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Species: Homo sapiens
Rearrangement type: Deletions

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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
5478:12948 5478 12948 7469 OL Removing part of minor and maj(...) PS [322]
5793:12767 5793 12767 6973 None Inside the major arc PS [107]
6074:9179 6074 9179 3104 None Inside the major arc PS [107]
6329:13994 6329 13994 7664 None Inside the major arc KSS; PS; PEO Aged tissues Reye-like; MELAS; LS [9; 26; 32; 45; 119; 265]
6466:14135 6466 14135 7668 None Inside the major arc PS [223]
7777:13794 7777 13794 6016 None Inside the major arc PS [117]
8050:13285 8050 13285 5234 None Inside the major arc PS [317]
8130:13161 8130 13161 5030 None Inside the major arc PS [317]
8304:15055 8304 15055 6750 None Inside the major arc PS [107]
8437:14068 8437 14068 5630 None Inside the major arc PS [31]
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;(...)
8536:15439 8536 15439 6902 None Inside the major arc PS Anemia and Renal Tubulopathy [1; 2]
8583:15958 8583 15958 7374 None Inside the major arc PS [143]
8648:16085 8648 16085 7436 None Inside the major arc PS; KSS Mitochondrial myopathy Sublimons; Aged tissues; Unfer(...) Inclusion body myositis Hepatic tumors Cirrhotic liver; Diabetes mell(...) [18; 21-24; 29; 107; 144; 146;(...)
9238:15576 9238 15576 6337 None Inside the major arc PS [299]
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]
9995:15897 9995 15897 5901 None Inside the major arc PS [107; 116; 265]
10004:15360 10004 15360 5355 None Inside the major arc PEO; PS [297]
10053:13412 10053 13412 3358 None Inside the major arc PS [322]
10058:13378 10058 13378 3319 None Inside the major arc PS Multisytemic mitochondrial dis(...) [322]
10198:13761 10198 13761 3562 None Inside the major arc PS [107; 116; 265]
10367:12829 10367 12829 2461 None Inside the major arc PS [158]
10418:15570 10418 15570 5151 None Inside the major arc PS [3]
10559:14981 10559 14981 4421 None Inside the major arc PS; KSS [3]
10668:14859 10668 14859 4190 None Inside the major arc PS Chronic diarrhea and villous a(...) [107; 116; 135]
10676:14868 10676 14868 4191 None Inside the major arc PS [125]
10891:16075 10891 16075 5183 None Inside the major arc PS [322]
11036:15441 11036 15441 4404 None Inside the major arc PS [2]
11232:13980 11232 13980 2747 None Inside the major arc PS Diabetes mellitus and deafness [116; 123-125; 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]
12113:14421 12113 14421 2307 None Inside the major arc PS [3]
12113:14422 12113 14422 2308 None Inside the major arc PS [107]