Species: Homo sapiens Rearrangement type: Deletions

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Single mtDNA deletions Deletion length - bp Deletion of replication origins Location of the deleted region Multiple mtDNA deletions Healthy tissues Parkinson Disease Inclusion Body Myositis Tumour Other clinical features All

KSS PEO PS

Deletions	5' breakpoint	3' breakpoint	Deletion length - bp	Deletion of replication origins	Location of the deleted region	Single mtDNA deletions	Multiple mtDNA deletions	Healthy tissues	Parkinson Disease	Inclusion Body Myositis	Tumour	Other clinical features	References
Deletions	5' breakpoint	3' breakpoint	Deletion length - bp	Deletion of replication origins	Location of the deleted region	Single mtDNA deletions	Multiple mtDNA deletions	Healthy tissues	Parkinson Disease	Inclusion Body Myositis	Tumour	Other clinical features	References
478:5160	478	5160	4681	None	Inside the minor arc	KSS							[58; 265]
547:4443	547	4443	3895	None	Inside the minor arc	KSS; PEO	ad/ar-PEO	Aged tissues; Skin (epithelial(...)			Non-melanoma skin cancer	PEO-like HIV patients; Chronic(...)	[14; 41; 138; 168-174; 265; 32(...)
5787:13920	5787	13920	8132	None	Inside the major arc	KSS; PEO	ad-PEO						[11; 279]
5787:13924	5787	13924	8136	None	Inside the major arc	KSS; PEO	ad-PEO	Aged tissues				Hippocampal tissue of patients(...)	[9; 11; 279; 330]
5836:12662	5836	12662	6825	None	Inside the major arc	KSS							[40]
6003:15441	6003	15441	9437	None	Inside the major arc	KSS							[26]
6023:14424	6023	14424	8400	None	Inside the major arc	KSS							[118]
6084:13808	6084	13808	7723	None	Inside the major arc	KSS							[40; 265]
6124:15893	6124	15893	9768	None	Inside the major arc	KSS							[259]
6226:13456	6226	13456	7229	None	Inside the major arc	KSS							[118; 265; 326]
6238:14103	6238	14103	7864	None	Inside the major arc	KSS							[152]
6326:13990	6326	13990	7663	None	Inside the major arc	KSS						Mitochondrial myopathy; Multis(...)	[136; 137]
6329:13994	6329	13994	7664	None	Inside the major arc	KSS; PS; PEO		Aged tissues				Reye-like; MELAS; LS; Skeletal(...)	[9; 26; 32; 45; 119; 265; 326;(...)
6331:13994	6331	13994	7662	None	Inside the major arc	KSS						Multisystemic mitochondrial di(...)	[3]
6341:14005	6341	14005	7663	None	Inside the major arc	KSS	MNGIE; ad-PEO; Patients with p(...)					Ptosis; Proximal limb weakness(...)	[15; 40; 265; 282; 315; 326-32(...)
7193:14596	7193	14596	7402	None	Inside the major arc	KSS							[19]
7449:15926	7449	15926	8476	None	Inside the major arc	KSS; PEO							[11; 15]
7491:11004	7491	11004	3512	None	Inside the major arc	KSS; PEO						Complex I deficiency	[11; 154; 265]
7506:14433	7506	14433	6926	None	Inside the major arc	KSS		Aged tissues					[6; 40; 326]
7508:15939	7508	15939	8430	None	Inside the major arc	KSS		Sublimons					[23; 26]
7635:15440	7635	15440	7804	None	Inside the major arc	KSS						Lowe Syndrome	[141]
7669:15437	7669	15437	7767	None	Inside the major arc	KSS; PEO						Evolution from PS; Sideroblast(...)	[11; 155; 265]
7696:12365	7696	12365	4668	None	Inside the major arc	KSS							[34]
7697:12364	7697	12364	4666	None	Inside the major arc	KSS						Mitochondrial myopathy	[34; 108]
7828:13385	7828	13385	5556	None	Inside the major arc	KSS							[18]
7846:9749	7846	9749	1902	None	Inside the major arc	PEO; KSS		Myoblasts					[40; 160; 161]
7869:13455	7869	13455	5585	None	Inside the major arc	KSS							[322; 326]
7885:15698	7885	15698	7812	None	Inside the major arc	KSS							[302]
7949:14315	7949	14315	6365	None	Inside the major arc	KSS							[26]
7982:15504	7982	15504	7521	None	Inside the major arc	KSS; PEO	Mitochondrial myopathy					MELAS; Ptosis; Proximal limb w(...)	[15; 40; 42; 43; 265; 326; 330(...)
7983:15504	7983	15504	7520	None	Inside the major arc	KSS							[302]
8135:15340	8135	15340	7204	None	Inside the major arc	KSS							[312]
8278:13770	8278	13770	5491	None	Inside the major arc	KSS							[274]
8280:8290	8280	8290	9	None	Inside the major arc	KSS		Normal tissues (polymorphism)				Adrenal failure; Sensineural h(...)	[53; 61-106]
8387:11364	8387	11364	2976	None	Inside the major arc	KSS							[322]
8420:11498	8420	11498	3077	None	Inside the major arc	KSS							[3]
8426:12894	8426	12894	4467	None	Inside the major arc	KSS							[40]
8426:15640	8426	15640	7213	None	Inside the major arc	KSS						Multisystemic mitochondrial di(...)	[322]
8468:13446	8468	13446	4977	None	Inside the major arc	KSS; PEO				Inclusion body myositis			[11; 24; 44]
8475:14381	8475	14381	5905	None	Inside the major arc	KSS		Aged tissues				Hippocampal tissue of patients(...)	[9; 322; 330]
8476:14812	8476	14812	6335	None	Inside the major arc	KSS		Aged tissues					[18; 44; 163]
8482:13460	8482	13460	4977	None	Inside the major arc	KSS; PEO; PS	ad/ar-PEO; ad/ar-PEO (POLGmut)	Aged tissues; Unfertilized ooc(...)	Parkinson Disease	Inclusion body myopathy (ad); (...)	Thyroid, Hepatic, Warthin's, G(...)	Reye-like; Alzheimer Disease; (...)	[2; 6; 11; 18; 21; 22; 24; 25;(...)
8518:15422	8518	15422	6903	None	Inside the major arc	PEO; KSS						MELAS	[40; 43]
8562:14429	8562	14429	5866	None	Inside the major arc	KSS							[322]
8563:14596	8563	14596	6032	None	Inside the major arc	KSS; PEO							[11]
8571:13237	8571	13237	4665	None	Inside the major arc	KSS; PEO							[11-13]
8572:15826	8572	15826	7253	None	Inside the major arc	KSS							[259]
8588:13730	8588	13730	5141	None	Inside the major arc	PEO; KSS							[2]
8631:13580	8631	13580	4948	None	Inside the major arc	KSS							[149]
8648:16085	8648	16085	7436	None	Inside the major arc	PS; KSS	Mitochondrial myopathy; Patien(...)	Sublimons; Aged tissues; Unfer(...)		Inclusion body myositis	Hepatic tumors	Cirrhotic liver; Diabetes mell(...)	[18; 21-24; 29; 107; 144; 146;(...)
8823:15855	8823	15855	7031	None	Inside the major arc	KSS; PEO							[11; 265]
8838:14906	8838	14906	6067	None	Inside the major arc	KSS						Mitochondrial myopathy; Multis(...)	[136; 137; 265]
9144:13816	9144	13816	4671	None	Inside the major arc	KSS							[118; 265]
9180:14281	9180	14281	5100	None	Inside the major arc	KSS; PEO							[11]
9258:13627	9258	13627	4368	None	Inside the major arc	KSS							[3]
9484:13724	9484	13724	4239	None	Inside the major arc	KSS							[153]
9497:13735	9497	13735	4237	None	Inside the major arc	KSS; PEO; PS	Mitochondrial myopathy	Aged tissues; Unfertilized ooc(...)				Peripheral myopathy; Mitochond(...)	[7; 18; 21; 26; 32; 280; 330]
10051:15077	10051	15077	5025	None	Inside the major arc	KSS						SNHL	[61; 276]
10063:14598	10063	14598	4534	None	Inside the major arc	KSS						Isolated mitochondrial myopath(...)	[40; 41]
10154:15945	10154	15945	5790	None	Inside the major arc	PEO; KSS							[40; 138; 161]
10169:14435	10169	14435	4265	None	Inside the major arc	KSS; PEO							[11]
10207:13766	10207	13766	3558	None	Inside the major arc	KSS							[36]
10370:15570	10370	15570	5199	None	Inside the major arc	KSS							[40]
10559:14981	10559	14981	4421	None	Inside the major arc	PS; KSS							[3]
10587:15913	10587	15913	5325	None	Inside the major arc	KSS							[40]
10625:13059	10625	13059	2433	None	Inside the major arc	KSS							[26]
10951:15372	10951	15372	4420	None	Inside the major arc	PEO; KSS						Skeletal muscle biopsies and ï(...)	[18; 26; 40; 44; 265; 329]
10952:13990	10952	13990	3037	None	Inside the major arc	KSS							[3]
10953:15837	10953	15837	4883	None	Inside the major arc	KSS						Mitochondrial myopathy; Multis(...)	[136; 137]
10969:14119	10969	14119	3149	None	Inside the major arc	KSS						Cyclic vomiting syndrome	[127]
11036:15028	11036	15028	3991	None	Inside the major arc	KSS							[18]
11258:14369	11258	14369	3110	None	Inside the major arc	KSS							[30]
11368:15786	11368	15786	4417	None	Inside the major arc	KSS; PEO							[11]
11668:15916	11668	15916	4247	None	Inside the major arc	KSS							[18]
11731:14450	11731	14450	2718	None	Inside the major arc	KSS							[26]
12103:14414	12103	14414	2310	None	Inside the major arc	KSS; PEO							[11; 265]
12104:14413	12104	14413	2308	None	Inside the major arc	KSS; PS; PEO						Reye-like; MELAS; LS; Mitochon(...)	[45-48; 107]
12112:14422	12112	14422	2309	None	Inside the major arc	KSS; PEO; PS						Reye-like; MELAS; LS; Multisys(...)	[26; 40; 44-48; 322]
12122:15844	12122	15844	3721	None	Inside the major arc	KSS							[29]
12203:15355	12203	15355	3151	None	Inside the major arc	PEO; KSS						Isolated mitochondrial myopath(...)	[41; 138]
6113:13970	6113	13970	7856	None	Inside the major arc	KSS							[332]