MITOMAP: Unpublished mtDNA Variants

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Polymorphisms

Details and Citation Position Nucleotide Change Amino Acid Change Locus / Gene Patient Group / Phenotype Ethnographic Info
20100312001 000          
20030528078 33 C-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20030529017 34 G-C noncod D-Loop Oral Cancer Asian Indian- Marathi
20030529018 43 C-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20030428001 47 G-A noncod D-Loop Normal Kazhakh
20030529043 48 C-G noncod D-Loop Oral Cancer Asian Indian
20030529001 53 G-T noncod D-Loop Oral Cancer Asian Indian- Bihari
20030528079 55 T-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528080 60 T-C noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528122 63 T-G noncod D-Loop Oral Cancer Asian Indian- Gujarati
20030528123 66 G-A noncod D-Loop Oral Cancer Asian Indian- Gujarati
20030527020 72 T-G noncod D-Loop Oral Cancer Asian Indian
20030527021 73 A-G noncod D-Loop Oral Cancer Asian Indian
20030528124 74 T-G noncod D-Loop Oral Cancer Asian Indian- Gujarati
20030428002 75 G-A noncod D-Loop Normal Kazhakh
20030529044 76 C-G noncod D-Loop Oral Cancer Asian Indian
20030529045 77 A-G noncod D-Loop Oral Cancer Asian Indian
20030529046 79 G-C noncod D-Loop Oral Cancer Asian Indian
20030528022 81 G-A noncod D-Loop Oral Cancer Asian Indian- Marathi
20030529047 81 G-C noncod D-Loop Oral Cancer Asian Indian
20030528023 85 G-C noncod D-Loop Oral Cancer Asian Indian- Marathi
20030529010 88 T-A noncod D-Loop Oral Cancer Asian Indian
20030528127 91 C-G noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030528024 94 G-A noncod D-Loop Oral Cancer Asian Indian- Marathi
20030529036 96 C-A noncod D-Loop Oral Cancer Asian Indian
20030528069 97 G-C noncod D-Loop Oral Cancer Asian Indian- Muslim
20030528070 98 C-T noncod D-Loop Oral Cancer Asian Indian- Muslim
20030528128 102 A-G noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030528129 103 G-A noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030528130 104 C-G noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030529019 105 C-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20030529037 108 A-G noncod D-Loop Oral Cancer Asian Indian
20030528025 109 G-A noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528131 114 C-T noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030529011 119 T-G noncod D-Loop Oral Cancer Asian Indian
20030529048 121 G-C noncod D-Loop Oral Cancer Asian Indian
20030528132 122 C-G noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030528151 124 G-A noncod D-Loop Oral Cancer Asian Indian
20030528133 125 T-G noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030527003 125 T-A noncod D-Loop Oral Cancer Asian Indian- Gujarati
20000211004 125 T-G noncod D-Loop - Chinese
20021231006 126 T-C noncod D-Loop Normal Madia Gond tribe
20091019002 129 T-C noncod D-Loop Normal Malay
20030527022 131 T-C noncod D-Loop Oral Cancer Asian Indian
20030528026 131 T-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528027 135 T-G noncod D-Loop Oral Cancer Asian Indian
20030529038 136 G-A noncod D-Loop Oral Cancer Asian Indian
20030528134 142 T-C noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030529039 143 G-A noncod D-Loop Oral Cancer Asian Indian
20030528135 144 C-G noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030916001 146 T-A noncod D-Loop Liver Cancer Asian
20010303003 147 C-T noncod D-Loop Breast Cancer Caucasian
20030527005 150 C-T noncod D-Loop Oral Cancer Asian Indian
20030528030 151 C-T noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528031 152 T-C noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528028 152 T-A noncod D-Loop Oral Cancer Asian Indian- Marathi
20030527025 154 T-A noncod D-Loop Oral Cancer Asian Indian
20030529040 155 T-A noncod D-Loop Oral Cancer Asian Indian
20030529029 157 T-A noncod D-Loop Oral Cancer Asian India
20030529020 159 T-A noncod D-Loop Oral Cancer Asian Indian- Marathi
20030529030 162 C-G noncod D-Loop Oral Cancer Asian Indian
20021231007 163 A-G noncod D-Loop Normal Madia Gond tribe
20030528154 164 C-G noncod D-Loop Oral Cancer Asian Indian
20030529004 164 C-A noncod D-Loop Oral Cancer Asian Indian- Bihari
20030528029 165 A-C noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528136 172 T-G noncod D-Loop Oral Cancer Asian Indian- Sindhi
20030529032 173 T-C noncod D-Loop Oral Cancer Asian Indian
20030528118 174 C-A noncod D-Loop Oral Cancer Asian Indian- Malayali
20030528119 178 A-T noncod D-Loop Oral Cancer Asian Indian- Malayali
20030527035 178 A-G noncod D-Loop Oral Cancer Asian Indian- Bengali
20030529013 180 T-A noncod D-Loop Oral Cancer Asian Indian
20021231008 186 C-T noncod D-Loop Normal Madia Gond tribe
20030529023 186 C-G noncod D-Loop 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
20030528033 193 A-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20000211002 195 T-A noncod D-Loop - Indian
20030528054 195 T-C noncod D-Loop Oral Cancer Asian Indian- Marathi
20030527006 204 T-G noncod D-Loop Oral Cancer Asian Indian- Gujarati
20030527027 204 T-C noncod D-Loop Oral Cancer Asian Indian
20030527007 206 T-G noncod D-Loop Oral Cancer Asian Indian- Gujarati
20030527008 209 T-A noncod D-Loop Oral Cancer Asian Indian- Gujarati
19990218005 216 T-C noncod D-Loop Hearing Loss Caucasian
20070527004 220 T-A noncod D-Loop Breast Cancer Caucasian
20030527010 224 T-G noncod D-Loop Oral Cancer Asian Indian- Gujarati
20030528056 226 T-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20030527037 227 A-C noncod D-Loop Oral Cancer Asian Indian
20030527038 228 G-C noncod D-Loop Oral Cancer Asian Indian- Bengali
20030528057 229 G-A noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528058 231 C-A noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528035 237 A-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20030528036 238 A-G noncod D-Loop Oral Cancer Asian Indian- Marathi
20030527039 238 A-T noncod D-Loop Oral Cancer Asian Indian- Bengali
20030527040 239 T-G noncod D-Loop Oral Cancer Asian Indian- Bengali
20000211003 246 T-C noncod D-Loop - Indian
20040713010 251 G-A noncod D-Loop Esophageal Cancer Asian
20040720001 251 G-A noncod D-Loop Breast Cancer Asian
20010424001 253 C-A noncod D-Loop Sporadic Parathyroid Adenoma -
20030528037 257 A-T noncod D-Loop Oral Cancer Asian Indian- Marathi
20030916002 259 A-G noncod D-Loop Liver Cancer Asian
20040720002 260 G-A noncod D-Loop Breast Cancer Asian
20030528085 260 G-C noncod D-Loop Oral Cancer Asian Indian- Muslim
20050106002 262 C-T noncod D-Loop Normal Caucasian
20030528086 263 A-G noncod D-Loop Oral Cancer Asian Indian- Muslim
20030528001 263 A-C noncod D-Loop Oral Cancer Asian Indian- Bengali
20030528002 264 C-G noncod D-Loop Oral Cancer Asian Indian- Bengali
20030528003 265 T-C noncod D-Loop Oral Cancer Asian Indian- Bengali
20060605005 267 T-C noncod D-Loop Normal Indigenous group-Jehai
20030528004 268 C-G noncod D-Loop Oral Cancer Asian Indian- Bengali
20050106003 269 C-T noncod D-Loop Normal Caucasian
20030528087 271 C-A noncod D-Loop Oral Cancer Asian Indian- Muslim
20030528005 271 C-G noncod D-Loop Oral Cancer Asian Indian- Bengali
20030528006 273 C-A noncod D-Loop Oral Cancer Asian Indian- Bengali
20030528007 283 A-T noncod D-Loop Oral Cancer Asian Indian- Bengali
20030528008 284 A-T noncod D-Loop Oral Cancer Asian Indian- Bengali
20010828002 285 C-T noncod D-Loop Sporadic Parathyroid Adenoma -
20030528009 287 A-T noncod D-Loop Oral Cancer Asian Indian- Bengali
20040327001 288 A-G noncod D-Loop Pancreatic Ductal Adenocarcinoma Caucasian
20030528010 288 A-T noncod D-Loop Oral Cancer Asian Indian- Bengali
20021231010 294 T-C noncod D-Loop Normal Madia Gond tribe
20050106004 295 C-A noncod D-Loop Normal Caucasian
20050106005 324 C-T noncod D-Loop Normal Caucasian
20000211005 329 G-A noncod D-Loop - Malay
19990218006 340 C-T noncod D-Loop Hearing Loss Caucasian
20091006002 447 C-G noncod D-Loop Normal Kedah Malays
20000915002 447 C-G noncod D-Loop - Punjabi
20000914001 463 C-T noncod D-Loop - -
20000211009 469 C-A noncod D-Loop - Punjabi
20050419001 480 T-C noncod D-Loop LHON Caucasian
20040720003 481 C-T noncod D-Loop Breast Cancer Asian
20040713011 481 C-T noncod D-Loop Esophageal Cancer Asian
20000211001 482 T-C noncod D-Loop - Indian
20000914002 485 T-C noncod D-Loop - Indian
20050106007 489 T-G noncod D-Loop Normal Caucasian
20030916003 504 T-C noncod D-Loop Liver Cancer Asian
20021231001 512 A-G noncod D-Loop Leigh Syndrome Caucasian
20040720004 530 C-T noncod D-Loop Breast Cancer Asian
20040720005 556 A-T noncod D-Loop Breast Cancer Asian
20000914003 560 C-T noncod D-Loop - Kadazan-Dusun
20040720006 570 C-A noncod D-Loop Breast Cancer Asian
20040720007 574 A-C noncod D-Loop Breast Cancer Asian
20040720008 576 A-C noncod D-Loop Breast Cancer Asian
20090604001 581 A-C noncod MT-TF DIABETES Africain/caucasian
20040720009 593 T-C noncod MT-TF Breast Cancer Asian
20071219001 689 T-C noncod MT-RNR1 Normal Caucasian
19990316006 711 T-C noncod MT-RNR1 - -
20050919001 722 C-G noncod MT-RNR1 Normal Arabs
20050919002 723 A-G noncod MT-RNR1 Normal Arabs
20050308004 735 A-G noncod MT-RNR1 Deafness Africain
20050308003 742 T-C noncod MT-RNR1 Normal Africain
20071219002 751 A-G noncod MT-RNR1 Normal Caucasian
20050308005 794 T-A noncod MT-RNR1 Deafness Africain
20050313001 813 A-G noncod MT-RNR1 Deafness Africain
20050919003 827 A-G noncod MT-RNR1 Normal Arabs
20050308002 868 C-T noncod MT-RNR1 Normal Africain
20081112001 930 G-C noncod MT-RNR1 Normal Yakut
20050308001 954 C-T noncod MT-RNR1 Normal Africain
20060913001 961 T-A noncod MT-RNR1 Deafness Russian
20010828003 1007 G-A noncod MT-RNR1 Sporadic Parathyroid Adenoma -
20050919004 1018 G-A noncod MT-RNR1 Normal Arabs
20070709001 1027 A-G noncod MT-RNR1 Control Altaian
20050919005 1189 T-C noncod MT-RNR1 Normal Arabs
20050919006 1245 T-G noncod MT-RNR1 Normal Arabs
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
20081106002 1508 C-T noncod MT-RNR1 Non-Syndromic Hearing Impairment (NSHI) Hindu
20071219004 1556 C-T noncod MT-RNR1 Normal Caucasian
20070709002 1557 A-C noncod MT-RNR1 Deafness Russian
20041220011 1700 T-C noncod MT-RNR2 Oral Cancer Asian Indian
20010828004 1700 T-C noncod MT-RNR2 Sporadic Parathyroid Adenoma -
20060130005 1703 C-T noncod MT-RNR2 Mental Retardation Caucasian
20010301006 1703 C-T noncod MT-RNR2 Breast Cancer Caucasian
20041220008 1713 A-G noncod MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220007 1713 C-T noncod MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220009 1715 C-T noncod MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220005 1719 G-A noncod MT-RNR2 Oral Cancer Asian Indian-Muslim
20050919007 1721 C-T noncod MT-RNR2 Normal Arabs
20041220002 1780 T-C noncod MT-RNR2 Oral Cancer Asian Indian
20041220013 1811 A-G noncod MT-RNR2 Oral Cancer Asian Indian-Gujarati
20050919008 1811 A-G noncod MT-RNR2 Normal Arabs
20041220004 1811 A-G noncod MT-RNR2 Oral Cancer Asian Indian-Muslim
20050919009 1837 C-A noncod MT-RNR2 Normal Arabs
20070207001 1843 T-C noncod MT-RNR1 Centenarian Caucasian
20050919010 1845 C-A noncod MT-RNR2 Normal Arabs
20070207002 1940 A-G noncod MT-RNR1 Centenarian Caucasian
20010828005 2218 C-T noncod MT-RNR2 Sporadic Parathyroid Adenoma -
20050919011 2355 A-G noncod MT-RNR2 Normal Arabs
20041220014 2361 G-A noncod MT-RNR2 Oral Cancer Asian Indian-Marathi
20041220016 2396 C-T noncod MT-RNR2 Oral Cancer Asian Indian
20050919012 2442 T-C noncod MT-RNR2 Normal Arabs
20050919013 2451 A-C noncod MT-RNR2 Normal Arabs
20050919014 2505 A-C noncod MT-RNR2 Normal Arabs
20070207003 2623 A-G noncod MT-RNR1 Centenarian Caucasian
20041220003 2644 A-G noncod MT-RNR2 Oral Cancer Asian Indian-Marathi
20050919015 2706 A-G noncod MT-RNR2 Normal Arabs
20041220001 2706 A-G noncod MT-RNR2 Oral Cancer Asian Indian - Gujarati
20041220006 2715 A-G noncod MT-RNR2 Oral Cancer Asian Indian-Gujarati
20041220015 3116 C-T noncod MT-RNR2 Oral Cancer Asian Indian-Marathi
19990316007 3116 C-T noncod MT-RNR2 - -
20010828006 3160 A-T noncod MT-RNR2 Sporadic Parathyroid Adenoma -
19990316008 3184 C-T noncod MT-RNR2 - -
19990308003 3197 T-C noncod MT-RNR2 Encephalopathy Cardiomyopathy Mennonite
20041220012 3197 T-C noncod MT-RNR2 Oral Cancer Asian Indian
20021231003 3206 C-T noncod MT-RNR2 MELAS Caucasian
20041220017 3220 A-G noncod MT-RNR2 Oral Cancer Asian Indian
20051007006 3221 A-G noncod MT-RNR2 - Caucasian
20030912001 3242 G-A noncod MT-TL1 Myelodysplastic Syndrome (MDS) Caucasian
20090315002 3316 G-A A-T MT-ND1 Uterine Leiomyomas Asian Indian
20090315005 3327 A-C syn MT-ND1 Uterine Leiomyomas Asian Indian
20060518004 3342 C-T syn MT-ND1 - Caucasian
20090315004 3342 C-A syn MT-ND1 Uterine Leiomyomas Asian Indian
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
20021231013 3360 A-G syn MT-ND1 Leucodystrophy Caucasian
20090315007 3376 G-A E-K MT-ND1 Uterine Leiomyomas Asian Indian
20090315008 3380 G-A R-Q MT-ND1 Uterine Leiomyomas Asian Indian
20070208002 3397 A-G M-V MT-ND1 Type 2 Diabetes Mellitus Ashkenazi Jew
20010828007 3397 A-G M-V MT-ND1 Sporadic Parathyroid Adenoma -
20090315006 3421 G-A V-I MT-ND1 Uterine Leiomyomas Asian Indian
20090315003 3442 C-T syn MT-ND1 Uterine Leiomyomas Asian Indian
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
20000825002 3547 A-G I-V MT-ND1 Pancreatic Cancer Caucasian
19990218007 3552 T-A syn MT-ND1 LHON Hispanic
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 -
19990316009 3594 C-T syn MT-ND1 - -
20040210002 3594 C-T syn MT-ND1 NAION Arabs
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
19990316010 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
19990316011 3693 G-A syn MT-ND1 - -
20091229001 3710 C-T A-V MT-ND1 Breast Cancer Caucasian
20020409001 3741 C-T syn MT-ND1 MELAS Caucasian
20020410001 3741 C-T syn MT-ND1 MELAS Caucasian
20091229002 3756 A-G syn MT-ND1 Breast Cancer Africain
20040210003 3768 A-G syn MT-ND1 NAION Arabs
20091229003 3803 T-C I-T MT-ND1 Breast Cancer Caucasian
20040210004 3834 G-A syn MT-ND1 NAION Arabs
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
20050809001 3866 T-C I-T MT-ND1 Normal Arabs
20040210006 3921 C-A syn MT-ND1 NAION Arabs
20010301007 3921 C-A syn MT-ND1 Breast Cancer Caucasian
20060518005 3943 A-G I-V MT-ND1 - Caucasian
20000825009 3992 C-T T-M MT-ND1 Pancreatic Cancer Caucasian
20040912001 3993 A-G syn MT-ND1 Normal Arabs
20050813001 4012 A-G T-A MT-ND1 Normal Arabs
20040912002 4013 C-G T-S MT-ND1 Normal Arabs
20080414003 4017 C-T syn MT-ND1 Hypertrophic Cardiomyopathy Caucasian
20010303006 4021 A-G T-A MT-ND1 Breast Cancer Caucasian
20000825010 4024 A-G T-A MT-ND1 Pancreatic Cancer Caucasian
20060518006 4065 A-G syn MT-ND1 - Caucasian
20080414002 4080 T-C syn MT-ND1 Cardiomyopathy Caucasian/Africain
20040210007 4092 G-A syn MT-ND1 NAION Arabs
20040210008 4104 A-G syn MT-ND1 NAION Arabs
19990316012 4104 A-G syn MT-ND1 - -
20010424002 4172 T-C L-P MT-ND1 Sporadic Parathyroid Adenoma -
20010828009 4188 A-G syn MT-ND1 Sporadic Parathyroid Adenoma -
20040317003 4203 A-G syn MT-ND1 Normal Saudi Arab
20040317011 4204 T-C syn MT-ND1 Normal Saudi Arab
20061030001 4206 A-G syn MT-ND1 Control south African Mixed Ancestry
20050813014 4216 T-C Y-H MT-ND1 Normal Arabs
20010828010 4216 T-C Y-H MT-ND1 Sporadic Parathyroid Adenoma -
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
20040210009 4257 A-G syn MT-ND1 NAION Arabs
20050318001 4310 A-G noncod MT-T1 - Caucasian
20080117001 4313 T-C syn MT-T1 Deafness Caucasian/Africain
19990721001 4315 A-G noncod MT-T1 Psychomotor retardation Caucasian
20070612001 4363 T-C noncod MT-T1 Normal Saudi Arabs
20081202001 4395 A-G noncod MT-TQ cardiomyopathy Afrique
20010828011 4418 T-C noncod MT-TM Sporadic Parathyroid Adenoma -
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
20040720010 4562 A-G syn MT-ND2 Breast Cancer Asian
20091229006 4598 T-C syn MT-ND2 Breast Cancer African, Amerindian
20100125001 4611 A-G M-V MT-ND2 diabetes Tunisian
20010828012 4640 C-A I-M MT-ND2 Sporadic Parathyroid Adenoma -
20050813002 4734 A-G T-A MT-ND2 Normal Arabs
20091229007 4755 T-C syn MT-ND2 Breast Cancer Africain
20050813003 4767 A-G M-V MT-ND2 Normal Arabs
20050919017 4769 A-G syn MT-ND2 Normal Arabs
20000825014 4793 A-G syn MT-ND2 Pancreatic Cancer Caucasian
20000825003 4820 G-A syn MT-ND2 Pancreatic Cancer Caucasian
20070724001 4842 A-G T-A MT-ND2 Leigh Syndrome Caucasian/Africain
20070724003 4859 T-C syn MT-ND2 Leigh Syndrome Caucasian/Africain
20050809002 4904 C-A I-M MT-ND2 Normal Arabs
20050809003 4917 A-G N-D MT-ND2 Normal Arabs
20010301003 4917 A-G N-D MT-ND2 - Caucasian
20040720014 4973 T-C syn MT-ND2 Breast Cancer Caucasian
20000825004 4977 T-C syn MT-ND2 Pancreatic Cancer Caucasian
20000825011 5004 T-C syn MT-ND2 Pancreatic Cancer Caucasian
20010424003 5026 A-G H-R MT-ND2 Sporadic Parathyroid Adenoma -
19990316013 5036 A-G syn MT-ND2 - -
19990316014 5046 G-A V-I MT-ND2 - -
19990316015 5054 G-A syn MT-ND2 - -
20091229008 5069 A-T M-I MT-ND2 Breast Cancer Africain
20091229009 5087 T-C syn MT-ND2 Breast Cancer Africain
20091229010 5096 T-C syn MT-ND2 Breast Cancer Africain
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
20010301002 5198 A-G syn MT-ND2 - Caucasian
20050809004 5263 C-T A-V MT-ND2 Normal Arabs
20040720015 5285 A-G syn MT-ND2 Breast Cancer Caucasian
20091229014 5300 C-T syn MT-ND2 Breast Cancer Africain
20051007002 5315 A-G syn MT-ND2 Encephalomyopathy Caucasian
20000825015 5348 C-T syn MT-ND2 Pancreatic Cancer Caucasian
20040317001 5360 C-T syn MT-ND2 Normal Saudi Arab
20091229015 5372 A-G syn MT-ND2 Breast Cancer Africain
19990316016 5390 A-G syn MT-ND2 - -
19990316017 5393 T-C syn MT-ND2 - -
20091229016 5420 T-C syn MT-ND2 Breast Cancer Amerindian
20080520001 5432 A-G syn MT-ND2 Ptosis, eye pain Asian
20070724004 5453 A-G syn MT-ND2 Leigh Syndrome Caucasian/Africain
20050813016 5460 G-A A-T MT-ND2 Normal Arabs
20010301004 5471 G-A syn MT-ND2 - Caucasian
19990316018 5485 T-C I-T MT-ND2 - -
20070724005 5523 T-G noncod MT-TW Leigh Syndrome Caucasian/Africain
20070724006 5556 G-A noncod MT-TW Leigh Syndrome Caucasian/Africain
20080520002 5558 A-G noncod MT-TW Ophthalmoparesis, single eye ptosis Asian
20070724007 5559 A-G noncod MT-TW Leigh Syndrome Caucasian/Africain
20080520003 5585 G-A noncod MT-NC3 Ophthalmoparesis, single eye ptosis Asian
20070724008 5618 T-G noncod MT-TA Leigh Syndrome Caucasian/Africain
19990316019 5655 T-C noncod MT-NC4 - -
20050919018 5836 A-G noncod MT-TY Normal Arabs
20070612002 5843 A-G noncod MT-TY Normal Saudi Arabs
20070724009 5855 A-G noncod MT-TY Leigh Syndrome Caucasian/Africain
20050919019 5913 G-A D-N MT-CO1 Normal Arabs
20050919020 5981 T-C syn MT-CO1 Normal Arabs
20010828013 6026 G-A syn MT-CO1 Sporadic Parathyroid Adenoma -
20050809005 6040 A-G N-S MT-CO1 Normal Arabs
19990303003 6045 C-T syn MT-CO1 Hearing Loss Caucasian
20090129001 6060 A-G I-V MT-CO1 COPD Caucasian
20090129002 6140 C-G syn MT-CO1 COPD Caucasian
20090529003 6146 A-G syn MT-CO1 Infertility Africain/caucasian
19990316020 6152 T-C syn MT-CO1 - -
20060515001 6164 C-T syn MT-CO1 Progeria Caucasian
20090129003 6179 G-A syn MT-CO1 COPD Caucasian
20090529002 6216 T-C L1-L2 MT-CO1 Infertility Africain/caucasian
20090129004 6299 A-G syn MT-CO1 COPD Caucasian
20030918001 6338 A-G syn MT-CO1 Liver Cancer Asian
20090129005 6383 G-A syn MT-CO1 COPD Caucasian
20040210010 6386 C-T syn MT-CO1 NAION Arabs
20090129006 6410 C-T syn MT-CO1 COPD Caucasian
20000825005 6473 C-T syn MT-CO1 Pancreatic Cancer 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
20090604002 6527 A-T M-I MT-CO1 DIABETES Africain/caucasian
20070612003 6546 C-T L-F MT-CO1 Normal Saudi Arabs
19990316021 6548 C-T syn MT-CO1 - -
20010828014 6570 G-T A-S MT-CO1 Sporadic Parathyroid Adenoma -
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 - -
19990316023 6827 T-C syn MT-CO1 - -
19990316024 6989 A-G syn MT-CO1 - -
20000402001 7058 T-C syn MT-CO1 Leigh Syndrome Caucasian
20040713003 7142 T-C syn MT-CO1 Oral Cancer Asian
19990316025 7146 A-G T-A MT-CO1 - -
19990316026 7158 A-G I-V MT-CO1 - -
19990316027 7175 T-C syn MT-CO1 - -
20010828016 7220 T-C syn MT-CO1 Sporadic Parathyroid Adenoma -
19990316028 7256 C-T syn MT-CO1 - -
19990316029 7274 C-T syn MT-CO1 - -
20050813004 7278 T-C F-L MT-CO1 Normal Arabs
20040317010 7322 A-G syn MT-CO1 Normal Saudi Arab
20040317002 7364 A-G syn MT-CO1 Normal Saudi Arab
20080117002 7372 T-C M-T MT-CO1 Deafness Caucasian/Africain
19990316030 7389 T-C Y-H MT-CO1 - -
20050809006 7521 G-T noncod MT-TD Normal Arabs
20050809007 7646 A-C I-L MT-CO2 Normal Arabs
20041210003 7702 G-A syn MT-CO2 Oral Cancer Asian Indian-Marathi
20040713008 7711 T-C syn MT-CO2 Esophageal Cancer Asian
20041210013 7762 G-A syn MT-CO2 Oral Cancer Asian Indian
20060130003 7774 C-T syn MT-CO2 Encephalopathy Caucasian
19990316031 7819 C-A syn MT-CO2 - -
20041210007 7837 T-C syn MT-CO2 Oral Cancer Asian Indian-Marathi
20041210004 7843 A-G syn MT-CO2 Oral Cancer Asian Indian-Marathi
20050928001 7861 T-C syn MT-CO2 Encephalomyopathy Caucasian
20060518007 7864 C-T syn MT-CO2 Epilepsy -
20040713009 7910 G-C E-Q MT-CO2 Esophageal Cancer Asian
20040713012 7912 G-C E-D MT-CO2 Esophageal Cancer Asian
20041210006 7954 T-C syn MT-CO2 Oral Cancer Asian Indian
20040713004 7961 T-C syn MT-CO2 Oral Cancer Asian
20041210014 7961 T-C syn MT-CO2 Oral Cancer Asian Indian
20010828017 7963 A-G syn MT-CO2 Sporadic Parathyroid Adenoma -
20041210012 7993 T-C syn MT-CO2 Oral Cancer Asian Indian
20041210008 7999 T-C syn MT-CO2 Oral Cancer Asian Indian-Marathi
20060518001 8084 A-T T-A MT-CO2 Myoclonic Epilepsy Caucasian
20041210005 8137 C-T syn MT-CO2 Oral Cancer Asian Indian-Muslim
20090129007 8137 C-T syn MT-CO2 COPD Caucasian
20041210001 8158 A-G syn MT-CO2 Oral Cancer Asian Indian-Bengali
19990316032 8205 T-A M-K MT-CO2 - -
20041210010 8206 G-A syn MT-CO2 Oral Cancer Asian Indian
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
20070724011 8248 A-G syn MT-CO2 Leigh Syndrome Caucasian/Africain
20041210002 8251 G-A syn MT-CO2 Oral Cancer Asian Indian-Bengali
20041210011 8266 A-T syn MT-CO2 Oral Cancer Asian Indian-Gujarati
20050813005 8271 A-G noncod MT-NC7 Normal Arabs
20040607001 8271 A-G noncod MT-NC7 Subfertile -
20040608002 8309 C-T noncod MT-TK Subfertile Caucasian
20040608003 8350 A-G noncod MT-TK - Caucasian
20070724012 8380 T-C syn MT-ATP8 Leigh Syndrome Caucasian/Africain
20040210011 8386 C-T syn MT-ATP8 NAION Arabs
20040608004 8388 T-C V-A MT-ATP8 - Caucasian
20060518002 8389 A-G syn MT-ATP8 - Caucasian
20070724013 8411 A-G M-V MT-ATP8 Leigh Syndrome Caucasian/Africain
20021231004 8414 C-T L-F MT-ATP8 MERRF Caucasian
20021231005 8431 C-T S-L MT-ATP8 MERRF Caucasian
20060803001 8463 A-G Y-C MT-ATP8 Down's syndrome Belarusian
19990308001 8519 G-A E-K MT-ATP8 MELAS plus other symptoms -
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 . .
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
20040210012 8559 C-T syn MT-ATP6 NAION Arabs
20040210026 8559 C-T P-L MT-ATP8 NAION Arabs
20050809008 8566 A-G syn MT-ATP8 Normal Arabs
20050809009 8566 A-G I-V MT-ATP6 Normal Arabs
20060130004 8573 G-A G-D MT-ATP6 Encephalopathy Caucasian
20040210013 8577 A-G syn MT-ATP6 NAION Arabs
19990308004 8584 G-A A-T MT-ATP6 DIDMOAD Asian
20050809010 8587 G-A V-M MT-ATP6 Normal Arabs
20050917001 8598 T-C syn MT-ATP6 Myoclonic Epilepsy Caucasian
20010828018 8602 T-C F-L MT-ATP6 Sporadic Parathyroid Adenoma -
20080117003 8649 A-G syn MT-ATP6 Deafness Caucasian/Africain
20080120004 8682 A-G syn MT-ATP6 Leigh-like syndrome Caucasian/Africain
20050809011 8684 C-T T-I MT-ATP6 Normal Arabs
20050809012 8701 A-G T-A MT-ATP6 Normal Arabs
20050609001 8705 T-C M-T MT-ATP6 Myopathy Caucasian
20070327001 8741 T-G L-R MT-ATP6 Normal Arabs
20051007007 8750 T-C L-S MT-ATP6 Myopathy Caucasian
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
20090710001 8820 A-G syn MT-ATP6 Infertility Caucasian
19990316033 8857 G-T G-C MT-ATP6 - -
20080111001 8860 A-G T-A MT-ATP6 Abdominal Aortic Aneurysm Caucasian
19991118002 8860 A-G T-A MT-ATP6 Control Unknown
19991118003 8860 A-G T-A MT-ATP6 Control Unknown
19991118001 8860 A-G T-A MT-ATP6 Subfertile Unknown
20090609002 8862 A-G syn MT-ATP6 Epilepsy Iranian
20040210014 8865 G-A syn MT-ATP6 NAION Arabs
20050916001 8867 T-C I-T MT-ATP6 Myoclonic Epilepsy, bilateral ptosis Caucasian
20050919033 8877 T-A F-L MT-ATP6 Normal Arabs
20051007003 8901 A-G syn MT-ATP6 Encephalomyopathy Caucasian
20030723001 8932 C-T P-S MT-ATP6 Encephalomyopathy plus other symptoms Caucasian
19990316034 8932 C-T P-S MT-ATP6 - -
20010828020 8953 A-G I-V MT-ATP6 Sporadic Parathyroid Adenoma -
20000825006 8957 T-C I-T MT-ATP6 Pancreatic Cancer Caucasian
20010828021 8987 A-G M-V MT-ATP6 Sporadic Parathyroid Adenoma -
20090529005 9007 A-T T-S MT-ATP6 Infertility Africain/caucasian
19990721002 9007 A-G T-A MT-ATP6 MELAS-like Caucasian
20070327005 9012 T-G syn MT-ATP6 Leigh Syndrome Arabs
20070327003 9024 A-G syn MT-ATP6 Normal Arabs
19990511001 9053 G-A syn MT-ATP6 Normal Chinese
19991118005 9055 G-A A-T MT-ATP6 Subfertile Unknown
20080729001 9058 A-G T-A MT-ATP6 Normal Caucasian
20070612004 9103 T-C F-L MT-ATP6 Normal Saudi Arabs
20070327006 9111 T-C syn MT-ATP6 Leigh Syndrome Arabs
19991118004 9150 G-A syn MT-ATP6 Control Unknown
19991118013 9150 A-G syn MT-ATP6 Control Unknown
20040811001 9152 T-C I-T MT-ATP6 - -
20040811002 9163 G-A V-I 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
20090129008 9242 A-G syn MT-CO3 COPD Caucasian
20030918002 9254 A-G syn MT-CO3 Liver Cancer Asian
19990323003 9254 A-G syn MT-CO3 Myopathy Caucasian
19990323002 9293 C-T syn MT-CO3 Ophthalmoplegia,Deafness Caucasian
20030925001 9300 G-A A-T MT-CO3 Myopathy Caucasian
20080117004 9329 G-A syn MT-CO3 Deafness Caucasian/Africain
20080120001 9335 C-T syn MT-CO3 KSS Caucasian/Africain
20050809013 9337 T-C M-T MT-CO3 Normal Arabs
20060518003 9338 A-G syn MT-CO3 Myopathy Caucasian
19991118010 9377 G-A syn MT-CO3 Subfertile Unknown
19990323001 9380 G-A syn MT-CO3 Myopathy Caucasian
19991118009 9380 G-A syn MT-CO3 Subfertile Unknown
20021231011 9410 A-G syn MT-CO3 Myopathy Caucasian
20080414004 9425 A-G syn MT-CO3 Hypertrophic Cardiomyopathy Caucasian
20010828024 9426 C-T P-S MT-CO3 Sporadic Parathyroid Adenoma -
20010828022 9426 C-T P-S MT-CO3 Sporadic Parathyroid Adenoma -
20070612005 9438 G-A G-S MT-CO3 Normal Saudi Arabs
20080117005 9467 T-C syn MT-CO3 Deafness Caucasian/Africain
19991118007 9477 G-A V-I MT-CO3 Subfertile Unknown
19991118006 9477 G-A V-I MT-CO3 Control unknown
20050919034 9477 G-A V-I MT-CO3 Normal Arabs
20080117006 9495 T-C F-L MT-CO3 Deafness Caucasian/Africain
20031029002 9509 T-C syn MT-CO3 LHON Arabs
20030918003 9530 T-C syn MT-CO3 Liver Cancer Asian
20050809014 9539 A-T Q-H MT-CO3 Normal Arabs
19990218008 9545 A-G syn MT-CO3 LHON Hispanic
19991118008 9548 G-A syn MT-CO3 Subfertile unknown
20090129009 9590 A-G syn MT-CO3 COPD Caucasian
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
20010828025 9656 T-C syn MT-CO3 Sporadic Parathyroid Adenoma -
20050813018 9675 A-C N-H MT-CO3 Normal Arabs
20031029003 9794 A-G syn MT-CO3 LHON Arabs
20090129010 9806 C-T syn MT-CO3 COPD Caucasian
20040912003 9822 C-T L-F MT-CO3 Normal Arabs
20090129011 9869 C-G syn MT-CO3 COPD Caucasian
19991118011 9899 T-C syn MT-CO3 Control Unknown
20090129013 9933 C-A H-N MT-CO3 COPD Caucasian
19991118012 9941 A-G syn MT-CO3 Subfertile Unknown
20090129014 9987 T-A S-T MT-CO3 COPD Caucasian
20050813019 10031 T-C noncod MT-TG Normal Arabs
20050813006 10034 T-C noncod MT-TG Normal Arabs
20000825012 10044 A-G noncod MT-TG Pancreatic Cancer Caucasian
20050919035 10079 A-C L-F MT-ND3 Normal Arabs
20070327007 10098 G-A A-T MT-ND3 Deafness Arabs
20001017011 10115 T-C syn MT-ND3 Lung Cancer Caucasian
20050809015 10143 G-A G-S MT-ND3 Normal Arabs
20030918004 10153 A-C E-A MT-ND3 Liver Cancer Asian
20050813007 10159 C-G S-C MT-ND3 Normal Arabs
20050928002 10230 G-C V-L MT-ND3 Optic Neuropathy, visual loss Caucasian
20050919021 10238 T-C syn MT-ND3 Normal Arabs
20050919022 10262 A-G syn MT-ND3 Normal Arabs
20070327008 10265 T-C syn MT-ND3 Leigh Syndrome Arabs
20040713014 10282 T-A L-Q MT-ND3 Esophageal Cancer Asian
20040317004 10289 A-G syn MT-ND3 Normal Saudi Arab
20080117008 10308 C-T syn MT-ND3 Deafness Caucasian/Africain
20010828026 10325 G-A syn MT-ND3 Sporadic Parathyroid Adenoma -
20050919036 10398 A-G T-A MT-ND3 Normal Arabs
20010424004 10522 G-A G-E MT-ND4L Sporadic Parathyroid Adenoma -
20091228001 10649 T-C syn MT-ND4L NSHL Caucasian
20001017010 10667 T-C syn MT-ND4L Lung Cancer African/American
20050809016 10668 G-A A-T MT-ND4L Normal Arabs
20081022001 10680 G-A A-T MT-ND4L LHON Han Chinese
20001017003 10688 G-A syn MT-ND4L Lung Cancer African/American
20010303007 10707 T-G S-A MT-ND4L Breast Cancer Caucasian
20010828027 10754 A-C syn MT-ND4L Sporadic Parathyroid Adenoma -
20010828028 10775 A-G V-I MT-ND4 Sporadic Parathyroid Adenoma -
20001017002 10810 T-C syn MT-ND4 Lung Cancer African/American
20040209024 10811 T-C S-P MT-ND4 Oral Cancer SINDHI
20040209025 10812 C-T S-F MT-ND4 Oral Cancer SINDHI
20040209026 10814 A-C K-Q MT-ND4 Oral Cancer SINDHI
20091229017 10816 A-G syn MT-ND4 Breast Cancer Africain
20001017009 10816 A-G syn MT-ND4 Lung Cancer African/American
20040209001 10817 A-T K-Term MT-ND4 Oral Cancer GUJARATI
20040209044 10823 A-G M-V MT-ND4 Normal MARATHI
20040209011 10826 A-G I-V MT-ND4 Oral Cancer MARATHI
20091229018 10837 C-T syn MT-ND4 Breast Cancer Africain
20040209028 10845 C-T T-I MT-ND4 Oral Cancer SINDHI
20040209014 10850 A-C S-R MT-ND4 Oral Cancer MARATHI
19990316035 10873 T-C syn MT-ND4 - -
20040209002 10873 T-C syn MT-ND4 Oral Cancer Asian Indian
19990316036 10876 A-G syn MT-ND4 - -
20050813008 10883 T-A F-I MT-ND4 Normal Arabs
20050813009 10885 T-A F-L MT-ND4 Normal Arabs
20040209036 10969 C-T syn MT-ND4 Oral Cancer MARATHI
19990316037 10978 A-G syn MT-ND4 - -
20030918005 11015 A-G S-G MT-ND4 Liver Cancer Asian
19990316038 11016 G-A S-N MT-ND4 - -
20040209003 11016 G-A S-N MT-ND4 Oral Cancer Asian Indian
20040209030 11023 A-G syn MT-ND4 Oral Cancer Asian Indian
20040209016 11047 C-A syn MT-ND4 Oral Cancer MUSLIM
20040209054 11050 T-C syn MT-ND4 Normal GUJARATI
20040209037 11054 C-A L-M MT-ND4 Oral Cancer MARATHI
20040209038 11067 A-T Q-L MT-ND4 Oral Cancer MARATHI
20040209039 11070 T-A I-N MT-ND4 Oral Cancer MARATHI
20040209040 11073 C-T S-F MT-ND4 Oral Cancer MARATHI
20040209041 11074 C-T syn MT-ND4 Oral Cancer MARATHI
20040209012 11075 T-C syn MT-ND4 Oral Cancer MARATHI
20040209004 11083 A-G syn MT-ND4 Oral Cancer Asian Indian
20040209051 11083 A-G syn MT-ND4 Normal MARATHI
20010301001 11087 T-C F-L MT-ND4 - Caucasian
20040209015 11140 C-G I-M MT-ND4 Oral Cancer MARATHI
20001017008 11152 T-C syn MT-ND4 Lung Cancer Arabs
19990316039 11167 A-G syn MT-ND4 - -
20001017006 11176 G-A syn MT-ND4 Lung Cancer African/American
20000825007 11177 C-T P-S MT-ND4 Pancreatic Cancer Caucasian
20040209031 11215 C-T syn MT-ND4 Oral Cancer Asian Indian
20051225001 11260 T-A syn MTND4 LHON Caucasian
20060122001 11260 T-A syn MTND4 Mitochondrial Myopathy Caucasian
20091229019 11287 T-C syn MT-ND4 Breast Cancer Africain
20001017004 11302 C-T syn MT-ND4 Lung Cancer African/American
20040209047 11314 A-C E-D MT-ND4 Normal GUJARATI
20091229020 11329 A-G syn MT-ND4 Breast Cancer Africain
20040209033 11332 C-T syn MT-ND4 Oral Cancer Asian Indian
20070612006 11337 A-G N-S MT-ND4 Normal Saudi Arabs
20040209032 11339 T-C syn MT-ND4 Oral Cancer Asian Indian
20040210022 11362 A-G syn MT-ND4 NAION Arabs
20080120002 11362 A-G syn MT-ND4 KSS Caucasian/Africain
20040317005 11399 T-C syn MT-ND4 Normal Saudi Arab
20040825001 11404 A-G syn MT-ND4 Postural Tachycardia Syndrome (POTS) Caucasian
20040713005 11407 C-T syn MT-ND4 Oral Cancer Asian
20040210023 11422 C-T syn MT-ND4 NAION Arabs
20040317006 11440 G-A syn MT-ND4 Normal Saudi Arab
20040209050 11467 A-G syn MT-ND4 Normal MARATHI
20040209018 11467 A-G syn MT-ND4 Oral Cancer Asian Indian
19990316040 11470 A-G syn MT-ND4 - -
20070527008 11503 C-G syn MT-ND4 Breast Cancer Caucasian
20040209017 11506 T-C syn MT-ND4 Oral Cancer MUSLIM
20040209023 11518 G-A syn MT-ND4 Oral Cancer MALAYALI
20040209042 11530 A-G M-Term MT-ND4 Oral Cancer MARATHI
20070527006 11567 A-G I-V MT-ND4 Breast Cancer Caucasian
20010828029 11617 T-C syn MT-ND4 Sporadic Parathyroid Adenoma -
20040317015 11620 A-G syn MT-ND4 Normal Saudi Arab
20001017007 11641 A-G syn