Genename |
Variants |
AP1G2(NM_003917,adaptor-related protein complex 1, gamma 2 subunit,785aa) |
g.14:24033791G>A,c.901C>T,p.R301C |
AP1G2(NM_003917,adaptor-related protein complex 1, gamma 2 subunit,785aa) |
g.14:24033790C>T,c.902G>A,p.R301H |
AP1G2(NM_003917,adaptor-related protein complex 1, gamma 2 subunit,785aa) |
g.14:24033254C>T,c.1091+1G>A,p.364Donor |
AP1G2(NM_003917,adaptor-related protein complex 1, gamma 2 subunit,785aa) |
g.14:24033027G>A,c.1130C>T,p.S377F |
AP1G2(NM_003917,adaptor-related protein complex 1, gamma 2 subunit,785aa) |
g.14:24032695C>T,c.1304G>A,p.R435Q |
AP1G2(NM_003917,adaptor-related protein complex 1, gamma 2 subunit,785aa) |
g.14:24032662A>G,c.1337T>C,p.I446T |
AP1G2(NM_003917,adaptor-related protein complex 1, gamma 2 subunit,785aa) |
g.14:24032626C>T,c.1373G>A,p.R458H |
AP1G2(NM_003917,adaptor-related protein complex 1, gamma 2 subunit,785aa) |
g.14:24031771A>G,c.1442T>C,p.I481T |
AP1G2(NM_003917,adaptor-related protein complex 1, gamma 2 subunit,785aa) |
g.14:24031268G>A,c.1636C>T,p.R546C |
AP1G2(NM_003917,adaptor-related protein complex 1, gamma 2 subunit,785aa) |
g.14:24031190G>A,c.1714C>T,p.R572W |
AP1G2(NM_003917,adaptor-related protein complex 1, gamma 2 subunit,785aa) |
g.14:24029558del,c.2063del,p.688fs |
AP1G2(NM_003917,adaptor-related protein complex 1, gamma 2 subunit,785aa) |
g.14:24029155G>A,c.2248C>T,p.P750S |
AP1G2(NM_003917,adaptor-related protein complex 1, gamma 2 subunit,785aa) |
g.14:24029037C>T,c.2279G>A,p.R760H |
AP1G1(NM_001030007,adaptor-related protein complex 1, gamma 1 subunit,825aa) |
g.16:71803539G>A,c.629C>T,p.A210V |
AP1G1(NM_001030007,adaptor-related protein complex 1, gamma 1 subunit,825aa) |
g.16:71784201T>C,c.1328A>G,p.N443S |
AP1G1(NM_001030007,adaptor-related protein complex 1, gamma 1 subunit,825aa) |
g.16:71779100G>A,c.1955C>T,p.P652L |
AP1G1(NM_001030007,adaptor-related protein complex 1, gamma 1 subunit,825aa) |
g.16:71773190G>T,c.2063C>A,p.P688H |
AP1B1(NM_001127,adaptor-related protein complex 1, beta 1 subunit,949aa) |
g.22:29747191C>T,c.1124G>A,p.R375H |
AP1B1(NM_001127,adaptor-related protein complex 1, beta 1 subunit,949aa) |
g.22:29737551T>C,c.1735A>G,p.S579G |
AP1B1(NM_001127,adaptor-related protein complex 1, beta 1 subunit,949aa) |
g.22:29736764C>T,c.1879G>A,p.D627N |
AP1B1(NM_001127,adaptor-related protein complex 1, beta 1 subunit,949aa) |
g.22:29735017C>T,c.2125G>A,p.V709M |
AP1B1(NM_001127,adaptor-related protein complex 1, beta 1 subunit,949aa) |
g.22:29727886T>C,c.2329A>G,p.T777A |
AP1B1(NM_001127,adaptor-related protein complex 1, beta 1 subunit,949aa) |
g.22:29726624G>A,c.2599C>T,p.P867S |
AP1AR(NM_018569,adaptor-related protein complex 1 associated regulatory protein,302aa) |
g.4:113186198C>T,c.415C>T,p.P139S |
AP1AR(NM_018569,adaptor-related protein complex 1 associated regulatory protein,302aa) |
g.4:113174366C>T,c.86C>T,p.S29F |
AOX1(NM_001159,aldehyde oxidase 1,1338aa) |
g.2:201534389A>G,c.3890A>G,p.H1297R |
AOX1(NM_001159,aldehyde oxidase 1,1338aa) |
g.2:201534331T>A,c.3832T>A,p.S1278T |
AOX1(NM_001159,aldehyde oxidase 1,1338aa) |
g.2:201534311C>T,c.3812C>T,p.S1271L |