Locus | Disease | Allele | RNA | Homo-plasmy | Hetero-Plasmy | Status | References | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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) | 2 |
583 | MT-TF | MELAS / MM & EXIT | G583A | tRNA Phe | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 4 |
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 |
593 | MT-TF | Nonsyndromic hearing loss | T593C | tRNA Phe | + | - | Reported | 0.80% | 0.505% ![]() (0.000%) |
262 (0) | 2 |
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% | 0.029% (0.000%) |
15 (0) | 4 |
608 | MT-TF | Tubulo-interstitial nephritis | A608G | tRNA Phe | + | - | Reported | 65.00% | 0.000% (0.000%) |
0 (0) | 2 |
611 | MT-TF | MERRF | G611A | tRNA Phe | nr | + | Reported | 51.20% | 0.000% (0.000%) |
0 (0) | 3 |
616 | MT-TF | Maternally inherited epilepsy / kidney disease | T616C | tRNA Phe | + | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 4 |
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) | 2 |
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) | 2 |
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% | 0.006% (0.000%) |
3 (0) | 2 |
636 | MT-TF | DEAF | A636G | tRNA Phe | + | - | Reported | 1.30% | 0.035% (0.000%) |
18 (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 |
652 | MT-RNR1 | Atherosclerosis risk | G652del | 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 | 2.661% ![]() (0.000%) |
1380 (0) | 1 |
669 | MT-RNR1 | DEAF | T669C | 12S rRNA | + | - | Reported | N/A | 0.177% (0.000%) |
92 (0) | 4 |
721 | MT-RNR1 | Possibly LVNC-associated | T721C | 12S rRNA | + | - | Reported | N/A | 0.241% (0.000%) |
125 (0) | 1 |
735 | MT-RNR1 | DEAF | A735G | 12S rRNA | nr | nr | Reported | N/A | 0.141% (0.000%) |
73 (0) | 1 |
745 | MT-RNR1 | DEAF-associated | A745G | 12S rRNA | + | - | Reported | N/A | 0.067% (0.000%) |
35 (0) | 1 |
750 | MT-RNR1 | SZ-associated | A750A | 12S rRNA | + | - | Reported | N/A | 1.724% (0.000%) |
894 (0) | 3 |
792 | MT-RNR1 | Increased risk of nonsyndromic deafness | C792T | 12S rRNA | + | - | Reported | N/A | 0.008% (0.000%) |
4 (0) | 1 |
801 | MT-RNR1 | DEAF-associated | A801G | 12S rRNA | + | - | Reported | N/A | 0.012% (0.000%) |
6 (0) | 1 |
827 | MT-RNR1 | DEAF | A827G | 12S rRNA | + | - | Conflicting reports | N/A | 2.495% ![]() (0.000%) |
1294 (0) | 16 |
839 | MT-RNR1 | DEAF-associated | A839G | 12S rRNA | + | - | Reported | N/A | 0.012% (0.000%) |
6 (0) | 1 |
850 | MT-RNR1 | Possibly LVNC-associated | T850C | 12S rRNA | + | - | Reported | N/A | 0.235% ![]() (0.000%) |
122 (0) | 1 |
856 | MT-RNR1 | LHON helper / AD / DEAF-associated | A856G | 12S rRNA | + | - | Reported | N/A | 0.033% (0.000%) |
17 (0) | 3 |
869 | MT-RNR1 | found in 1 HCM patient | C869T | 12S rRNA | + | - | Reported | N/A | 0.141% (0.000%) |
73 (0) | 1 |
921 | MT-RNR1 | Possibly LVNC-associated | T921C | 12S rRNA | + | - | Reported | N/A | 0.754% ![]() (0.000%) |
391 (0) | 2 |
960 | MT-RNR1 | Possibly DEAF-associated | C960del | 12S rRNA | + | - | Reported | N/A | 0.000% (0.000%) |
0 (0) | 1 |
960 | MT-RNR1 | Possibly DEAF-associated | C960CC | 12S rRNA | + | - | Reported | N/A | 0.555% ![]() (0.000%) |
288 (0) | 4 |
961 | MT-RNR1 | DEAF, possibly LVNC-associated | T961C | 12S rRNA | + | - | Unclear | N/A | 0.858% ![]() (0.000%) |
445 (0) | 7 |
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 | 0.372% ![]() (0.000%) |
193 (0) | 6 |
961 | MT-RNR1 | DEAF | T961TC | 12S rRNA | + | - | Unclear | N/A | 0.000% (0.000%) |
0 (0) | 13 |
988 | MT-RNR1 | Possible DEAF risk factor | G988A | 12S rRNA | nr | nr | Reported | N/A | 0.083% (0.000%) |
43 (0) | 1 |
990 | MT-RNR1 | DEAF | T990C | 12S rRNA | + | - | Reported | N/A | 0.064% (0.000%) |
33 (0) | 1 |
1005 | MT-RNR1 | DEAF | T1005C | 12S rRNA | + | - | Unclear | N/A | 0.455% ![]() (0.000%) |
236 (0) | 5 |
1027 | MT-RNR1 | DEAF-associated | A1027G | 12S rRNA | + | - | Reported | N/A | 0.029% (0.000%) |
15 (0) | 1 |
1095 | MT-RNR1 | SNHL | T1095C | 12S rRNA | + | + | Unclear | N/A | 0.118% (0.000%) |
61 (0) | 15 |
1116 | MT-RNR1 | DEAF | A1116G | 12S rRNA | + | - | Reported | N/A | 0.019% (0.000%) |
10 (0) | 2 |
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%) |
8 (0) | 2 |
1192 | MT-RNR1 | DEAF-associated | C1192T | 12S rRNA | + | - | Reported | N/A | 0.023% (0.000%) |
12 (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 | 0.104% (0.000%) |
54 (0) | 3 |
1310 | MT-RNR1 | DEAF-associated | C1310T | 12S rRNA | + | - | Reported | N/A | 0.071% (0.000%) |
37 (0) | 1 |
1331 | MT-RNR1 | DEAF-associated | A1331G | 12S rRNA | + | - | Reported | N/A | 0.019% (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 |
1391 | MT-RNR1 | found in 1 HCM patient | T1391C | 12S rRNA | + | + | Reported | N/A | 0.226% ![]() (0.000%) |
117 (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 | 5.148% (0.000%) |
2670 (0) | 3 |
1452 | MT-RNR1 | DEAF-associated | T1452C | 12S rRNA | + | - | Reported | N/A | 0.098% (0.000%) |
51 (0) | 1 |
1453 | MT-RNR1 | Possible DEAF risk factor | A1453G | 12S rRNA | nr | nr | Reported | N/A | 0.208% ![]() (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 | N/A | 0.008% (0.000%) |
4 (0) | 30 |
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%) |
6 (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 | N/A | 0.150% (0.000%) |
78 (0) | 141 |
1556 | MT-RNR1 | found in 1 HCM patient | C1556T | 12S rRNA | + | - | Reported | N/A | 0.008% (0.000%) |
4 (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 | Pathogenic | 0.000% (0.000%) |
0 (0) | 5 |
1607 | MT-TV | Suspected mito disease | T1607C | tRNA Val | + | + | Reported | 18.10% | 0.019% (0.000%) |
10 (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 | Pathogenic | 0.000% (0.000%) |
0 (0) | 5 |
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 | 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) | 1 |
2158 | MT-RNR2 | Reduced risk PD | T2158C | 16S rRNA | nr | nr | Reported | N/A | 0.388% (0.000%) |
201 (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 | 2.422% ![]() (0.000%) |
1256 (0) | 3 |
2361 | MT-RNR2 | Possibly LVNC-associated | G2361A | 16S rRNA | + | - | Reported | N/A | 0.266% ![]() (0.000%) |
138 (0) | 1 |
2639 | MT-RNR2 | Rare mutation in a single POAG patient | C2639A | 16S rRNA | + | - | Reported | N/A | 0.002% (0.000%) |
1 (0) | 1 |
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 | 21.062% (0.000%) |
10924 (0) | 1 |
2755 | MT-RNR2 | Possibly LVNC-associated | A2755G | 16S rRNA | + | - | Reported | N/A | 0.482% ![]() (0.000%) |
250 (0) | 2 |
2835 | MT-RNR2 | Rett Syndrome | C2835T | 16S rRNA | - | + | Reported | N/A | 0.114% (0.000%) |
59 (0) | 2 |
3010 | MT-RNR2 | Cyclic Vomiting Syndrome with Migraine / high altitude disease risk factor | G3010A | 16S rRNA | + | - | Reported | N/A | 14.314% ![]() (0.000%) |
7424 (0) | 7 |
3090 | MT-RNR2 | Myopathy | G3090A | 16S rRNA | - | + | Reported | N/A | 0.004% (0.000%) |
2 (0) | 1 |
3093 | MT-RNR2 | MELAS | C3093G | 16S rRNA | - | + | Reported | N/A | 0.000% (0.000%) |
0 (0) | 2 |
3111 | MT-RNR2 | Migraine | A3111T | 16S rRNA | + | - | Reported | N/A | 0.012% (0.000%) |
6 (0) | 1 |
3196 | MT-RNR2 | ADPD | G3196A | 16S rRNA | + | + | Reported | N/A | 0.025% (0.000%) |
13 (0) | 3 |
3236 | MT-TL1 | Sporadic bilateral optic neuropathy | A3236G | tRNA Leu (UUR) | nr | nr | Reported | 37.80% | 0.004% (0.000%) |
2 (0) | 3 |
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 | Pathogenic | 0.019% (0.000%) |
10 (0) | 408 |
3243 | MT-TL1 | MM / MELAS / SNHL / CPEO | A3243T | tRNA Leu (UUR) | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 8 |
3244 | MT-TL1 | MELAS | G3244A | tRNA Leu (UUR) | - | + | Reported | 41.60% | 0.012% (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 | T3250C | tRNA Leu (UUR) | - | + | Reported | 33.40% | 0.002% (0.000%) |
1 (0) | 12 |
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% | 0.010% (0.000%) |
5 (0) | 3 |
3254 | MT-TL1 | Gestational Diabetes (GDM) | C3254A | tRNA Leu (UUR) | - | + | Reported | 60.80% | 0.054% (0.000%) |
28 (0) | 1 |
3254 | MT-TL1 | MM | C3254G | tRNA Leu (UUR) | - | + | Reported | 60.80% | 0.000% (0.000%) |
0 (0) | 3 |
3254 | MT-TL1 | CPEO / poss. hypertension factor | C3254T | tRNA Leu (UUR) | + | - | Reported | 25.30% | 0.033% (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 | Pathogenic | 0.000% (0.000%) |
0 (0) | 20 |
3258 | MT-TL1 | MELAS / Myopathy | T3258C | tRNA Leu (UUR) | - | + | Cfrm | 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) | 12 |
3264 | MT-TL1 | DM | T3264C | tRNA Leu (UUR) | - | + | Reported | 47.30% | 0.000% (0.000%) |
0 (0) | 3 |
3271 | MT-TL1 | PEM / retinal dystrophy in MELAS | T3271del | tRNA Leu (UUR) | - | + | Cfrm | Pathogenic | 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 | Ocular myopathy | T3273C | tRNA Leu (UUR) | - | + | Reported | 71.20% | 0.000% (0.000%) |
0 (0) | 3 |
3274 | MT-TL1 | Neuropsychiatric syndrome + cataract | A3274G | tRNA Leu (UUR) | - | + | Reported | 77.10% | 0.000% (0.000%) |
0 (0) | 3 |
3275 | MT-TL1 | LHON | C3275A | tRNA Leu (UUR) | + | - | Reported | 2.20% | 0.004% (0.000%) |
2 (0) | 4 |
3275 | MT-TL1 | Metabolic syndrome and polycystic ovary syndrome | C3275T | tRNA Leu (UUR) | + | - | Reported | 2.20% | 0.004% (0.000%) |
2 (0) | 3 |
3277 | MT-TL1 | Poss. hypertension factor | G3277A | tRNA Leu (UUR) | + | - | Reported | 2.90% | 0.067% (0.000%) |
35 (0) | 2 |
3278 | MT-TL1 | Poss. hypertension factor | T3278C | tRNA Leu (UUR) | + | - | Reported | 13.10% | 0.027% (0.000%) |
14 (0) | 3 |
3280 | MT-TL1 | Myopathy | A3280G | tRNA Leu (UUR) | - | + | Cfrm | 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% | 0.235% ![]() (0.000%) |
122 (0) | 4 |
3291 | MT-TL1 | MELAS / Myopathy / Deafness+Cognitive Impairment | T3291C | tRNA Leu (UUR) | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 17 |
3302 | MT-TL1 | MM | A3302G | tRNA Leu (UUR) | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 12 |
3303 | MT-TL1 | MMC | C3303T | tRNA Leu (UUR) | + | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 15 |
4263 | MT-TI | Maternally inherited essential hypertension | A4263G | tRNA Ile | + | - | Reported | 67.80% | 0.008% (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) | 5 |
4277 | MT-TI | HCM / Poss. hypertension factor | T4277C | tRNA Ile | + | - | Reported | 8.90% | 0.033% (0.000%) |
17 (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% | 0.004% (0.000%) |
2 (0) | 7 |
4285 | MT-TI | CPEO | T4285C | tRNA Ile | - | + | Reported | 84.80% | 0.000% (0.000%) |
0 (0) | 5 |
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 | T4291C | tRNA Ile | + | - | Reported | 31.80% | 0.000% (0.000%) |
0 (0) | 1 |
4295 | MT-TI | MHCM / Maternally inherited hypertension / Maternally inherited deafness | A4295G | tRNA Ile | + | + | Reported | 44.00% | 0.181% (0.000%) |
94 (0) | 12 |
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 | Pathogenic | 0.000% (0.000%) |
0 (0) | 10 |
4300 | MT-TI | MICM | A4300G | tRNA Ile | + | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 10 |
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 | 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% | 0.087% (0.000%) |
45 (0) | 2 |
4316 | MT-TI | HCM with hearing loss / poss. hypertension factor | A4316G | tRNA Ile | + | + | Reported | 37.10% | 0.056% (0.000%) |
29 (0) | 3 |
4317 | MT-TI | Ptosis, deafness, stroke-like episodes | A4317del | tRNA Ile | nr | nr | Reported | 2.10% | 0.000% (0.000%) |
0 (0) | 3 |
4317 | MT-TI | FICP / poss. Hypertension / DEAF factor | A4317G | tRNA Ile | + | - | Reported | 2.10% | 0.067% (0.000%) |
35 (0) | 12 |
4320 | MT-TI | Mitochondrial Encephalocardiomyopathy | C4320T | tRNA Ile | - | + | Reported | 25.60% | 0.002% (0.000%) |
1 (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 | - | 0.006% (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% | 0.839% ![]() (0.000%) |
435 (0) | 28 |
4343 | MT-TQ | Poss. hypertension factor | A4343G | tRNA Gln | + | - | Reported | 5.10% | 0.100% (0.000%) |
52 (0) | 2 |
4345 | MT-TQ | Poss. hypertension factor | C4345T | tRNA Gln | + | - | Reported | 13.20% | 0.010% (0.000%) |
5 (0) | 1 |
4353 | MT-TQ | Poss. hypertension factor | T4353C | tRNA Gln | + | - | Reported | 31.60% | 0.013% (0.000%) |
7 (0) | 2 |
4363 | MT-TQ | Metabolic syndrome and polycystic ovary syndrome / possibly associated w DEAF + RP + dev delay / hypertension | T4363C | tRNA Gln | + | - | Reported | 9.50% | 0.083% (0.000%) |
43 (0) | 6 |
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 | Possibly LVNC-associated | T4373C | tRNA Gln | + | - | Reported | 29.10% | 0.015% (0.000%) |
8 (0) | 2 |
4381 | MT-TQ | LHON | A4381G | tRNA Gln | + | - | Reported | 15.30% | 0.008% (0.000%) |
4 (0) | 3 |
4386 | MT-TQ | Heart disease / myopathy / hypertension | T4386C | tRNA Gln | + | - | Conflicting reports | 6.90% | 0.334% ![]() (0.000%) |
173 (0) | 4 |
4387 | MT-TQ | Poss. hypertension factor | C4387A | tRNA Gln | + | - | Reported | 12.80% | 0.000% (0.000%) |
0 (0) | 1 |
4388 | MT-TQ | Poss. hypertension factor; intellectual disability | A4388G | tRNA Gln | + | - | Reported | 0.10% | 0.123% (0.000%) |
64 (0) | 3 |
4392 | MT-TQ | Poss. hypertension factor | C4392T | tRNA Gln | + | - | Reported | 15.70% | 0.035% (0.000%) |
18 (0) | 1 |
4395 | MT-TQ | Poss. hypertension factor | A4395G | tRNA Gln | + | - | Reported | 0.20% | 0.048% (0.000%) |
25 (0) | 3 |
4401 | MT-NC2 | Hypertension+Ventricular Hypertrophy | A4401G | NC2 Gln-Met spacer | + | - | Reported | N/A | 0.002% (0.000%) |
1 (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) | 5 |
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 modulator / hypertension; autism spectrum; intellectual disability | A4435G | tRNA Met | + | - | Reported | 13.80% | 0.104% (0.000%) |
54 (0) | 10 |
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) | 4 |
4450 | MT-TM | Myopathy / MELAS / Leigh Syndrome | G4450A | tRNA Met | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 4 |
4454 | MT-TM | Possible contributor to mito dysfunction / hypertension | T4454C | tRNA Met | + | - | Reported | 0.80% | 0.403% (0.000%) |
209 (0) | 4 |
4456 | MT-TM | Poss. hypertension factor | C4456T | tRNA Met | - | + | Reported | 32.00% | 0.021% (0.000%) |
11 (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% | 0.010% (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% | 0.083% (0.000%) |
43 (0) | 2 |
5521 | MT-TW | Mitochondrial myopathy | G5521A | tRNA Trp | - | + | Cfrm | 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) | 1 |
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 | 76.70% | 0.000% (0.000%) |
0 (0) | 2 |
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) | 1 |
5543 | MT-TW | Mitochondrial myopathy | T5543C | tRNA Trp | - | + | Reported | 47.30% | 0.000% (0.000%) |
0 (0) | 6 |
5545 | MT-TW | HCM severe multisystem disorder | C5545T | tRNA Trp | - | + | Reported | 53.00% | 0.000% (0.000%) |
0 (0) | 1 |
5549 | MT-TW | DEMCHO | G5549A | tRNA Trp | - | + | Reported | 83.30% | 0.000% (0.000%) |
0 (0) | 1 |
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 |
5559 | MT-TW | Leigh Syndrome | A5559G | tRNA Trp | - | + | Reported | 70.10% | 0.000% (0.000%) |
0 (0) | 2 |
5567 | MT-TW | Myopathy | T5567C | tRNA Trp | - | + | Reported | 32.70% | 0.104% (0.000%) |
54 (0) | 3 |
5568 | MT-TW | DEAF | A5568G | tRNA Trp | + | - | Reported | 9.70% | 0.019% (0.000%) |
10 (0) | 2 |
5587 | MT-TA | LHON / possible DEAF modifier / dilated cardiomyopathy / hypertension | T5587C | tRNA Ala | + | + | Reported | 12.10% | 0.066% (0.000%) |
34 (0) | 4 |
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% | 0.054% (0.000%) |
28 (0) | 2 |
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 |
5628 | MT-TA | CPEO / DEAF enhancer / gout | T5628C | tRNA Ala | - | + | Reported | 78.90% | 0.175% (0.000%) |
91 (0) | 6 |
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 |
5650 | MT-TA | Myopathy | G5650A | tRNA Ala | - | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 9 |
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% | 0.600% ![]() (0.000%) |
311 (0) | 4 |
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 |
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 | Pathogenic | 0.000% (0.000%) |
0 (0) | 2 |
5692 | MT-TN | CPEO / MM | T5692C | tRNA Asn | - | + | Reported | 46.60% | 0.000% (0.000%) |
0 (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 |
5703 | MT-TN | CPEO / MM | G5703A | tRNA Asn | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 10 |
5709 | MT-TN | Ophthalmoparesis+respiratory impairment | T5709C | tRNA Asn | - | + | Reported | 49.80% | 0.000% (0.000%) |
0 (0) | 1 |
5728 | MT-TN | Multiorgan failure / myopathy | T5728C | tRNA Asn | - | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 5 |
5780 | MT-TC | SNHL | G5780A | tRNA Cys | - | + | Reported | 35.50% | 0.029% (0.000%) |
15 (0) | 2 |
5783 | MT-TC | Myopathy / deafness / gout | G5783A | tRNA Cys | - | + | Reported | 66.90% | 0.075% (0.000%) |
39 (0) | 3 |
5802 | MT-TC | DEAF1555 increased penetrance / obesity risk | T5802C | tRNA Cys | + | - | Reported | 58.90% | 0.002% (0.000%) |
1 (0) | 6 |
5814 | MT-TC | Encephalopathy / gout | T5814C | tRNA Cys | - | + | L2b marker | 38.80% | 0.303% ![]() (0.000%) |
157 (0) | 11 |
5816 | MT-TC | Progressive Dystonia | A5816G | tRNA Cys | + | - | Reported | 59.90% | 0.000% (0.000%) |
0 (0) | 3 |
5821 | MT-TC | DEAF helper mut. | G5821A | tRNA Cys | + | - | Reported | 20.90% | 0.646% ![]() (0.000%) |
335 (0) | 5 |
5843 | MT-TY | FSGS / Mitochondrial Cytopathy | A5843G | tRNA Tyr | + | - | Reported | 8.40% | 0.858% ![]() (0.000%) |
445 (0) | 2 |
5874 | MT-TY | EXIT | T5874G | tRNA Tyr | - | + | Reported | 38.90% | 0.000% (0.000%) |
0 (0) | 1 |
5889 | MT-TY | Unspecified patient from clinical lab | A5889G | tRNA Tyr | nr | nr | Reported | 66.10% | 0.000% (0.000%) |
0 (0) | 1 |
7445 | MT-TS1 precursor | DEAF | A7445C | tRNA Ser (UCN) precursor | + | - | Reported | - | 0.025% (0.000%) |
13 (0) | 5 |
7445 | MT-TS1 precursor | SNHL | A7445G | tRNA Ser (UCN) precursor | + | + | Cfrm | - | 0.002% (0.000%) |
1 (0) | 34 |
7445 | MT-TS1 precursor | SNHL | A7445T | tRNA Ser (UCN) precursor | + | - | Reported | - | 0.006% (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% | 0.029% (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% | 0.012% (0.000%) |
6 (0) | 1 |
7471 | MT-TS1 | PEM / AMDF / Motor neuron disease-like | C7471CC | tRNA Ser (UCN) | + | + | Cfrm | - | 0.013% (0.000%) |
7 (0) | 29 |
7472 | MT-TS1 | MM / DMDF modulator | A7472C | tRNA Ser (UCN) | + | - | Reported | 3.20% | 0.017% (0.000%) |
9 (0) | 3 |
7472 | MT-TS1 | PEM / AMDF / Motor neuron disease-like | A7472CA | tRNA Ser (UCN) | + | + | See 7471insC | - | 0.000% (0.000%) |
0 (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 | C7492T | tRNA Ser (UCN) | + | - | Reported | 0.10% | 0.015% (0.000%) |
8 (0) | 1 |
7497 | MT-TS1 | MM / EXIT | G7497A | tRNA Ser (UCN) | + | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 9 |
7501 | MT-TS1 | Cardiovascular disease; renal disease patient | T7501A | tRNA Ser (UCN) | nr | nr | Reported | 1.90% | 0.002% (0.000%) |
1 (0) | 3 |
7505 | MT-TS1 | Maternally inherited hearing loss | T7505C | tRNA Ser (UCN) | + | - | Reported | 58.60% | 0.000% (0.000%) |
0 (0) | 2 |
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 | Pathogenic | 0.004% (0.000%) |
2 (0) | 22 |
7512 | MT-TS1 | PEM / MERME | T7512C | tRNA Ser (UCN) | + | + | Reported | 64.20% | 0.000% (0.000%) |
0 (0) | 11 |
7519 | MT-TD | Deafness-associated | A7519del | tRNA Asp | nr | nr | Reported | 36.90% | 0.002% (0.000%) |
1 (0) | 1 |
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% | 0.098% (0.000%) |
51 (0) | 3 |
7551 | MT-TD | DEAF increased penetrance (1555G helper) | A7551G | tRNA Asp | + | - | Reported | 28.90% | 0.004% (0.000%) |
2 (0) | 2 |
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 | A8296G | tRNA Lys | + | + | Reported | 72.30% | 0.071% (0.000%) |
37 (0) | 19 |
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) | 3 |
8306 | MT-TK | Severe adult-onset multisymptom myopathy / Myoclonic epilepsy | T8306C | tRNA Lys | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 3 |
8311 | MT-TK | Poss. hypertension factor | T8311C | tRNA Lys | + | - | Reported | 6.80% | 0.110% (0.000%) |
57 (0) | 2 |
8313 | MT-TK | MNGIE / Progressive mito cytopathy | G8313A | tRNA Lys | - | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 6 |
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% | 0.332% ![]() (0.000%) |
172 (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 | A8343G | tRNA Lys | + | - | Reported | 4.70% | 0.108% (0.000%) |
56 (0) | 4 |
8344 | MT-TK | MERRF; Other - LD / Depressive mood disorder / leukoencephalopathy / HiCM | A8344G | tRNA Lys | - | + | Cfrm | Pathogenic | 0.008% (0.000%) |
4 (0) | 129 |
8346 | MT-TK | Rett Syndrome | C8346del | tRNA Lys | nr | nr | Reported | 3.00% | 0.013% (0.000%) |
7 (0) | 1 |
8347 | MT-TK | Poss. hypertension factor | A8347G | tRNA Lys | + | - | Reported | 2.60% | 0.035% (0.000%) |
18 (0) | 3 |
8348 | MT-TK | Cardiomyopathy / SNHL / poss. hypertension factor | A8348G | tRNA Lys | + | + | Reported | 33.80% | 0.212% (0.000%) |
110 (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+Lipomas | G8363A | tRNA Lys | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 22 |
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 |
10003 | MT-TG | Hypertension | T10003C | tRNA Gly | nr | nr | Reported | 0.40% | 0.015% (0.000%) |
8 (0) | 2 |
10006 | MT-TG | CIPO / Encephalopathy | A10006G | tRNA Gly | + | - | Unclear | 19.30% | 0.021% (0.000%) |
11 (0) | 5 |
10010 | MT-TG | PEM | T10010C | tRNA Gly | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 9 |
10014 | MT-TG | Myopathy | G10014A | tRNA Gly | + | - | Unclear | 60.90% | 0.002% (0.000%) |
1 (0) | 2 |
10044 | MT-TG | SIDS | A10044G | tRNA Gly | - | + | Unclear | 34.70% | 0.266% (0.000%) |
138 (0) | 9 |
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 |
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% | 0.345% ![]() (0.000%) |
179 (0) | 4 |
10460 | MT-TR | Unspecified patient from clinical lab | T10460C | tRNA Arg | nr | nr | Reported | 72.00% | 0.000% (0.000%) |
0 (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) | 7 |
12148 | MT-TH | Developmental delay, optic atrophy, cataract, hearing loss, myopathy | T12148C | tRNA His | - | + | Reported | 74.70% | 0.002% (0.000%) |
1 (0) | 2 |
12182 | MT-TH | Sclerosis-like symptoms + white matter alterations | A12182G | tRNA His | + | - | Reported as VUS | 46.40% | 0.004% (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 |
12192 | MT-TH | MICM / possible G15927A deafness modulator | G12192A | tRNA His | + | - | Reported | 4.50% | 0.212% ![]() (0.000%) |
110 (0) | 4 |
12201 | MT-TH | Maternally inherited non-syndromic deafness | T12201C | tRNA His | - | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 7 |
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 mut. | C12224T | tRNA Ser (AGY) | + | - | Reported | 30.40% | 0.008% (0.000%) |
4 (0) | 1 |
12236 | MT-TS2 | DEAF | G12236A | tRNA Ser (AGY) | + | - | Reported | 2.20% | 0.704% ![]() (0.000%) |
365 (0) | 5 |
12246 | MT-TS2 | CIPO | C12246A | tRNA Ser (AGY) | nr | nr | Reported | 3.20% | 0.006% (0.000%) |
3 (0) | 2 |
12258 | MT-TS2 | DMDF / RP+SNHL | C12258A | tRNA Ser (AGY) | - | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 7 |
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) | 1 |
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 | Pathogenic | 0.002% (0.000%) |
1 (0) | 4 |
12280 | MT-TL2 | Hypertension | A12280G | tRNA Leu (CUN) | + | - | Reported | 6.50% | 0.141% (0.000%) |
73 (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 | 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% | 0.081% (0.000%) |
42 (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) | 5 |
12308 | MT-TL2 | CPEO / Stroke / CM / Breast & Renal & Prostate Cancer Risk / Altered brain pH /sCJD | A12308G | tRNA Leu (CUN) | + | + | Reported | 42.00% | 12.436% ![]() (0.000%) |
6450 (0) | 20 |
12311 | MT-TL2 | CPEO | T12311C | tRNA Leu (CUN) | + | + | Reported | 34.40% | 0.116% (0.000%) |
60 (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 | 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 |
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 | 0.019% (0.000%) |
10 (0) | 9 |
14674 | MT-TE | Reversible COX deficiency myopathy | T14674G | tRNA Glu | + | - | Reported | 29.40% | 0.000% (0.000%) |
0 (0) | 1 |
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% | 0.584% ![]() (0.000%) |
303 (0) | 4 |
14692 | MT-TE | LHON helper / Maternally inherited diabetes & deafness | A14692G | tRNA Glu | + | - | Reported | 2.40% | 0.035% (0.000%) |
18 (0) | 3 |
14693 | MT-TE | MELAS / LHON / DEAF / hypertension helper | A14693G | tRNA Glu | + | + | Reported | 39.50% | 0.603% ![]() (0.000%) |
313 (0) | 13 |
14696 | MT-TE | Progressive Encephalopathy | A14696G | tRNA Glu | - | + | Reported | 22.00% | 0.141% (0.000%) |
73 (0) | 2 |
14709 | MT-TE | MM+DMDF / Encephalomyopathy / Dementia+diabetes+ophthalmoplegia | T14709C | tRNA Glu | + | + | Cfrm | Pathogenic | 0.002% (0.000%) |
1 (0) | 24 |
14710 | MT-TE | Encephalomyopathy + Retinopathy | G14710A | tRNA Glu | - | + | Cfrm | 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) | 3 |
15894 | MT-TT | Gout | G15894A | tRNA Thr | + | - | Reported | 28.20% | 0.064% (0.000%) |
33 (0) | 2 |
15908 | MT-TT | DEAF helper mut. | T15908C | tRNA Thr | + | - | Reported | 28.00% | 0.351% ![]() (0.000%) |
182 (0) | 3 |
15909 | MT-TT | Hypertension | A15909G | tRNA Thr | + | - | Reported | 25.90% | 0.012% (0.000%) |
6 (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% | 3.492% ![]() (0.000%) |
1811 (0) | 7 |
15927 | MT-TT | LHON / Multiple Sclerosis / DEAF1555 increased penetrance / CHD | G15927A | tRNA Thr | + | - | Reported | 16.20% | 0.825% ![]() (0.000%) |
428 (0) | 14 |
15928 | MT-TT | Multiple Sclerosis / idiopathic repeat miscarriage / AD protection | G15928A | tRNA Thr | + | - | Reported | 20.20% | 4.841% ![]() (0.000%) |
2511 (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% | 0.781% (0.000%) |
405 (0) | 2 |
15944 | MT-TT | MM | T15944del | tRNA Thr | + | - | Conflicting reports | 19.90% | 1.440% ![]() (0.000%) |
747 (0) | 3 |
15950 | MT-TT | Dopaminergic nerve cell death (PD) | G15950A | tRNA Thr | + | - | Reported | 54.50% | 0.002% (0.000%) |
1 (0) | 2 |
15951 | MT-TT | LHON / LHON modulator | A15951G | tRNA Thr | + | - | Conflicting reports | 23.70% | 0.723% ![]() (0.000%) |
375 (0) | 7 |
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% | 0.017% (0.000%) |
9 (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 |
15990 | MT-TP | MM / PEO | C15990T | tRNA Pro | - | + | Cfrm | Pathogenic | 0.000% (0.000%) |
0 (0) | 5 |
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 |
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) | 1 |
16032 | MT-CR | Dilated cardiomyopathy (15 bp dup), alternate notation | T16032TTCTCTGTTCTTTCAT | tRNA Pro / CR | - | + | Reported | - | 0.002% (0.000%) |
1 (0) | 1 |
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.
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 |