Deletion Junction (nt:nt) | Deletion Size(bp) | Repeat Type | Repeat Location | Patient ID | References |
---|---|---|---|---|---|
5786:13923 | -8136 | D, 4/4 | 5785-5788/13918-13921 | 22 | 1 |
5787:13920 | -8132 | D, 4/4 | 5785-5788/13918-13921 | 22 | 1 |
7469:16071 | -8601 | D, 4/4 | 7469-7472/16071-16074 | 26 | 1 |
7818:16071 | -8252 | D, 6/6 | 7819-7824/16071-16076 | 26 | 1 |
7819:16070 | -8250 | D, 6/6 | 7819-7824/16071-16076 | 26 | 1 |
7869:16075 | -8205 | D, 7/7 | 7872-7878/16072-16078 | 26 | 1 |
7920:16078 | -8157 | D, 4/4 | 7915-7918/16068-16071 | 26 | 1 |
7922:16074 | -8151 | D, 4/4 | 7919-7922/16065-16068 | 26 | 1 |
7989:16071 | -8081 | D, 5/5 | 7986-7990/16065-16069 | 26 | 1 |
7991:16070 | -8078 | D, 5/5 | 7986-7990/16065-16069 | 26 | 1 |
7817:16071 | -8253 | D, 6/6 | 7819-7824/16071-16076 | 27 | 1 |
7819:16071 | -8251 | D, 6/6 | 7820-7825/16071-16076 | 27 | 1 |
7919:16070 | -8150 | D, 4/4 | 7915-7918/16069-16072 | 27 | 1 |
7989:16071 | -8081 | D, 5/5 | 7986-8990/16065-16069 | 27 | 1 |
7990:16068 | -8077 | D, 5/5 | 7986-7990/16065-16069 | 27 | 1 |
8029:16071 | -8041 | D, 6/7 | 8030-8036/16071-16076 | 27 | 1 |
8030:16071 | -8040 | D, 6/7 | 8030-8036/16071-16076 | 27 | 1 |
8030:16070 | -8039 | D, 6/7 | 8030-8036/16071-16076 | 52 | 1 |
8636:16073 | -7436 | D, 12/12 | 8637-8648/16073-16084 | 52 | 1 |
7914:16070 | -8155 | D, 4/4 | 7915-7918/16069-16072 | 53 | 1 |
8254:16070 | -7815 | D, 3/3 | 8252-8254/16071-16073 | 53 | 1 |
9281:13810 | -4528 | D, 8/8 | 9274-9281/13801-13808 | 12 | 1 |
9440:14083 | -4642 | D, 10/10 | 9431-9440/14072-14081 | 12 | 1 |
9444:13964 | -4519 | D, 8/8 | 9437-9444/13955-13962 | 12 | 1 |
9497:13735 | -4237 | D, 12/12 | 9486-9497/13722-13733 | 12 | 1 |
9532:14135 | -4602 | D, 7/7 | 9526-9532/14127-14133 | 12 | 1 |
9574:13951 | -4376 | D, 4/4 | 9571-9574/13946-13949 | 12 | 1 |
9587:13953 | -4366 | D, 9/9 | 9579-9587/13943-13951 | 12 | 1 |
9600:14138 | -4537 | D, 5/5 | 9596-9600/14132-14136 | 12 | 1 |
9609:14147 | -4537 | D, 5/5 | 9606-9610/14141-14145 | 12 | 1 |
10758:14138 | -3379 | D, 8/8 | 10151-10758/14128-14136 | 12 | 1 |
10925:14152 | -3226 | D, 5/5 | 10921-10925/14146-14150 | 12 | 1 |
13761:14252 | -490 | D, 8/8 | 13754-13761/14243-14250 | 12 | 1 |
7899:15642 | -7742 | D, 4/4 | 7905-7908/15646-15649 | 1-III-8 | 1 |
7920:16071 | -8150 | D, 4/4 | 7919-7922/16065-16068 | 2-III-3 | 1 |
9079:15312 | -6232 | D, 5/5 | 9075-9079/15307-15311 | 2-IV-5 | 1 |
7794:16072 | -8277 | D, 6/6 | 7794-7799/16072-16077 | 3-II-5 | 1 |
9193:15322 | -6128 | D, 6/7 | 9189-9194/15319-15325 | 3-III-9 | 1 |
547:4443 | -3895 | D, 13/13 | 536-548/4430-4442 | AD-PEO 1-3 | 1 |
8469:13447 | -4977 | D, 13/13 | 8470-8482/13447-13459 | AD-PEO 1-3, AR-PEO 1-3 | 1 |
9844:16064 | -6219 | D, 9/10 | 9833-9844/16061-16070 | II-5 | 1 |
9966:15801 | -5834 | D, 4/5 | 9952-9956/15798-15802 | II-5 | 1 |
7619:15032 | -7412 | D, 4,4 | 7620-7623/15032-15035 | III-1 | 1 |
7845:15761 | -7915 | D, 4/4 | 7841-7845/15751-15753 | III-1 | 1 |
7931:15761 | -7829 | D, 7/8 | 7924-7931/15760-15767 | III-1 | 1 |
7775:13532 | -5756 | D, 7/7 | 7769-7775/13525-13531 | Proband-Aged | 1 |
7959:13787 | -5827 | D, 6/6 | 7954-7959/13781-13786 | Proband-Aged | 1 |
7992:15730 | -7737 | D, 7/7 | 7986-7992/15723-15729 | Proband-Aged | 1 |
8030:16075 | -8044 | D, 5/5 | 8030-8034/16071-16075 | Proband-Aged | 1 |
8034:16076 | -8041 | D, 5/5 | 8030-8034/16071-16075 | Proband-Aged | 1 |
8213:16070 | -7856 | D, 6/6 | 8207-8212/16071-16076 | Proband-Aged | 1 |
8439:16075 | -7635 | D, 7/7 | 8433-8439/16068-16074 | Proband-Aged | 1 |
8476:14812 | -6335 | D, 7/7 | 8470-8476/14805-14811 | Proband-Aged | 1 |
8482:13460 | -4977 | D, 13/13 | 8470-8482/13447-13459 | Proband-Aged | 1 |
8648:16085 | -7436 | D, 12/12 | 8637-8648/16073-16084 | Proband-Aged | 1 |
8387:16071 | -7683 | NR | . | Proband-Chronic Fatigue | 1 |
8612:16072 | -7459 | NR | . | Proband-Chronic Fatigue | 1 |
8631:13513 | -4881 | D, 7/7 | 8625-8631/13506-13512 | Proband-Chronic Fatigue | 1 |
9591:13052 | -3460 | D, 6/6 | 9546-9591/13046-13051 | Proband-MD | 1 |
6341:14005 | -7663 | D, 11/11 | Not Reported | Proband-MNGIE | 1 |
11480:16071 | -4591 | D, 3/4 | Not Reported | Proband-MNGIE | 1 |
8316:15802 | -7485 | NR | . | Proband-UV | 1 |
8344:15633 | -7288 | NR | . | Proband-UV | 1 |
8553:15585 | -7031 | NR | . | Proband-UV | 1 |
8580:15731 | -7150 | D, 7/7 | 8581-8587/15731-15737 | Proband-UV | 1 |
7967:11312 | -3344 | D, 5/5 | 7968-7972/11312-11316 | Sib1, Sib2 | 1 |
8727:13698 | -4970 | D, 6/6 | 8712-8717/13688-13693 | Sib1, Sib2, Mother | 1 |
8774:13990 | -5215 | D, 6/6 | 8772-8777/14001-14006 | Sib1, Sib2, Mother | 1 |
8931:13766 | -4834 | D, 6/6 | 8931-8936/13768-13773 | Sib1, Sib2, Mother | 1 |
7474-7479:11435-11440 | -3960 | D, 5/5 | 7475-7479/11435-11439 | Subject 01 Fiber 01 | 1 |
11514:13810 | -2295 | NR | . | Subject 01 Fiber 02 | 1 |
11739:15572 | -3832 | NR | . | Subject 01 Fiber 03 | 1 |
6862:13061 | -6198 | NR | . | Subject 01 Fiber 04 | 1 |
5787:13924 | -8136 | NR | . | Subject 01 Fiber 05 | 1 |
6330-6341:13994-14005 | -7663 | D, 16/17 | 6325-6341/13989-14004 | Subject 01 Fiber 06 | 1 |
5787:15576 | -9788 | NR | . | Subject 01 Fiber 07 | 1 |
9799:15557 | -5757 | NR | . | Subject 02 Fiber 08 | 1 |
9921:16071 | -6149 | NR | . | Subject 02 Fiber 09 | 1 |
6429:14101 | -7671 | NR | . | Subject 02 Fiber 10 | 1 |
9665:15183 | -5517 | NR | . | Subject 02 Fiber 11 | 1 |
8568-8576:13954-13962 | -5385 | D, 8/8 | 8569-8576/13954-13961 | Subject 02 Fiber 12 | 1 |
7181:14565 | -7383 | I, 4/4 | 7182-7185/14565-14568 | Subject 06 Fiber 13 | 1 |
9242-9246:13054-13058 | -3811 | D, 4/4 | 9243-9246/13054-13057 | Subject 06 Fiber 14 | 1 |
7723:14110 | -6386 | NR | . | Subject 06 Fiber 15 | 1 |
7175-7185:14110-14120 | -6934 | D, 10/10 | 7176-7185/14110-14119 | Subject 06 Fiber 16 | 1 |
9766-9773:13749-13756 | -3982 | D, 7/7 | 9767-9773/13749-13755 | Subject 06 Fiber 17 | 1 |
4881:16067 | -11185 | NR | . | Subject 06 Fiber 18 | 1 |
6330-6340:13994-14005 | -7663 | D, 16/17 | 6325-6341/13989-14004 | Subject 06 Fiber 19 | 1 |
10934-10939:15525-15530 | -4590 | D, 5/5 | 10935-10939/15525-15529 | Subject 06 Fiber 20 | 1 |
7402:13677 | -6274 | NR | . | Subject 06 Fiber 21 | 1 |
9346-9351:13149-13154 | -3802 | D, 7/8 | 9344-9351/13146-13153 | Subject 06 Fiber 22 | 1 |
7404-7407:12393-12396 | -4988 | D, 10/11 | 7397-7407/12385-12395 | Subject 06 Fiber 23 | 1 |
9578-9587:13944-13953 | -4365 | D, 9/9 | 9579-9587/13944-13952 | Subject 06 Fiber 24 | 1 |
9251-9258:14422-14429 | -5170 | D, 7/7 | 9252-9258/14422-14428 | Subject 09 Fiber 25 | 1 |
8466-8475:14372-14381 | -5905 | D, 9/9 | 8467-8475/14372-14380 | Subject 09 Fiber 26 | 1 |
12079-12084:15849-15854 | -3769 | D, 5/5 | 12080-12084/15849-15853 | Subject 09 Fiber 27 | 1 |
7407-7414:14561-14568 | -7153 | D, 12/13 | 7402-7414/14555-14567 | Subject 09 Fiber 28 | 1 |
16157-16164:16312-16319 | -154 | D, 7/7 | 16158-16164/16312-16318 | Subject 09 Fiber 29 | 1 |
6330-6341:13994-14005 | -7663 | D, 16/17 | 6325-6341/13989-14004 | Subject 09 Fiber 30 | 1 |
7850:13474 | -5623 | NR | . | Subject 09 Fiber 31 | 1 |
8555-8561:13979-13985 | -5429 | D, 6/6 | 8556-8561/13979-13984 | Subject 09 Fiber 32 | 1 |
6936-6940:15447-15451 | -8510 | D, 7/8 | 6933-6940/15444-15450 | Subject 10 Fiber 33 | 1 |
6522-6527:15050-15055 | -8527 | D, 8/9 | 6523-6531/15050-15058 | Subject 10 Fiber 34 | 1 |
10493-10497:14756-14760 | -4262 | D, 4/4 | 10494-10497/14756-14759 | Subject 10 Fiber 35 | 1 |
6330-6341:13994-14005 | -7663 | D, 16/17 | 6325-6341/13989-14004 | Subject 10 Fiber 36, 37 | 1 |
6936-6940:15447-15451 | -8510 | D, 4/4 | 6937-6940/15447-15450 | Subject 10 Fiber 38, 39 | 1 |
3263:16071 | -12807 | NR | . | Subject 10 Fiber 40 | 1 |
10977-10984:15536-15543 | -4557 | D, 7/7 | 10978-10984/15536-15542 | Subject 11 Fiber 41 | 1 |
7857:12283 | -4425 | NR | . | Subject 11 Fiber 42 | 1 |
11056-11065:15851-15860 | -4794 | D, 9/9 | 11057-11065/15851-15859 | Subject 11 Fiber 43 | 1 |
10977-10984:15536-15543 | -4558 | D, 7/7 | 10978-10984/15536-15542 | Subject 11 Fiber 44 | 1 |
10936-10940:15542-15546 | -4605 | D, 4/4 | 10937-10940/15542-15545 | Subject 11 Fiber 45 | 1 |
5789:16075 | -10285 | NR | . | Subject 11 Fiber 46 | 1 |
5785:16072 | -10286 | NR | . | Subject 11 Fiber 47 | 1 |
7098:16072 | -8973 | NR | . | Subject 11 Fiber 48 | 1 |