MITOMAP: Reported Mitochondrial DNA Base Substitution Diseases: rRNA/tRNA mutations

Last Edited: Jan 23, 2023

The GB frequency data in Mitomap is derived from 59389 GenBank sequences with size greater than 15.4kbp and 78884 Control Region sequences with size 0.4-1.6kbp. These sequences have been pre-loaded into Mitomaster and represent almost all haplogroups known to date. We will be updating and refining this set of sequences on a regular basis. As a caveat, please note that GenBank sequences may not be of equal quality (Yao, et al, 2009), that some of these sequences are from individuals with past, current or future disease, and that this portion of our data set has not been hand-curated by Mitomap.

For more details about the current GenBank sequence set, please see https://www.mitomap.org/MITOMAP/GBFreqInfo.

For information about the predictive MitoTIP scoring for tRNA variants, see MitoTIP Info.

Locus Disease Allele RNA Homo-plasmy Hetero-Plasmy Status References
576,"MT-CR","Hearing loss patient","A576G","noncoding MT-TF precursor","nr","nr","Reported","N/A","0.005%
(0.008%)","3 (6)","1"578,"MT-TF","Unspecified patient from clinical lab / MS","T578C","tRNA Phe","nr","+","Reported","78.30% ","0.000%
(0.000%)","0 (0)","2"582,"MT-TF","Mitochondrial myopathy","T582C","tRNA Phe","-","+","Reported","72.90% ","0.000%
(0.000%)","0 (0)","3"583,"MT-TF","MELAS / MM & EXIT","G583A","tRNA Phe","-","+","Cfrm [VUS*]","Pathogenic ","0.000%
(0.000%)","0 (0)","5"586,"MT-TF","Extrapyramidal disorder with akinesia-rigidity, psychosis and SNHL","G586A","tRNA Phe","-","+","Reported","89.70% ","0.000%
(0.000%)","0 (0)","3"590,"MT-TF","EXIT+ataxia+RP","A590G","tRNA Phe","-","+","Reported","16.30% ","0.000%
(0.000%)","0 (0)","1"591,"MT-TF","Gitelman-like syndrome","C591T","tRNA Phe","+","-","Reported","7.20% ","0.000%
(0.000%)","0 (0)","1"593,"MT-TF","Nonsyndromic hearing loss / LHON","T593C","tRNA Phe","+","-","Reported","0.80% ","0.470% 
(0.000%)","279 (0)","7"602,"MT-TF","Axial myopathy with encephalopathy","C602T","tRNA Phe","-","+","Reported","85.90% ","0.000%
(0.000%)","0 (0)","2"606,"MT-TF","Myoglobinuria","A606G","tRNA Phe","+","+","Unclear","64.90% ","0.037%
(0.000%)","22 (0)","5"608,"MT-TF","Tubulo-interstitial nephritis","A608G","tRNA Phe","+","-","Reported","65.00% ","0.000%
(0.000%)","0 (0)","3"611,"MT-TF","MERRF","G611A","tRNA Phe","nr","+","Reported","51.20% ","0.000%
(0.000%)","0 (0)","4"616,"MT-TF","Maternally inherited epilepsy / mito tubulointerstitial kidney disease (MITKD) / Gitelman-like syndrome","T616C","tRNA Phe","+","+","Cfrm [LP]","Pathogenic ","0.002%
(0.000%)","1 (0)","6"616,"MT-TF","Maternally inherited epilepsy","T616G","tRNA Phe","+","+","Reported","95.60% ","0.002%
(0.000%)","1 (0)","1"617,"MT-TF","Carotid artery stenosis","G617A","tRNA Phe","-","+","Reported","81.70% ","0.000%
(0.000%)","0 (0)","1"618,"MT-TF","MM","T618C","tRNA Phe","-","+","Reported","65.80% ","0.000%
(0.000%)","0 (0)","3"618,"MT-TF","Ptosis CPEO MM & EXIT","T618G","tRNA Phe","-","+","Reported","77.50% ","0.000%
(0.000%)","0 (0)","1"622,"MT-TF","EXIT & Deafness","G622A","tRNA Phe","-","+","Reported","41.50% ","0.000%
(0.000%)","0 (0)","3"625,"MT-TF","SNHL & Epilepsy","G625A","tRNA Phe","-","+","Reported","81.30% ","0.000%
(0.000%)","0 (0)","1"628,"MT-TF","DEAF","C628T","tRNA Phe","-","+","Reported","34.80% ","0.005%
(0.000%)","3 (0)","2"636,"MT-TF","DEAF","A636G","tRNA Phe","+","-","Reported","1.30% ","0.034%
(0.000%)","20 (0)","3"641,"MT-TF","Epileptic Encephalopathy","A641T","tRNA Phe","-","+","Reported","69.00% ","0.000%
(0.000%)","0 (0)","1"642,"MT-TF","Ataxia, PEO, deafness","T642C","tRNA Phe","-","+","Reported","67.60% ","0.000%
(0.000%)","0 (0)","1"643,"MT-TF","Gitelman-like syndrome","A643G","tRNA Phe","+","-","Reported","38.20% ","0.000%
(0.000%)","0 (0)","1"653,"MT-RNR1","Atherosclerosis risk","G653del","12S rRNA","-","+","Reported","N/A","0.000%
(0.000%)","0 (0)","2"653,"MT-RNR1","Atherosclerosis study","G653GG","12S rRNA","-","+","Reported","N/A","0.000%
(0.000%)","0 (0)","1"663,"MT-RNR1","Coronary atherosclerosis risk","A663G","12S rRNA","+","-","Reported","N/A","2.915% 
(0.000%)","1731 (0)","1"669,"MT-RNR1","DEAF","T669C","12S rRNA","+","-","Reported","N/A","0.182%
(0.000%)","108 (0)","4"721,"MT-RNR1","Possibly LVNC-associated","T721C","12S rRNA","+","-","Reported","N/A","0.231%
(0.000%)","137 (0)","1"735,"MT-RNR1","DEAF","A735G","12S rRNA","nr","nr","Reported","N/A","0.130%
(0.000%)","77 (0)","2"745,"MT-RNR1","DEAF-associated","A745G","12S rRNA","+","-","Reported","N/A","0.064%
(0.000%)","38 (0)","1"750,"MT-RNR1","SZ-associated","A750A","12S rRNA","+","-","Reported","N/A","1.728%
(0.000%)","1026 (0)","3"773,"MT-RNR1","Possible association with sepsis","T773C","12S rRNA","-","+","Reported","N/A","0.007%
(0.000%)","4 (0)","2"792,"MT-RNR1","Increased risk of nonsyndromic deafness","C792T","12S rRNA","+","-","Reported","N/A","0.008%
(0.000%)","5 (0)","1"801,"MT-RNR1","DEAF-associated","A801G","12S rRNA","+","-","Reported","N/A","0.012%
(0.000%)","7 (0)","1"827,"MT-RNR1","DEAF","A827G","12S rRNA","+","-","Conflicting reports","N/A","2.657% 
(0.000%)","1578 (0)","18"839,"MT-RNR1","DEAF-associated","A839G","12S rRNA","+","-","Reported","N/A","0.012%
(0.000%)","7 (0)","1"850,"MT-RNR1","Possibly LVNC-associated","T850C","12S rRNA","+","-","Reported","N/A","0.205% 
(0.000%)","122 (0)","1"856,"MT-RNR1","LHON helper / AD / DEAF-associated","A856G","12S rRNA","+","-","Reported","N/A","0.030%
(0.000%)","18 (0)","3"869,"MT-RNR1","found in 1 HCM patient","C869T","12S rRNA","+","-","Reported","N/A","0.126%
(0.000%)","75 (0)","1"921,"MT-RNR1","Possibly LVNC-associated","T921C","12S rRNA","+","-","Reported","N/A","0.722% 
(0.000%)","429 (0)","2"955,"MT-RNR1","Possible association with sepsis","A955C","12S rRNA","-","+","Reported","N/A","0.005%
(0.000%)","3 (0)","1"960,"MT-RNR1","Possibly DEAF-associated","C960del","12S rRNA","+","-","Reported","N/A","0.088%
(0.000%)","52 (0)","1"960,"MT-RNR1","Possibly DEAF-associated","C960CC","12S rRNA","+","-","Reported","N/A","0.647% 
(0.000%)","384 (0)","5"961,"MT-RNR1","DEAF, possibly LVNC-associated","T961C","12S rRNA","+","-","Unclear","N/A","0.913% 
(0.000%)","542 (0)","9"961,"MT-RNR1","DEAF / AD-associated / intellectual disability","T961delT+ / -C(n)ins","12S rRNA","+","+","Unclear","N/A","0.000%
(0.000%)","0 (0)","21"961,"MT-RNR1","Possibly DEAF-associated","T961G","12S rRNA","+","-","Unclear","N/A","0.362% 
(0.000%)","215 (0)","7"965,"MT-RNR1","DEAF","T965TC","12S rRNA","+","-","Unclear","N/A","0.002%
(0.000%)","1 (0)","12"988,"MT-RNR1","Possible DEAF risk factor","G988A","12S rRNA","nr","nr","Reported","N/A","0.079%
(0.000%)","47 (0)","1"990,"MT-RNR1","DEAF","T990C","12S rRNA","+","-","Reported","N/A","0.061%
(0.000%)","36 (0)","1"1005,"MT-RNR1","DEAF","T1005C","12S rRNA","+","-","Unclear","N/A","0.443% 
(0.000%)","263 (0)","5"1027,"MT-RNR1","DEAF-associated","A1027G","12S rRNA","+","-","Reported","N/A","0.029%
(0.000%)","17 (0)","1"1095,"MT-RNR1","SNHL","T1095C","12S rRNA","+","+","Unclear","N/A","0.109%
(0.000%)","65 (0)","16"1116,"MT-RNR1","DEAF","A1116G","12S rRNA","+","-","Reported","N/A","0.019%
(0.000%)","11 (0)","2"1119,"MT-RNR1","Possible role in high altitude sickness","T1119C","12S rRNA","nr","nr","Reported","N/A","0.527% 
(0.000%)","313 (0)","1"1180,"MT-RNR1","Possibly DEAF-associated","T1180G","12S rRNA","+","-","Reported","N/A","0.000%
(0.000%)","0 (0)","2"1192,"MT-RNR1","DEAF-associated","C1192A","12S rRNA","+","-","Reported","N/A","0.015%
(0.000%)","9 (0)","2"1192,"MT-RNR1","DEAF-associated","C1192T","12S rRNA","+","-","Reported","N/A","0.025%
(0.000%)","15 (0)","1"1226,"MT-RNR1","Possibly DEAF-associated","C1226G","12S rRNA","+","-","Reported","N/A","0.000%
(0.000%)","0 (0)","2"1291,"MT-RNR1","DEAF","T1291C","12S rRNA","+","-","Unclear","N/A","0.093%
(0.000%)","55 (0)","3"1310,"MT-RNR1","DEAF-associated","C1310T","12S rRNA","+","-","Reported","N/A","0.066%
(0.000%)","39 (0)","1"1331,"MT-RNR1","DEAF-associated","A1331G","12S rRNA","+","-","Reported","N/A","0.017%
(0.000%)","10 (0)","1"1349,"MT-RNR1","DEAF","T1349G","12S rRNA","-","+","Reported","N/A","0.000%
(0.000%)","0 (0)","1"1374,"MT-RNR1","DEAF-associated","A1374G","12S rRNA","+","-","Reported","N/A","0.002%
(0.000%)","1 (0)","2"1382,"MT-RNR1","Longevity / T2D susceptibility","A1382C","12S rRNA","+","-","Reported","N/A","0.327% 
(0.000%)","194 (0)","3"1391,"MT-RNR1","found in 1 HCM patient","T1391C","12S rRNA","+","+","Reported","N/A","0.210% 
(0.000%)","125 (0)","1"1420,"MT-RNR1","DEAF","T1420G","12S rRNA","+","+","Reported","N/A","0.000%
(0.000%)","0 (0)","1"1438,"MT-RNR1","SZ-associated","A1438A","12S rRNA","+","-","Reported","N/A","4.875%
(0.000%)","2895 (0)","3"1452,"MT-RNR1","DEAF-associated","T1452C","12S rRNA","+","-","Reported","N/A","0.088%
(0.000%)","52 (0)","1"1453,"MT-RNR1","Possible DEAF risk factor","A1453G","12S rRNA","nr","nr","Reported","N/A","0.182%
(0.000%)","108 (0)","1"1492,"MT-RNR1","DEAF","A1492C","12S rRNA","-","+","Reported","N/A","0.000%
(0.000%)","0 (0)","1"1494,"MT-RNR1","DEAF","C1494T","12S rRNA","+","-","Cfrm [LP]","N/A","0.007%
(0.000%)","4 (0)","31"1517,"MT-RNR1","DEAF","A1517C","12S rRNA","-","+","Reported","N/A","0.000%
(0.000%)","0 (0)","1"1537,"MT-RNR1","DEAF; intellectual disability","C1537T","12S rRNA","+","-","Reported","N/A","0.012%
(0.000%)","7 (0)","1"1544,"MT-RNR1","DEAF","A1544T","12S rRNA","+","-","Reported","N/A","0.000%
(0.000%)","0 (0)","2"1546,"MT-RNR1","DEAF","A1546T","12S rRNA","+","-","Reported","N/A","0.000%
(0.000%)","0 (0)","1"1554,"MT-RNR1","DEAF","G1554A","12S rRNA","+","-","Reported","N/A","0.000%
(0.000%)","0 (0)","1"1555,"MT-RNR1","DEAF; autism spectrum intellectual disability; possibly antiatherosclerotic","A1555G","12S rRNA","+","+","Cfrm [P]","N/A","0.141%
(0.000%)","84 (0)","153"1556,"MT-RNR1","found in 1 HCM patient","C1556T","12S rRNA","+","-","Reported","N/A","0.022%
(0.000%)","13 (0)","1"1575,"MT-RNR1","DEAF","T1575G","12S rRNA","+","-","Reported","N/A","0.000%
(0.000%)","0 (0)","1"1577,"MT-RNR1","DEAF","T1577G","12S rRNA","-","+","Reported","N/A","0.000%
(0.000%)","0 (0)","1"1606,"MT-TV","AMDF","G1606A","tRNA Val","-","+","Cfrm [VUS*]","Pathogenic ","0.000%
(0.000%)","0 (0)","5"1607,"MT-TV","Suspected mito disease","T1607C","tRNA Val","+","+","Reported","18.10% ","0.020%
(0.000%)","12 (0)","2"1612,"MT-TV","LVNC (left ventricular noncompaction)","C1612T","tRNA Val","+","-","Reported (VUS)","76.50% ","0.000%
(0.000%)","0 (0)","1"1616,"MT-TV","MELAS","A1616G","tRNA Val","nr","nr","Reported","36.70% ","0.002%
(0.000%)","1 (0)","1"1624,"MT-TV","Leigh Syndrome","C1624T","tRNA Val","+","-","Reported","68.70% ","0.000%
(0.000%)","0 (0)","6"1630,"MT-TV","MNGIE-like disease / MELAS","A1630G","tRNA Val","-","+","Cfrm [VUS*]","Pathogenic ","0.000%
(0.000%)","0 (0)","9"1640,"MT-TV","MELAS","A1640G","tRNA Val","+","+","Reported","6.70% ","0.003%
(0.000%)","2 (0)","1"1642,"MT-TV","MELAS","G1642A","tRNA Val","-","+","Reported","74.30% ","0.000%
(0.000%)","0 (0)","2"1643,"MT-TV","Late infantile onset fatal mito disease","A1643G","tRNA Val","+","+","Reported","42.00% ","0.002%
(0.000%)","1 (0)","2"1644,"MT-TV","Leigh Syndrome / HCM / MELAS","G1644A","tRNA Val","-","+","Cfrm [LP]","Pathogenic ","0.000%
(0.000%)","0 (0)","6"1644,"MT-TV","Adult Leigh Syndrome","G1644T","tRNA Val","-","+","Reported","48.40% ","0.000%
(0.000%)","0 (0)","1"1659,"MT-TV","Movement Disorder","T1659C","tRNA Val","-","+","Reported","69.60% ","0.000%
(0.000%)","0 (0)","2"1661,"MT-TV","Charcot Marie Tooth (CMT)","A1661G","tRNA Val","+","-","Reported","27.60% ","0.002%
(0.000%)","1 (0)","2"2156,"MT-RNR2","Possible association with sepsis","A2156AA","16S rRNA","-","+","Reported","N/A","0.345% 
(0.000%)","205 (0)","8"2158,"MT-RNR2","Reduced risk PD","T2158C","16S rRNA","nr","nr","Reported","N/A","0.413%
(0.000%)","245 (0)","2"2336,"MT-RNR2","Hypertrophic cardiomyopathy","T2336C","16S rRNA","+","-","Reported","N/A","0.000%
(0.000%)","0 (0)","2"2352,"MT-RNR2","Possibly LVNC-associated","T2352C","16S rRNA","+","-","Reported","N/A","2.399% 
(0.000%)","1425 (0)","3"2361,"MT-RNR2","Possibly LVNC-associated","G2361A","16S rRNA","+","-","Reported","N/A","0.241% 
(0.000%)","143 (0)","1"2492,"MT-RNR2","Possible association with sepsis","G2492A","16S rRNA","-","+","Reported","N/A","0.002%
(0.000%)","1 (0)","2"2639,"MT-RNR2","Rare mutation in a single POAG patient","C2639A","16S rRNA","+","-","Reported","N/A","0.002%
(0.000%)","1 (0)","1"2647,"MT-RNR2","Possible association with sepsis","G2647A","16S rRNA","-","+","Reported","N/A","0.002%
(0.000%)","1 (0)","2"2648,"MT-RNR2","Rett Syndrome","T2648C","16S rRNA","nr","nr","Reported","N/A","0.002%
(0.000%)","1 (0)","1"2706,"MT-RNR2","Increased risk of T2DM in haplogroup H","A2706A","16S rRNA","+","-","Reported","N/A","22.125%
(0.000%)","13140 (0)","1"2755,"MT-RNR2","Possibly LVNC-associated","A2755G","16S rRNA","+","-","Reported","N/A","0.450% 
(0.000%)","267 (0)","3"2806,"MT-RNR2","Possible association with sepsis","T2806A","16S rRNA","-","+","Reported","N/A","0.000%
(0.000%)","0 (0)","1"2835,"MT-RNR2","Rett Syndrome","C2835T","16S rRNA","-","+","Reported","N/A","0.116%
(0.000%)","69 (0)","2"3010,"MT-RNR2","Cyclic Vomiting Syndrome with Migraine / high altitude adaptation","G3010A","16S rRNA","+","-","Reported","N/A","15.269% 
(0.000%)","9068 (0)","9"3054,"MT-RNR2","Possible association with sepsis","G3054A","16S rRNA","-","+","Reported","N/A","0.000%
(0.000%)","0 (0)","2"3090,"MT-RNR2","Myopathy","G3090A","16S rRNA","-","+","Reported","N/A","0.003%
(0.000%)","2 (0)","1"3093,"MT-RNR2","MELAS","C3093G","16S rRNA","-","+","Reported","N/A","0.000%
(0.000%)","0 (0)","2"3096,"MT-RNR2","Possible association with sepsis","T3096C","16S rRNA","-","+","Reported","N/A","0.008%
(0.000%)","5 (0)","3"3098,"MT-RNR2","Possible association with sepsis","T3098C","16S rRNA","-","+","Reported","N/A","0.000%
(0.000%)","0 (0)","2"3111,"MT-RNR2","Migraine","A3111T","16S rRNA","+","-","Reported","N/A","0.010%
(0.000%)","6 (0)","1"3196,"MT-RNR2","ADPD","G3196A","16S rRNA","+","+","Reported","N/A","0.025%
(0.000%)","15 (0)","3"3236,"MT-TL1","Sporadic bilateral optic neuropathy / hearing loss","A3236G","tRNA Leu (UUR)","nr","nr","Reported","37.80% ","0.003%
(0.000%)","2 (0)","4"3242,"MT-TL1","MM / HCM+renal tubular dysfunction","G3242A","tRNA Leu (UUR)","+","+","Reported","18.50% ","0.000%
(0.000%)","0 (0)","7"3243,"MT-TL1","MELAS / Leigh Syndrome / DMDF / MIDD / SNHL / CPEO / MM / FSGS / ASD / Cardiac+multi-organ dysfunction","A3243G","tRNA Leu (UUR)","-","+","Cfrm [P]","Pathogenic ","0.017%
(0.000%)","10 (0)","447"3243,"MT-TL1","MM / MELAS / SNHL / CPEO","A3243T","tRNA Leu (UUR)","-","+","Cfrm [LP]","Pathogenic ","0.000%
(0.000%)","0 (0)","12"3244,"MT-TL1","MELAS","G3244A","tRNA Leu (UUR)","-","+","Reported","41.60% ","0.010%
(0.000%)","6 (0)","4"3249,"MT-TL1","KSS","G3249A","tRNA Leu(UUR)","-","+","Reported","39.30% ","0.000%
(0.000%)","0 (0)","3"3250,"MT-TL1","MM / CPEO / cardiomyopathy","T3250C","tRNA Leu (UUR)","-","+","Reported","33.40% ","0.002%
(0.000%)","1 (0)","13"3251,"MT-TL1","MM / MELAS with chorea-ballism","A3251G","tRNA Leu (UUR)","-","+","Reported","43.50% ","0.000%
(0.000%)","0 (0)","5"3252,"MT-TL1","MELAS","A3252G","tRNA Leu (UUR)","-","+","Reported","39.40% ","0.000%
(0.000%)","0 (0)","5"3252,"MT-TL1","EXIT","A3252T","tRNA Leu (UUR)","-","+","Reported","39.40% ","0.000%
(0.000%)","0 (0)","2"3253,"MT-TL1","Maternally inherited hypertension","T3253C","tRNA Leu (UUR)","+","-","Reported","0.40% ","0.012%
(0.000%)","7 (0)","4"3254,"MT-TL1","Gestational Diabetes (GDM)","C3254A","tRNA Leu (UUR)","-","+","Reported","60.80% ","0.054%
(0.000%)","32 (0)","1"3254,"MT-TL1","MM","C3254G","tRNA Leu (UUR)","-","+","Reported","60.80% ","0.000%
(0.000%)","0 (0)","4"3254,"MT-TL1","CPEO / poss. hypertension factor","C3254T","tRNA Leu (UUR)","+","-","Reported","25.30% ","0.029%
(0.000%)","17 (0)","5"3255,"MT-TL1","MERRF / KSS overlap","G3255A","tRNA Leu (UUR)","-","+","Reported","75.80% ","0.000%
(0.000%)","0 (0)","4"3256,"MT-TL1","MELAS; possible atherosclerosis risk","C3256T","tRNA Leu (UUR)","-","+","Cfrm [P]","Pathogenic ","0.000%
(0.000%)","0 (0)","21"3258,"MT-TL1","MELAS / Myopathy","T3258C","tRNA Leu (UUR)","-","+","Cfrm [LP]","Pathogenic ","0.002%
(0.000%)","1 (0)","5"3260,"MT-TL1","MMC / MELAS","A3260G","tRNA Leu (UUR)","-","+","Cfrm","Pathogenic ","0.000%
(0.000%)","0 (0)","13"3264,"MT-TL1","DM","T3264C","tRNA Leu (UUR)","-","+","Reported","47.30% ","0.000%
(0.000%)","0 (0)","3"3271,"MT-TL1","MELAS / DM","T3271C","tRNA Leu (UUR)","-","+","Cfrm","Pathogenic ","0.000%
(0.000%)","0 (0)","28"3273,"MT-TL1","PEM / retinal dystrophy in MELAS","T3273del","tRNA Leu (UUR)","-","+","Cfrm","Pathogenic ","0.000%
(0.000%)","0 (0)","2"3273,"MT-TL1","Ocular myopathy","T3273C","tRNA Leu (UUR)","-","+","Reported","71.20% ","0.000%
(0.000%)","0 (0)","2"3274,"MT-TL1","Encephalomyopathy with proteinuric kidney disease","3274_3275delAC","tRNA Leu (UUR)","-","+","Reported","-","0.000%
(0.000%)","0 (0)","1"3274,"MT-TL1","Neuropsychiatric syndrome + cataract","A3274G","tRNA Leu (UUR)","-","+","Reported","77.10% ","0.000%
(0.000%)","0 (0)","4"3275,"MT-TL1","LHON","C3275A","tRNA Leu (UUR)","+","-","Reported","2.20% ","0.003%
(0.000%)","2 (0)","4"3275,"MT-TL1","Metabolic syndrome and polycystic ovary syndrome / LHON","C3275T","tRNA Leu (UUR)","+","-","Reported","2.20% ","0.003%
(0.000%)","2 (0)","7"3277,"MT-TL1","Poss. hypertension factor","G3277A","tRNA Leu (UUR)","+","-","Reported","2.90% ","0.061%
(0.000%)","36 (0)","2"3278,"MT-TL1","Poss. hypertension factor","T3278C","tRNA Leu (UUR)","+","-","Reported","13.10% ","0.002%
(0.000%)","1 (0)","3"3280,"MT-TL1","Myopathy","A3280G","tRNA Leu (UUR)","-","+","Cfrm [VUS*]","Pathogenic ","0.000%
(0.000%)","0 (0)","6"3283,"MT-TL1","Late onset ocular myopathy","G3283A","tRNA Leu (UUR)","-","+","Reported","58.70% ","0.000%
(0.000%)","0 (0)","1"3287,"MT-TL1","Encephalomyopathy","C3287A","tRNA Leu (UUR)","-","+","Reported","38.30% ","0.000%
(0.000%)","0 (0)","2"3288,"MT-TL1","Myopathy","A3288G","tRNA Leu (UUR)","-","+","Reported","36.10% ","0.000%
(0.000%)","0 (0)","4"3290,"MT-TL1","Poss. hypertension factor","T3290C","tRNA Leu (UUR)","+","-","Reported","1.40% ","0.216% 
(0.000%)","128 (0)","4"3291,"MT-TL1","MELAS / Myopathy / Deafness+Cognitive Impairment","T3291C","tRNA Leu (UUR)","-","+","Cfrm [LP]","Pathogenic ","0.000%
(0.000%)","0 (0)","17"3302,"MT-TL1","MM","A3302G","tRNA Leu (UUR)","-","+","Cfrm [P]","Pathogenic ","0.000%
(0.000%)","0 (0)","12"3303,"MT-TL1","MMC","C3303T","tRNA Leu (UUR)","+","+","Cfrm [P]","Pathogenic ","0.000%
(0.000%)","0 (0)","21"4263,"MT-TI","Maternally inherited essential hypertension","A4263G","tRNA Ile","+","-","Reported","67.80% ","0.007%
(0.000%)","4 (0)","4"4267,"MT-TI","MM / CPEO","A4267G","tRNA Ile","-","+","Reported","71.10% ","0.000%
(0.000%)","0 (0)","4"4269,"MT-TI","FICP","A4269G","tRNA Ile","-","+","Reported","82.80% ","0.002%
(0.000%)","1 (0)","9"4274,"MT-TI","CPEO / Motor Neuron Disease","T4274C","tRNA Ile","-","+","Reported","85.50% ","0.000%
(0.000%)","0 (0)","6"4277,"MT-TI","HCM / Poss. hypertension factor","T4277C","tRNA Ile","+","-","Reported","8.90% ","0.034%
(0.000%)","20 (0)","3"4279,"MT-TI","Myoclonic epilepsy","A4279G","tRNA Ile","-","+","Reported","54.90% ","0.000%
(0.000%)","0 (0)","1"4281,"MT-TI","Recurrent Myoglobinuria","A4281G","tRNA Ile","-","+","Reported","87.90% ","0.002%
(0.000%)","1 (0)","1"4282,"MT-TI","CPEO Plus","G4282A","tRNA Ile","-","+","Reported","82.30% ","0.000%
(0.000%)","0 (0)","1"4284,"MT-TI","Varied familial presentation / spastic paraparesis","G4284A","tRNA Ile","-","+","Reported","35.30% ","0.003%
(0.000%)","2 (0)","7"4285,"MT-TI","CPEO","T4285C","tRNA Ile","-","+","Reported","84.80% ","0.000%
(0.000%)","0 (0)","6"4289,"MT-TI","Retinopathy+diabetes+dysphagia+cerebral atrophy","T4289C","tRNA Ile","-","+","Reported","84.30% ","0.000%
(0.000%)","0 (0)","1"4290,"MT-TI","Progressive Encephalopathy / PEO,myopathy","T4290C","tRNA Ile","+","+","Reported","47.70% ","0.000%
(0.000%)","0 (0)","5"4291,"MT-TI","Hypomagnesemic Metabolic Syndrome / Gitelman-like syndrome","T4291C","tRNA Ile","+","-","Reported","31.80% ","0.000%
(0.000%)","0 (0)","2"4295,"MT-TI","MHCM / Maternally inherited hypertension / Maternally inherited deafness","A4295G","tRNA Ile","+","+","Reported","44.00% ","0.189%
(0.000%)","112 (0)","13"4296,"MT-TI","Leigh Syndrome","G4296A","tRNA Ile","-","+","Reported","46.60% ","0.000%
(0.000%)","0 (0)","4"4298,"MT-TI","CPEO / MS","G4298A","tRNA Ile","-","+","Cfrm [VUS*]","Pathogenic ","0.000%
(0.000%)","0 (0)","11"4300,"MT-TI","MICM","A4300G","tRNA Ile","+","+","Cfrm [VUS*]","Pathogenic ","0.000%
(0.000%)","0 (0)","10"4301,"MT-TI","Patient with MELAS","A4301T","tRNA Ile","nr","nr","Reported","59.50% ","0.002%
(0.000%)","1 (0)","1"4302,"MT-TI","CPEO","A4302G","tRNA Ile","-","+","Reported","42.00% ","0.000%
(0.000%)","0 (0)","1"4308,"MT-TI","CPEO","G4308A","tRNA Ile","-","+","Cfrm [VUS*]","Pathogenic ","0.000%
(0.000%)","0 (0)","3"4309,"MT-TI","CPEO","G4309A","tRNA Ile","-","+","Reported","64.10% ","0.002%
(0.000%)","1 (0)","3"4314,"MT-TI","Poss. hypertension factor","T4314C","tRNA Ile","+","-","Reported","1.70% ","0.081%
(0.000%)","48 (0)","2"4316,"MT-TI","HCM with hearing loss / poss. hypertension factor","A4316G","tRNA Ile","+","+","Reported","37.10% ","0.015%
(0.000%)","9 (0)","4"4317,"MT-TI","Ptosis, deafness, stroke-like episodes","A4317del","tRNA Ile","nr","nr","Reported","2.10% ","0.020%
(0.000%)","12 (0)","3"4317,"MT-TI","FICP / poss. Hypertension / DEAF factor","A4317G","tRNA Ile","+","-","Reported","2.10% ","0.056%
(0.000%)","33 (0)","14"4320,"MT-TI","Mitochondrial Encephalocardiomyopathy","C4320T","tRNA Ile","-","+","Reported","25.60% ","0.007%
(0.000%)","4 (0)","5"4322,"MT-TI","mtDNA deletion and depletion with dilated cardiomyopathy","C4322del","tRNA Ile","+","-","Reported","88.10% ","0.000%
(0.000%)","0 (0)","1"4322,"MT-TI","Idiopathic Dilated Cardiomopathy","C4322CC","tRNA Ile","-","+","Reported","-","0.005%
(0.000%)","3 (0)","1"4327,"MT-TI","Ataxia+, with RRF and COX deficiency","T4327C","tRNA Ile","-","+","Reported","71.00% ","0.000%
(0.000%)","0 (0)","2"4332,"MT-TQ","Encephalopathy / MELAS","G4332A","tRNA Gln","-","+","Cfrm","Pathogenic ","0.000%
(0.000%)","0 (0)","4"4336,"MT-TQ","ADPD / Hearing Loss & Migraine / autism spectrum / intellectual disability","T4336C","tRNA Gln","+","+","Unclear","37.30% ","0.884% 
(0.000%)","525 (0)","28"4343,"MT-TQ","Poss. hypertension factor","A4343G","tRNA Gln","+","-","Reported","5.10% ","0.094%
(0.000%)","56 (0)","2"4345,"MT-TQ","Poss. hypertension factor","C4345T","tRNA Gln","+","-","Reported","13.20% ","0.008%
(0.000%)","5 (0)","1"4353,"MT-TQ","Poss. hypertension factor","T4353C","tRNA Gln","+","-","Reported","31.60% ","0.035%
(0.000%)","21 (0)","2"4363,"MT-TQ","Metabolic syndrome and polycystic ovary syndrome / possibly associated w DEAF + RP + dev delay / hypertension / LHON","T4363C","tRNA Gln","+","-","Reported","9.50% ","0.088%
(0.000%)","52 (0)","8"4369,"MT-TQ","Myopathy","A4369AA","tRNA Gln","-","+","Reported","-","0.000%
(0.000%)","0 (0)","2"4372,"MT-TQ","Suspected mito disease","C4372T","tRNA Gln","-","+","Reported","71.30% ","0.000%
(0.000%)","0 (0)","2"4373,"MT-TQ","Tic disorder / possibly LVNC-associated","T4373C","tRNA Gln","+","-","Reported","29.10% ","0.019%
(0.000%)","11 (0)","3"4375,"MT-TQ","Matrilineal hypertension risk factor","C4375T","tRNA Gln","nr","nr","Reported","17.30% ","0.015%
(0.000%)","9 (0)","1"4381,"MT-TQ","LHON","A4381G","tRNA Gln","+","-","Reported","15.30% ","0.007%
(0.000%)","4 (0)","3"4386,"MT-TQ","Heart disease / myopathy / hypertension","T4386C","tRNA Gln","+","-","Conflicting reports","6.90% ","0.317% 
(0.000%)","188 (0)","4"4387,"MT-TQ","Poss. hypertension factor","C4387A","tRNA Gln","+","-","Reported","12.80% ","0.003%
(0.000%)","2 (0)","1"4388,"MT-TQ","Poss. hypertension factor; intellectual disability","A4388G","tRNA Gln","+","-","Reported","0.10% ","0.111%
(0.000%)","66 (0)","3"4392,"MT-TQ","Poss. hypertension factor","C4392T","tRNA Gln","+","-","Reported","15.70% ","0.030%
(0.000%)","18 (0)","1"4395,"MT-TQ","Poss. hypertension factor","A4395G","tRNA Gln","+","-","Reported","0.20% ","0.045%
(0.000%)","27 (0)","3"4401,"MT-NC2","Hypertension+Ventricular Hypertrophy","A4401G","NC2 Gln-Met spacer","+","-","Reported","N/A","0.005%
(0.000%)","3 (0)","3"4403,"MT-TM","Mitochondrial myopathy","G4403A","tRNA Met","-","+","Reported","84.80% ","0.000%
(0.000%)","0 (0)","1"4409,"MT-TM","Mitochondrial myopathy","T4409C","tRNA Met","-","+","Reported","46.50% ","0.000%
(0.000%)","0 (0)","6"4410,"MT-TM","Poss. hypertension factor","C4410A","tRNA Met","+","-","Reported","32.90% ","0.000%
(0.000%)","0 (0)","1"4412,"MT-TM","Seizures with myopathy & retinopathy","G4412A","tRNA Met","-","+","Reported","76.50% ","0.000%
(0.000%)","0 (0)","1"4414,"MT-TM","Progressive external ophthalmoplegia and myopathy","T4414C","tRNA Met","-","+","Reported","86.40% ","0.000%
(0.000%)","0 (0)","1"4415,"MT-TM","EXIT & APS2","A4415G","tRNA Met","-","+","Reported","44.10% ","0.000%
(0.000%)","0 (0)","1"4435,"MT-TM","LHON / LHON modulator / hypertension; autism spectrum; intellectual disability / hearing loss","A4435G","tRNA Met","+","-","Reported","13.80% ","0.101%
(0.000%)","60 (0)","17"4437,"MT-TM","Hypotonia, seizure, muscle weakness, lactic acidosis, hearing loss","C4437T","tRNA Met","+","-","Reported","67.20% ","0.002%
(0.000%)","1 (0)","3"4440,"MT-TM","Mitochondrial myopathy","G4440A","tRNA Met","-","+","Reported","58.20% ","0.000%
(0.000%)","0 (0)","5"4450,"MT-TM","Myopathy / MELAS / Leigh Syndrome","G4450A","tRNA Met","-","+","Cfrm","Pathogenic ","0.000%
(0.000%)","0 (0)","4"4452,"MT-TM","Reported in tic disorder patient","T4452C","tRNA Met","nr","nr","Reported","7.20% ","0.204% 
(0.000%)","121 (0)","1"4454,"MT-TM","Possible contributor to mito dysfunction / hypertension","T4454C","tRNA Met","+","-","Reported","0.80% ","0.375%
(0.000%)","223 (0)","4"4456,"MT-TM","Poss. hypertension factor","C4456T","tRNA Met","-","+","Reported","32.00% ","0.013%
(0.000%)","8 (0)","2"4467,"MT-TM","Maternally inherited hypertension","C4467A","tRNA Met","-","+","Reported","75.60% ","0.000%
(0.000%)","0 (0)","1"5512,"MT-TW","Maternally inherited hypertension","A5512G","tRNA Trp","+","-","Reported","38.60% ","0.008%
(0.000%)","5 (0)","1"5513,"MT-TW","Mitochondrial encephalomyopathy with RP","G5513A","tRNA Trp","-","+","Reported","32.60% ","0.002%
(0.000%)","1 (0)","1"5514,"MT-TW","Neonatal onset mito disease","A5514G","tRNA Trp","+","-","Reported","19.70% ","0.077%
(0.000%)","46 (0)","2"5521,"MT-TW","Mitochondrial myopathy","G5521A","tRNA Trp","-","+","Cfrm [LP]","Pathogenic ","0.000%
(0.000%)","0 (0)","7"5522,"MT-TW","Mitochondrial myopathy","G5522A","tRNA Trp","-","+","Reported","83.00% ","0.000%
(0.000%)","0 (0)","2"5523,"MT-TW","Leigh Syndrome","T5523G","tRNA Trp","-","+","Reported","80.90% ","0.000%
(0.000%)","0 (0)","2"5532,"MT-TW","Gastrointestinal Syndrome","G5532A","tRNA Trp","-","+","Reported","19.40% ","0.002%
(0.000%)","1 (0)","3"5537,"MT-TW","Leigh Syndrome","A5537insT","tRNA Trp","-","+","Cfrm","-","0.000%
(0.000%)","0 (0)","6"5538,"MT-TW","Encephalomyopathy","G5538A","tRNA Trp","-","+","Reported [VUS]","76.70% ","0.000%
(0.000%)","0 (0)","3"5540,"MT-TW","Encephalomyopathy / DEAF","G5540A","tRNA Trp","-","+","Reported","73.70% ","0.000%
(0.000%)","0 (0)","4"5541,"MT-TW","MELAS+stroke-like episodes and cortical blindness+MRI shows occipital lobe infarct","C5541T","tRNA Trp","-","+","Reported","84.30% ","0.000%
(0.000%)","0 (0)","4"5543,"MT-TW","Mitochondrial myopathy","T5543C","tRNA Trp","-","+","Reported","47.30% ","0.000%
(0.000%)","0 (0)","8"5545,"MT-TW","HCM severe multisystem disorder","C5545T","tRNA Trp","-","+","Reported","53.00% ","0.000%
(0.000%)","0 (0)","1"5549,"MT-TW","DEMCHO / mitochondrial encephalomyopathy","G5549A","tRNA Trp","-","+","Reported","83.30% ","0.000%
(0.000%)","0 (0)","2"5556,"MT-TW","Combined OXPHOS defects","G5556A","tRNA Trp","-","+","Reported","44.50% ","0.000%
(0.000%)","0 (0)","2"5556,"MT-TW","Mito encephalomyopathy","G5556C","tRNA Trp","-","+","Reported","44.50% ","0.000%
(0.000%)","0 (0)","1"5558,"MT-TW","Reported in tic disorder patient / NSSNHL","A5558G","tRNA Trp","nr","nr","Reported [VUS]","31.70% ","0.180%
(0.000%)","107 (0)","2"5559,"MT-TW","Leigh Syndrome","A5559G","tRNA Trp","-","+","Reported","70.10% ","0.000%
(0.000%)","0 (0)","3"5567,"MT-TW","Myopathy","T5567C","tRNA Trp","-","+","Reported","32.70% ","0.098%
(0.000%)","58 (0)","3"5568,"MT-TW","DEAF","A5568G","tRNA Trp","+","-","Reported","9.70% ","0.017%
(0.000%)","10 (0)","2"5587,"MT-TA","LHON / possible DEAF modifier / MIDD / dilated cardiomyopathy / hypertension / tic disorder","T5587C","tRNA Ala","+","+","Reported","12.10% ","0.061%
(0.000%)","36 (0)","12"5591,"MT-TA","Myopathy","G5591A","tRNA Ala","-","+","Reported","68.40% ","0.000%
(0.000%)","0 (0)","4"5592,"MT-TA","Coronary Heart Disease","A5592G","tRNA Ala","+","-","Reported","0.40% ","0.049%
(0.000%)","29 (0)","2"5595,"MT-TA","Reported in tic disorder patient","G5595A","tRNA Ala","nr","nr","Reported","64.60% ","0.002%
(0.000%)","1 (0)","1"5601,"MT-TA","Possible 4435G helper in maternally inherited hypertension","C5601T","tRNA Ala","+","-","Reported","4.20% ","0.990% 
(0.000%)","588 (0)","6"5610,"MT-TA","Myopathy","G5610A","tRNA Ala","-","+","Reported","38.70% ","0.000%
(0.000%)","0 (0)","1"5613,"MT-TA","CPEO","T5613C","tRNA Ala","-","+","Reported","59.30% ","0.000%
(0.000%)","0 (0)","1"5618,"MT-TA","Hearing loss patient","T5618C","tRNA Ala","nr","nr","Reported","28.30% ","0.030%
(0.000%)","18 (0)","3"5628,"MT-TA","CPEO / DEAF enhancer / gout / tic disorder","T5628C","tRNA Ala","-","+","Reported","78.90% ","0.207% 
(0.000%)","123 (0)","7"5631,"MT-TA","Myopathy","G5631A","tRNA Ala","-","+","Reported","43.40% ","0.002%
(0.000%)","1 (0)","2"5636,"MT-TA","PEO","T5636C","tRNA Ala","-","+","Reported","73.50% ","0.000%
(0.000%)","0 (0)","1"5641,"MT-TA","Hearing loss patient","T5641C","tRNA Ala","nr","nr","Reported","28.40% ","0.015%
(0.000%)","9 (0)","2"5650,"MT-TA","Myopathy","G5650A","tRNA Ala","-","+","Cfrm [LP]","Pathogenic ","0.002%
(0.000%)","1 (0)","10"5652,"MT-TA","Dilated Cardiomyopathy","C5652G","tRNA Ala","+","-","Reported","69.90% ","0.000%
(0.000%)","0 (0)","1"5655,"MT-TA","DEAF enhancer / Hypertension risk","T5655C","tRNA Ala","+","-","Reported","26.70% ","0.613% 
(0.000%)","364 (0)","8"5658,"MT-TN","Mitochondrial myopathy","T5658C","tRNA Asn","-","+","Reported","94.30% ","0.000%
(0.000%)","0 (0)","1"5667,"MT-TN","Ptosis","G5667A","tRNA Asn","nr","nr","Reported","44.60% ","0.000%
(0.000%)","0 (0)","1"5669,"MT-TN","Sporadic CPEO","G5669A","tRNA Asn","-","+","Reported","88.50% ","0.000%
(0.000%)","0 (0)","1"5672,"MT-TN","EXIT+myalgia+CPEO with RRF","T5672C","tRNA Asn","-","+","Reported","20.80% ","0.000%
(0.000%)","0 (0)","2"5690,"MT-TN","CPEO+ptosis+proximal myopathy","A5690G","tRNA Asn","-","+","Cfrm [LP]","Pathogenic ","0.000%
(0.000%)","0 (0)","3"5692,"MT-TN","CPEO / MM","T5692C","tRNA Asn","-","+","Reported","46.60% ","0.002%
(0.000%)","1 (0)","4"5693,"MT-TN","Encephalomyopathy","T5693C","tRNA Asn","+","-","Reported","31.20% ","0.000%
(0.000%)","0 (0)","2"5698,"MT-TN","CPEO / MM","G5698A","tRNA Asn","-","+","Reported","47.70% ","0.002%
(0.000%)","1 (0)","4"5702,"MT-TN","Sporadic CPEO","A5702del","tRNA Asn","-","+","Reported","89.00% ","0.000%
(0.000%)","0 (0)","1"5703,"MT-TN","CPEO / MM","G5703A","tRNA Asn","-","+","Cfrm","Pathogenic ","0.002%
(0.000%)","1 (0)","11"5709,"MT-TN","Ophthalmoparesis+respiratory impairment","T5709C","tRNA Asn","-","+","Reported","49.80% ","0.000%
(0.000%)","0 (0)","1"5715,"MT-TN","Hearing loss patient","A5715G","tRNA Asn","nr","nr","Reported","12.50% ","0.022%
(0.000%)","13 (0)","1"5728,"MT-TN","Multiorgan failure / myopathy","T5728C","tRNA Asn","-","+","Cfrm","Pathogenic ","0.002%
(0.000%)","1 (0)","4"5774,"MT-TN","Reported in tic disorder patient","T5774C","tRNA Cys","nr","nr","Reported","0.70% ","0.104%
(0.000%)","62 (0)","1"5780,"MT-TC","SNHL","G5780A","tRNA Cys","-","+","Reported","35.50% ","0.032%
(0.000%)","19 (0)","2"5783,"MT-TC","Myopathy / deafness / gout / tic disorder","G5783A","tRNA Cys","-","+","Reported","66.90% ","0.071%
(0.000%)","42 (0)","5"5789,"MT-TC","Late-onset NARP","T5789C","tRNA Cys","-","+","Reported","77.30% ","0.000%
(0.000%)","0 (0)","1"5794,"MT-TC","Hearing loss/ tic disorder","T5794C","tRNA Cys","nr","nr","Reported","16.00% ","0.012%
(0.000%)","7 (0)","6"5802,"MT-TC","DEAF1555 increased penetrance / obesity risk","T5802C","tRNA Cys","+","-","Reported","58.90% ","0.002%
(0.000%)","1 (0)","7"5809,"MT-TC","Hearing loss patient","G5809A","tRNA Cys","nr","nr","Reported","68.70% ","0.002%
(0.000%)","1 (0)","3"5814,"MT-TC","Encephalopathy / gout","T5814C","tRNA Cys","-","+","Reported (L2b marker)","38.80% ","0.362% 
(0.000%)","215 (0)","12"5816,"MT-TC","Progressive Dystonia","A5816G","tRNA Cys","+","-","Reported","59.90% ","0.000%
(0.000%)","0 (0)","3"5819,"MT-TC","Reported in tic disorder patient","T5819C","tRNA Cys","nr","nr","Reported","16.70% ","0.000%
(0.000%)","0 (0)","1"5820,"MT-TC","MERRF","C5820A","tRNA Cys","+","-","Reported","68.10% ","0.000%
(0.000%)","0 (0)","1"5821,"MT-TC","DEAF helper mut.","G5821A","tRNA Cys","+","-","Reported","20.90% ","0.596% 
(0.000%)","354 (0)","6"5822,"MT-TC","Hearing loss patient","G5822A","tRNA Cys","nr","nr","Reported","30.40% ","0.010%
(0.000%)","6 (0)","3"5835,"MT-TY","Patient with proximal myopathy","G5835A","tRNA Tyr","nr","nr","Reported","54.70% ","0.002%
(0.000%)","1 (0)","1"5843,"MT-TY","FSGS / Mitochondrial Cytopathy","A5843G","tRNA Tyr","+","-","Reported","8.40% ","0.758% 
(0.000%)","450 (0)","2"5874,"MT-TY","EXIT","T5874G","tRNA Tyr","-","+","Reported","38.90% ","0.000%
(0.000%)","0 (0)","1"5877,"MT-TY","CPEO","C5877T","tRNA Tyr","-","+","Reported","24.80% ","0.000%
(0.000%)","0 (0)","1"5889,"MT-TY","Multisystem mitochondrial disorder","A5889G","tRNA Tyr","-","+","Reported","66.10% ","0.000%
(0.000%)","0 (0)","2"7445,"MT-TS1 precursor","DEAF","A7445C","tRNA Ser (UCN) precursor","+","-","Reported","-","0.029%
(0.000%)","17 (0)","7"7445,"MT-TS1 precursor","SNHL","A7445G","tRNA Ser (UCN) precursor","+","+","Cfrm [P]","-","0.002%
(0.000%)","1 (0)","43"7445,"MT-TS1 precursor","SNHL","A7445T","tRNA Ser (UCN) precursor","+","-","Reported","-","0.005%
(0.000%)","3 (0)","1"7451,"MT-TS1","CPEO+ptosis","A7451T","tRNA Ser (UCN) precursor","-","+","Reported","80.70% ","0.000%
(0.000%)","0 (0)","1"7453,"MT-TS1","Fatal neonatal lactic acidosis / Neonatal lactic acidosis, exercise intolerance, mild ID","G7453A","tRNA Ser (UCN)","+","-","Reported","68.00% ","0.000%
(0.000%)","0 (0)","3"7456,"MT-TS1","DEAF","A7456G","tRNA Ser (UCN)","+","-","Unclear","16.00% ","0.025%
(0.000%)","15 (0)","1"7458,"MT-TS1","PEO","G7458A","tRNA Ser (UCN)","-","+","Reported","86.00% ","0.000%
(0.000%)","0 (0)","1"7462,"MT-TS1","DEAF","C7462T","tRNA Ser (UCN)","+","-","Reported","11.20% ","0.010%
(0.000%)","6 (0)","1"7471,"MT-TS1","Maternally inherited hypertension / deafness","C7471del","tRNA Ser (UCN)","nr","nr","Reported (7466d)","4.30% ","0.022%
(0.000%)","13 (0)","3"7471,"MT-TS1","PEM / AMDF / Motor neuron disease-like","C7471CC","tRNA Ser (UCN)","+","+","Cfrm [P]","-","0.012%
(0.000%)","7 (0)","32"7472,"MT-TS1","MM / DMDF modulator","A7472C","tRNA Ser (UCN)","+","+","Reported","3.20% ","0.017%
(0.000%)","10 (0)","4"7472,"MT-TS1","PEM / AMDF / Motor neuron disease-like","A7472CA","tRNA Ser (UCN)","+","+","See 7471insC","-","0.000%
(0.000%)","0 (0)","1"7474,"MT-TS1","Hearing loss and epilepsy","A7474del","tRNA Ser (UCN)","nr","nr","Reported (7474d)","34.80% ","0.007%
(0.000%)","4 (0)","1"7474,"MT-TS1","Hearing loss patient","A7474G","tRNA Ser (UCN)","nr","nr","Reported","0.00% ","0.008%
(0.000%)","5 (0)","1"7480,"MT-TS1","MM","T7480G","tRNA Ser (UCN)","-","+","Reported","46.60% ","0.000%
(0.000%)","0 (0)","3"7486,"MT-TS1","CPEO","G7486A","tRNA Ser (UCN)","-","+","Reported","50.50% ","0.000%
(0.000%)","0 (0)","1"7492,"MT-TS1","Hypertension / hearing loss risk factor","C7492T","tRNA Ser (UCN)","+","-","Reported","0.10% ","0.017%
(0.000%)","10 (0)","2"7496,"MT-TS1","Hearing Loss","T7496C","tRNA Ser (UCN)","nr","nr","Reported","58.30% ","0.005%
(0.000%)","3 (0)","2"7497,"MT-TS1","MM / EXIT","G7497A","tRNA Ser (UCN)","+","+","Cfrm","Pathogenic ","0.002%
(0.000%)","1 (0)","8"7501,"MT-TS1","Cardiovascular disease; renal disease patient","T7501A","tRNA Ser (UCN)","nr","nr","Reported","1.90% ","0.002%
(0.000%)","1 (0)","3"7502,"MT-TS1","Reported in tic disorder patient","C7502T","tRNA Ser (UCN)","nr","nr","Reported","8.20% ","0.007%
(0.000%)","4 (0)","1"7505,"MT-TS1","Maternally inherited hearing loss","T7505C","tRNA Ser (UCN)","+","-","Reported","58.60% ","0.000%
(0.000%)","0 (0)","5"7506,"MT-TS1","PEO with hearing loss","G7506A","tRNA Ser (UCN)","-","+","Reported","81.40% ","0.000%
(0.000%)","0 (0)","1"7510,"MT-TS1","SNHL","T7510C","tRNA Ser (UCN)","-","+","Cfrm","Pathogenic ","0.002%
(0.000%)","1 (0)","14"7511,"MT-TS1","SNHL/Deafness","T7511C","tRNA Ser (UCN)","+","+","Cfrm [LP]","Pathogenic ","0.003%
(0.000%)","2 (0)","24"7512,"MT-TS1","PEM / MERME / MELAS","T7512C","tRNA Ser (UCN)","+","+","Reported","64.20% ","0.000%
(0.000%)","0 (0)","13"7519,"MT-TD","Deafness-associated","A7519del","tRNA Asp","nr","nr","Reported","36.90% ","0.003%
(0.000%)","2 (0)","2"7520,"MT-TD","Sporadic bilateral optic neuropathy","G7520A","tRNA Asp","nr","nr","Reported","54.90% ","0.000%
(0.000%)","0 (0)","2"7526,"MT-TD","Mitochondrial myopathy","A7526G","tRNA Asp","-","+","Reported","50.40% ","0.000%
(0.000%)","0 (0)","1"7539,"MT-TD","Multisystemic mitochondrial disorder","C7539T","tRNA Asp","-","+","Reported","93.70% ","0.000%
(0.000%)","0 (0)","2"7543,"MT-TD","MEPR","A7543G","tRNA Asp","-","+","Reported","67.30% ","0.089%
(0.000%)","53 (0)","3"7551,"MT-TD","DEAF increased penetrance (1555G helper)","A7551G","tRNA Asp","+","-","Reported","28.90% ","0.003%
(0.000%)","2 (0)","4"7554,"MT-TD","Myopathy+ataxia+nystagmus+migraines+lactic acidosis","G7554A","tRNA Asp","-","+","Reported","71.20% ","0.002%
(0.000%)","1 (0)","2"7566,"MT-TD","Unspecified patient from clinical lab","G7566A","tRNA Asp","nr","nr","Reported","65.60% ","0.000%
(0.000%)","0 (0)","1"8296,"MT-TK","DMDF / MERRF / HCM / epilepsy / hearing loss","A8296G","tRNA Lys","+","+","Reported","72.30% ","0.066%
(0.000%)","39 (0)","20"8299,"MT-TK","PEO + respiratory impairment","G8299A","tRNA Lys","-","+","Reported","63.80% ","0.000%
(0.000%)","0 (0)","2"8302,"MT-TK","Encephalopathy","A8302T","tRNA Lys","+","-","Unclear","15.20% ","0.000%
(0.000%)","0 (0)","1"8304,"MT-TK","Epilepsy+ataxia+visual disturbance+deafness","G8304A","tRNA Lys","-","+","Reported","89.70% ","0.000%
(0.000%)","0 (0)","1"8305,"MT-TK","Mitochondrial myopathy","C8305T","tRNA Lys","-","+","Reported","74.50% ","0.000%
(0.000%)","0 (0)","4"8306,"MT-TK","Severe adult-onset multisymptom myopathy / Myoclonic epilepsy","T8306C","tRNA Lys","-","+","Cfrm [VUS*]","Pathogenic ","0.000%
(0.000%)","0 (0)","3"8311,"MT-TK","Poss. hypertension factor","T8311C","tRNA Lys","+","-","Reported","6.80% ","0.111%
(0.000%)","66 (0)","2"8313,"MT-TK","MNGIE / Progressive mito cytopathy","G8313A","tRNA Lys","-","+","Cfrm","Pathogenic ","0.002%
(0.000%)","1 (0)","7"8315,"MT-TK","MERRF","A8315C","tRNA Lys","-","+","Reported","22.00% ","0.000%
(0.000%)","0 (0)","1"8316,"MT-TK","MELAS","T8316C","tRNA Lys","-","+","Reported","80.20% ","0.000%
(0.000%)","0 (0)","3"8319,"MT-TK","Kearns-Sayre syndrome","A8319G","tRNA Lys","-","+","Reported","69.60% ","0.000%
(0.000%)","0 (0)","2"8326,"MT-TK","Mitochondrial Cytopathy","A8326G","tRNA Lys","-","+","Reported","46.20% ","0.000%
(0.000%)","0 (0)","3"8328,"MT-TK","Mito Encephalopathy / EXIT with myopathy and ptosis","G8328A","tRNA Lys","-","+","Reported","83.30% ","0.000%
(0.000%)","0 (0)","6"8332,"MT-TK","Dystonia and stroke-like episodes","A8332G","tRNA Lys","+","-","Reported","62.80% ","0.000%
(0.000%)","0 (0)","1"8337,"MT-TK","Poss. hypertension factor","T8337C","tRNA Lys","+","-","Reported","6.80% ","0.295% 
(0.000%)","175 (0)","2"8339,"MT-TK","Hearing loss patient","A8339G","tRNA Lys","nr","nr","Reported","47.60% ","0.002%
(0.000%)","1 (0)","2"8340,"MT-TK","Myopathy / Exercise Intolerance / Eye disease+SNHL","G8340A","tRNA Lys","-","+","Cfrm","Pathogenic ","0.000%
(0.000%)","0 (0)","8"8342,"MT-TK","PEO and Myoclonus","G8342A","tRNA Lys","-","+","Reported","77.20% ","0.000%
(0.000%)","0 (0)","5"8343,"MT-TK","Metabolic syndrome and polycystic ovary syndrome / possible PD risk factor / deafness","A8343G","tRNA Lys","+","-","Reported","4.70% ","0.104%
(0.000%)","62 (0)","5"8344,"MT-TK","MERRF; Other - LD / depressive mood disorder / leukoencephalopathy / HiCM / lipomas","A8344G","tRNA Lys","-","+","Cfrm [P]","Pathogenic ","0.007%
(0.000%)","4 (0)","138"8346,"MT-TK","Rett Syndrome","C8346del","tRNA Lys","nr","nr","Reported","3.00% ","0.012%
(0.000%)","7 (0)","1"8347,"MT-TK","Poss. hypertension factor","A8347G","tRNA Lys","+","-","Reported","2.60% ","0.030%
(0.000%)","18 (0)","3"8348,"MT-TK","Cardiomyopathy / SNHL / poss. hypertension factor","A8348G","tRNA Lys","+","+","Reported","33.80% ","0.204%
(0.000%)","121 (0)","9"8355,"MT-TK","Myopathy","T8355C","tRNA Lys","-","+","Reported","67.20% ","0.000%
(0.000%)","0 (0)","2"8356,"MT-TK","MERRF","T8356C","tRNA Lys","-","+","Cfrm","Pathogenic ","0.000%
(0.000%)","0 (0)","12"8357,"MT-TK","Multiple symmetric lipomatosis","T8357C","tRNA Lys","-","+","Reported","59.10% ","0.002%
(0.000%)","1 (0)","1"8361,"MT-TK","MERRF","G8361A","tRNA Lys","-","+","Reported","64.80% ","0.000%
(0.000%)","0 (0)","3"8362,"MT-TK","Myopathy","T8362G","tRNA Lys","-","+","Reported","93.00% ","0.000%
(0.000%)","0 (0)","6"8363,"MT-TK","MICM+DEAF / MERRF / Autism / Leigh Syndrome / Ataxia","G8363A","tRNA Lys","-","+","Cfrm","Pathogenic ","0.000%
(0.000%)","0 (0)","23"9997,"MT-TG","Unspecified patient from clinical lab","T9997A","tRNA Gly","nr","nr","Reported","95.20% ","0.000%
(0.000%)","0 (0)","1"9997,"MT-TG","MHCM","T9997C","tRNA Gly","-","+","Reported","80.30% ","0.002%
(0.000%)","1 (0)","5"10000,"MT-TG","Multisystem mitochondrial disorder","G10000A","tRNA Gly","-","+","Reported","91.70% ","0.005%
(0.000%)","3 (0)","1"10003,"MT-TG","Hypertension / maternally inherited diabetes / hearing loss","T10003C","tRNA Gly","+","-","Reported","0.40% ","0.019%
(0.000%)","11 (0)","5"10005,"MT-TG","Hearing loss patient","A10005G","tRNA Gly","nr","nr","Reported","9.00% ","0.035%
(0.000%)","21 (0)","3"10006,"MT-TG","CIPO / Encephalopathy","A10006G","tRNA Gly","+","-","Unclear","19.30% ","0.017%
(0.000%)","10 (0)","5"10010,"MT-TG","PEM","T10010C","tRNA Gly","-","+","Cfrm [VUS*]","Pathogenic ","0.000%
(0.000%)","0 (0)","11"10014,"MT-TG","Myopathy","G10014A","tRNA Gly","+","-","Unclear","60.90% ","0.002%
(0.000%)","1 (0)","2"10019,"MT-TG","Hearing loss patient","C10019T","tRNA Gly","nr","nr","Reported","50.50% ","0.000%
(0.000%)","0 (0)","2"10044,"MT-TG","SIDS","A10044G","tRNA Gly","-","+","Unclear","34.70% ","0.308%
(0.000%)","183 (0)","9"10055,"MT-TG","Tic disorder patient / hearing loss patient","A10055G","tRNA Gly","nr","nr","Reported","29.70% ","0.019%
(0.000%)","11 (0)","5"10057,"MT-TG","Hearing loss patient","T10057C","tRNA Gly","nr","nr","Reported","38.40% ","0.008%
(0.000%)","5 (0)","2"10406,"MT-TR","Mitochondrial myopathy","G10406A","tRNA Arg","-","+","Reported","72.30% ","0.000%
(0.000%)","0 (0)","3"10408,"MT-TR","Unspecified patient from clinical lab","T10408C","tRNA Arg","nr","nr","Reported","64.30% ","0.000%
(0.000%)","0 (0)","1"10411,"MT-TR","Dilated Cardiomyopathy","A10411T","tRNA Arg","+","-","Reported","26.40% ","0.000%
(0.000%)","0 (0)","1"10415,"MT-TR","Dilated Cardiomyopathy","T10415C","tRNA Arg","+","-","Reported","76.50% ","0.000%
(0.000%)","0 (0)","1"10437,"MT-TR","Mitochondrial myopathy","G10437A","tRNA Arg","-","+","Reported","51.70% ","0.000%
(0.000%)","0 (0)","1"10438,"MT-TR","Progressive Encephalopathy","A10438G","tRNA Arg","-","+","Reported","46.20% ","0.000%
(0.000%)","0 (0)","1"10438,"MT-TR","Non-dystrophic myopathy","A10438T","tRNA Arg","-","+","Reported","46.20% ","0.000%
(0.000%)","0 (0)","1"10450,"MT-TR","Combined OXPHOS defects & severe multisystem disorder","A10450G","tRNA Arg","-","+","Reported","69.60% ","0.000%
(0.000%)","0 (0)","1"10454,"MT-TR","DEAF helper mut.","T10454C","tRNA Arg","+","-","Reported","4.80% ","0.350% 
(0.000%)","208 (0)","5"10460,"MT-TR","Unspecified patient from clinical lab","T10460C","tRNA Arg","nr","nr","Reported","72.00% ","0.000%
(0.000%)","0 (0)","1"12141,"MT-TR","Reported in tic disorder patient","A12141G","tRNA His","nr","nr","Reported","22.80% ","0.013%
(0.000%)","8 (0)","1"12146,"MT-TH","MELAS","A12146G","tRNA His","+","+","Reported","61.60% ","0.000%
(0.000%)","0 (0)","1"12147,"MT-TH","MERRF-MELAS / Encephalopathy","G12147A","tRNA His","-","+","Cfrm","Pathogenic ","0.000%
(0.000%)","0 (0)","6"12148,"MT-TH","Developmental delay, optic atrophy, cataract, hearing loss, myopathy","T12148C","tRNA His","-","+","Reported","74.70% ","0.002%
(0.000%)","1 (0)","2"12158,"MT-TH","MELAS","A12158G","tRNA His","-","+","Reported","77.60% ","0.000%
(0.000%)","0 (0)","2"12167,"MT-TH","Hearing loss patient","T12167C","tRNA His","nr","nr","Reported","24.60% ","0.002%
(0.000%)","1 (0)","2"12182,"MT-TH","Sclerosis-like symptoms + white matter alterations","A12182G","tRNA His","+","-","Reported as VUS","46.40% ","0.003%
(0.000%)","2 (0)","1"12183,"MT-TH","RP + DEAF","G12183A","tRNA His","-","+","Reported","70.30% ","0.002%
(0.000%)","1 (0)","3"12187,"MT-TH","Asthenozoospermia","C12187A","tRNA His","+","-","Reported","15.40% ","0.000%
(0.000%)","0 (0)","1"12188,"MT-TH","Hearing loss patient","T12188C","tRNA His","nr","nr","Reported","6.10% ","0.052%
(0.000%)","31 (0)","3"12192,"MT-TH","MICM / possible G15927A deafness modulator","G12192A","tRNA His","+","-","Reported","4.50% ","0.209% 
(0.000%)","124 (0)","5"12201,"MT-TH","Maternally inherited non-syndromic deafness","T12201C","tRNA His","-","+","Cfrm","Pathogenic ","0.002%
(0.000%)","1 (0)","8"12206,"MT-TH","MELAS-like encephalopathy+bilateral optic atrophy","C12206T","tRNA His","-","+","Reported","44.20% ","0.000%
(0.000%)","0 (0)","1"12207,"MT-TS2","Myopathy / Encephalopathy","G12207A","tRNA Ser (AGY)","-","+","Reported","76.40% ","0.000%
(0.000%)","0 (0)","3"12224,"MT-TS2","DEAF helper mutation","C12224T","tRNA Ser (AGY)","+","-","Reported","30.40% ","0.007%
(0.000%)","4 (0)","2"12235,"MT-TS2","Hearing loss patient","T12235C","tRNA Ser (AGY)","nr","nr","Reported","27.50% ","0.386%
(0.000%)","229 (0)","2"12236,"MT-TS2","DEAF","G12236A","tRNA Ser (AGY)","+","-","Reported","2.20% ","0.734% 
(0.000%)","436 (0)","5"12246,"MT-TS2","CIPO","C12246A","tRNA Ser (AGY)","nr","nr","Reported","3.20% ","0.005%
(0.000%)","3 (0)","2"12258,"MT-TS2","DMDF / RP+SNHL","C12258A","tRNA Ser (AGY)","-","+","Cfrm","Pathogenic ","0.002%
(0.000%)","1 (0)","9"12258,"MT-TS2","Unspecified patient from clinical lab","C12258T","tRNA Ser (AGY)","nr","nr","Reported","81.50% ","0.000%
(0.000%)","0 (0)","1"12261,"MT-TS2","Myopathy+epilepsy+retinal degeneration+DEAF","T12261C","tRNA Ser (AGY)","-","+","Reported","65.30% ","0.000%
(0.000%)","0 (0)","1"12262,"MT-TS2","Progressive MM+Deafness+Seizures","C12262A","tRNA Ser (AGY)","-","+","Reported","84.50% ","0.000%
(0.000%)","0 (0)","2"12264,"MT-TS2","Multisystem Disease with Cataracts / Myopathy+epilepsy+DEAF+atypical autism","C12264T","tRNA Ser (AGY)","+","+","Reported","79.30% ","0.000%
(0.000%)","0 (0)","3"12276,"MT-TL2","CPEO","G12276A","tRNA Leu (CUN)","-","+","Cfrm [LP]","Pathogenic ","0.002%
(0.000%)","1 (0)","4"12279,"MT-TL2","Reported in tic disorder patient","A12279G","tRNA Leu (CUN)","nr","nr","Reported","5.90% ","0.438% 
(0.000%)","260 (0)","1"12280,"MT-TL2","Hypertension","A12280G","tRNA Leu (CUN)","+","-","Reported","6.50% ","0.158%
(0.000%)","94 (0)","2"12283,"MT-TL2","CPEO","G12283A","tRNA Leu (CUN)","-","+","Reported","43.20% ","0.002%
(0.000%)","1 (0)","2"12293,"MT-TL2","Axial mitochondrial myopathy / EXIT+myalgia+ptosis","G12293A","tRNA Leu (CUN)","-","+","Reported","66.90% ","0.000%
(0.000%)","0 (0)","3"12294,"MT-TL2","CPEO / EXIT+Ophthalmoplegia","G12294A","tRNA Leu (CUN)","-","+","Cfrm [VUS*]","Pathogenic ","0.000%
(0.000%)","0 (0)","2"12297,"MT-TL2","Dilated Cardiomyopathy / Leigh Syndrome / Failure to Thrive & LA","T12297C","tRNA Leu (CUN)","+","+","Reported","47.30% ","0.084%
(0.000%)","50 (0)","6"12299,"MT-TL2","MELAS","A12299C","tRNA Leu (CUN)","-","+","Reported","53.00% ","0.000%
(0.000%)","0 (0)","1"12300,"MT-TL2","3243 suppressor mutant","G12300A","tRNA Leu (CUN)","-","+","Reported","51.70% ","0.000%
(0.000%)","0 (0)","7"12308,"MT-TL2","CPEO / Stroke / CM / Breast & Renal & Prostate Cancer Risk / Altered brain pH /sCJD","A12308G","tRNA Leu (CUN)","+","+","Reported [B]","42.00% ","12.560% 
(0.000%)","7459 (0)","20"12311,"MT-TL2","CPEO","T12311C","tRNA Leu (CUN)","+","+","Reported","34.40% ","0.108%
(0.000%)","64 (0)","4"12313,"MT-TL2","FSHD","T12313C","tRNA Leu (CUN)","-","+","Reported","73.20% ","0.000%
(0.000%)","0 (0)","1"12315,"MT-TL2","CPEO / KSS / possible carotid atherosclerosis risk, trend toward myocardial infarction risk","G12315A","tRNA Leu (CUN)","-","+","Cfrm [LP]","Pathogenic ","0.000%
(0.000%)","0 (0)","15"12316,"MT-TL2","CPEO","G12316A","tRNA Leu (CUN)","-","+","Cfrm","Pathogenic ","0.000%
(0.000%)","0 (0)","2"12317,"MT-TL2","CPEO+ptosis+myopathy+exercise intolerance+diabetes","T12317C","tRNA Leu (CUN)","-","+","Reported","41.30% ","0.002%
(0.000%)","1 (0)","1"12320,"MT-TL2","MM","A12320G","tRNA Leu (CUN)","-","+","Reported","37.30% ","0.000%
(0.000%)","0 (0)","7"12325,"MT-TL2","Hearing loss patient","C12325:","tRNA Leu (CUN)","nr","nr","Reported","91.50% ","0.000%
(0.000%)","0 (0)","1"12334,"MT-TL2","CPEO","G12334A","tRNA Leu (CUN)","-","+","Reported","63.40% ","0.000%
(0.000%)","0 (0)","1"12335,"MT-TL2","Unspecified patient from clinical lab","T12335C","tRNA Leu (CUN)","nr","nr","Reported","60.20% ","0.000%
(0.000%)","0 (0)","1"14674,"MT-TE","Reversible COX deficiency myopathy","T14674C","tRNA Glu","+","-","Cfrm","Pathogenic ","0.017%
(0.000%)","10 (0)","16"14674,"MT-TE","Reversible COX deficiency myopathy","T14674G","tRNA Glu","+","-","Reported","29.40% ","0.000%
(0.000%)","0 (0)","3"14680,"MT-TE","Mitochondrial encephalomyopathy","C14680A","tRNA Glu","-","+","Reported","35.50% ","0.000%
(0.000%)","0 (0)","1"14685,"MT-TE","Cataracts w spastic paraparesis & ataxia","G14685A","tRNA Glu","-","+","Reported","77.40% ","0.000%
(0.000%)","0 (0)","1"14687,"MT-TE","Mito myopathy w respiratory failure; intellectual disability","A14687G","tRNA Glu","+","-","Reported","7.00% ","0.581% 
(0.000%)","345 (0)","5"14692,"MT-TE","LHON helper / Maternally inherited diabetes & deafness /tic disorder","A14692G","tRNA Glu","+","-","Reported","2.40% ","0.034%
(0.000%)","20 (0)","5"14693,"MT-TE","MELAS / LHON / DEAF / hypertension helper","A14693G","tRNA Glu","+","+","Reported","39.50% ","0.571% 
(0.000%)","339 (0)","18"14696,"MT-TE","Progressive Encephalopathy","A14696G","tRNA Glu","-","+","Reported","22.00% ","0.136%
(0.000%)","81 (0)","2"14701,"MT-TE","Reversible infantile respiratory chain deficiency (RIRCD)","C14701T","tRNA Glu","+","-","Reported","20.60% ","0.000%
(0.000%)","0 (0)","1"14709,"MT-TE","MM+DMDF / Encephalomyopathy / Dementia+diabetes+ophthalmoplegia","T14709C","tRNA Glu","+","+","Cfrm","Pathogenic ","0.002%
(0.000%)","1 (0)","28"14710,"MT-TE","Encephalomyopathy + Retinopathy","G14710A","tRNA Glu","-","+","Cfrm [VUS*]","Pathogenic ","0.000%
(0.000%)","0 (0)","6"14721,"MT-TE","Isolated complex I deficiency","G14721A","tRNA Glu","-","+","Reported","82.90% ","0.000%
(0.000%)","0 (0)","1"14723,"MT-TE","CPEO + Myopathy","T14723C","tRNA Glu","-","+","Reported","73.50% ","0.000%
(0.000%)","0 (0)","2"14724,"MT-TE","Mito Leukoencephalopathy","G14724A","tRNA Glu","-","+","Reported","88.80% ","0.000%
(0.000%)","0 (0)","3"14728,"MT-TE","Late-onset mitochondrial encephalomyopathy","T14728C","tRNA Glu","-","+","Reported","48.50% ","0.000%
(0.000%)","0 (0)","1"14739,"MT-TE","EXIT","G14739A","tRNA Glu","-","+","Reported","62.10% ","0.002%
(0.000%)","1 (0)","4"15894,"MT-TT","Gout","G15894A","tRNA Thr","+","-","Reported","28.20% ","0.059%
(0.000%)","35 (0)","2"15897,"MT-TT","Maternally inherited diabetes (MID)","G15897A","tRNA Thr","+","-","Reported","81.90% ","0.000%
(0.000%)","0 (0)","2"15901,"MT-TT","Hearing loss patient","A15901G","tRNA Thr","nr","nr","Reported","15.90% ","0.017%
(0.000%)","10 (0)","1"15902,"MT-TT","Hearing loss patient","A15902G","tRNA Thr","nr","nr","Reported","7.40% ","0.017%
(0.000%)","10 (0)","1"15908,"MT-TT","DEAF helper mutation","T15908C","tRNA Thr","+","-","Reported","28.00% ","0.322% 
(0.000%)","191 (0)","4"15909,"MT-TT","Hypertension","A15909G","tRNA Thr","+","-","Reported","25.90% ","0.008%
(0.000%)","5 (0)","3"15910,"MT-TT","Tic disorder patient / hearing loss patient / coronary heart disease","C15910T","tRNA Thr","+","-","Reported","25.20% ","0.047%
(0.000%)","28 (0)","3"15915,"MT-TT","Encephalomyopathy","G15915A","tRNA Thr","-","+","Reported","73.70% ","0.002%
(0.000%)","1 (0)","4"15923,"MT-TT","LIMM / MERRF / mito disease","A15923G","tRNA Thr","+","+","Reported","46.60% ","0.000%
(0.000%)","0 (0)","5"15924,"MT-TT","LIMM","A15924G","tRNA Thr","nr","nr","Reported","22.70% ","3.506% 
(0.000%)","2082 (0)","7"15926,"MT-TT","Hearing loss patient","C15926T","tRNA Thr","nr","nr","Reported","0.60% ","0.017%
(0.000%)","10 (0)","2"15927,"MT-TT","LHON / Multiple Sclerosis / DEAF1555 increased penetrance / CHD","G15927A","tRNA Thr","+","-","Reported","16.20% ","0.978% 
(0.000%)","581 (0)","19"15928,"MT-TT","Multiple Sclerosis / idiopathic repeat miscarriage / AD protection","G15928A","tRNA Thr","+","+","Reported","20.20% ","5.078% 
(0.000%)","3016 (0)","8"15933,"MT-TT","Suspected mito disease","G15933A","tRNA Thr","+","-","Reported","66.80% ","0.000%
(0.000%)","0 (0)","1"15942,"MT-TT","Possibly LVNC-associated","T15942C","tRNA Thr","+","-","Reported","28.60% ","0.734%
(0.000%)","436 (0)","2"15944,"MT-TT","MM","T15944:","tRNA Thr","+","-","Conflicting reports","19.90% ","1.408%
(0.000%)","836 (0)","3"15948,"MT-TT","Reported in tic disorder patient","A15948G","tRNA Thr","nr","nr","Reported","29.90% ","0.008%
(0.000%)","5 (0)","1"15950,"MT-TT","LHON / LHON-MS / dopaminergic nerve cell death (PD) / tic disorder","G15950A","tRNA Thr","+","+","Reported","54.50% ","0.005%
(0.000%)","3 (0)","4"15951,"MT-TT","LHON / LHON modulator","A15951G","tRNA Thr","+","-","Conflicting reports","23.70% ","0.689% 
(0.000%)","409 (0)","10"15952,"MT-TT","Reported in tic disorder patient","C15952T","tRNA Thr","nr","nr","Reported","39.40% ","0.008%
(0.000%)","5 (0)","1"15958,"MT-TP","Severe myopathy / EXIT","A15958T","tRNA Pro","-","+","Reported","93.80% ","0.000%
(0.000%)","0 (0)","2"15965,"MT-TP","Dopaminergic nerve cell death (PD)","A15965G","tRNA Pro","+","-","Reported","2.10% ","0.020%
(0.000%)","12 (0)","2"15967,"MT-TP","MERRF-like disease","G15967A","tRNA Pro","-","+","Reported","78.90% ","0.000%
(0.000%)","0 (0)","3"15975,"MT-TP","Ataxia+RP+deafness","C15975T","tRNA Pro","-","+","Reported","78.30% ","0.000%
(0.000%)","0 (0)","1"15986,"MT-TP","LHON modulator","G15986GG","tRNA Pro","","","Reported","-","0.000%
(0.000%)","0 (0)","3"15990,"MT-TP","MM / PEO","C15990T","tRNA Pro","-","+","Cfrm","Pathogenic ","0.000%
(0.000%)","0 (0)","5"15992,"MT-TP","Tic disorder patient / hearing loss patient","A15992G","tRNA Pro","nr","nr","Reported","17.60% ","0.008%
(0.000%)","5 (0)","2"15992,"MT-TP","Exercise-induced muscle swelling and fatigue","A15992T","tRNA Pro","+","-","Reported","17.60% ","0.002%
(0.000%)","1 (0)","1"15995,"MT-TP","Mitochondrial cytopathy","G15995A","tRNA Pro","-","+","Reported","80.00% ","0.000%
(0.000%)","0 (0)","3"15997,"MT-TP","Hearing loss patient","T15997C","tRNA Pro","nr","nr","Reported","60.10% ","0.000%
(0.000%)","0 (0)","2"15998,"MT-TP","Mitochondrial myopathy","A15998T","tRNA Pro","-","+","Reported","57.50% ","0.000%
(0.000%)","0 (0)","1"16002,"MT-TP","Mitochondrial cytopathy","T16002C","tRNA Pro","-","+","Reported","75.80% ","0.000%
(0.000%)","0 (0)","2"16015,"MT-TP","Mitochondrial myopathy","T16015C","tRNA Pro","-","+","Reported","50.40% ","0.000%
(0.000%)","0 (0)","1"16018,"MT-TP","Dilated cardiomyopathy (15 bp dup), alternate notation","T16018TTCTCTGTTCTTTCAT","tRNA Pro","-","+","Reported","-","0.000%
(0.000%)","0 (0)","2"16021,"MT-TP","Mitochondrial myopathy","16021_16022delCT","tRNA Pro","-","+","Reported","-","0.000%
(0.000%)","0 (0)","1"16023,"MT-TP","Migraine +pigmentary retinopathy +deafness +leukariosis","G16023A","tRNA Pro","-","+","Reported","83.70% ","0.000%
(0.000%)","0 (0)","2"16032,"MT-CR","Dilated cardiomyopathy (15 bp dup), alternate notation","T16032TTCTCTGTTCTTTCAT","tRNA Pro / CR","-","+","Reported","-","0.003%
(0.000%)","2 (0)","1"


* FL: full length sequences, CR: control reqion sequences

High Frequency Haplogroups:

Variants found in haplogroups at 50% or higher are marked with . You may click a flagged link to see the high-scoring haplogroups. For detailed info about the high frequency haplogroup flag, please check the calculation criteria.

Notes:

LHON Leber Hereditary Optic Neuropathy MM Mitochondrial Myopathy
AD Alzeimer's Disease LIMM Lethal Infantile Mitochondrial Myopathy
ADPD Alzeimer's Disease and Parkinsons's Disease MMC Maternal Myopathy and Cardiomyopathy
NARP Neurogenic muscle weakness, Ataxia, and Retinitis Pigmentosa; alternate phenotype at this locus is reported as Leigh Disease FICP Fatal Infantile Cardiomyopathy Plus, a MELAS-associated cardiomyopathy
MELAS Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes LDYT Leber's hereditary optic neuropathy and DYsTonia
MERRF Myoclonic Epilepsy and Ragged Red Muscle Fibers MHCM Maternally inherited Hypertrophic CardioMyopathy
CPEO Chronic Progressive External Ophthalmoplegia KSS Kearns Sayre Syndrome
DM Diabetes Mellitus DMDF Diabetes Mellitus + DeaFness
CIPO Chronic Intestinal Pseudoobstruction with myopathy and Ophthalmoplegia DEAF Maternally inherited DEAFness or aminoglycoside-induced DEAFness
PEM Progressive encephalopathy SNHL SensoriNeural Hearing Loss

  • Homoplasmy = pure mutant mtDNAs.
  • Heteroplasmy = mixture of mutant and normal mtDNAs.
  • nd = not determined.
  • "Reported" status indicates that one or more publications have considered the mutation as possibly pathologic. This is not an assignment of pathogenicity by MITOMAP but is a report of literature. Previously, mutations with this status were termed "Prov" (provisional).
  • "Cfrm"(confirmed) status indicates that at least two or more independent laboratories have published reports on the pathogenicity of a specific mutation. These mutations are generally accepted by the mitochondrial research community as being pathogenic. A status of "Cfrm" is not an assignment of pathogenicity by MITOMAP but is a report of published literature. Researchers and clinicians are cautioned that additional data and/or analysis may still be necessary to confirm the pathological significance of some of these mutations.
  • "P.M." (point mutation/polymorphism) status indicates that some published reports have determined the mutation to be a non-pathogenic polymorphism.
Topic revision: r580 - 24 Jan 2023, ShipingZhang

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