NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys)
|
rs200276550
|
0.00004
|
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)
|
rs146262009
|
0.00004
|
NM_001128126.3(AP4S1):c.138+2T>G
|
rs377679827
|
0.00002
|
NM_001128126.3(AP4S1):c.295-3C>A
|
rs185246578
|
0.00002
|
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln)
|
rs149705131
|
0.00002
|
NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln)
|
rs531148057
|
0.00002
|
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)
|
rs776976178
|
0.00001
|
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter)
|
rs767220480
|
0.00001
|
NM_004722.4(AP4M1):c.1137+1G>T
|
rs770705832
|
0.00001
|
NM_004722.4(AP4M1):c.142del (p.Val48fs)
|
rs764326593
|
0.00001
|
NM_004722.4(AP4M1):c.463-2A>T
|
rs750783717
|
0.00001
|
NM_004722.4(AP4M1):c.607-2A>G
|
rs755533568
|
0.00001
|
NM_007347.5(AP4E1):c.2804G>A (p.Trp935Ter)
|
rs2064899680
|
0.00001
|
NM_001128126.3(AP4S1):c.295-1G>A
|
rs2139098086
|
|
NM_001253852.3(AP4B1):c.1066del (p.Cys356fs)
|
|
|
NM_001253852.3(AP4B1):c.1106_1114+8del
|
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001253852.3(AP4B1):c.1544del (p.Gly515fs)
|
rs1667419336
|
|
NM_001253852.3(AP4B1):c.1612del (p.Ser538fs)
|
|
|
NM_001253852.3(AP4B1):c.338+5G>A
|
rs1019204290
|
|
NM_004722.4(AP4M1):c.1138-1G>A
|
|
|
NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu)
|
rs760907496
|
|
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)
|
rs886041126
|
|
NM_004722.4(AP4M1):c.203del (p.Val68fs)
|
rs1584507780
|
|
NM_004722.4(AP4M1):c.32del (p.Lys11fs)
|
rs797045249
|
|
NM_004722.4(AP4M1):c.498del (p.Ser167fs)
|
rs766513025
|
|
NM_004722.4(AP4M1):c.58+1_58+2del
|
rs1796054104
|
|
NM_004722.4(AP4M1):c.58+2T>G
|
rs1554377262
|
|
NM_004722.4(AP4M1):c.607-2_607-1del
|
|
|
NM_004722.4(AP4M1):c.851A>C (p.Tyr284Ser)
|
rs1554380391
|
|
NM_004722.4(AP4M1):c.930-1G>C
|
|
|
NM_007347.5(AP4E1):c.1317-2A>C
|
rs1567230528
|
|
NM_007347.5(AP4E1):c.1558dup (p.Glu520fs)
|
|
|