noncod MT-RNR1    
20100804009 751 A-C noncod MT-RNR1    
20100804010 751 A-G noncod MT-RNR1    
20071219002 751 A-G noncod MT-RNR1 Normal Caucasian
20100804011 769 G-A noncod MT-RNR1    
20111230002 786 G-A noncod MT-RNR1 progressive non syndromic hearing loss Caucasian
20050308005 794 T-A noncod MT-RNR1 Deafness Africain
20050313001 813 A-G noncod MT-RNR1 Deafness Africain
20100804012 813 A-G noncod MT-RNR1    
20100804013 825 T-A noncod MT-RNR1    
20100804014 827 A-G noncod MT-RNR1    
20050919003 827 A-G noncod MT-RNR1 Normal Arabs
20050308002 868 C-T noncod MT-RNR1 Normal Africain
20100804015 896 A-G noncod MT-RNR1    
20081112001 930 G-C noncod MT-RNR1 Normal Yakut
20100804016 930 G-A noncod MT-RNR1    
20100804017 951 G-A noncod MT-RNR1    
20100804018 953 T-C noncod MT-RNR1    
20050308001 954 C-T noncod MT-RNR1 Normal Africain
20100804019 957 C-G noncod MT-RNR1    
20110503002 960 C-A noncod MT-RNR1 Congenital Non-syndromic Deafness  
20060913001 961 T-A noncod MT-RNR1 Deafness Russian
20100804021 961 T-G noncod MT-RNR1    
20100804020 961 T-C noncod MT-RNR1    
20100804022 962 C-G noncod MT-RNR1    
20100804023 980 T-C noncod MT-RNR1    
20010828003 1007 G-A noncod MT-RNR1 Sporadic Parathyroid Adenoma -
20100804024 1007 G-A noncod MT-RNR1    
20100804025 1008 A-G noncod MT-RNR1    
20110302005 1009 C-T noncod MT-RNR1 combined complex I + IV defiency  
20110302015 1011 C-A noncod MT-RNR1 combined complex I + IV deficiency  
20100804026 1018 G-A noncod MT-RNR1    
20050919004 1018 G-A noncod MT-RNR1 Normal Arabs
20070709001 1027 A-G noncod MT-RNR1 Control Altaian
20100804027 1053 A-G noncod MT-RNR1    
20100804028 1119 T-C noncod MT-RNR1    
20100804029 1189 T-C noncod MT-RNR1    
20050919005 1189 T-C noncod MT-RNR1 Normal Arabs
20100804030 1193 T-C noncod MT-RNR1    
20100804031 1243 T-C noncod MT-RNR1    
20050919006 1245 T-G noncod MT-RNR1 Normal Arabs
20100804032 1284 T-C noncod MT-RNR1    
20110302016 1386 T-C noncod MT-RNR1 combined complex I + IV deficiency  
20100804033 1391 T-C noncod MT-RNR1    
20101129003 1406 T-C noncod MT-RNR1 Nonsyndromic Hearing Loss Turkish
20100804034 1406 T-C noncod MT-RNR1    
20100804035 1435 A-T noncod MT-RNR1    
20100804036 1438 A-G noncod MT-RNR1    
20091029001 1453 A-G noncod MT-RNR1 Hearing loss Caucasian
20081105001 1453 A-G noncod MT-RNR1 Non-Syndromic Hearing Impairment (NSHI) Hindu
20110503003 1462 G-T noncod MT-RNR1 Congenital Non-syndromic Deafness  
20100804037 1462 G-A noncod MT-RNR1    
20081106001 1462 G-A noncod MT-RNR1 Non-Syndromic Hearing Impairment (NSHI) Hindu
19990308002 1462 G-A noncod MT-RNR1 Diabetes/Deafness -
20100804038 1503 G-A noncod MT-RNR1    
20081106002 1508 C-T noncod MT-RNR1 Non-Syndromic Hearing Impairment (NSHI) Hindu
20100804039 1530 A-G noncod MT-RNR1    
20100804040 1537 C-T noncod MT-RNR1    
20071219004 1556 C-T noncod MT-RNR1 Normal Caucasian
20101129001 1556 C-T noncod MT-RNR1 Nonsyndromic Hearing Loss Turkish
20070709002 1557 A-C noncod MT-RNR1 Deafness Russian
20100804041 1598 G-A noncod MT-RNR1    
20110302021 1607 T-C noncod MT-TV complex I deficiency  
20101005001 1640 A-G noncod MT-TV MELAS , mitochondrial diabetes, bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, Africain
20100804042 1664 G-A noncod MT-TV    
20100804043 1676 A-G noncod MT-RNR2    
20110302006 1692 A-T noncod MT-RNR2 combined complex I + IV deficiency  
20100804044 1700 T-C noncod MT-RNR2    
20041220011 1700 T-C noncod MT-RNR2 Oral Cancer Asian Indian
20010828004 1700 T-C noncod MT-RNR2 Sporadic Parathyroid Adenoma -
20010301006 1703 C-T noncod MT-RNR2 Breast Cancer Caucasian
20060130005 1703 C-T noncod MT-RNR2 Mental Retardation Caucasian
20100804045 1709 G-A noncod MT-RNR2    
20100804046 1711 C-T noncod MT-RNR2    
20041220007 1713 C-T noncod MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220008 1713 A-G noncod MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220009 1715 C-T noncod MT-RNR2 Oral Cancer Asian Indian-Marathi
20100804047 1719 G-A noncod MT-RNR2    
20041220005 1719 G-A noncod MT-RNR2 Oral Cancer Asian Indian-Muslim
20100804048 1720 C-T noncod MT-RNR2    
20100804049 1721 C-T noncod MT-RNR2    
20050919007 1721 C-T noncod MT-RNR2 Normal Arabs
20100804050 1738 T-C noncod MT-RNR2    
20110302022 1767 G-A noncod MT-RNR2 complex I deficiency  
20041220002 1780 T-C noncod MT-RNR2 Oral Cancer Asian Indian
20100804051 1806 T-C noncod MT-RNR2    
20041220013 1811 A-G noncod MT-RNR2 Oral Cancer Asian Indian-Gujarati
20041220004 1811 A-G noncod MT-RNR2 Oral Cancer Asian Indian-Muslim
20100804052 1811 A-G noncod MT-RNR2    
20050919008 1811 A-G noncod MT-RNR2 Normal Arabs
20100804053 1812 C-G noncod MT-RNR2    
20100804054 1813 C-G noncod MT-RNR2    
20100804055 1824 T-C noncod MT-RNR2    
20100804056 1834 T-C noncod MT-RNR2    
20050919009 1837 C-A noncod MT-RNR2 Normal Arabs
20100804057 1842 A-G noncod MT-RNR2    
20070207001 1843 T-C noncod MT-RNR1 Centenarian Caucasian
20050919010 1845 C-A noncod MT-RNR2 Normal Arabs
20100804058 1850 T-C noncod MT-RNR2    
20110302018 1886 G-A noncod MT-RNR2 combined complex I + IV deficiency, Mitochondrial Myopathy  
20100804059 1888 G-A noncod MT-RNR2    
20100804060 1900 A-G noncod MT-RNR2    
20070207002 1940 A-G noncod MT-RNR1 Centenarian Caucasian
20110302007 1943 A-G noncod MT-RNR2 complex I deficiency  
20100804061 1977 T-C noncod MT-RNR2    
20110503004 1978 A-C noncod MT-RNR2 Congenital Non-syndromic Deafness  
20100804063 2060 A-G noncod MT-RNR2    
20100804062 2060 A-C noncod MT-RNR2    
20100804064 2098 G-A noncod MT-RNR2    
20100804065 2141 T-C noncod MT-RNR2    
20100804066 2158 T-C noncod MT-RNR2    
20100804067 2217 C-T noncod MT-RNR2    
20010828005 2218 C-T noncod MT-RNR2 Sporadic Parathyroid Adenoma -
20100804068 2225 C-T noncod MT-RNR2    
20110302019 2239 A-G noncod MT-RNR2 combined complex I + IV deficiency  
20100804069 2245 A-G noncod MT-RNR2    
20100804070 2246 A-G noncod MT-RNR2    
20100804071 2251 A-G noncod MT-RNR2    
20100804072 2259 C-T noncod MT-RNR2    
20100804073 2264 A-G noncod MT-RNR2    
20100804074 2272 C-T noncod MT-RNR2    
20100804075 2280 C-T noncod MT-RNR2    
20100804076 2282 C-T noncod MT-RNR2    
20100804077 2283 C-T noncod MT-RNR2    
20100804078 2294 A-G noncod MT-RNR2    
20110302008 2294 A-G noncod MT-RNR2 combined complex I + IV deficiency  
20100804079 2308 A-G noncod MT-RNR2    
20100804080 2352 T-C noncod MT-RNR2    
20050919011 2355 A-G noncod MT-RNR2 Normal Arabs
20110302009 2358 A-G noncod MT-RNR2 complex I deficiency  
20100804081 2361 G-A noncod MT-RNR2    
20041220014 2361 G-A noncod MT-RNR2 Oral Cancer Asian Indian-Marathi
20100804082 2387 T-C noncod MT-RNR2    
20100804083 2395 A-C noncod MT-RNR2    
20100804084 2395 A-G noncod MT-RNR2    
20041220016 2396 C-T noncod MT-RNR2 Oral Cancer Asian Indian
20100804085 2416 T-C noncod MT-RNR2    
20100804086 2417 C-G noncod MT-RNR2    
20050919012 2442 T-C noncod MT-RNR2 Normal Arabs
20100804087 2442 T-C noncod MT-RNR2    
20050919013 2451 A-C noncod MT-RNR2 Normal Arabs
20100804088 2483 T-C noncod MT-RNR2    
20050919014 2505 A-C noncod MT-RNR2 Normal Arabs
20100804089 2581 A-G noncod MT-RNR2    
20100804090 2607 T-A noncod MT-RNR2    
20070207003 2623 A-G noncod MT-RNR1 Centenarian Caucasian
20041220003 2644 A-G noncod MT-RNR2 Oral Cancer Asian Indian-Marathi
20100804091 2702 G-A noncod MT-RNR2    
20100804092 2706 A-G noncod MT-RNR2    
20050919015 2706 A-G noncod MT-RNR2 Normal Arabs
20041220001 2706 A-G noncod MT-RNR2 Oral Cancer Asian Indian - Gujarati
20100804093 2707 A-G noncod MT-RNR2    
20041220006 2715 A-G noncod MT-RNR2 Oral Cancer Asian Indian-Gujarati
20110302010 2755 A-G noncod MT-RNR2 complex I deficiency  
20100804094 2755 A-G noncod MT-RNR2    
20100804095 2757 A-G noncod MT-RNR2    
20100804096 2758 G-A noncod MT-RNR2    
20100804097 2768 A-G noncod MT-RNR2    
20100804098 2772 C-T noncod MT-RNR2    
20100804099 2775 A-G noncod MT-RNR2    
20100804100 2789 C-T noncod MT-RNR2    
20100804101 2792 A-G noncod MT-RNR2    
20100804102 2831 G-A noncod MT-RNR2    
20100804103 2833 A-G noncod MT-RNR2    
20100804104 2838 A-C noncod MT-RNR2    
20100804105 2850 T-C noncod MT-RNR2    
20100804106 2873 A-G noncod MT-RNR2    
20100804107 2885 T-C noncod MT-RNR2    
20100804108 2955 T-C noncod MT-RNR2    
20100804109 3010 G-A noncod MT-RNR2    
20100804110 3027 T-C noncod MT-RNR2    
20100804111 3083 T-C noncod MT-RNR2    
20100804112 3105 A-G noncod MT-RNR2    
20100804113 3116 C-T noncod MT-RNR2    
20041220015 3116 C-T noncod MT-RNR2 Oral Cancer Asian Indian-Marathi
19990316007 3116 C-T noncod MT-RNR2 - -
20010828006 3160 A-T noncod MT-RNR2 Sporadic Parathyroid Adenoma -
20100804114 3173 G-A noncod MT-RNR2    
19990316008 3184 C-T noncod MT-RNR2 - -
20041220012 3197 T-C noncod MT-RNR2 Oral Cancer Asian Indian
19990308003 3197 T-C noncod MT-RNR2 Encephalopathy Cardiomyopathy Mennonite
20110314001 3197 T-C noncod MT-RNR2 LHON Caucasion
20100804115 3197 T-C noncod MT-RNR2    
20100804116 3202 T-C noncod MT-RNR2    
20100804117 3203 A-C noncod MT-RNR2    
20100804118 3204 C-G noncod MT-RNR2    
20100804119 3204 C-T noncod MT-RNR2    
20021231003 3206 C-T noncod MT-RNR2 MELAS Caucasian
20100804120 3207 A-C noncod MT-RNR2    
20100804121 3212 C-T noncod MT-RNR2    
20111230003 3213 A-G noncod MT-RNR2 non-syndromic hearing loss  
20041220017 3220 A-G noncod MT-RNR2 Oral Cancer Asian Indian
20051007006 3221 A-G noncod MT-RNR2 - Caucasian
20100804122 3221 A-G noncod MT-RNR2    
20030912001 3242 G-A noncod MT-TL1 Myelodysplastic Syndrome (MDS) Caucasian
20100804123 3254 C-A noncod MT-TL1    
20111212002 3298 C-G noncod MT-TL1 normal Africain
20100804124 3308 T-C M-T MT-ND1    
20100804125 3316 G-A A-T MT-ND1    
20101129004 3316 G-A A-T MT-ND1 Nonsyndromic Hearing Loss FARS
20090315002 3316 G-A A-T MT-ND1 Uterine Leiomyomas Asian Indian
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
20100804133 3397 A-G M-V MT-ND1    
20070208002 3397 A-G M-V MT-ND1 Type 2 Diabetes Mellitus Ashkenazi Jew
20010828007 3397 A-G M-V MT-ND1 Sporadic Parathyroid Adenoma -
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       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  
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    
20100804148 3547 A-G I-V MT-ND1    
20000825002 3547 A-G I-V MT-ND1 Pancreatic Cancer Caucasian
20100804149 3552 T-C syn MT-ND1    
19990218007 3552 T-A syn MT-ND1 LHON Hispanic
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 - -
20100804152 3594 C-T syn MT-ND1    
20040210002 3594 C-T syn MT-ND1 NAION Arabs
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
20100804153 3645 T-C syn MT-ND1    
20031029001 3645 T-C syn MT-ND1 LHON Arabs
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    
20100804164 3741 C-T syn MT-ND1    
20020410001 3741 C-T syn MT-ND1 MELAS Caucasian
20020409001 3741 C-T syn MT-ND1 MELAS Caucasian
20100804165 3747 C-T syn MT-ND1    
20100804166 3753 T-C syn MT-ND1    
20100804167 3756 A-G syn MT-ND1    
20091229002 3756 A-G syn MT-ND1 Breast Cancer Africain
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
20100804175 3847 T-C syn MT-ND1    
20050919016 3847 T-C syn MT-ND1 Normal Arabs
20040210005 3847 T-C syn MT-ND1 NAION Arabs
20100804176 3849 G-A syn MT-ND1    
20100804177 3861 A-G syn MT-ND1    
20100519001 3861 A-G syn MT-ND1 Leigh Syndrome Caucasian/Africain
20100804178 3866 T-G I-S MT-ND1    
20050809001 3866 T-C I-T MT-ND1 Normal Arabs
20120124001 3873 A-G syn MT-ND1 Normal Indonesian
20100804179 3874 C-T syn MT-ND1    
20100804180 3882 G-A syn MT-ND1    
20110503012 3894 C-T syn MT-ND1 Congenital Non-syndromic Deafness  
20100804181 3895 C-A P-T MT-ND1    
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    
20100804184 3969 C-T syn MT-ND1    
20100804185 3990 C-T syn MT-ND1    
20100804186 3992 C-T T-M MT-ND1    
20000825009 3992 C-T T-M MT-ND1 Pancreatic Cancer Caucasian
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    
20100804190 4012 A-G T-A MT-ND1    
20050813001 4012 A-G T-A MT-ND1 Normal Arabs
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    
20100804193 4021 A-G T-A MT-ND1    
20010303006 4021 A-G T-A MT-ND1 Breast Cancer Caucasian
20100804194 4024 A-G T-A MT-ND1    
20000825010 4024 A-G T-A MT-ND1 Pancreatic Cancer Caucasian
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    
20040210008 4104 A-G syn MT-ND1 NAION Arabs
20100804205 4104 A-G syn MT-ND1    
19990316012 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    
20100804214 4203 A-G syn MT-ND1    
20040317003 4203 A-G syn MT-ND1 Normal Saudi Arab
20040317011 4204 T-C syn MT-ND1 Normal Saudi Arab
20061030001 4206 A-G syn MT-ND1 Control south African Mixed Ancestry
20050813014 4216 T-C Y-H MT-ND1 Normal Arabs
20100804215 4216 T-C Y-H MT-ND1    
20010828010 4216 T-C Y-H MT-ND1 Sporadic Parathyroid Adenoma -
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 noncod MT-TI    
20110704002 4295 A-G noncod MT-TI non-syndromic deafness  
20100804220 4295 A-G noncod MT-TI    
20050318001 4310 A-G noncod MT-TI - Caucasian
20100804221 4310 A-G noncod 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 noncod MT-TI Cardiomyopathy and hearing-loss Caucasian/Africain
20100804222 4317 A-G noncod MT-TI    
20100804223 4336 T-C noncod MT-TQ    
20070612001 4363 T-C noncod MT-TQ Normal Saudi Arabs
20100804224 4363 T-C noncod MT-TQ    
20100804225 4388 A-G noncod MT-TQ    
20100804226 4395 A-G noncod MT-TQ    
20081202001 4395 A-G noncod MT-TQ cardiomyopathy Afrique
20100804227 4401 A-T noncod MT-NC2    
20010828011 4418 T-C noncod MT-TM Sporadic Parathyroid Adenoma -
20100804228 4418 T-C noncod MT-TM    
20100804229 4435 A-G noncod MT-TM    
20100804230 4454 T-C noncod 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    
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
20100804237 4577 C-T syn MT-ND2    
20100804238 4580 G-A syn MT-ND2    
20100804239 4589 T-C syn MT-ND2    
20091229006 4598 T-C syn MT-ND2 Breast Cancer African, Amerindian
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
20100804261 4769 A-G syn MT-ND2    
20050919017 4769 A-G syn MT-ND2 Normal Arabs
20100804262 4770 G-T A-S MT-ND2    
20100804263 4772 T-C syn MT-ND2    
20100804264 4774 T-C M-T MT-ND2    
20100804265 4790 A-G syn MT-ND2    
20100804266 4793 A-G syn MT-ND2    
20000825014 4793 A-G syn MT-ND2 Pancreatic Cancer Caucasian
20100804267 4811 A-G syn MT-ND2    
20100804268 4812 G-C V-L MT-ND2    
20100804269 4817 A-G syn MT-ND2    
20100804270 4820 G-A syn MT-ND2    
20000825003 4820 G-A syn MT-ND2 Pancreatic Cancer Caucasian
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