| Genename | Variants |
|---|---|
| ATP6V0D2(NM_152565,ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2,350aa) | g.8:87162515G>A,c.814G>A,p.G272R |
| ATP6V0D2(NM_152565,ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2,350aa) | g.8:87162446C>T,c.745C>T,p.P249S |
| ATP6V0D2(NM_152565,ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2,350aa) | g.8:87162444A>G,c.743A>G,p.Y248C |
| ATP6V0D2(NM_152565,ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2,350aa) | g.8:87151852G>A,c.469G>A,p.E157K |
| ATP6V0D2(NM_152565,ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2,350aa) | g.8:87151712T>C,c.329T>C,p.I110T |
| ATP6V0D2(NM_152565,ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2,350aa) | g.8:87125953T>G,c.146T>G,p.L49R |
| ATP6V0D2(NM_152565,ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2,350aa) | g.8:87111241G>C,c.34G>C,p.D12H |
| ATP6V0D1(NM_004691,ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1,351aa) | g.16:67487502G>A,c.247C>T,p.R83C |
| ATP6V0D1(NM_004691,ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1,351aa) | g.16:67472921G>A,c.769C>T,p.R257W |
| ATP6V0A4(NM_020632,ATPase, H+ transporting, lysosomal V0 subunit a4,840aa) | g.7:138455988A>G,c.5T>C,p.V2A |
| ATP6V0A4(NM_020632,ATPase, H+ transporting, lysosomal V0 subunit a4,840aa) | g.7:138453553G>A,c.263C>T,p.P88L |
| ATP6V0A4(NM_020632,ATPase, H+ transporting, lysosomal V0 subunit a4,840aa) | g.7:138440495G>C,c.755C>G,p.P252R |
| ATP6V0A4(NM_020632,ATPase, H+ transporting, lysosomal V0 subunit a4,840aa) | g.7:138437518G>A,c.881C>T,p.S294F |
| ATP6V0A4(NM_020632,ATPase, H+ transporting, lysosomal V0 subunit a4,840aa) | g.7:138437453C>T,c.946G>A,p.V316I |
| ATP6V0A4(NM_020632,ATPase, H+ transporting, lysosomal V0 subunit a4,840aa) | g.7:138434059G>T,c.1033C>A,p.L345I |
| ATP6V0A4(NM_020632,ATPase, H+ transporting, lysosomal V0 subunit a4,840aa) | g.7:138424359T>C,c.1498A>G,p.S500G |
| ATP6V0A4(NM_020632,ATPase, H+ transporting, lysosomal V0 subunit a4,840aa) | g.7:138417791A>G,c.1739T>C,p.M580T |
| ATP6V0A4(NM_020632,ATPase, H+ transporting, lysosomal V0 subunit a4,840aa) | g.7:138417642C>T,c.1888G>A,p.A630T |
| ATP6V0A4(NM_020632,ATPase, H+ transporting, lysosomal V0 subunit a4,840aa) | g.7:138413517G>A,c.1999C>T,p.R667W |
| ATP6V0A4(NM_020632,ATPase, H+ transporting, lysosomal V0 subunit a4,840aa) | g.7:138406746C>A,c.2035G>T,p.D679Y |
| ATP6V0A4(NM_020632,ATPase, H+ transporting, lysosomal V0 subunit a4,840aa) | g.7:138406735C>G,c.2046G>C,p.E682D |
| ATP6V0A4(NM_020632,ATPase, H+ transporting, lysosomal V0 subunit a4,840aa) | g.7:138406701G>A,c.2080C>T,p.R694C |
| ATP6V0A4(NM_020632,ATPase, H+ transporting, lysosomal V0 subunit a4,840aa) | g.7:138400611C>T,c.2155G>A,p.V719I |
| ATP6V0A4(NM_020632,ATPase, H+ transporting, lysosomal V0 subunit a4,840aa) | g.7:138394505T>C,c.2293A>G,p.S765G |
| ATP6V0A4(NM_020632,ATPase, H+ transporting, lysosomal V0 subunit a4,840aa) | g.7:138394472C>T,c.2326G>A,p.V776I |
| ATP6V0A2(NM_012463,ATPase, H+ transporting, lysosomal V0 subunit a2,856aa) | g.12:124242557A>G,c.2549A>G,p.N850S |
| ATP6V0A2(NM_012463,ATPase, H+ transporting, lysosomal V0 subunit a2,856aa) | g.12:124241506C>T,c.2438C>T,p.A813V |
| ATP6V0A2(NM_012463,ATPase, H+ transporting, lysosomal V0 subunit a2,856aa) | g.12:124241427G>A,c.2359G>A,p.V787I |