| Genename | Variants |
|---|---|
| AP4B1(NM_006594,adaptor-related protein complex 4, beta 1 subunit,739aa) | g.1:114445447T>G,c.151A>C,p.M51L |
| AP4B1(NM_006594,adaptor-related protein complex 4, beta 1 subunit,739aa) | g.1:114442672G>A,c.968C>T,p.S323L |
| AP4B1(NM_006594,adaptor-related protein complex 4, beta 1 subunit,739aa) | g.1:114442558G>A,c.1082C>T,p.A361V |
| AP4B1(NM_006594,adaptor-related protein complex 4, beta 1 subunit,739aa) | g.1:114438951A>G,c.1439T>C,p.L480S |
| AP4B1(NM_006594,adaptor-related protein complex 4, beta 1 subunit,739aa) | g.1:114438448T>C,c.1723A>G,p.I575V |
| AP4B1(NM_006594,adaptor-related protein complex 4, beta 1 subunit,739aa) | g.1:114438013C>G,c.1894G>C,p.E632Q |
| AP4B1(NM_006594,adaptor-related protein complex 4, beta 1 subunit,739aa) | g.1:114437707T>C,c.2200A>G,p.I734V |
| AP3S1(NM_001284,adaptor-related protein complex 3, sigma 1 subunit,193aa) | g.5:115249153G>A,c.548G>A,p.S183N |
| AP3S1(NM_001284,adaptor-related protein complex 3, sigma 1 subunit,193aa) | g.5:115249078C>T,c.473C>T,p.P158L |
| AP3S1(NM_001284,adaptor-related protein complex 3, sigma 1 subunit,193aa) | g.5:115238605G>A,c.369G>A,p.M123I |
| AP3S1(NM_001284,adaptor-related protein complex 3, sigma 1 subunit,193aa) | g.5:115238589A>G,c.353A>G,p.N118S |
| AP3M2(NM_001134296,adaptor-related protein complex 3, mu 2 subunit,418aa) | g.8:42024875G>A,c.997G>A,p.D333N |
| AP3M2(NM_001134296,adaptor-related protein complex 3, mu 2 subunit,418aa) | g.8:42023047C>T,c.772C>T,p.R258C |
| AP3M2(NM_001134296,adaptor-related protein complex 3, mu 2 subunit,418aa) | g.8:42012347G>A,c.142G>A,p.V48I |
| AP3M1(NM_207012,adaptor-related protein complex 3, mu 1 subunit,418aa) | g.10:75896420T>C,c.415A>G,p.I139V |
| AP3M1(NM_207012,adaptor-related protein complex 3, mu 1 subunit,418aa) | g.10:75888896C>T,c.773G>A,p.R258Q |
| AP3D1(NM_001261826,adaptor-related protein complex 3, delta 1 subunit,1215aa) | g.19:2138704T>C,c.106A>G,p.I36V |
| AP3D1(NM_001261826,adaptor-related protein complex 3, delta 1 subunit,1215aa) | g.19:2120979C>T,c.1363G>A,p.A455T |
| AP3D1(NM_001261826,adaptor-related protein complex 3, delta 1 subunit,1215aa) | g.19:2118692C>T,c.1621G>A,p.G541R |
| AP3D1(NM_001261826,adaptor-related protein complex 3, delta 1 subunit,1215aa) | g.19:2116710G>A,c.1895C>T,p.S632L |
| AP3D1(NM_001261826,adaptor-related protein complex 3, delta 1 subunit,1215aa) | g.19:2115596G>A,c.2090C>T,p.P697L |
| AP3D1(NM_001261826,adaptor-related protein complex 3, delta 1 subunit,1215aa) | g.19:2109157T>C,c.3400A>G,p.I1134V |
| AP3B2(NM_001278512,adaptor-related protein complex 3, beta 2 subunit,1101aa) | g.15:83333140_83333145del,c.2235_2240del,p.745_747del |
| AP3B2(NM_001278512,adaptor-related protein complex 3, beta 2 subunit,1101aa) | g.15:83331487T>C,c.2792A>G,p.K931R |
| AP3B2(NM_001278512,adaptor-related protein complex 3, beta 2 subunit,1101aa) | g.15:83330605C>T,c.2988G>A,p.M996I |
| AP3B2(NM_001278512,adaptor-related protein complex 3, beta 2 subunit,1101aa) | g.15:83328607C>T,c.3145G>A,p.D1049N |
| AP3B1(NM_001271769,adaptor-related protein complex 3, beta 1 subunit,1045aa) | g.5:77477362G>A,c.764C>T,p.T255I |
| AP3B1(NM_001271769,adaptor-related protein complex 3, beta 1 subunit,1045aa) | g.5:77473181C>T,c.875G>A,p.R292H |