| Genename | Variants |
|---|---|
| NEBL(NM_006393,nebulette,1014aa) | g.10:21098750G>A,c.2596C>T,p.L866F |
| NEBL(NM_006393,nebulette,1014aa) | g.10:21097556G>A,c.2644C>T,p.R882X |
| NDUFV3(NM_021075,NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa,473aa) | g.21:44324388T>A,c.1264+2T>A,p.422Donor |
| NDUFV3(NM_021075,NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa,473aa) | g.21:44324372G>A,c.1250G>A,p.R417Q |
| NDUFV3(NM_021075,NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa,473aa) | g.21:44324365G>A,c.1243G>A,p.D415N |
| NDUFV3(NM_021075,NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa,473aa) | g.21:44324329G>A,c.1207G>A,p.E403K |
| NDUFV3(NM_021075,NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa,473aa) | g.21:44324108C>T,c.986C>T,p.A329V |
| NDUFV3(NM_021075,NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa,473aa) | g.21:44323720C>T,c.598C>T,p.R200X |
| NDUFV3(NM_021075,NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa,473aa) | g.21:44323573C>A,c.451C>A,p.P151T |
| NDUFV3(NM_021075,NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa,473aa) | g.21:44323490A>C,c.368A>C,p.E123A |
| NDUFV3(NM_021075,NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa,473aa) | g.21:44317156A>C,c.168A>C,p.K56N |
| NDUFV3(NM_021075,NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa,473aa) | g.21:44317095C>T,c.107C>T,p.A36V |
| NDUFV3(NM_021075,NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa,473aa) | g.21:44317065G>A,c.77G>A,p.R26Q |
| NDUFV2(NM_021074,NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa,249aa) | g.18:9124917T>C,c.515T>C,p.I172T |
| NDUFV2(NM_021074,NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa,249aa) | g.18:9122638G>C,c.428G>C,p.R143P |
| NDUFV2(NM_021074,NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa,249aa) | g.18:9122611T>C,c.401T>C,p.V134A |
| NDUFV2(NM_021074,NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa,249aa) | g.18:9119355C>A,c.152C>A,p.T51N |
| NDUFV2(NM_021074,NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa,249aa) | g.18:9117867T>C,c.86T>C,p.V29A |
| NDUFV1(NM_007103,NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa,464aa) | g.11:67379865C>T,c.1331C>T,p.P444L |
| NDUFV1(NM_007103,NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa,464aa) | g.11:67379696C>T,c.1268C>T,p.T423M |
| NDUFV1(NM_007103,NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa,464aa) | g.11:67379615T>C,c.1187T>C,p.M396T |
| NDUFV1(NM_007103,NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa,464aa) | g.11:67379035C>T,c.1075C>T,p.R359C |
| NDUFV1(NM_007103,NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa,464aa) | g.11:67377924G>A,c.583G>A,p.V195M |
| NDUFV1(NM_007103,NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa,464aa) | g.11:67376023G>T,c.156G>T,p.R52S |
| NDUFS8(NM_002496,NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase),210aa) | g.11:67800745G>A,c.367G>A,p.A123T |
| NDUFS8(NM_002496,NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase),210aa) | g.11:67799622C>T,c.4C>T,p.R2C |
| NDUFS7(NM_024407,NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase),213aa) | g.19:1395487_1395488insCGC,c.642insCGC,p.214ins1aa |
| NDUFS7(NM_024407,NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase),213aa) | g.19:1388538C>T,c.68C>T,p.P23L |