Genename |
Variants |
AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) |
g.7:4827298G>A,c.1345G>A,p.E449K |
AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) |
g.7:4825307T>A,c.1124T>A,p.L375Q |
AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) |
g.7:4825186C>G,c.1003C>G,p.L335V |
AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) |
g.7:4823985C>T,c.773C>T,p.P258L |
AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) |
g.7:4823883C>T,c.671C>T,p.T224M |
AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) |
g.7:4823392A>G,c.584A>G,p.H195R |
AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) |
g.7:4823070A>G,c.490A>G,p.S164G |
AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) |
g.7:4823061G>A,c.481G>A,p.V161M |
AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) |
g.7:4822972C>T,c.392C>T,p.A131V |
AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) |
g.7:4821352G>C,c.333G>C,p.Q111H |
AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) |
g.7:4821300C>G,c.281C>G,p.S94C |
AP5Z1(NM_014855,adaptor-related protein complex 5, zeta 1 subunit,807aa) |
g.7:4820928C>T,c.164C>T,p.T55M |
AP5S1(NM_001204446,adaptor-related protein complex 5, sigma 1 subunit,200aa) |
g.20:3804858T>G,c.517T>G,p.F173V |
AP5S1(NM_001204446,adaptor-related protein complex 5, sigma 1 subunit,200aa) |
g.20:3804760G>A,c.419G>A,p.R140Q |
AP5S1(NM_001204446,adaptor-related protein complex 5, sigma 1 subunit,200aa) |
g.20:3804690G>A,c.349G>A,p.V117M |
AP5S1(NM_001204446,adaptor-related protein complex 5, sigma 1 subunit,200aa) |
g.20:3804537C>T,c.196C>T,p.R66W |
AP5S1(NM_001204446,adaptor-related protein complex 5, sigma 1 subunit,200aa) |
g.20:3804531A>G,c.190A>G,p.M64V |
AP5M1(NM_018229,adaptor-related protein complex 5, mu 1 subunit,490aa) |
g.14:57755564G>A,c.1435G>A,p.A479T |
AP5M1(NM_018229,adaptor-related protein complex 5, mu 1 subunit,490aa) |
g.14:57749854A>C,c.1199A>C,p.E400A |
AP5M1(NM_018229,adaptor-related protein complex 5, mu 1 subunit,490aa) |
g.14:57749700A>C,c.1137A>C,p.E379D |
AP5M1(NM_018229,adaptor-related protein complex 5, mu 1 subunit,490aa) |
g.14:57749688T>G,c.1125T>G,p.F375L |
AP5M1(NM_018229,adaptor-related protein complex 5, mu 1 subunit,490aa) |
g.14:57746968A>G,c.776A>G,p.N259S |
AP5M1(NM_018229,adaptor-related protein complex 5, mu 1 subunit,490aa) |
g.14:57741263A>T,c.376A>T,p.S126C |
AP5M1(NM_018229,adaptor-related protein complex 5, mu 1 subunit,490aa) |
g.14:57741102G>A,c.215G>A,p.R72H |
AP5B1(NM_138368,adaptor-related protein complex 5, beta 1 subunit,878aa) |
g.11:65547791A>G,c.173T>C,p.M58T |
AP5B1(NM_138368,adaptor-related protein complex 5, beta 1 subunit,878aa) |
g.11:65547455C>A,c.509G>T,p.G170V |
AP5B1(NM_138368,adaptor-related protein complex 5, beta 1 subunit,878aa) |
g.11:65547350G>A,c.614C>T,p.A205V |
AP5B1(NM_138368,adaptor-related protein complex 5, beta 1 subunit,878aa) |
g.11:65547333G>A,c.631C>T,p.L211F |