20030528078 |
33 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529017 |
34 |
G-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529018 |
43 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030428001 |
47 |
G-A |
non-coding |
Control Region |
Normal |
Kazhakh |
20030529043 |
48 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20140729001 |
50 |
T-C |
non-coding |
Control Region |
CAD+T2DM |
Asian Indian |
20030529001 |
53 |
G-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bihari |
20030528079 |
55 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528080 |
60 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528122 |
63 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030528123 |
66 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20120907009 |
67 |
G-C |
noncod |
D-Loop |
|
European |
20030527020 |
72 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20140630016 |
72 |
T-A |
non-coding |
Control Region |
Glioma |
|
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 |
20030528124 |
74 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20120907006 |
74 |
T-G |
noncod |
D-Loop |
|
European |
20030428002 |
75 |
G-A |
non-coding |
Control Region |
Normal |
Kazhakh |
20030529044 |
76 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529045 |
77 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529046 |
79 |
G-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528022 |
81 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529047 |
81 |
G-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528023 |
85 |
G-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529010 |
88 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528127 |
91 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20140214003 |
93 |
A-G |
non-coding |
Control Region |
Control |
Caucasian |
20030528024 |
94 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529036 |
96 |
C-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20160806004 |
96 |
C-A |
|
CR:HVS2 |
|
Iranian |
20030528069 |
97 |
G-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Muslim |
20030528070 |
98 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Muslim |
20030528128 |
102 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20030528129 |
103 |
G-A |
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 |
20030529037 |
108 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528025 |
109 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528131 |
114 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20030529011 |
119 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20140407001 |
120 |
C-A |
non-coding |
Control Region |
NON CODING |
ASIAN |
20140729002 |
120 |
C-A |
non-coding |
Control Region |
CAD+T2DM |
Asian Indian |
20030529048 |
121 |
G-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528132 |
122 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20030528151 |
124 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20000211004 |
125 |
T-G |
noncod |
D-Loop |
- |
Chinese |
20030527003 |
125 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030528133 |
125 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20021231006 |
126 |
T-C |
noncod |
D-Loop |
Normal |
Madia Gond tribe |
20091019002 |
129 |
T-C |
noncod |
D-Loop |
Normal |
Malay |
20030527022 |
131 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528026 |
131 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528027 |
135 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529038 |
136 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528134 |
142 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20030529039 |
143 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528135 |
144 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20030916001 |
146 |
T-A |
non-coding |
Control Region |
Liver Cancer |
Asian |
20140513001 |
146 |
T-C |
non-coding |
Control Region |
Breast cancer |
Senegalese |
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 |
20030528028 |
152 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528031 |
152 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030527025 |
154 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529040 |
155 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529029 |
157 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian India |
20030529020 |
159 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529030 |
162 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20021231007 |
163 |
A-G |
noncod |
D-Loop |
Normal |
Madia Gond tribe |
20030528154 |
164 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529004 |
164 |
C-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bihari |
20030528029 |
165 |
A-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20140724002 |
170 |
C-A |
non-coding |
Control Region |
CAD+T2DM |
Asian Indian |
20030528136 |
172 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20030529032 |
173 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528118 |
174 |
C-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Malayali |
20030527035 |
178 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528119 |
178 |
A-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Malayali |
20030529013 |
180 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20140214019 |
183 |
A-G |
non-coding |
Control Region |
|
|
20021231008 |
186 |
C-T |
noncod |
D-Loop |
Normal |
Madia Gond tribe |
20030529023 |
186 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20091019001 |
188 |
A-G |
noncod |
D-Loop |
Normal |
Malay |
20021231009 |
189 |
T-C |
noncod |
D-Loop |
Normal |
Madia Gond tribe |
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 |
20000211002 |
195 |
T-A |
noncod |
D-Loop |
- |
Indian |
20030528054 |
195 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20140214018 |
203 |
G-A |
non-coding |
Control Region |
|
Caucasian |
20030527006 |
204 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030527027 |
204 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030527007 |
206 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030527008 |
209 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
19990218005 |
216 |
T-C |
noncod |
D-Loop |
Hearing Loss |
Caucasian |
20140217002 |
217 |
T-C |
non-coding |
Control Region |
sCJD |
Han Chinese |
20070527004 |
220 |
T-A |
non-coding |
Control Region |
Breast Cancer |
Caucasian |
20030527010 |
224 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030528056 |
226 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030527037 |
227 |
A-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030527038 |
228 |
G-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528057 |
229 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528058 |
231 |
C-A |
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 |
20030527039 |
238 |
A-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528036 |
238 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030527040 |
239 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20000211003 |
246 |
T-C |
noncod |
D-Loop |
- |
Indian |
20040713010 |
251 |
G-A |
non-coding |
Control Region |
Esophageal Cancer |
Asian |
20040720001 |
251 |
G-A |
non-coding |
Control Region |
Breast Cancer |
Asian |
20010424001 |
253 |
C-A |
noncod |
D-Loop |
Sporadic Parathyroid Adenoma |
- |
20030528037 |
257 |
A-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030916002 |
259 |
A-G |
non-coding |
Control Region |
Liver Cancer |
Asian |
20030528085 |
260 |
G-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Muslim |
20040720002 |
260 |
G-A |
non-coding |
Control Region |
Breast Cancer |
Asian |
20050106002 |
262 |
C-T |
non-coding |
Control Region |
Normal |
Caucasian |
20030528001 |
263 |
A-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
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 |
20030528002 |
264 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528003 |
265 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20060605005 |
267 |
T-C |
non-coding |
Control Region |
Normal |
Indigenous Jehai |
20030528004 |
268 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20050106003 |
269 |
C-T |
non-coding |
Control Region |
Normal |
Caucasian |
20030528005 |
271 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
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 |
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 |
20010828002 |
285 |
C-T |
noncod |
D-Loop |
Sporadic Parathyroid Adenoma |
- |
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 |
20040327001 |
288 |
A-G |
non-coding |
Control Region |
Pancreatic Ductal Adenocarcinoma |
Caucasian |
20021231010 |
294 |
T-C |
noncod |
D-Loop |
Normal |
Madia Gond tribe |
20050106004 |
295 |
C-A |
non-coding |
Control Region |
Normal |
Caucasian |
20050106005 |
324 |
C-T |
non-coding |
Control Region |
Normal |
Caucasian |
20000211005 |
329 |
G-A |
noncod |
D-Loop |
- |
Malay |
19990218006 |
340 |
C-T |
noncod |
D-Loop |
Hearing Loss |
Caucasian |
20100905001 |
366 |
G-A |
non-coding |
Control Region |
Oral squamous cell carcinoma |
|
20140729003 |
369 |
C-T |
non-coding |
Control Region |
CAD+T2DM |
Asian Indian |
20120907005 |
377 |
|
|
|
|
European |
20000915002 |
447 |
C-G |
noncod |
D-Loop |
- |
Punjabi |
20091006002 |
447 |
C-G |
noncod |
D-Loop |
Normal |
Kedah Malays |
20000914001 |
463 |
C-T |
noncod |
D-Loop |
- |
- |
20000211009 |
469 |
C-A |
noncod |
D-Loop |
- |
Punjabi |
20050419001 |
480 |
T-C |
non-coding |
Control Region |
LHON |
Caucasian |
20040713011 |
481 |
C-T |
non-coding |
Control Region |
Esophageal Cancer |
Asian |
20040720003 |
481 |
C-T |
non-coding |
Control Region |
Breast Cancer |
Asian |
20000211001 |
482 |
T-C |
noncod |
D-Loop |
- |
Indian |
20000914002 |
485 |
T-C |
noncod |
D-Loop |
- |
Indian |
20050106007 |
489 |
T-G |
non-coding |
Control Region |
Normal |
Caucasian |
20101227002 |
489 |
T-C |
non-coding |
Control Region |
Oral cancer |
Asian-Bengali |
20140214007 |
496 |
C-T |
non-coding |
Control Region |
|
Caucasian |
20030916003 |
504 |
T-C |
non-coding |
Control Region |
Liver Cancer |
Asian |
20021231001 |
512 |
A-G |
noncod |
D-Loop |
Leigh Syndrome |
Caucasian |
20130520002 |
522 |
C-T |
non-coding |
Control Region |
|
S\xE3o Paulo |
20130520003 |
526 |
G-A |
non-coding |
Control Region |
|
|
20040720004 |
530 |
C-T |
non-coding |
Control Region |
Breast Cancer |
Asian |
20040720005 |
556 |
A-T |
non-coding |
Control Region |
Breast Cancer |
Asian |
20000914003 |
560 |
C-T |
noncod |
D-Loop |
- |
Kadazan-Dusun |
20040720006 |
570 |
C-A |
non-coding |
Control Region |
Breast Cancer |
Asian |
20110302001 |
571 |
C-A |
non-coding |
Control Region |
complex I deficiency |
|
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 |
20040720009 |
593 |
T-C |
tRNA |
MT-TF |
Breast Cancer |
Asian |
20100804001 |
596 |
T-C |
tRNA |
MT-TF |
|
|
20100804002 |
629 |
T-C |
tRNA |
MT-TF |
|
|
20110302002 |
634 |
T-C |
tRNA |
MT-TF |
combined complex I+IV deficiency, epilepsia, muscle hypotonia, mental retardation |
|
20100804003 |
648 |
A-G |
tRNA |
MT-TF |
|
|
20120119001 |
650 |
T-C |
Noncod |
MT-TF |
normal |
Indonesian |
20100804004 |
669 |
T-C |
tRNA |
MT-TF |
|
|
20071219001 |
689 |
T-C |
rRNA |
MT-RNR1 |
Normal |
Caucasian |
20100804005 |
709 |
G-A |
rRNA |
MT-RNR1 |
|
|
19990316006 |
711 |
T-C |
noncod |
MT-RNR1 |
- |
- |
20111230001 |
712 |
C-A |
rRNA |
MT-RNR1 |
non-syndromic hearing impairment |
Caucasian |
20110302003 |
719 |
G-A |
rRNA |
MT-RNR1 |
combined complex I + IV deficiency |
|
20110503001 |
720 |
T-C |
rRNA |
MT-RNR1 |
Congenital Non-syndromic Deafness |
|
20050919001 |
722 |
C-G |
rRNA |
MT-RNR1 |
Normal |
Arabs |
20050919002 |
723 |
A-G |
rRNA |
MT-RNR1 |
Normal |
Arabs |
20050308004 |
735 |
A-G |
rRNA |
MT-RNR1 |
Deafness |
Africain |
20110302004 |
739 |
C-T |
rRNA |
MT-RNR1 |
combined complex I+IV defiency |
|
20050308003 |
742 |
T-C |
rRNA |
MT-RNR1 |
Normal |
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 |
20100804009 |
751 |
A-C |
rRNA |
MT-RNR1 |
|
|
20100804010 |
751 |
A-G |
rRNA |
MT-RNR1 |
|
|
20100804011 |
769 |
G-A |
rRNA |
MT-RNR1 |
|
|
20140721003 |
780 |
G-A |
rRNA |
MT-RNR1 |
Normal |
African |
20111230002 |
786 |
G-A |
rRNA |
MT-RNR1 |
progressive non syndromic hearing loss |
Caucasian |
20050308005 |
794 |
T-A |
rRNA |
MT-RNR1 |
Deafness |
Africain |
20050313001 |
813 |
A-G |
rRNA |
MT-RNR1 |
Deafness |
Africain |
20100804012 |
813 |
A-G |
rRNA |
MT-RNR1 |
|
|
20100804013 |
825 |
T-A |
rRNA |
MT-RNR1 |
|
|
20050919003 |
827 |
A-G |
rRNA |
MT-RNR1 |
Normal |
Arabs |
20100804014 |
827 |
A-G |
rRNA |
MT-RNR1 |
|
|
20050308002 |
868 |
C-T |
rRNA |
MT-RNR1 |
Normal |
Africain |
20100804015 |
896 |
A-G |
rRNA |
MT-RNR1 |
|
|
20081112001 |
930 |
G-C |
noncod |
MT-RNR1 |
Normal |
Yakut |
20100804016 |
930 |
G-A |
rRNA |
MT-RNR1 |
|
|
20100804017 |
951 |
G-A |
rRNA |
MT-RNR1 |
|
|
20100804018 |
953 |
T-C |
rRNA |
MT-RNR1 |
|
|
20050308001 |
954 |
C-T |
rRNA |
MT-RNR1 |
Normal |
Africain |
20100804019 |
957 |
C-G |
rRNA |
MT-RNR1 |
|
|
20110503002 |
960 |
C-A |
rRNA |
MT-RNR1 |
Congenital Non-syndromic Deafness |
|
20060913001 |
961 |
T-A |
rRNA |
MT-RNR1 |
Deafness |
Russian |
20100804020 |
961 |
T-C |
rRNA |
MT-RNR1 |
|
|
20100804021 |
961 |
T-G |
rRNA |
MT-RNR1 |
|
|
20100804022 |
962 |
C-G |
rRNA |
MT-RNR1 |
|
|
20100804023 |
980 |
T-C |
rRNA |
MT-RNR1 |
|
|
20010828003 |
1007 |
G-A |
noncod |
MT-RNR1 |
Sporadic Parathyroid Adenoma |
- |
20100804024 |
1007 |
G-A |
rRNA |
MT-RNR1 |
|
|
20100804025 |
1008 |
A-G |
rRNA |
MT-RNR1 |
|
|
20110302005 |
1009 |
C-T |
rRNA |
MT-RNR1 |
combined complex I + IV defiency |
|
20110302015 |
1011 |
C-A |
rRNA |
MT-RNR1 |
combined complex I + IV deficiency |
|
20050919004 |
1018 |
G-A |
rRNA |
MT-RNR1 |
Normal |
Arabs |
20100804026 |
1018 |
G-A |
rRNA |
MT-RNR1 |
|
|
20070709001 |
1027 |
A-G |
rRNA |
MT-RNR1 |
Control |
Altaian |
20100804027 |
1053 |
A-G |
rRNA |
MT-RNR1 |
|
|
20100804028 |
1119 |
T-C |
rRNA |
MT-RNR1 |
|
|
20161022001 |
1147 |
G-A |
noncod |
RNR1 |
hearing loss |
Iranian |
20050919005 |
1189 |
T-C |
rRNA |
MT-RNR1 |
Normal |
Arabs |
20100804029 |
1189 |
T-C |
rRNA |
MT-RNR1 |
|
|
20100804030 |
1193 |
T-C |
rRNA |
MT-RNR1 |
|
|
20100804031 |
1243 |
T-C |
rRNA |
MT-RNR1 |
|
|
20050919006 |
1245 |
T-G |
rRNA |
MT-RNR1 |
Normal |
Arabs |
20100804032 |
1284 |
T-C |
rRNA |
MT-RNR1 |
|
|
20110302016 |
1386 |
T-C |
rRNA |
MT-RNR1 |
combined complex I + IV deficiency |
|
20100804033 |
1391 |
T-C |
rRNA |
MT-RNR1 |
|
|
20100804034 |
1406 |
T-C |
rRNA |
MT-RNR1 |
|
|
20101129003 |
1406 |
T-C |
rRNA |
MT-RNR1 |
Nonsyndromic Hearing Loss |
Turkish |
20100804035 |
1435 |
A-T |
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 |
19990308002 |
1462 |
G-A |
noncod |
MT-RNR1 |
Diabetes/Deafness |
- |
20081106001 |
1462 |
G-A |
noncod |
MT-RNR1 |
Non-Syndromic Hearing Impairment (NSHI) |
Hindu |
20100804037 |
1462 |
G-A |
rRNA |
MT-RNR1 |
|
|
20110503003 |
1462 |
G-T |
rRNA |
MT-RNR1 |
Congenital Non-syndromic Deafness |
|
20100804038 |
1503 |
G-A |
rRNA |
MT-RNR1 |
|
|
20081106002 |
1508 |
C-T |
noncod |
MT-RNR1 |
Non-Syndromic Hearing Impairment (NSHI) |
Hindu |
20100804039 |
1530 |
A-G |
rRNA |
MT-RNR1 |
|
|
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 |
20070709002 |
1557 |
A-C |
rRNA |
MT-RNR1 |
Deafness |
Russian |
20140729004 |
1597 |
C-A |
rRNA |
MT-RNR1 |
CAD+T2DM |
Asian Indian |
20100804041 |
1598 |
G-A |
rRNA |
MT-RNR1 |
|
|
20110302021 |
1607 |
T-C |
tRNA |
MT-TV |
complex I deficiency |
|
20101005001 |
1640 |
A-G |
tRNA |
MT-TV |
MELAS , mitochondrial diabetes, bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, |
Africain |
20100804042 |
1664 |
G-A |
tRNA |
MT-TV |
|
|
20100804043 |
1676 |
A-G |
rRNA |
MT-RNR2 |
|
|
20110302006 |
1692 |
A-T |
rRNA |
MT-RNR2 |
combined complex I + IV deficiency |
|
20010828004 |
1700 |
T-C |
noncod |
MT-RNR2 |
Sporadic Parathyroid Adenoma |
- |
20041220011 |
1700 |
T-C |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian |
20100804044 |
1700 |
T-C |
rRNA |
MT-RNR2 |
|
|
20010301006 |
1703 |
C-T |
noncod |
MT-RNR2 |
Breast Cancer |
Caucasian |
20060130005 |
1703 |
C-T |
rRNA |
MT-RNR2 |
Mental Retardation |
Caucasian |
20100804045 |
1709 |
G-A |
rRNA |
MT-RNR2 |
|
|
20100804046 |
1711 |
C-T |
rRNA |
MT-RNR2 |
|
|
20041220007 |
1713 |
C-T |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian-Marathi |
20041220008 |
1713 |
A-G |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian-Marathi |
20041220009 |
1715 |
C-T |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian-Marathi |
20041220005 |
1719 |
G-A |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian-Muslim |
20100804047 |
1719 |
G-A |
rRNA |
MT-RNR2 |
|
|
20100804048 |
1720 |
C-T |
rRNA |
MT-RNR2 |
|
|
20050919007 |
1721 |
C-T |
rRNA |
MT-RNR2 |
Normal |
Arabs |
20100804049 |
1721 |
C-T |
rRNA |
MT-RNR2 |
|
|
20100804050 |
1738 |
T-C |
rRNA |
MT-RNR2 |
|
|
20121022005 |
1760 |
|
|
|
CAD patient |
Caucasian/Middle European |
20110302022 |
1767 |
G-A |
rRNA |
MT-RNR2 |
complex I deficiency |
|
20041220002 |
1780 |
T-C |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian |
20100804051 |
1806 |
T-C |
rRNA |
MT-RNR2 |
|
|
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 |
|
|
20100804053 |
1812 |
C-G |
rRNA |
MT-RNR2 |
|
|
20100804054 |
1813 |
C-G |
rRNA |
MT-RNR2 |
|
|
20100804055 |
1824 |
T-C |
rRNA |
MT-RNR2 |
|
|
20100804056 |
1834 |
T-C |
rRNA |
MT-RNR2 |
|
|
20050919009 |
1837 |
C-A |
rRNA |
MT-RNR2 |
Normal |
Arabs |
20100804057 |
1842 |
A-G |
rRNA |
MT-RNR2 |
|
|
20070207001 |
1843 |
T-C |
rRNA |
MT-RNR2 |
Centenarian |
Caucasian |
20050919010 |
1845 |
C-A |
rRNA |
MT-RNR2 |
Normal |
Arabs |
20100804058 |
1850 |
T-C |
rRNA |
MT-RNR2 |
|
|
20110302018 |
1886 |
G-A |
rRNA |
MT-RNR2 |
combined complex I + IV deficiency, Mitochondrial Myopathy |
|
20100804059 |
1888 |
G-A |
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 |
|
20100804061 |
1977 |
T-C |
rRNA |
MT-RNR2 |
|
|
20110503004 |
1978 |
A-C |
rRNA |
MT-RNR2 |
Congenital Non-syndromic Deafness |
|
20100804062 |
2060 |
A-C |
rRNA |
MT-RNR2 |
|
|
20100804063 |
2060 |
A-G |
rRNA |
MT-RNR2 |
|
|
20100804064 |
2098 |
G-A |
rRNA |
MT-RNR2 |
|
|
20100804065 |
2141 |
T-C |
rRNA |
MT-RNR2 |
|
|
20100804066 |
2158 |
T-C |
rRNA |
MT-RNR2 |
|
|
20121022003 |
2170 |
|
|
|
control/normal/healthy |
Caucasian/Middle European |
20100804067 |
2217 |
C-T |
rRNA |
MT-RNR2 |
|
|
20010828005 |
2218 |
C-T |
noncod |
MT-RNR2 |
Sporadic Parathyroid Adenoma |
- |
20100804068 |
2225 |
C-T |
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 |
|
|
20100804072 |
2259 |
C-T |
rRNA |
MT-RNR2 |
|
|
20100804073 |
2264 |
A-G |
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 |
|
|
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 |
|
|
20100804080 |
2352 |
T-C |
rRNA |
MT-RNR2 |
|
|
20050919011 |
2355 |
A-G |
rRNA |
MT-RNR2 |
Normal |
Arabs |
20110302009 |
2358 |
A-G |
rRNA |
MT-RNR2 |
complex I deficiency |
|
20041220014 |
2361 |
G-A |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian-Marathi |
20100804081 |
2361 |
G-A |
rRNA |
MT-RNR2 |
|
|
20100804082 |
2387 |
T-C |
rRNA |
MT-RNR2 |
|
|
20100804083 |
2395 |
A-C |
rRNA |
MT-RNR2 |
|
|
20100804084 |
2395 |
A-G |
rRNA |
MT-RNR2 |
|
|
20041220016 |
2396 |
C-T |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian |
20121022004 |
2412 |
|
|
|
control/normal/healthy |
Caucasian/Middle European |
20100804085 |
2416 |
T-C |
rRNA |
MT-RNR2 |
|
|
20100804086 |
2417 |
C-G |
rRNA |
MT-RNR2 |
|
|
20140729007 |
2435 |
G-T |
rRNA |
MT-RNR2 |
CAD+T2DM |
Asian Indian |
20050919012 |
2442 |
T-C |
rRNA |
MT-RNR2 |
Normal |
Arabs |
20100804087 |
2442 |
T-C |
rRNA |
MT-RNR2 |
|
|
20050919013 |
2451 |
A-C |
rRNA |
MT-RNR2 |
Normal |
Arabs |
20100804088 |
2483 |
T-C |
rRNA |
MT-RNR2 |
|
|
20050919014 |
2505 |
A-C |
rRNA |
MT-RNR2 |
Normal |
Arabs |
20140630001 |
2523 |
C-T |
rRNA |
MT-RNR2 |
Temporal lobe epilepsy with hippocampal sclerosis |
|
20100804089 |
2581 |
A-G |
rRNA |
MT-RNR2 |
|
|
20100804090 |
2607 |
T-A |
rRNA |
MT-RNR2 |
|
|
20070207003 |
2623 |
A-G |
rRNA |
MT-RNR2 |
Centenarian |
Caucasian |
20041220003 |
2644 |
A-G |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian-Marathi |
20100804091 |
2702 |
G-A |
rRNA |
MT-RNR2 |
|
|
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 |
|
|
20100804096 |
2758 |
G-A |
rRNA |
MT-RNR2 |
|
|
20100804097 |
2768 |
A-G |
rRNA |
MT-RNR2 |
|
|
20100804098 |
2772 |
C-T |
rRNA |
MT-RNR2 |
|
|
20100804099 |
2775 |
A-G |
rRNA |
MT-RNR2 |
|
|
20100804100 |
2789 |
C-T |
rRNA |
MT-RNR2 |
|
|
20100804101 |
2792 |
A-G |
rRNA |
MT-RNR2 |
|
|
20100804102 |
2831 |
G-A |
rRNA |
MT-RNR2 |
|
|
20100804103 |
2833 |
A-G |
rRNA |
MT-RNR2 |
|
|
20100804104 |
2838 |
A-C |
rRNA |
MT-RNR2 |
|
|
20100804105 |
2850 |
T-C |
rRNA |
MT-RNR2 |
|
|
20100804106 |
2873 |
A-G |
rRNA |
MT-RNR2 |
|
|
20120907002 |
2876 |
|
|
|
|
European |
20100804107 |
2885 |
T-C |
rRNA |
MT-RNR2 |
|
|
20100804108 |
2955 |
T-C |
rRNA |
MT-RNR2 |
|
|
20100804109 |
3010 |
G-A |
rRNA |
MT-RNR2 |
|
|
20100804110 |
3027 |
T-C |
rRNA |
MT-RNR2 |
|
|
20100804111 |
3083 |
T-C |
rRNA |
MT-RNR2 |
|
|
20100804112 |
3105 |
A-G |
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 |
|
|
20010828006 |
3160 |
A-T |
noncod |
MT-RNR2 |
Sporadic Parathyroid Adenoma |
- |
20100804114 |
3173 |
G-A |
rRNA |
MT-RNR2 |
|
|
19990316008 |
3184 |
C-T |
noncod |
MT-RNR2 |
- |
- |
19990308003 |
3197 |
T-C |
noncod |
MT-RNR2 |
Encephalopathy Cardiomyopathy |
Mennonite |
20041220012 |
3197 |
T-C |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian |
20100804115 |
3197 |
T-C |
rRNA |
MT-RNR2 |
|
|
20110314001 |
3197 |
T-C |
rRNA |
MT-RNR2 |
LHON |
Caucasion |
20100804116 |
3202 |
T-C |
rRNA |
MT-RNR2 |
|
|
20100804117 |
3203 |
A-C |
rRNA |
MT-RNR2 |
|
|
20100804118 |
3204 |
C-G |
rRNA |
MT-RNR2 |
|
|
20100804119 |
3204 |
C-T |
rRNA |
MT-RNR2 |
|
|
20021231003 |
3206 |
C-T |
noncod |
MT-RNR2 |
MELAS |
Caucasian |
20100804120 |
3207 |
A-C |
rRNA |
MT-RNR2 |
|
|
20100804121 |
3212 |
C-T |
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 |
|
|
20030912001 |
3242 |
G-A |
tRNA |
MT-TL1 |
Myelodysplastic Syndrome (MDS) |
Caucasian |
20140214021 |
3242 |
G-A |
tRNA |
MT-TL1 |
CPEO |
Caucasian |
20140214020 |
3243 |
A-G |
tRNA |
MT-TL1 |
Melas |
|
20140214022 |
3244 |
G-A |
tRNA |
MT-TL1 |
CPEO |
Caucasian |
20100804123 |
3254 |
C-A |
tRNA |
MT-TL1 |
|
|
20111212002 |
3298 |
C-G |
tRNA |
MT-TL1 |
normal |
Africain |
20100804124 |
3308 |
T-C |
M-T |
MT-ND1 |
|
|
20090315002 |
3316 |
G-A |
A-T |
MT-ND1 |
Uterine Leiomyomas |
Asian Indian |
20100804125 |
3316 |
G-A |
A-T |
MT-ND1 |
|
|
20101129004 |
3316 |
G-A |
A-T |
MT-ND1 |
Nonsyndromic Hearing Loss |
FARS |
20120110001 |
3321 |
|
|
|
Cardiomyopathy |
Caucasian/Africain |
20090315005 |
3327 |
A-C |
syn |
MT-ND1 |
Uterine Leiomyomas |
Asian Indian |
20100804126 |
3335 |
T-C |
I-T |
MT-ND1 |
|
|
20100804127 |
3336 |
T-C |
syn |
MT-ND1 |
|
|
20100804128 |
3338 |
T-C |
V-A |
MT-ND1 |
|
|
20060518004 |
3342 |
C-T |
syn |
MT-ND1 |
- |
Caucasian |
20090315004 |
3342 |
C-A |
syn |
MT-ND1 |
Uterine Leiomyomas |
Asian Indian |
20100804129 |
3348 |
A-G |
syn |
MT-ND1 |
|
|
20011206001 |
3351 |
C-T |
syn |
MT-ND1 |
Unknown cardio-facio-cutaneous syndrome |
Caucasian |
20090315009 |
3352 |
G-A |
A-T |
MT-ND1 |
Uterine Leiomyomas |
Asian Indian |
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 |
|
|
20090315007 |
3376 |
G-A |
E-K |
MT-ND1 |
Uterine Leiomyomas |
Asian Indian |
20090315008 |
3380 |
G-A |
R-Q |
MT-ND1 |
Uterine Leiomyomas |
Asian Indian |
20110503005 |
3387 |
T-C |
syn |
MT-ND1 |
Congenital Non-syndromic Deafness |
|
20110704001 |
3388 |
C-A |
L-M |
MT-ND1 |
non-syndromic deafness |
|
20100804132 |
3394 |
T-C |
Y-H |
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 |
|
|
20100804134 |
3398 |
T-C |
M-T |
MT-ND1 |
|
|
20100804135 |
3399 |
A-T |
M-I |
MT-ND1 |
|
|
20090315006 |
3421 |
G-A |
V-I |
MT-ND1 |
Uterine Leiomyomas |
Asian Indian |
20100804136 |
3423 |
T-C |
syn |
MT-ND1 |
|
|
20100804137 |
3426 |
A-G |
syn |
MT-ND1 |
|
|
20100804138 |
3434 |
A-G |
Y-C |
MT-ND1 |
|
|
20110503006 |
3438 |
G-T |
syn |
MT-ND1 |
Congenital Non-syndromic Deafness |
|
20090315003 |
3442 |
C-T |
syn |
MT-ND1 |
Uterine Leiomyomas |
Asian Indian |
20110503007 |
3444 |
A-T |
syn |
MT-ND1 |
Congenital Non-syndromic Deafness |
|
20140729009 |
3444 |
A-T |
syn |
MT-ND1 |
CAD+T2DM |
Asian Indian |
20100804139 |
3447 |
A-G |
syn |
MT-ND1 |
|
|
20110503008 |
3456 |
T-G |
syn |
MT-ND1 |
Congenital Non-syndromic Deafness |
|
20100804140 |
3460 |
G-A |
A-T |
MT-ND1 |
|
|
20100804141 |
3480 |
A-G |
syn |
MT-ND1 |
|
|
20100804142 |
3483 |
G-A |
syn |
MT-ND1 |
|
|
20110503009 |
3486 |
C-T |
syn |
MT-ND1 |
Congenital Non-syndromic Deafness |
|
20100804143 |
3504 |
T-C |
syn |
MT-ND1 |
|
|
20100804144 |
3505 |
A-G |
T-A |
MT-ND1 |
|
|
20040217001 |
3507 |
C-T |
syn |
MT-ND1 |
- |
Caucasian |
20041107006 |
3516 |
C-T |
syn |
MT-ND1 |
Type 2 Diabetes Mellitus |
Mongolia |
20050919032 |
3527 |
C-A |
A-D |
MT-ND1 |
Normal |
Arabs |
20040809001 |
3528 |
C-T |
syn |
MT-ND1 |
Myopathy |
Chinese-China |
20040210001 |
3531 |
G-A |
syn |
MT-ND1 |
NAION |
Arabs |
20100804145 |
3531 |
G-A |
syn |
MT-ND1 |
|
|
20100804146 |
3535 |
T-A |
L-M |
MT-ND1 |
|
|
20100804147 |
3540 |
T-C |
syn |
MT-ND1 |
|
|
20000825002 |
3547 |
A-G |
I-V |
MT-ND1 |
Pancreatic Cancer |
Caucasian |
20100804148 |
3547 |
A-G |
I-V |
MT-ND1 |
|
|
19990218007 |
3552 |
T-A |
syn |
MT-ND1 |
LHON |
Hispanic |
20100804149 |
3552 |
T-C |
syn |
MT-ND1 |
|
|
20100804150 |
3565 |
A-G |
T-A |
MT-ND1 |
|
|
20040713001 |
3571 |
C-T |
L-F |
MT-ND1 |
Oral Cancer |
Asian |
20051031001 |
3579 |
A-G |
syn |
MT-ND1 |
Encephalomyopathy |
Caucasian |
20010828008 |
3591 |
G-A |
P-L |
MT-ND1 |
Sporadic Parathyroid Adenoma |
- |
20100804151 |
3591 |
G-A |
syn |
MT-ND1 |
|
|
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 |
20041107002 |
3605 |
T-C |
L-P |
MT-ND1 |
Type 2 Diabetes Mellitus |
Mongolia |
20090714006 |
3609 |
C-T |
no |
MT-ND1 |
Aminoglycoside-induced hearing loss |
Caucasian |
20000825017 |
3635 |
G-A |
S-N |
MT-ND1 |
Pancreatic Cancer |
Caucasian |
20031029001 |
3645 |
T-C |
syn |
MT-ND1 |
LHON |
Arabs |
20100804153 |
3645 |
T-C |
syn |
MT-ND1 |
|
|
20110503010 |
3652 |
A-G |
I-V |
MT-ND1 |
Congenital Non-syndromic Deafness |
|
20100804154 |
3654 |
C-T |
syn |
MT-ND1 |
|
|
19990316010 |
3666 |
G-A |
syn |
MT-ND1 |
- |
- |
20100804155 |
3666 |
G-A |
syn |
MT-ND1 |
|
|
20000825018 |
3670 |
G-A |
A-T |
MT-ND1 |
Pancreatic Cancer |
Caucasian |
20000825019 |
3670 |
G-A |
A-T |
MT-ND1 |
Pancreatic Cancer |
Caucasian |
20100804156 |
3672 |
A-G |
syn |
MT-ND1 |
|
|
20100804157 |
3687 |
C-T |
syn |
MT-ND1 |
|
|
19990316011 |
3693 |
G-A |
syn |
MT-ND1 |
- |
- |
20100804158 |
3693 |
G-A |
syn |
MT-ND1 |
|
|
20091229001 |
3710 |
C-T |
A-V |
MT-ND1 |
Breast Cancer |
Caucasian |
20100804159 |
3720 |
A-G |
syn |
MT-ND1 |
|
|
20100804160 |
3732 |
T-C |
syn |
MT-ND1 |
|
|
20100804161 |
3735 |
A-G |
syn |
MT-ND1 |
|
|
20100804162 |
3736 |
G-A |
V-I |
MT-ND1 |
|
|
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 |
|
|
20100804166 |
3753 |
T-C |
syn |
MT-ND1 |
|
|
20091229002 |
3756 |
A-G |
syn |
MT-ND1 |
Breast Cancer |
Africain |
20100804167 |
3756 |
A-G |
syn |
MT-ND1 |
|
|
20100804168 |
3766 |
T-C |
syn |
MT-ND1 |
|
|
20040210003 |
3768 |
A-G |
syn |
MT-ND1 |
NAION |
Arabs |
20100804169 |
3777 |
T-C |
syn |
MT-ND1 |
|
|
20110503011 |
3783 |
C-T |
syn |
MT-ND1 |
Congenital Non-syndromic Deafness |
|
20100804170 |
3796 |
A-G |
T-A |
MT-ND1 |
|
|
20100804171 |
3801 |
T-C |
syn |
MT-ND1 |
|
|
20091229003 |
3803 |
T-C |
I-T |
MT-ND1 |
Breast Cancer |
Caucasian |
20100804172 |
3825 |
A-G |
syn |
MT-ND1 |
|
|
20100804173 |
3826 |
T-C |
syn |
MT-ND1 |
|
|
20040210004 |
3834 |
G-A |
syn |
MT-ND1 |
NAION |
Arabs |
20100804174 |
3834 |
G-A |
syn |
MT-ND1 |
|
|
20091229004 |
3846 |
C-T |
syn |
MT-ND1 |
Breast Cancer |
Amerindian |
20040210005 |
3847 |
T-C |
syn |
MT-ND1 |
NAION |
Arabs |
20050919016 |
3847 |
T-C |
syn |
MT-ND1 |
Normal |
Arabs |
20100804175 |
3847 |
T-C |
syn |
MT-ND1 |
|
|
20100804176 |
3849 |
G-A |
syn |
MT-ND1 |
|
|
20100519001 |
3861 |
A-G |
syn |
MT-ND1 |
Leigh Syndrome |
Caucasian/Africain |
20100804177 |
3861 |
A-G |
syn |
MT-ND1 |
|
|
20050809001 |
3866 |
T-C |
I-T |
MT-ND1 |
Normal |
Arabs |
20100804178 |
3866 |
T-G |
I-S |
MT-ND1 |
|
|
20120124001 |
3873 |
A-G |
syn |
MT-ND1 |
Normal |
Indonesian |
20100804179 |
3874 |
C-T |
syn |
MT-ND1 |
|
|
20100804180 |
3882 |
G-A |
syn |
MT-ND1 |
|
|
20120618005 |
3893 |
C-G |
T-S |
MT-ND1 |
LHON |
Iranian |
20110503012 |
3894 |
C-T |
syn |
MT-ND1 |
Congenital Non-syndromic Deafness |
|
20100804181 |
3895 |
C-A |
P-T |
MT-ND1 |
|
|
20140729010 |
3900 |
C-G |
F-L |
MT-ND1 |
CAD+T2DM |
Asian Indian |
20100804182 |
3915 |
G-A |
syn |
MT-ND1 |
|
|
20010301007 |
3921 |
C-A |
syn |
MT-ND1 |
Breast Cancer |
Caucasian |
20040210006 |
3921 |
C-A |
syn |
MT-ND1 |
NAION |
Arabs |
20060518005 |
3943 |
A-G |
I-V |
MT-ND1 |
- |
Caucasian |
20100804183 |
3944 |
T-C |
I-T |
MT-ND1 |
|
|
20110701001 |
3959 |
G-A |
G-D |
MT-ND1 |
|
|
20140729011 |
3959 |
G-A |
G-D |
MT-ND1 |
CAD+T2DM |
Asian Indian |
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 |
|
|
20040912001 |
3993 |
A-G |
syn |
MT-ND1 |
Normal |
Arabs |
20100804187 |
3997 |
A-C |
I-L |
MT-ND1 |
|
|
20100804188 |
4000 |
A-T |
I-F |
MT-ND1 |
|
|
20100804189 |
4005 |
A-T |
M-I |
MT-ND1 |
|
|
20050813001 |
4012 |
A-G |
T-A |
MT-ND1 |
Normal |
Arabs |
20100804190 |
4012 |
A-G |
T-A |
MT-ND1 |
|
|
20040912002 |
4013 |
C-G |
T-S |
MT-ND1 |
Normal |
Arabs |
20080414003 |
4017 |
C-T |
syn |
MT-ND1 |
Hypertrophic Cardiomyopathy |
Caucasian |
20100804191 |
4017 |
C-T |
syn |
MT-ND1 |
|
|
20100804192 |
4020 |
C-T |
syn |
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 |
|
|
20100804195 |
4025 |
C-T |
T-M |
MT-ND1 |
|
|
20100804196 |
4026 |
A-G |
syn |
MT-ND1 |
|
|
20101209002 |
4032 |
C-T |
syn |
MT-ND1 |
Cardiomyopathy |
|
20100804197 |
4038 |
A-G |
syn |
MT-ND1 |
|
|
20100804198 |
4047 |
T-C |
syn |
MT-ND1 |
|
|
20100804199 |
4048 |
G-A |
D-N |
MT-ND1 |
|
|
20060518006 |
4065 |
A-G |
syn |
MT-ND1 |
- |
Caucasian |
20100804200 |
4065 |
A-G |
syn |
MT-ND1 |
|
|
20080414002 |
4080 |
T-C |
syn |
MT-ND1 |
Cardiomyopathy |
Caucasian/Africain |
20100804201 |
4080 |
T-C |
syn |
MT-ND1 |
|
|
20100804202 |
4086 |
C-T |
syn |
MT-ND1 |
|
|
20100804203 |
4089 |
C-T |
syn |
MT-ND1 |
|
|
20040210007 |
4092 |
G-A |
syn |
MT-ND1 |
NAION |
Arabs |
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 |
|
|
20100804206 |
4107 |
C-T |
syn |
MT-ND1 |
|
|
20100804207 |
4112 |
T-C |
L-P |
MT-ND1 |
|
|
20100804208 |
4113 |
G-A |
syn |
MT-ND1 |
|
|
20100804209 |
4117 |
T-C |
syn |
MT-ND1 |
|
|
20100804210 |
4122 |
A-G |
syn |
MT-ND1 |
|
|
20100804211 |
4131 |
A-G |
syn |
MT-ND1 |
|
|
20010424002 |
4172 |
T-C |
L-P |
MT-ND1 |
Sporadic Parathyroid Adenoma |
- |
20100804212 |
4172 |
T-A |
L-Q |
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 |
|
|
20040317011 |
4204 |
T-C |
syn |
MT-ND1 |
Normal |
Saudi Arab |
20061030001 |
4206 |
A-G |
syn |
MT-ND1 |
Control |
south African Mixed Ancestry |
20010828010 |
4216 |
T-C |
Y-H |
MT-ND1 |
Sporadic Parathyroid Adenoma |
- |
20050813014 |
4216 |
T-C |
Y-H |
MT-ND1 |
Normal |
Arabs |
20100804215 |
4216 |
T-C |
Y-H |
MT-ND1 |
|
|
20100804216 |
4221 |
C-A |
syn |
MT-ND1 |
|
|
20100804217 |
4225 |
A-G |
M-V |
MT-ND1 |
|
|
20100804218 |
4227 |
A-G |
syn |
MT-ND1 |
|
|
20061030002 |
4232 |
T-C |
I-T |
MT-ND1 |
Huntington Disease-Like 2 |
south African Mixed Ancestry |
20070527005 |
4246 |
A-G |
I-V |
MT-ND1 |
Breast Cancer |
Caucasian |
20110801006 |
4254 |
T-C |
syn |
MT-ND1 |
|
ASIAN |
20040210009 |
4257 |
A-G |
syn |
MT-ND1 |
NAION |
Arabs |
20100804219 |
4291 |
T-C |
tRNA |
MT-TI |
|
|
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 |
|
|
20080117001 |
4313 |
T-C |
noncod |
MT-TI |
Deafness |
Caucasian/Africain |
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 |
|
|
20100804223 |
4336 |
T-C |
tRNA |
MT-TQ |
|
|
20070612001 |
4363 |
T-C |
tRNA |
MT-TQ |
Normal |
Saudi Arabs |
20100804224 |
4363 |
T-C |
tRNA |
MT-TQ |
|
|
20100804225 |
4388 |
A-G |
tRNA |
MT-TQ |
|
|
20081202001 |
4395 |
A-G |
noncod |
MT-TQ |
cardiomyopathy |
Afrique |
20100804226 |
4395 |
A-G |
tRNA |
MT-TQ |
|
|
20100804227 |
4401 |
A-T |
non-coding |
MT-NC2 |
|
|
20010828011 |
4418 |
T-C |
noncod |
MT-TM |
Sporadic Parathyroid Adenoma |
- |
20100804228 |
4418 |
T-C |
tRNA |
MT-TM |
|
|
20100804229 |
4435 |
A-G |
tRNA |
MT-TM |
|
|
20100804230 |
4454 |
T-C |
tRNA |
MT-TM |
|
|
20100804231 |
4491 |
G-A |
V-I |
MT-ND2 |
|
|
20100804232 |
4501 |
C-T |
S-F |
MT-ND2 |
|
|
20061030003 |
4505 |
C-T |
syn |
MT-ND2 |
Huntington Disease-Like 2 |
south African Mixed Ancestry |
20040713002 |
4510 |
T-G |
F-C |
MT-ND2 |
Oral Cancer |
Asian |
20091229005 |
4512 |
G-A |
A-T |
MT-ND2 |
Breast Cancer |
Caucasian |
20100804233 |
4529 |
A-T |
syn |
MT-ND2 |
|
|
20120618004 |
4539 |
T-A |
S-T |
MT-ND2 |
LHON |
Iranian |
20100804234 |
4550 |
T-C |
syn |
MT-ND2 |
|
|
20100804235 |
4553 |
T-C |
syn |
MT-ND2 |
|
|
20100804236 |
4561 |
T-C |
V-A |
MT-ND2 |
|
|
20040720010 |
4562 |
A-G |
syn |
MT-ND2 |
Breast Cancer |
Asian |
20140729012 |
4573 |
T-A |
M-K |
MT-ND2 |
CAD+T2DM |
Asian Indian |
20100804237 |
4577 |
C-T |
syn |
MT-ND2 |
|
|
20100804238 |
4580 |
G-A |
syn |
MT-ND2 |
|
|
20100804239 |
4589 |
T-C |
syn |
MT-ND2 |
|
|
20120618015 |
4596 |
G-A |
V-I |
MT-ND2 |
LHON |
Iranian |
20091229006 |
4598 |
T-C |
syn |
MT-ND2 |
Breast Cancer |
African, Amerindian |
20100125001 |
4611 |
A-G |
M-V |
MT-ND2 |
diabetes |
Tunisian |
20100804240 |
4616 |
C-T |
syn |
MT-ND2 |
|
|
20100804241 |
4622 |
T-C |
syn |
MT-ND2 |
|
|
20010828012 |
4640 |
C-A |
I-M |
MT-ND2 |
Sporadic Parathyroid Adenoma |
- |
20100804242 |
4640 |
C-A |
I-M |
MT-ND2 |
|
|
20100804243 |
4643 |
G-A |
syn |
MT-ND2 |
|
|
20100804244 |
4646 |
T-C |
syn |
MT-ND2 |
|
|
20100804245 |
4659 |
G-A |
A-T |
MT-ND2 |
|
|
20100804246 |
4676 |
C-T |
syn |
MT-ND2 |
|
|
20100804247 |
4688 |
T-C |
syn |
MT-ND2 |
|
|
20100804248 |
4703 |
T-C |
syn |
MT-ND2 |
|
|
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 |
|
|
20110801005 |
4730 |
C-T |
syn |
MT-ND2 |
NORMAL |
ASIAN |
20100804253 |
4732 |
A-G |
N-S |
MT-ND2 |
|
|
20100804254 |
4733 |
T-C |
syn |
MT-ND2 |
|
|
20050813002 |
4734 |
A-G |
T-A |
MT-ND2 |
Normal |
Arabs |
20100804255 |
4736 |
T-C |
syn |
MT-ND2 |
|
|
20100804256 |
4739 |
C-T |
syn |
MT-ND2 |
|
|
20100804257 |
4745 |
A-G |
syn |
MT-ND2 |
|
|
20100804258 |
4748 |
C-T |
syn |
MT-ND2 |
|
|
20100804259 |
4754 |
A-C |
syn |
MT-ND2 |
|
|
20091229007 |
4755 |
T-C |
syn |
MT-ND2 |
Breast Cancer |
Africain |
20100804260 |
4763 |
C-T |
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 |
|
|
20100804262 |
4770 |
G-T |
A-S |
MT-ND2 |
|
|
20140730001 |
4771 |
C-G |
A-G |
MT-ND2 |
CAD+T2DM |
Asian Indian |
20100804263 |
4772 |
T-C |
syn |
MT-ND2 |
|
|
20100804264 |
4774 |
T-C |
M-T |
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 |
|
|
20100804268 |
4812 |
G-C |
V-L |
MT-ND2 |
|
|
20100804269 |
4817 |
A-G |
syn |
MT-ND2 |
|
|
20000825003 |
4820 |
G-A |
syn |
MT-ND2 |
Pancreatic Cancer |
Caucasian |
20100804270 |
4820 |
G-A |
syn |
MT-ND2 |
|
|
20100804271 |
4823 |
T-C |
syn |
MT-ND2 |
|
|
20070724001 |
4842 |
A-G |
T-A |
MT-ND2 |
Leigh Syndrome |
Caucasian/Africain |
20100804272 |
4843 |
C-T |
T-M |
MT-ND2 |
|
|
20100804273 |
4856 |
T-C |
syn |
MT-ND2 |
|
|
20070724003 |
4859 |
T-C |
syn |
MT-ND2 |
Leigh Syndrome |
Caucasian/Africain |
20100804274 |
4898 |
C-T |
syn |
MT-ND2 |
|
|
20050809002 |
4904 |
C-A |
I-M |
MT-ND2 |
Normal |
Arabs |
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 |
|
|
20100804276 |
4924 |
G-A |
S-N |
MT-ND2 |
|
|
20140731001 |
4927 |
T-C |
L-P |
MT-ND2 |
CAD |
Asian Indian |
20100804277 |
4928 |
T-C |
syn |
MT-ND2 |
|
|
20120618006 |
4932 |
C-A |
L-I |
MT-ND2 |
LHON |
Iranian |
20100804278 |
4936 |
C-T |
T-I |
MT-ND2 |
|
|
20120618002 |
4941 |
T-A |
S-T |
MT-ND2 |
LHON |
Iranian |
20100804279 |
4946 |
C-T |
syn |
MT-ND2 |
|
|
20100804280 |
4961 |
A-G |
syn |
MT-ND2 |
|
|
20100804281 |
4965 |
A-G |
S-G |
MT-ND2 |
|
|
20040720014 |
4973 |
T-C |
syn |
MT-ND2 |
Breast Cancer |
Caucasian |
20100804282 |
4976 |
A-G |
syn |
MT-ND2 |
|
|
20000825004 |
4977 |
T-C |
syn |
MT-ND2 |
Pancreatic Cancer |
Caucasian |
20100804283 |
4977 |
T-C |
syn |
MT-ND2 |
|
|
20100804284 |
4991 |
G-A |
syn |
MT-ND2 |
|
|
20000825011 |
5004 |
T-C |
syn |
MT-ND2 |
Pancreatic Cancer |
Caucasian |
20100804285 |
5004 |
T-C |
syn |
MT-ND2 |
|
|
20140731002 |
5015 |
C-T |
syn |
MT-ND2 |
CAD |
Asian Indian |
20100804286 |
5021 |
T-C |
syn |
MT-ND2 |
|
|
20100804287 |
5024 |
C-T |
syn |
MT-ND2 |
|
|
20010424003 |
5026 |
A-G |
H-R |
MT-ND2 |
Sporadic Parathyroid Adenoma |
- |
20100804288 |
5029 |
T-C |
M-T |
MT-ND2 |
|
|
19990316013 |
5036 |
A-G |
syn |
MT-ND2 |
- |
- |
20100804289 |
5036 |
A-G |
syn |
MT-ND2 |
|
|
20100804290 |
5038 |
T-G |
M-Ter |
MT-ND2 |
|
|
20100804291 |
5041 |
T-G |
M-Ter |
MT-ND2 |
|
|
19990316014 |
5046 |
G-A |
V-I |
MT-ND2 |
- |
- |
20100804292 |
5046 |
G-A |
V-I |
MT-ND2 |
|
|
20100804293 |
5051 |
A-G |
syn |
MT-ND2 |
|
|
19990316015 |
5054 |
G-A |
syn |
MT-ND2 |
- |
- |
20100804294 |
5054 |
G-A |
syn |
MT-ND2 |
|
|
20100804295 |
5063 |
T-C |
syn |
MT-ND2 |
|
|
20091229008 |
5069 |
A-T |
M-I |
MT-ND2 |
Breast Cancer |
Africain |
20100804296 |
5074 |
T-C |
I-T |
MT-ND2 |
|
|
20110801002 |
5082 |
T-C |
syn |
MT-ND2 |
Hearing Impairment and Diabetes |
ASIAN |
20091229009 |
5087 |
T-C |
syn |
MT-ND2 |
Breast Cancer |
Africain |
20091229010 |
5096 |
T-C |
syn |
MT-ND2 |
Breast Cancer |
Africain |
20100804297 |
5108 |
T-C |
syn |
MT-ND2 |
|
|
20110503013 |
5117 |
C-T |
syn |
MT-ND2 |
Congenital Non-syndromic Deafness |
|
20100804298 |
5124 |
C-A |
L-I |
MT-ND2 |
|
|
20100804299 |
5128 |
A-G |
N-S |
MT-ND2 |
|
|
20091229011 |
5134 |
A-G |
N-S |
MT-ND2 |
Breast Cancer |
Caucasian |
20091229012 |
5141 |
C-T |
syn |
MT-ND2 |
Breast Cancer |
Africain |
20091229013 |
5144 |
C-T |
syn |
MT-ND2 |
Breast Cancer |
Africain |
20100804300 |
5147 |
G-A |
syn |
MT-ND2 |
|
|
20100804301 |
5153 |
A-G |
syn |
MT-ND2 |
|
|
20100804302 |
5162 |
T-C |
syn |
MT-ND2 |
|
|
20100804303 |
5174 |
C-T |
syn |
MT-ND2 |
|
|
20100804304 |
5177 |
G-A |
syn |
MT-ND2 |
|
|
20010301002 |
5198 |
A-G |
syn |
MT-ND2 |
- |
Caucasian |
20100804305 |
5198 |
A-G |
syn |
MT-ND2 |
|
|
20100804306 |
5201 |
T-C |
syn |
MT-ND2 |
|
|
20100804307 |
5206 |
C-T |
S-F |
MT-ND2 |
|
|
20100804308 |
5213 |
C-T |
syn |
MT-ND2 |
|
|
20120124002 |
5213 |
|
|
|
Normal |
Indonesian |
20120124003 |
5213 |
C-G |
syn |
MT-ND2 |
Normal |
Indonesian |
20110503014 |
5225 |
A-G |
syn |
MT-ND2 |
Congenital Non-syndromic Deafness |
|
20100804309 |
5231 |
G-A |
syn |
MT-ND2 |
|
|
20100804310 |
5232 |
C-A |
P-T |
MT-ND2 |
|
|
20100804311 |
5237 |
G-A |
syn |
MT-ND2 |
|
|
20100804312 |
5240 |
A-G |
syn |
MT-ND2 |
|
|
20100804313 |
5250 |
T-C |
syn |
MT-ND2 |
|
|
20100804314 |
5262 |
G-A |
A-T |
MT-ND2 |
|
|
20050809004 |
5263 |
C-T |
A-V |
MT-ND2 |
Normal |
Arabs |
20100804315 |
5277 |
T-C |
F-L |
MT-ND2 |
|
|
20040720015 |
5285 |
A-G |
syn |
MT-ND2 |
Breast Cancer |
Caucasian |
20091229014 |
5300 |
C-T |
syn |
MT-ND2 |
Breast Cancer |
Africain |
20100804316 |
5301 |
A-G |
I-V |
MT-ND2 |
|
|
20120907001 |
5307 |
|
|
|
|
European |
20051007002 |
5315 |
A-G |
syn |
MT-ND2 |
Encephalomyopathy |
Caucasian |
20100804317 |
5315 |
A-G |
syn |
MT-ND2 |
|
|
20100804318 |
5319 |
A-G |
T-A |
MT-ND2 |
|
|
20100804319 |
5322 |
A-C |
I-L |
MT-ND2 |
|
|
20100804320 |
5339 |
C-A |
syn |
MT-ND2 |
|
|
20000825015 |
5348 |
C-T |
syn |
MT-ND2 |
Pancreatic Cancer |
Caucasian |
20100804321 |
5351 |
A-G |
syn |
MT-ND2 |
|
|
20040317001 |
5360 |
C-T |
syn |
MT-ND2 |
Normal |
Saudi Arab |
20100804322 |
5360 |
C-T |
syn |
MT-ND2 |
|
|
20091229015 |
5372 |
A-G |
syn |
MT-ND2 |
Breast Cancer |
Africain |
20100804323 |
5375 |
C-T |
syn |
MT-ND2 |
|
|
20100804324 |
5378 |
A-G |
syn |
MT-ND2 |
|
|
19990316016 |
5390 |
A-G |
syn |
MT-ND2 |
- |
- |
20100804325 |
5390 |
A-G |
syn |
MT-ND2 |
|
|
19990316017 |
5393 |
T-C |
syn |
MT-ND2 |
- |
- |
20100804326 |
5393 |
T-C |
syn |
MT-ND2 |
|
|
20100804327 |
5414 |
A-G |
syn |
MT-ND2 |
|
|
20091229016 |
5420 |
T-C |
syn |
MT-ND2 |
Breast Cancer |
Amerindian |
20100804328 |
5423 |
A-G |
syn |
MT-ND2 |
|
|
20100804329 |
5426 |
T-C |
syn |
MT-ND2 |
|
|
20080520001 |
5432 |
A-G |
syn |
MT-ND2 |
Ptosis, eye pain |
Asian |
20100804330 |
5437 |
C-T |
T-I |
MT-ND2 |
|
|
20100804331 |
5442 |
T-C |
F-L |
MT-ND2 |
|
|
20100804332 |
5450 |
C-T |
syn |
MT-ND2 |
|
|
20100804333 |
5452 |
C-T |
T-M |
MT-ND2 |
|
|
20070724004 |
5453 |
A-G |
syn |
MT-ND2 |
Leigh Syndrome |
Caucasian/Africain |
20140214016 |
5459 |
C-T |
I-I |
MT-ND2 |
|
|
20050813016 |
5460 |
G-A |
A-T |
MT-ND2 |
Normal |
Arabs |
20100804334 |
5460 |
G-A |
A-T |
MT-ND2 |
|
|
20100804335 |
5463 |
C-T |
L-F |
MT-ND2 |
|
|
20100804336 |
5465 |
T-C |
syn |
MT-ND2 |
|
|
20010301004 |
5471 |
G-A |
syn |
MT-ND2 |
- |
Caucasian |
20100804337 |
5471 |
G-A |
syn |
MT-ND2 |
|
|
20100804338 |
5477 |
C-T |
syn |
MT-ND2 |
|
|
19990316018 |
5485 |
T-C |
I-T |
MT-ND2 |
- |
- |
20100804339 |
5492 |
T-C |
syn |
MT-ND2 |
|
|
20100804340 |
5495 |
T-C |
syn |
MT-ND2 |
|
|
20100804341 |
5496 |
A-G |
M-V |
MT-ND2 |
|
|
20100804342 |
5501 |
A-G |
syn |
MT-ND2 |
|
|
20100804343 |
5504 |
A-T |
M-I |
MT-ND2 |
|
|
20100804344 |
5508 |
T-C |
syn |
MT-ND2 |
|
|
20100804345 |
5515 |
A-G |
non-coding |
MT-TW |
|
|
20070724005 |
5523 |
T-G |
non-coding |
MT-TW |
Leigh Syndrome |
Caucasian/Africain |
20100804346 |
5527 |
A-G |
non-coding |
MT-TW |
|
|
20100804347 |
5553 |
T-C |
non-coding |
MT-TW |
|
|
20070724006 |
5556 |
G-A |
non-coding |
MT-TW |
Leigh Syndrome |
Caucasian/Africain |
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 |
20100804349 |
5580 |
T-C |
non-coding |
MT-NC3 |
|
|
20100804350 |
5581 |
A-G |
non-coding |
MT-NC3 |
|
|
20100804351 |
5583 |
C-T |
non-coding |
MT-NC3 |
|
|
20080520003 |
5585 |
G-A |
noncod |
MT-NC3 |
Ophthalmoparesis, single eye ptosis |
Asian |
20100804352 |
5585 |
G-A |
non-coding |
MT-NC3 |
|
|
20100804353 |
5586 |
C-T |
non-coding |
MT-NC3 |
|
|
20100804354 |
5592 |
A-G |
tRNA |
MT-TA |
|
|
20070724008 |
5618 |
T-G |
tRNA |
MT-TA |
Leigh Syndrome |
Caucasian/Africain |
20100804355 |
5628 |
T-C |
tRNA |
MT-TA |
|
|
20100804356 |
5633 |
C-T |
tRNA |
MT-TA |
|
|
19990316019 |
5655 |
T-C |
noncod |
MT-TA |
- |
- |
20100804357 |
5655 |
T-C |
tRNA |
MT-TA |
|
|
20100804358 |
5656 |
A-G |
non-coding |
MT-NC4 |
|
|
20110302011 |
5743 |
C-del |
non-coding |
MT-OLR |
combined complex I + IV deficiency |
|
20110801007 |
5743 |
C-G |
non-coding |
MT-OLR |
Hearing Impairment |
ASIAN |
20100804359 |
5746 |
G-A |
non-coding |
MT-OLR |
|
|
20110302012 |
5747 |
A-G |
non-coding |
MT-OLR |
combined complex I + IV deficiency |
|
20100804360 |
5773 |
G-A |
tRNA |
MT-TC |
|
|
20100804361 |
5774 |
T-C |
tRNA |
MT-TC |
|
|
20100804362 |
5785 |
T-C |
tRNA |
MT-TC |
|
|
20100804363 |
5788 |
T-C |
tRNA |
MT-TC |
|
|
20140218001 |
5800 |
A-G |
tRNA |
MT-TC |
Kallmann Syndrome |
Han Chinese |
20100804364 |
5802 |
T-C |
tRNA |
MT-TC |
|
|
20120907008 |
5810 |
|
|
|
|
European |
20100804365 |
5814 |
T-C |
tRNA |
MT-TC |
|
|
20100804366 |
5817 |
C-T |
tRNA |
MT-TC |
|
|
20100804367 |
5821 |
G-A |
tRNA |
MT-TC |
|
|
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 |
|
|
20110302013 |
5839 |
C-T |
non-coding |
MT-TY |
complex I deficiency |
|
20100804370 |
5840 |
C-T |
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 |
|
|
20100804372 |
5898 |
C-A |
non-coding |
MT-NC5 |
|
|
20050919019 |
5913 |
G-A |
D-N |
MT-CO1 |
Normal |
Arabs |
20100804373 |
5913 |
G-A |
D-N |
MT-CO1 |
|
|
20100804374 |
5918 |
T-C |
syn |
MT-CO1 |
|
|
20100804375 |
5951 |
A-G |
syn |
MT-CO1 |
|
|
20100804376 |
5973 |
G-A |
A-T |
MT-CO1 |
|
|
20100804377 |
5979 |
G-A |
A-T |
MT-CO1 |
|
|
20050919020 |
5981 |
T-C |
syn |
MT-CO1 |
Normal |
Arabs |
20100804378 |
5985 |
G-A |
V-I |
MT-CO1 |
|
|
20100804379 |
5990 |
A-G |
syn |
MT-CO1 |
|
|
20100804380 |
5999 |
T-C |
syn |
MT-CO1 |
|
|
20100804381 |
6023 |
G-A |
syn |
MT-CO1 |
|
|
20010828013 |
6026 |
G-A |
syn |
MT-CO1 |
Sporadic Parathyroid Adenoma |
- |
20050809005 |
6040 |
A-G |
N-S |
MT-CO1 |
Normal |
Arabs |
20100804382 |
6040 |
A-G |
N-S |
MT-CO1 |
|
|
19990303003 |
6045 |
C-T |
syn |
MT-CO1 |
Hearing Loss |
Caucasian |
20100804383 |
6045 |
C-T |
syn |
MT-CO1 |
|
|
20100804384 |
6047 |
A-G |
syn |
MT-CO1 |
|
|
20090129001 |
6060 |
A-G |
I-V |
MT-CO1 |
COPD |
Caucasian |
20100804385 |
6071 |
T-C |
syn |
MT-CO1 |
|
|
20100804386 |
6080 |
A-G |
syn |
MT-CO1 |
|
|
20100804387 |
6092 |
T-C |
syn |
MT-CO1 |
|
|
20090129002 |
6140 |
C-G |
syn |
MT-CO1 |
COPD |
Caucasian |
20110503015 |
6140 |
C-A |
syn |
MT-CO1 |
Congenital Non-syndromic Deafness |
|
20090529003 |
6146 |
A-G |
syn |
MT-CO1 |
Infertility |
Africain/caucasian |
20100804388 |
6146 |
A-G |
syn |
MT-CO1 |
|
|
20100804389 |
6150 |
G-A |
V-I |
MT-CO1 |
|
|
19990316020 |
6152 |
T-C |
syn |
MT-CO1 |
- |
- |
20100804390 |
6152 |
T-C |
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 |
|
20100804392 |
6167 |
T-C |
syn |
MT-CO1 |
|
|
20100804393 |
6176 |
T-C |
syn |
MT-CO1 |
|
|
20090129003 |
6179 |
G-A |
syn |
MT-CO1 |
COPD |
Caucasian |
20100804394 |
6182 |
G-A |
syn |
MT-CO1 |
|
|
20110503016 |
6188 |
C-T |
syn |
MT-CO1 |
Congenital Non-syndromic Deafness |
|
20110504004 |
6188 |
C-A |
syn |
MT-CO1 |
INFERTILITY |
Africain |
20090529002 |
6216 |
T-C |
L1-L2 |
MT-CO1 |
Infertility |
Africain/caucasian |
20100804395 |
6221 |
T-C |
syn |
MT-CO1 |
|
|
20100930001 |
6221 |
T-A |
syn |
MT-CO1 |
infertility |
African |
20140520001 |
6221 |
T-A |
Syn |
MT-CO1 |
infertile |
|
20100804396 |
6227 |
T-C |
syn |
MT-CO1 |
|
|
20140217018 |
6228 |
C-T |
L-F |
MT-CO1 |
sCJD |
Han Chinese |
20100804397 |
6237 |
C-A |
L-M |
MT-CO1 |
|
|
20100804398 |
6239 |
G-A |
syn |
MT-CO1 |
|
|
20100804399 |
6249 |
G-A |
A-T |
MT-CO1 |
|
|
20100804400 |
6257 |
G-A |
syn |
MT-CO1 |
|
|
20100804401 |
6260 |
G-A |
syn |
MT-CO1 |
|
|
20100804402 |
6261 |
G-A |
A-T |
MT-CO1 |
|
|
20100804403 |
6267 |
G-A |
A-T |
MT-CO1 |
|
|
20100804404 |
6272 |
A-T |
syn |
MT-CO1 |
|
|
20100804405 |
6275 |
A-G |
syn |
MT-CO1 |
|
|
20100804406 |
6284 |
A-G |
syn |
MT-CO1 |
|
|
20100804407 |
6285 |
G-A |
V-I |
MT-CO1 |
|
|
20110801003 |
6290 |
C-T |
syn |
MT-CO1 |
NORMAL |
ASIAN |
20100804408 |
6293 |
T-C |
syn |
MT-CO1 |
|
|
20101004001 |
6296 |
C-A |
syn |
MT-CO1 |
|
|
20140520002 |
6296 |
C-A |
Syn |
MT-CO1 |
infertile |
|
20090129004 |
6299 |
A-G |
syn |
MT-CO1 |
COPD |
Caucasian |
20100804409 |
6299 |
A-G |
syn |
MT-CO1 |
|
|
20100804410 |
6317 |
C-T |
syn |
MT-CO1 |
|
|
20100804411 |
6329 |
C-T |
syn |
MT-CO1 |
|
|
20030918001 |
6338 |
A-G |
syn |
MT-CO1 |
Liver Cancer |
Asian |
20100804412 |
6340 |
C-T |
T-I |
MT-CO1 |
|
|
20100804413 |
6351 |
T-C |
syn |
MT-CO1 |
|
|
20100804414 |
6365 |
T-C |
syn |
MT-CO1 |
|
|
20100804415 |
6366 |
G-A |
V-I |
MT-CO1 |
|
|
20100804416 |
6371 |
C-T |
syn |
MT-CO1 |
|
|
20090129005 |
6383 |
G-A |
syn |
MT-CO1 |
COPD |
Caucasian |
20100804417 |
6383 |
G-A |
syn |
MT-CO1 |
|
|
20040210010 |
6386 |
C-T |
syn |
MT-CO1 |
NAION |
Arabs |
20100804418 |
6392 |
T-C |
syn |
MT-CO1 |
|
|
20090129006 |
6410 |
C-T |
syn |
MT-CO1 |
COPD |
Caucasian |
20110204001 |
6416 |
A-G |
syn |
MT-CO1 |
sensorimotor neuropathy, myopathy and hearing loss |
Korean |
20100804419 |
6425 |
T-C |
syn |
MT-CO1 |
|
|
20100804420 |
6446 |
G-A |
syn |
MT-CO1 |
|
|
20100804421 |
6455 |
C-T |
syn |
MT-CO1 |
|
|
20100804422 |
6464 |
C-A |
syn |
MT-CO1 |
|
|
20100804423 |
6465 |
G-A |
V-I |
MT-CO1 |
|
|
20000825005 |
6473 |
C-T |
syn |
MT-CO1 |
Pancreatic Cancer |
Caucasian |
20100804424 |
6473 |
C-T |
syn |
MT-CO1 |
|
|
20100804425 |
6480 |
G-A |
V-I |
MT-CO1 |
|
|
20100804426 |
6489 |
C-A |
L-I |
MT-CO1 |
|
|
20120312001 |
6498 |
|
|
|
Hearing loss and optic atrophy |
Caucasian/Africain |
20100804427 |
6518 |
C-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 |
20100804428 |
6527 |
A-G |
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 |
|
|
20010828014 |
6570 |
G-T |
A-S |
MT-CO1 |
Sporadic Parathyroid Adenoma |
- |
20140730003 |
6576 |
G-A |
G-Term |
MT-CO1 |
CAD+T2DM |
Asian Indian |
20100804434 |
6599 |
A-G |
syn |
MT-CO1 |
|
|
20101004003 |
6614 |
T-C |
syn |
MT-CO1 |
INFERTILITY |
Africain |
20140520004 |
6614 |
T-C |
Syn |
MT-CO1 |
infertile |
|
20100804435 |
6617 |
C-T |
syn |
MT-CO1 |
|
|
20100804436 |
6620 |
T-C |
syn |
MT-CO1 |
|
|
20100804437 |
6629 |
A-G |
syn |
MT-CO1 |
|
|
20100804438 |
6632 |
T-C |
syn |
MT-CO1 |
|
|
20060515002 |
6641 |
T-A |
syn |
MT-CO1 |
Progeria |
Caucasian |
20010828015 |
6656 |
C-T |
syn |
MT-CO1 |
Sporadic Parathyroid Adenoma |
- |
19990316022 |
6663 |
A-G |
I-V |
MT-CO1 |
- |
- |
20100804439 |
6663 |
A-G |
I-V |
MT-CO1 |
|
|
20100804440 |
6665 |
C-T |
syn |
MT-CO1 |
|
|
20100804441 |
6671 |
T-C |
syn |
MT-CO1 |
|
|
20140730004 |
6677 |
A-G |
syn |
MT-CO1 |
CAD+T2DM |
Asian Indian |
20100804442 |
6680 |
T-C |
syn |
MT-CO1 |
|
|
20100804443 |
6710 |
A-G |
syn |
MT-CO1 |
|
|
20100804444 |
6716 |
A-G |
syn |
MT-CO1 |
|
|
20100804445 |
6719 |
T-C |
syn |
MT-CO1 |
|
|
20100804446 |
6722 |
G-A |
syn |
MT-CO1 |
|
|
20100804447 |
6725 |
C-A |
syn |
MT-CO1 |
|
|
20100804448 |
6734 |
G-A |
syn |
MT-CO1 |
|
|
20100804449 |
6752 |
A-G |
syn |
MT-CO1 |
|
|
20100804450 |
6755 |
G-A |
syn |
MT-CO1 |
|
|
20100804451 |
6758 |
T-C |
syn |
MT-CO1 |
|
|
20100804452 |
6776 |
T-C |
syn |
MT-CO1 |
|
|
20100804453 |
6791 |
A-G |
syn |
MT-CO1 |
|
|
20100804454 |
6803 |
C-T |
syn |
MT-CO1 |
|
|
20100804455 |
6806 |
A-G |
syn |
MT-CO1 |
|
|
20101004004 |
6806 |
A-G |
syn |
MT-CO1 |
INFERTILITY |
Africain |
19990316023 |
6827 |
T-C |
syn |
MT-CO1 |
- |
- |
20100804456 |
6827 |
T-C |
syn |
MT-CO1 |
|
|
20100804457 |
6830 |
C-A |
syn |
MT-CO1 |
|
|
20100804458 |
6845 |
C-T |
syn |
MT-CO1 |
|
|
20120124004 |
6863 |
A-G |
syn |
MT-CO1 |
Normal |
Indonesian |
20100804459 |
6887 |
C-T |
syn |
MT-CO1 |
|
|
20100804460 |
6899 |
G-A |
syn |
MT-CO1 |
|
|
20100804461 |
6911 |
T-C |
syn |
MT-CO1 |
|
|
20100804462 |
6915 |
G-A |
V-M |
MT-CO1 |
|
|
20100804463 |
6929 |
A-G |
syn |
MT-CO1 |
|
|
20100804464 |
6956 |
T-C |
syn |
MT-CO1 |
|
|
19990316024 |
6989 |
A-G |
syn |
MT-CO1 |
- |
- |
20100804465 |
6989 |
A-G |
syn |
MT-CO1 |
|
|
20121022001 |
6996 |
|
|
|
control/normal/healthy |
Caucasian/Middle European |
20100804466 |
7007 |
C-T |
syn |
MT-CO1 |
|
|
20100804467 |
7013 |
G-A |
syn |
MT-CO1 |
|
|
20100804468 |
7022 |
T-C |
syn |
MT-CO1 |
|
|
20100804469 |
7028 |
C-T |
syn |
MT-CO1 |
|
|
20100804470 |
7055 |
A-G |
syn |
MT-CO1 |
|
|
20000402001 |
7058 |
T-C |
syn |
MT-CO1 |
Leigh Syndrome |
Caucasian |
20100804471 |
7080 |
T-C |
F-L |
MT-CO1 |
|
|
20100804472 |
7094 |
T-C |
syn |
MT-CO1 |
|
|
20100804473 |
7119 |
G-A |
D-N |
MT-CO1 |
|
|
20040713003 |
7142 |
T-C |
syn |
MT-CO1 |
Oral Cancer |
Asian |
19990316025 |
7146 |
A-G |
T-A |
MT-CO1 |
- |
- |
20100804474 |
7146 |
A-G |
T-A |
MT-CO1 |
|
|
20100804475 |
7151 |
C-T |
syn |
MT-CO1 |
|
|
20120907010 |
7153 |
|
|
|
|
European |
19990316026 |
7158 |
A-G |
I-V |
MT-CO1 |
- |
- |
19990316027 |
7175 |
T-C |
syn |
MT-CO1 |
- |
- |
20100804476 |
7175 |
T-C |
syn |
MT-CO1 |
|
|
20100804477 |
7184 |
A-G |
syn |
MT-CO1 |
|
|
20100804478 |
7202 |
A-G |
syn |
MT-CO1 |
|
|
20010828016 |
7220 |
T-C |
syn |
MT-CO1 |
Sporadic Parathyroid Adenoma |
- |
20100804479 |
7220 |
T-C |
syn |
MT-CO1 |
|
|
20100804480 |
7226 |
G-A |
syn |
MT-CO1 |
|
|
20100804481 |
7241 |
A-G |
syn |
MT-CO1 |
|
|
20100804482 |
7245 |
A-G |
T-A |
MT-CO1 |
|
|
19990316028 |
7256 |
C-T |
syn |
MT-CO1 |
- |
- |
20100804483 |
7256 |
C-T |
syn |
MT-CO1 |
|
|
20100804484 |
7257 |
A-G |
I-V |
MT-CO1 |
|
|
20100804485 |
7258 |
T-C |
I-T |
MT-CO1 |
|
|
20100804486 |
7259 |
C-T |
syn |
MT-CO1 |
|
|
20100804487 |
7269 |
G-A |
V-M |
MT-CO1 |
|
|
20100804488 |
7270 |
T-C |
V-A |
MT-CO1 |
|
|
19990316029 |
7274 |
C-T |
syn |
MT-CO1 |
- |
- |
20100804489 |
7274 |
C-T |
syn |
MT-CO1 |
|
|
20050813004 |
7278 |
T-C |
F-L |
MT-CO1 |
Normal |
Arabs |
20100804490 |
7278 |
T-C |
F-L |
MT-CO1 |
|
|
20110503017 |
7280 |
C-T |
syn |
MT-CO1 |
Congenital Non-syndromic Deafness |
|
20100804491 |
7298 |
A-G |
syn |
MT-CO1 |
|
|
20100804492 |
7316 |
G-A |
syn |
MT-CO1 |
|
|
20040317010 |
7322 |
A-G |
syn |
MT-CO1 |
Normal |
Saudi Arab |
20100804493 |
7337 |
G-A |
syn |
MT-CO1 |
|
|
20100804494 |
7340 |
G-A |
syn |
MT-CO1 |
|
|
20100804495 |
7356 |
G-A |
V-M |
MT-CO1 |
|
|
20040317002 |
7364 |
A-G |
syn |
MT-CO1 |
Normal |
Saudi Arab |
20100804496 |
7364 |
A-G |
syn |
MT-CO1 |
|
|
20080117002 |
7372 |
T-C |
M-T |
MT-CO1 |
Deafness |
Caucasian/Africain |
20100804497 |
7379 |
G-A |
syn |
MT-CO1 |
|
|
20110503018 |
7379 |
G-A |
syn |
MT-CO1 |
Congenital Non-syndromic Deafness |
|
20100804498 |
7385 |
A-G |
syn |
MT-CO1 |
|
|
19990316030 |
7389 |
T-C |
Y-H |
MT-CO1 |
- |
- |
20100804499 |
7389 |
T-C |
Y-H |
MT-CO1 |
|
|
20100804500 |
7403 |
A-G |
syn |
MT-CO1 |
|
|
20100804501 |
7424 |
A-G |
syn |
MT-CO1 |
|
|
20100804502 |
7436 |
A-G |
syn |
MT-CO1 |
|
|
20140214013 |
7453 |
G-A |
tRNA |
MT-TS1 |
Melas-like |
|
20110722001 |
7455 |
A-G |
tRNA |
MT-TS1 |
HEARING IMPAIRED |
ASIAN |
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 |
|
|
20120110004 |
7498 |
|
|
|
Cardiomyopathy |
Caucasian/Africain |
20120110003 |
7502 |
|
|
|
Cardiomyopathy |
Caucasian/Africain |
20050809006 |
7521 |
G-T |
tRNA |
MT-TD |
Normal |
Arabs |
20100804505 |
7521 |
G-A |
tRNA |
MT-TD |
|
|
20100804506 |
7547 |
T-C |
tRNA |
MT-TD |
|
|
20100804507 |
7559 |
A-G |
tRNA |
MT-TD |
|
|
20110302023 |
7570 |
A-G |
tRNA |
MT-TD |
complex I deficiency |
|
20110504001 |
7572 |
T-C |
tRNA |
MT-TD |
INFERTILITY |
Africain |
20100804508 |
7606 |
A-G |
syn |
MT-CO2 |
|
|
20100804509 |
7624 |
T-C |
syn |
MT-CO2 |
|
|
20100804510 |
7645 |
T-C |
syn |
MT-CO2 |
|
|
20050809007 |
7646 |
A-C |
I-L |
MT-CO2 |
Normal |
Arabs |
20100804511 |
7673 |
A-G |
I-V |
MT-CO2 |
|
|
20100804512 |
7691 |
T-C |
F-L |
MT-CO2 |
|
|
20100804513 |
7697 |
G-A |
V-I |
MT-CO2 |
|
|
20041210003 |
7702 |
G-A |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian-Marathi |
20100804514 |
7705 |
T-C |
syn |
MT-CO2 |
|
|
20040713008 |
7711 |
T-C |
syn |
MT-CO2 |
Esophageal Cancer |
Asian |
20100804515 |
7711 |
T-C |
syn |
MT-CO2 |
|
|
20100804516 |
7715 |
C-T |
syn |
MT-CO2 |
|
|
20100906001 |
7717 |
A-G |
syn |
MT-CO2 |
Breast cancer |
|
20100804517 |
7721 |
C-T |
L-F |
MT-CO2 |
|
|
20100804518 |
7729 |
A-G |
L-F |
MT-CO2 |
|
|
20100804519 |
7735 |
A-G |
syn |
MT-CO2 |
|
|
20100804520 |
7738 |
T-C |
syn |
MT-CO2 |
|
|
20100804521 |
7741 |
T-C |
syn |
MT-CO2 |
|
|
20111230006 |
7746 |
A-G |
N-S |
MT-CO2 |
non-syndromic hearing impairment |
Caucasian |
20100804522 |
7754 |
G-A |
D-N |
MT-CO2 |
|
|
20041210013 |
7762 |
G-A |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian |
20130303001 |
7762 |
G-A |
syn |
MT-CO2 |
Normal |
African |
20110503019 |
7763 |
G-A |
E-K |
MT-CO2 |
Congenital Non-syndromic Deafness |
|
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 |
|
|
20060130003 |
7774 |
C-T |
syn |
MT-CO2 |
Encephalopathy |
Caucasian |
20140721002 |
7775 |
A-G |
syn |
MT-CO2 |
Normal |
African |
20100804527 |
7789 |
G-A |
syn |
MT-CO2 |
|
|
20111230005 |
7792 |
C-T |
syn |
MT-CO2 |
non-syndromic hearing loss |
Caucasian |
20120907016 |
7798 |
|
|
|
|
European |
20100906002 |
7799 |
A-G |
I-V |
MT-CO2 |
Breast cancer |
|
20100804528 |
7805 |
G-A |
V-I |
MT-CO2 |
|
|
20140721006 |
7805 |
G-A |
V-I |
MT-CO2 |
Normal |
African |
20100906003 |
7806 |
T-A |
V-D |
MT-CO2 |
Breast cancer |
|
20100906004 |
7813 |
C-T |
syn |
MT-CO2 |
Breast cancer |
|
19990316031 |
7819 |
C-A |
syn |
MT-CO2 |
- |
- |
20140721004 |
7819 |
C-A |
syn |
MT-CO2 |
Normal |
African |
20100804529 |
7830 |
G-A |
R-H |
MT-CO2 |
|
|
20041210007 |
7837 |
T-C |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian-Marathi |
20140721005 |
7837 |
T-C |
syn |
MT-CO2 |
Normal |
African |
20041210004 |
7843 |
A-G |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian-Marathi |
20100804530 |
7849 |
C-T |
syn |
MT-CO2 |
|
|
20100804531 |
7853 |
G-A |
V-I |
MT-CO2 |
|
|
20140630002 |
7853 |
G-A |
V-I |
MT-CO2 |
Temporal lobe epilepsy with hippocampal sclerosis |
|
20140721007 |
7853 |
G-A |
V-I |
MT-CO2 |
Normal |
African |
20100804532 |
7859 |
G-A |
D-N |
MT-CO2 |
|
|
20050928001 |
7861 |
T-C |
syn |
MT-CO2 |
Encephalomyopathy |
Caucasian |
20140721008 |
7861 |
T-C |
syn |
MT-CO2 |
Normal |
African |
20060518007 |
7864 |
C-T |
syn |
MT-CO2 |
Epilepsy |
- |
20100804533 |
7864 |
C-T |
syn |
MT-CO2 |
|
|
20100804534 |
7867 |
C-T |
syn |
MT-CO2 |
|
|
20110801008 |
7885 |
T-C |
syn |
MT-CO2 |
NORMAL |
ASIAN |
20120124005 |
7894 |
A-G |
syn |
MT-CO2 |
Normal |
Indonesian |
20100804535 |
7897 |
G-A |
syn |
MT-CO2 |
|
|
20040713009 |
7910 |
G-C |
E-Q |
MT-CO2 |
Esophageal Cancer |
Asian |
20040713012 |
7912 |
G-C |
E-D |
MT-CO2 |
Esophageal Cancer |
Asian |
20140721009 |
7912 |
G-A |
syn |
MT-CO2 |
Normal |
African |
20100804536 |
7941 |
A-G |
N-S |
MT-CO2 |
|
|
20041210006 |
7954 |
T-C |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian |
20100804537 |
7960 |
A-C |
syn |
MT-CO2 |
|
|
20040713004 |
7961 |
T-C |
syn |
MT-CO2 |
Oral Cancer |
Asian |
20041210014 |
7961 |
T-C |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian |
20100804538 |
7961 |
T-C |
syn |
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 |
20100804541 |
7978 |
C-G |
syn |
MT-CO2 |
|
|
20140721011 |
7984 |
G-A |
syn |
MT-CO2 |
Normal |
African |
20140214002 |
7989 |
T-C |
L-P (Leu135Pro) |
MT-CO2 |
control |
Caucasian |
20041210012 |
7993 |
T-C |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian |
20041210008 |
7999 |
T-C |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian-Marathi |
20140721012 |
8007 |
G-A |
A-G |
MT-CO2 |
Normal |
African |
20100804542 |
8014 |
A-T |
syn |
MT-CO2 |
|
|
20140721013 |
8014 |
A-G |
syn |
MT-CO2 |
Normal |
African |
20100906006 |
8017 |
C-T |
syn |
MT-CO2 |
Breast cancer |
|
20140721014 |
8017 |
C-A |
syn |
MT-CO2 |
Normal |
African |
20100804543 |
8020 |
G-A |
syn |
MT-CO2 |
|
|
20140721015 |
8020 |
G-A |
syn |
MT-CO2 |
Normal |
African |
20100804544 |
8027 |
G-A |
A-T |
MT-CO2 |
|
|
20140721016 |
8027 |
G-A |
A-T |
MT-CO2 |
Normal |
African |
20120110006 |
8047 |
|
|
|
Cardiomyopathy |
Caucasian/Africain |
20140721017 |
8047 |
T-C |
syn |
MT-CO2 |
Normal |
African |
20100804545 |
8056 |
A-G |
syn |
MT-CO2 |
|
|
20100804546 |
8059 |
C-T |
syn |
MT-CO2 |
|
|
20100804547 |
8065 |
G-A |
syn |
MT-CO2 |
|
|
20110704003 |
8078 |
G-A |
V-I |
MT-CO2 |
non-syndromic deafness |
|
20060518001 |
8084 |
A-T |
T-A |
MT-CO2 |
Myoclonic Epilepsy |
Caucasian |
20100804548 |
8098 |
A-G |
syn |
MT-CO2 |
|
|
20100804549 |
8104 |
T-C |
syn |
MT-CO2 |
|
|
20140721018 |
8104 |
T-C |
syn |
MT-CO2 |
Normal |
African |
20110503020 |
8115 |
G-A |
G-E |
MT-CO2 |
Congenital Non-syndromic Deafness |
|
20100804550 |
8119 |
T-C |
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 |
|
|
20100804552 |
8149 |
A-G |
syn |
MT-CO2 |
|
|
20140721019 |
8152 |
G-A |
syn |
MT-CO2 |
Normal |
African |
20140721020 |
8155 |
G-A |
syn |
MT-CO2 |
Normal |
African |
20041210001 |
8158 |
A-G |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian-Bengali |
20100804553 |
8158 |
A-G |
syn |
MT-CO2 |
|
|
20100804554 |
8167 |
T-C |
syn |
MT-CO2 |
|
|
20100804555 |
8185 |
T-C |
syn |
MT-CO2 |
|
|
20100804556 |
8188 |
A-G |
syn |
MT-CO2 |
|
|
20140721021 |
8188 |
G-A |
syn |
MT-CO2 |
Normal |
African |
19990316032 |
8205 |
T-A |
M-K |
MT-CO2 |
- |
- |
20041210010 |
8206 |
G-A |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian |
20100804557 |
8206 |
G-A |
syn |
MT-CO2 |
|
|
20041210009 |
8212 |
C-T |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian-Malayali |
20070724010 |
8227 |
T-C |
syn |
MT-CO2 |
Leigh Syndrome |
Caucasian/Africain |
20080110006 |
8227 |
T-C |
syn |
MT-CO2 |
Leigh syndrome |
Caucasian |
20040608001 |
8236 |
A-G |
syn |
MT-CO2 |
Subfertile |
Caucasian |
20131120001 |
8241 |
T-G |
F-C |
MT-CO2 |
DIABETES |
Caucasian/Africain |
20100804558 |
8242 |
T-C |
syn |
MT-CO2 |
|
|
20070724011 |
8248 |
A-G |
syn |
MT-CO2 |
Leigh Syndrome |
Caucasian/Africain |
20100804559 |
8248 |
A-G |
syn |
MT-CO2 |
|
|
20041210002 |
8251 |
G-A |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian-Bengali |
20100804560 |
8251 |
G-A |
syn |
MT-CO2 |
|
|
20100804561 |
8258 |
T-C |
F-L |
MT-CO2 |
|
|
20100804562 |
8260 |
T-C |
syn |
MT-CO2 |
|
|
20100804563 |
8265 |
T-C |
L-P |
MT-CO2 |
|
|
20041210011 |
8266 |
A-T |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian-Gujarati |
20100804564 |
8269 |
G-A |
syn |
MT-CO2 |
|
|
20100804565 |
8270 |
C-T |
non-coding |
MT-NC7 |
|
|
20040607001 |
8271 |
A-G |
non-coding |
MT-NC7 |
Subfertile |
- |
20050813005 |
8271 |
A-G |
non-coding |
MT-NC7 |
Normal |
Arabs |
20100804566 |
8273 |
C-T |
non-coding |
MT-NC7 |
|
|
20100804567 |
8277 |
T-C |
non-coding |
MT-NC7 |
|
|
20100804568 |
8278 |
C-A |
non-coding |
MT-NC7 |
|
|
20100804569 |
8280 |
A-C |
non-coding |
MT-NC7 |
|
|
20100804570 |
8281 |
C-G |
non-coding |
MT-NC7 |
|
|
20100804571 |
8281 |
C-T |
non-coding |
MT-NC7 |
|
|
20100804572 |
8286 |
T-C |
non-coding |
MT-NC7 |
|
|
20100804573 |
8291 |
A-G |
non-coding |
MT-NC7 |
|
|
20100804574 |
8292 |
G-A |
non-coding |
MT-NC7 |
|
|
20100804575 |
8296 |
A-G |
tRNA |
MT-TK |
|
|
20040608002 |
8309 |
C-T |
tRNA |
MT-TK |
Subfertile |
Caucasian |
20110504002 |
8312 |
A-G |
tRNA |
MT-TK |
INFERTILITY |
Africain |
20120507001 |
8331 |
|
|
|
|
|
20100804576 |
8347 |
A-G |
tRNA |
MT-TK |
|
|
20100804577 |
8348 |
A-G |
tRNA |
MT-TK |
|
|
20040608003 |
8350 |
A-G |
tRNA |
MT-TK |
- |
Caucasian |
20070724012 |
8380 |
T-C |
syn |
MT-ATP8 |
Leigh Syndrome |
Caucasian/Africain |
20100804578 |
8380 |
T-C |
syn |
MT-ATP8 |
|
|
20040210011 |
8386 |
C-T |
syn |
MT-ATP8 |
NAION |
Arabs |
20040608004 |
8388 |
T-C |
V-A |
MT-ATP8 |
- |
Caucasian |
20100804579 |
8388 |
T-C |
V-A |
MT-ATP8 |
|
|
20060518002 |
8389 |
A-G |
syn |
MT-ATP8 |
- |
Caucasian |
20100804580 |
8392 |
G-A |
syn |
MT-ATP8 |
|
|
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 |
|
|
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 |
20100804583 |
8412 |
T-C |
M-T |
MT-ATP8 |
|
|
20110504003 |
8413 |
A-G |
syn |
MT-ATP8 |
INFERTILITY |
Africain |
20021231004 |
8414 |
C-T |
L-F |
MT-ATP8 |
MERRF |
Caucasian |
20100804584 |
8426 |
T-C |
F-L |
MT-ATP8 |
|
|
20021231005 |
8431 |
C-T |
S-L |
MT-ATP8 |
MERRF |
Caucasian |
20100804585 |
8440 |
A-G |
syn |
MT-ATP8 |
|
|
20100804586 |
8448 |
T-C |
M-T |
MT-ATP8 |
|
|
20100804587 |
8455 |
C-T |
syn |
MT-ATP8 |
|
|
20100804588 |
8458 |
A-G |
syn |
MT-ATP8 |
|
|
20060803001 |
8463 |
A-G |
Y-C |
MT-ATP8 |
Down's syndrome |
Belarusian |
20100804589 |
8468 |
C-T |
syn |
MT-ATP8 |
|
|
20100804590 |
8473 |
T-C |
syn |
MT-ATP8 |
|
|
20100804591 |
8485 |
G-A |
syn |
MT-ATP8 |
|
|
20100804592 |
8501 |
A-G |
D-N |
MT-ATP8 |
|
|
20100804593 |
8503 |
T-C |
syn |
MT-ATP8 |
|
|
20100804594 |
8508 |
A-G |
N-S |
MT-ATP8 |
|
|
20100804595 |
8512 |
A-G |
syn |
MT-ATP8 |
|
|
19990308001 |
8519 |
G-A |
E-K |
MT-ATP8 |
MELAS plus other symptoms |
- |
20100804596 |
8519 |
G-A |
E-K |
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 |
20071014001 |
8529 |
G-A |
W-Ter |
MT-ATP8 |
Apical HCM |
. |
20071014002 |
8529 |
G-A |
syn |
MT-ATP6 |
. |
. |
20060130006 |
8538 |
T-C |
syn |
MT-ATP6 |
Myopathy |
Caucasian |
20060130007 |
8538 |
T-C |
I-T |
MT-ATP8 |
Myopathy |
Caucasian |
20100804597 |
8538 |
T-C |
I-T |
MT-ATP8 |
|
|
20100804598 |
8538 |
T-C |
syn |
MT-ATP6 |
|
|
20160806002 |
8539 |
C-A |
ATP6: L-M, ATP8: I-M |
ATP8, ATP6 |
presbycusis |
Iranian |
20100804599 |
8542 |
T-C |
syn |
MT-ATP8 |
|
|
20100804600 |
8542 |
T-C |
F-L |
MT-ATP6 |
|
|
20100804601 |
8545 |
G-A |
syn |
MT-ATP8 |
|
|
20100804602 |
8545 |
G-A |
A-T |
MT-ATP6 |
|
|
20100804603 |
8557 |
G-A |
syn |
MT-ATP8 |
|
|
20100804604 |
8557 |
G-A |
A-T |
MT-ATP6 |
|
|
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 |
|
|
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 |
20100804611 |
8568 |
C-A |
S-Y |
MT-ATP8 |
|
|
20100804612 |
8568 |
C-A |
I-M |
MT-ATP6 |
|
|
20060130004 |
8573 |
G-A |
G-D |
MT-ATP6 |
Encephalopathy |
Caucasian |
20040210013 |
8577 |
A-G |
syn |
MT-ATP6 |
NAION |
Arabs |
20100804613 |
8577 |
A-G |
syn |
MT-ATP6 |
|
|
20100804614 |
8581 |
G-A |
A-T |
MT-ATP6 |
|
|
19990308004 |
8584 |
G-A |
A-T |
MT-ATP6 |
DIDMOAD |
Asian |
20050809010 |
8587 |
G-A |
V-M |
MT-ATP6 |
Normal |
Arabs |
20100804615 |
8592 |
G-A |
syn |
MT-ATP6 |
|
|
20050917001 |
8598 |
T-C |
syn |
MT-ATP6 |
Myoclonic Epilepsy |
Caucasian |
20100804616 |
8598 |
T-C |
syn |
MT-ATP6 |
|
|
20010828018 |
8602 |
T-C |
F-L |
MT-ATP6 |
Sporadic Parathyroid Adenoma |
- |
20100804617 |
8602 |
T-C |
F-L |
MT-ATP6 |
|
|
20100804618 |
8604 |
T-C |
syn |
MT-ATP6 |
|
|
20100804619 |
8614 |
T-C |
syn |
MT-ATP6 |
|
|
20100804620 |
8616 |
G-T |
L-F |
MT-ATP6 |
|
|
20100804621 |
8618 |
T-C |
I-T |
MT-ATP6 |
|
|
20100804622 |
8622 |
C-G |
syn |
MT-ATP6 |
|
|
20100804623 |
8631 |
A-G |
syn |
MT-ATP6 |
|
|
20100804624 |
8634 |
T-C |
syn |
MT-ATP6 |
|
|
20100804625 |
8639 |
T-C |
I-T |
MT-ATP6 |
|
|
20100804626 |
8645 |
A-G |
N-S |
MT-ATP6 |
|
|
20100804627 |
8648 |
G-C |
R-P |
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 |
20100804628 |
8655 |
C-T |
syn |
MT-ATP6 |
|
|
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 |
20050809011 |
8684 |
C-T |
T-I |
MT-ATP6 |
Normal |
Arabs |
20100804631 |
8684 |
C-T |
T-I |
MT-ATP6 |
|
|
20100804632 |
8696 |
T-A |
M-K |
MT-ATP6 |
|
|
20100804633 |
8697 |
G-A |
syn |
MT-ATP6 |
|
|
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 |
|
|
20100804636 |
8703 |
C-T |
syn |
MT-ATP6 |
|
|
20050609001 |
8705 |
T-C |
M-T |
MT-ATP6 |
Myopathy |
Caucasian |
20100804637 |
8705 |
T-C |
M-T |
MT-ATP6 |
|
|
20100804638 |
8706 |
A-G |
syn |
MT-ATP6 |
|
|
20100804639 |
8721 |
A-G |
syn |
MT-ATP6 |
|
|
20100804640 |
8736 |
T-C |
syn |
MT-ATP6 |
|
|
20070327001 |
8741 |
T-G |
L-R |
MT-ATP6 |
Normal |
Arabs |
20051007007 |
8750 |
T-C |
L-S |
MT-ATP6 |
Myopathy |
Caucasian |
20140630014 |
8760 |
T-C |
syn |
MT-ATP6 |
Temporal lobe epilepsy with hippocampal sclerosis |
|
20100804641 |
8763 |
T-C |
syn |
MT-ATP6 |
|
|
20100804642 |
8765 |
C-T |
A-V |
MT-ATP6 |
|
|
20100804643 |
8772 |
T-C |
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 |
20100804644 |
8818 |
C-T |
syn |
MT-ATP6 |
|
|
20100804645 |
8819 |
T-C |
L-P |
MT-ATP6 |
|
|
20090710001 |
8820 |
A-G |
syn |
MT-ATP6 |
Infertility |
Caucasian |
20100804646 |
8823 |
T-G |
syn |
MT-ATP6 |
|
|
20110801011 |
8855 |
C-T |
A-V |
MT-ATP6 |
NORMAL |
ASIAN |
19990316033 |
8857 |
G-T |
G-C |
MT-ATP6 |
- |
- |
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 |
20040210014 |
8865 |
G-A |
syn |
MT-ATP6 |
NAION |
Arabs |
20100804648 |
8865 |
G-A |
syn |
MT-ATP6 |
|
|
20050916001 |
8867 |
T-C |
I-T |
MT-ATP6 |
Myoclonic Epilepsy, bilateral ptosis |
Caucasian |
20050919033 |
8877 |
T-A |
F-L |
MT-ATP6 |
Normal |
Arabs |
20100804649 |
8887 |
A-G |
I-V |
MT-ATP6 |
|
|
20100804650 |
8895 |
T-A |
N-K |
MT-ATP6 |
|
|
20051007003 |
8901 |
A-G |
syn |
MT-ATP6 |
Encephalomyopathy |
Caucasian |
20120907013 |
8904 |
|
|
|
|
European |
20100804651 |
8920 |
G-A |
G-S |
MT-ATP6 |
|
|
20100804652 |
8931 |
A-G |
syn |
MT-ATP6 |
|
|
19990316034 |
8932 |
C-T |
P-S |
MT-ATP6 |
- |
- |
20030723001 |
8932 |
C-T |
P-S |
MT-ATP6 |
Encephalomyopathy plus other symptoms |
Caucasian |
20100804653 |
8938 |
A-G |
I-V |
MT-ATP6 |
|
|
20100804654 |
8945 |
T-C |
M-T |
MT-ATP6 |
|
|
20100804655 |
8950 |
G-A |
V-I |
MT-ATP6 |
|
|
20010828020 |
8953 |
A-G |
I-V |
MT-ATP6 |
Sporadic Parathyroid Adenoma |
- |
20120907015 |
8954 |
|
|
|
|
European |
20000825006 |
8957 |
T-C |
I-T |
MT-ATP6 |
Pancreatic Cancer |
Caucasian |
20100804656 |
8962 |
A-G |
T-A |
MT-ATP6 |
|
|
20100804657 |
8966 |
T-C |
I-T |
MT-ATP6 |
|
|
20120418001 |
8969 |
G-A |
S-N |
MT-ATP6 |
|
|
20100804658 |
8975 |
T-C |
L-P |
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 |
- |
20100804660 |
8993 |
T-G |
L-R |
MT-ATP6 |
|
|
20100804661 |
8994 |
G-A |
syn |
MT-ATP6 |
|
|
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 |
20090529005 |
9007 |
A-T |
T-S |
MT-ATP6 |
Infertility |
Africain/caucasian |
20100804664 |
9007 |
A-G |
T-A |
MT-ATP6 |
|
|
20070327005 |
9012 |
T-G |
syn |
MT-ATP6 |
Leigh Syndrome |
Arabs |
20100804665 |
9015 |
C-T |
syn |
MT-ATP6 |
|
|
20100804666 |
9022 |
G-A |
A-T |
MT-ATP6 |
|
|
20070327003 |
9024 |
A-G |
syn |
MT-ATP6 |
Normal |
Arabs |
20100804667 |
9035 |
T-C |
L-P |
MT-ATP6 |
|
|
20100804668 |
9039 |
G-A |
syn |
MT-ATP6 |
|
|
20100804669 |
9041 |
A-G |
H-R |
MT-ATP6 |
|
|
19990511001 |
9053 |
G-A |
syn |
MT-ATP6 |
Normal |
Chinese |
19991118005 |
9055 |
G-A |
A-T |
MT-ATP6 |
Subfertile |
Unknown |
20100804670 |
9055 |
G-A |
A-T |
MT-ATP6 |
|
|
20100804671 |
9055 |
G-C |
A-P |
MT-ATP6 |
|
|
20100804672 |
9056 |
C-T |
A-V |
MT-ATP6 |
|
|
20080729001 |
9058 |
A-G |
T-A |
MT-ATP6 |
Normal |
Caucasian |
20110503022 |
9061 |
C-T |
syn |
MT-ATP6 |
Congenital Non-syndromic Deafness |
|
20100804673 |
9064 |
G-A |
A-T |
MT-ATP6 |
|
|
20100804674 |
9068 |
T-C |
M-T |
MT-ATP6 |
|
|
20100804675 |
9070 |
T-G |
S-A |
MT-ATP6 |
|
|
20100804676 |
9072 |
A-G |
syn |
MT-ATP6 |
|
|
20100804677 |
9078 |
T-C |
syn |
MT-ATP6 |
|
|
20100804678 |
9093 |
A-G |
syn |
MT-ATP6 |
|
|
20100804679 |
9096 |
T-C |
syn |
MT-ATP6 |
|
|
20100804680 |
9098 |
T-C |
I-T |
MT-ATP6 |
|
|
20100804681 |
9099 |
C-A |
I-M |
MT-ATP6 |
|
|
20100804682 |
9100 |
A-G |
I-V |
MT-ATP6 |
|
|
20100804683 |
9101 |
T-G |
I-S |
MT-ATP6 |
|
|
20070612004 |
9103 |
T-C |
F-L |
MT-ATP6 |
Normal |
Saudi Arabs |
20100804684 |
9108 |
A-G |
syn |
MT-ATP6 |
|
|
20070327006 |
9111 |
T-C |
syn |
MT-ATP6 |
Leigh Syndrome |
Arabs |
20100804685 |
9115 |
A-G |
I-V |
MT-ATP6 |
|
|
20100804686 |
9117 |
T-C |
syn |
MT-ATP6 |
|
|
20100804687 |
9120 |
A-G |
syn |
MT-ATP6 |
|
|
20100804688 |
9123 |
G-A |
syn |
MT-ATP6 |
|
|
20100804689 |
9126 |
T-C |
syn |
MT-ATP6 |
|
|
20100804690 |
9128 |
T-C |
I-T |
MT-ATP6 |
|
|
20100804691 |
9129 |
C-T |
syn |
MT-ATP6 |
|
|
20100804692 |
9139 |
G-A |
A-T |
MT-ATP6 |
|
|
19991118004 |
9150 |
G-A |
syn |
MT-ATP6 |
Control |
Unknown |
19991118013 |
9150 |
A-G |
syn |
MT-ATP6 |
Control |
Unknown |
20100804693 |
9150 |
A-G |
syn |
MT-ATP6 |
|
|
20040811001 |
9152 |
T-C |
I-T |
MT-ATP6 |
- |
- |
20040811002 |
9163 |
G-A |
V-I |
MT-ATP6 |
- |
- |
20100804694 |
9165 |
T-C |
syn |
MT-ATP6 |
|
|
20100804695 |
9181 |
A-G |
S-G |
MT-ATP6 |
|
|
20040713013 |
9182 |
G-A |
S-N |
MT-ATP6 |
Esophageal Cancer |
Asian |
20090714007 |
9186 |
C-A |
syn |
MT-ATP6 |
Aminoglycoside-induced hearing loss |
Caucasian |
20100804696 |
9196 |
G-A |
D-N |
MT-ATP6 |
|
|
20120907007 |
9203 |
|
|
|
|
European |
20100804697 |
9214 |
A-G |
H-R |
MT-CO3 |
|
|
20100804698 |
9221 |
A-G |
syn |
MT-CO3 |
|
|
20100804699 |
9230 |
T-C |
syn |
MT-CO3 |
|
|
20100804700 |
9233 |
T-C |
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 |
|
|
20100804702 |
9266 |
G-A |
syn |
MT-CO3 |
|
|
20100804703 |
9275 |
A-G |
syn |
MT-CO3 |
|
|
20100804704 |
9282 |
C-T |
syn |
MT-CO3 |
|
|
20100804705 |
9287 |
G-A |
syn |
MT-CO3 |
|
|
19990323002 |
9293 |
C-T |
syn |
MT-CO3 |
Ophthalmoplegia,Deafness |
Caucasian |
20100804706 |
9296 |
C-T |
syn |
MT-CO3 |
|
|
20100804707 |
9299 |
A-G |
syn |
MT-CO3 |
|
|
20030925001 |
9300 |
G-A |
A-T |
MT-CO3 |
Myopathy |
Caucasian |
20100804708 |
9300 |
G-A |
A-T |
MT-CO3 |
|
|
20100804709 |
9301 |
C-T |
A-V |
MT-CO3 |
|
|
20100804710 |
9316 |
T-A |
F-Y |
MT-CO3 |
|
|
20100804711 |
9325 |
T-C |
M-T |
MT-CO3 |
|
|
20080117004 |
9329 |
G-A |
syn |
MT-CO3 |
Deafness |
Caucasian/Africain |
20080120001 |
9335 |
C-T |
syn |
MT-CO3 |
KSS |
Caucasian/Africain |
20100804712 |
9335 |
C-A |
syn |
MT-CO3 |
|
|
20050809013 |
9337 |
T-C |
M-T |
MT-CO3 |
Normal |
Arabs |
20100804713 |
9337 |
T-C |
M-T |
MT-CO3 |
|
|
20060518003 |
9338 |
A-G |
syn |
MT-CO3 |
Myopathy |
Caucasian |
20100804714 |
9350 |
A-G |
syn |
MT-CO3 |
|
|
20100804715 |
9351 |
A-C |
T-P |
MT-CO3 |
|
|
20100804716 |
9365 |
C-T |
syn |
MT-CO3 |
|
|
20100804717 |
9368 |
A-G |
syn |
MT-CO3 |
|
|
19991118010 |
9377 |
G-A |
syn |
MT-CO3 |
Subfertile |
Unknown |
20100804718 |
9377 |
A-G |
syn |
MT-CO3 |
|
|
19990323001 |
9380 |
G-A |
syn |
MT-CO3 |
Myopathy |
Caucasian |
19991118009 |
9380 |
G-A |
syn |
MT-CO3 |
Subfertile |
Unknown |
20100804719 |
9380 |
G-A |
syn |
MT-CO3 |
|
|
20100804720 |
9383 |
C-T |
syn |
MT-CO3 |
|
|
20100804721 |
9389 |
A-G |
syn |
MT-CO3 |
|
|
20100804722 |
9391 |
C-T |
T-M |
MT-CO3 |
|
|
20100804723 |
9398 |
A-G |
syn |
MT-CO3 |
|
|
20120110002 |
9404 |
|
|
|
Leigh Syndrome |
Caucasian/Africain |
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 |
|
|
20010828022 |
9426 |
C-T |
P-S |
MT-CO3 |
Sporadic Parathyroid Adenoma |
- |
20010828024 |
9426 |
C-T |
P-S |
MT-CO3 |
Sporadic Parathyroid Adenoma |
- |
20070612005 |
9438 |
G-A |
G-S |
MT-CO3 |
Normal |
Saudi Arabs |
20100804725 |
9438 |
G-A |
G-S |
MT-CO3 |
|
|
20080117005 |
9467 |
T-C |
syn |
MT-CO3 |
Deafness |
Caucasian/Africain |
20100804726 |
9469 |
C-T |
T-I |
MT-CO3 |
|
|
19991118006 |
9477 |
G-A |
V-I |
MT-CO3 |
Control |
unknown |
19991118007 |
9477 |
G-A |
V-I |
MT-CO3 |
Subfertile |
Unknown |
20050919034 |
9477 |
G-A |
V-I |
MT-CO3 |
Normal |
Arabs |
20100804727 |
9477 |
G-A |
V-I |
MT-CO3 |
|
|
20080117006 |
9495 |
T-C |
F-L |
MT-CO3 |
Deafness |
Caucasian/Africain |
20031029002 |
9509 |
T-C |
syn |
MT-CO3 |
LHON |
Arabs |
20100804728 |
9521 |
C-T |
syn |
MT-CO3 |
|
|
20100804729 |
9528 |
C-A |
P-T |
MT-CO3 |
|
|
20030918003 |
9530 |
T-C |
syn |
MT-CO3 |
Liver Cancer |
Asian |
20050809014 |
9539 |
A-T |
Q-H |
MT-CO3 |
Normal |
Arabs |
20100804730 |
9540 |
T-C |
syn |
MT-CO3 |
|
|
19990218008 |
9545 |
A-G |
syn |
MT-CO3 |
LHON |
Hispanic |
20100804731 |
9545 |
A-G |
syn |
MT-CO3 |
|
|
19991118008 |
9548 |
G-A |
syn |
MT-CO3 |
Subfertile |
unknown |
20100804732 |
9548 |
G-A |
syn |
MT-CO3 |
|
|
20100804733 |
9575 |
G-A |
syn |
MT-CO3 |
|
|
20110801016 |
9581 |
T-C |
syn |
MT-CO3 |
Mild Hearing loss |
Asian |
20090129009 |
9590 |
A-G |
syn |
MT-CO3 |
COPD |
Caucasian |
20100804734 |
9591 |
G-A |
V-I |
MT-CO3 |
|
|
20120110005 |
9605 |
|
|
|
Cardiomyopathy |
Caucasian/Africain |
20080117007 |
9617 |
A-G |
syn |
MT-CO3 |
Deafness |
Caucasian/Africain |
20070527003 |
9621 |
G-A |
A-T |
MT-CO3 |
Breast Cancer |
Caucasian |
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 |
20010828025 |
9656 |
T-C |
syn |
MT-CO3 |
Sporadic Parathyroid Adenoma |
- |
20100804736 |
9656 |
T-C |
syn |
MT-CO3 |
|
|
20100804737 |
9664 |
A-G |
E-G |
MT-CO3 |
|
|
20100804738 |
9667 |
A-G |
N-S |
MT-CO3 |
|
|
20100804739 |
9670 |
A-G |
N-S |
MT-CO3 |
|
|
20050813018 |
9675 |
A-C |
N-H |
MT-CO3 |
Normal |
Arabs |
20100804740 |
9682 |
T-C |
M-T |
MT-CO3 |
|
|
20100804741 |
9693 |
C-T |
syn |
MT-CO3 |
|
|
20100804742 |
9698 |
T-C |
syn |
MT-CO3 |
|
|
20100804743 |
9704 |
A-T |
syn |
MT-CO3 |
|
|
20100804744 |
9716 |
T-C |
syn |
MT-CO3 |
|
|
20100804745 |
9725 |
T-C |
syn |
MT-CO3 |
|
|
20140217003 |
9732 |
C-T |
L-L |
MT-CO3 |
sCJD |
Han Chinese |
20100804746 |
9738 |
G-A |
A-T |
MT-CO3 |
|
|
20100804747 |
9742 |
C-T |
S-L |
MT-CO3 |
|
|
20100804748 |
9753 |
G-A |
E-K |
MT-CO3 |
|
|
20100804749 |
9755 |
G-A |
syn |
MT-CO3 |
|
|
20100804750 |
9761 |
C-T |
syn |
MT-CO3 |
|
|
20140214008 |
9769 |
T-C |
I-T (Ile188Thr) |
MT-CO3 |
myasthenia gravis |
Caucasian |
20100804751 |
9770 |
T-C |
syn |
MT-CO3 |
|
|
20031029003 |
9794 |
A-G |
syn |
MT-CO3 |
LHON |
Arabs |
20100804752 |
9800 |
T-C |
syn |
MT-CO3 |
|
|
20100804753 |
9801 |
G-A |
V-M |
MT-CO3 |
|
|
20100804754 |
9804 |
G-A |
A-T |
MT-CO3 |
|
|
20090129010 |
9806 |
C-T |
syn |
MT-CO3 |
COPD |
Caucasian |
20100804755 |
9809 |
A-C |
syn |
MT-CO3 |
|
|
20100804756 |
9809 |
A-G |
syn |
MT-CO3 |
|
|
20040912003 |
9822 |
C-T |
L-F |
MT-CO3 |
Normal |
Arabs |
20100804757 |
9840 |
T-A |
S-T |
MT-CO3 |
|
|
20100804758 |
9845 |
T-C |
syn |
MT-CO3 |
|
|
20090129011 |
9869 |
C-G |
syn |
MT-CO3 |
COPD |
Caucasian |
19991118011 |
9899 |
T-C |
syn |
MT-CO3 |
Control |
Unknown |
20100804759 |
9899 |
T-C |
syn |
MT-CO3 |
|
|
20100804760 |
9903 |
T-C |
F-L |
MT-CO3 |
|
|
20100804761 |
9932 |
G-A |
syn |
MT-CO3 |
|
|
20090129013 |
9933 |
C-A |
H-N |
MT-CO3 |
COPD |
Caucasian |
20100804762 |
9938 |
T-C |
syn |
MT-CO3 |
|
|
19991118012 |
9941 |
A-G |
syn |
MT-CO3 |
Subfertile |
Unknown |
20100804763 |
9947 |
G-A |
syn |
MT-CO3 |
|
|
20100804764 |
9948 |
G-A |
V-I |
MT-CO3 |
|
|
20100804765 |
9962 |
G-A |
syn |
MT-CO3 |
|
|
20100804766 |
9966 |
G-A |
V-I |
MT-CO3 |
|
|
20140217004 |
9974 |
C-T |
I-I |
MT-CO3 |
sCJD |
Han Chinese |
20100804767 |
9986 |
G-A |
syn |
MT-CO3 |
|
|
20090129014 |
9987 |
T-A |
S-T |
MT-CO3 |
COPD |
Caucasian |
20100804768 |
10005 |
A-G |
tRNA |
MT-TG |
|
|
20100804769 |
10018 |
A-G |
tRNA |
MT-TG |
|
|
20050813019 |
10031 |
T-C |
tRNA |
MT-TG |
Normal |
Arabs |
20050813006 |
10034 |
T-C |
tRNA |
MT-TG |
Normal |
Arabs |
20100804770 |
10034 |
T-C |
tRNA |
MT-TG |
|
|
20000825012 |
10044 |
A-G |
noncod |
MT-TG |
Pancreatic Cancer |
Caucasian |
20100804771 |
10044 |
A-G |
tRNA |
MT-TG |
|
|
20050919035 |
10079 |
A-C |
L-F |
MT-ND3 |
Normal |
Arabs |
20100804772 |
10081 |
T-C |
M-T |
MT-ND3 |
|
|
20100804773 |
10084 |
T-C |
I-T |
MT-ND3 |
|
|
20100804774 |
10097 |
A-G |
syn |
MT-ND3 |
|
|
20070327007 |
10098 |
G-A |
A-T |
MT-ND3 |
Deafness |
Arabs |
20100804775 |
10109 |
A-T |
syn |
MT-ND3 |
|
|
20100804776 |
10110 |
A-C |
M-L |
MT-ND3 |
|
|
20100804777 |
10112 |
A-C |
M-I |
MT-ND3 |
|
|
20100804778 |
10113 |
A-T |
I-F |
MT-ND3 |
|
|
20001017011 |
10115 |
T-C |
syn |
MT-ND3 |
Lung Cancer |
Caucasian |
20100804779 |
10115 |
T-C |
syn |
MT-ND3 |
|
|
20100804780 |
10116 |
A-C |
I-L |
MT-ND3 |
|
|
20100804781 |
10116 |
A-G |
I-V |
MT-ND3 |
|
|
20100804782 |
10124 |
T-C |
syn |
MT-ND3 |
|
|
20100804783 |
10142 |
C-T |
syn |
MT-ND3 |
|
|
20050809015 |
10143 |
G-A |
G-S |
MT-ND3 |
Normal |
Arabs |
20100804784 |
10151 |
A-G |
syn |
MT-ND3 |
|
|
20030918004 |
10153 |
A-C |
E-A |
MT-ND3 |
Liver Cancer |
Asian |
20100804785 |
10154 |
A-G |
syn |
MT-ND3 |
|
|
20110224001 |
10158 |
T-G |
S-A |
MT-ND3 |
LHON |
South Indian |
20050813007 |
10159 |
C-G |
S-C |
MT-ND3 |
Normal |
Arabs |
20100804786 |
10169 |
C-T |
syn |
MT-ND3 |
|
|
20100804787 |
10172 |
G-A |
syn |
MT-ND3 |
|
|
20100804788 |
10191 |
T-C |
S-P |
MT-ND3 |
|
|
20100804789 |
10192 |
C-T |
S-F |
MT-ND3 |
|
|
20100804790 |
10196 |
C-T |
syn |
MT-ND3 |
|
|
20100804791 |
10204 |
T-C |
V-A |
MT-ND3 |
|
|
20100804792 |
10211 |
C-T |
syn |
MT-ND3 |
|
|
20100804793 |
10217 |
A-G |
syn |
MT-ND3 |
|
|
20100804794 |
10227 |
T-C |
syn |
MT-ND3 |
|
|
20050928002 |
10230 |
G-C |
V-L |
MT-ND3 |
Optic Neuropathy, visual loss |
Caucasian |
20100804795 |
10232 |
A-G |
syn |
MT-ND3 |
|
|
20100804796 |
10235 |
T-C |
syn |
MT-ND3 |
|
|
20140730005 |
10236 |
A-G |
I-V |
MT-ND3 |
CAD+T2DM |
Asian Indian |
20100804797 |
10237 |
T-C |
I-T |
MT-ND3 |
|
|
20050919021 |
10238 |
T-C |
syn |
MT-ND3 |
Normal |
Arabs |
20100804798 |
10238 |
T-C |
syn |
MT-ND3 |
|
|
20100804799 |
10245 |
T-C |
syn |
MT-ND3 |
|
|
20100804800 |
10256 |
T-C |
syn |
MT-ND3 |
|
|
20050919022 |
10262 |
A-G |
syn |
MT-ND3 |
Normal |
Arabs |
20100804801 |
10262 |
A-G |
syn |
MT-ND3 |
|
|
20070327008 |
10265 |
T-C |
syn |
MT-ND3 |
Leigh Syndrome |
Arabs |
20100804802 |
10265 |
T-C |
syn |
MT-ND3 |
|
|
20040713014 |
|