| Genename | Variants |
|---|---|
| ATP6V0A2(NM_012463,ATPase, H+ transporting, lysosomal V0 subunit a2,856aa) | g.12:124241398T>A,c.2330T>A,p.V777E |
| ATP6V0A2(NM_012463,ATPase, H+ transporting, lysosomal V0 subunit a2,856aa) | g.12:124236846T>C,c.2072T>C,p.I691T |
| ATP6V0A2(NM_012463,ATPase, H+ transporting, lysosomal V0 subunit a2,856aa) | g.12:124233163C>T,c.1766C>T,p.P589L |
| ATP6V0A2(NM_012463,ATPase, H+ transporting, lysosomal V0 subunit a2,856aa) | g.12:124229303G>A,c.1486G>A,p.A496T |
| ATP6V0A2(NM_012463,ATPase, H+ transporting, lysosomal V0 subunit a2,856aa) | g.12:124228816G>T,c.1258G>T,p.V420L |
| ATP6V0A2(NM_012463,ATPase, H+ transporting, lysosomal V0 subunit a2,856aa) | g.12:124228414A>G,c.1121A>G,p.K374R |
| ATP6V0A2(NM_012463,ATPase, H+ transporting, lysosomal V0 subunit a2,856aa) | g.12:124221796G>A,c.1016G>A,p.R339H |
| ATP6V0A2(NM_012463,ATPase, H+ transporting, lysosomal V0 subunit a2,856aa) | g.12:124220137A>G,c.791A>G,p.E264G |
| ATP6V0A2(NM_012463,ATPase, H+ transporting, lysosomal V0 subunit a2,856aa) | g.12:124209328G>T,c.422G>T,p.R141L |
| ATP6V0A2(NM_012463,ATPase, H+ transporting, lysosomal V0 subunit a2,856aa) | g.12:124209294C>T,c.388C>T,p.H130Y |
| ATP6V0A2(NM_012463,ATPase, H+ transporting, lysosomal V0 subunit a2,856aa) | g.12:124206964C>T,c.263C>T,p.A88V |
| ATP6V0A1(NM_001130020,ATPase, H+ transporting, lysosomal V0 subunit a1,838aa) | g.17:40666378G>A,c.2323G>A,p.V775M |
| ATP6V0A1(NM_001130020,ATPase, H+ transporting, lysosomal V0 subunit a1,838aa) | g.17:40653240T>C,c.1943T>C,p.V648A |
| ATP6V0A1(NM_001130020,ATPase, H+ transporting, lysosomal V0 subunit a1,838aa) | g.17:40612929G>A,c.17G>A,p.R6Q |
| ATP6AP2(NM_005765,ATPase, H+ transporting, lysosomal accessory protein 2,350aa) | g.X:40464822G>C,c.868G>C,p.A290P |
| ATP6AP2(NM_005765,ATPase, H+ transporting, lysosomal accessory protein 2,350aa) | g.X:40456837G>A,c.455G>A,p.R152H |
| ATP6AP2(NM_005765,ATPase, H+ transporting, lysosomal accessory protein 2,350aa) | g.X:40450585C>G,c.268C>G,p.P90A |
| ATP6AP1(NM_001183,ATPase, H+ transporting, lysosomal accessory protein 1,470aa) | g.X:153663811C>T,c.1163C>T,p.T388M |
| ATP6AP1(NM_001183,ATPase, H+ transporting, lysosomal accessory protein 1,470aa) | g.X:153663810A>C,c.1162A>C,p.T388P |
| ATP6AP1(NM_001183,ATPase, H+ transporting, lysosomal accessory protein 1,470aa) | g.X:153660248G>C,c.361G>C,p.E121Q |
| ATP6AP1(NM_001183,ATPase, H+ transporting, lysosomal accessory protein 1,470aa) | g.X:153657458A>G,c.226A>G,p.T76A |
| ATP6AP1(NM_001183,ATPase, H+ transporting, lysosomal accessory protein 1,470aa) | g.X:153657081C>T,c.43C>T,p.R15X |
| ATP6AP1L(NM_001017971,ATPase, H+ transporting, lysosomal accessory protein 1-like,224aa) | g.5:81608563T>C,c.265T>C,p.Y89H |
| ATP6AP1L(NM_001017971,ATPase, H+ transporting, lysosomal accessory protein 1-like,224aa) | g.5:81608561C>T,c.263C>T,p.S88F |
| ATP6AP1L(NM_001017971,ATPase, H+ transporting, lysosomal accessory protein 1-like,224aa) | g.5:81608521G>T,c.223G>T,p.V75F |
| ATP6AP1L(NM_001017971,ATPase, H+ transporting, lysosomal accessory protein 1-like,224aa) | g.5:81601293T>C,c.73T>C,p.S25P |
| ATP6AP1L(NM_001017971,ATPase, H+ transporting, lysosomal accessory protein 1-like,224aa) | g.5:81601230T>C,c.10T>C,p.W4R |
| ATP5S(NM_001003803,ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B),215aa) | g.14:50790770G>T,c.469G>T,p.E157X |