| Genename | Variants |
|---|---|
| AP5B1(NM_138368,adaptor-related protein complex 5, beta 1 subunit,878aa) | g.11:65546769G>A,c.1195C>T,p.R399C |
| AP5B1(NM_138368,adaptor-related protein complex 5, beta 1 subunit,878aa) | g.11:65546763G>A,c.1201C>T,p.L401F |
| AP5B1(NM_138368,adaptor-related protein complex 5, beta 1 subunit,878aa) | g.11:65546655G>A,c.1309C>T,p.P437S |
| AP5B1(NM_138368,adaptor-related protein complex 5, beta 1 subunit,878aa) | g.11:65546415C>T,c.1549G>A,p.E517K |
| AP5B1(NM_138368,adaptor-related protein complex 5, beta 1 subunit,878aa) | g.11:65546372G>A,c.1592C>T,p.P531L |
| AP5B1(NM_138368,adaptor-related protein complex 5, beta 1 subunit,878aa) | g.11:65546346G>A,c.1618C>T,p.H540Y |
| AP5B1(NM_138368,adaptor-related protein complex 5, beta 1 subunit,878aa) | g.11:65546126C>T,c.1838G>A,p.R613H |
| AP5B1(NM_138368,adaptor-related protein complex 5, beta 1 subunit,878aa) | g.11:65545913G>A,c.2051C>T,p.P684L |
| AP5B1(NM_138368,adaptor-related protein complex 5, beta 1 subunit,878aa) | g.11:65545907G>A,c.2057C>T,p.A686V |
| AP5B1(NM_138368,adaptor-related protein complex 5, beta 1 subunit,878aa) | g.11:65545821G>C,c.2143C>G,p.L715V |
| AP5B1(NM_138368,adaptor-related protein complex 5, beta 1 subunit,878aa) | g.11:65545574C>T,c.2390G>A,p.R797H |
| AP5B1(NM_138368,adaptor-related protein complex 5, beta 1 subunit,878aa) | g.11:65545377C>T,c.2587G>A,p.V863M |
| AP4M1(NM_004722,adaptor-related protein complex 4, mu 1 subunit,453aa) | g.7:99704485G>A,c.1342G>A,p.A448T |
| AP4M1(NM_004722,adaptor-related protein complex 4, mu 1 subunit,453aa) | g.7:99703122C>T,c.889C>T,p.R297W |
| AP4M1(NM_004722,adaptor-related protein complex 4, mu 1 subunit,453aa) | g.7:99702947G>A,c.812G>A,p.R271H |
| AP4M1(NM_004722,adaptor-related protein complex 4, mu 1 subunit,453aa) | g.7:99701292G>A,c.520G>A,p.V174I |
| AP4M1(NM_004722,adaptor-related protein complex 4, mu 1 subunit,453aa) | g.7:99701060C>T,c.380C>T,p.T127M |
| AP4M1(NM_004722,adaptor-related protein complex 4, mu 1 subunit,453aa) | g.7:99700565A>C,c.333A>C,p.E111D |
| AP4E1(NM_001252127,adaptor-related protein complex 4, epsilon 1 subunit,1062aa) | g.15:51293344C>A,c.2992C>A,p.Q998K |
| AP4E1(NM_001252127,adaptor-related protein complex 4, epsilon 1 subunit,1062aa) | g.15:51291296C>T,c.2707C>T,p.P903S |
| AP4E1(NM_001252127,adaptor-related protein complex 4, epsilon 1 subunit,1062aa) | g.15:51289556A>G,c.2155A>G,p.R719G |
| AP4E1(NM_001252127,adaptor-related protein complex 4, epsilon 1 subunit,1062aa) | g.15:51260460G>A,c.1627G>A,p.V543I |
| AP4E1(NM_001252127,adaptor-related protein complex 4, epsilon 1 subunit,1062aa) | g.15:51250944C>T,c.1579C>T,p.L527F |
| AP4E1(NM_001252127,adaptor-related protein complex 4, epsilon 1 subunit,1062aa) | g.15:51250834C>T,c.1469C>T,p.A490V |
| AP4E1(NM_001252127,adaptor-related protein complex 4, epsilon 1 subunit,1062aa) | g.15:51242130C>T,c.1199C>T,p.A400V |
| AP4E1(NM_001252127,adaptor-related protein complex 4, epsilon 1 subunit,1062aa) | g.15:51233687C>T,c.767C>T,p.S256L |
| AP4E1(NM_001252127,adaptor-related protein complex 4, epsilon 1 subunit,1062aa) | g.15:51223090A>G,c.566A>G,p.N189S |
| AP4E1(NM_001252127,adaptor-related protein complex 4, epsilon 1 subunit,1062aa) | g.15:51217361T>C,c.262T>C,p.C88R |