Mitochondrial Disease Variant Submission
Note:fields marked with
*
are required!!
I. Submit a New Variant:
in
GRCh37/hg19
HGVS
VCF
format
*Steps: Input a variant, then: press "1. Annotate", "2. Auto Fill Form" button, then fill out the form below, and press "3. Save to MSeqDR". We recommend running
HGVS format check
for submission.
** This tool captures ClinVar style variant annotations according to ClinVar submission template (version 4.2, 2018.08.21). Mouse-over text boxes to view full ClinVar submission instructions.
II. Interpret a Saved Variant
:
Choose one saved variant to edit:
1. guest 2023-03-17 00:36:04 000000002325687 Study
2. guest 2019-12-09 19:56:46 000000002325660 Study 1049
3. guest 2019-09-05 08:42:31 m.14459G>A NC_012920.1:m.14459G>A 000000002325264 0000001492 Study 1049 dbsnp:rs199476105 ENSG00000198695 MT-ND6
4. In_progress guest 2024-02-14 14:24:48 MT:g.10398A>G NC_012920.1:m.10398A>G 000000002325688 0000001458 Study 1049 dbsnp:rs2853826 ENSG00000198840 MT-ND3
5. In_progress guest 2022-09-13 21:10:03 MT:g.5494T>G NC_012920.1:m.5494T>G 000000002325686 Study 1049 dbsnp: ENSG00000198763 MT-ND2
6. In_progress guest 2019-12-02 03:38:25 m.6797C>T HGVS 000000002325659 Study 1048 dbsnp: ENSG00000198804 MT-CO1
7. In_progress guest 2019-12-02 03:38:22 m.6794A>G HGVS 000000002325658 Study 1048 dbsnp: ENSG00000198804 MT-CO1
8. In_progress guest 2019-12-02 03:38:19 m.6791A>G HGVS 000000002325657 Study 1048 dbsnp: ENSG00000198804 MT-CO1
9. In_progress guest 2019-12-02 03:38:17 m.6782T>C HGVS 000000002325656 Study 1048 dbsnp: ENSG00000198804 MT-CO1
10. In_progress guest 2019-12-02 03:38:14 m.6773C>T HGVS 000000002325655 Study 1048 dbsnp: ENSG00000198804 MT-CO1
11. In_progress guest 2019-12-02 03:38:11 m.6770A>C HGVS 000000002325654 Study 1048 dbsnp: ENSG00000198804 MT-CO1
12. In_progress guest 2019-12-02 03:38:08 m.6764G>A HGVS 000000002325653 Study 1048 dbsnp: ENSG00000198804 MT-CO1
13. In_progress guest 2019-12-02 03:38:05 m.6761C>T HGVS 000000002325652 Study 1048 dbsnp: ENSG00000198804 MT-CO1
14. In_progress guest 2019-12-02 03:38:02 m.6734G>A HGVS 000000002325651 0000023118 Study 1048 dbsnp:rs41413745 ENSG00000198804 MT-CO1
15. In_progress guest 2019-12-02 03:37:59 m.6728A>G HGVS 000000002325650 Study 1048 dbsnp: ENSG00000198804 MT-CO1
16. In_progress guest 2019-12-02 03:37:56 m.6713C>T HGVS 000000002325649 Study 1048 dbsnp: ENSG00000198804 MT-CO1
17. In_progress guest 2019-12-02 03:37:53 m.6710A>G HGVS 000000002325648 Study 1048 dbsnp: ENSG00000198804 MT-CO1
18. In_progress guest 2019-12-02 03:37:51 m.6707T>C HGVS 000000002325647 Study 1048 dbsnp: ENSG00000198804 MT-CO1
19. In_progress guest 2019-12-02 03:37:48 m.6695A>G HGVS 000000002325646 Study 1048 dbsnp: ENSG00000198804 MT-CO1
20. In_progress guest 2019-12-02 03:37:45 m.6683C>T HGVS 000000002325645 Study 1048 dbsnp: ENSG00000198804 MT-CO1
21. In_progress guest 2019-12-02 03:37:42 m.6665C>T HGVS 000000002325644 Study 1048 dbsnp: ENSG00000198804 MT-CO1
22. In_progress guest 2019-12-02 03:37:39 m.6366G>A HGVS 000000002325643 Study 1048 dbsnp:rs370673798 ENSG00000198804 MT-CO1
23. In_progress guest 2019-12-02 03:37:36 m.6299A>G HGVS 000000002325642 0000023110 Study 1048 dbsnp: ENSG00000198804 MT-CO1
24. In_progress guest 2019-12-02 03:37:34 m.6266A>C HGVS 000000002325641 Study 1048 dbsnp: ENSG00000198804 MT-CO1
25. In_progress guest 2019-12-02 03:37:31 m.6143C>T HGVS 000000002325640 Study 1048 dbsnp: ENSG00000198804 MT-CO1
26. In_progress guest 2019-12-02 03:37:28 m.5840C>T HGVS 000000002325639 Study 1048 dbsnp: ENSG00000210144 MT-TY
27. In_progress guest 2019-12-02 03:37:25 m.5821G>A HGVS 000000002325638 0000004679 Study 1048 dbsnp:rs200587831 ENSG00000210140 MT-TC
28. In_progress guest 2019-12-02 03:37:22 m.4769A>G HGVS 000000002325637 0000004590 Study 1048 dbsnp:rs3021086 ENSG00000198763 MT-ND2
29. In_progress guest 2019-12-02 03:37:19 m.4736T>C HGVS 000000002325636 Study 1048 dbsnp: ENSG00000198763 MT-ND2
30. In_progress guest 2019-12-02 03:37:16 m.4466A>C HGVS 000000002325635 Study 1048 dbsnp: ENSG00000210112 MT-TM
31. In_progress guest 2019-12-02 03:37:13 m.4464G>A HGVS 000000002325634 Study 1048 dbsnp: ENSG00000210112 MT-TM
32. In_progress guest 2019-12-02 03:37:10 m.4463C>T HGVS 000000002325633 Study 1048 dbsnp: ENSG00000210112 MT-TM
33. In_progress guest 2019-12-02 03:37:07 m.4456C>T HGVS 000000002325632 0000004577 Study 1048 dbsnp: ENSG00000210112 MT-TM
34. In_progress guest 2019-12-02 03:37:05 m.4454T>C HGVS 000000002325631 0000004576 Study 1048 dbsnp:rs386828942 ENSG00000210112 MT-TM
35. In_progress guest 2019-12-02 03:37:02 m.4440G>A HGVS 000000002325630 0000014639 Study 1048 dbsnp: ENSG00000210112 MT-TM
36. In_progress guest 2019-12-02 03:36:59 m.4436C>T HGVS 000000002325629 Study 1048 dbsnp: ENSG00000210112 MT-TM
37. In_progress guest 2019-12-02 03:36:56 m.4427G>A HGVS 000000002325628 Study 1048 dbsnp: ENSG00000210112 MT-TM
38. In_progress guest 2019-12-02 03:36:53 m.4426C>T HGVS 000000002325627 Study 1048 dbsnp: ENSG00000210112 MT-TM
39. In_progress guest 2019-12-02 03:36:50 m.4402A>G HGVS 000000002325626 Study 1048 dbsnp: ENSG00000210112 MT-TM
40. In_progress guest 2019-12-02 03:36:48 m.4401A>G HGVS 000000002325625 0000004569 Study 1048 dbsnp: ENSG00000210156 MT-TK
41. In_progress guest 2019-12-02 03:36:45 m.4395A>G HGVS 000000002325624 0000004568 Study 1048 dbsnp: ENSG00000210107 MT-TQ
42. In_progress guest 2019-12-02 03:36:43 m.4394C>T HGVS 000000002325623 Study 1048 dbsnp: ENSG00000210107 MT-TQ
43. In_progress guest 2019-12-02 03:36:40 m.4393C>A HGVS 000000002325622 Study 1048 dbsnp: ENSG00000210107 MT-TQ
44. In_progress guest 2019-12-02 03:36:37 m.4387C>T HGVS 000000002325621 Study 1048 dbsnp:rs386828941 ENSG00000210107 MT-TQ
45. In_progress guest 2019-12-02 03:36:34 m.4380C>T HGVS 000000002325620 Study 1048 dbsnp: ENSG00000210107 MT-TQ
46. In_progress guest 2019-12-02 03:36:30 m.4376G>A HGVS 000000002325619 Study 1048 dbsnp: ENSG00000210107 MT-TQ
47. In_progress guest 2019-12-02 03:36:27 m.4373T>C HGVS 000000002325618 0000004563 Study 1048 dbsnp: ENSG00000210107 MT-TQ
48. In_progress guest 2019-12-02 03:36:24 m.4351C>T HGVS 000000002325617 Study 1048 dbsnp: ENSG00000210107 MT-TQ
49. In_progress guest 2019-12-02 03:36:21 m.4345C>T HGVS 000000002325616 0000004557 Study 1048 dbsnp: ENSG00000210107 MT-TQ
50. In_progress guest 2019-12-02 03:36:18 m.3107N>T HGVS 000000002325615 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
51. In_progress guest 2019-12-02 03:36:15 m.3079G>A HGVS 000000002325614 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
52. In_progress guest 2019-12-02 03:36:12 m.3060C>T HGVS 000000002325613 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
53. In_progress guest 2019-12-02 03:36:09 m.3046C>T HGVS 000000002325612 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
54. In_progress guest 2019-12-02 03:36:06 m.3042T>C HGVS 000000002325611 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
55. In_progress guest 2019-12-02 03:36:02 m.3036G>A HGVS 000000002325610 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
56. In_progress guest 2019-12-02 03:35:59 m.3030A>G HGVS 000000002325609 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
57. In_progress guest 2019-12-02 03:35:56 m.3027T>C HGVS 000000002325608 0000004386 Study 1048 dbsnp:rs199838004 ENSG00000210082 MT-RNR2
58. In_progress guest 2019-12-02 03:35:54 m.3025A>G HGVS 000000002325607 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
59. In_progress guest 2019-12-02 03:35:51 m.3021C>T HGVS 000000002325606 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
60. In_progress guest 2019-12-02 03:35:48 m.3017C>T HGVS 000000002325605 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
61. In_progress guest 2019-12-02 03:35:44 m.3010G>A HGVS 000000002325604 0000004384 Study 1048 dbsnp:rs3928306 ENSG00000210082 MT-RNR2
62. In_progress guest 2019-12-02 03:35:41 m.3009C>T HGVS 000000002325603 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
63. In_progress guest 2019-12-02 03:35:38 m.2983G>A HGVS 000000002325602 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
64. In_progress guest 2019-12-02 03:35:35 m.2976G>A HGVS 000000002325601 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
65. In_progress guest 2019-12-02 03:35:32 m.2968A>G HGVS 000000002325600 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
66. In_progress guest 2019-12-02 03:35:29 m.2967C>T HGVS 000000002325599 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
67. In_progress guest 2019-12-02 03:35:26 m.2943G>A HGVS 000000002325598 0000014544 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
68. In_progress guest 2019-12-02 03:35:23 m.2911C>T HGVS 000000002325597 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
69. In_progress guest 2019-12-02 03:35:19 m.2906C>T HGVS 000000002325596 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
70. In_progress guest 2019-12-02 03:35:16 m.2898T>C HGVS 000000002325595 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
71. In_progress guest 2019-12-02 03:35:12 m.2667T>C HGVS 000000002325594 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
72. In_progress guest 2019-12-02 03:35:10 m.2625C>T HGVS 000000002325593 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
73. In_progress guest 2019-12-02 03:35:07 m.2613T>C HGVS 000000002325592 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
74. In_progress guest 2019-12-02 03:35:04 m.2581A>G HGVS 000000002325591 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
75. In_progress guest 2019-12-02 03:35:01 m.2577C>T HGVS 000000002325590 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
76. In_progress guest 2019-12-02 03:34:59 m.2566C>T HGVS 000000002325589 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
77. In_progress guest 2019-12-02 03:34:55 m.2563T>C HGVS 000000002325588 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
78. In_progress guest 2019-12-02 03:34:53 m.2557C>T HGVS 000000002325587 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
79. In_progress guest 2019-12-02 03:34:50 m.2541C>T HGVS 000000002325586 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
80. In_progress guest 2019-12-02 03:34:47 m.2523C>T HGVS 000000002325585 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
81. In_progress guest 2019-12-02 03:34:43 m.2445T>C HGVS 000000002325584 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
82. In_progress guest 2019-12-02 03:34:40 m.2442T>C HGVS 000000002325583 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
83. In_progress guest 2019-12-02 03:34:37 m.2423C>T HGVS 000000002325582 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
84. In_progress guest 2019-12-02 03:34:33 m.2404T>C HGVS 000000002325581 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
85. In_progress guest 2019-12-02 03:34:30 m.2101C>T HGVS 000000002325580 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
86. In_progress guest 2019-12-02 03:34:27 m.2080T>C HGVS 000000002325579 0000004320 Study 1048 dbsnp:rs200040509 ENSG00000210082 MT-RNR2
87. In_progress guest 2019-12-02 03:34:24 m.2071T>C HGVS 000000002325578 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
88. In_progress guest 2019-12-02 03:34:21 m.2059C>T HGVS 000000002325577 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
89. In_progress guest 2019-12-02 03:34:19 m.2056G>A HGVS 000000002325576 0000004318 Study 1048 dbsnp:rs202087883 ENSG00000210082 MT-RNR2
90. In_progress guest 2019-12-02 03:34:16 m.2053T>C HGVS 000000002325575 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
91. In_progress guest 2019-12-02 03:34:12 m.2030T>C HGVS 000000002325574 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
92. In_progress guest 2019-12-02 03:34:10 m.2005C>T HGVS 000000002325573 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
93. In_progress guest 2019-12-02 03:34:07 m.1978A>G HGVS 000000002325572 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
94. In_progress guest 2019-12-02 03:34:04 m.1977T>C HGVS 000000002325571 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
95. In_progress guest 2019-12-02 03:34:01 m.1900A>G HGVS 000000002325570 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
96. In_progress guest 2019-12-02 03:33:58 m.1888G>A HGVS 000000002325569 0000004307 Study 1048 dbsnp:rs28358577 ENSG00000210082 MT-RNR2
97. In_progress guest 2019-12-02 03:33:55 m.1883G>A HGVS 000000002325568 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
98. In_progress guest 2019-12-02 03:33:52 m.1842A>G HGVS 000000002325567 0000004305 Study 1048 dbsnp:rs200029818 ENSG00000210082 MT-RNR2
99. In_progress guest 2019-12-02 03:33:49 m.1824T>C HGVS 000000002325566 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
100. In_progress guest 2019-12-02 03:33:46 m.1761A>T HGVS 000000002325565 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
101. In_progress guest 2019-12-02 03:33:43 m.1719G>A HGVS 000000002325564 0000004292 Study 1048 dbsnp:rs3928305 ENSG00000210082 MT-RNR2
102. In_progress guest 2019-12-02 03:33:40 m.1709G>A HGVS 000000002325563 0000004289 Study 1048 dbsnp:rs200251800 ENSG00000210082 MT-RNR2
103. In_progress guest 2019-12-02 03:33:38 m.1693C>T HGVS 000000002325562 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
104. In_progress guest 2019-12-02 03:33:35 m.1673T>C HGVS 000000002325561 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
105. In_progress guest 2019-12-02 03:33:33 m.1664G>A HGVS 000000002325560 0000004282 Study 1048 dbsnp:rs200807305 ENSG00000210077 MT-TV
106. In_progress guest 2019-12-02 03:33:30 m.1654T>C HGVS 000000002325559 Study 1048 dbsnp: ENSG00000210077 MT-TV
107. In_progress guest 2019-12-02 03:33:27 m.1619C>T HGVS 000000002325558 Study 1048 dbsnp: ENSG00000210077 MT-TV
108. In_progress guest 2019-12-02 03:33:24 m.1556C>T HGVS 000000002325557 0000004154 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
109. In_progress guest 2019-12-02 03:33:21 m.1520T>C HGVS 000000002325556 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
110. In_progress guest 2019-12-02 03:33:18 m.1405C>T HGVS 000000002325555 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
111. In_progress guest 2019-12-02 03:33:15 m.1393G>A HGVS 000000002325554 0000001315 Study 1048 dbsnp:rs111033325 ENSG00000211459 MT-RNR1
112. In_progress guest 2019-12-02 03:33:11 m.1377C>T HGVS 000000002325553 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
113. In_progress guest 2019-12-02 03:33:09 m.1376C>T HGVS 000000002325552 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
114. In_progress guest 2019-12-02 03:33:06 m.1292A>G HGVS 000000002325551 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
115. In_progress guest 2019-12-02 03:33:03 m.1249T>C HGVS 000000002325550 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
116. In_progress guest 2019-12-02 03:33:00 m.1231A>T HGVS 000000002325549 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
117. In_progress guest 2019-12-02 03:32:57 m.1230C>T HGVS 000000002325548 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
118. In_progress guest 2019-12-02 03:32:54 m.1227G>A HGVS 000000002325547 0000014416 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
119. In_progress guest 2019-12-02 03:32:51 m.1211G>A HGVS 000000002325546 0000001308 Study 1048 dbsnp:rs397515725 ENSG00000211459 MT-RNR1
120. In_progress guest 2019-12-02 03:32:48 m.1185C>T HGVS 000000002325545 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
121. In_progress guest 2019-12-02 03:32:45 m.1173C>T HGVS 000000002325544 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
122. In_progress guest 2019-12-02 03:32:42 m.1120C>T HGVS 000000002325543 0000005077 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
123. In_progress guest 2019-12-02 03:32:39 m.1009C>T HGVS 000000002325542 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
124. In_progress guest 2019-12-02 03:32:36 m.979C>T HGVS 000000002325541 0000022932 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
125. In_progress guest 2019-12-02 03:32:33 m.951G>A HGVS 000000002325540 0000001289 Study 1048 dbsnp:rs200887992 ENSG00000211459 MT-RNR1
126. In_progress guest 2019-12-02 03:32:30 m.930G>A HGVS 000000002325539 0000004984 Study 1048 dbsnp:rs41352944 ENSG00000211459 MT-RNR1
127. In_progress guest 2019-12-02 03:32:27 m.883T>G HGVS 000000002325538 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
128. In_progress guest 2019-12-02 03:32:24 m.877G>C HGVS 000000002325537 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
129. In_progress guest 2019-12-02 03:32:21 m.870C>T HGVS 000000002325536 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
130. In_progress guest 2019-12-02 03:32:18 m.825T>A HGVS 000000002325535 0000004870 Study 1048 dbsnp:rs2853520 ENSG00000211459 MT-RNR1
131. In_progress guest 2019-12-02 03:32:16 m.813A>G HGVS 000000002325534 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
132. In_progress guest 2019-12-02 03:32:13 m.756C>T HGVS 000000002325533 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
133. In_progress guest 2019-12-02 03:32:10 m.750A>G HGVS 000000002325532 0000004818 Study 1048 dbsnp:rs2853518 ENSG00000211459 MT-RNR1
134. In_progress guest 2019-12-02 03:32:05 m.263A>G HGVS 000000002325531 0000004360 Study 1048 dbsnp:rs386828869 ENSG00000211459 MT-RNR1
135. In_progress guest 2019-12-02 03:32:01 m.6797C>T HGVS 000000002325530 Study 1048 dbsnp: ENSG00000198804 MT-CO1
136. In_progress guest 2019-12-02 03:31:58 m.6794A>G HGVS 000000002325529 Study 1048 dbsnp: ENSG00000198804 MT-CO1
137. In_progress guest 2019-12-02 03:31:55 m.6791A>G HGVS 000000002325528 Study 1048 dbsnp: ENSG00000198804 MT-CO1
138. In_progress guest 2019-12-02 03:31:52 m.6782T>C HGVS 000000002325527 Study 1048 dbsnp: ENSG00000198804 MT-CO1
139. In_progress guest 2019-12-02 03:31:48 m.6773C>T HGVS 000000002325526 Study 1048 dbsnp: ENSG00000198804 MT-CO1
140. In_progress guest 2019-12-02 03:31:45 m.6770A>C HGVS 000000002325525 Study 1048 dbsnp: ENSG00000198804 MT-CO1
141. In_progress guest 2019-12-02 03:31:43 m.6764G>A HGVS 000000002325524 Study 1048 dbsnp: ENSG00000198804 MT-CO1
142. In_progress guest 2019-12-02 03:31:40 m.6761C>T HGVS 000000002325523 Study 1048 dbsnp: ENSG00000198804 MT-CO1
143. In_progress guest 2019-12-02 03:31:37 m.6734G>A HGVS 000000002325522 0000023118 Study 1048 dbsnp:rs41413745 ENSG00000198804 MT-CO1
144. In_progress guest 2019-12-02 03:31:34 m.6728A>G HGVS 000000002325521 Study 1048 dbsnp: ENSG00000198804 MT-CO1
145. In_progress guest 2019-12-02 03:31:31 m.6713C>T HGVS 000000002325520 Study 1048 dbsnp: ENSG00000198804 MT-CO1
146. In_progress guest 2019-12-02 03:31:28 m.6710A>G HGVS 000000002325519 Study 1048 dbsnp: ENSG00000198804 MT-CO1
147. In_progress guest 2019-12-02 03:31:25 m.6707T>C HGVS 000000002325518 Study 1048 dbsnp: ENSG00000198804 MT-CO1
148. In_progress guest 2019-12-02 03:31:22 m.6695A>G HGVS 000000002325517 Study 1048 dbsnp: ENSG00000198804 MT-CO1
149. In_progress guest 2019-12-02 03:31:19 m.6683C>T HGVS 000000002325516 Study 1048 dbsnp: ENSG00000198804 MT-CO1
150. In_progress guest 2019-12-02 03:31:16 m.6665C>T HGVS 000000002325515 Study 1048 dbsnp: ENSG00000198804 MT-CO1
151. In_progress guest 2019-12-02 03:31:14 m.6366G>A HGVS 000000002325514 Study 1048 dbsnp:rs370673798 ENSG00000198804 MT-CO1
152. In_progress guest 2019-12-02 03:31:11 m.6299A>G HGVS 000000002325513 0000023110 Study 1048 dbsnp: ENSG00000198804 MT-CO1
153. In_progress guest 2019-12-02 03:31:08 m.6266A>C HGVS 000000002325512 Study 1048 dbsnp: ENSG00000198804 MT-CO1
154. In_progress guest 2019-12-02 03:31:06 m.6143C>T HGVS 000000002325511 Study 1048 dbsnp: ENSG00000198804 MT-CO1
155. In_progress guest 2019-12-02 03:31:02 m.5840C>T HGVS 000000002325510 Study 1048 dbsnp: ENSG00000210144 MT-TY
156. In_progress guest 2019-12-02 03:30:59 m.5821G>A HGVS 000000002325509 0000004679 Study 1048 dbsnp:rs200587831 ENSG00000210140 MT-TC
157. In_progress guest 2019-12-02 03:30:56 m.4769A>G HGVS 000000002325508 0000004590 Study 1048 dbsnp:rs3021086 ENSG00000198763 MT-ND2
158. In_progress guest 2019-12-02 03:30:53 m.4736T>C HGVS 000000002325507 Study 1048 dbsnp: ENSG00000198763 MT-ND2
159. In_progress guest 2019-12-02 03:30:49 m.4466A>C HGVS 000000002325506 Study 1048 dbsnp: ENSG00000210112 MT-TM
160. In_progress guest 2019-12-02 03:30:46 m.4464G>A HGVS 000000002325505 Study 1048 dbsnp: ENSG00000210112 MT-TM
161. In_progress guest 2019-12-02 03:30:43 m.4463C>T HGVS 000000002325504 Study 1048 dbsnp: ENSG00000210112 MT-TM
162. In_progress guest 2019-12-02 03:30:40 m.4456C>T HGVS 000000002325503 0000004577 Study 1048 dbsnp: ENSG00000210112 MT-TM
163. In_progress guest 2019-12-02 03:30:37 m.4454T>C HGVS 000000002325502 0000004576 Study 1048 dbsnp:rs386828942 ENSG00000210112 MT-TM
164. In_progress guest 2019-12-02 03:30:33 m.4440G>A HGVS 000000002325501 0000014639 Study 1048 dbsnp: ENSG00000210112 MT-TM
165. In_progress guest 2019-12-02 03:30:30 m.4436C>T HGVS 000000002325500 Study 1048 dbsnp: ENSG00000210112 MT-TM
166. In_progress guest 2019-12-02 03:30:27 m.4427G>A HGVS 000000002325499 Study 1048 dbsnp: ENSG00000210112 MT-TM
167. In_progress guest 2019-12-02 03:30:24 m.4426C>T HGVS 000000002325498 Study 1048 dbsnp: ENSG00000210112 MT-TM
168. In_progress guest 2019-12-02 03:30:22 m.4402A>G HGVS 000000002325497 Study 1048 dbsnp: ENSG00000210112 MT-TM
169. In_progress guest 2019-12-02 03:30:19 m.4401A>G HGVS 000000002325496 0000004569 Study 1048 dbsnp: ENSG00000210156 MT-TK
170. In_progress guest 2019-12-02 03:30:16 m.4395A>G HGVS 000000002325495 0000004568 Study 1048 dbsnp: ENSG00000210107 MT-TQ
171. In_progress guest 2019-12-02 03:30:13 m.4394C>T HGVS 000000002325494 Study 1048 dbsnp: ENSG00000210107 MT-TQ
172. In_progress guest 2019-12-02 03:30:10 m.4393C>A HGVS 000000002325493 Study 1048 dbsnp: ENSG00000210107 MT-TQ
173. In_progress guest 2019-12-02 03:30:07 m.4387C>T HGVS 000000002325492 Study 1048 dbsnp:rs386828941 ENSG00000210107 MT-TQ
174. In_progress guest 2019-12-02 03:30:05 m.4380C>T HGVS 000000002325491 Study 1048 dbsnp: ENSG00000210107 MT-TQ
175. In_progress guest 2019-12-02 03:30:01 m.4376G>A HGVS 000000002325490 Study 1048 dbsnp: ENSG00000210107 MT-TQ
176. In_progress guest 2019-12-02 03:29:58 m.4373T>C HGVS 000000002325489 0000004563 Study 1048 dbsnp: ENSG00000210107 MT-TQ
177. In_progress guest 2019-12-02 03:29:56 m.4351C>T HGVS 000000002325488 Study 1048 dbsnp: ENSG00000210107 MT-TQ
178. In_progress guest 2019-12-02 03:29:52 m.4345C>T HGVS 000000002325487 0000004557 Study 1048 dbsnp: ENSG00000210107 MT-TQ
179. In_progress guest 2019-12-02 03:29:50 m.3107N>T HGVS 000000002325486 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
180. In_progress guest 2019-12-02 03:29:47 m.3079G>A HGVS 000000002325485 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
181. In_progress guest 2019-12-02 03:29:44 m.3060C>T HGVS 000000002325484 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
182. In_progress guest 2019-12-02 03:29:42 m.3046C>T HGVS 000000002325483 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
183. In_progress guest 2019-12-02 03:29:39 m.3042T>C HGVS 000000002325482 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
184. In_progress guest 2019-12-02 03:29:36 m.3036G>A HGVS 000000002325481 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
185. In_progress guest 2019-12-02 03:29:34 m.3030A>G HGVS 000000002325480 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
186. In_progress guest 2019-12-02 03:29:31 m.3027T>C HGVS 000000002325479 0000004386 Study 1048 dbsnp:rs199838004 ENSG00000210082 MT-RNR2
187. In_progress guest 2019-12-02 03:29:28 m.3025A>G HGVS 000000002325478 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
188. In_progress guest 2019-12-02 03:29:26 m.3021C>T HGVS 000000002325477 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
189. In_progress guest 2019-12-02 03:29:23 m.3017C>T HGVS 000000002325476 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
190. In_progress guest 2019-12-02 03:29:20 m.3010G>A HGVS 000000002325475 0000004384 Study 1048 dbsnp:rs3928306 ENSG00000210082 MT-RNR2
191. In_progress guest 2019-12-02 03:29:17 m.3009C>T HGVS 000000002325474 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
192. In_progress guest 2019-12-02 03:29:15 m.2983G>A HGVS 000000002325473 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
193. In_progress guest 2019-12-02 03:29:12 m.2976G>A HGVS 000000002325472 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
194. In_progress guest 2019-12-02 03:29:10 m.2968A>G HGVS 000000002325471 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
195. In_progress guest 2019-12-02 03:29:07 m.2967C>T HGVS 000000002325470 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
196. In_progress guest 2019-12-02 03:29:04 m.2943G>A HGVS 000000002325469 0000014544 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
197. In_progress guest 2019-12-02 03:29:01 m.2911C>T HGVS 000000002325468 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
198. In_progress guest 2019-12-02 03:28:59 m.2906C>T HGVS 000000002325467 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
199. In_progress guest 2019-12-02 03:28:56 m.2898T>C HGVS 000000002325466 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
200. In_progress guest 2019-12-02 03:28:53 m.2667T>C HGVS 000000002325465 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
201. In_progress guest 2019-12-02 03:28:51 m.2625C>T HGVS 000000002325464 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
202. In_progress guest 2019-12-02 03:28:47 m.2613T>C HGVS 000000002325463 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
203. In_progress guest 2019-12-02 03:28:44 m.2581A>G HGVS 000000002325462 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
204. In_progress guest 2019-12-02 03:28:42 m.2577C>T HGVS 000000002325461 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
205. In_progress guest 2019-12-02 03:28:39 m.2566C>T HGVS 000000002325460 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
206. In_progress guest 2019-12-02 03:28:36 m.2563T>C HGVS 000000002325459 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
207. In_progress guest 2019-12-02 03:28:34 m.2557C>T HGVS 000000002325458 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
208. In_progress guest 2019-12-02 03:28:31 m.2541C>T HGVS 000000002325457 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
209. In_progress guest 2019-12-02 03:28:28 m.2523C>T HGVS 000000002325456 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
210. In_progress guest 2019-12-02 03:28:26 m.2445T>C HGVS 000000002325455 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
211. In_progress guest 2019-12-02 03:28:23 m.2442T>C HGVS 000000002325454 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
212. In_progress guest 2019-12-02 03:28:20 m.2423C>T HGVS 000000002325453 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
213. In_progress guest 2019-12-02 03:28:18 m.2404T>C HGVS 000000002325452 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
214. In_progress guest 2019-12-02 03:28:15 m.2101C>T HGVS 000000002325451 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
215. In_progress guest 2019-12-02 03:28:12 m.2080T>C HGVS 000000002325450 0000004320 Study 1048 dbsnp:rs200040509 ENSG00000210082 MT-RNR2
216. In_progress guest 2019-12-02 03:28:10 m.2071T>C HGVS 000000002325449 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
217. In_progress guest 2019-12-02 03:28:07 m.2059C>T HGVS 000000002325448 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
218. In_progress guest 2019-12-02 03:28:05 m.2056G>A HGVS 000000002325447 0000004318 Study 1048 dbsnp:rs202087883 ENSG00000210082 MT-RNR2
219. In_progress guest 2019-12-02 03:28:02 m.2053T>C HGVS 000000002325446 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
220. In_progress guest 2019-12-02 03:27:59 m.2030T>C HGVS 000000002325445 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
221. In_progress guest 2019-12-02 03:27:57 m.2005C>T HGVS 000000002325444 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
222. In_progress guest 2019-12-02 03:27:54 m.1978A>G HGVS 000000002325443 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
223. In_progress guest 2019-12-02 03:27:51 m.1977T>C HGVS 000000002325442 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
224. In_progress guest 2019-12-02 03:27:49 m.1900A>G HGVS 000000002325441 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
225. In_progress guest 2019-12-02 03:27:46 m.1888G>A HGVS 000000002325440 0000004307 Study 1048 dbsnp:rs28358577 ENSG00000210082 MT-RNR2
226. In_progress guest 2019-12-02 03:27:44 m.1883G>A HGVS 000000002325439 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
227. In_progress guest 2019-12-02 03:27:41 m.1842A>G HGVS 000000002325438 0000004305 Study 1048 dbsnp:rs200029818 ENSG00000210082 MT-RNR2
228. In_progress guest 2019-12-02 03:27:38 m.1824T>C HGVS 000000002325437 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
229. In_progress guest 2019-12-02 03:27:35 m.1761A>T HGVS 000000002325436 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
230. In_progress guest 2019-12-02 03:27:33 m.1719G>A HGVS 000000002325435 0000004292 Study 1048 dbsnp:rs3928305 ENSG00000210082 MT-RNR2
231. In_progress guest 2019-12-02 03:27:30 m.1709G>A HGVS 000000002325434 0000004289 Study 1048 dbsnp:rs200251800 ENSG00000210082 MT-RNR2
232. In_progress guest 2019-12-02 03:27:27 m.1693C>T HGVS 000000002325433 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
233. In_progress guest 2019-12-02 03:27:25 m.1673T>C HGVS 000000002325432 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
234. In_progress guest 2019-12-02 03:27:22 m.1664G>A HGVS 000000002325431 0000004282 Study 1048 dbsnp:rs200807305 ENSG00000210077 MT-TV
235. In_progress guest 2019-12-02 03:27:19 m.1654T>C HGVS 000000002325430 Study 1048 dbsnp: ENSG00000210077 MT-TV
236. In_progress guest 2019-12-02 03:27:17 m.1619C>T HGVS 000000002325429 Study 1048 dbsnp: ENSG00000210077 MT-TV
237. In_progress guest 2019-12-02 03:27:14 m.1556C>T HGVS 000000002325428 0000004154 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
238. In_progress guest 2019-12-02 03:27:11 m.1520T>C HGVS 000000002325427 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
239. In_progress guest 2019-12-02 03:27:09 m.1405C>T HGVS 000000002325426 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
240. In_progress guest 2019-12-02 03:27:06 m.1393G>A HGVS 000000002325425 0000001315 Study 1048 dbsnp:rs111033325 ENSG00000211459 MT-RNR1
241. In_progress guest 2019-12-02 03:27:03 m.1377C>T HGVS 000000002325424 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
242. In_progress guest 2019-12-02 03:27:01 m.1376C>T HGVS 000000002325423 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
243. In_progress guest 2019-12-02 03:26:58 m.1292A>G HGVS 000000002325422 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
244. In_progress guest 2019-12-02 03:26:55 m.1249T>C HGVS 000000002325421 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
245. In_progress guest 2019-12-02 03:26:53 m.1231A>T HGVS 000000002325420 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
246. In_progress guest 2019-12-02 03:26:50 m.1230C>T HGVS 000000002325419 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
247. In_progress guest 2019-12-02 03:26:47 m.1227G>A HGVS 000000002325418 0000014416 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
248. In_progress guest 2019-12-02 03:26:45 m.1211G>A HGVS 000000002325417 0000001308 Study 1048 dbsnp:rs397515725 ENSG00000211459 MT-RNR1
249. In_progress guest 2019-12-02 03:26:42 m.1185C>T HGVS 000000002325416 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
250. In_progress guest 2019-12-02 03:26:39 m.1173C>T HGVS 000000002325415 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
251. In_progress guest 2019-12-02 03:26:37 m.1120C>T HGVS 000000002325414 0000005077 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
252. In_progress guest 2019-12-02 03:26:34 m.1009C>T HGVS 000000002325413 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
253. In_progress guest 2019-12-02 03:26:32 m.979C>T HGVS 000000002325412 0000022932 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
254. In_progress guest 2019-12-02 03:26:29 m.951G>A HGVS 000000002325411 0000001289 Study 1048 dbsnp:rs200887992 ENSG00000211459 MT-RNR1
255. In_progress guest 2019-12-02 03:26:26 m.930G>A HGVS 000000002325410 0000004984 Study 1048 dbsnp:rs41352944 ENSG00000211459 MT-RNR1
256. In_progress guest 2019-12-02 03:26:24 m.883T>G HGVS 000000002325409 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
257. In_progress guest 2019-12-02 03:26:21 m.877G>C HGVS 000000002325408 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
258. In_progress guest 2019-12-02 03:26:18 m.870C>T HGVS 000000002325407 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
259. In_progress guest 2019-12-02 03:26:15 m.825T>A HGVS 000000002325406 0000004870 Study 1048 dbsnp:rs2853520 ENSG00000211459 MT-RNR1
260. In_progress guest 2019-12-02 03:26:12 m.813A>G HGVS 000000002325405 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
261. In_progress guest 2019-12-02 03:26:10 m.756C>T HGVS 000000002325404 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
262. In_progress guest 2019-12-02 03:26:07 m.750A>G HGVS 000000002325403 0000004818 Study 1048 dbsnp:rs2853518 ENSG00000211459 MT-RNR1
263. In_progress guest 2019-12-02 03:26:03 m.263A>G HGVS 000000002325402 0000004360 Study 1048 dbsnp:rs386828869 ENSG00000211459 MT-RNR1
264. In_progress guest 2019-12-02 03:25:59 m.6797C>T HGVS 000000002325401 Study 1048 dbsnp: ENSG00000198804 MT-CO1
265. In_progress guest 2019-12-02 03:25:56 m.6794A>G HGVS 000000002325400 Study 1048 dbsnp: ENSG00000198804 MT-CO1
266. In_progress guest 2019-12-02 03:25:54 m.6791A>G HGVS 000000002325399 Study 1048 dbsnp: ENSG00000198804 MT-CO1
267. In_progress guest 2019-12-02 03:25:51 m.6782T>C HGVS 000000002325398 Study 1048 dbsnp: ENSG00000198804 MT-CO1
268. In_progress guest 2019-12-02 03:25:48 m.6773C>T HGVS 000000002325397 Study 1048 dbsnp: ENSG00000198804 MT-CO1
269. In_progress guest 2019-12-02 03:25:46 m.6770A>C HGVS 000000002325396 Study 1048 dbsnp: ENSG00000198804 MT-CO1
270. In_progress guest 2019-12-02 03:25:43 m.6764G>A HGVS 000000002325395 Study 1048 dbsnp: ENSG00000198804 MT-CO1
271. In_progress guest 2019-12-02 03:25:41 m.6761C>T HGVS 000000002325394 Study 1048 dbsnp: ENSG00000198804 MT-CO1
272. In_progress guest 2019-12-02 03:25:38 m.6734G>A HGVS 000000002325393 0000023118 Study 1048 dbsnp:rs41413745 ENSG00000198804 MT-CO1
273. In_progress guest 2019-12-02 03:25:35 m.6728A>G HGVS 000000002325392 Study 1048 dbsnp: ENSG00000198804 MT-CO1
274. In_progress guest 2019-12-02 03:25:33 m.6713C>T HGVS 000000002325391 Study 1048 dbsnp: ENSG00000198804 MT-CO1
275. In_progress guest 2019-12-02 03:25:30 m.6710A>G HGVS 000000002325390 Study 1048 dbsnp: ENSG00000198804 MT-CO1
276. In_progress guest 2019-12-02 03:25:27 m.6707T>C HGVS 000000002325389 Study 1048 dbsnp: ENSG00000198804 MT-CO1
277. In_progress guest 2019-12-02 03:25:24 m.6695A>G HGVS 000000002325388 Study 1048 dbsnp: ENSG00000198804 MT-CO1
278. In_progress guest 2019-12-02 03:25:21 m.6683C>T HGVS 000000002325387 Study 1048 dbsnp: ENSG00000198804 MT-CO1
279. In_progress guest 2019-12-02 03:25:18 m.6665C>T HGVS 000000002325386 Study 1048 dbsnp: ENSG00000198804 MT-CO1
280. In_progress guest 2019-12-02 03:25:16 m.6366G>A HGVS 000000002325385 Study 1048 dbsnp:rs370673798 ENSG00000198804 MT-CO1
281. In_progress guest 2019-12-02 03:25:13 m.6299A>G HGVS 000000002325384 0000023110 Study 1048 dbsnp: ENSG00000198804 MT-CO1
282. In_progress guest 2019-12-02 03:25:10 m.6266A>C HGVS 000000002325383 Study 1048 dbsnp: ENSG00000198804 MT-CO1
283. In_progress guest 2019-12-02 03:25:07 m.6143C>T HGVS 000000002325382 Study 1048 dbsnp: ENSG00000198804 MT-CO1
284. In_progress guest 2019-12-02 03:25:04 m.5840C>T HGVS 000000002325381 Study 1048 dbsnp: ENSG00000210144 MT-TY
285. In_progress guest 2019-12-02 03:25:02 m.5821G>A HGVS 000000002325380 0000004679 Study 1048 dbsnp:rs200587831 ENSG00000210140 MT-TC
286. In_progress guest 2019-12-02 03:24:59 m.4769A>G HGVS 000000002325379 0000004590 Study 1048 dbsnp:rs3021086 ENSG00000198763 MT-ND2
287. In_progress guest 2019-12-02 03:24:56 m.4736T>C HGVS 000000002325378 Study 1048 dbsnp: ENSG00000198763 MT-ND2
288. In_progress guest 2019-12-02 03:24:54 m.4466A>C HGVS 000000002325377 Study 1048 dbsnp: ENSG00000210112 MT-TM
289. In_progress guest 2019-12-02 03:24:51 m.4464G>A HGVS 000000002325376 Study 1048 dbsnp: ENSG00000210112 MT-TM
290. In_progress guest 2019-12-02 03:24:48 m.4463C>T HGVS 000000002325375 Study 1048 dbsnp: ENSG00000210112 MT-TM
291. In_progress guest 2019-12-02 03:24:46 m.4456C>T HGVS 000000002325374 0000004577 Study 1048 dbsnp: ENSG00000210112 MT-TM
292. In_progress guest 2019-12-02 03:24:43 m.4454T>C HGVS 000000002325373 0000004576 Study 1048 dbsnp:rs386828942 ENSG00000210112 MT-TM
293. In_progress guest 2019-12-02 03:24:40 m.4440G>A HGVS 000000002325372 0000014639 Study 1048 dbsnp: ENSG00000210112 MT-TM
294. In_progress guest 2019-12-02 03:24:37 m.4436C>T HGVS 000000002325371 Study 1048 dbsnp: ENSG00000210112 MT-TM
295. In_progress guest 2019-12-02 03:24:35 m.4427G>A HGVS 000000002325370 Study 1048 dbsnp: ENSG00000210112 MT-TM
296. In_progress guest 2019-12-02 03:24:32 m.4426C>T HGVS 000000002325369 Study 1048 dbsnp: ENSG00000210112 MT-TM
297. In_progress guest 2019-12-02 03:24:30 m.4402A>G HGVS 000000002325368 Study 1048 dbsnp: ENSG00000210112 MT-TM
298. In_progress guest 2019-12-02 03:24:27 m.4401A>G HGVS 000000002325367 0000004569 Study 1048 dbsnp: ENSG00000210156 MT-TK
299. In_progress guest 2019-12-02 03:24:24 m.4395A>G HGVS 000000002325366 0000004568 Study 1048 dbsnp: ENSG00000210107 MT-TQ
300. In_progress guest 2019-12-02 03:24:22 m.4394C>T HGVS 000000002325365 Study 1048 dbsnp: ENSG00000210107 MT-TQ
301. In_progress guest 2019-12-02 03:24:19 m.4393C>A HGVS 000000002325364 Study 1048 dbsnp: ENSG00000210107 MT-TQ
302. In_progress guest 2019-12-02 03:24:16 m.4387C>T HGVS 000000002325363 Study 1048 dbsnp:rs386828941 ENSG00000210107 MT-TQ
303. In_progress guest 2019-12-02 03:24:13 m.4380C>T HGVS 000000002325362 Study 1048 dbsnp: ENSG00000210107 MT-TQ
304. In_progress guest 2019-12-02 03:24:11 m.4376G>A HGVS 000000002325361 Study 1048 dbsnp: ENSG00000210107 MT-TQ
305. In_progress guest 2019-12-02 03:24:08 m.4373T>C HGVS 000000002325360 0000004563 Study 1048 dbsnp: ENSG00000210107 MT-TQ
306. In_progress guest 2019-12-02 03:24:05 m.4351C>T HGVS 000000002325359 Study 1048 dbsnp: ENSG00000210107 MT-TQ
307. In_progress guest 2019-12-02 03:24:03 m.4345C>T HGVS 000000002325358 0000004557 Study 1048 dbsnp: ENSG00000210107 MT-TQ
308. In_progress guest 2019-12-02 03:24:00 m.3107N>T HGVS 000000002325357 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
309. In_progress guest 2019-12-02 03:23:57 m.3079G>A HGVS 000000002325356 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
310. In_progress guest 2019-12-02 03:23:55 m.3060C>T HGVS 000000002325355 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
311. In_progress guest 2019-12-02 03:23:52 m.3046C>T HGVS 000000002325354 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
312. In_progress guest 2019-12-02 03:23:49 m.3042T>C HGVS 000000002325353 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
313. In_progress guest 2019-12-02 03:23:47 m.3036G>A HGVS 000000002325352 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
314. In_progress guest 2019-12-02 03:23:44 m.3030A>G HGVS 000000002325351 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
315. In_progress guest 2019-12-02 03:23:41 m.3027T>C HGVS 000000002325350 0000004386 Study 1048 dbsnp:rs199838004 ENSG00000210082 MT-RNR2
316. In_progress guest 2019-12-02 03:23:39 m.3025A>G HGVS 000000002325349 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
317. In_progress guest 2019-12-02 03:23:36 m.3021C>T HGVS 000000002325348 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
318. In_progress guest 2019-12-02 03:23:33 m.3017C>T HGVS 000000002325347 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
319. In_progress guest 2019-12-02 03:23:31 m.3010G>A HGVS 000000002325346 0000004384 Study 1048 dbsnp:rs3928306 ENSG00000210082 MT-RNR2
320. In_progress guest 2019-12-02 03:23:28 m.3009C>T HGVS 000000002325345 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
321. In_progress guest 2019-12-02 03:23:25 m.2983G>A HGVS 000000002325344 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
322. In_progress guest 2019-12-02 03:23:23 m.2976G>A HGVS 000000002325343 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
323. In_progress guest 2019-12-02 03:23:20 m.2968A>G HGVS 000000002325342 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
324. In_progress guest 2019-12-02 03:23:18 m.2967C>T HGVS 000000002325341 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
325. In_progress guest 2019-12-02 03:23:15 m.2943G>A HGVS 000000002325340 0000014544 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
326. In_progress guest 2019-12-02 03:23:12 m.2911C>T HGVS 000000002325339 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
327. In_progress guest 2019-12-02 03:23:09 m.2906C>T HGVS 000000002325338 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
328. In_progress guest 2019-12-02 03:23:07 m.2898T>C HGVS 000000002325337 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
329. In_progress guest 2019-12-02 03:23:04 m.2667T>C HGVS 000000002325336 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
330. In_progress guest 2019-12-02 03:23:01 m.2625C>T HGVS 000000002325335 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
331. In_progress guest 2019-12-02 03:22:59 m.2613T>C HGVS 000000002325334 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
332. In_progress guest 2019-12-02 03:22:56 m.2581A>G HGVS 000000002325333 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
333. In_progress guest 2019-12-02 03:22:53 m.2577C>T HGVS 000000002325332 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
334. In_progress guest 2019-12-02 03:22:51 m.2566C>T HGVS 000000002325331 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
335. In_progress guest 2019-12-02 03:22:48 m.2563T>C HGVS 000000002325330 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
336. In_progress guest 2019-12-02 03:22:46 m.2557C>T HGVS 000000002325329 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
337. In_progress guest 2019-12-02 03:22:43 m.2541C>T HGVS 000000002325328 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
338. In_progress guest 2019-12-02 03:22:40 m.2523C>T HGVS 000000002325327 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
339. In_progress guest 2019-12-02 03:22:38 m.2445T>C HGVS 000000002325326 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
340. In_progress guest 2019-12-02 03:22:35 m.2442T>C HGVS 000000002325325 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
341. In_progress guest 2019-12-02 03:22:32 m.2423C>T HGVS 000000002325324 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
342. In_progress guest 2019-12-02 03:22:29 m.2404T>C HGVS 000000002325323 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
343. In_progress guest 2019-12-02 03:22:27 m.2101C>T HGVS 000000002325322 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
344. In_progress guest 2019-12-02 03:22:24 m.2080T>C HGVS 000000002325321 0000004320 Study 1048 dbsnp:rs200040509 ENSG00000210082 MT-RNR2
345. In_progress guest 2019-12-02 03:22:22 m.2071T>C HGVS 000000002325320 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
346. In_progress guest 2019-12-02 03:22:19 m.2059C>T HGVS 000000002325319 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
347. In_progress guest 2019-12-02 03:22:16 m.2056G>A HGVS 000000002325318 0000004318 Study 1048 dbsnp:rs202087883 ENSG00000210082 MT-RNR2
348. In_progress guest 2019-12-02 03:22:14 m.2053T>C HGVS 000000002325317 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
349. In_progress guest 2019-12-02 03:22:11 m.2030T>C HGVS 000000002325316 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
350. In_progress guest 2019-12-02 03:22:08 m.2005C>T HGVS 000000002325315 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
351. In_progress guest 2019-12-02 03:22:06 m.1978A>G HGVS 000000002325314 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
352. In_progress guest 2019-12-02 03:22:03 m.1977T>C HGVS 000000002325313 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
353. In_progress guest 2019-12-02 03:22:00 m.1900A>G HGVS 000000002325312 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
354. In_progress guest 2019-12-02 03:21:57 m.1888G>A HGVS 000000002325311 0000004307 Study 1048 dbsnp:rs28358577 ENSG00000210082 MT-RNR2
355. In_progress guest 2019-12-02 03:21:55 m.1883G>A HGVS 000000002325310 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
356. In_progress guest 2019-12-02 03:21:52 m.1842A>G HGVS 000000002325309 0000004305 Study 1048 dbsnp:rs200029818 ENSG00000210082 MT-RNR2
357. In_progress guest 2019-12-02 03:21:49 m.1824T>C HGVS 000000002325308 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
358. In_progress guest 2019-12-02 03:21:47 m.1761A>T HGVS 000000002325307 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
359. In_progress guest 2019-12-02 03:21:44 m.1719G>A HGVS 000000002325306 0000004292 Study 1048 dbsnp:rs3928305 ENSG00000210082 MT-RNR2
360. In_progress guest 2019-12-02 03:21:41 m.1709G>A HGVS 000000002325305 0000004289 Study 1048 dbsnp:rs200251800 ENSG00000210082 MT-RNR2
361. In_progress guest 2019-12-02 03:21:39 m.1693C>T HGVS 000000002325304 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
362. In_progress guest 2019-12-02 03:21:36 m.1673T>C HGVS 000000002325303 Study 1048 dbsnp: ENSG00000210082 MT-RNR2
363. In_progress guest 2019-12-02 03:21:33 m.1664G>A HGVS 000000002325302 0000004282 Study 1048 dbsnp:rs200807305 ENSG00000210077 MT-TV
364. In_progress guest 2019-12-02 03:21:30 m.1654T>C HGVS 000000002325301 Study 1048 dbsnp: ENSG00000210077 MT-TV
365. In_progress guest 2019-12-02 03:21:28 m.1619C>T HGVS 000000002325300 Study 1048 dbsnp: ENSG00000210077 MT-TV
366. In_progress guest 2019-12-02 03:21:25 m.1556C>T HGVS 000000002325299 0000004154 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
367. In_progress guest 2019-12-02 03:21:22 m.1520T>C HGVS 000000002325298 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
368. In_progress guest 2019-12-02 03:21:19 m.1405C>T HGVS 000000002325297 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
369. In_progress guest 2019-12-02 03:21:16 m.1393G>A HGVS 000000002325296 0000001315 Study 1048 dbsnp:rs111033325 ENSG00000211459 MT-RNR1
370. In_progress guest 2019-12-02 03:21:13 m.1377C>T HGVS 000000002325295 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
371. In_progress guest 2019-12-02 03:21:10 m.1376C>T HGVS 000000002325294 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
372. In_progress guest 2019-12-02 03:21:07 m.1292A>G HGVS 000000002325293 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
373. In_progress guest 2019-12-02 03:21:04 m.1249T>C HGVS 000000002325292 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
374. In_progress guest 2019-12-02 03:21:02 m.1231A>T HGVS 000000002325291 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
375. In_progress guest 2019-12-02 03:20:59 m.1230C>T HGVS 000000002325290 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
376. In_progress guest 2019-12-02 03:20:56 m.1227G>A HGVS 000000002325289 0000014416 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
377. In_progress guest 2019-12-02 03:20:53 m.1211G>A HGVS 000000002325288 0000001308 Study 1048 dbsnp:rs397515725 ENSG00000211459 MT-RNR1
378. In_progress guest 2019-12-02 03:20:51 m.1185C>T HGVS 000000002325287 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
379. In_progress guest 2019-12-02 03:20:48 m.1173C>T HGVS 000000002325286 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
380. In_progress guest 2019-12-02 03:20:45 m.1120C>T HGVS 000000002325285 0000005077 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
381. In_progress guest 2019-12-02 03:20:43 m.1009C>T HGVS 000000002325284 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
382. In_progress guest 2019-12-02 03:20:36 m.979C>T HGVS 000000002325283 0000022932 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
383. In_progress guest 2019-12-02 03:20:32 m.951G>A HGVS 000000002325282 0000001289 Study 1048 dbsnp:rs200887992 ENSG00000211459 MT-RNR1
384. In_progress guest 2019-12-02 03:20:30 m.930G>A HGVS 000000002325281 0000004984 Study 1048 dbsnp:rs41352944 ENSG00000211459 MT-RNR1
385. In_progress guest 2019-12-02 03:20:27 m.883T>G HGVS 000000002325280 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
386. In_progress guest 2019-12-02 03:20:14 m.877G>C HGVS 000000002325279 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
387. In_progress guest 2019-12-02 03:20:10 m.870C>T HGVS 000000002325278 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
388. In_progress guest 2019-12-02 03:20:06 m.825T>A HGVS 000000002325277 0000004870 Study 1048 dbsnp:rs2853520 ENSG00000211459 MT-RNR1
389. In_progress guest 2019-12-02 03:20:01 m.813A>G HGVS 000000002325276 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
390. In_progress guest 2019-12-02 03:19:58 m.756C>T HGVS 000000002325275 Study 1048 dbsnp: ENSG00000211459 MT-RNR1
391. In_progress guest 2019-12-02 03:19:55 m.750A>G HGVS 000000002325274 0000004818 Study 1048 dbsnp:rs2853518 ENSG00000211459 MT-RNR1
392. In_progress guest 2019-12-02 03:19:50 m.263A>G HGVS 000000002325273 0000004360 Study 1048 dbsnp:rs386828869 ENSG00000211459 MT-RNR1
393. Approved lshen 2018-06-25 21:59:43 2:g.207014658_207014659del 2:g.207014658_207014659del MSCV_0019381 NDUFS1_000040 Study 1048 NDUFS1 RCV000329832;RCV00 ...
Choose one saved variant to edit:
1
Variant
Local ID:
2
**
Variant
Linking ID:
3
Gene
Gene symbol:
4
**
Gene
Reference sequence:
1. 1
2. 2
3. 3
4. 4
5. 5
6. 6
7. 7
8. 8
9. 9
10. 10
11. 11
12. 12
13. 13
14. 14
15. 15
16. 16
17. 17
18. 18
19. 19
20. 20
21. 21
22. 22
23. X
24. Y
25. M
5
**
Variant definition
HGVS:
6
**
Variant definition
Chromosome:
7
**
Variant definition
Start:
8
**
Variant definition
Stop:
9
**
Variant definition
Reference allele:
10
**
Variant definition
Alternate allele:
11
**
Structural variant definition
Variant type:
12
Structural variant definition
Outer start:
13
Structural variant definition
Inner start:
14
Structural variant definition
Inner stop:
15
Structural variant definition
Outer stop:
16
**
Structural variant definition
Variant length:
17
Structural variant definition
Copy number:
18
Structural variant definition
Reference copy number:
19
Structural variant definition
Breakpoint 1:
20
Structural variant definition
Breakpoint 2:
21
**
Structural variant definition
Comment on variant:
22
Structural variant definition
Trace or probe data:
23
Structural variant definition
Additional structural variant definition:
24
Structural variant definition
Variation identifiers:
25
Structural variant definition
Location:
26
Structural variant definition
Alternate designations:
27
Structural variant definition
Official allele name:
28
Structural variant definition
URL:
29
Variant
Additional_variant_information:
30
**
Assertion condition
Condition ID type:
1. OMIM
2. MeSH
3. MedGen
4. UMLS
5. Orphanet
6. HPO
7. Other - include it in "Condition ID value"
31
**
Assertion condition
Condition ID value:
32
**
Assertion condition
Preferred condition name:
33
**
Assertion condition
Condition category:
34
Assertion condition
Condition uncertainty:
35
Assertion condition
Condition comment:
36
Assertion condition
Additional_assertion condition:
37
**
Clinical significance
Clinical significance:
1. NOT provided
2. Pathogenic
3. Likely pathogenic
4. Uncertain significance
5. Likely benign
6. Benign
7. association
8. drug response
9. confers sensitivity
10. protective
11. risk factor
12. other
38
**
Clinical significance
Date last evaluated:
39
Clinical significance
Assertion method:
40
Clinical significance
Assertion method citation:
41
Clinical significance
Mode of inheritance:
1. Other/Unknown
2. Autosomal dominant inheritance
3. Autosomal recessive inheritance
4. Autosomal unknown
5. Codominant
6. Genetic anticipation
7. Mitochondrial inheritance
8. Sex-limited autosomal dominant
9. Somatic mutation
10. Sporadic
11. X-linked inheritance
12. Y-linked inheritance
42
Clinical significance
Clinical significance citations:
43
Clinical significance
Citations or URLs for clinical significance without database identifiers:
44
Clinical significance
Comment on clinical significance:
45
**
Clinical significance
Explanation if clinical significance is other or drug response:
46
Drug response condition
Drug_response_condition:
47
Clinical significance
Functional consequence:
48
Clinical significance
Comment on functional consequence:
49
Clinical significance
Additional clinical significance information:
50
**
Details of test and individual
Collection method:
51
**
Details of test and individual
Allele origin:
52
**
Details of test and individual
Affected status:
53
**
Details of test and individual
Structural variant method_analysis type:
54
Details of test and individual
Clinical features:
55
Details of test and individual
Comment on clinical features:
56
Details of test and individual
Date phenotype was evaluated:
57
Details of test and individual
Tissue:
58
Details of test and individual
Sex:
59
Details of test and individual
Age range:
60
Details of test and individual
Population Group Ethnicity:
61
Details of test and individual
Geographic origin:
62
Details of test and individual
Family history:
63
Details of test and individual
Indication:
64
Details of test and individual
Total number of individuals tested:
65
Details of test and individual
Number of families tested:
66
Details of test and individual
Additional details of individuals tested:
67
Details of testing results
Number of individuals with variant:
68
Details of testing results
Number of chromosomes with variant:
69
Details of testing results
Number of families with variant:
70
Details of testing results
Number of families with segregation observed:
71
Details of testing results
Secondary finding:
72
Details of testing results
Mosaicism:
73
Details of testing results
Number of homozygotes:
74
Details of testing results
Number of single heterozygotes:
75
Details of testing results
Number of compound heterozygotes:
76
Details of testing results
Number of hemizygotes:
77
Details of testing results
Evidence citations:
78
Details of testing results
Citations or URLs that cannot be represented in evidence citations column:
79
Details of testing results
Comment on evidence:
80
Details of testing results
Additional details of testing results:
81
Method
Test name or type:
82
Method
Platform type:
83
Method
Platform name:
84
Method
Method:
85
Method
Method purpose:
86
Method
Method citations:
87
Method
Software name and version:
88
Method
Software purpose:
89
Method
Testing laboratory:
90
Method
Date variant was reported to submitter:
91
Method
Testing laboratory interpretation:
92
Method
Additional method data:
93
General Comments and Accession
Comment:
94
General Comments and Accession
Private comment:
95
**
General Comments and Accession
ClinVarAccession:
96
General Comments and Accession
Novel or Update:
97
General Comments and Accession
Replaces ClinVarAccessions:
98
**
General Comments and Accession
Submitter of Variant:
lshen
99
**
General Comments and Accession
Study ID:
Add/Create
1. M9, 1049, MSeqDR Pathogenic Variant Submission Public Station (GRCh38), 2016-02-12 01:12:55
2. M8, 1048, MSeqDR Pathogenic Variant Submission Public Station (GRCh37/hg19), 2016-02-11 05:35:11
100
General Comments and Accession
Original_Variant:
101
General Comments and Accession
MSCV:
102
General Comments and Accession
ClinVar AlleleID:
103
General Comments and Accession
Permission:
1. Private
2. Group
3. Public
104
General Comments and Accession
Curation_status (change to "Completed" after filling all required information):
1. In_progress
2. Completed
3. Approved
Submitter full information:
Same as study submitter
Different from study submitter
Name:
E-mail:
Organization:
Organization ID:
Institution:
Head of lab:
Telephone:
URL