NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)
|
rs376478015
|
0.00009
|
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter)
|
rs374894037
|
0.00004
|
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)
|
rs529495094
|
0.00004
|
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)
|
rs146262009
|
0.00004
|
NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter)
|
rs777248758
|
0.00003
|
NM_004722.4(AP4M1):c.1320dup (p.Arg441fs)
|
rs1437455190
|
0.00003
|
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter)
|
rs369459721
|
0.00003
|
NM_001253852.3(AP4B1):c.894T>A (p.Cys298Ter)
|
rs746462207
|
0.00002
|
NM_001253852.3(AP4B1):c.1057C>T (p.Arg353Ter)
|
rs138335735
|
0.00001
|
NM_001253852.3(AP4B1):c.114-2A>G
|
rs879255396
|
0.00001
|
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.10C>T (p.Gln4Ter)
|
rs777220438
|
0.00001
|
NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter)
|
rs1562912305
|
0.00001
|
NM_004722.4(AP4M1):c.1137+1G>T
|
rs770705832
|
0.00001
|
NM_004722.4(AP4M1):c.1317G>A (p.Trp439Ter)
|
rs772119268
|
0.00001
|
NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys)
|
rs387906838
|
0.00001
|
NM_004722.4(AP4M1):c.802C>T (p.Arg268Ter)
|
rs780030221
|
0.00001
|
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg)
|
rs754498075
|
0.00001
|
GRCh38/hg38 15q21.2(chr15:50923067-50925830)x0
|
|
|
NC_000001.10:g.(?_112318699)_(115576848_?)del
|
|
|
NC_000015.10:g.50755991_50948682del
|
|
|
NM_000039.3(APOA1):c.43+1G>T
|
rs2134233729
|
|
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter)
|
rs387906970
|
|
NM_001128126.3(AP4S1):c.138+3_138+6del
|
rs876661295
|
|
NM_001128126.3(AP4S1):c.365_366delinsAG (p.Cys122Ter)
|
|
|
NM_001253852.3(AP4B1):c.1112_1113insGGAGC (p.Ile371fs)
|
|
|
NM_001253852.3(AP4B1):c.1122_1123insTTGTAGGTGCCAGGACTTCTTTTGTAGGT (p.Ala375delinsLeuTer)
|
|
|
NM_001253852.3(AP4B1):c.114-2A>C
|
rs879255396
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001253852.3(AP4B1):c.1181_1182del (p.Gln394fs)
|
rs2101015147
|
|
NM_001253852.3(AP4B1):c.1240C>T (p.Gln414Ter)
|
|
|
NM_001253852.3(AP4B1):c.1317dup (p.Ile440fs)
|
|
|
NM_001253852.3(AP4B1):c.1324_1331del (p.Leu442fs)
|
|
|
NM_001253852.3(AP4B1):c.1365T>A (p.Tyr455Ter)
|
rs114201291
|
|
NM_001253852.3(AP4B1):c.1459C>T (p.Arg487Ter)
|
rs771888480
|
|
NM_001253852.3(AP4B1):c.1490_1503del (p.Arg497fs)
|
rs1553257236
|
|
NM_001253852.3(AP4B1):c.1510+2T>C
|
rs1667449135
|
|
NM_001253852.3(AP4B1):c.219C>A (p.Cys73Ter)
|
rs2101044378
|
|
NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs)
|
rs797045244
|
|
NM_001253852.3(AP4B1):c.313del (p.Ala105fs)
|
rs587783179
|
|
NM_001253852.3(AP4B1):c.352C>T (p.Gln118Ter)
|
rs1013939776
|
|
NM_001253852.3(AP4B1):c.388_389dup (p.Asp131fs)
|
|
|
NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer)
|
rs1553259463
|
|
NM_001253852.3(AP4B1):c.444dup (p.Asn149Ter)
|
|
|
NM_001253852.3(AP4B1):c.487_488insTAT (p.Glu163delinsValTer)
|
rs2101035173
|
|
NM_001253852.3(AP4B1):c.52_53del (p.Cys18fs)
|
|
|
NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter)
|
rs762612591
|
|
NM_001253852.3(AP4B1):c.664del (p.Leu222fs)
|
rs1571563769
|
|
NM_001253852.3(AP4B1):c.876_877del (p.Cys293fs)
|
|
|
NM_001253852.3(AP4B1):c.926del (p.Gly309fs)
|
rs2101025777
|
|
NM_001253852.3(AP4B1):c.967del (p.Ser323fs)
|
rs745580319
|
|
NM_001253852.3(AP4B1):c.985A>T (p.Lys329Ter)
|
rs2101024933
|
|
NM_004722.4(AP4M1):c.1012del (p.Arg338fs)
|
rs2116668499
|
|
NM_004722.4(AP4M1):c.1183_1196del (p.Thr395fs)
|
|
|
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)
|
rs886041126
|
|
NM_004722.4(AP4M1):c.218dup (p.Asn73fs)
|
rs1321353475
|
|
NM_004722.4(AP4M1):c.32del (p.Lys11fs)
|
rs797045249
|
|
NM_004722.4(AP4M1):c.403C>T (p.Gln135Ter)
|
|
|
NM_004722.4(AP4M1):c.52_58+6del
|
rs1350685858
|
|
NM_004722.4(AP4M1):c.547C>T (p.Gln183Ter)
|
rs1796279189
|
|
NM_004722.4(AP4M1):c.555_556del (p.Asn185fs)
|
rs2116643498
|
|
NM_004722.4(AP4M1):c.568del (p.Asp190fs)
|
|
|
NM_004722.4(AP4M1):c.63_64del (p.Asp23fs)
|
|
|
NM_004722.4(AP4M1):c.697G>T (p.Glu233Ter)
|
|
|
NM_004722.4(AP4M1):c.776_777del (p.Val259fs)
|
rs1397027035
|
|
NM_004722.4(AP4M1):c.842_843del (p.Val281fs)
|
rs776788025
|
|
NM_004722.4(AP4M1):c.861dup (p.Asp288fs)
|
|
|
NM_004722.4(AP4M1):c.923C>G (p.Ser308Ter)
|
rs1131691556
|
|
NM_004722.4(AP4M1):c.929+5G>A
|
rs1293317548
|
|
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)
|
rs730882249
|
|
NM_006594.5:c.667del
|
rs2101027843
|
|
NM_007347.5(AP4E1):c.1359_1360insNN (p.Val454fs)
|
rs2140861877
|
|
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter)
|
rs1313275799
|
|
NM_007347.5(AP4E1):c.542+5_542+8del
|
rs2141147450
|
|
NM_007347.5(AP4E1):c.942_943+3delinsCC
|
rs2141164878
|
|