MITOMAP: Unpublished mtDNA Variants {ARCHIVED, no longer updated}

To submit unpublished mtDNA variant data to an online database, please contact lishen@chla.usc.edu at MSeqDR.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

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

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

Also see the submission index

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Point Mutations - includes benign & 'potentially pathogenic' variants

Details and Citation	Position	Nucleotide Change	Amino Acid Change	Locus / Gene	Patient Group / Phenotype	Ethnographic Info
20120907005	377					European
20121022005	1760				CAD patient	Caucasian/Middle European
20121022003	2170				control/normal/healthy	Caucasian/Middle European
20121022004	2412				control/normal/healthy	Caucasian/Middle European
20120907002	2876					European
20120110001	3321				Cardiomyopathy	Caucasian/Africain
20120124002	5213				Normal	Indonesian
20120907001	5307					European
20120907008	5810					European
20120312001	6498				Hearing loss and optic atrophy	Caucasian/Africain
20121022001	6996				control/normal/healthy	Caucasian/Middle European
20120907010	7153					European
20120110004	7498				Cardiomyopathy	Caucasian/Africain
20120110003	7502				Cardiomyopathy	Caucasian/Africain
20120907016	7798					European
20120110006	8047				Cardiomyopathy	Caucasian/Africain
20120507001	8331
20120907013	8904					European
20120907015	8954					European
20120907007	9203					European
20120110002	9404				Leigh Syndrome	Caucasian/Africain
20120110005	9605				Cardiomyopathy	Caucasian/Africain
20130226001	13000
20120618016	13255				LHON	Iranian
20120907011	13578					European
20120907012	13746					European
20120907014	13746					European
20120907003	13847					European
20120125002	14936		S-A		diabetes myopathy and hearing impairement	africain
20121022002	15246				control/normal/healthy	Caucasian/Middle European
20120907017	15823					European
20030528029	165	A-C	non-coding	Control Region	Oral Cancer	Asian Indian- Marathi
20030527037	227	A-C	non-coding	Control Region	Oral Cancer	Asian Indian
20030528001	263	A-C	non-coding	Control Region	Oral Cancer	Asian Indian- Bengali
20040720007	574	A-C	non-coding	Control Region	Breast Cancer	Asian
20040720008	576	A-C	non-coding	Control Region	Breast Cancer	Asian
20090604001	581	A-C	noncod	MT-TF	DIABETES	Africain/caucasian
20100804009	751	A-C	rRNA	MT-RNR1
20070709002	1557	A-C	rRNA	MT-RNR1	Deafness	Russian
20110503004	1978	A-C	rRNA	MT-RNR2	Congenital Non-syndromic Deafness
20100804062	2060	A-C	rRNA	MT-RNR2
20100804083	2395	A-C	rRNA	MT-RNR2
20050919013	2451	A-C	rRNA	MT-RNR2	Normal	Arabs
20050919014	2505	A-C	rRNA	MT-RNR2	Normal	Arabs
20100804104	2838	A-C	rRNA	MT-RNR2
20100804117	3203	A-C	rRNA	MT-RNR2
20100804120	3207	A-C	rRNA	MT-RNR2
20090315005	3327	A-C	syn	MT-ND1	Uterine Leiomyomas	Asian Indian
20100804187	3997	A-C	I-L	MT-ND1
20100804259	4754	A-C	syn	MT-ND2
20100804319	5322	A-C	I-L	MT-ND2
20050809007	7646	A-C	I-L	MT-CO2	Normal	Arabs
20100804537	7960	A-C	syn	MT-CO2
20100804569	8280	A-C	non-coding	MT-NC7
20100804715	9351	A-C	T-P	MT-CO3
20050813018	9675	A-C	N-H	MT-CO3	Normal	Arabs
20100804755	9809	A-C	syn	MT-CO3
20050919035	10079	A-C	L-F	MT-ND3	Normal	Arabs
20100804776	10110	A-C	M-L	MT-ND3
20100804777	10112	A-C	M-I	MT-ND3
20100804780	10116	A-C	I-L	MT-ND3
20030918004	10153	A-C	E-A	MT-ND3	Liver Cancer	Asian
20100804844	10709	A-C	syn	MT-ND4L
20010828027	10754	A-C	syn	MT-ND4L	Sporadic Parathyroid Adenoma	-
20100804847	10754	A-C	syn	MT-ND4L
20040209026	10814	A-C	K-Q	MT-ND4	Oral Cancer	SINDHI
20040209014	10850	A-C	S-R	MT-ND4	Oral Cancer	MARATHI
20040209047	11314	A-C	E-D	MT-ND4	Normal	GUJARATI
20140730010	11336	A-C	N-H	MT-ND4	CAD+T2DM	Asian Indian
20140217006	11375	A-C	K-Q	MT-ND4	sCJD	Han Chinese
20140730012	11528	A-C	M-L	MT-ND4	CAD+T2DM	Asian Indian
20040209046	11818	A-C	syn	MT-ND4	Normal	MARATHI
20040209006	11855	A-C	N-H	MT-ND4	Oral Cancer	Asian Indian
20040713015	11976	A-C	Y-S	MT-ND4	Esophageal Cancer	Asian
20140731004	12437	A-C	H-P	MT-ND5	CAD+T2DM	Asian Indian
20140731005	12578	A-C	K-T	MT-ND5	CAD+T2DM	Asian Indian
20100805034	12950	A-C	N-T	MT-ND5
20100805046	13101	A-C	syn	MT-ND5
20100805224	14769	A-C	N-T	MT-CYB
20111213006	14949	A-C	H-P	MT-CYB	normal	Africain
20100805283	15325	A-C	syn	MT-CYB
20140422016	15628	A-C	Syn	MT-CYB	Breast cancer	Senegalese
20140422027	15655	A-C	M-I	MT-CYB	Breast cancer	Senegalese
20100805356	15954	A-C	non-coding	MT-NC10
20030215001	16054	A-C	non-coding	Control Region	Oral Cancer	Asian Indian
20030528060	16113	A-C	non-coding	Control Region	Oral Cancer	Asian Indian- Muslim
20091005004	16194	A-C	noncod	D-Loop	Normal	Minangkabau and Banjar Malays
20000914005	16309	A-C	noncod	D-Loop	-	Punjabi
20000211008	16317	A-C	noncod	D-Loop	-	Malay
20000914006	16318	A-C	noncod	D-Loop	-	Punjabi
20030428003	16318	A-C	non-coding	Control Region	Normal	Kazhakh
20030528117	16318	A-C	non-coding	Control Region	Oral Cancer	Asian Indian- Malayali
20030527019	16524	A-C	non-coding	Control Region	Oral Cancer	Asian Indian
20030527021	73	A-G	non-coding	Control Region	Oral Cancer	Asian Indian
20100822001	73	A-G	non-coding	Control Region	Oral Cancer	Indian- Bengali
20100908009	73	A-G	non-coding	Control Region	Oral Submucous Fibrosis	Asian-Bengali
20030529045	77	A-G	non-coding	Control Region	Oral Cancer	Asian Indian
20140214003	93	A-G	non-coding	Control Region	Control	Caucasian
20030528128	102	A-G	non-coding	Control Region	Oral Cancer	Asian Indian- Sindhi
20030529037	108	A-G	non-coding	Control Region	Oral Cancer	Asian Indian
20021231007	163	A-G	noncod	D-Loop	Normal	Madia Gond tribe
20030527035	178	A-G	non-coding	Control Region	Oral Cancer	Asian Indian- Bengali
20140214019	183	A-G	non-coding	Control Region
20091019001	188	A-G	noncod	D-Loop	Normal	Malay
20140214005	189	A-G	non-coding	Control Region	isolated complex IV deficiency	Caucasian
20140214011	189	A-G	non-coding	Control Region	isolated complex IV deficiency	Caucasian
20140214014	189	A-G	non-coding	Control Region		Caucasian
20030528033	193	A-G	non-coding	Control Region	Oral Cancer	Asian Indian- Marathi
20140217001	235	A-G	non-coding	Control Region	sCJD	Han Chinese
20030528035	237	A-G	non-coding	Control Region	Oral Cancer	Asian Indian- Marathi
20030528036	238	A-G	non-coding	Control Region	Oral Cancer	Asian Indian- Marathi
20030916002	259	A-G	non-coding	Control Region	Liver Cancer	Asian
20030528086	263	A-G	non-coding	Control Region	Oral Cancer	Asian Indian- Muslim
20101227001	263	A-G	non-coding	Control Region	Oral cancer	Asian-Bengali
20040327001	288	A-G	non-coding	Control Region	Pancreatic Ductal Adenocarcinoma	Caucasian
20021231001	512	A-G	noncod	D-Loop	Leigh Syndrome	Caucasian
20100804003	648	A-G	tRNA	MT-TF
20050919002	723	A-G	rRNA	MT-RNR1	Normal	Arabs
20050308004	735	A-G	rRNA	MT-RNR1	Deafness	Africain
20100804006	745	A-G	rRNA	MT-RNR1
20100804007	747	A-G	rRNA	MT-RNR1
20100804008	750	A-G	rRNA	MT-RNR1
20071219002	751	A-G	rRNA	MT-RNR1	Normal	Caucasian
20100804010	751	A-G	rRNA	MT-RNR1
20050313001	813	A-G	rRNA	MT-RNR1	Deafness	Africain
20100804012	813	A-G	rRNA	MT-RNR1
20050919003	827	A-G	rRNA	MT-RNR1	Normal	Arabs
20100804014	827	A-G	rRNA	MT-RNR1
20100804015	896	A-G	rRNA	MT-RNR1
20100804025	1008	A-G	rRNA	MT-RNR1
20070709001	1027	A-G	rRNA	MT-RNR1	Control	Altaian
20100804027	1053	A-G	rRNA	MT-RNR1
20100804036	1438	A-G	rRNA	MT-RNR1
20081105001	1453	A-G	noncod	MT-RNR1	Non-Syndromic Hearing Impairment (NSHI)	Hindu
20091029001	1453	A-G	noncod	MT-RNR1	Hearing loss	Caucasian
20100804039	1530	A-G	rRNA	MT-RNR1
20101005001	1640	A-G	tRNA	MT-TV	MELAS , mitochondrial diabetes, bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa,	Africain
20100804043	1676	A-G	rRNA	MT-RNR2
20041220008	1713	A-G	rRNA	MT-RNR2	Oral Cancer	Asian Indian-Marathi
20041220004	1811	A-G	rRNA	MT-RNR2	Oral Cancer	Asian Indian-Muslim
20041220013	1811	A-G	rRNA	MT-RNR2	Oral Cancer	Asian Indian-Gujarati
20050919008	1811	A-G	rRNA	MT-RNR2	Normal	Arabs
20100804052	1811	A-G	rRNA	MT-RNR2
20100804057	1842	A-G	rRNA	MT-RNR2
20100804060	1900	A-G	rRNA	MT-RNR2
20070207002	1940	A-G	rRNA	MT-RNR2	Centenarian	Caucasian
20110302007	1943	A-G	rRNA	MT-RNR2	complex I deficiency
20100804063	2060	A-G	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
20100804073	2264	A-G	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
20050919011	2355	A-G	rRNA	MT-RNR2	Normal	Arabs
20110302009	2358	A-G	rRNA	MT-RNR2	complex I deficiency
20100804084	2395	A-G	rRNA	MT-RNR2
20100804089	2581	A-G	rRNA	MT-RNR2
20070207003	2623	A-G	rRNA	MT-RNR2	Centenarian	Caucasian
20041220003	2644	A-G	rRNA	MT-RNR2	Oral Cancer	Asian Indian-Marathi
20041220001	2706	A-G	rRNA	MT-RNR2	Oral Cancer	Asian Indian - Gujarati
20050919015	2706	A-G	rRNA	MT-RNR2	Normal	Arabs
20100804092	2706	A-G	rRNA	MT-RNR2
20100804093	2707	A-G	rRNA	MT-RNR2
20041220006	2715	A-G	rRNA	MT-RNR2	Oral Cancer	Asian Indian-Gujarati
20100804094	2755	A-G	rRNA	MT-RNR2
20110302010	2755	A-G	rRNA	MT-RNR2	complex I deficiency
20100804095	2757	A-G	rRNA	MT-RNR2
20100804097	2768	A-G	rRNA	MT-RNR2
20100804099	2775	A-G	rRNA	MT-RNR2
20100804101	2792	A-G	rRNA	MT-RNR2
20100804103	2833	A-G	rRNA	MT-RNR2
20100804106	2873	A-G	rRNA	MT-RNR2
20100804112	3105	A-G	rRNA	MT-RNR2
20111230003	3213	A-G	rRNA	MT-RNR2	non-syndromic hearing loss
20041220017	3220	A-G	rRNA	MT-RNR2	Oral Cancer	Asian Indian
20051007006	3221	A-G	rRNA	MT-RNR2	-	Caucasian
20100804122	3221	A-G	rRNA	MT-RNR2
20140214020	3243	A-G	tRNA	MT-TL1	Melas
20100804129	3348	A-G	syn	MT-ND1
20100429001	3355	A-G	M-V	MT-ND1	myopathy	Caucasian
20100804130	3355	A-G	M-V	MT-ND1
20021231013	3360	A-G	syn	MT-ND1	Leucodystrophy	Caucasian
20100804131	3360	A-G	syn	MT-ND1
20100920002	3395	A-G	Y-C	MT-ND1	Cardiomyopathy and hearing-loss	Caucasian/Africain
20010828007	3397	A-G	M-V	MT-ND1	Sporadic Parathyroid Adenoma	-
20070208002	3397	A-G	M-V	MT-ND1	Type 2 Diabetes Mellitus	Ashkenazi Jew
20100804133	3397	A-G	M-V	MT-ND1
20100804137	3426	A-G	syn	MT-ND1
20100804138	3434	A-G	Y-C	MT-ND1
20100804139	3447	A-G	syn	MT-ND1
20100804141	3480	A-G	syn	MT-ND1
20100804144	3505	A-G	T-A	MT-ND1
20000825002	3547	A-G	I-V	MT-ND1	Pancreatic Cancer	Caucasian
20100804148	3547	A-G	I-V	MT-ND1
20100804150	3565	A-G	T-A	MT-ND1
20051031001	3579	A-G	syn	MT-ND1	Encephalomyopathy	Caucasian
20110503010	3652	A-G	I-V	MT-ND1	Congenital Non-syndromic Deafness
20100804156	3672	A-G	syn	MT-ND1
20100804159	3720	A-G	syn	MT-ND1
20100804161	3735	A-G	syn	MT-ND1
20091229002	3756	A-G	syn	MT-ND1	Breast Cancer	Africain
20100804167	3756	A-G	syn	MT-ND1
20040210003	3768	A-G	syn	MT-ND1	NAION	Arabs
20100804170	3796	A-G	T-A	MT-ND1
20100804172	3825	A-G	syn	MT-ND1
20100519001	3861	A-G	syn	MT-ND1	Leigh Syndrome	Caucasian/Africain
20100804177	3861	A-G	syn	MT-ND1
20120124001	3873	A-G	syn	MT-ND1	Normal	Indonesian
20060518005	3943	A-G	I-V	MT-ND1	-	Caucasian
20040912001	3993	A-G	syn	MT-ND1	Normal	Arabs
20050813001	4012	A-G	T-A	MT-ND1	Normal	Arabs
20100804190	4012	A-G	T-A	MT-ND1
20010303006	4021	A-G	T-A	MT-ND1	Breast Cancer	Caucasian
20100804193	4021	A-G	T-A	MT-ND1
20000825010	4024	A-G	T-A	MT-ND1	Pancreatic Cancer	Caucasian
20100804194	4024	A-G	T-A	MT-ND1
20100804196	4026	A-G	syn	MT-ND1
20100804197	4038	A-G	syn	MT-ND1
20060518006	4065	A-G	syn	MT-ND1	-	Caucasian
20100804200	4065	A-G	syn	MT-ND1
20100804204	4093	A-G	T-A	MT-ND1
19990316012	4104	A-G	syn	MT-ND1	-	-
20040210008	4104	A-G	syn	MT-ND1	NAION	Arabs
20100804205	4104	A-G	syn	MT-ND1
20100804210	4122	A-G	syn	MT-ND1
20100804211	4131	A-G	syn	MT-ND1
20010828009	4188	A-G	syn	MT-ND1	Sporadic Parathyroid Adenoma	-
20100804213	4188	A-G	syn	MT-ND1
20040317003	4203	A-G	syn	MT-ND1	Normal	Saudi Arab
20100804214	4203	A-G	syn	MT-ND1
20061030001	4206	A-G	syn	MT-ND1	Control	south African Mixed Ancestry
20100804217	4225	A-G	M-V	MT-ND1
20100804218	4227	A-G	syn	MT-ND1
20070527005	4246	A-G	I-V	MT-ND1	Breast Cancer	Caucasian
20040210009	4257	A-G	syn	MT-ND1	NAION	Arabs
20100804220	4295	A-G	tRNA	MT-TI
20110704002	4295	A-G	tRNA	MT-TI	non-syndromic deafness
20050318001	4310	A-G	tRNA	MT-TI	-	Caucasian
20100804221	4310	A-G	tRNA	MT-TI
19990721001	4315	A-G	noncod	MT-TI	Psychomotor retardation	Caucasian
20100921001	4316	A-G	tRNA	MT-TI	Cardiomyopathy and hearing-loss	Caucasian/Africain
20100804222	4317	A-G	tRNA	MT-TI
20100804225	4388	A-G	tRNA	MT-TQ
20081202001	4395	A-G	noncod	MT-TQ	cardiomyopathy	Afrique
20100804226	4395	A-G	tRNA	MT-TQ
20100804229	4435	A-G	tRNA	MT-TM
20040720010	4562	A-G	syn	MT-ND2	Breast Cancer	Asian
20100125001	4611	A-G	M-V	MT-ND2	diabetes	Tunisian
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
20050813002	4734	A-G	T-A	MT-ND2	Normal	Arabs
20100804257	4745	A-G	syn	MT-ND2
20050813003	4767	A-G	M-V	MT-ND2	Normal	Arabs
20050919017	4769	A-G	syn	MT-ND2	Normal	Arabs
20100804261	4769	A-G	syn	MT-ND2
20100804265	4790	A-G	syn	MT-ND2
20000825014	4793	A-G	syn	MT-ND2	Pancreatic Cancer	Caucasian
20100804266	4793	A-G	syn	MT-ND2
20100804267	4811	A-G	syn	MT-ND2
20100804269	4817	A-G	syn	MT-ND2
20070724001	4842	A-G	T-A	MT-ND2	Leigh Syndrome	Caucasian/Africain
20010301003	4917	A-G	N-D	MT-ND2	-	Caucasian
20050809003	4917	A-G	N-D	MT-ND2	Normal	Arabs
20100804275	4917	A-G	N-D	MT-ND2
20100804280	4961	A-G	syn	MT-ND2
20100804281	4965	A-G	S-G	MT-ND2
20100804282	4976	A-G	syn	MT-ND2
20010424003	5026	A-G	H-R	MT-ND2	Sporadic Parathyroid Adenoma	-
19990316013	5036	A-G	syn	MT-ND2	-	-
20100804289	5036	A-G	syn	MT-ND2
20100804293	5051	A-G	syn	MT-ND2
20100804299	5128	A-G	N-S	MT-ND2
20091229011	5134	A-G	N-S	MT-ND2	Breast Cancer	Caucasian
20100804301	5153	A-G	syn	MT-ND2
20010301002	5198	A-G	syn	MT-ND2	-	Caucasian
20100804305	5198	A-G	syn	MT-ND2
20110503014	5225	A-G	syn	MT-ND2	Congenital Non-syndromic Deafness
20100804312	5240	A-G	syn	MT-ND2
20040720015	5285	A-G	syn	MT-ND2	Breast Cancer	Caucasian
20100804316	5301	A-G	I-V	MT-ND2
20051007002	5315	A-G	syn	MT-ND2	Encephalomyopathy	Caucasian
20100804317	5315	A-G	syn	MT-ND2
20100804318	5319	A-G	T-A	MT-ND2
20100804321	5351	A-G	syn	MT-ND2
20091229015	5372	A-G	syn	MT-ND2	Breast Cancer	Africain
20100804324	5378	A-G	syn	MT-ND2
19990316016	5390	A-G	syn	MT-ND2	-	-
20100804325	5390	A-G	syn	MT-ND2
20100804327	5414	A-G	syn	MT-ND2
20100804328	5423	A-G	syn	MT-ND2
20080520001	5432	A-G	syn	MT-ND2	Ptosis, eye pain	Asian
20070724004	5453	A-G	syn	MT-ND2	Leigh Syndrome	Caucasian/Africain
20100804341	5496	A-G	M-V	MT-ND2
20100804342	5501	A-G	syn	MT-ND2
20100804345	5515	A-G	non-coding	MT-TW
20100804346	5527	A-G	non-coding	MT-TW
20080520002	5558	A-G	noncod	MT-TW	Ophthalmoparesis, single eye ptosis	Asian
20100804348	5558	A-G	non-coding	MT-TW
20070724007	5559	A-G	non-coding	MT-TW	Leigh Syndrome	Caucasian/Africain
20100804350	5581	A-G	non-coding	MT-NC3
20100804354	5592	A-G	tRNA	MT-TA
20100804358	5656	A-G	non-coding	MT-NC4
20110302012	5747	A-G	non-coding	MT-OLR	combined complex I + IV deficiency
20140218001	5800	A-G	tRNA	MT-TC	Kallmann Syndrome	Han Chinese
20100804368	5823	A-G	tRNA	MT-TC
20050919018	5836	A-G	non-coding	MT-TY	Normal	Arabs
20100804369	5836	A-G	non-coding	MT-TY
20070612002	5843	A-G	non-coding	MT-TY	Normal	Saudi Arabs
20070724009	5855	A-G	non-coding	MT-TY	Leigh Syndrome	Caucasian/Africain
20100804371	5894	A-G	non-coding	MT-NC5
20100804375	5951	A-G	syn	MT-CO1
20100804379	5990	A-G	syn	MT-CO1
20050809005	6040	A-G	N-S	MT-CO1	Normal	Arabs
20100804382	6040	A-G	N-S	MT-CO1
20100804384	6047	A-G	syn	MT-CO1
20090129001	6060	A-G	I-V	MT-CO1	COPD	Caucasian
20100804386	6080	A-G	syn	MT-CO1
20090529003	6146	A-G	syn	MT-CO1	Infertility	Africain/caucasian
20100804388	6146	A-G	syn	MT-CO1
20100804405	6275	A-G	syn	MT-CO1
20100804406	6284	A-G	syn	MT-CO1
20090129004	6299	A-G	syn	MT-CO1	COPD	Caucasian
20100804409	6299	A-G	syn	MT-CO1
20030918001	6338	A-G	syn	MT-CO1	Liver Cancer	Asian
20110204001	6416	A-G	syn	MT-CO1	sensorimotor neuropathy, myopathy and hearing loss	Korean
20100804428	6527	A-G	syn	MT-CO1
20100804434	6599	A-G	syn	MT-CO1
20100804437	6629	A-G	syn	MT-CO1
19990316022	6663	A-G	I-V	MT-CO1	-	-
20100804439	6663	A-G	I-V	MT-CO1
20140730004	6677	A-G	syn	MT-CO1	CAD+T2DM	Asian Indian
20100804443	6710	A-G	syn	MT-CO1
20100804444	6716	A-G	syn	MT-CO1
20100804449	6752	A-G	syn	MT-CO1
20100804453	6791	A-G	syn	MT-CO1
20100804455	6806	A-G	syn	MT-CO1
20101004004	6806	A-G	syn	MT-CO1	INFERTILITY	Africain
20120124004	6863	A-G	syn	MT-CO1	Normal	Indonesian
20100804463	6929	A-G	syn	MT-CO1
19990316024	6989	A-G	syn	MT-CO1	-	-
20100804465	6989	A-G	syn	MT-CO1
20100804470	7055	A-G	syn	MT-CO1
19990316025	7146	A-G	T-A	MT-CO1	-	-
20100804474	7146	A-G	T-A	MT-CO1
19990316026	7158	A-G	I-V	MT-CO1	-	-
20100804477	7184	A-G	syn	MT-CO1
20100804478	7202	A-G	syn	MT-CO1
20100804481	7241	A-G	syn	MT-CO1
20100804482	7245	A-G	T-A	MT-CO1
20100804484	7257	A-G	I-V	MT-CO1
20100804491	7298	A-G	syn	MT-CO1
20040317010	7322	A-G	syn	MT-CO1	Normal	Saudi Arab
20040317002	7364	A-G	syn	MT-CO1	Normal	Saudi Arab
20100804496	7364	A-G	syn	MT-CO1
20100804498	7385	A-G	syn	MT-CO1
20100804500	7403	A-G	syn	MT-CO1
20100804501	7424	A-G	syn	MT-CO1
20100804502	7436	A-G	syn	MT-CO1
20110722001	7455	A-G	tRNA	MT-TS1	HEARING IMPAIRED	ASIAN
20100804507	7559	A-G	tRNA	MT-TD
20110302023	7570	A-G	tRNA	MT-TD	complex I deficiency
20100804508	7606	A-G	syn	MT-CO2
20100804511	7673	A-G	I-V	MT-CO2
20100906001	7717	A-G	syn	MT-CO2	Breast cancer
20100804518	7729	A-G	L-F	MT-CO2
20100804519	7735	A-G	syn	MT-CO2
20111230006	7746	A-G	N-S	MT-CO2	non-syndromic hearing impairment	Caucasian
20100804523	7765	A-G	syn	MT-CO2
20100804524	7768	A-G	syn	MT-CO2
20100804525	7771	A-G	syn	MT-CO2
20140721001	7771	A-G	syn	MT-CO2	Normal	African
20100804526	7772	A-G	T-A	MT-CO2
20140721002	7775	A-G	syn	MT-CO2	Normal	African
20100906002	7799	A-G	I-V	MT-CO2	Breast cancer
20041210004	7843	A-G	syn	MT-CO2	Oral Cancer	Asian Indian-Marathi
20120124005	7894	A-G	syn	MT-CO2	Normal	Indonesian
20100804536	7941	A-G	N-S	MT-CO2
20010828017	7963	A-G	syn	MT-CO2	Sporadic Parathyroid Adenoma	-
20100804539	7963	A-G	syn	MT-CO2
20100804540	7972	A-G	syn	MT-CO2
20100906005	7972	A-G	syn	MT-CO2	Breast cancer
20140721010	7972	A-G	syn	MT-CO2	Normal	African
20140721013	8014	A-G	syn	MT-CO2	Normal	African
20100804545	8056	A-G	syn	MT-CO2
20100804548	8098	A-G	syn	MT-CO2
20100804552	8149	A-G	syn	MT-CO2
20041210001	8158	A-G	syn	MT-CO2	Oral Cancer	Asian Indian-Bengali
20100804553	8158	A-G	syn	MT-CO2
20100804556	8188	A-G	syn	MT-CO2
20040608001	8236	A-G	syn	MT-CO2	Subfertile	Caucasian
20070724011	8248	A-G	syn	MT-CO2	Leigh Syndrome	Caucasian/Africain
20100804559	8248	A-G	syn	MT-CO2
20040607001	8271	A-G	non-coding	MT-NC7	Subfertile	-
20050813005	8271	A-G	non-coding	MT-NC7	Normal	Arabs
20100804573	8291	A-G	non-coding	MT-NC7
20100804575	8296	A-G	tRNA	MT-TK
20110504002	8312	A-G	tRNA	MT-TK	INFERTILITY	Africain
20100804576	8347	A-G	tRNA	MT-TK
20100804577	8348	A-G	tRNA	MT-TK
20040608003	8350	A-G	tRNA	MT-TK	-	Caucasian
20060518002	8389	A-G	syn	MT-ATP8	-	Caucasian
20120404001	8399	A-G	T-A	MT-ATP8	disregulation of the metabolism of fatty acids	Caucasian
20070724013	8411	A-G	M-V	MT-ATP8	Leigh Syndrome	Caucasian/Africain
20110504003	8413	A-G	syn	MT-ATP8	INFERTILITY	Africain
20100804585	8440	A-G	syn	MT-ATP8
20100804588	8458	A-G	syn	MT-ATP8
20060803001	8463	A-G	Y-C	MT-ATP8	Down's syndrome	Belarusian
20100804592	8501	A-G	D-N	MT-ATP8
20100804594	8508	A-G	N-S	MT-ATP8
20100804595	8512	A-G	syn	MT-ATP8
20030723002	8527	A-G	M-V	MT-ATP6	Encephalomyopathy plus other symptoms	Caucasian
20030723003	8527	A-G	syn	MT-ATP8	Encephalomyopathy plus other symptoms	Caucasian
20100804609	8563	A-G	syn	MT-ATP8
20100804610	8563	A-G	T-A	MT-ATP6
20050809008	8566	A-G	syn	MT-ATP8	Normal	Arabs
20050809009	8566	A-G	I-V	MT-ATP6	Normal	Arabs
20040210013	8577	A-G	syn	MT-ATP6	NAION	Arabs
20100804613	8577	A-G	syn	MT-ATP6
20100804623	8631	A-G	syn	MT-ATP6
20100804626	8645	A-G	N-S	MT-ATP6
20080117003	8649	A-G	syn	MT-ATP6	Deafness	Caucasian/Africain
20120124006	8652	A-G	syn	MT-ATP6	Normal	Indonesian
20120124007	8653	A-G	syn	MT-ATP6	Normal	Indonesian
20100804629	8659	A-G	T-A	MT-ATP6
20100804630	8674	A-G	I-V	MT-ATP6
20080120004	8682	A-G	syn	MT-ATP6	Leigh-like syndrome	Caucasian/Africain
20100729001	8682	A-G	syn	MT-ATP6	mitochondrial myopathy	caucasienne
20160806003	8682	A-G	sym	ATP6	Presbycusis	Iranian
20100804634	8698	A-G	M-V	MT-ATP6
20050809012	8701	A-G	T-A	MT-ATP6	Normal	Arabs
20100804635	8701	A-G	T-A	MT-ATP6
20100804638	8706	A-G	syn	MT-ATP6
20100804639	8721	A-G	syn	MT-ATP6
20070327002	8795	A-G	H-R	MT-ATP6	Normal	Arabs
20010828019	8812	A-G	T-A	MT-ATP6	Sporadic Parathyroid Adenoma	-
20070327004	8816	A-G	Q-R	MT-ATP6	Leigh Syndrome	Arabs
20090710001	8820	A-G	syn	MT-ATP6	Infertility	Caucasian
19991118001	8860	A-G	T-A	MT-ATP6	Subfertile	Unknown
19991118002	8860	A-G	T-A	MT-ATP6	Control	Unknown
19991118003	8860	A-G	T-A	MT-ATP6	Control	Unknown
20080111001	8860	A-G	T-A	MT-ATP6	Abdominal Aortic Aneurysm	Caucasian
20100804647	8860	A-G	T-A	MT-ATP6
20090609002	8862	A-G	syn	MT-ATP6	Epilepsy	Iranian
20100804649	8887	A-G	I-V	MT-ATP6
20051007003	8901	A-G	syn	MT-ATP6	Encephalomyopathy	Caucasian
20100804652	8931	A-G	syn	MT-ATP6
20100804653	8938	A-G	I-V	MT-ATP6
20010828020	8953	A-G	I-V	MT-ATP6	Sporadic Parathyroid Adenoma	-
20100804656	8962	A-G	T-A	MT-ATP6
20100804659	8982	A-G	syn	MT-ATP6
20110503021	8985	A-G	syn	MT-ATP6	Congenital Non-syndromic Deafness
20010828021	8987	A-G	M-V	MT-ATP6	Sporadic Parathyroid Adenoma	-
20100804662	9000	A-G	syn	MT-ATP6
20100804663	9006	A-G	syn	MT-ATP6
19990721002	9007	A-G	T-A	MT-ATP6	MELAS-like	Caucasian
20100804664	9007	A-G	T-A	MT-ATP6
20070327003	9024	A-G	syn	MT-ATP6	Normal	Arabs
20100804669	9041	A-G	H-R	MT-ATP6
20080729001	9058	A-G	T-A	MT-ATP6	Normal	Caucasian
20100804676	9072	A-G	syn	MT-ATP6
20100804678	9093	A-G	syn	MT-ATP6
20100804682	9100	A-G	I-V	MT-ATP6
20100804684	9108	A-G	syn	MT-ATP6
20100804685	9115	A-G	I-V	MT-ATP6
20100804687	9120	A-G	syn	MT-ATP6
19991118013	9150	A-G	syn	MT-ATP6	Control	Unknown
20100804693	9150	A-G	syn	MT-ATP6
20100804695	9181	A-G	S-G	MT-ATP6
20100804697	9214	A-G	H-R	MT-CO3
20100804698	9221	A-G	syn	MT-CO3
20090129008	9242	A-G	syn	MT-CO3	COPD	Caucasian
19990323003	9254	A-G	syn	MT-CO3	Myopathy	Caucasian
20030918002	9254	A-G	syn	MT-CO3	Liver Cancer	Asian
20100804701	9254	A-G	syn	MT-CO3
20100804703	9275	A-G	syn	MT-CO3
20100804707	9299	A-G	syn	MT-CO3
20060518003	9338	A-G	syn	MT-CO3	Myopathy	Caucasian
20100804714	9350	A-G	syn	MT-CO3
20100804717	9368	A-G	syn	MT-CO3
20100804718	9377	A-G	syn	MT-CO3
20100804721	9389	A-G	syn	MT-CO3
20100804723	9398	A-G	syn	MT-CO3
20021231011	9410	A-G	syn	MT-CO3	Myopathy	Caucasian
20080414004	9425	A-G	syn	MT-CO3	Hypertrophic Cardiomyopathy	Caucasian
20100804724	9425	A-G	syn	MT-CO3
19990218008	9545	A-G	syn	MT-CO3	LHON	Hispanic
20100804731	9545	A-G	syn	MT-CO3
20090129009	9590	A-G	syn	MT-CO3	COPD	Caucasian
20080117007	9617	A-G	syn	MT-CO3	Deafness	Caucasian/Africain
20040217002	9632	A-G	syn	MT-CO3	Encephalopathy, LHON	Caucasian
20100804735	9632	A-G	syn	MT-CO3
20110801012	9635	A-G	syn	MT-CO3	NORMAL	ASIAN
20100804737	9664	A-G	E-G	MT-CO3
20100804738	9667	A-G	N-S	MT-CO3
20100804739	9670	A-G	N-S	MT-CO3
20031029003	9794	A-G	syn	MT-CO3	LHON	Arabs
20100804756	9809	A-G	syn	MT-CO3
19991118012	9941	A-G	syn	MT-CO3	Subfertile	Unknown
20100804768	10005	A-G	tRNA	MT-TG
20100804769	10018	A-G	tRNA	MT-TG
20000825012	10044	A-G	noncod	MT-TG	Pancreatic Cancer	Caucasian
20100804771	10044	A-G	tRNA	MT-TG
20100804774	10097	A-G	syn	MT-ND3
20100804781	10116	A-G	I-V	MT-ND3
20100804784	10151	A-G	syn	MT-ND3
20100804785	10154	A-G	syn	MT-ND3
20100804793	10217	A-G	syn	MT-ND3
20100804795	10232	A-G	syn	MT-ND3
20140730005	10236	A-G	I-V	MT-ND3	CAD+T2DM	Asian Indian
20050919022	10262	A-G	syn	MT-ND3	Normal	Arabs
20100804801	10262	A-G	syn	MT-ND3
20100804803	10283	A-G	syn	MT-ND3
20040317004	10289	A-G	syn	MT-ND3	Normal	Saudi Arab
20100804804	10289	A-G	syn	MT-ND3
20100804808	10323	A-G	M-V	MT-ND3
20100804810	10340	A-G	syn	MT-ND3
20100804811	10344	A-G	I-V	MT-ND3
20050919036	10398	A-G	T-A	MT-ND3	Normal	Arabs
20100804815	10398	A-G	T-A	MT-ND3
20100804822	10499	A-G	syn	MT-ND4L
20100804823	10506	A-G	T-A	MT-ND4L
20100804824	10550	A-G	syn	MT-ND4L
20100804826	10559	A-G	syn	MT-ND4L
20110801004	10577	A-G	syn	MT-ND4L	NORMAL	ASIAN
20100804830	10598	A-G	syn	MT-ND4L
20100804838	10658	A-G	syn	MT-ND4L
20100804846	10750	A-G	N-S	MT-ND4L
20100804848	10754	A-G	syn	MT-ND4L
20100804849	10768	A-G	syn	MT-ND4
20010828028	10775	A-G	V-I	MT-ND4	Sporadic Parathyroid Adenoma	-
20100804851	10807	A-G	syn	MT-ND4
20001017009	10816	A-G	syn	MT-ND4	Lung Cancer	African/American
20091229017	10816	A-G	syn	MT-ND4	Breast Cancer	Africain
20100804853	10819	A-G	syn	MT-ND4
20040209044	10823	A-G	M-V	MT-ND4	Normal	MARATHI
20100804855	10825	A-G	syn	MT-ND4
20040209011	10826	A-G	I-V	MT-ND4	Oral Cancer	MARATHI
19990316036	10876	A-G	syn	MT-ND4	-	-
20100804859	10876	A-G	syn	MT-ND4
20100804862	10895	A-G	N-D	MT-ND4
20100804869	10963	A-G	syn	MT-ND4
20100804870	10972	A-G	syn	MT-ND4
19990316037	10978	A-G	syn	MT-ND4	-	-
20100804871	10978	A-G	syn	MT-ND4
20030918005	11015	A-G	S-G	MT-ND4	Liver Cancer	Asian
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
20040209051	11083	A-G	syn	MT-ND4	Normal	MARATHI
20100804880	11083	A-G	syn	MT-ND4
20100804881	11084	A-G	T-A	MT-ND4
20100804882	11101	A-G	syn	MT-ND4
19990316039	11167	A-G	syn	MT-ND4	-	-
20100804886	11167	A-G	syn	MT-ND4
20100804887	11172	A-G	N-S	MT-ND4
20100804892	11221	A-G	syn	MT-ND4
20100804895	11251	A-G	syn	MT-ND4
20091229020	11329	A-G	syn	MT-ND4	Breast Cancer	Africain
20070612006	11337	A-G	N-S	MT-ND4	Normal	Saudi Arabs
20100804901	11337	A-G	N-S	MT-ND4
20040210022	11362	A-G	syn	MT-ND4	NAION	Arabs
20080120002	11362	A-G	syn	MT-ND4	KSS	Caucasian/Africain
20100804906	11380	A-G	syn	MT-ND4
20040825001	11404	A-G	syn	MT-ND4	Postural Tachycardia Syndrome (POTS)	Caucasian
20100804911	11449	A-G	syn	MT-ND4
20100804912	11461	A-G	syn	MT-ND4
20040209018	11467	A-G	syn	MT-ND4	Oral Cancer	Asian Indian
20040209050	11467	A-G	syn	MT-ND4	Normal	MARATHI
20100804913	11467	A-G	syn	MT-ND4
20140217007	11467	A-G	L-L	MT-ND4	sCJD	Han Chinese
19990316040	11470	A-G	syn	MT-ND4	-	-
20100804914	11470	A-G	syn	MT-ND4
20100804916	11504	A-G	I-V	MT-ND4
20040209042	11530	A-G	M-Term	MT-ND4	Oral Cancer	MARATHI
20100804920	11566	A-G	syn	MT-ND4
20070527006	11567	A-G	I-V	MT-ND4	Breast Cancer	Caucasian
20100804921	11590	A-G	syn	MT-ND4
20040317015	11620	A-G	syn	MT-ND4	Normal	Saudi Arab
20001017007	11641	A-G	syn	MT-ND4	Lung Cancer	African/American
20100804922	11653	A-G	syn	MT-ND4
20100804923	11654	A-G	T-A	MT-ND4
20010303004	11723	A-G	T-A	MT-ND4	Breast Cancer	Caucasian
20010303001	11734	A-G	syn	MT-ND4	Breast Cancer	Caucasian
20100804933	11812	A-G	syn	MT-ND4
20100804942	11893	A-G	syn	MT-ND4
20100804944	11923	A-G	syn	MT-ND4
20080117009	11926	A-G	syn	MT-ND4	Deafness	Caucasian/Africain
20040825002	11930	A-G	I-V	MT-ND4	Postural Tachycardia Syndrome (POTS)	Caucasian
20100804949	11947	A-G	syn	MT-ND4
20100804955	12030	A-G	N-S	MT-ND4
20040209045	12052	A-G	syn	MT-ND4	Normal	MARATHI
20110503026	12057	A-G	E-G	MT-ND4	Congenital Non-syndromic Deafness
20100804958	12082	A-G	syn	MT-ND4
20100804965	12171	A-G	tRNA	MT-TH
20100804966	12172	A-G	tRNA	MT-TH
20010303002	12251	A-G	noncod	MT-TS2	Breast Cancer	Caucasian
20070527001	12251	A-G	tRNA	MT-TS2	Breast Cancer	Caucasian
20100804970	12265	A-G	tRNA	MT-TS2
20100804972	12308	A-G	tRNA	MT-TL2
20140217010	12308	A-G	tRNA	MT-TL2	sCJD	Han Chinese
20140217011	12326	A-G	tRNA	MT-TL2	sCJD	Han Chinese
20100804976	12358	A-G	T-A	MT-ND5
20100804978	12366	A-G	syn	MT-ND5
20100804980	12373	A-G	T-A	MT-ND5
20091229021	12400	A-G	T-A	MT-ND5	Breast Cancer	Africain
20100804990	12490	A-G	T-A	MT-ND5
20100804994	12530	A-G	N-S	MT-ND5
20100805002	12612	A-G	syn	MT-ND5
20100805006	12634	A-G	I-V	MT-ND5
20100805007	12642	A-G	syn	MT-ND5
20100805009	12662	A-G	N-S	MT-ND5
20100805013	12693	A-G	syn	MT-ND5
20100805019	12723	A-G	syn	MT-ND5
20100805023	12768	A-G	syn	MT-ND5
20100805026	12810	A-G	syn	MT-ND5
20040210015	12822	A-G	syn	MT-ND5	NAION	Arabs
20070612007	12841	A-G	I-V	MT-ND5	Normal	Saudi Arabs
20100805032	12930	A-G	syn	MT-ND5
20100805033	12937	A-G	M-V	MT-ND5
20100805035	12950	A-G	N-S	MT-ND5
20110801013	13005	A-G	syn	MT-ND5	NORMAL	ASIAN
20100805041	13017	A-G	syn	MT-ND5
20100805043	13032	A-G	syn	MT-ND5
20100805047	13104	A-G	syn	MT-ND5
20100805048	13105	A-G	I-V	MT-ND5
20100805050	13117	A-G	I-V	MT-ND5
20100805058	13263	A-G	syn	MT-ND5
20010828034	13422	A-G	syn	MT-ND5	Sporadic Parathyroid Adenoma	-
20100805068	13434	A-G	syn	MT-ND5
20100805072	13470	A-G	syn	MT-ND5
20110801010	13476	A-G	syn	MT-ND5	NORMAL	ASIAN
20100805074	13479	A-G	syn	MT-ND5
20100805075	13485	A-G	syn	MT-ND5
20100805078	13528	A-G	T-A	MT-ND5
20100805079	13535	A-G	N-S	MT-ND5
20041212001	13539	A-G	syn	MT-ND5	LHON	Arabs
20100805081	13557	A-G	syn	MT-ND5
20100805090	13630	A-G	T-A	MT-ND5
20100805091	13632	A-G	syn	MT-ND5
20050919037	13637	A-G	Q-R	MT-ND5	Normal	Arabs
20100805092	13637	A-G	Q-R	MT-ND5
20100805094	13651	A-G	T-A	MT-ND5
20100805096	13661	A-G	N-S	MT-ND5
20120618014	13663	A-G	I-V	MT-ND5	LHON	Iranian
20100805099	13681	A-G	T-A	MT-ND5
20100805104	13722	A-G	syn	MT-ND5
20100805105	13731	A-G	syn	MT-ND5
20000825020	13780	A-G	I-V	MT-ND5	Pancreatic Cancer	Caucasian
20050813011	13780	A-G	I-V	MT-ND5	Normal	Arabs
20100805113	13780	A-G	I-V	MT-ND5
20100805117	13803	A-G	syn	MT-ND5
20100805118	13827	A-G	syn	MT-ND5
20100805122	13884	A-G	syn	MT-ND5
20100805125	13911	A-G	syn	MT-ND5
20100805128	13933	A-G	T-A	MT-ND5
20100805135	13966	A-G	T-A	MT-ND5
20100805141	14002	A-G	T-A	MT-ND5
19990316045	14007	A-G	syn	MT-ND5	-	-
20100805142	14013	A-G	syn	MT-ND5
20120618010	14020	A-G	SYN	MT-ND5	LHON	Iranian
19990316046	14037	A-G	syn	MT-ND5	-	-
20100805145	14037	A-G	syn	MT-ND5
20010828037	14070	A-G	syn	MT-ND5	Sporadic Parathyroid Adenoma	-
20100805149	14070	A-G	syn	MT-ND5
20100805150	14071	A-G	T-A	MT-ND5
20100805151	14079	A-G	syn	MT-ND5
20100805155	14118	A-G	syn	MT-ND5
20100805157	14133	A-G	syn	MT-ND5
20100805159	14139	A-G	syn	MT-ND5
20100805160	14148	A-G	Ter-Ter	MT-ND5
20070327012	14179	A-G	syn	MT-ND6	Leigh Syndrome	Arabs
20100805163	14179	A-G	syn	MT-ND6
19990316050	14203	A-G	syn	MT-ND6	-	-
20100805167	14203	A-G	syn	MT-ND6
20100805171	14220	A-G	syn	MT-ND6
20100805172	14233	A-G	syn	MT-ND6
20100805177	14274	A-G	syn	MT-ND6
20100805180	14296	A-G	syn	MT-ND6
20100805187	14370	A-G	syn	MT-ND6
20030918006	14388	A-G	syn	MT-ND6	Liver Cancer	Asian
20100805190	14388	A-G	syn	MT-ND6
20100805199	14497	A-G	syn	MT-ND6
20100805203	14518	A-G	syn	MT-ND6
20060130001	14552	A-G	V-A	MT-ND6	Leucodystrophy	Caucasian
20100805207	14566	A-G	syn	MT-ND6
20000825013	14582	A-G	V-A	MT-ND6	Pancreatic Cancer	Caucasian
20100805211	14582	A-G	V-A	MT-ND6
20100805212	14587	A-G	syn	MT-ND6
20100805213	14593	A-G	syn	MT-ND6
20100805216	14627	A-G	F-S	MT-ND6
20040210018	14662	A-G	syn	MT-ND6	NAION	Arabs
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
19990316052	14768	A-G	N-D	MT-CYB	-	-
20100805225	14769	A-G	N-S	MT-CYB
20100805232	14790	A-G	N-S	MT-CYB
19990316053	14793	A-G	H-R	MT-CYB	-	-
20100805233	14793	A-G	H-R	MT-CYB
20111213001	14836	A-G	syn	MT-CYB	Diabetes, Myopathy, hearing impairment	Africain
20100805236	14839	A-G	syn	MT-CYB
20100805247	14926	A-G	syn	MT-CYB
20100805248	14927	A-G	T-A	MT-CYB
20111213007	14954	A-G	T-A	MT-CYB	normal	Africain
20020410002	15034	A-G	syn	MT-CYB	Myopathy (unknown), Bilateral Ptosis	Caucasian
20100805257	15034	A-G	syn	MT-CYB
20100805259	15052	A-G	syn	MT-CYB
20140731009	15054	A-G	Y-C	MT-CYB	CAD+T2DM	Asian Indian
20100805260	15061	A-G	syn	MT-CYB
20080414001	15064	A-G	syn	MT-CYB	Cardiomyopathy	Caucasian
20140630005	15118	A-G	syn	MT-CYB	Temporal lobe epilepsy with hippocampal sclerosis
20100805265	15122	A-G	T-A	MT-CYB
20050813012	15218	A-G	T-A	MT-CYB	Normal	Arabs
20100805271	15218	A-G	T-A	MT-CYB
20080406004	15220	A-G	syn	MT-CYB	Cardiomyopathy	Tunisian
20100805274	15232	A-G	syn	MT-CYB
20040317016	15235	A-G	syn	MT-CYB	Normal	Saudi Arab
19990507001	15244	A-G	syn	MT-CYB	Ocular Myopathy	Caucasian
20100805275	15244	A-G	syn	MT-CYB
20100805284	15326	A-G	T-A	MT-CYB
20100805285	15340	A-G	syn	MT-CYB
20100805290	15397	A-G	syn	MT-CYB
20140422005	15581	A-G	T-A	MT-CYB	Breast cancer	Senegalese
20100805308	15607	A-G	syn	MT-CYB
20100805309	15613	A-G	syn	MT-CYB
20140422018	15631	A-G	Syn	MT-CYB	Breast cancer	Senegalese
20100805312	15634	A-G	syn	MT-CYB
20100805313	15652	A-G	syn	MT-CYB
20140422025	15653	A-G	M-V	MT-CYB	Breast cancer	Senegalese
20040210021	15679	A-G	syn	MT-CYB	NAION	Arabs
20080406007	15679	A-G	syn	MT-CYB	Cardiomyopathy	Tunisian
20100805316	15682	A-G	syn	MT-CYB
20000825021	15758	A-G	I-V	MT-CYB	Pancreatic Cancer	Caucasian
20100805325	15758	A-G	I-V	MT-CYB
20040217003	15763	A-G	syn	MT-CYB	Encephalomyopathy	Caucasian
20100805326	15766	A-G	syn	MT-CYB
19990721003	15772	A-G	syn	MT-CYB	Myopathy	Caucasian
20100805328	15775	A-G	syn	MT-CYB
20080406008	15799	A-G	syn	MT-CYB	Cardiomyopathy	Tunisian
20100805335	15817	A-G	syn	MT-CYB
20030918009	15859	A-G	syn	MT-CYB	Liver Cancer	Asian
20100805337	15859	A-G	syn	MT-CYB
20160806005	15864	A-G	E-G	CYB		Iranian
20100805346	15907	A-G	tRNA	MT-TT
20100805348	15924	A-G	tRNA	MT-TT
20100805352	15935	A-G	tRNA	MT-TT
20100805355	15948	A-G	tRNA	MT-TT
20070609001	16041	A-G	non-coding	Control Region	Leucodystrophy	Africain
19990316055	16051	A-G	noncod	D-Loop	-	-
20030528088	16051	A-G	non-coding	Control Region	Oral Cancer	Asian Indian- Gujarati
20030528126	16098	A-G	non-coding	Control Region	Oral Cancer	Asian Indian- Sindhi
20040701009	16098	A-G	non-coding	Control Region	Normal	Mestizo
20030529007	16100	A-G	non-coding	Control Region	Oral Cancer	Asian Indian
20030529041	16138	A-G	non-coding	Control Region	Oral Cancer	Asian Indian
20001017001	16170	A-G	noncod	D-Loop	Lung Cancer	Caucasian
20040701011	16175	A-G	non-coding	Control Region	Normal	Mestizo
20030528082	16181	A-G	non-coding	Control Region	Oral Cancer	Asian Indian- Muslim
20080730001	16183	A-G	noncod	D-Loop	-	Chinese Tu ethnic group
20110503031	16206	A-G	non-coding	Control Region	Congenital Non-syndromic Deafness
20091006001	16207	A-G	noncod	D-Loop	Normal	Malay
20030528105	16235	A-G	non-coding	Control Region	Oral Cancer	Asian Indian
20030528120	16275	A-G	non-coding	Control Region	Oral Cancer	Asian Indian- Gujarati
20030527033	16289	A-G	non-coding	Control Region	Oral Cancer	Asian Indian- Bengali
20030528061	16309	A-G	non-coding	Control Region	Oral Cancer	Asian Indian- Muslim
20091005003	16312	A-G	noncod	D-Loop	Normal	Kedah Malays
20030528047	16318	A-G	non-coding	Control Region	Oral Cancer	Asian Indian- Marathi
20050919029	16335	A-G	non-coding	Control Region	Normal	Arabs
20030528139	16399	A-G	non-coding	Control Region	Oral Cancer	Asian Indian
20030528016	16497	A-G	non-coding	Control Region	Oral Cancer	Asian Indian- Marathi
20030528017	16497	A-G	non-coding	Control Region	Oral Cancer	Asian Indian- Marathi
20080810001	16525	A-G	noncod	D-Loop	FAP	Chinese
20030528018	16567	A-G	non-coding	Control Region	Oral Cancer	Asian Indian- Marathi
20030528119	178	A-T	non-coding	Control Region	Oral Cancer	Asian Indian- Malayali
20030527039	238	A-T	non-coding	Control Region	Oral Cancer	Asian Indian- Bengali
20030528037	257	A-T	non-coding	Control Region	Oral Cancer	Asian Indian- Marathi
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
20030528010	288	A-T	non-coding	Control Region	Oral Cancer	Asian Indian- Bengali
20040720005	556	A-T	non-coding	Control Region	Breast Cancer	Asian
20100804035	1435	A-T	rRNA	MT-RNR1
20110302006	1692	A-T	rRNA	MT-RNR2	combined complex I + IV deficiency
20010828006	3160	A-T	noncod	MT-RNR2	Sporadic Parathyroid Adenoma	-
20100804135	3399	A-T	M-I	MT-ND1
20110503007	3444	A-T	syn	MT-ND1	Congenital Non-syndromic Deafness
20140729009	3444	A-T	syn	MT-ND1	CAD+T2DM	Asian Indian
20100804188	4000	A-T	I-F	MT-ND1
20100804189	4005	A-T	M-I	MT-ND1
20100804227	4401	A-T	non-coding	MT-NC2
20100804233	4529	A-T	syn	MT-ND2
20091229008	5069	A-T	M-I	MT-ND2	Breast Cancer	Africain
20100804343	5504	A-T	M-I	MT-ND2
20100804404	6272	A-T	syn	MT-CO1
20090604002	6527	A-T	M-I	MT-CO1	DIABETES	Africain/caucasian
20100125003	6527	A-T	M-I	MT-CO1	bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, pyramidal syndrome with calcification of basal ganglia and epilepsy	Tunisian
20100804542	8014	A-T	syn	MT-CO2
20060518001	8084	A-T	T-A	MT-CO2	Myoclonic Epilepsy	Caucasian
20041210011	8266	A-T	syn	MT-CO2	Oral Cancer	Asian Indian-Gujarati
20090529005	9007	A-T	T-S	MT-ATP6	Infertility	Africain/caucasian
20050809014	9539	A-T	Q-H	MT-CO3	Normal	Arabs
20100804743	9704	A-T	syn	MT-CO3
20100804775	10109	A-T	syn	MT-ND3
20100804778	10113	A-T	I-F	MT-ND3
20100804816	10398	A-T	T-S	MT-ND3
20100804820	10487	A-T	M-I	MT-ND4L
20040209001	10817	A-T	K-Term	MT-ND4	Oral Cancer	GUJARATI
20040209038	11067	A-T	Q-L	MT-ND4	Oral Cancer	MARATHI
20100804991	12492	A-T	syn	MT-ND5
20100804995	12546	A-T	syn	MT-ND5
20100805024	12768	A-T	W-C	MT-ND5
20061011002	13511	A-T	K-M	MT-ND5	Leigh Syndrome	Caucasian
20100805137	13973	A-T	Q-L	MT-ND5
20100805214	14605	A-T	syn	MT-ND6
20100805251	14970	A-T	Y-F	MT-CYB
20090529001	15220	A-T	no	MT-CYB	Infertility	Africain/caucasian
20020529001	15487	A-T	syn	MT-CYB	Exercise Intolerance	-
20140423002	15689	A-T	M-L	MT-CYB	Breast cancer	Senegalese
20140731015	15869	A-T	K-Term	MT-CYB	CAD+T2DM	Asian Indian
20160806006	15906	A-T		tRNA.T		Iranian
20030527001	16051	A-T	non-coding	Control Region	Oral Cancer	Asian Indian- Gujarati
20030529034	16103	A-T	non-coding	Control Region	Oral Cancer	Asian Indian
20050419004	16219	A-T	non-coding	Control Region	LHON	Caucasian
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
20091005002	16246	A-T	noncod	D-Loop	Normal	Banjar Malays
20070609003	16293	A-T	non-coding	Control Region	Leigh Syndrome	Africain
20030528062	16318	A-T	non-coding	Control Region	Oral Cancer	Asian Indian- Muslim
20030528091	16417	A-T	non-coding	Control Region	Oral Cancer	Asian Indian- Gujarati
20041130001	16176	C- A	non-coding	Control Region	Friedreich's Ataxia	-
20030529036	96	C-A	non-coding	Control Region	Oral Cancer	Asian Indian
20160806004	96	C-A		CR:HVS2		Iranian
20140407001	120	C-A	non-coding	Control Region	NON CODING	ASIAN
20140729002	120	C-A	non-coding	Control Region	CAD+T2DM	Asian Indian
20030529004	164	C-A	non-coding	Control Region	Oral Cancer	Asian Indian- Bihari
20140724002	170	C-A	non-coding	Control Region	CAD+T2DM	Asian Indian
20030528118	174	C-A	non-coding	Control Region	Oral Cancer	Asian Indian- Malayali
20030528058	231	C-A	non-coding	Control Region	Oral Cancer	Asian Indian- Marathi
20010424001	253	C-A	noncod	D-Loop	Sporadic Parathyroid Adenoma	-
20030528087	271	C-A	non-coding	Control Region	Oral Cancer	Asian Indian- Muslim
20030528006	273	C-A	non-coding	Control Region	Oral Cancer	Asian Indian- Bengali
20050106004	295	C-A	non-coding	Control Region	Normal	Caucasian
20000211009	469	C-A	noncod	D-Loop	-	Punjabi
20040720006	570	C-A	non-coding	Control Region	Breast Cancer	Asian
20110302001	571	C-A	non-coding	Control Region	complex I deficiency
20111230001	712	C-A	rRNA	MT-RNR1	non-syndromic hearing impairment	Caucasian
20110503002	960	C-A	rRNA	MT-RNR1	Congenital Non-syndromic Deafness
20110302015	1011	C-A	rRNA	MT-RNR1	combined complex I + IV deficiency
20140729004	1597	C-A	rRNA	MT-RNR1	CAD+T2DM	Asian Indian
20050919009	1837	C-A	rRNA	MT-RNR2	Normal	Arabs
20050919010	1845	C-A	rRNA	MT-RNR2	Normal	Arabs
20100804123	3254	C-A	tRNA	MT-TL1
20090315004	3342	C-A	syn	MT-ND1	Uterine Leiomyomas	Asian Indian
20110704001	3388	C-A	L-M	MT-ND1	non-syndromic deafness
20050919032	3527	C-A	A-D	MT-ND1	Normal	Arabs
20100804181	3895	C-A	P-T	MT-ND1
20010301007	3921	C-A	syn	MT-ND1	Breast Cancer	Caucasian
20040210006	3921	C-A	syn	MT-ND1	NAION	Arabs
20100804216	4221	C-A	syn	MT-ND1
20010828012	4640	C-A	I-M	MT-ND2	Sporadic Parathyroid Adenoma	-
20100804242	4640	C-A	I-M	MT-ND2
20050809002	4904	C-A	I-M	MT-ND2	Normal	Arabs
20120618006	4932	C-A	L-I	MT-ND2	LHON	Iranian
20100804298	5124	C-A	L-I	MT-ND2
20100804310	5232	C-A	P-T	MT-ND2
20100804320	5339	C-A	syn	MT-ND2
20100804372	5898	C-A	non-coding	MT-NC5
20110503015	6140	C-A	syn	MT-CO1	Congenital Non-syndromic Deafness
20110504004	6188	C-A	syn	MT-CO1	INFERTILITY	Africain
20100804397	6237	C-A	L-M	MT-CO1
20101004001	6296	C-A	syn	MT-CO1
20140520002	6296	C-A	Syn	MT-CO1	infertile
20100804422	6464	C-A	syn	MT-CO1
20100804426	6489	C-A	L-I	MT-CO1
20100804447	6725	C-A	syn	MT-CO1
20100804457	6830	C-A	syn	MT-CO1
19990316031	7819	C-A	syn	MT-CO2	-	-
20140721004	7819	C-A	syn	MT-CO2	Normal	African
20140721014	8017	C-A	syn	MT-CO2	Normal	African
20100804568	8278	C-A	non-coding	MT-NC7
20160806002	8539	C-A	ATP6: L-M, ATP8: I-M	ATP8, ATP6	presbycusis	Iranian
20100804611	8568	C-A	S-Y	MT-ATP8
20100804612	8568	C-A	I-M	MT-ATP6
20100804681	9099	C-A	I-M	MT-ATP6
20090714007	9186	C-A	syn	MT-ATP6	Aminoglycoside-induced hearing loss	Caucasian
20100804712	9335	C-A	syn	MT-CO3
20100804729	9528	C-A	P-T	MT-CO3
20090129013	9933	C-A	H-N	MT-CO3	COPD	Caucasian
20140318001	10394	C-A	D-E	MT-ND3	Cardiomyopathy	caucasian
20120618007	10557	C-A	L-I	MT-ND4L	LHON	Iranian
20100804839	10664	C-A	syn	MT-ND4L
20110503024	10751	C-A	N-K	MT-ND4L	Congenital Non-syndromic Deafness
20140730008	10888	C-A	N-K	MT-ND4	CAD+T2DM	Asian Indian
20040209016	11047	C-A	syn	MT-ND4	Oral Cancer	MUSLIM
20040209037	11054	C-A	L-M	MT-ND4	Oral Cancer	MARATHI
20100804918	11515	C-A	syn	MT-ND4
20040209055	11808	C-A	T-N	MT-ND4	Normal	GUJARATI
20100804939	11869	C-A	syn	MT-ND4
20120618008	12012	C-A	S-STOP	MT-ND4	LHON	Iranian
20141116001	12350	C-A	T 5 N	MT-ND5	hearing loss + psychomotor delay	Causasian / Africain
20051007001	12621	C-A	F-L	MT-ND5	Encephalopathy	Caucasian
20100805005	12633	C-A	syn	MT-ND5
20100805044	13035	C-A	syn	MT-ND5
20090910001	13468	C-A	L-M	MT-ND5	Aminoglycoside-induced hearing loss	Caucasian
20100805071	13468	C-A	L-M	MT-ND5
20100805114	13782	C-A	I-M	MT-ND5
19990316044	13880	C-A	S-Y	MT-ND5	-	-
20100805121	13880	C-A	S-Y	MT-ND5
20100805173	14245	C-A	syn	MT-ND6
20050919025	14281	C-A	syn	MT-ND6	Normal	Arabs
20100805192	14419	C-A	syn	MT-ND6
20100805204	14528	C-A	G-V	MT-ND6
20140217016	14980	C-A	I-M	MT-CYB	sCJD	Han Chinese
20100805255	15028	C-A	syn	MT-CYB
20050813024	15267	C-A	T-N	MT-CYB	Normal	Arabs
20080406003	15434	C-A	L-I	MT-CYB	Cardiomyopathy	Tunisian
20100805295	15452	C-A	L-I	MT-CYB
20140422008	15590	C-A	R-TERM	MT-CYB	Breast cancer	Senegalese
20140422028	15664	C-A	I-M	MT-CYB	Breast cancer	Senegalese
20140423004	15704	C-A	L-M	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
20030528073	16057	C-A	non-coding	Control Region	Oral Cancer	Asian Indian- Marathi
20030528041	16067	C-A	non-coding	Control Region	Oral Cancer	Asian Indian- Marathi
20091005007	16111	C-A	noncod	D-Loop	Normal	Kelantan Malays
20020507001	16147	C-A	noncod	D-Loop	Breast Tumor	-
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
20000211007	16192	C-A	noncod	D-Loop	-	Murut
20050309001	16239	C-A	non-coding	Control Region	Myopathy, tremor	Caucasian
20050419005	16242	C-A	non-coding	Control Region	LHON	Caucasian
20000914004	16259	C-A	noncod	D-Loop	-	Murut
20070609002	16287	C-A	non-coding	Control Region	Leigh Syndrome	Africain
20060605004	16327	C-A	non-coding	Control Region	Normal	Indigenous group-Bidayuh
20110302011	5743	C-del	non-coding	MT-OLR	combined complex I + IV deficiency
20030528078	33	C-G	non-coding	Control Region	Oral Cancer	Asian Indian- Marathi
20030529018	43	C-G	non-coding	Control Region	Oral Cancer	Asian Indian- Marathi
20030529043	48	C-G	non-coding	Control Region	Oral Cancer	Asian Indian
20030529044	76	C-G	non-coding	Control Region	Oral Cancer	Asian Indian
20030528127	91	C-G	non-coding	Control Region	Oral Cancer	Asian Indian- Sindhi
20030528130	104	C-G	non-coding	Control Region	Oral Cancer	Asian Indian- Sindhi
20030529019	105	C-G	non-coding	Control Region	Oral Cancer	Asian Indian- Marathi
20030528132	122	C-G	non-coding	Control Region	Oral Cancer	Asian Indian- Sindhi
20030528135	144	C-G	non-coding	Control Region	Oral Cancer	Asian Indian- Sindhi
20030529030	162	C-G	non-coding	Control Region	Oral Cancer	Asian Indian
20030528154	164	C-G	non-coding	Control Region	Oral Cancer	Asian Indian
20030529023	186	C-G	non-coding	Control Region	Oral Cancer	Asian Indian- Marathi
20030528002	264	C-G	non-coding	Control Region	Oral Cancer	Asian Indian- Bengali
20030528004	268	C-G	non-coding	Control Region	Oral Cancer	Asian Indian- Bengali
20030528005	271	C-G	non-coding	Control Region	Oral Cancer	Asian Indian- Bengali
20000915002	447	C-G	noncod	D-Loop	-	Punjabi
20091006002	447	C-G	noncod	D-Loop	Normal	Kedah Malays
20050919001	722	C-G	rRNA	MT-RNR1	Normal	Arabs
20100804019	957	C-G	rRNA	MT-RNR1
20100804022	962	C-G	rRNA	MT-RNR1
20100804053	1812	C-G	rRNA	MT-RNR2
20100804054	1813	C-G	rRNA	MT-RNR2
20100804086	2417	C-G	rRNA	MT-RNR2
20100804118	3204	C-G	rRNA	MT-RNR2
20111212002	3298	C-G	tRNA	MT-TL1	normal	Africain
20120618005	3893	C-G	T-S	MT-ND1	LHON	Iranian
20140729010	3900	C-G	F-L	MT-ND1	CAD+T2DM	Asian Indian
20040912002	4013	C-G	T-S	MT-ND1	Normal	Arabs
20140730001	4771	C-G	A-G	MT-ND2	CAD+T2DM	Asian Indian
20120124003	5213	C-G	syn	MT-ND2	Normal	Indonesian
20110801007	5743	C-G	non-coding	MT-OLR	Hearing Impairment	ASIAN
20090129002	6140	C-G	syn	MT-CO1	COPD	Caucasian
20100804541	7978	C-G	syn	MT-CO2
20100804570	8281	C-G	non-coding	MT-NC7
20100804622	8622	C-G	syn	MT-ATP6
20090129011	9869	C-G	syn	MT-CO3	COPD	Caucasian
20050813007	10159	C-G	S-C	MT-ND3	Normal	Arabs
20040209015	11140	C-G	I-M	MT-ND4	Oral Cancer	MARATHI
20100804894	11242	C-G	syn	MT-ND4
20070527008	11503	C-G	syn	MT-ND4	Breast Cancer	Caucasian
20110801015	11965	C-G	syn	MT-ND4	NORMAL	ASIAN
20100804973	12342	C-G	syn	MT-ND5
20100805038	12969	C-G	syn	MT-ND5
20040912004	13811	C-G	A-G	MT-ND5	Normal	Arabs
20141101003	14458	C-G	syn	MT-ND6	Diabetes ,Myopathy
20111213003	14886	C-G	T-Ter	MT-CYB	normal	Africain
20100805294	15451	C-G	F-L	MT-CYB
20140422002	15556	C-G	Syn	MT-CYB	Breast cancer	Senegalese
20140422019	15637	C-G	Syn	MT-CYB	Breast cancer	Senegalese
20030528137	16040	C-G	non-coding	Control Region	Oral Cancer	Asian Indian
20091005001	16111	C-G	noncod	D-Loop	Normal	Bugis Malays
20091005006	16176	C-G	noncod	D-Loop	Normal	Riau Malays
20080730002	16184	C-G	noncod	D-Loop	-	Chinese Tu ethnic group
20000224001	16187	C-G	noncod	D-Loop	-	Bisaya
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
20030528064	16363	C-G	non-coding	Control Region	Oral Cancer	Asian Indian- Muslim
20030528070	98	C-T	non-coding	Control Region	Oral Cancer	Asian Indian- Muslim
20030528131	114	C-T	non-coding	Control Region	Oral Cancer	Asian Indian- Sindhi
20010303003	147	C-T	noncod	D-Loop	Breast Cancer	Caucasian
20030527005	150	C-T	non-coding	Control Region	Oral Cancer	Asian Indian
20030528030	151	C-T	non-coding	Control Region	Oral Cancer	Asian Indian- Marathi
20021231008	186	C-T	noncod	D-Loop	Normal	Madia Gond tribe
20050106002	262	C-T	non-coding	Control Region	Normal	Caucasian
20050106003	269	C-T	non-coding	Control Region	Normal	Caucasian
20010828002	285	C-T	noncod	D-Loop	Sporadic Parathyroid Adenoma	-
20050106005	324	C-T	non-coding	Control Region	Normal	Caucasian
19990218006	340	C-T	noncod	D-Loop	Hearing Loss	Caucasian
20140729003	369	C-T	non-coding	Control Region	CAD+T2DM	Asian Indian
20000914001	463	C-T	noncod	D-Loop	-	-
20040713011	481	C-T	non-coding	Control Region	Esophageal Cancer	Asian
20040720003	481	C-T	non-coding	Control Region	Breast Cancer	Asian
20140214007	496	C-T	non-coding	Control Region		Caucasian
20130520002	522	C-T	non-coding	Control Region		S\xE3o Paulo
20040720004	530	C-T	non-coding	Control Region	Breast Cancer	Asian
20000914003	560	C-T	noncod	D-Loop	-	Kadazan-Dusun
20110302004	739	C-T	rRNA	MT-RNR1	combined complex I+IV defiency
20050308002	868	C-T	rRNA	MT-RNR1	Normal	Africain
20050308001	954	C-T	rRNA	MT-RNR1	Normal	Africain
20110302005	1009	C-T	rRNA	MT-RNR1	combined complex I + IV defiency
20081106002	1508	C-T	noncod	MT-RNR1	Non-Syndromic Hearing Impairment (NSHI)	Hindu
20100804040	1537	C-T	rRNA	MT-RNR1
20071219004	1556	C-T	rRNA	MT-RNR1	Normal	Caucasian
20101129001	1556	C-T	rRNA	MT-RNR1	Nonsyndromic Hearing Loss	Turkish
20010301006	1703	C-T	noncod	MT-RNR2	Breast Cancer	Caucasian
20060130005	1703	C-T	rRNA	MT-RNR2	Mental Retardation	Caucasian
20100804046	1711	C-T	rRNA	MT-RNR2
20041220007	1713	C-T	rRNA	MT-RNR2	Oral Cancer	Asian Indian-Marathi
20041220009	1715	C-T	rRNA	MT-RNR2	Oral Cancer	Asian Indian-Marathi
20100804048	1720	C-T	rRNA	MT-RNR2
20050919007	1721	C-T	rRNA	MT-RNR2	Normal	Arabs
20100804049	1721	C-T	rRNA	MT-RNR2
20100804067	2217	C-T	rRNA	MT-RNR2
20010828005	2218	C-T	noncod	MT-RNR2	Sporadic Parathyroid Adenoma	-
20100804068	2225	C-T	rRNA	MT-RNR2
20100804072	2259	C-T	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
20041220016	2396	C-T	rRNA	MT-RNR2	Oral Cancer	Asian Indian
20140630001	2523	C-T	rRNA	MT-RNR2	Temporal lobe epilepsy with hippocampal sclerosis
20100804098	2772	C-T	rRNA	MT-RNR2
20100804100	2789	C-T	rRNA	MT-RNR2
19990316007	3116	C-T	noncod	MT-RNR2	-	-
20041220015	3116	C-T	rRNA	MT-RNR2	Oral Cancer	Asian Indian-Marathi
20100804113	3116	C-T	rRNA	MT-RNR2
19990316008	3184	C-T	noncod	MT-RNR2	-	-
20100804119	3204	C-T	rRNA	MT-RNR2
20021231003	3206	C-T	noncod	MT-RNR2	MELAS	Caucasian
20100804121	3212	C-T	rRNA	MT-RNR2
20060518004	3342	C-T	syn	MT-ND1	-	Caucasian
20011206001	3351	C-T	syn	MT-ND1	Unknown cardio-facio-cutaneous syndrome	Caucasian
20090315003	3442	C-T	syn	MT-ND1	Uterine Leiomyomas	Asian Indian
20110503009	3486	C-T	syn	MT-ND1	Congenital Non-syndromic Deafness
20040217001	3507	C-T	syn	MT-ND1	-	Caucasian
20041107006	3516	C-T	syn	MT-ND1	Type 2 Diabetes Mellitus	Mongolia
20040809001	3528	C-T	syn	MT-ND1	Myopathy	Chinese-China
20040713001	3571	C-T	L-F	MT-ND1	Oral Cancer	Asian
19990316009	3594	C-T	syn	MT-ND1	-	-
20040210002	3594	C-T	syn	MT-ND1	NAION	Arabs
20100804152	3594	C-T	syn	MT-ND1
20040317012	3597	C-T	syn	MT-ND1	Normal	Saudi Arab
20090714006	3609	C-T	no	MT-ND1	Aminoglycoside-induced hearing loss	Caucasian
20100804154	3654	C-T	syn	MT-ND1
20100804157	3687	C-T	syn	MT-ND1
20091229001	3710	C-T	A-V	MT-ND1	Breast Cancer	Caucasian
20100804163	3738	C-T	syn	MT-ND1
20020409001	3741	C-T	syn	MT-ND1	MELAS	Caucasian
20020410001	3741	C-T	syn	MT-ND1	MELAS	Caucasian
20100804164	3741	C-T	syn	MT-ND1
20100804165	3747	C-T	syn	MT-ND1
20110503011	3783	C-T	syn	MT-ND1	Congenital Non-syndromic Deafness
20091229004	3846	C-T	syn	MT-ND1	Breast Cancer	Amerindian
20100804179	3874	C-T	syn	MT-ND1
20110503012	3894	C-T	syn	MT-ND1	Congenital Non-syndromic Deafness
20100804184	3969	C-T	syn	MT-ND1
20100804185	3990	C-T	syn	MT-ND1
20000825009	3992	C-T	T-M	MT-ND1	Pancreatic Cancer	Caucasian
20100804186	3992	C-T	T-M	MT-ND1
20080414003	4017	C-T	syn	MT-ND1	Hypertrophic Cardiomyopathy	Caucasian
20100804191	4017	C-T	syn	MT-ND1
20100804192	4020	C-T	syn	MT-ND1
20100804195	4025	C-T	T-M	MT-ND1
20101209002	4032	C-T	syn	MT-ND1	Cardiomyopathy
20100804202	4086	C-T	syn	MT-ND1
20100804203	4089	C-T	syn	MT-ND1
20100804206	4107	C-T	syn	MT-ND1
20100804232	4501	C-T	S-F	MT-ND2
20061030003	4505	C-T	syn	MT-ND2	Huntington Disease-Like 2	south African Mixed Ancestry
20100804237	4577	C-T	syn	MT-ND2
20100804240	4616	C-T	syn	MT-ND2
20100804246	4676	C-T	syn	MT-ND2
20110801005	4730	C-T	syn	MT-ND2	NORMAL	ASIAN
20100804256	4739	C-T	syn	MT-ND2
20100804258	4748	C-T	syn	MT-ND2
20100804260	4763	C-T	syn	MT-ND2
20100804272	4843	C-T	T-M	MT-ND2
20100804274	4898	C-T	syn	MT-ND2
20100804278	4936	C-T	T-I	MT-ND2
20100804279	4946	C-T	syn	MT-ND2
20140731002	5015	C-T	syn	MT-ND2	CAD	Asian Indian
20100804287	5024	C-T	syn	MT-ND2
20110503013	5117	C-T	syn	MT-ND2	Congenital Non-syndromic Deafness
20091229012	5141	C-T	syn	MT-ND2	Breast Cancer	Africain
20091229013	5144	C-T	syn	MT-ND2	Breast Cancer	Africain
20100804303	5174	C-T	syn	MT-ND2
20100804307	5206	C-T	S-F	MT-ND2
20100804308	5213	C-T	syn	MT-ND2
20050809004	5263	C-T	A-V	MT-ND2	Normal	Arabs
20091229014	5300	C-T	syn	MT-ND2	Breast Cancer	Africain
20000825015	5348	C-T	syn	MT-ND2	Pancreatic Cancer	Caucasian
20040317001	5360	C-T	syn	MT-ND2	Normal	Saudi Arab
20100804322	5360	C-T	syn	MT-ND2
20100804323	5375	C-T	syn	MT-ND2
20100804330	5437	C-T	T-I	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
20100804335	5463	C-T	L-F	MT-ND2
20100804338	5477	C-T	syn	MT-ND2
20100804351	5583	C-T	non-coding	MT-NC3
20100804353	5586	C-T	non-coding	MT-NC3
20100804356	5633	C-T	tRNA	MT-TA
20100804366	5817	C-T	tRNA	MT-TC
20110302013	5839	C-T	non-coding	MT-TY	complex I deficiency
20100804370	5840	C-T	non-coding	MT-TY
19990303003	6045	C-T	syn	MT-CO1	Hearing Loss	Caucasian
20100804383	6045	C-T	syn	MT-CO1
20060515001	6164	C-T	syn	MT-CO1	Progeria	Caucasian
20100804391	6164	C-T	syn	MT-CO1
20101004002	6164	C-T	syn	MT-CO1	INFERTILE	Africain
20140520003	6164	C-T	Syn	MT-CO1	infertile
20110503016	6188	C-T	syn	MT-CO1	Congenital Non-syndromic Deafness
20140217018	6228	C-T	L-F	MT-CO1	sCJD	Han Chinese
20110801003	6290	C-T	syn	MT-CO1	NORMAL	ASIAN
20100804410	6317	C-T	syn	MT-CO1
20100804411	6329	C-T	syn	MT-CO1
20100804412	6340	C-T	T-I	MT-CO1
20100804416	6371	C-T	syn	MT-CO1
20040210010	6386	C-T	syn	MT-CO1	NAION	Arabs
20090129006	6410	C-T	syn	MT-CO1	COPD	Caucasian
20100804421	6455	C-T	syn	MT-CO1
20000825005	6473	C-T	syn	MT-CO1	Pancreatic Cancer	Caucasian
20100804424	6473	C-T	syn	MT-CO1
20100804427	6518	C-T	syn	MT-CO1
20100804429	6528	C-T	syn	MT-CO1
20070612003	6546	C-T	L-F	MT-CO1	Normal	Saudi Arabs
19990316021	6548	C-T	syn	MT-CO1	-	-
20100804430	6548	C-T	syn	MT-CO1
20100804431	6554	C-T	syn	MT-CO1
20100804432	6557	C-T	syn	MT-CO1
20100804433	6560	C-T	syn	MT-CO1
20100804435	6617	C-T	syn	MT-CO1
20010828015	6656	C-T	syn	MT-CO1	Sporadic Parathyroid Adenoma	-
20100804440	6665	C-T	syn	MT-CO1
20100804454	6803	C-T	syn	MT-CO1
20100804458	6845	C-T	syn	MT-CO1
20100804459	6887	C-T	syn	MT-CO1
20100804466	7007	C-T	syn	MT-CO1
20100804469	7028	C-T	syn	MT-CO1
20100804475	7151	C-T	syn	MT-CO1
19990316028	7256	C-T	syn	MT-CO1	-	-
20100804483	7256	C-T	syn	MT-CO1
20100804486	7259	C-T	syn	MT-CO1
19990316029	7274	C-T	syn	MT-CO1	-	-
20100804489	7274	C-T	syn	MT-CO1
20110503017	7280	C-T	syn	MT-CO1	Congenital Non-syndromic Deafness
20100804503	7468	C-T	tRNA	MT-TS1
20111230004	7471	C-T	tRNA	MT-TS1	non syndromic hearing loss	caucasian
20100804504	7476	C-T	tRNA	MT-TS1
20100804516	7715	C-T	syn	MT-CO2
20100804517	7721	C-T	L-F	MT-CO2
20060130003	7774	C-T	syn	MT-CO2	Encephalopathy	Caucasian
20111230005	7792	C-T	syn	MT-CO2	non-syndromic hearing loss	Caucasian
20100906004	7813	C-T	syn	MT-CO2	Breast cancer
20100804530	7849	C-T	syn	MT-CO2
20060518007	7864	C-T	syn	MT-CO2	Epilepsy	-
20100804533	7864	C-T	syn	MT-CO2
20100804534	7867	C-T	syn	MT-CO2
20100906006	8017	C-T	syn	MT-CO2	Breast cancer
20100804546	8059	C-T	syn	MT-CO2
20041210005	8137	C-T	syn	MT-CO2	Oral Cancer	Asian Indian-Muslim
20090129007	8137	C-T	syn	MT-CO2	COPD	Caucasian
20100804551	8137	C-T	syn	MT-CO2
20041210009	8212	C-T	syn	MT-CO2	Oral Cancer	Asian Indian-Malayali
20100804565	8270	C-T	non-coding	MT-NC7
20100804566	8273	C-T	non-coding	MT-NC7
20100804571	8281	C-T	non-coding	MT-NC7
20040608002	8309	C-T	tRNA	MT-TK	Subfertile	Caucasian
20040210011	8386	C-T	syn	MT-ATP8	NAION	Arabs
20100804581	8393	C-T	P-S	MT-ATP8
20110801009	8394	C-T	P-L	MT-ATP8	NORMAL	ASIAN
20100804582	8395	C-T	syn	MT-ATP8
20021231004	8414	C-T	L-F	MT-ATP8	MERRF	Caucasian
20021231005	8431	C-T	S-L	MT-ATP8	MERRF	Caucasian
20100804587	8455	C-T	syn	MT-ATP8
20100804589	8468	C-T	syn	MT-ATP8
20100804605	8558	C-T	P-S	MT-ATP8
20100804606	8558	C-T	A-V	MT-ATP6
20040210012	8559	C-T	syn	MT-ATP6	NAION	Arabs
20040210026	8559	C-T	P-L	MT-ATP8	NAION	Arabs
20100804607	8562	C-T	P-L	MT-ATP8
20100804608	8562	C-T	syn	MT-ATP6
20100804628	8655	C-T	syn	MT-ATP6
20050809011	8684	C-T	T-I	MT-ATP6	Normal	Arabs
20100804631	8684	C-T	T-I	MT-ATP6
20100804636	8703	C-T	syn	MT-ATP6
20100804642	8765	C-T	A-V	MT-ATP6
20100804644	8818	C-T	syn	MT-ATP6
20110801011	8855	C-T	A-V	MT-ATP6	NORMAL	ASIAN
19990316034	8932	C-T	P-S	MT-ATP6	-	-
20030723001	8932	C-T	P-S	MT-ATP6	Encephalomyopathy plus other symptoms	Caucasian
20100804665	9015	C-T	syn	MT-ATP6
20100804672	9056	C-T	A-V	MT-ATP6
20110503022	9061	C-T	syn	MT-ATP6	Congenital Non-syndromic Deafness
20100804691	9129	C-T	syn	MT-ATP6
20100804704	9282	C-T	syn	MT-CO3
19990323002	9293	C-T	syn	MT-CO3	Ophthalmoplegia,Deafness	Caucasian
20100804706	9296	C-T	syn	MT-CO3
20100804709	9301	C-T	A-V	MT-CO3
20080120001	9335	C-T	syn	MT-CO3	KSS	Caucasian/Africain
20100804716	9365	C-T	syn	MT-CO3
20100804720	9383	C-T	syn	MT-CO3
20100804722	9391	C-T	T-M	MT-CO3
20010828022	9426	C-T	P-S	MT-CO3	Sporadic Parathyroid Adenoma	-
20010828024	9426	C-T	P-S	MT-CO3	Sporadic Parathyroid Adenoma	-
20100804726	9469	C-T	T-I	MT-CO3
20100804728	9521	C-T	syn	MT-CO3
20100804741	9693	C-T	syn	MT-CO3
20140217003	9732	C-T	L-L	MT-CO3	sCJD	Han Chinese
20100804747	9742	C-T	S-L	MT-CO3
20100804750	9761	C-T	syn	MT-CO3
20090129010	9806	C-T	syn	MT-CO3	COPD	Caucasian
20040912003	9822	C-T	L-F	MT-CO3	Normal	Arabs
20140217004	9974	C-T	I-I	MT-CO3	sCJD	Han Chinese
20100804783	10142	C-T	syn	MT-ND3
20100804786	10169	C-T	syn	MT-ND3
20100804789	10192	C-T	S-F	MT-ND3
20100804790	10196	C-T	syn	MT-ND3
20100804792	10211	C-T	syn	MT-ND3
20080117008	10308	C-T	syn	MT-ND3	Deafness	Caucasian/Africain
20140730006	10331	C-T	syn	MT-ND3	CAD+T2DM	Asian Indian
20100804814	10394	C-T	syn	MT-ND3
20120618003	10399	C-T	A-T	MT-ND3	LHON	Iranian
20140731003	10592	C-T	syn	MT-ND4L	CAD	Asian Indian
20100804832	10607	C-T	syn	MT-ND4L
20100804834	10619	C-T	syn	MT-ND4L
20100804835	10628	C-T	syn	MT-ND4L
20100804840	10670	C-T	syn	MT-ND4L
20100804845	10733	C-T	syn	MT-ND4L
20040209025	10812	C-T	S-F	MT-ND4	Oral Cancer	SINDHI
20100804854	10822	C-T	syn	MT-ND4
20091229018	10837	C-T	syn	MT-ND4	Breast Cancer	Africain
20040209028	10845	C-T	T-I	MT-ND4	Oral Cancer	SINDHI
20100804856	10845	C-T	T-I	MT-ND4
20100804863	10900	C-T	syn	MT-ND4
20100804867	10920	C-T	P-L	MT-ND4
20040209036	10969	C-T	syn	MT-ND4	Oral Cancer	MARATHI
20100804872	11005	C-T	syn	MT-ND4
20100804876	11039	C-T	L-F	MT-ND4
20100804878	11071	C-T	syn	MT-ND4
20040209040	11073	C-T	S-F	MT-ND4	Oral Cancer	MARATHI
20040209041	11074	C-T	syn	MT-ND4	Oral Cancer	MARATHI
20100804885	11155	C-T	syn	MT-ND4
20000825007	11177	C-T	P-S	MT-ND4	Pancreatic Cancer	Caucasian
20100804889	11197	C-T	syn	MT-ND4
20100804890	11203	C-T	syn	MT-ND4
20040209031	11215	C-T	syn	MT-ND4	Oral Cancer	Asian Indian
20001017004	11302	C-T	syn	MT-ND4	Lung Cancer	African/American
20100804899	11326	C-T	syn	MT-ND4
20040209033	11332	C-T	syn	MT-ND4	Oral Cancer	Asian Indian
20100804900	11332	C-T	syn	MT-ND4
20040713005	11407	C-T	syn	MT-ND4	Oral Cancer	Asian
20140217005	11407	C-T	L-L	MT-ND4	sCJD	Han Chinese
20040210023	11422	C-T	syn	MT-ND4	NAION	Arabs
20100804919	11533	C-T	syn	MT-ND4
20060130002	11674	C-T	syn	MT-ND4	Mental Retardation	Caucasian
20100804924	11674	C-T	syn	MT-ND4
20110503025	11698	C-T	syn	MT-ND4	Congenital Non-syndromic Deafness
20080117010	11743	C-T	syn	MT-ND4	Deafness	Caucasian/Africain
20040210024	11761	C-T	syn	MT-ND4	NAION	Arabs
20100804930	11788	C-T	syn	MT-ND4
20100804934	11815	C-T	syn	MT-ND4
20100804935	11840	C-T	syn	MT-ND4
20100804936	11851	C-T	syn	MT-ND4
20100804945	11932	C-T	syn	MT-ND4
20100804946	11938	C-T	syn	MT-ND4
20100804947	11939	C-T	syn	MT-ND4
20100804950	11965	C-T	syn	MT-ND4
20100804952	11977	C-T	syn	MT-ND4
20001017005	12020	C-T	syn	MT-ND4	Lung Cancer	African/American
20100804954	12025	C-T	syn	MT-ND4
20100804956	12063	C-T	T-I	MT-ND4
20080416001	12133	C-T	syn	MT-ND4	MELAS	Caucasian
20100804962	12133	C-T	syn	MT-ND4
20010301008	12237	C-T	noncod	MT-TS2	Breast Cancer	Caucasian
20100804969	12246	C-T	tRNA	MT-TS2
20040713006	12284