| Genename | Variants |
|---|---|
| ATP6V1E2(NM_080653,ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2,226aa) | g.2:46739684T>C,c.167A>G,p.Y56C |
| ATP6V1E1(NM_001696,ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1,226aa) | g.22:18095609T>C,c.245A>G,p.K82R |
| ATP6V1D(NM_015994,ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D,247aa) | g.14:67807215G>A,c.544C>T,p.R182C |
| ATP6V1C2(NM_001039362,ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2,427aa) | g.2:10917808G>A,c.923G>A,p.G308E |
| ATP6V1C2(NM_001039362,ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2,427aa) | g.2:10917778C>T,c.893C>T,p.P298L |
| ATP6V1C2(NM_001039362,ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2,427aa) | g.2:10908893A>G,c.427A>G,p.N143D |
| ATP6V1C2(NM_001039362,ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2,427aa) | g.2:10908861A>G,c.395A>G,p.E132G |
| ATP6V1C2(NM_001039362,ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2,427aa) | g.2:10904495A>G,c.322A>G,p.M108V |
| ATP6V1C2(NM_001039362,ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2,427aa) | g.2:10862980C>T,c.5C>T,p.S2L |
| ATP6V1C1(NM_001695,ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1,382aa) | g.8:104065010A>T,c.433A>T,p.N145Y |
| ATP6V1B2(NM_001693,ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2,511aa) | g.8:20062019A>G,c.161A>G,p.N54S |
| ATP6V1B2(NM_001693,ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2,511aa) | g.8:20054924C>A,c.7C>A,p.L3M |
| ATP6V1B1(NM_001692,ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1,513aa) | g.2:71192103G>A,c.1394G>A,p.R465H |
| ATP6V1B1(NM_001692,ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1,513aa) | g.2:71190308A>G,c.926A>G,p.E309G |
| ATP6V1B1(NM_001692,ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1,513aa) | g.2:71189936C>T,c.815C>T,p.A272V |
| ATP6V1B1(NM_001692,ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1,513aa) | g.2:71187104G>A,c.481G>A,p.E161K |
| ATP6V1B1(NM_001692,ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1,513aa) | g.2:71186202C>T,c.422C>T,p.A141V |
| ATP6V1B1(NM_001692,ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1,513aa) | g.2:71163175C>T,c.91C>T,p.R31X |
| ATP6V1B1(NM_001692,ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1,513aa) | g.2:71163173C>T,c.89C>T,p.T30I |
| ATP6V1B1(NM_001692,ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1,513aa) | g.2:71163124G>A,c.40G>A,p.G14S |
| ATP6V1B1(NM_001692,ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1,513aa) | g.2:71163086T>C,c.2T>C,p.M1T |
| ATP6V1A(NM_001690,ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A,617aa) | g.3:113517243A>G,c.1444A>G,p.I482V |
| ATP6V1A(NM_001690,ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A,617aa) | g.3:113503269C>T,c.410C>T,p.P137L |
| ATP6V0E2(NM_145230,ATPase, H+ transporting V0 subunit e2,130aa) | g.7:149571095G>A,c.88G>A,p.A30T |
| ATP6V0E2(NM_145230,ATPase, H+ transporting V0 subunit e2,130aa) | g.7:149571044G>A,c.37G>A,p.G13S |
| ATP6V0E1(NM_003945,ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1,81aa) | g.5:172410957C>T,c.94C>T,p.P32S |
| ATP6V0D2(NM_152565,ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2,350aa) | g.8:87165142G>A,c.989G>A,p.W330X |
| ATP6V0D2(NM_152565,ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2,350aa) | g.8:87163770G>T,c.891+1G>T,p.297Donor |