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MITOMAP: Unpublished mtDNA Variants {ARCHIVED, no longer updated}

Also see the submission index

Point Mutations - includes benign & 'potentially pathogenic' variants

Details and Citation Position Nucleotide Change Amino Acid Change Locus / Gene Patient Group / Phenotype Ethnographic InfoSorted ascending
20140630016 72 T-A non-coding Control Region Glioma  
20140214019 183 A-G non-coding Control Region    
20100905001 366 G-A non-coding Control Region Oral squamous cell carcinoma  
20130520003 526 G-A non-coding Control Region    
20100804001 596 T-C tRNA MT-TF    
20100804002 629 T-C tRNA MT-TF    
20110302002 634 T-C tRNA MT-TF combined complex I+IV deficiency, epilepsia, muscle hypotonia, mental retardation  
20100804003 648 A-G tRNA MT-TF    
20100804004 669 T-C tRNA MT-TF    
20100804005 709 G-A rRNA MT-RNR1    
20110302003 719 G-A rRNA MT-RNR1 combined complex I + IV deficiency  
20110503001 720 T-C rRNA MT-RNR1 Congenital Non-syndromic Deafness  
20110302004 739 C-T rRNA MT-RNR1 combined complex I+IV defiency  
20100804006 745 A-G rRNA MT-RNR1    
20100804007 747 A-G rRNA MT-RNR1    
20100804008 750 A-G rRNA MT-RNR1    
20100804009 751 A-C rRNA MT-RNR1    
20100804010 751 A-G rRNA MT-RNR1    
20100804011 769 G-A rRNA MT-RNR1    
20100804012 813 A-G rRNA MT-RNR1    
20100804013 825 T-A rRNA MT-RNR1    
20100804014 827 A-G rRNA MT-RNR1    
20100804015 896 A-G rRNA MT-RNR1    
20100804016 930 G-A rRNA MT-RNR1    
20100804017 951 G-A rRNA MT-RNR1    
20100804018 953 T-C rRNA MT-RNR1    
20100804019 957 C-G rRNA MT-RNR1    
20110503002 960 C-A rRNA MT-RNR1 Congenital Non-syndromic Deafness  
20100804020 961 T-C rRNA MT-RNR1    
20100804021 961 T-G rRNA MT-RNR1    
20100804022 962 C-G rRNA MT-RNR1    
20100804023 980 T-C rRNA MT-RNR1    
20100804024 1007 G-A rRNA MT-RNR1    
20100804025 1008 A-G rRNA MT-RNR1    
20110302005 1009 C-T rRNA MT-RNR1 combined complex I + IV defiency  
20110302015 1011 C-A rRNA MT-RNR1 combined complex I + IV deficiency  
20100804026 1018 G-A rRNA MT-RNR1    
20100804027 1053 A-G rRNA MT-RNR1    
20100804028 1119 T-C rRNA MT-RNR1    
20100804029 1189 T-C rRNA MT-RNR1    
20100804030 1193 T-C rRNA MT-RNR1    
20100804031 1243 T-C rRNA MT-RNR1    
20100804032 1284 T-C rRNA MT-RNR1    
20110302016 1386 T-C rRNA MT-RNR1 combined complex I + IV deficiency  
20100804033 1391 T-C rRNA MT-RNR1    
20100804034 1406 T-C rRNA MT-RNR1    
20100804035 1435 A-T rRNA MT-RNR1    
20100804036 1438 A-G rRNA MT-RNR1    
20100804037 1462 G-A rRNA MT-RNR1    
20110503003 1462 G-T rRNA MT-RNR1 Congenital Non-syndromic Deafness  
20100804038 1503 G-A rRNA MT-RNR1    
20100804039 1530 A-G rRNA MT-RNR1    
20100804040 1537 C-T rRNA MT-RNR1    
20100804041 1598 G-A rRNA MT-RNR1    
20110302021 1607 T-C tRNA MT-TV complex I deficiency  
20100804042 1664 G-A tRNA MT-TV    
20100804043 1676 A-G rRNA MT-RNR2    
20110302006 1692 A-T rRNA MT-RNR2 combined complex I + IV deficiency  
20100804044 1700 T-C rRNA MT-RNR2    
20100804045 1709 G-A rRNA MT-RNR2    
20100804046 1711 C-T rRNA MT-RNR2    
20100804047 1719 G-A rRNA MT-RNR2    
20100804048 1720 C-T rRNA MT-RNR2    
20100804049 1721 C-T rRNA MT-RNR2    
20100804050 1738 T-C rRNA MT-RNR2    
20110302022 1767 G-A rRNA MT-RNR2 complex I deficiency  
20100804051 1806 T-C rRNA MT-RNR2    
20100804052 1811 A-G rRNA MT-RNR2    
20100804053 1812 C-G rRNA MT-RNR2    
20100804054 1813 C-G rRNA MT-RNR2    
20100804055 1824 T-C rRNA MT-RNR2    
20100804056 1834 T-C rRNA MT-RNR2    
20100804057 1842 A-G rRNA MT-RNR2    
20100804058 1850 T-C rRNA MT-RNR2    
20110302018 1886 G-A rRNA MT-RNR2 combined complex I + IV deficiency, Mitochondrial Myopathy  
20100804059 1888 G-A rRNA MT-RNR2    
20100804060 1900 A-G rRNA MT-RNR2    
20110302007 1943 A-G rRNA MT-RNR2 complex I deficiency  
20100804061 1977 T-C rRNA MT-RNR2    
20110503004 1978 A-C rRNA MT-RNR2 Congenital Non-syndromic Deafness  
20100804062 2060 A-C rRNA MT-RNR2    
20100804063 2060 A-G rRNA MT-RNR2    
20100804064 2098 G-A rRNA MT-RNR2    
20100804065 2141 T-C rRNA MT-RNR2    
20100804066 2158 T-C rRNA MT-RNR2    
20100804067 2217 C-T rRNA MT-RNR2    
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    
20110302009 2358 A-G rRNA MT-RNR2 complex I deficiency  
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    
20100804085 2416 T-C rRNA MT-RNR2    
20100804086 2417 C-G rRNA MT-RNR2    
20100804087 2442 T-C rRNA MT-RNR2    
20100804088 2483 T-C rRNA MT-RNR2    
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    
20100804091 2702 G-A rRNA MT-RNR2    
20100804092 2706 A-G rRNA MT-RNR2    
20100804093 2707 A-G rRNA MT-RNR2    
20100804094 2755 A-G rRNA MT-RNR2    
20110302010 2755 A-G rRNA MT-RNR2 complex I deficiency  
20100804095 2757 A-G rRNA MT-RNR2    
20100804096 2758 G-A rRNA MT-RNR2    
20100804097 2768 A-G rRNA MT-RNR2    
20100804098 2772 C-T rRNA MT-RNR2    
20100804099 2775 A-G rRNA MT-RNR2    
20100804100 2789 C-T rRNA MT-RNR2    
20100804101 2792 A-G rRNA MT-RNR2    
20100804102 2831 G-A rRNA MT-RNR2    
20100804103 2833 A-G rRNA MT-RNR2    
20100804104 2838 A-C rRNA MT-RNR2    
20100804105 2850 T-C rRNA MT-RNR2    
20100804106 2873 A-G rRNA MT-RNR2    
20100804107 2885 T-C rRNA MT-RNR2    
20100804108 2955 T-C rRNA MT-RNR2    
20100804109 3010 G-A rRNA MT-RNR2    
20100804110 3027 T-C rRNA MT-RNR2    
20100804111 3083 T-C rRNA MT-RNR2    
20100804112 3105 A-G rRNA MT-RNR2    
20100804113 3116 C-T rRNA MT-RNR2    
20100804114 3173 G-A rRNA MT-RNR2    
20100804115 3197 T-C rRNA MT-RNR2    
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    
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  
20100804122 3221 A-G rRNA MT-RNR2    
20140214020 3243 A-G tRNA MT-TL1 Melas  
20100804123 3254 C-A tRNA MT-TL1    
20100804124 3308 T-C M-T MT-ND1    
20100804125 3316 G-A A-T MT-ND1    
20100804126 3335 T-C I-T MT-ND1    
20100804127 3336 T-C syn MT-ND1    
20100804128 3338 T-C V-A MT-ND1    
20100804129 3348 A-G syn MT-ND1    
20100804130 3355 A-G M-V MT-ND1    
20100804131 3360 A-G syn MT-ND1    
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    
20100804133 3397 A-G M-V MT-ND1    
20100804134 3398 T-C M-T MT-ND1    
20100804135 3399 A-T M-I MT-ND1    
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  
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    
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    
20100804149 3552 T-C syn MT-ND1    
20100804150 3565 A-G T-A MT-ND1    
20100804151 3591 G-A syn MT-ND1    
20100804152 3594 C-T syn MT-ND1    
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    
20100804155 3666 G-A syn MT-ND1    
20100804156 3672 A-G syn MT-ND1    
20100804157 3687 C-T syn MT-ND1    
20100804158 3693 G-A syn MT-ND1    
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    
20100804165 3747 C-T syn MT-ND1    
20100804166 3753 T-C syn MT-ND1    
20100804167 3756 A-G syn MT-ND1    
20100804168 3766 T-C syn MT-ND1    
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    
20100804172 3825 A-G syn MT-ND1    
20100804173 3826 T-C syn MT-ND1    
20100804174 3834 G-A syn MT-ND1    
20100804175 3847 T-C syn MT-ND1    
20100804176 3849 G-A syn MT-ND1    
20100804177 3861 A-G syn MT-ND1    
20100804178 3866 T-G I-S MT-ND1    
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    
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    
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    
20100804191 4017 C-T syn MT-ND1    
20100804192 4020 C-T syn MT-ND1    
20100804193 4021 A-G T-A MT-ND1    
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    
20100804200 4065 A-G syn MT-ND1    
20100804201 4080 T-C syn MT-ND1    
20100804202 4086 C-T syn MT-ND1    
20100804203 4089 C-T syn MT-ND1    
20100804204 4093 A-G T-A MT-ND1    
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    
20100804212 4172 T-A L-Q MT-ND1    
20100804213 4188 A-G syn MT-ND1    
20100804214 4203 A-G syn MT-ND1    
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    
20100804219 4291 T-C tRNA MT-TI    
20100804220 4295 A-G tRNA MT-TI    
20110704002 4295 A-G tRNA MT-TI non-syndromic deafness  
20100804221 4310 A-G tRNA MT-TI    
20100804222 4317 A-G tRNA MT-TI    
20100804223 4336 T-C tRNA MT-TQ    
20100804224 4363 T-C tRNA MT-TQ    
20100804225 4388 A-G tRNA MT-TQ    
20100804226 4395 A-G tRNA MT-TQ    
20100804227 4401 A-T non-coding MT-NC2    
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    
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    
20100804237 4577 C-T syn MT-ND2    
20100804238 4580 G-A syn MT-ND2    
20100804239 4589 T-C syn MT-ND2    
20100804240 4616 C-T syn MT-ND2    
20100804241 4622 T-C syn MT-ND2    
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    
20100804253 4732 A-G N-S MT-ND2    
20100804254 4733 T-C syn MT-ND2    
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    
20100804260 4763 C-T syn MT-ND2    
20100804261 4769 A-G syn MT-ND2    
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    
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    
20100804271 4823 T-C syn MT-ND2    
20100804272 4843 C-T T-M MT-ND2    
20100804273 4856 T-C syn MT-ND2    
20100804274 4898 C-T syn MT-ND2    
20100804275 4917 A-G N-D MT-ND2    
20100804276 4924 G-A S-N MT-ND2    
20100804277 4928 T-C syn MT-ND2    
20100804278 4936 C-T T-I MT-ND2    
20100804279 4946 C-T syn MT-ND2    
20100804280 4961 A-G syn MT-ND2    
20100804281 4965 A-G S-G MT-ND2    
20100804282 4976 A-G syn MT-ND2    
20100804283 4977 T-C syn MT-ND2    
20100804284 4991 G-A syn MT-ND2    
20100804285 5004 T-C syn MT-ND2    
20100804286 5021 T-C syn MT-ND2    
20100804287 5024 C-T syn MT-ND2    
20100804288 5029 T-C M-T 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    
20100804292 5046 G-A V-I MT-ND2    
20100804293 5051 A-G syn MT-ND2    
20100804294 5054 G-A syn MT-ND2    
20100804295 5063 T-C syn MT-ND2    
20100804296 5074 T-C I-T MT-ND2    
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    
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    
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    
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    
20100804315 5277 T-C F-L MT-ND2    
20100804316 5301 A-G I-V MT-ND2    
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    
20100804321 5351 A-G syn MT-ND2    
20100804322 5360 C-T syn MT-ND2    
20100804323 5375 C-T syn MT-ND2    
20100804324 5378 A-G syn MT-ND2    
20100804325 5390 A-G syn MT-ND2    
20100804326 5393 T-C syn MT-ND2    
20100804327 5414 A-G syn MT-ND2    
20100804328 5423 A-G syn MT-ND2    
20100804329 5426 T-C syn MT-ND2    
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    
20140214016 5459 C-T I-I MT-ND2    
20100804334 5460 G-A A-T MT-ND2    
20100804335 5463 C-T L-F MT-ND2    
20100804336 5465 T-C syn MT-ND2    
20100804337 5471 G-A syn MT-ND2    
20100804338 5477 C-T syn 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    
20100804346 5527 A-G non-coding MT-TW    
20100804347 5553 T-C non-coding MT-TW    
20100804348 5558 A-G non-coding MT-TW    
20100804349 5580 T-C non-coding MT-NC3    
20100804350 5581 A-G non-coding MT-NC3    
20100804351 5583 C-T non-coding MT-NC3    
20100804352 5585 G-A non-coding MT-NC3    
20100804353 5586 C-T non-coding MT-NC3    
20100804354 5592 A-G tRNA MT-TA    
20100804355 5628 T-C tRNA MT-TA    
20100804356 5633 C-T tRNA 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  
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    
20100804364 5802 T-C tRNA MT-TC    
20100804365 5814 T-C tRNA MT-TC    
20100804366 5817 C-T tRNA MT-TC    
20100804367 5821 G-A tRNA MT-TC    
20100804368 5823 A-G tRNA MT-TC    
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    
20100804371 5894 A-G non-coding MT-NC5    
20100804372 5898 C-A non-coding MT-NC5    
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    
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    
20100804382 6040 A-G N-S MT-CO1    
20100804383 6045 C-T syn MT-CO1    
20100804384 6047 A-G syn MT-CO1    
20100804385 6071 T-C syn MT-CO1    
20100804386 6080 A-G syn MT-CO1    
20100804387 6092 T-C syn MT-CO1    
20110503015 6140 C-A syn MT-CO1 Congenital Non-syndromic Deafness  
20100804388 6146 A-G syn MT-CO1    
20100804389 6150 G-A V-I MT-CO1    
20100804390 6152 T-C syn MT-CO1    
20100804391 6164 C-T syn MT-CO1    
20140520003 6164 C-T Syn MT-CO1 infertile  
20100804392 6167 T-C syn MT-CO1    
20100804393 6176 T-C syn MT-CO1    
20100804394 6182 G-A syn MT-CO1    
20110503016 6188 C-T syn MT-CO1 Congenital Non-syndromic Deafness  
20100804395 6221 T-C syn MT-CO1    
20140520001 6221 T-A Syn MT-CO1 infertile  
20100804396 6227 T-C syn MT-CO1    
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    
20100804408 6293 T-C syn MT-CO1    
20101004001 6296 C-A syn MT-CO1    
20140520002 6296 C-A Syn MT-CO1 infertile  
20100804409 6299 A-G syn MT-CO1    
20100804410 6317 C-T syn MT-CO1    
20100804411 6329 C-T syn MT-CO1    
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    
20100804417 6383 G-A syn MT-CO1    
20100804418 6392 T-C syn MT-CO1    
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    
20100804424 6473 C-T syn MT-CO1    
20100804425 6480 G-A V-I MT-CO1    
20100804426 6489 C-A L-I MT-CO1    
20100804427 6518 C-T syn MT-CO1    
20100804428 6527 A-G syn MT-CO1    
20100804429 6528 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    
20100804434 6599 A-G syn MT-CO1    
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    
20100804439 6663 A-G I-V MT-CO1    
20100804440 6665 C-T syn MT-CO1    
20100804441 6671 T-C syn MT-CO1    
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    
20100804456 6827 T-C syn MT-CO1    
20100804457 6830 C-A syn MT-CO1    
20100804458 6845 C-T syn MT-CO1    
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    
20100804465 6989 A-G syn MT-CO1    
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    
20100804471 7080 T-C F-L MT-CO1    
20100804472 7094 T-C syn MT-CO1    
20100804473 7119 G-A D-N MT-CO1    
20100804474 7146 A-G T-A MT-CO1    
20100804475 7151 C-T syn MT-CO1    
20100804476 7175 T-C syn MT-CO1    
20100804477 7184 A-G syn MT-CO1    
20100804478 7202 A-G syn MT-CO1    
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    
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    
20100804489 7274 C-T syn MT-CO1    
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    
20100804493 7337 G-A syn MT-CO1    
20100804494 7340 G-A syn MT-CO1    
20100804495 7356 G-A V-M MT-CO1    
20100804496 7364 A-G syn MT-CO1    
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    
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  
20100804503 7468 C-T tRNA MT-TS1    
20100804504 7476 C-T tRNA MT-TS1    
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  
20100804508 7606 A-G syn MT-CO2    
20100804509 7624 T-C syn MT-CO2    
20100804510 7645 T-C syn MT-CO2    
20100804511 7673 A-G I-V MT-CO2    
20100804512 7691 T-C F-L MT-CO2    
20100804513 7697 G-A V-I MT-CO2    
20100804514 7705 T-C syn MT-CO2    
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    
20100804522 7754 G-A D-N MT-CO2    
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    
20100804526 7772 A-G T-A MT-CO2    
20100804527 7789 G-A syn MT-CO2    
20100906002 7799 A-G I-V MT-CO2 Breast cancer  
20100804528 7805 G-A V-I MT-CO2    
20100906003 7806 T-A V-D MT-CO2 Breast cancer  
20100906004 7813 C-T syn MT-CO2 Breast cancer  
20100804529 7830 G-A R-H MT-CO2    
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  
20100804532 7859 G-A D-N MT-CO2    
20100804533 7864 C-T syn MT-CO2    
20100804534 7867 C-T syn MT-CO2    
20100804535 7897 G-A syn MT-CO2    
20100804536 7941 A-G N-S MT-CO2    
20100804537 7960 A-C syn MT-CO2    
20100804538 7961 T-C syn MT-CO2    
20100804539 7963 A-G syn MT-CO2    
20100804540 7972 A-G syn MT-CO2    
20100906005 7972 A-G syn MT-CO2 Breast cancer  
20100804541 7978 C-G syn MT-CO2    
20100804542 8014 A-T syn MT-CO2    
20100906006 8017 C-T syn MT-CO2 Breast cancer  
20100804543 8020 G-A syn MT-CO2    
20100804544 8027 G-A A-T MT-CO2    
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  
20100804548 8098 A-G syn MT-CO2    
20100804549 8104 T-C syn MT-CO2    
20110503020 8115 G-A G-E MT-CO2 Congenital Non-syndromic Deafness  
20100804550 8119 T-C syn MT-CO2    
20100804551 8137 C-T syn MT-CO2    
20100804552 8149 A-G syn MT-CO2    
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    
20100804557 8206 G-A syn MT-CO2    
20100804558 8242 T-C syn MT-CO2    
20100804559 8248 A-G syn MT-CO2    
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    
20100804564 8269 G-A syn MT-CO2    
20100804565 8270 C-T non-coding MT-NC7    
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    
20120507001 8331          
20100804576 8347 A-G tRNA MT-TK    
20100804577 8348 A-G tRNA MT-TK    
20100804578 8380 T-C syn MT-ATP8    
20100804579 8388 T-C V-A MT-ATP8    
20100804580 8392 G-A syn MT-ATP8    
20100804581 8393 C-T P-S MT-ATP8    
20100804582 8395 C-T syn MT-ATP8    
20100804583 8412 T-C M-T MT-ATP8    
20100804584 8426 T-C F-L MT-ATP8    
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    
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    
20100804596 8519 G-A E-K MT-ATP8    
20100804597 8538 T-C I-T MT-ATP8    
20100804598 8538 T-C syn MT-ATP6    
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    
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    
20100804611 8568 C-A S-Y MT-ATP8    
20100804612 8568 C-A I-M MT-ATP6    
20100804613 8577 A-G syn MT-ATP6    
20100804614 8581 G-A A-T MT-ATP6    
20100804615 8592 G-A syn MT-ATP6    
20100804616 8598 T-C syn MT-ATP6    
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    
20100804628 8655 C-T syn MT-ATP6    
20100804629 8659 A-G T-A MT-ATP6    
20100804630 8674 A-G I-V MT-ATP6    
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    
20100804635 8701 A-G T-A MT-ATP6    
20100804636 8703 C-T syn MT-ATP6    
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    
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    
20100804644 8818 C-T syn MT-ATP6    
20100804645 8819 T-C L-P MT-ATP6    
20100804646 8823 T-G syn MT-ATP6    
20100804647 8860 A-G T-A MT-ATP6    
20100804648 8865 G-A syn MT-ATP6    
20100804649 8887 A-G I-V MT-ATP6    
20100804650 8895 T-A N-K MT-ATP6    
20100804651 8920 G-A G-S MT-ATP6    
20100804652 8931 A-G syn MT-ATP6    
20100804653 8938 A-G I-V MT-ATP6    
20100804654 8945 T-C M-T MT-ATP6    
20100804655 8950 G-A V-I MT-ATP6    
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  
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    
20100804664 9007 A-G T-A MT-ATP6    
20100804665 9015 C-T syn MT-ATP6    
20100804666 9022 G-A A-T MT-ATP6    
20100804667 9035 T-C L-P MT-ATP6    
20100804668 9039 G-A syn MT-ATP6    
20100804669 9041 A-G H-R MT-ATP6    
20100804670 9055 G-A A-T MT-ATP6    
20100804671 9055 G-C A-P MT-ATP6    
20100804672 9056 C-T A-V MT-ATP6    
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    
20100804684 9108 A-G syn MT-ATP6    
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    
20100804693 9150 A-G syn MT-ATP6    
20100804694 9165 T-C syn MT-ATP6    
20100804695 9181 A-G S-G MT-ATP6    
20100804696 9196 G-A D-N MT-ATP6    
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    
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    
20100804706 9296 C-T syn MT-CO3    
20100804707 9299 A-G syn MT-CO3    
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    
20100804712 9335 C-A syn MT-CO3    
20100804713 9337 T-C M-T MT-CO3    
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    
20100804718 9377 A-G syn MT-CO3    
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    
20100804724 9425 A-G syn MT-CO3    
20100804725 9438 G-A G-S MT-CO3    
20100804726 9469 C-T T-I MT-CO3    
20100804727 9477 G-A V-I MT-CO3    
20100804728 9521 C-T syn MT-CO3    
20100804729 9528 C-A P-T MT-CO3    
20100804730 9540 T-C syn MT-CO3    
20100804731 9545 A-G syn MT-CO3    
20100804732 9548 G-A syn MT-CO3    
20100804733 9575 G-A syn MT-CO3    
20100804734 9591 G-A V-I MT-CO3    
20100804735 9632 A-G syn MT-CO3    
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    
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    
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    
20100804751 9770 T-C syn MT-CO3    
20100804752 9800 T-C syn MT-CO3    
20100804753 9801 G-A V-M MT-CO3    
20100804754 9804 G-A A-T MT-CO3    
20100804755 9809 A-C syn MT-CO3    
20100804756 9809 A-G syn MT-CO3    
20100804757 9840 T-A S-T MT-CO3    
20100804758 9845 T-C syn MT-CO3    
20100804759 9899 T-C syn MT-CO3    
20100804760 9903 T-C F-L MT-CO3    
20100804761 9932 G-A syn MT-CO3    
20100804762 9938 T-C syn MT-CO3    
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    
20100804767 9986 G-A syn MT-CO3    
20100804768 10005 A-G tRNA MT-TG    
20100804769 10018 A-G tRNA MT-TG    
20100804770 10034 T-C tRNA MT-TG    
20100804771 10044 A-G tRNA MT-TG    
20100804772 10081 T-C M-T MT-ND3    
20100804773 10084 T-C I-T MT-ND3    
20100804774 10097 A-G syn MT-ND3    
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    
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    
20100804784 10151 A-G syn MT-ND3    
20100804785 10154 A-G syn MT-ND3    
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    
20100804795 10232 A-G syn MT-ND3    
20100804796 10235 T-C syn MT-ND3    
20100804797 10237 T-C I-T MT-ND3    
20100804798 10238 T-C syn MT-ND3    
20100804799 10245 T-C syn MT-ND3    
20100804800 10256 T-C syn MT-ND3    
20100804801 10262 A-G syn MT-ND3    
20100804802 10265 T-C syn MT-ND3    
20100804803 10283 A-G syn MT-ND3    
20100804804 10289 A-G syn MT-ND3    
20100804805 10310 G-A syn MT-ND3    
20100804806 10320 G-A V-I MT-ND3    
20100804807 10321 T-C V-A MT-ND3    
20100804808 10323 A-G M-V MT-ND3    
20100804809 10325 G-A syn MT-ND3    
20100804810 10340 A-G syn MT-ND3    
20100804811 10344 A-G I-V MT-ND3    
20110503023 10348 T-C I-T MT-ND3 Congenital Non-syndromic Deafness  
20100804812 10361 T-C syn MT-ND3    
20100804813 10373 G-A syn MT-ND3    
20100804814 10394 C-T syn MT-ND3    
20100804815 10398 A-G T-A MT-ND3    
20100804816 10398 A-T T-S MT-ND3    
20100804817 10410 T-A tRNA MT-TR    
20100804818 10410 T-C tRNA MT-TR    
20100804819 10463 T-C tRNA MT-TR    
20100804820 10487 A-T M-I MT-ND4L    
20100804821 10493 T-C syn MT-ND4L    
20100804822 10499 A-G syn MT-ND4L    
20100804823 10506 A-G T-A MT-ND4L    
20100804824 10550 A-G syn MT-ND4L    
20100804825 10551 T-G S-A MT-ND4L    
20100804826 10559 A-G syn MT-ND4L    
20100804827 10586 G-A syn MT-ND4L    
20100804828 10589 G-A syn MT-ND4L    
20100804829 10595 T-C syn MT-ND4L    
20100804830 10598 A-G syn MT-ND4L    
20100804831 10601 T-C syn MT-ND4L    
20100804832 10607 C-T syn MT-ND4L    
20100804833 10609 T-C M-T MT-ND4L    
20100804834 10619 C-T syn MT-ND4L    
20100804835 10628 C-T syn MT-ND4L    
20100804836 10646 G-A syn MT-ND4L    
20100804837 10649 T-C syn MT-ND4L    
20100804838 10658 A-G syn MT-ND4L    
20100804839 10664 C-A syn MT-ND4L    
20100804840 10670 C-T syn MT-ND4L    
20100804841 10680 G-A A-T MT-ND4L    
20100804842 10685 G-A syn MT-ND4L    
20100804843 10688 G-A syn MT-ND4L    
20100804844 10709 A-C syn MT-ND4L    
20100804845 10733 C-T syn MT-ND4L    
20100804846 10750 A-G N-S MT-ND4L    
20110503024 10751 C-A N-K MT-ND4L Congenital Non-syndromic Deafness  
20100804847 10754 A-C syn MT-ND4L    
20100804848 10754 A-G syn MT-ND4L    
20100804849 10768 A-G syn MT-ND4    
20100804850 10790 T-C syn MT-ND4    
20100804851 10807 A-G syn MT-ND4    
20100804852 10810 T-C syn MT-ND4    
20100804853 10819 A-G syn MT-ND4    
20100804854 10822 C-T syn MT-ND4    
20100804855 10825 A-G syn MT-ND4    
20100804856 10845 C-T T-I MT-ND4    
20100804857 10861 T-C syn MT-ND4    
20100804858 10873 T-C syn MT-ND4    
20100804859 10876 A-G syn MT-ND4    
20100804860 10882 T-C syn MT-ND4    
20100804861 10885 T-C syn MT-ND4    
20100804862 10895 A-G N-D MT-ND4    
20100804863 10900 C-T syn MT-ND4    
20100804864 10907 T-C F-L MT-ND4    
20100804865 10908 T-C F-S MT-ND4    
20100804866 10915 T-C syn MT-ND4    
20100804867 10920 C-T P-L MT-ND4    
20100804868 10927 T-C syn MT-ND4    
20100804869 10963 A-G syn MT-ND4    
20100804870 10972 A-G syn MT-ND4    
20100804871 10978 A-G syn MT-ND4    
20100804872 11005 C-T syn MT-ND4    
20100804873 11009 T-C syn MT-ND4    
20100804874 11017 T-C syn MT-ND4    
20100804875 11025 T-C L-P MT-ND4    
20100804876 11039 C-T L-F MT-ND4    
20100804877 11050 T-C syn MT-ND4    
20100804878 11071 C-T syn MT-ND4    
20100804879 11075 T-C syn MT-ND4    
20100804880 11083 A-G syn MT-ND4    
20100804881 11084 A-G T-A MT-ND4    
20100804882 11101 A-G syn MT-ND4    
20100804883 11147 T-C syn MT-ND4    
20100804884 11152 T-C syn MT-ND4    
20100804885 11155 C-T syn MT-ND4    
20100804886 11167 A-G syn MT-ND4    
20100804887 11172 A-G N-S MT-ND4    
20100804888 11176 G-A syn MT-ND4    
20100804889 11197 C-T syn MT-ND4    
20100804890 11203 C-T syn MT-ND4    
20100804891 11204 T-C F-L MT-ND4    
20100804892 11221 A-G syn MT-ND4    
20100804893 11233 T-C syn MT-ND4    
20100804894 11242 C-G syn MT-ND4    
20100804895 11251 A-G syn MT-ND4    
20100804896 11253 T-C I-T MT-ND4    
20100804897 11287 T-C syn MT-ND4    
20100804898 11299 T-C syn MT-ND4    
20100804899 11326 C-T syn MT-ND4    
20100804900 11332 C-T syn MT-ND4    
20100804901 11337 A-G N-S MT-ND4    
20100804902 11339 T-C syn MT-ND4    
20100804903 11353 T-C syn MT-ND4    
20100804904 11377 G-A syn MT-ND4    
20100804905 11379 T-G M-Ter MT-ND4    
20100804906 11380 A-G syn MT-ND4    
20100804907 11383 T-C syn MT-ND4    
20100804908 11386 T-C syn MT-ND4    
20100804909 11440 G-A syn MT-ND4    
20100804910 11447 G-A V-M MT-ND4    
20100804911 11449 A-G syn MT-ND4    
20100804912 11461 A-G syn MT-ND4    
20100804913 11467 A-G syn MT-ND4    
20100804914 11470 A-G syn MT-ND4    
20100804915 11485 T-C syn MT-ND4    
20100804916 11504 A-G I-V MT-ND4    
20100804917 11506 T-C syn MT-ND4    
20100804918 11515 C-A syn MT-ND4    
20100804919 11533 C-T syn MT-ND4    
20100804920 11566 A-G syn MT-ND4    
20100804921 11590 A-G syn MT-ND4    
20100804922 11653 A-G syn MT-ND4    
20100804923 11654 A-G T-A MT-ND4    
20100804924 11674 C-T syn MT-ND4    
20100804925 11696 G-A V-I MT-ND4    
20110503025 11698 C-T syn MT-ND4 Congenital Non-syndromic Deafness  
20100804926 11701 T-C syn MT-ND4    
20100804927 11719 G-A syn MT-ND4    
20100804928 11732 T-C syn MT-ND4    
20100804929 11778 G-A R-H MT-ND4    
20100804930 11788 C-T syn MT-ND4    
20100804931 11803 T-C syn MT-ND4    
20100804932 11809 T-C syn MT-ND4    
20100804933 11812 A-G syn MT-ND4    
20100804934 11815 C-T syn MT-ND4    
20100804935 11840 C-T syn MT-ND4    
20100804936 11851 C-T syn MT-ND4    
20100804937 11852 G-A A-T MT-ND4    
20100804938 11864 T-C syn MT-ND4    
20100804939 11869 C-A syn MT-ND4    
20100804940 11878 T-C syn MT-ND4    
20100804941 11887 G-A syn MT-ND4    
20100804942 11893 A-G syn MT-ND4    
20100804943 11914 G-A syn MT-ND4    
20100804944 11923 A-G syn MT-ND4    
20100804945 11932 C-T syn MT-ND4    
20100804946 11938 C-T syn MT-ND4    
20100804947 11939 C-T syn MT-ND4    
20100804948 11944 T-C syn MT-ND4    
20100804949 11947 A-G syn MT-ND4    
20100804950 11965 C-T syn MT-ND4    
20100804951 11969 G-A A-T MT-ND4    
20100804952 11977 C-T syn MT-ND4    
20100804953 12007 G-A syn MT-ND4    
20100804954 12025 C-T syn MT-ND4    
20100804955 12030 A-G N-S MT-ND4    
20110503026 12057 A-G E-G MT-ND4 Congenital Non-syndromic Deafness  
20100804956 12063 C-T T-I MT-ND4    
20100804957 12070 G-A syn MT-ND4    
20100804958 12082 A-G syn MT-ND4    
20100804959 12083 T-A S-T MT-ND4    
20100804960 12083 T-G S-A MT-ND4    
20100804961 12127 G-A syn MT-ND4    
20100804962 12133 C-T syn MT-ND4    
20100804963 12136 T-C syn MT-ND4    
20100804964 12166 T-C tRNA MT-TH    
20100804965 12171 A-G tRNA MT-TH    
20100804966 12172 A-G tRNA MT-TH    
20100804967 12188 T-C tRNA MT-TH    
20100804968 12192 G-A tRNA MT-TH    
20110704004 12236 G-A tRNA MT-TS2 non-syndromic deafness  
20100804969 12246 C-T tRNA MT-TS2    
20110302017 12256 G-A tRNA MT-TS2 combined complex I + IV deficiency, Mitochondrial Myopathy  
20100804970 12265 A-G tRNA MT-TS2    
20100804971 12285 T-C tRNA MT-TL2    
20100804972 12308 A-G tRNA MT-TL2    
20100804973 12342 C-G syn MT-ND5    
20100804974 12346 C-T H-Y MT-ND5    
20100804975 12354 T-C syn MT-ND5    
20100804976 12358 A-G T-A MT-ND5    
20100804977 12362 C-T T-I MT-ND5    
20100804978 12366 A-G syn MT-ND5    
20100804979 12372 G-A syn MT-ND5    
20100804980 12373 A-G T-A MT-ND5    
20100804981 12376 T-G S-A MT-ND5    
20100804982 12378 C-T syn MT-ND5    
20100804983 12396 T-C syn MT-ND5    
20100804984 12403 C-T L-F MT-ND5    
20100804985 12406 G-A V-I MT-ND5    
20100804986 12414 T-C syn MT-ND5    
20100804987 12432 C-T syn MT-ND5    
20100804988 12441 T-C syn MT-ND5    
20100804989 12477 T-C syn MT-ND5    
20100804990 12490 A-G T-A MT-ND5    
20100804991 12492 A-T syn MT-ND5    
20100804992 12501 G-A syn MT-ND5    
20100804993 12519 T-C syn MT-ND5    
20100804994 12530 A-G N-S MT-ND5    
20100804995 12546 A-T syn MT-ND5    
20100804996 12549 C-T syn MT-ND5    
20100804997 12557 C-T T-I MT-ND5    
20100804998 12561 G-A syn MT-ND5    
20100804999 12588 C-T syn MT-ND5    
20100805001 12599 T-C M-T MT-ND5    
20100805002 12612 A-G syn MT-ND5    
20100805003 12616 T-C syn MT-ND5    
20100805004 12618 G-A syn MT-ND5    
20100805005 12633 C-A syn MT-ND5    
20100805006 12634 A-G I-V MT-ND5    
20100805007 12642 A-G syn MT-ND5    
20100805008 12651 G-A syn MT-ND5    
20100805009 12662 A-G N-S MT-ND5    
20100805010 12678 T-C syn MT-ND5    
20100805011 12681 T-C syn MT-ND5    
20100805012 12684 G-A syn MT-ND5    
20100805013 12693 A-G syn MT-ND5    
20100805014 12696 T-C syn MT-ND5    
20100805015 12698 T-G L-R MT-ND5    
20100805016 12705 C-T syn MT-ND5    
20100805017 12706 T-A F-I MT-ND5    
20100805018 12714 T-C syn MT-ND5    
20110503027 12721 C-T syn MT-ND5 Congenital Non-syndromic Deafness  
20100805019 12723 A-G syn MT-ND5    
20100805020 12727 T-C syn MT-ND5    
20100805021 12732 T-C syn MT-ND5    
20100805022 12738 T-G syn MT-ND5    
20100805023 12768 A-G syn MT-ND5    
20100805024 12768 A-T W-C MT-ND5    
20100805025 12771 G-A syn MT-ND5    
20100805026 12810 A-G syn MT-ND5    
20100805027 12811 T-C Y-H MT-ND5    
20100805028 12813 C-T syn MT-ND5    
20100805029 12858 C-T syn MT-ND5    
20100805030 12876 C-T syn MT-ND5    
20100805031 12879 T-C syn MT-ND5    
20100805032 12930 A-G syn MT-ND5    
20100805033 12937 A-G M-V MT-ND5    
20100805034 12950 A-C N-T MT-ND5    
20100805035 12950 A-G N-S MT-ND5    
20100805036 12954 T-C syn MT-ND5    
20100805037 12957 T-C syn MT-ND5    
20100805038 12969 C-G syn MT-ND5    
20100805039 12987 C-T syn MT-ND5    
20130226001 13000          
20100805040 13015 T-C syn MT-ND5    
20100805041 13017 A-G syn MT-ND5    
20100805042 13020 T-C syn MT-ND5    
20100805043 13032 A-G syn MT-ND5    
20100805044 13035 C-A syn MT-ND5    
20100805045 13042 G-T A-S MT-ND5    
20100805046 13101 A-C syn MT-ND5    
20100805047 13104 A-G syn MT-ND5    
20100805048 13105 A-G I-V MT-ND5    
20100805049 13111 T-C syn MT-ND5    
20100805050 13117 A-G I-V MT-ND5    
20100805051 13135 G-A A-T MT-ND5    
20100805052 13145 G-A S-N MT-ND5    
20100805053 13146 C-T syn MT-ND5    
20100805054 13147 C-T P-S MT-ND5    
20100805055 13212 C-T syn MT-ND5    
20100805056 13215 T-C syn MT-ND5    
20100805057 13225 G-A D-N MT-ND5    
20100805058 13263 A-G syn MT-ND5    
20100805059 13281 T-C syn MT-ND5    
20100805060 13293 C-T syn MT-ND5    
20100805061 13326 T-C syn MT-ND5    
20100805062 13356 T-C syn MT-ND5    
20100805063 13359 G-A syn MT-ND5    
20100805064 13368 G-A syn MT-ND5    
20100805065 13392 T-C syn MT-ND5    
20100805066 13401 T-C syn MT-ND5    
20100805067 13404 T-C syn MT-ND5    
20100805068 13434 A-G syn MT-ND5    
20100805069 13437 T-C syn MT-ND5    
20100805070 13466 G-C S-T MT-ND5    
20100805071 13468 C-A L-M MT-ND5    
20100805072 13470 A-G syn MT-ND5    
20100805073 13477 G-A A-T MT-ND5    
20100805074 13479 A-G syn MT-ND5    
20100805075 13485 A-G syn MT-ND5    
20100805076 13500 T-C syn MT-ND5    
20100805077 13506 C-T syn MT-ND5    
20140214017 13513 G-A D-N (Asp393Asn) MT-ND5 Leigh syndrome  
20100805078 13528 A-G T-A MT-ND5    
20100805079 13535 A-G N-S MT-ND5    
20100805080 13545 C-T syn MT-ND5    
20100805081 13557 A-G syn MT-ND5    
20100805082 13565 C-T S-F MT-ND5    
20100805083 13569 T-C syn MT-ND5    
20100805084 13587 C-T syn MT-ND5    
20100805085 13590 G-A syn MT-ND5    
20100805086 13608 T-C syn MT-ND5    
20100805087 13617 T-C syn MT-ND5    
20100805088 13620 T-C syn MT-ND5    
20100805089 13623 C-T syn MT-ND5    
20100805090 13630 A-G T-A MT-ND5    
20100805091 13632 A-G syn MT-ND5    
20100805092 13637 A-G Q-R MT-ND5    
20100805093 13650 C-T syn MT-ND5    
20100805094 13651 A-G T-A MT-ND5    
20100805095 13656 T-C syn MT-ND5    
20100805096 13661 A-G N-S MT-ND5    
20100805097 13665 T-C syn MT-ND5    
20100805098 13680 C-T syn MT-ND5    
20100805099 13681 A-G T-A MT-ND5    
20100805100 13695 C-T syn MT-ND5    
20100805101 13705 C-T syn MT-ND5    
20100805102 13707 G-A syn MT-ND5    
20100805103 13708 G-A A-T MT-ND5    
20100805104 13722 A-G syn MT-ND5    
20100805105 13731 A-G syn MT-ND5    
20100805106 13734 T-C syn MT-ND5    
20100805107 13740 T-C syn MT-ND5    
20100805108 13743 T-C syn MT-ND5    
20100805109 13759 G-A A-T MT-ND5    
20100805110 13762 T-G S-A MT-ND5    
20100805111 13765 C-T P-S MT-ND5    
20100805112 13766 C-T P-L MT-ND5    
20100805113 13780 A-G I-V MT-ND5    
20100805114 13782 C-A I-M MT-ND5    
20100805115 13785 C-T syn MT-ND5    
20100805116 13789 T-C Y-H MT-ND5    
20100805117 13803 A-G syn MT-ND5    
20100805118 13827 A-G syn MT-ND5    
20100805119 13830 T-C syn MT-ND5    
20100805120 13879 T-C S-P MT-ND5    
20100805121 13880 C-A S-Y MT-ND5    
20100805122 13884 A-G syn MT-ND5    
20100805123 13889 G-A C-Y MT-ND5    
20100805124 13899 T-C syn MT-ND5    
20100805125 13911 A-G syn MT-ND5    
20100805126 13928 G-A S-N MT-ND5    
20100805127 13928 G-C S-T MT-ND5    
20100805128 13933 A-G T-A MT-ND5    
20100805129 13934 C-T T-M MT-ND5    
20100805130 13947 C-T syn MT-ND5    
20100805131 13948 C-T P-S MT-ND5    
20100805132 13953 T-C syn MT-ND5    
20100805133 13954 C-T syn MT-ND5    
20100805134 13965 T-C syn MT-ND5    
20100805135 13966 A-G T-A MT-ND5    
20100805136 13967 C-T T-M MT-ND5    
20100805137 13973 A-T Q-L MT-ND5    
20100805138 13977 C-T syn MT-ND5    
20100805139 13980 G-A syn MT-ND5    
20100805140 14000 T-A L-Q MT-ND5    
20100805141 14002 A-G T-A MT-ND5    
20100805142 14013 A-G syn MT-ND5    
20100805143 14016 G-A syn MT-ND5    
20100805144 14020 T-C syn MT-ND5    
20100805145 14037 A-G syn MT-ND5    
20100805146 14040 G-A syn MT-ND5    
20100805147 14055 C-T syn MT-ND5    
20100805148 14058 C-T syn MT-ND5    
20100805149 14070 A-G syn MT-ND5    
20100805150 14071 A-G T-A MT-ND5    
20100805151 14079 A-G syn MT-ND5    
20100805152 14097 C-T syn MT-ND5    
20100805153 14106 T-C syn MT-ND5    
20100805154 14110 T-C F-L MT-ND5    
20100805155 14118 A-G syn MT-ND5    
20100805156 14125 C-T syn MT-ND5    
20100805157 14133 A-G syn MT-ND5    
20100805158 14137 C-T syn MT-ND5    
20100805159 14139 A-G syn MT-ND5    
20100805160 14148 A-G Ter-Ter MT-ND5    
20100805161 14167 C-T syn MT-ND6    
20100805162 14178 T-C I-V MT-ND6    
20100805163 14179 A-G syn MT-ND6    
20100805164 14180 T-C Y-C MT-ND6    
20100805165 14182 T-C syn MT-ND6    
20100805166 14199 T-C T-A MT-ND6    
20100805167 14203 A-G syn MT-ND6    
20100805168 14207 G-A T-I MT-ND6    
20100805169 14212 T-C syn MT-ND6    
20100805170 14215 T-C syn MT-ND6    
20100805171 14220 A-G syn MT-ND6    
20100805172 14233 A-G syn MT-ND6    
20100805173 14245 C-A syn MT-ND6    
20100805174 14249 G-A A-V MT-ND6    
20100805175 14258 G-A P-L MT-ND6    
20100805176 14272 C-T syn MT-ND6    
20100805177 14274 A-G syn MT-ND6    
20100805178 14275 C-T syn MT-ND6    
20100805179 14278 T-C syn MT-ND6    
20100805180 14296 A-G syn MT-ND6    
20100805181 14305 G-A syn MT-ND6    
20100805182 14323 G-A syn MT-ND6    
20100805183 14325 T-C N-D MT-ND6    
20100805184 14359 C-T syn MT-ND6    
20100805185 14364 G-A syn MT-ND6    
20100805186 14365 C-T syn MT-ND6    
20100805187 14370 A-G syn MT-ND6    
20100805188 14371 T-C syn MT-ND6    
20100805189 14386 T-C syn MT-ND6    
20100805190 14388 A-G syn MT-ND6    
20100805191 14410 G-A syn MT-ND6    
20100805192 14419 C-A syn MT-ND6    
20100805193 14419 C-T syn MT-ND6    
20100805194 14431 T-C syn MT-ND6    
20141101003 14458 C-G syn MT-ND6 Diabetes ,Myopathy  
20100805195 14470 T-C syn MT-ND6    
20100805196 14470 T-A syn MT-ND6    
20100805197 14484 T-C M-V MT-ND6    
20100805198 14494 T-C syn MT-ND6    
20100805199 14497 A-G syn MT-ND6    
20100805200 14498 T-C Y-C MT-ND6    
20100805201 14502 T-C I-V MT-ND6    
20100805202 14515 T-C syn MT-ND6    
20100805203 14518 A-G syn MT-ND6    
20100805204 14528 C-A G-V MT-ND6    
20100805205 14530 T-C syn MT-ND6    
20100805206 14560 G-A syn MT-ND6    
20100805207 14566 A-G syn MT-ND6    
20100805208 14569 G-A syn MT-ND6    
20100805209 14574 C-T V-I MT-ND6    
20100805210 14577 T-C I-V MT-ND6    
20100805211 14582 A-G V-A MT-ND6    
20100805212 14587 A-G syn MT-ND6    
20100805213 14593 A-G syn MT-ND6    
20100805214 14605 A-T syn MT-ND6    
20100805215 14620 C-T syn MT-ND6    
20100805216 14627 A-G F-S MT-ND6    
20100805217 14632 C-T syn MT-ND6    
20100805218 14683 A-G tRNA MT-TE    
20100805219 14687 A-G tRNA MT-TE    
20100805220 14693 A-G tRNA MT-TE    
20100805221 14706 A-G tRNA MT-TE    
20100805222 14727 T-C tRNA MT-TE    
20110503028 14752 C-T syn MT-CYB Congenital Non-syndromic Deafness  
20100805223 14766 C-T T-I MT-CYB    
20100805224 14769 A-C N-T MT-CYB    
20100805225 14769 A-G N-S MT-CYB    
20100805226 14770 C-T syn MT-CYB    
20100805227 14772 C-T P-L MT-CYB    
20100805228 14773 C-T syn MT-CYB    
20100805229 14775 T-C L-P MT-CYB    
20100805230 14778 T-G M-Ter MT-CYB    
20100805231 14783 T-C syn MT-CYB    
20100805232 14790 A-G N-S MT-CYB    
20100805233 14793 A-G H-R MT-CYB    
20100805234 14798 T-C F-L MT-CYB    
20100805235 14811 C-T P-L MT-CYB    
20110503029 14820 C-T S-F MT-CYB Congenital Non-syndromic Deafness  
20100805236 14839 A-G syn MT-CYB    
20100805237 14857 T-C syn MT-CYB    
20100805238 14858 G-A G-S MT-CYB    
20100805239 14861 G-A A-T MT-CYB    
20100805240 14866 C-T syn MT-CYB    
20100805241 14869 G-A syn MT-CYB    
20100805242 14872 C-T syn MT-CYB    
20100805243 14897 C-T syn MT-CYB    
20100805244 14902 C-T syn MT-CYB    
20100805245 14905 G-A syn MT-CYB    
20100805246 14911 C-T syn MT-CYB    
20100805247 14926 A-G syn MT-CYB    
20100805248 14927 A-G T-A MT-CYB    
20100805249 14956 T-C syn MT-CYB    
20100805250 14962 C-T syn MT-CYB    
20100805251 14970 A-T Y-F MT-CYB    
20100805252 15001 T-C syn MT-CYB    
20100805253 15016 C-T syn MT-CYB    
20100805254 15019 T-C syn MT-CYB    
20100805255 15028 C-A syn MT-CYB    
20100805256 15032 C-T syn MT-CYB    
20100805257 15034 A-G syn MT-CYB    
20100805258 15043 G-A syn MT-CYB    
20100805259 15052 A-G syn MT-CYB    
20100805260 15061 A-G syn MT-CYB    
20100805261 15067 T-C syn MT-CYB    
20100805262 15071 T-C Y-H MT-CYB    
20110704005 15077 G-A E-K MT-CYB non-syndromic deafness  
20100805263 15110 G-A A-T MT-CYB    
20100805264 15115 T-C syn MT-CYB    
20140630005 15118 A-G syn MT-CYB Temporal lobe epilepsy with hippocampal sclerosis  
20100805265 15122 A-G T-A MT-CYB    
20100805266 15139 T-C syn MT-CYB    
20100805267 15148 G-A syn MT-CYB    
20100805268 15172 G-A syn MT-CYB    
20100805269 15175 C-T syn MT-CYB    
20140214004 15204 T-C I-T (Ile153Thr) MT-CYB Patient  
20100805270 15217 G-A syn MT-CYB    
20100805271 15218 A-G T-A MT-CYB    
20100805272 15219 C-T T-M MT-CYB    
20100805273 15221 G-A D-N MT-CYB    
20100805274 15232 A-G syn MT-CYB    
20100805275 15244 A-G syn MT-CYB    
20100805276 15257 G-A D-N MT-CYB    
20100805277 15289 T-C syn MT-CYB    
20100805278 15299 T-C syn MT-CYB    
20100805279 15301 G-A syn MT-CYB    
20100805280 15310 T-C syn MT-CYB    
20100805281 15313 T-C syn MT-CYB    
20100805282 15314 G-A A-T MT-CYB    
20100805283 15325 A-C syn MT-CYB    
20100805284 15326 A-G T-A MT-CYB    
20100805285 15340 A-G syn MT-CYB    
20100805286 15346 G-A syn MT-CYB    
20100805287 15355 G-A syn MT-CYB    
20100805288 15381 C-T T-I MT-CYB    
20100805289 15394 T-C syn MT-CYB    
20100805290 15397 A-G syn MT-CYB    
20140630006 15404 T-C F-L MT-CYB Temporal lobe epilepsy with hippocampal sclerosis  
20100805291 15409 C-T syn MT-CYB    
20100805292 15424 C-T syn MT-CYB    
20100805293 15430 C-T syn MT-CYB    
20100805294 15451 C-G F-L MT-CYB    
20100805295 15452 C-A L-I MT-CYB    
20100805296 15454 T-C syn MT-CYB    
20100805297 15465 T-C M-T MT-CYB    
20100805298 15466 G-A syn MT-CYB    
20100805299 15471 T-C L-S MT-CYB    
20100805300 15479 T-C F-L MT-CYB    
20100805301 15493 C-T syn MT-CYB    
20100805302 15499 C-T syn MT-CYB    
20100805303 15511 T-C syn MT-CYB    
20100805304 15514 T-C syn MT-CYB    
20100805305 15519 T-C L-P MT-CYB    
20100805306 15529 C-T syn MT-CYB    
20110503030 15542 C-T P-S MT-CYB Congenital Non-syndromic Deafness  
20100805307 15565 T-C syn MT-CYB    
20100805308 15607 A-G syn MT-CYB    
20100805309 15613 A-G syn MT-CYB    
20100805310 15616 C-T syn MT-CYB    
20100805311 15617 G-A V-I MT-CYB    
20100805312 15634 A-G syn MT-CYB    
20100805313 15652 A-G syn MT-CYB    
20100805314 15658 C-T syn MT-CYB    
20100805315 15670 T-C syn MT-CYB    
20100805316 15682 A-G syn MT-CYB    
20100805317 15693 T-C M-T MT-CYB    
20100805318 15708 G-C S-T MT-CYB    
20100805319 15721 T-C syn MT-CYB    
20100805320 15725 C-T L-F MT-CYB    
20100805321 15731 G-A A-T MT-CYB    
20100805322 15734 G-A A-T MT-CYB    
20100805323 15737 G-A D-N MT-CYB    
20100805324 15748 T-C syn MT-CYB    
20100805325 15758 A-G I-V MT-CYB    
20100805326 15766 A-G syn MT-CYB    
20100805327 15773 G-A V-M MT-CYB    
20100805328 15775 A-G syn MT-CYB    
20100805329 15781 C-T syn MT-CYB    
20100805330 15784 T-C syn MT-CYB    
20100805331 15790 C-T syn MT-CYB    
20100805332 15796 T-C syn MT-CYB    
20100805333 15803 G-A V-M MT-CYB    
20100805334 15812 G-A V-M MT-CYB    
20100805335 15817 A-G syn MT-CYB    
20100805336 15833 C-T syn MT-CYB    
20100805337 15859 A-G syn MT-CYB    
20100805338 15884 G-A A-T MT-CYB    
20100805339 15884 G-C A-P MT-CYB    
20100805340 15891 C-T tRNA MT-TT    
20100805341 15892 T-C tRNA MT-TT    
20100805342 15894 G-A tRNA MT-TT    
20100805343 15900 T-C tRNA MT-TT    
20100805344 15904 C-T tRNA MT-TT    
20100805345 15905 T-C tRNA MT-TT    
20100805346 15907 A-G tRNA MT-TT    
20100805347 15908 T-C tRNA MT-TT    
20100805348 15924 A-G tRNA MT-TT    
20100805349 15927 G-A tRNA MT-TT    
20100805350 15928 G-A tRNA MT-TT    
20100805351 15930 G-A tRNA MT-TT    
20100805352 15935 A-G tRNA MT-TT    
20100805353 15938 C-T tRNA MT-TT    
20100805354 15946 C-T tRNA MT-TT    
20100805355 15948 A-G tRNA MT-TT    
20100805356 15954 A-C non-coding MT-NC10    
20140630007 16092 T-C non-coding Control Region Temporal lobe epilepsy with hippocampal sclerosis  
20140630008 16093 T-C non-coding Control Region Temporal lobe epilepsy with hippocampal sclerosis  
20140630017 16148 C-T non-coding Control Region Glioma  
20110503031 16206 A-G non-coding Control Region Congenital Non-syndromic Deafness  
20140630013 16234 C-T non-coding Control Region Glioma  
20140630015 16422 T-C non-coding Control Region Temporal lobe epilepsy with hippocampal sclerosis  
20110503032 16565 C-T non-coding Control Region Congenital Non-syndromic Deafness  
20000914001 463 C-T noncod D-Loop - -
19990316006 711 T-C noncod MT-RNR1 - -
19990308002 1462 G-A noncod MT-RNR1 Diabetes/Deafness -
19990316007 3116 C-T noncod MT-RNR2 - -
19990316008 3184 C-T noncod MT-RNR2 - -
19990316009 3594 C-T syn MT-ND1 - -
19990316010 3666 G-A syn MT-ND1 - -
19990316011 3693 G-A syn MT-ND1 - -
19990316012 4104 A-G syn MT-ND1 - -
19990316013 5036 A-G syn MT-ND2 - -
19990316014 5046 G-A V-I MT-ND2 - -
19990316015 5054 G-A syn MT-ND2 - -
19990316016 5390 A-G syn MT-ND2 - -
19990316017 5393 T-C syn MT-ND2 - -
19990316018 5485 T-C I-T MT-ND2 - -
19990316019 5655 T-C noncod MT-TA - -
19990316020 6152 T-C syn MT-CO1 - -
19990316021 6548 C-T syn MT-CO1 - -
19990316022 6663 A-G I-V MT-CO1 - -
19990316023 6827 T-C syn MT-CO1 - -
19990316024 6989 A-G syn MT-CO1 - -
19990316025 7146 A-G T-A MT-CO1 - -
19990316026 7158 A-G I-V MT-CO1 - -
19990316027 7175 T-C syn MT-CO1 - -
19990316028 7256 C-T syn MT-CO1 - -
19990316029 7274 C-T syn MT-CO1 - -
19990316030 7389 T-C Y-H MT-CO1 - -
19990316031 7819 C-A syn MT-CO2 - -
20060518007 7864 C-T syn MT-CO2 Epilepsy -
19990316032 8205 T-A M-K MT-CO2 - -
20040607001 8271 A-G non-coding MT-NC7 Subfertile -
19990308001 8519 G-A E-K MT-ATP8 MELAS plus other symptoms -
19990316033 8857 G-T G-C MT-ATP6 - -
19990316034 8932 C-T P-S MT-ATP6 - -
20040811001 9152 T-C I-T MT-ATP6 - -
20040811002 9163 G-A V-I MT-ATP6 - -
19990316035 10873 T-C syn MT-ND4 - -
19990316036 10876 A-G syn MT-ND4 - -
19990316037 10978 A-G syn MT-ND4 - -
19990316038 11016 G-A S-N MT-ND4 - -
19990316039 11167 A-G syn MT-ND4 - -
19990316040 11470 A-G syn MT-ND4 - -
19990316041 11732 T-C syn MT-ND4 - -
19990906001 12573 C-T syn MT-ND5 - -
19990316043 13789 T-C T-H MT-ND5 - -
19990316044 13880 C-A S-Y MT-ND5 - -
19990316045 14007 A-G syn MT-ND5 - -
19990316046 14037 A-G syn MT-ND5 - -
19990316047 14142 C-T syn MT-ND5 - -
19990316048 14169 C-T E-N MT-ND6 - -
19990316049 14178 T-C I-V MT-ND6 - -
19990316050 14203 A-G syn MT-ND6 - -
20040803003 14249 G-A A-V MT-ND6 LHON -
20040803002 14284 C-T syn MT-ND6 LHON -
20040803001 14634 T-C M-V MT-ND6 LHON -
19990316051 14757 T-C M-T MT-CYB - -
19990316052 14768 A-G N-D MT-CYB - -
19990316053 14793 A-G H-R MT-CYB - -
20020529001 15487 A-T syn MT-CYB Exercise Intolerance -
19990316055 16051 A-G noncod D-Loop - -
20020507001 16147 C-A noncod D-Loop Breast Tumor -
20041130001 16176 C- A non-coding Control Region Friedreich's Ataxia -
20071014001 8529 G-A W-Ter MT-ATP8 Apical HCM .
20071014002 8529 G-A syn MT-ATP6 . .
20050308004 735 A-G rRNA MT-RNR1 Deafness Africain
20050308003 742 T-C rRNA MT-RNR1 Normal Africain
20050308005 794 T-A rRNA MT-RNR1 Deafness Africain
20050313001 813 A-G rRNA MT-RNR1 Deafness Africain
20050308002 868 C-T rRNA MT-RNR1 Normal Africain
20050308001 954 C-T rRNA MT-RNR1 Normal Africain
20101005001 1640 A-G tRNA MT-TV MELAS , mitochondrial diabetes, bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, Africain
20111212002 3298 C-G tRNA MT-TL1 normal Africain
20091229002 3756 A-G syn MT-ND1 Breast Cancer Africain
20091229007 4755 T-C syn MT-ND2 Breast Cancer Africain
20091229008 5069 A-T M-I MT-ND2 Breast Cancer Africain
20091229009 5087 T-C syn MT-ND2 Breast Cancer Africain
20091229010 5096 T-C syn MT-ND2 Breast Cancer Africain
20091229012 5141 C-T syn MT-ND2 Breast Cancer Africain
20091229013 5144 C-T syn MT-ND2 Breast Cancer Africain
20091229014 5300 C-T syn MT-ND2 Breast Cancer Africain
20091229015 5372 A-G syn MT-ND2 Breast Cancer Africain
20101004002 6164 C-T syn MT-CO1 INFERTILE Africain
20110504004 6188 C-A syn MT-CO1 INFERTILITY Africain
20101004003 6614 T-C syn MT-CO1 INFERTILITY Africain
20101004004 6806 A-G syn MT-CO1 INFERTILITY Africain
20110504001 7572 T-C tRNA MT-TD INFERTILITY Africain
20110504002 8312 A-G tRNA MT-TK INFERTILITY Africain
20110504003 8413 A-G syn MT-ATP8 INFERTILITY Africain
20091229017 10816 A-G syn MT-ND4 Breast Cancer Africain
20091229018 10837 C-T syn MT-ND4 Breast Cancer Africain
20091229019 11287 T-C syn MT-ND4 Breast Cancer Africain
20091229020 11329 A-G syn MT-ND4 Breast Cancer Africain
20091229021 12400 A-G T-A MT-ND5 Breast Cancer Africain
20091229022 12542 C-T A-V MT-ND5 Breast Cancer Africain
20111213002 14788 T-G I-M MT-CYB normal Africain
20111213005 14828 T-G S-A MT-CYB normal Africain
20111214001 14835 G-C W-S MT-CYB Diabetes, Myopathy, hearing impairment Africain
20111213001 14836 A-G syn MT-CYB Diabetes, Myopathy, hearing impairment Africain
20111213004 14880 T-G I-S MT-CYB normal Africain
20111213003 14886 C-G T-Ter MT-CYB normal Africain
20120125001 14935 no AA change     diabetes myopathy and hearing impairement africain
20120125002 14936   S-A   diabetes myopathy and hearing impairement africain
20111213006 14949 A-C H-P MT-CYB normal Africain
20111213007 14954 A-G T-A MT-CYB normal Africain
20070609001 16041 A-G non-coding Control Region Leucodystrophy Africain
20070609002 16287 C-A non-coding Control Region Leigh Syndrome Africain
20070609003 16293 A-T non-coding Control Region Leigh Syndrome Africain
20090604001 581 A-C noncod MT-TF DIABETES Africain/caucasian
20090529003 6146 A-G syn MT-CO1 Infertility Africain/caucasian
20090529002 6216 T-C L1-L2 MT-CO1 Infertility Africain/caucasian
20090604002 6527 A-T M-I MT-CO1 DIABETES Africain/caucasian
20090529005 9007 A-T T-S MT-ATP6 Infertility Africain/caucasian
20090529001 15220 A-T no MT-CYB Infertility Africain/caucasian
20090529004 15283 T-C syn MT-CYB Infertility Africain/caucasian
20140721003 780 G-A rRNA MT-RNR1 Normal African
20100930001 6221 T-A syn MT-CO1 infertility African
20130303001 7762 G-A syn MT-CO2 Normal African
20140721001 7771 A-G syn MT-CO2 Normal African
20140721002 7775 A-G syn MT-CO2 Normal African
20140721006 7805 G-A V-I MT-CO2 Normal African
20140721004 7819 C-A syn MT-CO2 Normal African
20140721005 7837 T-C syn MT-CO2 Normal African
20140721007 7853 G-A V-I MT-CO2 Normal African
20140721008 7861 T-C syn MT-CO2 Normal African
20140721009 7912 G-A syn MT-CO2 Normal African
20140721010 7972 A-G syn MT-CO2 Normal African
20140721011 7984 G-A syn MT-CO2 Normal African
20140721012 8007 G-A A-G MT-CO2 Normal African
20140721013 8014 A-G syn MT-CO2 Normal African
20140721014 8017 C-A syn MT-CO2 Normal African
20140721015 8020 G-A syn MT-CO2 Normal African
20140721016 8027 G-A A-T MT-CO2 Normal African
20140721017 8047 T-C syn MT-CO2 Normal African
20140721018 8104 T-C syn MT-CO2 Normal African
20140721019 8152 G-A syn MT-CO2 Normal African
20140721020 8155 G-A syn MT-CO2 Normal African
20140721021 8188 G-A syn MT-CO2 Normal African
20091229006 4598 T-C syn MT-ND2 Breast Cancer African, Amerindian
20001017010 10667 T-C syn MT-ND4L Lung Cancer African/American
20001017003 10688 G-A syn MT-ND4L Lung Cancer African/American
20001017002 10810 T-C syn MT-ND4 Lung Cancer African/American
20001017009 10816 A-G syn MT-ND4 Lung Cancer African/American
20001017006 11176 G-A syn MT-ND4 Lung Cancer African/American
20001017004 11302 C-T syn MT-ND4 Lung Cancer African/American
20001017007 11641 A-G syn MT-ND4 Lung Cancer African/American
20001017005 12020 C-T syn MT-ND4 Lung Cancer African/American
20070709001 1027 A-G rRNA MT-RNR1 Control Altaian
20091229004 3846 C-T syn MT-ND1 Breast Cancer Amerindian
20091229016 5420 T-C syn MT-ND2 Breast Cancer Amerindian
20050919001 722 C-G rRNA MT-RNR1 Normal Arabs
20050919002 723 A-G rRNA MT-RNR1 Normal Arabs
20050919003 827 A-G rRNA MT-RNR1 Normal Arabs
20050919004 1018 G-A rRNA MT-RNR1 Normal Arabs
20050919005 1189 T-C rRNA MT-RNR1 Normal Arabs
20050919006 1245 T-G rRNA MT-RNR1 Normal Arabs
20050919007 1721 C-T rRNA MT-RNR2 Normal Arabs
20050919008 1811 A-G rRNA MT-RNR2 Normal Arabs
20050919009 1837 C-A rRNA MT-RNR2 Normal Arabs
20050919010 1845 C-A rRNA MT-RNR2 Normal Arabs
20050919011 2355 A-G rRNA MT-RNR2 Normal Arabs
20050919012 2442 T-C rRNA MT-RNR2 Normal Arabs
20050919013 2451 A-C rRNA MT-RNR2 Normal Arabs
20050919014 2505 A-C rRNA MT-RNR2 Normal Arabs
20050919015 2706 A-G rRNA MT-RNR2 Normal Arabs
20050919032 3527 C-A A-D MT-ND1 Normal Arabs
20040210001 3531 G-A syn MT-ND1 NAION Arabs
20040210002 3594 C-T syn MT-ND1 NAION Arabs
20031029001 3645 T-C syn MT-ND1 LHON Arabs
20040210003 3768 A-G syn MT-ND1 NAION Arabs
20040210004 3834 G-A syn MT-ND1 NAION Arabs
20040210005 3847 T-C syn MT-ND1 NAION Arabs
20050919016 3847 T-C syn MT-ND1 Normal Arabs
20050809001 3866 T-C I-T MT-ND1 Normal Arabs
20040210006 3921 C-A syn MT-ND1 NAION Arabs
20050813001 4012 A-G T-A MT-ND1 Normal Arabs
20040912002 4013 C-G T-S MT-ND1 Normal Arabs
20040210007 4092 G-A syn MT-ND1 NAION Arabs
20040210008 4104 A-G syn MT-ND1 NAION Arabs
20050813014 4216 T-C Y-H MT-ND1 Normal Arabs
20040210009 4257 A-G syn MT-ND1 NAION Arabs
20050813002 4734 A-G T-A MT-ND2 Normal Arabs
20050813003 4767 A-G M-V MT-ND2 Normal Arabs
20050919017 4769 A-G syn MT-ND2 Normal Arabs
20050809002 4904 C-A I-M MT-ND2 Normal Arabs
20050809003 4917 A-G N-D MT-ND2 Normal Arabs
20050809004 5263 C-T A-V MT-ND2 Normal Arabs
20050813016 5460 G-A A-T MT-ND2 Normal Arabs
20050919018 5836 A-G non-coding MT-TY Normal Arabs
20050919019 5913 G-A D-N MT-CO1 Normal Arabs
20050919020 5981 T-C syn MT-CO1 Normal Arabs
20050809005 6040 A-G N-S MT-CO1 Normal Arabs
20040210010 6386 C-T syn MT-CO1 NAION Arabs
20050813004 7278 T-C F-L MT-CO1 Normal Arabs
20050809006 7521 G-T tRNA MT-TD Normal Arabs
20050809007 7646 A-C I-L MT-CO2 Normal Arabs
20050813005 8271 A-G non-coding MT-NC7 Normal Arabs
20040210011 8386 C-T syn MT-ATP8 NAION Arabs
20040210012 8559 C-T syn MT-ATP6 NAION Arabs
20040210026 8559 C-T P-L MT-ATP8 NAION Arabs
20050809008 8566 A-G syn MT-ATP8 Normal Arabs
20050809009 8566 A-G I-V MT-ATP6 Normal Arabs
20040210013 8577 A-G syn MT-ATP6 NAION Arabs
20050809010 8587 G-A V-M MT-ATP6 Normal Arabs
20050809011 8684 C-T T-I MT-ATP6 Normal Arabs
20050809012 8701 A-G T-A MT-ATP6 Normal Arabs
20070327001 8741 T-G L-R MT-ATP6 Normal Arabs
20070327002 8795 A-G H-R MT-ATP6 Normal Arabs
20070327004 8816 A-G Q-R MT-ATP6 Leigh Syndrome Arabs
20040210014 8865 G-A syn MT-ATP6 NAION Arabs
20050919033 8877 T-A F-L MT-ATP6 Normal Arabs
20070327005 9012 T-G syn MT-ATP6 Leigh Syndrome Arabs
20070327003 9024 A-G syn MT-ATP6 Normal Arabs
20070327006 9111 T-C syn MT-ATP6 Leigh Syndrome Arabs
20050809013 9337 T-C M-T MT-CO3 Normal Arabs
20050919034 9477 G-A V-I MT-CO3 Normal Arabs
20031029002 9509 T-C syn MT-CO3 LHON Arabs
20050809014 9539 A-T Q-H MT-CO3 Normal Arabs
20050813018 9675 A-C N-H MT-CO3 Normal Arabs
20031029003 9794 A-G syn MT-CO3 LHON Arabs
20040912003 9822 C-T L-F MT-CO3 Normal Arabs
20050813019 10031 T-C tRNA MT-TG Normal Arabs
20050813006 10034 T-C tRNA MT-TG Normal Arabs
20050919035 10079 A-C L-F MT-ND3 Normal Arabs
20070327007 10098 G-A A-T MT-ND3 Deafness Arabs
20050809015 10143 G-A G-S MT-ND3 Normal Arabs
20050813007 10159 C-G S-C MT-ND3 Normal Arabs
20050919021 10238 T-C syn MT-ND3 Normal Arabs
20050919022 10262 A-G syn MT-ND3 Normal Arabs
20070327008 10265 T-C syn MT-ND3 Leigh Syndrome Arabs
20050919036 10398 A-G T-A MT-ND3 Normal Arabs
20050809016 10668 G-A A-T MT-ND4L Normal Arabs
20050813008 10883 T-A F-I MT-ND4 Normal Arabs
20050813009 10885 T-A F-L MT-ND4 Normal Arabs
20001017008 11152 T-C syn MT-ND4 Lung Cancer Arabs
20040210022 11362 A-G syn MT-ND4 NAION Arabs
20040210023 11422 C-T syn MT-ND4 NAION Arabs
20040210024 11761 C-T syn MT-ND4 NAION Arabs
20050813010 11830 T-G F-L MT-ND4 Normal Arabs
20070327009 11875 T-C syn MT-ND4 Leigh Syndrome Arabs
20040210025 11935 T-C syn MT-ND4 NAION Arabs
20070327010 12609 T-C syn MT-ND5 Leigh Syndrome Arabs
20070327011 12714 T-C syn MT-ND5 Leigh Syndrome Arabs
20040210015 12822 A-G syn MT-ND5 NAION Arabs
20040210016 13188 C-T syn MT-ND5 NAION Arabs
20050919024 13617 T-C syn MT-ND5 Normal Arabs
20050919037 13637 A-G Q-R MT-ND5 Normal Arabs
20050813021 13708 G-A A-T MT-ND5 Normal Arabs
20050813011 13780 A-G I-V MT-ND5 Normal Arabs
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20040210017 14094 T-C syn MT-ND5 NAION Arabs
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20050813023 15257 G-A D-N MT-CYB Normal Arabs
20040210020 15265 C-T syn MT-CYB NAION Arabs
20050813024 15267 C-A T-N MT-CYB Normal Arabs
20050813025 15617 G-A V-I MT-CYB Normal Arabs
20040210021 15679 A-G syn MT-CYB NAION Arabs
20050919026 15904 C-T tRNA MT-TT Normal Arabs
20050813013 15928 G-A tRNA MT-TT Normal Arabs
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19990308004 8584 G-A A-T MT-ATP6 DIDMOAD Asian
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20030529047 81 G-C non-coding Control Region Oral Cancer Asian Indian
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20030529048 121 G-C non-coding Control Region Oral Cancer Asian Indian
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20090315007 3376 G-A E-K MT-ND1 Uterine Leiomyomas Asian Indian
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20140731001 4927 T-C L-P MT-ND2 CAD Asian Indian
20140731002 5015 C-T syn MT-ND2 CAD Asian Indian
20140730003 6576 G-A G-Term MT-CO1 CAD+T2DM Asian Indian
20140730004 6677 A-G syn MT-CO1 CAD+T2DM Asian Indian
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20041210006 7954 T-C syn MT-CO2 Oral Cancer Asian Indian
20041210014 7961 T-C syn MT-CO2 Oral Cancer Asian Indian
20041210012 7993 T-C syn MT-CO2 Oral Cancer Asian Indian
20041210010 8206 G-A syn MT-CO2 Oral Cancer Asian Indian
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20140730006 10331 C-T syn MT-ND3 CAD+T2DM Asian Indian
20140731003 10592 C-T syn MT-ND4L CAD Asian Indian
20140730007 10668 G-A A-T MT-ND4L CAD+T2DM Asian Indian
20040209002 10873 T-C syn MT-ND4 Oral Cancer Asian Indian
20140730008 10888 C-A N-K MT-ND4 CAD+T2DM Asian Indian
20040209003 11016 G-A S-N MT-ND4 Oral Cancer Asian Indian
20040209030 11023 A-G syn MT-ND4 Oral Cancer Asian Indian
20140730009 11081 A-G M-V MT-ND4 CAD+T2DM Asian Indian
20040209004 11083 A-G syn MT-ND4 Oral Cancer Asian Indian
20040209031 11215 C-T syn MT-ND4 Oral Cancer Asian Indian
20040209033 11332 C-T syn MT-ND4 Oral Cancer Asian Indian
20140730010 11336 A-C N-H MT-ND4 CAD+T2DM Asian Indian
20040209032 11339 T-C syn MT-ND4 Oral Cancer Asian Indian
20040209018 11467 A-G syn MT-ND4 Oral Cancer Asian Indian
20140730012 11528 A-C M-L MT-ND4 CAD+T2DM Asian Indian
20040209005 11719 G-A syn MT-ND4 Oral Cancer Asian Indian
20040209006 11855 A-C N-H MT-ND4 Oral Cancer Asian Indian
20140731004 12437 A-C H-P MT-ND5 CAD+T2DM Asian Indian
20140731005 12578 A-C K-T MT-ND5 CAD+T2DM Asian Indian
20140731006 12581 T-C L-P MT-ND5 CAD+T2DM Asian Indian
20140731007 12611 T-C V-A MT-ND5 CAD+T2DM Asian Indian
20140731009 15054 A-G Y-C MT-CYB CAD+T2DM Asian Indian
20140731010 15480 T-G F-C MT-CYB CAD+T2DM Asian Indian
20140731011 15585 T-G I-S MT-CYB CAD+T2DM Asian Indian
20140731012 15609 T-G L-R MT-CYB CAD+T2DM Asian Indian
20140731013 15785 T-A F-I MT-CYB CAD+T2DM Asian Indian
20140731015 15869 A-T K-Term MT-CYB CAD+T2DM Asian Indian
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20030215001 16054 A-C non-coding Control Region Oral Cancer Asian Indian
20030528102 16069 C-T non-coding Control Region Oral Cancer Asian Indian
20030529024 16099 G-T non-coding Control Region Oral Cancer Asian Indian
20030529007 16100 A-G non-coding Control Region Oral Cancer Asian Indian
20030529033 16102 T-A non-coding Control Region Oral Cancer Asian Indian
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20030527012 16172 T-C non-coding Control Region Oral Cancer Asian Indian
20030529025 16187 C-T non-coding Control Region Oral Cancer Asian Indian
20030529009 16201 C-T non-coding Control Region Oral Cancer Asian Indian
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20030528105 16235 A-G non-coding Control Region Oral Cancer Asian Indian
20030528138 16256 C-T non-coding Control Region Oral Cancer Asian Indian
20030528106 16261 C-T non-coding Control Region Oral Cancer Asian Indian
20030527014 16270 C-T non-coding Control Region Oral Cancer Asian Indian
20030527015 16274 G-A non-coding Control Region Oral Cancer Asian Indian
20030528107 16294 C-T non-coding Control Region Oral Cancer Asian Indian
20030215002 16304 T-C non-coding Control Region Oral Cancer Asian Indian
20030215003 16311 T-C non-coding Control Region Oral Cancer Asian Indian
20030527016 16319 G-A non-coding Control Region Oral Cancer Asian Indian
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20030528150 16390 G-A non-coding Control Region Oral Cancer Asian Indian
20030529035 16391 G-A non-coding Control Region Oral Cancer Asian Indian
20030528139 16399 A-G non-coding Control Region Oral Cancer Asian Indian
20030529026 16518 G-T non-coding Control Region Oral Cancer Asian Indian
20030527018 16519 T-C non-coding Control Region Oral Cancer Asian Indian
20030527019 16524 A-C non-coding Control Region Oral Cancer Asian Indian
20041220001 2706 A-G rRNA MT-RNR2 Oral Cancer Asian Indian - Gujarati
20030527035 178 A-G non-coding Control Region Oral Cancer Asian Indian- Bengali
20030527038 228 G-C non-coding Control Region Oral Cancer Asian Indian- Bengali
20030527039 238 A-T non-coding Control Region Oral Cancer Asian Indian- Bengali
20030527040 239 T-G non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528001 263 A-C non-coding Control Region Oral Cancer Asian Indian- Bengali
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20030528003 265 T-C non-coding Control Region Oral Cancer Asian Indian- Bengali
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20030528006 273 C-A non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528007 283 A-T non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528008 284 A-T non-coding Control Region Oral Cancer Asian Indian- Bengali
20030528009 287 A-T non-coding Control Region Oral Cancer Asian Indian- Bengali
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20030527029 16033 G-A non-coding Control Region Oral Cancer Asian Indian- Bengali
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20030527032 16239 C-T non-coding Control Region Oral Cancer Asian Indian- Bengali
20030527033 16289 A-G non-coding Control Region Oral Cancer Asian Indian- Bengali
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20030528092 16418 T-C non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030528121 16438 G-A non-coding Control Region Oral Cancer Asian Indian- Gujarati
20030528118 174 C-A non-coding Control Region Oral Cancer Asian Indian- Malayali
20030528119 178 A-T non-coding Control Region Oral Cancer Asian Indian- Malayali
20030528117 16318 A-C non-coding Control Region Oral Cancer Asian Indian- Malayali
20030528078 33 C-G non-coding Control Region Oral Cancer Asian Indian- Marathi
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20030528022 81 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
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20030528024 94 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
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20030528025 109 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
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20030528028 152 T-A non-coding Control Region Oral Cancer Asian Indian- Marathi
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20030528054 195 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528056 226 T-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528057 229 G-A non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528058 231 C-A non-coding Control Region Oral Cancer Asian Indian- Marathi
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20030528036 238 A-G non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528037 257 A-T non-coding Control Region Oral Cancer Asian Indian- Marathi
20030528038 16025 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
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20030528108 16093 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
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20030528077 16278 C-T non-coding Control Region Oral Cancer Asian Indian- Marathi
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20030528109 16298 T-C non-coding Control Region Oral Cancer Asian Indian- Marathi
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20030528069 97 G-C non-coding Control Region Oral Cancer Asian Indian- Muslim
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20030528085 260 G-C non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528086 263 A-G non-coding Control Region Oral Cancer Asian Indian- Muslim
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20030528062 16318 A-T non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528063 16362 T-G non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528064 16363 C-G non-coding Control Region Oral Cancer Asian Indian- Muslim
20030528127 91 C-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528128 102 A-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528129 103 G-A non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528130 104 C-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528131 114 C-T non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528132 122 C-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528133 125 T-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528134 142 T-C non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528135 144 C-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528136 172 T-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
20030528126 16098 A-G non-coding Control Region Oral Cancer Asian Indian- Sindhi
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20041210002 8251 G-A syn MT-CO2 Oral Cancer Asian Indian-Bengali
20041220006 2715 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Gujarati
20041210011 8266 A-T syn MT-CO2 Oral Cancer Asian Indian-Gujarati
20041210009 8212 C-T syn MT-CO2 Oral Cancer Asian Indian-Malayali
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
20041220003 2644 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Marathi
20041210003 7702 G-A syn MT-CO2 Oral Cancer Asian Indian-Marathi
20041210007 7837 T-C syn MT-CO2 Oral Cancer Asian Indian-Marathi
20041210004 7843 A-G syn MT-CO2 Oral Cancer Asian Indian-Marathi
20041210008 7999 T-C syn MT-CO2 Oral Cancer Asian Indian-Marathi
20041220005 1719 G-A rRNA MT-RNR2 Oral Cancer Asian Indian-Muslim
20041220004 1811 A-G rRNA MT-RNR2 Oral Cancer Asian Indian-Muslim
20041210005 8137 C-T syn MT-CO2 Oral Cancer Asian Indian-Muslim
20100908009 73 A-G non-coding Control Region Oral Submucous Fibrosis Asian-Bengali
20101227001 263 A-G non-coding Control Region Oral cancer Asian-Bengali
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20101227005 16145 G-A non-coding Control Region Oral cancer Asian-Bengali
20100908008 16189 T-C non-coding Control Region Oral cancer Asian-Bengali
20100908006 16223 C-T non-coding Control Region Oral cancer Asian-Bengali
20100908003 16311 T-C non-coding Control Region Oral cancer Asian-Bengali
20091005002 16246 A-T noncod D-Loop Normal Banjar Malays
20091005005 16301 C-T noncod D-Loop Normal Banjar Malays
20060803001 8463 A-G Y-C MT-ATP8 Down's syndrome Belarusian
20040209007 12007 G-A syn MT-ND4 Oral Cancer Bengali
20000224001 16187 C-G noncod D-Loop - Bisaya
20091005001 16111 C-G noncod D-Loop Normal Bugis Malays
20140214003 93 A-G non-coding Control Region Control Caucasian
20140214005 189 A-G non-coding Control Region isolated complex IV deficiency Caucasian
20140214011 189 A-G non-coding Control Region isolated complex IV deficiency Caucasian
20140214014 189 A-G non-coding Control Region   Caucasian
20140214018 203 G-A non-coding Control Region   Caucasian
19990218005 216 T-C noncod D-Loop Hearing Loss Caucasian
20070527004 220 T-A non-coding Control Region Breast Cancer Caucasian
20050106002 262 C-T non-coding Control Region Normal Caucasian
20050106003 269 C-T non-coding Control Region Normal Caucasian
20040327001 288 A-G non-coding Control Region Pancreatic Ductal Adenocarcinoma Caucasian
20050106004 295 C-A non-coding Control Region Normal Caucasian
20050106005 324 C-T non-coding Control Region Normal Caucasian
19990218006 340 C-T noncod D-Loop Hearing Loss Caucasian
20050419001 480 T-C non-coding Control Region LHON Caucasian
20050106007 489 T-G non-coding Control Region Normal Caucasian
20140214007 496 C-T non-coding Control Region   Caucasian
20021231001 512 A-G noncod D-Loop Leigh Syndrome Caucasian
20071219001 689 T-C rRNA MT-RNR1 Normal Caucasian
20111230001 712 C-A rRNA MT-RNR1 non-syndromic hearing impairment Caucasian
20071219002 751 A-G rRNA MT-RNR1 Normal Caucasian
20111230002 786 G-A rRNA MT-RNR1 progressive non syndromic hearing loss Caucasian
20091029001 1453 A-G noncod MT-RNR1 Hearing loss Caucasian
20071219004 1556 C-T rRNA MT-RNR1 Normal Caucasian
20060130005 1703 C-T rRNA MT-RNR2 Mental Retardation Caucasian
20070207001 1843 T-C rRNA MT-RNR2 Centenarian Caucasian
20070207002 1940 A-G rRNA MT-RNR2 Centenarian Caucasian
20070207003 2623 A-G rRNA MT-RNR2 Centenarian Caucasian
20021231003 3206 C-T noncod MT-RNR2 MELAS Caucasian
20051007006 3221 A-G rRNA MT-RNR2 - Caucasian
20140214021 3242 G-A tRNA MT-TL1 CPEO Caucasian
20140214022 3244 G-A tRNA MT-TL1 CPEO Caucasian
20060518004 3342 C-T syn MT-ND1 - Caucasian
20100429001 3355 A-G M-V MT-ND1 myopathy Caucasian
20021231013 3360 A-G syn MT-ND1 Leucodystrophy Caucasian
20040217001 3507 C-T syn MT-ND1 - Caucasian
20000825002 3547 A-G I-V MT-ND1 Pancreatic Cancer Caucasian
20051031001 3579 A-G syn MT-ND1 Encephalomyopathy Caucasian
20090714006 3609 C-T no MT-ND1 Aminoglycoside-induced hearing loss Caucasian
20000825017 3635 G-A S-N MT-ND1 Pancreatic Cancer Caucasian
20000825018 3670 G-A A-T MT-ND1 Pancreatic Cancer Caucasian
20000825019 3670 G-A A-T MT-ND1 Pancreatic Cancer Caucasian
20091229001 3710 C-T A-V MT-ND1 Breast Cancer Caucasian
20020409001 3741 C-T syn MT-ND1 MELAS Caucasian
20020410001 3741 C-T syn MT-ND1 MELAS Caucasian
20091229003 3803 T-C I-T MT-ND1 Breast Cancer Caucasian
20060518005 3943 A-G I-V MT-ND1 - Caucasian
20000825009 3992 C-T T-M MT-ND1 Pancreatic Cancer Caucasian
20080414003 4017 C-T syn MT-ND1 Hypertrophic Cardiomyopathy Caucasian
20000825010 4024 A-G T-A MT-ND1 Pancreatic Cancer Caucasian
20060518006 4065 A-G syn MT-ND1 - Caucasian
20070527005 4246 A-G I-V MT-ND1 Breast Cancer Caucasian
20050318001 4310 A-G tRNA MT-TI - Caucasian
19990721001 4315 A-G noncod MT-TI Psychomotor retardation Caucasian
20091229005 4512 G-A A-T MT-ND2 Breast Cancer Caucasian
20000825014 4793 A-G syn MT-ND2 Pancreatic Cancer Caucasian
20000825003 4820 G-A syn MT-ND2 Pancreatic Cancer Caucasian
20000825004 4977 T-C syn MT-ND2 Pancreatic Cancer Caucasian
20000825011 5004 T-C syn MT-ND2 Pancreatic Cancer Caucasian
20091229011 5134 A-G N-S MT-ND2 Breast Cancer Caucasian
20051007002 5315 A-G syn MT-ND2 Encephalomyopathy Caucasian
20000825015 5348 C-T syn MT-ND2 Pancreatic Cancer Caucasian
19990303003 6045 C-T syn MT-CO1 Hearing Loss Caucasian
20090129001 6060 A-G I-V MT-CO1 COPD Caucasian
20090129002 6140 C-G syn MT-CO1 COPD Caucasian
20060515001 6164 C-T syn MT-CO1 Progeria Caucasian
20090129003 6179 G-A syn MT-CO1 COPD Caucasian
20090129004 6299 A-G syn MT-CO1 COPD Caucasian
20090129005 6383 G-A syn MT-CO1 COPD Caucasian
20090129006 6410 C-T syn MT-CO1 COPD Caucasian
20000825005 6473 C-T syn MT-CO1 Pancreatic Cancer Caucasian
20060515002 6641 T-A syn MT-CO1 Progeria Caucasian
20111230004 7471 C-T tRNA MT-TS1 non syndromic hearing loss caucasian
20111230006 7746 A-G N-S MT-CO2 non-syndromic hearing impairment Caucasian
20060130003 7774 C-T syn MT-CO2 Encephalopathy Caucasian
20111230005 7792 C-T syn MT-CO2 non-syndromic hearing loss Caucasian
20050928001 7861 T-C syn MT-CO2 Encephalomyopathy Caucasian
20140214002 7989 T-C L-P (Leu135Pro) MT-CO2 control Caucasian
20060518001 8084 A-T T-A MT-CO2 Myoclonic Epilepsy Caucasian
20090129007 8137 C-T syn MT-CO2 COPD Caucasian
20080110006 8227 T-C syn MT-CO2 Leigh syndrome Caucasian
20040608001 8236 A-G syn MT-CO2 Subfertile Caucasian
20040608002 8309 C-T tRNA MT-TK Subfertile Caucasian
20040608003 8350 A-G tRNA MT-TK - Caucasian
20040608004 8388 T-C V-A MT-ATP8 - Caucasian
20060518002 8389 A-G syn MT-ATP8 - Caucasian
20120404001 8399 A-G T-A MT-ATP8 disregulation of the metabolism of fatty acids Caucasian
20021231004 8414 C-T L-F MT-ATP8 MERRF Caucasian
20021231005 8431 C-T S-L MT-ATP8 MERRF Caucasian
20030723002 8527 A-G M-V MT-ATP6 Encephalomyopathy plus other symptoms Caucasian
20030723003 8527 A-G syn MT-ATP8 Encephalomyopathy plus other symptoms Caucasian
20060130006 8538 T-C syn MT-ATP6 Myopathy Caucasian
20060130007 8538 T-C I-T MT-ATP8 Myopathy Caucasian
20060130004 8573 G-A G-D MT-ATP6 Encephalopathy Caucasian
20050917001 8598 T-C syn MT-ATP6 Myoclonic Epilepsy Caucasian
20050609001 8705 T-C M-T MT-ATP6 Myopathy Caucasian
20051007007 8750 T-C L-S MT-ATP6 Myopathy Caucasian
20090710001 8820 A-G syn MT-ATP6 Infertility Caucasian
20080111001 8860 A-G T-A MT-ATP6 Abdominal Aortic Aneurysm Caucasian
20050916001 8867 T-C I-T MT-ATP6 Myoclonic Epilepsy, bilateral ptosis Caucasian
20051007003 8901 A-G syn MT-ATP6 Encephalomyopathy Caucasian
20030723001 8932 C-T P-S MT-ATP6 Encephalomyopathy plus other symptoms Caucasian
20000825006 8957 T-C I-T MT-ATP6 Pancreatic Cancer Caucasian
19990721002 9007 A-G T-A MT-ATP6 MELAS-like Caucasian
20080729001 9058 A-G T-A MT-ATP6 Normal Caucasian
20090714007 9186 C-A syn MT-ATP6 Aminoglycoside-induced hearing loss Caucasian
20090129008 9242 A-G syn MT-CO3 COPD Caucasian
19990323003 9254 A-G syn MT-CO3 Myopathy Caucasian
19990323002 9293 C-T syn MT-CO3 Ophthalmoplegia,Deafness Caucasian
20030925001 9300 G-A A-T MT-CO3 Myopathy Caucasian
20060518003 9338 A-G syn MT-CO3 Myopathy Caucasian
19990323001 9380 G-A syn MT-CO3 Myopathy Caucasian
20021231011 9410 A-G syn MT-CO3 Myopathy Caucasian
20080414004 9425 A-G syn MT-CO3 Hypertrophic Cardiomyopathy Caucasian
20090129009 9590 A-G syn MT-CO3 COPD Caucasian
20070527003 9621 G-A A-T MT-CO3 Breast Cancer Caucasian
20040217002 9632 A-G syn MT-CO3 Encephalopathy, LHON Caucasian
20140214008 9769 T-C I-T (Ile188Thr) MT-CO3 myasthenia gravis Caucasian
20090129010 9806 C-T syn MT-CO3 COPD Caucasian
20090129011 9869 C-G syn MT-CO3 COPD Caucasian
20090129013 9933 C-A H-N MT-CO3 COPD Caucasian
20090129014 9987 T-A S-T MT-CO3 COPD Caucasian
20000825012 10044 A-G noncod MT-TG Pancreatic Cancer Caucasian
20001017011 10115 T-C syn MT-ND3 Lung Cancer Caucasian
20050928002 10230 G-C V-L MT-ND3 Optic Neuropathy, visual loss Caucasian
20140318001 10394 C-A D-E MT-ND3 Cardiomyopathy caucasian
20091228001 10649 T-C syn MT-ND4L NSHL Caucasian
20140214009 10866 T-C I-T (Ile36Thr) MT-ND4 myasthenia gravis Caucasian
20140214015 11050 T-C S-S MT-ND4   Caucasian
20000825007 11177 C-T P-S MT-ND4 Pancreatic Cancer Caucasian
20051225001 11260 T-A syn MT-ND4 LHON Caucasian
20040825001 11404 A-G syn MT-ND4 Postural Tachycardia Syndrome (POTS) Caucasian
20070527008 11503 C-G syn MT-ND4 Breast Cancer Caucasian
20070527006 11567 A-G I-V MT-ND4 Breast Cancer Caucasian
20060130002 11674 C-T syn MT-ND4 Mental Retardation Caucasian
20051007005 11776 T-G S-Ter MT-ND4 - Caucasian
20040825002 11930 A-G I-V MT-ND4 Postural Tachycardia Syndrome (POTS) Caucasian
20140214001 12071 T-C Phe438Pro MT-ND4 control Caucasian
20080416001 12133 C-T syn MT-ND4 MELAS Caucasian
20070527001 12251 A-G tRNA MT-TS2 Breast Cancer Caucasian
20050803001 12557 C-T T-I MT-ND5 Encephalomyopathy Caucasian
20051007001 12621 C-A F-L MT-ND5 Encephalopathy Caucasian
20061011001 12622 G-A V-I MT-ND5 Leigh Syndrome Caucasian
20021231002 13020 T-C syn MT-ND5 Myopathy, Diabetes, CPEO, Deafness Caucasian
20110105001 13077 C-T Leu247Leu MT-ND5 NSHL Caucasian
20090910001 13468 C-A L-M MT-ND5 Aminoglycoside-induced hearing loss Caucasian
20061011002 13511 A-T K-M MT-ND5 Leigh Syndrome Caucasian
20000825020 13780 A-G I-V MT-ND5 Pancreatic Cancer Caucasian
20000825001 13943 C-T M-V MT-ND5 Pancreatic Cancer Caucasian
20040726001 14207 G-A T-I MT-ND6 LHON Caucasian
19990324002 14470 T-C syn MT-ND6 MELAS(3243) Caucasian
20060130001 14552 A-G V-A MT-ND6 Leucodystrophy Caucasian
20000825013 14582 A-G V-A MT-ND6 Pancreatic Cancer Caucasian
20021231012 14849 T-C S-P MT-CYB Septo-optic Dysplasia Caucasian
20001016001 14872 C-T syn MT-CYB Myopathy Caucasian
20020410002 15034 A-G syn MT-CYB Myopathy (unknown), Bilateral Ptosis Caucasian
20000825016 15045 G-A R-Q MT-CYB Pancreatic Cancer Caucasian
20080414001 15064 A-G syn MT-CYB Cardiomyopathy Caucasian
19990323004 15088 C-T syn MT-CYB Myopathy Caucasian
19990324003 15115 T-C syn MT-CYB Ocular Myopathy Caucasian
19990507001 15244 A-G syn MT-CYB Ocular Myopathy Caucasian
20020410003 15310 T-C syn MT-CYB Myopathy (unknown), Bilateral Ptosis Caucasian
20040217004 15519 T-C L-P MT-CYB Infarct Cerebri Multiplex, more Caucasian
19990324001 15721 T-C syn MT-CYB LHON Caucasian
20000825008 15734 G-A A-T MT-CYB Pancreatic Cancer Caucasian
20000825021 15758 A-G I-V MT-CYB Pancreatic Cancer Caucasian
20040217003 15763 A-G syn MT-CYB Encephalomyopathy Caucasian
19990721003 15772 A-G syn MT-CYB Myopathy Caucasian
20100212002 16079 C-T non-coding Control Region Non-syndromic hearing loss Caucasian
20001017001 16170 A-G noncod D-Loop Lung Cancer Caucasian
20050419002 16174 C-A non-coding Control Region LHON Caucasian
20050419003 16176 C-A non-coding Control Region LHON Caucasian
20050106001 16190 C-A non-coding Control Region Normal Caucasian
20050419004 16219 A-T non-coding Control Region LHON Caucasian
20050309001 16239 C-A non-coding Control Region Myopathy, tremor Caucasian
20050419005 16242 C-A non-coding Control Region LHON Caucasian
20040327003 16279 C-T non-coding Control Region Pancreatic Ductal Adenocarcinoma Caucasian
20140214006 16428 G-A non-coding Control Region isolated complex IV deficiency Caucasian
20070527002 16504 G-A non-coding Control Region Breast Cancer Caucasian
20070527007 16527 C-T non-coding Control Region Breast Cancer Caucasian
20080811002 13474 T-C syn MT-ND5 Leigh Syndrome Caucasian, Jew
20120110001 3321       Cardiomyopathy Caucasian/Africain
20100920002 3395 A-G Y-C MT-ND1 Cardiomyopathy and hearing-loss Caucasian/Africain
20100519001 3861 A-G syn MT-ND1 Leigh Syndrome Caucasian/Africain
20080414002 4080 T-C syn MT-ND1 Cardiomyopathy Caucasian/Africain
20080117001 4313 T-C noncod MT-TI Deafness Caucasian/Africain
20100921001 4316 A-G tRNA MT-TI Cardiomyopathy and hearing-loss Caucasian/Africain
20070724001 4842 A-G T-A MT-ND2 Leigh Syndrome Caucasian/Africain
20070724003 4859 T-C syn MT-ND2 Leigh Syndrome Caucasian/Africain
20070724004 5453 A-G syn MT-ND2 Leigh Syndrome Caucasian/Africain
20070724005 5523 T-G non-coding MT-TW Leigh Syndrome Caucasian/Africain
20070724006 5556 G-A non-coding MT-TW Leigh Syndrome Caucasian/Africain
20070724007 5559 A-G non-coding MT-TW Leigh Syndrome Caucasian/Africain
20070724008 5618 T-G tRNA MT-TA Leigh Syndrome Caucasian/Africain
20070724009 5855 A-G non-coding MT-TY Leigh Syndrome Caucasian/Africain
20080117002 7372 T-C M-T MT-CO1 Deafness Caucasian/Africain
20120110004 7498       Cardiomyopathy Caucasian/Africain
20120110003 7502       Cardiomyopathy Caucasian/Africain
20120110006 8047       Cardiomyopathy Caucasian/Africain
20070724010 8227 T-C syn MT-CO2 Leigh Syndrome Caucasian/Africain
20131120001 8241 T-G F-C MT-CO2 DIABETES Caucasian/Africain
20070724011 8248 A-G syn MT-CO2 Leigh Syndrome Caucasian/Africain
20070724012 8380 T-C syn MT-ATP8 Leigh Syndrome Caucasian/Africain
20070724013 8411 A-G M-V MT-ATP8 Leigh Syndrome Caucasian/Africain
20080117003 8649 A-G syn MT-ATP6 Deafness Caucasian/Africain
20080120004 8682 A-G syn MT-ATP6 Leigh-like syndrome Caucasian/Africain
20080117004 9329 G-A syn MT-CO3 Deafness Caucasian/Africain
20080120001 9335 C-T syn MT-CO3 KSS Caucasian/Africain
20120110002 9404       Leigh Syndrome Caucasian/Africain
20080117005 9467 T-C syn MT-CO3 Deafness Caucasian/Africain
20080117006 9495 T-C F-L MT-CO3 Deafness Caucasian/Africain
20120110005 9605       Cardiomyopathy Caucasian/Africain
20080117007 9617 A-G syn MT-CO3 Deafness Caucasian/Africain
20080117008 10308 C-T syn MT-ND3 Deafness Caucasian/Africain
20080120002 11362 A-G syn MT-ND4 KSS Caucasian/Africain
20080117010 11743 C-T syn MT-ND4 Deafness Caucasian/Africain
20080117009 11926 A-G syn MT-ND4 Deafness Caucasian/Africain
20121022005 1760       CAD patient Caucasian/Middle European
20121022003 2170       control/normal/healthy Caucasian/Middle European
20121022004 2412       control/normal/healthy Caucasian/Middle European
20121022002 15246       control/normal/healthy Caucasian/Middle European
20100729001 8682 A-G syn MT-ATP6 mitochondrial myopathy caucasienne
20110314001 3197 T-C rRNA MT-RNR2 LHON Caucasion
20110314002 14258 G-A P-L MT-ND6 LHON Caucasion
20140127001 14721 G-A tRNA MT-TE isolated complex IV deficiency Causacian
20140127002 15453 T-C L-P MT-CYB isolated complex III deficiency Causacian
20141116001 12350 C-A T 5 N MT-ND5 hearing loss + psychomotor delay Causasian / Africain
20000211004 125 T-G noncod D-Loop - Chinese
19990511001 9053 G-A syn MT-ATP6 Normal Chinese
20080810001 16525 A-G noncod D-Loop FAP Chinese
20080730003 16189 T-A noncod D-Loop - Chinese Han ethnic group
20060227001 12207 G-A tRNA MT-TS2 Mixed MELAS/MERRF Chinese mother and Caucasian father
20080730001 16183 A-G noncod D-Loop - Chinese Tu ethnic group
20080730002 16184 C-G noncod D-Loop - Chinese Tu ethnic group
20040809001 3528 C-T syn MT-ND1 Myopathy Chinese-China
20120907009 67 G-C noncod D-Loop   European
20120907006 74 T-G noncod D-Loop   European
20120907005 377         European
20120907002 2876         European
20120907001 5307         European
20120907008 5810         European
20120907010 7153         European
20120907016 7798         European
20120907013 8904         European
20120907015 8954         European
20120907007 9203         European
20120907011 13578         European
20120907012 13746         European
20120907014 13746         European
20120907003 13847         European
20120907017 15823         European
20101129004 3316 G-A A-T MT-ND1 Nonsyndromic Hearing Loss FARS
20040209001 10817 A-T K-Term MT-ND4 Oral Cancer GUJARATI
20040209054 11050 T-C syn MT-ND4 Normal GUJARATI
20040209047 11314 A-C E-D MT-ND4 Normal GUJARATI
20040209055 11808 C-A T-N MT-ND4 Normal GUJARATI
20040209048 11827 T-C syn MT-ND4 Normal GUJARATI
20140217002 217 T-C non-coding Control Region sCJD Han Chinese
20140217001 235 A-G non-coding Control Region sCJD Han Chinese
20140218001 5800 A-G tRNA MT-TC Kallmann Syndrome Han Chinese
20140217018 6228 C-T L-F MT-CO1 sCJD Han Chinese
20140217003 9732 C-T L-L MT-CO3 sCJD Han Chinese
20140217004 9974 C-T I-I MT-CO3 sCJD Han Chinese
20140217006 11375 A-C K-Q MT-ND4 sCJD Han Chinese
20140217005 11407 C-T L-L MT-ND4 sCJD Han Chinese
20140217007 11467 A-G L-L MT-ND4 sCJD Han Chinese
20140217009 12297 T-C tRNA MT-TL2 sCJD Han Chinese
20140217010 12308 A-G tRNA MT-TL2 sCJD Han Chinese
20140217011 12326 A-G tRNA MT-TL2 sCJD Han Chinese
20140217008 12372 G-A L-L MT-ND5 sCJD Han Chinese
20140217012 12473 T-C I-T MT-ND5 sCJD Han Chinese
20140217013 12631 T-C S-P MT-ND5 sCJD Han Chinese
20140217019 14067 C-T T-T MT-ND5 sCJD Han Chinese
20140217014 14457 T-C M-V MT-ND6 sCJD Han Chinese
20140217015 14753 C-T P-S MT-CYB sCJD Han Chinese
20140217016 14980 C-A I-M MT-CYB sCJD Han Chinese
20140217017 15765 G-A G-E MT-CYB sCJD Han Chinese
20081105001 1453 A-G noncod MT-RNR1 Non-Syndromic Hearing Impairment (NSHI) Hindu
20081106001 1462 G-A noncod MT-RNR1 Non-Syndromic Hearing Impairment (NSHI) Hindu
20081106002 1508 C-T noncod MT-RNR1 Non-Syndromic Hearing Impairment (NSHI) Hindu
19990218007 3552 T-A syn MT-ND1 LHON Hispanic
19990218008 9545 A-G syn MT-CO3 LHON Hispanic
20110421002 14884 C-T syn MT-CYB   Hispanic Father, Caucasian Mother
20110421003 15002 G-A G-S MT-CYB   Hispanic Father, Caucasian Mother
20000211002 195 T-A noncod D-Loop - Indian
20000211003 246 T-C noncod D-Loop - Indian
20000211001 482 T-C noncod D-Loop - Indian
20000914002 485 T-C noncod D-Loop - Indian
20100908005 16261 C-T non-coding Control Region Oral cancer Indian- Bengali
20100908001 16325 T-C non-coding Control Region Oral cancer Indian-Bengali
20100908002 16391 G-T non-coding Control Region Oral cancer Indian-Bengali
20060605004 16327 C-A non-coding Control Region Normal Indigenous group-Bidayuh
20060605001 16017 T-C tRNA MT-TP Normal Indigenous group-Temuan
20060605005 267 T-C non-coding Control Region Normal Indigenous Jehai
20120119001 650 T-C Noncod MT-TF normal Indonesian
20120124001 3873 A-G syn MT-ND1 Normal Indonesian
20120124002 5213       Normal Indonesian
20120124003 5213 C-G syn MT-ND2 Normal Indonesian
20120124004 6863 A-G syn MT-CO1 Normal Indonesian
20120124005 7894 A-G syn MT-CO2 Normal Indonesian
20120124006 8652 A-G syn MT-ATP6 Normal Indonesian
20120124007 8653 A-G syn MT-ATP6 Normal Indonesian
20120124008 10373 G-C syn MT-ND3 Normal Indonesian
20120124009 15211 C-T syn MT-CYB Normal Indonesian
20160806004 96 C-A   CR:HVS2   Iranian
20120618005 3893 C-G T-S MT-ND1 LHON Iranian
20120618004 4539 T-A S-T MT-ND2 LHON Iranian
20120618015 4596 G-A V-I MT-ND2 LHON Iranian
20120618006 4932 C-A L-I MT-ND2 LHON Iranian
20120618002 4941 T-A S-T MT-ND2 LHON Iranian
20160806002 8539 C-A ATP6: L-M, ATP8: I-M ATP8, ATP6 presbycusis Iranian
20160806003 8682 A-G sym ATP6 Presbycusis Iranian
20090609002 8862 A-G syn MT-ATP6 Epilepsy Iranian
20120618003 10399 C-T A-T MT-ND3 LHON Iranian
20120618007 10557 C-A L-I MT-ND4L LHON Iranian
20120618008 12012 C-A S-STOP MT-ND4 LHON Iranian
20120618001 12851 T-A V-I MT-ND5 LHON Iranian
20120618016 13255       LHON Iranian
20120618017 13255 T-A S-T MT-ND5 LHON Iranian
20120618014 13663 A-G I-V MT-ND5 LHON Iranian
20120618009 13934 C-T T-I MT-ND5 LHON Iranian
20120618010 14020 A-G SYN MT-ND5 LHON Iranian
20120618012 14353 T-C SYN MT-ND6 LHON Iranian
20160806005 15864 A-G E-G CYB   Iranian
20160806006 15906 A-T   tRNA.T   Iranian
20160806007 16046 T-G   CR:HVS1/HV1   Iranian
20000914003 560 C-T noncod D-Loop - Kadazan-Dusun
20030428001 47 G-A non-coding Control Region Normal Kazhakh
20030428002 75 G-A non-coding Control Region Normal Kazhakh
20030428003 16318 A-C non-coding Control Region Normal Kazhakh
20091006002 447 C-G noncod D-Loop Normal Kedah Malays
20091005003 16312 A-G noncod D-Loop Normal Kedah Malays
20091005007 16111 C-A noncod D-Loop Normal Kelantan Malays
20110204001 6416 A-G syn MT-CO1 sensorimotor neuropathy, myopathy and hearing loss Korean
20021231006 126 T-C noncod D-Loop Normal Madia Gond tribe
20021231007 163 A-G noncod D-Loop Normal Madia Gond tribe
20021231008 186 C-T noncod D-Loop Normal Madia Gond tribe
20021231009 189 T-C noncod D-Loop Normal Madia Gond tribe
20021231010 294 T-C noncod D-Loop Normal Madia Gond tribe
20091019002 129 T-C noncod D-Loop Normal Malay
20091019001 188 A-G noncod D-Loop Normal Malay
20000211005 329 G-A noncod D-Loop - Malay
20091006001 16207 A-G noncod D-Loop Normal Malay
20000211008 16317 A-C noncod D-Loop - Malay
20040209023 11518 G-A syn MT-ND4 Oral Cancer MALAYALI
20040209044 10823 A-G M-V MT-ND4 Normal MARATHI
20040209011 10826 A-G I-V MT-ND4 Oral Cancer MARATHI
20040209014 10850 A-C S-R MT-ND4 Oral Cancer MARATHI
20040209036 10969 C-T syn MT-ND4 Oral Cancer MARATHI
20040209037 11054 C-A L-M MT-ND4 Oral Cancer MARATHI
20040209038 11067 A-T Q-L MT-ND4 Oral Cancer MARATHI
20040209039 11070 T-A I-N MT-ND4 Oral Cancer MARATHI
20040209040 11073 C-T S-F MT-ND4 Oral Cancer MARATHI
20040209041 11074 C-T syn MT-ND4 Oral Cancer MARATHI
20040209012 11075 T-C syn MT-ND4 Oral Cancer MARATHI
20040209051 11083 A-G syn MT-ND4 Normal MARATHI
20040209015 11140 C-G I-M MT-ND4 Oral Cancer MARATHI
20040209050 11467 A-G syn MT-ND4 Normal MARATHI
20040209042 11530 A-G M-Term MT-ND4 Oral Cancer MARATHI
20040209046 11818 A-C syn MT-ND4 Normal MARATHI
20040209021 11914 G-A syn MT-ND4 Oral Cancer MARATHI
20040209022 11969 G-A A-T MT-ND4 Oral Cancer MARATHI
20040209045 12052 A-G syn MT-ND4 Normal MARATHI
19990308003 3197 T-C noncod MT-RNR2 Encephalopathy Cardiomyopathy Mennonite
20040701009 16098 A-G non-coding Control Region Normal Mestizo
20040701011 16175 A-G non-coding Control Region Normal Mestizo
20040701010 16189 T-A non-coding Control Region Normal Mestizo
20091005004 16194 A-C noncod D-Loop Normal Minangkabau and Banjar Malays
20041107006 3516 C-T syn MT-ND1 Type 2 Diabetes Mellitus Mongolia
20041107002 3605 T-C L-P MT-ND1 Type 2 Diabetes Mellitus Mongolia
20000915003 16157 T-A noncod D-Loop - Murut
20000211007 16192 C-A noncod D-Loop - Murut
20000914004 16259 C-A noncod D-Loop - Murut
20000915001 16337 C-T noncod D-Loop - Murut
20040209016 11047 C-A syn MT-ND4 Oral Cancer MUSLIM
20040209017 11506 T-C syn MT-ND4 Oral Cancer MUSLIM
20000915002 447 C-G noncod D-Loop - Punjabi
20000211009 469 C-A noncod D-Loop - Punjabi
20000914005 16309 A-C noncod D-Loop - Punjabi
20000914006 16318 A-C noncod D-Loop - Punjabi
20091005006 16176 C-G noncod D-Loop Normal Riau Malays
20000211006 16157 T-C noncod D-Loop - Rungus
20060913001 961 T-A rRNA MT-RNR1 Deafness Russian
20070709002 1557 A-C rRNA MT-RNR1 Deafness Russian
20060125001 15713 T-G S-A MT-CYB Epilepsy Russian
20130520002 522 C-T non-coding Control Region   S\xE3o Paulo
20040317012 3597 C-T syn MT-ND1 Normal Saudi Arab
20040317003 4203 A-G syn MT-ND1 Normal Saudi Arab
20040317011 4204 T-C syn MT-ND1 Normal Saudi Arab
20040317001 5360 C-T syn MT-ND2 Normal Saudi Arab
20040317010 7322 A-G syn MT-CO1 Normal Saudi Arab
20040317002 7364 A-G syn MT-CO1 Normal Saudi Arab
20040317004 10289 A-G syn MT-ND3 Normal Saudi Arab
20040317005 11399 T-C syn MT-ND4 Normal Saudi Arab
20040317006 11440 G-A syn MT-ND4 Normal Saudi Arab
20040317015 11620 A-G syn MT-ND4 Normal Saudi Arab
20040317009 11887 G-A syn MT-ND4 Normal Saudi Arab
20040317008 13500 T-C syn MT-ND5 Normal Saudi Arab
20040317013 13680 C-T syn MT-ND5 Normal Saudi Arab
20040317014 13752 T-C syn MT-ND5 Normal Saudi Arab
20040317007 14058 C-T syn MT-ND5 Normal Saudi Arab
20040317016 15235 A-G syn MT-CYB Normal Saudi Arab
20070612002 5843 A-G non-coding MT-TY Normal Saudi Arabs
20070612003 6546 C-T L-F MT-CO1 Normal Saudi Arabs
20070612004 9103 T-C F-L MT-ATP6 Normal Saudi Arabs
20070612005 9438 G-A G-S MT-CO3 Normal Saudi Arabs
20070612006 11337 A-G N-S MT-ND4 Normal Saudi Arabs
20070612007 12841 A-G I-V MT-ND5 Normal Saudi Arabs
20070612008 13813 G-A V-I MT-ND5 Normal Saudi Arabs
20140513001 146 T-C non-coding Control Region Breast cancer Senegalese
20140422002 15556 C-G Syn MT-CYB Breast cancer Senegalese
20140422004 15580 C-T Syn MT-CYB Breast cancer Senegalese
20140422005 15581 A-G T-A MT-CYB Breast cancer Senegalese
20140422008 15590 C-A R-TERM MT-CYB Breast cancer Senegalese
20140422010 15595 C-T Syn MT-CYB Breast cancer Senegalese
20140422011 15596 G-A V-I MT-CYB Breast cancer Senegalese
20140422013 15614 G-A G-S MT-CYB Breast cancer Senegalese
20140422014 15619 G-A Syn MT-CYB Breast cancer Senegalese
20140422015 15622 T-G Syn MT-CYB Breast cancer Senegalese
20140422016 15628 A-C Syn MT-CYB Breast cancer Senegalese
20140422017 15629 T-C Syn MT-CYB Breast cancer Senegalese
20140422018 15631 A-G Syn MT-CYB Breast cancer Senegalese
20140422019 15637 C-G Syn MT-CYB Breast cancer Senegalese
20140422020 15637 C-T Syn MT-CYB Breast cancer Senegalese
20140422021 15640 C-T Syn MT-CYB Breast cancer Senegalese
20140422022 15641 C-T L-F MT-CYB Breast cancer Senegalese
20140422023 15643 C-T Syn MT-CYB Breast cancer Senegalese
20140422024 15646 C-T Syn MT-CYB Breast cancer Senegalese
20140422025 15653 A-G M-V MT-CYB Breast cancer Senegalese
20140422026 15654 T-C M-T MT-CYB Breast cancer Senegalese
20140422027 15655 A-C M-I MT-CYB Breast cancer Senegalese
20140422028 15664 C-A I-M MT-CYB Breast cancer Senegalese
20140423001 15667 C-T Syn MT-CYB Breast cancer Senegalese
20140423002 15689 A-T M-L MT-CYB Breast cancer Senegalese
20140423003 15700 C-T Syn MT-CYB Breast cancer Senegalese
20140423004 15704 C-A L-M MT-CYB Breast cancer Senegalese
20140423005 15704 C-T Syn MT-CYB Breast cancer Senegalese
20140423006 15732 C-T A-V MT-CYB Breast cancer Senegalese
20140423007 15749 C-T Syn MT-CYB Breast cancer Senegalese
20140423008 15754 C-A Syn MT-CYB Breast cancer Senegalese
20140423009 15767 C-A Q-K MT-CYB Breast cancer Senegalese
20140423010 15787 T-G F-L MT-CYB Breast cancer Senegalese
20140423011 15792 T-C I-T MT-CYB Breast cancer Senegalese
20040209024 10811 T-C S-P MT-ND4 Oral Cancer SINDHI
20040209025 10812 C-T S-F MT-ND4 Oral Cancer SINDHI
20040209026 10814 A-C K-Q MT-ND4 Oral Cancer SINDHI
20040209028 10845 C-T T-I MT-ND4 Oral Cancer SINDHI
20061030001 4206 A-G syn MT-ND1 Control south African Mixed Ancestry
20061030002 4232 T-C I-T MT-ND1 Huntington Disease-Like 2 south African Mixed Ancestry
20061030003 4505 C-T syn MT-ND2 Huntington Disease-Like 2 south African Mixed Ancestry
20110224001 10158 T-G S-A MT-ND3 LHON South Indian
20100125001 4611 A-G M-V MT-ND2 diabetes Tunisian
20100125003 6527 A-T M-I MT-CO1 bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, pyramidal syndrome with calcification of basal ganglia and epilepsy Tunisian
20080406002 14757 T-C M-T MT-CYB Cardiomyopathy Tunisian
20080406001 14935 T-C syn MT-CYB Cardiomyopathy Tunisian
20080406004 15220 A-G syn MT-CYB Cardiomyopathy Tunisian
20080406005 15344 T-C syn MT-CYB Cardiomyopathy Tunisian
20080406003 15434 C-A L-I MT-CYB Cardiomyopathy Tunisian
20080406006 15632 C-T syn MT-CYB Cardiomyopathy Tunisian
20080406007 15679 A-G syn MT-CYB Cardiomyopathy Tunisian
20080406008 15799 A-G syn MT-CYB Cardiomyopathy Tunisian
20100125002 16230 A-T non-coding Control Region diabetes;bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, pyramidal syndrome with calcification of basal ganglia and epilepsy Tunisian
20100204001 16328 C-G non-coding Control Region diabetes;bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, pyramidal syndrome with calcification of basal ganglia and epilepsy Tunisian
20101129003 1406 T-C rRNA MT-RNR1 Nonsyndromic Hearing Loss Turkish
20101129001 1556 C-T rRNA MT-RNR1 Nonsyndromic Hearing Loss Turkish
19991118001 8860 A-G T-A MT-ATP6 Subfertile Unknown
19991118002 8860 A-G T-A MT-ATP6 Control Unknown
19991118003 8860 A-G T-A MT-ATP6 Control Unknown
19991118005 9055 G-A A-T MT-ATP6 Subfertile Unknown
19991118004 9150 G-A syn MT-ATP6 Control Unknown
19991118013 9150 A-G syn MT-ATP6 Control Unknown
19991118010 9377 G-A syn MT-CO3 Subfertile Unknown
19991118009 9380 G-A syn MT-CO3 Subfertile Unknown
19991118006 9477 G-A V-I MT-CO3 Control unknown
19991118007 9477 G-A V-I MT-CO3 Subfertile Unknown
19991118008 9548 G-A syn MT-CO3 Subfertile unknown
19991118011 9899 T-C syn MT-CO3 Control Unknown
19991118012 9941 A-G syn MT-CO3 Subfertile Unknown

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Topic revision: r1 - 19 Oct 2022, UnknownUser
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