Genename |
Variants |
AP3B1(NM_001271769,adaptor-related protein complex 3, beta 1 subunit,1045aa) |
g.5:77471634T>C,c.922A>G,p.I308V |
AP3B1(NM_001271769,adaptor-related protein complex 3, beta 1 subunit,1045aa) |
g.5:77471628T>C,c.928A>G,p.T310A |
AP3B1(NM_001271769,adaptor-related protein complex 3, beta 1 subunit,1045aa) |
g.5:77425034G>A,c.1601C>T,p.P534L |
AP3B1(NM_001271769,adaptor-related protein complex 3, beta 1 subunit,1045aa) |
g.5:77425028A>T,c.1607T>A,p.V536E |
AP3B1(NM_001271769,adaptor-related protein complex 3, beta 1 subunit,1045aa) |
g.5:77409744C>T,c.1934G>A,p.S645N |
AP3B1(NM_001271769,adaptor-related protein complex 3, beta 1 subunit,1045aa) |
g.5:77409693T>A,c.1985A>T,p.D662V |
AP3B1(NM_001271769,adaptor-related protein complex 3, beta 1 subunit,1045aa) |
g.5:77396836_77396838del,c.2262_2264del,p.754_755del |
AP3B1(NM_001271769,adaptor-related protein complex 3, beta 1 subunit,1045aa) |
g.5:77335015G>T,c.2514C>A,p.F838L |
AP3B1(NM_001271769,adaptor-related protein complex 3, beta 1 subunit,1045aa) |
g.5:77334907T>G,c.2622A>C,p.K874N |
AP3B1(NM_001271769,adaptor-related protein complex 3, beta 1 subunit,1045aa) |
g.5:77311370C>T,c.2848G>A,p.V950M |
AP2B1(NM_001030006,adaptor-related protein complex 2, beta 1 subunit,951aa) |
g.17:34001246A>G,c.2230A>G,p.T744A |
AP2B1(NM_001030006,adaptor-related protein complex 2, beta 1 subunit,951aa) |
g.17:33998897G>A,c.2156G>A,p.G719D |
AP2A2(NM_001242837,adaptor-related protein complex 2, alpha 2 subunit,940aa) |
g.11:1009207A>T,c.2531A>T,p.Q844L |
AP2A1(NM_014203,adaptor-related protein complex 2, alpha 1 subunit,977aa) |
g.19:50309974G>A,c.2893G>A,p.V965I |
AP2A1(NM_014203,adaptor-related protein complex 2, alpha 1 subunit,977aa) |
g.19:50298969G>A,c.788G>A,p.R263Q |
AP2A1(NM_014203,adaptor-related protein complex 2, alpha 1 subunit,977aa) |
g.19:50285953G>A,c.445G>A,p.A149T |
AP1S3(NM_001039569,adaptor-related protein complex 1, sigma 3 subunit,154aa) |
g.2:224642579A>C,c.11T>G,p.F4C |
AP1S3(NM_001039569,adaptor-related protein complex 1, sigma 3 subunit,154aa) |
g.2:224642509C>G,c.81G>C,p.E27D |
AP1S3(NM_001039569,adaptor-related protein complex 1, sigma 3 subunit,154aa) |
g.2:224642495G>A,c.95C>T,p.T32I |
AP1S3(NM_001039569,adaptor-related protein complex 1, sigma 3 subunit,154aa) |
g.2:224642493G>A,c.97C>T,p.R33W |
AP1S3(NM_001039569,adaptor-related protein complex 1, sigma 3 subunit,154aa) |
g.2:224640674A>C,c.235T>G,p.L79V |
AP1S3(NM_001039569,adaptor-related protein complex 1, sigma 3 subunit,154aa) |
g.2:224640661A>G,c.248T>C,p.I83T |
AP1M2(NM_005498,adaptor-related protein complex 1, mu 2 subunit,423aa) |
g.19:10694295T>C,c.254A>G,p.Y85C |
AP1M2(NM_005498,adaptor-related protein complex 1, mu 2 subunit,423aa) |
g.19:10687996C>T,c.925G>A,p.G309S |
AP1M1(NM_001130524,adaptor-related protein complex 1, mu 1 subunit,435aa) |
g.19:16319899G>A,c.457G>A,p.V153I |
AP1M1(NM_001130524,adaptor-related protein complex 1, mu 1 subunit,435aa) |
g.19:16317196T>G,c.244T>G,p.S82A |
AP1G2(NM_003917,adaptor-related protein complex 1, gamma 2 subunit,785aa) |
g.14:24036478G>A,c.46C>T,p.R16C |
AP1G2(NM_003917,adaptor-related protein complex 1, gamma 2 subunit,785aa) |
g.14:24035057G>A,c.613C>T,p.R205X |