| Genename | Variants |
|---|---|
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52544745C>T,c.1426G>A,p.A476T |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52542732C>T,c.1555G>A,p.V519M |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52542680A>G,c.1607T>C,p.V536A |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52535997A>G,c.1922T>C,p.L641S |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52534376C>T,c.2029G>A,p.E677K |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52532627C>T,c.2175G>A,p.R725R |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52532497_52532498insG,c.2304_2305insC,p.768fs |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52532469C>A,c.2333G>T,p.R778L |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52524492C>T,c.2491G>A,p.V831I |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52524488T>C,c.2495A>G,p.K832R |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52524268C>T,c.2605G>A,p.G869R |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52524252G>A,c.2621C>T,p.A874V |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52523908G>C,c.2755C>G,p.R919G |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52523808C>T,c.2855G>A,p.R952K |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52520574C>T,c.2906G>A,p.R969Q |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52520559G>A,c.2921C>T,p.T974M |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52520508G>A,c.2972C>T,p.T991M |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52520505G>A,c.2975C>T,p.P992L |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52516659G>A,c.3275C>T,p.T1092M |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52516566G>A,c.3368C>T,p.P1123L |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52516558G>A,c.3376C>T,p.H1126Y |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52516532del,c.3402del,p.1134fs |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52516531C>T,c.3403G>A,p.A1135T |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52515354A>G,c.3419T>C,p.V1140A |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52515330A>G,c.3443T>C,p.I1148T |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52513303C>T,c.3583G>A,p.A1195T |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52513266T>C,c.3620A>G,p.H1207R |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52513198T>C,c.3688A>G,p.I1230V |