| Genename | Variants |
|---|---|
| ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) | g.18:55329801C>T,c.2332G>A,p.V778I |
| ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) | g.18:55329753C>T,c.2380G>A,p.G794S |
| ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) | g.18:55322586T>C,c.2771A>G,p.Y924C |
| ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) | g.18:55322568C>T,c.2789G>A,p.R930Q |
| ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) | g.18:55322502C>T,c.2855G>A,p.R952Q |
| ATP8B1(NM_005603,ATPase, aminophospholipid transporter, class I, type 8B, member 1,1251aa) | g.18:55317676C>T,c.3454G>A,p.A1152T |
| ATP8A2(NM_016529,ATPase, aminophospholipid transporter, class I, type 8A, member 2,1188aa) | g.13:26535734G>A,c.3205G>A,p.A1069T |
| ATP8A2(NM_016529,ATPase, aminophospholipid transporter, class I, type 8A, member 2,1188aa) | g.13:26413702A>G,c.2896A>G,p.I966V |
| ATP8A2(NM_016529,ATPase, aminophospholipid transporter, class I, type 8A, member 2,1188aa) | g.13:26273432G>A,c.2333G>A,p.R778Q |
| ATP8A2(NM_016529,ATPase, aminophospholipid transporter, class I, type 8A, member 2,1188aa) | g.13:26273377G>A,c.2278G>A,p.V760M |
| ATP8A2(NM_016529,ATPase, aminophospholipid transporter, class I, type 8A, member 2,1188aa) | g.13:26156087T>C,c.2138T>C,p.I713T |
| ATP8A2(NM_016529,ATPase, aminophospholipid transporter, class I, type 8A, member 2,1188aa) | g.13:26151251G>A,c.1757G>A,p.R586Q |
| ATP8A2(NM_016529,ATPase, aminophospholipid transporter, class I, type 8A, member 2,1188aa) | g.13:26148978T>A,c.1695T>A,p.N565K |
| ATP8A2(NM_016529,ATPase, aminophospholipid transporter, class I, type 8A, member 2,1188aa) | g.13:26043234A>C,c.196A>C,p.N66H |
| ATP8A1(NM_006095,ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1,1164aa) | g.4:42576655T>C,c.1276A>G,p.I426V |
| ATP8A1(NM_006095,ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1,1164aa) | g.4:42576646C>T,c.1285G>A,p.V429I |
| ATP8A1(NM_006095,ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1,1164aa) | g.4:42551048T>C,c.1634A>G,p.N545S |
| ATP8A1(NM_006095,ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1,1164aa) | g.4:42509101G>A,c.2018C>T,p.T673M |
| ATP8A1(NM_006095,ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1,1164aa) | g.4:42487663C>T,c.2174G>A,p.R725H |
| ATP8A1(NM_006095,ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1,1164aa) | g.4:42466813T>C,c.2513A>G,p.K838R |
| ATP8A1(NM_006095,ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1,1164aa) | g.4:42466780G>C,c.2546C>G,p.A849G |
| ATP8A1(NM_006095,ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1,1164aa) | g.4:42457348T>C,c.2783A>G,p.K928R |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52549234T>C,c.122A>G,p.N41S |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52548914G>A,c.442C>T,p.R148W |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52548608C>T,c.748G>A,p.G250R |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52548140A>C,c.1216T>G,p.S406A |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52544820C>T,c.1351G>A,p.G451S |
| ATP7B(NM_000053,ATPase, Cu++ transporting, beta polypeptide,1465aa) | g.13:52544805C>G,c.1366G>C,p.V456L |