| Genename | Variants |
|---|---|
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52511626C>T,c.3889G>A,p.V1297I |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52509155G>A,c.4135C>T,p.P1379S |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52508995G>A,c.4295C>T,p.S1432F |
| ATP7A(NM_000052,ATPase, Cu++ transporting, alpha polypeptide,1500aa) | g.X:77301954A>G,c.4390A>G,p.I1464V |
| ATP7A(NM_000052,ATPase, Cu++ transporting, alpha polypeptide,1500aa) | g.X:77298875C>T,c.4066C>T,p.R1356W |
| ATP7A(NM_000052,ATPase, Cu++ transporting, alpha polypeptide,1500aa) | g.X:77298857G>A,c.4048G>A,p.E1350K |
| ATP7A(NM_000052,ATPase, Cu++ transporting, alpha polypeptide,1500aa) | g.X:77294411A>G,c.3589A>G,p.N1197D |
| ATP7A(NM_000052,ATPase, Cu++ transporting, alpha polypeptide,1500aa) | g.X:77286898G>A,c.3112G>A,p.V1038I |
| ATP7A(NM_000052,ATPase, Cu++ transporting, alpha polypeptide,1500aa) | g.X:77276563A>G,c.2903A>G,p.E968G |
| ATP7A(NM_000052,ATPase, Cu++ transporting, alpha polypeptide,1500aa) | g.X:77268502G>C,c.2299G>C,p.V767L |
| ATP6V1H(NM_015941,ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H,483aa) | g.8:54754250T>C,c.1A>G,p.M1V |
| ATP6V1H(NM_015941,ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H,483aa) | g.8:54742078T>C,c.232A>G,p.I78V |
| ATP6V1H(NM_015941,ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H,483aa) | g.8:54742024T>C,c.286A>G,p.M96V |
| ATP6V1H(NM_015941,ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H,483aa) | g.8:54727326C>T,c.421G>A,p.A141T |
| ATP6V1H(NM_015941,ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H,483aa) | g.8:54684693C>T,c.905G>A,p.R302H |
| ATP6V1G3(NM_133326,ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3,59aa) | g.1:198509772G>C,c.9C>G,p.S3R |
| ATP6V1G3(NM_133326,ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3,59aa) | g.1:198505830C>T,c.107G>A,p.R36Q |
| ATP6V1G2(NM_130463,ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2,118aa) | g.6:31513911T>C,c.158A>G,p.H53R |
| ATP6V1G2(NM_130463,ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2,118aa) | g.6:31513199G>A,c.343C>T,p.R115W |
| ATP6V1G1(NM_004888,ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1,118aa) | g.9:117354865A>C,c.116A>C,p.E39A |
| ATP6V1F(NM_001198909,ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F,147aa) | g.7:128505573G>A,c.385G>A,p.A129T |
| ATP6V1F(NM_001198909,ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F,147aa) | g.7:128505233C>T,c.218C>T,p.P73L |
| ATP6V1F(NM_001198909,ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F,147aa) | g.7:128505224G>A,c.209G>A,p.R70H |
| ATP6V1E2(NM_080653,ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2,226aa) | g.2:46739727T>G,c.124A>C,p.K42Q |
| ATP6V1E2(NM_080653,ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2,226aa) | g.2:46739721G>A,c.130C>T,p.R44C |
| ATP6V1E2(NM_080653,ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2,226aa) | g.2:46739720C>T,c.131G>A,p.R44H |
| ATP6V1E2(NM_080653,ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2,226aa) | g.2:46739715C>T,c.136G>A,p.V46M |
| ATP6V1E2(NM_080653,ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2,226aa) | g.2:46739703G>A,c.148C>T,p.R50X |