NM_001128126.3(AP4S1):c.295-34T>G
|
rs11621299
|
0.88578
|
NM_007347.5(AP4E1):c.1967-91A>G
|
rs2306335
|
0.79763
|
NM_007347.5(AP4E1):c.542+59G>A
|
rs2306332
|
0.60959
|
NM_004722.4(AP4M1):c.544-75T>C
|
rs4729577
|
0.57574
|
NM_004722.4(AP4M1):c.147+35T>C
|
rs2293481
|
0.57556
|
NM_007347.5(AP4E1):c.222+48_222+49insT
|
rs3214932
|
0.57174
|
NM_007347.5(AP4E1):c.346+50G>C
|
rs2663553
|
0.57162
|
NM_007347.5(AP4E1):c.222+18G>A
|
rs1147129
|
0.56600
|
NM_001128126.3(AP4S1):c.139-110A>G
|
rs7150619
|
0.46271
|
NM_004722.4(AP4M1):c.462+34G>A
|
rs999885
|
0.46041
|
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg)
|
rs2306331
|
0.43394
|
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser)
|
rs1217401
|
0.42071
|
NM_001253852.3(AP4B1):c.618-13G>C
|
rs3789613
|
0.31448
|
NM_004722.4(AP4M1):c.1025+44T>C
|
rs2293479
|
0.26357
|
NM_007347.5(AP4E1):c.1066+51T>C
|
rs2291107
|
0.20641
|
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=)
|
rs3825798
|
0.19899
|
NM_007347.5(AP4E1):c.150+33A>G
|
rs76674534
|
0.16669
|
NM_001253852.3(AP4B1):c.576C>T (p.Gly192=)
|
rs17464525
|
0.16017
|
NM_022836.4(DCLRE1B):c.181C>T (p.His61Tyr)
|
rs11552449
|
0.15327
|
NM_004722.4(AP4M1):c.812G>A (p.Arg271His)
|
rs41280968
|
0.07094
|
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=)
|
rs34751342
|
0.03013
|
NM_004722.4(AP4M1):c.255-16C>T
|
rs74961284
|
0.01949
|
NM_004722.4(AP4M1):c.1305C>T (p.Asn435=)
|
rs4134932
|
0.01854
|
NM_007347.5(AP4E1):c.2905-8A>G
|
rs56813592
|
0.01851
|
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=)
|
rs114201291
|
0.01466
|
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys)
|
rs58909326
|
0.01464
|
NM_007347.5(AP4E1):c.2429C>T (p.Thr810Ile)
|
rs75130619
|
0.01213
|
NM_004722.4(AP4M1):c.58+12C>T
|
rs189367118
|
0.00997
|
NM_007347.5(AP4E1):c.542+11T>G
|
rs58882998
|
0.00762
|
NM_004722.4(AP4M1):c.228C>T (p.Pro76=)
|
rs41280965
|
0.00663
|
NM_004722.4(AP4M1):c.1002C>T (p.Leu334=)
|
rs140843407
|
0.00656
|
NM_001253852.3(AP4B1):c.1793-9C>G
|
rs17031980
|
0.00589
|
NM_007347.5(AP4E1):c.171G>A (p.Gln57=)
|
rs28463775
|
0.00543
|
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=)
|
rs34249695
|
0.00525
|
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val)
|
rs115188375
|
0.00503
|
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser)
|
rs116796602
|
0.00488
|
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val)
|
rs145182838
|
0.00445
|
NM_004722.4(AP4M1):c.1344C>T (p.Ala448=)
|
rs57403878
|
0.00425
|
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)
|
rs114734921
|
0.00406
|
NM_007347.5(AP4E1):c.1177-9T>C
|
rs145851652
|
0.00333
|
NM_007347.5(AP4E1):c.2346+10C>T
|
rs112190952
|
0.00228
|
NM_004722.4(AP4M1):c.525G>A (p.Leu175=)
|
rs113020957
|
0.00178
|
NM_004722.4(AP4M1):c.861C>T (p.Ser287=)
|
rs142325884
|
0.00168
|
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)
|
rs141417436
|
0.00163
|
NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile)
|
rs143286419
|
0.00130
|
NM_001253852.3(AP4B1):c.898G>T (p.Val300Leu)
|
rs111785152
|
0.00118
|
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg)
|
rs147135554
|
0.00095
|
NM_004722.4(AP4M1):c.59-14C>G
|
rs202164434
|
0.00086
|
NM_004722.4(AP4M1):c.975-16C>G
|
rs202052188
|
0.00082
|
NM_004722.4(AP4M1):c.740G>C (p.Gly247Ala)
|
rs145887263
|
0.00075
|
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)
|
rs138437966
|
0.00066
|
NM_001253852.3(AP4B1):c.339-15G>A
|
rs529490243
|
0.00056
|
NM_001253852.3(AP4B1):c.217T>A (p.Cys73Ser)
|
rs552888524
|
0.00053
|
NM_001253852.3(AP4B1):c.69A>G (p.Gln23=)
|
rs117872964
|
0.00053
|
NM_004722.4(AP4M1):c.930G>A (p.Arg310=)
|
rs141754568
|
0.00053
|
NM_007347.5(AP4E1):c.613C>A (p.His205Asn)
|
rs148499164
|
0.00052
|
NM_001253852.3(AP4B1):c.151A>C (p.Met51Leu)
|
rs183034705
|
0.00051
|
NM_001253852.3(AP4B1):c.1725C>T (p.Ile575=)
|
rs34778731
|
0.00051
|
NM_001253852.3(AP4B1):c.570A>G (p.Glu190=)
|
rs139775124
|
0.00050
|
NM_001253852.3(AP4B1):c.967T>A (p.Ser323Thr)
|
rs149335605
|
0.00049
|
NM_004722.4(AP4M1):c.1079C>A (p.Ala360Asp)
|
rs145979929
|
0.00047
|
NM_004722.4(AP4M1):c.544-6T>G
|
rs372511561
|
0.00046
|
NM_004722.4(AP4M1):c.407C>T (p.Thr136Met)
|
rs138131967
|
0.00043
|
NM_004722.4(AP4M1):c.777G>A (p.Val259=)
|
rs144253083
|
0.00041
|
NM_001253852.3(AP4B1):c.803A>G (p.His268Arg)
|
rs201047107
|
0.00037
|
NM_001253852.3(AP4B1):c.912G>A (p.Leu304=)
|
rs146053295
|
0.00037
|
NM_001253852.3(AP4B1):c.389G>A (p.Arg130Gln)
|
rs147043117
|
0.00036
|
NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile)
|
rs142215198
|
0.00034
|
NM_001253852.3(AP4B1):c.2004C>T (p.Thr668=)
|
rs143354033
|
0.00031
|
NM_004722.4(AP4M1):c.960C>T (p.Asp320=)
|
rs371162812
|
0.00029
|
NM_001253852.3(AP4B1):c.1244G>A (p.Cys415Tyr)
|
rs200590674
|
0.00028
|
NM_004722.4(AP4M1):c.561T>G (p.Val187=)
|
rs775529957
|
0.00026
|
NM_001253852.3(AP4B1):c.1843T>G (p.Ser615Ala)
|
rs148748734
|
0.00023
|
NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr)
|
rs147738731
|
0.00023
|
NM_004722.4(AP4M1):c.380C>T (p.Thr127Met)
|
rs147261925
|
0.00023
|
NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln)
|
rs139861201
|
0.00021
|
NM_004722.4(AP4M1):c.137C>T (p.Pro46Leu)
|
rs141331558
|
0.00021
|
NM_001253852.3(AP4B1):c.968C>T (p.Ser323Leu)
|
rs142732858
|
0.00020
|
NM_004722.4(AP4M1):c.295G>A (p.Glu99Lys)
|
rs200347699
|
0.00020
|
NM_004722.4(AP4M1):c.1245G>A (p.Thr415=)
|
rs142429364
|
0.00016
|
NM_001253852.3(AP4B1):c.373A>G (p.Ile125Val)
|
rs143769705
|
0.00014
|
NM_004722.4(AP4M1):c.630G>A (p.Val210=)
|
rs537780447
|
0.00014
|
NM_004722.4(AP4M1):c.975-14C>T
|
rs370610939
|
0.00014
|
NM_001253852.3(AP4B1):c.1042G>A (p.Val348Met)
|
rs150622512
|
0.00011
|
NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=)
|
rs187436884
|
0.00011
|
NM_001253852.3(AP4B1):c.1148T>C (p.Val383Ala)
|
rs757927686
|
0.00010
|
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
NM_001128126.3(AP4S1):c.83G>A (p.Arg28His)
|
rs201972703
|
0.00009
|
NM_001253852.3(AP4B1):c.1497G>T (p.Leu499Phe)
|
rs147573619
|
0.00009
|
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile)
|
rs376478015
|
0.00009
|
NM_004722.4(AP4M1):c.1128C>T (p.Gly376=)
|
rs372787797
|
0.00009
|
NM_004722.4(AP4M1):c.1293C>T (p.Cys431=)
|
rs151301464
|
0.00009
|
NM_001253852.3(AP4B1):c.1865C>T (p.Pro622Leu)
|
rs767679115
|
0.00008
|
NM_001253852.3(AP4B1):c.1868A>G (p.Asn623Ser)
|
rs201876159
|
0.00008
|
NM_001253852.3(AP4B1):c.2200A>G (p.Ile734Val)
|
rs79050956
|
0.00008
|
NM_004722.4(AP4M1):c.1341C>T (p.Asp447=)
|
rs551239733
|
0.00008
|
NM_004722.4(AP4M1):c.243A>G (p.Glu81=)
|
rs200156998
|
0.00008
|
NM_004722.4(AP4M1):c.771C>T (p.Ser257=)
|
rs545459309
|
0.00008
|
NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala)
|
rs542768500
|
0.00008
|
NM_001253852.3(AP4B1):c.647C>A (p.Ala216Asp)
|
rs752781534
|
0.00007
|
NM_004722.4(AP4M1):c.514C>T (p.Arg172Cys)
|
rs141174349
|
0.00007
|
NM_001253852.3(AP4B1):c.1302+11A>G
|
rs772397695
|
0.00006
|
NM_001253852.3(AP4B1):c.1591C>T (p.Arg531Trp)
|
rs745939325
|
0.00006
|
NM_001253852.3(AP4B1):c.617+17A>G
|
rs201080805
|
0.00006
|
NM_001253852.3(AP4B1):c.909C>A (p.Ile303=)
|
rs147184856
|
0.00006
|
NM_004722.4(AP4M1):c.1050A>G (p.Pro350=)
|
rs139116680
|
0.00006
|
NM_004722.4(AP4M1):c.1357A>G (p.Ile453Val)
|
rs777592786
|
0.00006
|
NM_004722.4(AP4M1):c.847C>T (p.Arg283Trp)
|
rs575096086
|
0.00006
|
NM_004722.4(AP4M1):c.84T>C (p.Asp28=)
|
rs777732581
|
0.00006
|
NM_001253852.3(AP4B1):c.13G>A (p.Gly5Ser)
|
rs370101262
|
0.00005
|
NM_001253852.3(AP4B1):c.232C>T (p.Leu78=)
|
rs760117027
|
0.00005
|
NM_001253852.3(AP4B1):c.358T>A (p.Tyr120Asn)
|
rs138880168
|
0.00005
|
NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile)
|
rs574878636
|
0.00005
|
NM_004722.4(AP4M1):c.93G>A (p.Glu31=)
|
rs202143875
|
0.00005
|
NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser)
|
rs150743968
|
0.00005
|
NM_001253852.3(AP4B1):c.1071G>A (p.Thr357=)
|
rs373289645
|
0.00004
|
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter)
|
rs374894037
|
0.00004
|
NM_001253852.3(AP4B1):c.1178G>A (p.Arg393Gln)
|
rs753638648
|
0.00004
|
NM_001253852.3(AP4B1):c.1303-11T>C
|
rs368931895
|
0.00004
|
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)
|
rs529495094
|
0.00004
|
NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys)
|
rs200276550
|
0.00004
|
NM_001253852.3(AP4B1):c.1559G>A (p.Arg520His)
|
rs763842373
|
0.00004
|
NM_001253852.3(AP4B1):c.172G>C (p.Ala58Pro)
|
rs754770476
|
0.00004
|
NM_001253852.3(AP4B1):c.1748G>A (p.Arg583His)
|
rs530540257
|
0.00004
|
NM_001253852.3(AP4B1):c.1859T>C (p.Leu620Pro)
|
rs569988158
|
0.00004
|
NM_001253852.3(AP4B1):c.1870C>T (p.Arg624Cys)
|
rs368828060
|
0.00004
|
NM_001253852.3(AP4B1):c.2151G>A (p.Thr717=)
|
rs145170032
|
0.00004
|
NM_001253852.3(AP4B1):c.247G>C (p.Ala83Pro)
|
rs149478319
|
0.00004
|
NM_001253852.3(AP4B1):c.267G>A (p.Thr89=)
|
rs779754710
|
0.00004
|
NM_001253852.3(AP4B1):c.470-20A>G
|
rs577971063
|
0.00004
|
NM_001253852.3(AP4B1):c.682C>T (p.Arg228Cys)
|
rs371514044
|
0.00004
|
NM_001253852.3(AP4B1):c.891T>C (p.Leu297=)
|
rs377589103
|
0.00004
|
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter)
|
rs146262009
|
0.00004
|
NM_004722.4(AP4M1):c.1060G>C (p.Ala354Pro)
|
rs201015648
|
0.00004
|
NM_004722.4(AP4M1):c.163C>T (p.His55Tyr)
|
rs578114705
|
0.00004
|
NM_004722.4(AP4M1):c.289C>T (p.Leu97=)
|
rs376025594
|
0.00004
|
NM_004722.4(AP4M1):c.679C>T (p.Arg227Cys)
|
rs369201294
|
0.00004
|
NM_004722.4(AP4M1):c.786C>T (p.Asp262=)
|
rs750687666
|
0.00004
|
NM_004722.4(AP4M1):c.92A>T (p.Glu31Val)
|
rs140286559
|
0.00004
|
NM_004722.4(AP4M1):c.981C>T (p.Ala327=)
|
rs563402705
|
0.00004
|
NM_001253852.3(AP4B1):c.1044G>A (p.Val348=)
|
rs763730264
|
0.00003
|
NM_001253852.3(AP4B1):c.1082C>T (p.Ala361Val)
|
rs143389123
|
0.00003
|
NM_001253852.3(AP4B1):c.114-9G>A
|
rs186195199
|
0.00003
|
NM_001253852.3(AP4B1):c.1217G>A (p.Arg406Gln)
|
rs145803736
|
0.00003
|
NM_001253852.3(AP4B1):c.1507A>G (p.Ile503Val)
|
rs1230787334
|
0.00003
|
NM_001253852.3(AP4B1):c.1643C>T (p.Pro548Leu)
|
rs149723440
|
0.00003
|
NM_001253852.3(AP4B1):c.175A>G (p.Thr59Ala)
|
rs151293980
|
0.00003
|
NM_001253852.3(AP4B1):c.2150C>T (p.Thr717Met)
|
rs199879996
|
0.00003
|
NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter)
|
rs777248758
|
0.00003
|
NM_001253852.3(AP4B1):c.319C>T (p.Arg107Trp)
|
rs74361335
|
0.00003
|
NM_001253852.3(AP4B1):c.323G>A (p.Ser108Asn)
|
rs1157647320
|
0.00003
|
NM_001253852.3(AP4B1):c.388C>T (p.Arg130Trp)
|
rs550100552
|
0.00003
|
NM_001253852.3(AP4B1):c.49C>T (p.Leu17=)
|
rs748774784
|
0.00003
|
NM_001253852.3(AP4B1):c.787G>A (p.Ala263Thr)
|
rs760880631
|
0.00003
|
NM_004722.4(AP4M1):c.1294G>A (p.Gly432Ser)
|
rs751435731
|
0.00003
|
NM_004722.4(AP4M1):c.12A>G (p.Gln4=)
|
rs568292146
|
0.00003
|
NM_004722.4(AP4M1):c.1320dup (p.Arg441fs)
|
rs1437455190
|
0.00003
|
NM_004722.4(AP4M1):c.136C>G (p.Pro46Ala)
|
rs757747386
|
0.00003
|
NM_004722.4(AP4M1):c.351+9C>G
|
rs745857202
|
0.00003
|
NM_004722.4(AP4M1):c.453C>T (p.Ser151=)
|
rs1388187930
|
0.00003
|
NM_004722.4(AP4M1):c.496C>T (p.Pro166Ser)
|
rs201290190
|
0.00003
|
NM_004722.4(AP4M1):c.607-12C>T
|
rs1375819668
|
0.00003
|
NM_004722.4(AP4M1):c.637G>C (p.Glu213Gln)
|
rs373833370
|
0.00003
|
NM_004722.4(AP4M1):c.673+7C>T
|
rs753446678
|
0.00003
|
NM_004722.4(AP4M1):c.889C>T (p.Arg297Trp)
|
rs199982051
|
0.00003
|
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter)
|
rs369459721
|
0.00003
|
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.1356T>C (p.Asn452=)
|
rs144215222
|
0.00002
|
NM_001253852.3(AP4B1):c.1460G>A (p.Arg487Gln)
|
rs375080258
|
0.00002
|
NM_001253852.3(AP4B1):c.1489C>T (p.Arg497Cys)
|
rs756404463
|
0.00002
|
NM_001253852.3(AP4B1):c.1535G>A (p.Arg512Gln)
|
rs754458814
|
0.00002
|
NM_001253852.3(AP4B1):c.159G>A (p.Met53Ile)
|
rs778624334
|
0.00002
|
NM_001253852.3(AP4B1):c.1642C>A (p.Pro548Thr)
|
rs866175993
|
0.00002
|
NM_001253852.3(AP4B1):c.1679T>G (p.Phe560Cys)
|
rs780654750
|
0.00002
|
NM_001253852.3(AP4B1):c.1687C>T (p.Leu563=)
|
rs752469657
|
0.00002
|
NM_001253852.3(AP4B1):c.2007C>T (p.Ile669=)
|
rs146869083
|
0.00002
|
NM_001253852.3(AP4B1):c.2030G>A (p.Arg677Gln)
|
rs752940030
|
0.00002
|
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln)
|
rs149705131
|
0.00002
|
NM_001253852.3(AP4B1):c.670C>T (p.Arg224Cys)
|
rs138216814
|
0.00002
|
NM_001253852.3(AP4B1):c.894T>A (p.Cys298Ter)
|
rs746462207
|
0.00002
|
NM_004722.4(AP4M1):c.1026-20C>G
|
rs371922404
|
0.00002
|
NM_004722.4(AP4M1):c.1318G>C (p.Val440Leu)
|
rs775699151
|
0.00002
|
NM_004722.4(AP4M1):c.1346A>G (p.Tyr449Cys)
|
rs754456635
|
0.00002
|
NM_004722.4(AP4M1):c.364G>A (p.Val122Ile)
|
rs572732241
|
0.00002
|
NM_004722.4(AP4M1):c.390G>A (p.Leu130=)
|
rs753736268
|
0.00002
|
NM_004722.4(AP4M1):c.408G>A (p.Thr136=)
|
rs1267130075
|
0.00002
|
NM_004722.4(AP4M1):c.68A>G (p.Asp23Gly)
|
rs767849761
|
0.00002
|
NM_004722.4(AP4M1):c.693G>A (p.Thr231=)
|
rs758378130
|
0.00002
|
NM_004722.4(AP4M1):c.750C>T (p.Val250=)
|
rs752745814
|
0.00002
|
NM_004722.4(AP4M1):c.803G>A (p.Arg268Gln)
|
rs565296810
|
0.00002
|
NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln)
|
rs531148057
|
0.00002
|
NM_001128126.3(AP4S1):c.306+4281A>G
|
rs1228214819
|
0.00001
|
NM_001253852.3(AP4B1):c.1057C>T (p.Arg353Ter)
|
rs138335735
|
0.00001
|
NM_001253852.3(AP4B1):c.1111A>G (p.Ile371Val)
|
rs797045242
|
0.00001
|
NM_001253852.3(AP4B1):c.1114+9C>T
|
rs1478207935
|
0.00001
|
NM_001253852.3(AP4B1):c.1115-2A>G
|
rs1210851910
|
0.00001
|
NM_001253852.3(AP4B1):c.112A>G (p.Arg38Gly)
|
rs773391519
|
0.00001
|
NM_001253852.3(AP4B1):c.114-2A>G
|
rs879255396
|
0.00001
|
NM_001253852.3(AP4B1):c.1144T>C (p.Cys382Arg)
|
rs781635999
|
0.00001
|
NM_001253852.3(AP4B1):c.1215C>T (p.Phe405=)
|
rs759899315
|
0.00001
|
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)
|
rs776976178
|
0.00001
|
NM_001253852.3(AP4B1):c.1273G>A (p.Gly425Ser)
|
rs777033290
|
0.00001
|
NM_001253852.3(AP4B1):c.1284G>A (p.Glu428=)
|
rs752215351
|
0.00001
|
NM_001253852.3(AP4B1):c.1526T>C (p.Met509Thr)
|
rs1043676103
|
0.00001
|
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter)
|
rs767220480
|
0.00001
|
NM_001253852.3(AP4B1):c.1553A>G (p.Tyr518Cys)
|
rs1265334140
|
0.00001
|
NM_001253852.3(AP4B1):c.1697T>C (p.Val566Ala)
|
rs373733045
|
0.00001
|
NM_001253852.3(AP4B1):c.1744G>A (p.Glu582Lys)
|
rs779319072
|
0.00001
|
NM_001253852.3(AP4B1):c.1839T>G (p.Pro613=)
|
rs549517422
|
0.00001
|
NM_001253852.3(AP4B1):c.2066C>T (p.Thr689Ile)
|
rs768141876
|
0.00001
|
NM_001253852.3(AP4B1):c.211T>C (p.Tyr71His)
|
rs1186934233
|
0.00001
|
NM_001253852.3(AP4B1):c.2145A>T (p.Ala715=)
|
rs969793953
|
0.00001
|
NM_001253852.3(AP4B1):c.215T>C (p.Met72Thr)
|
rs566369623
|
0.00001
|
NM_001253852.3(AP4B1):c.222A>G (p.Thr74=)
|
rs1439180952
|
0.00001
|
NM_001253852.3(AP4B1):c.266C>T (p.Thr89Met)
|
rs1454940627
|
0.00001
|
NM_001253852.3(AP4B1):c.372T>C (p.Pro124=)
|
rs1668308067
|
0.00001
|
NM_001253852.3(AP4B1):c.506G>A (p.Arg169His)
|
rs144490934
|
0.00001
|
NM_001253852.3(AP4B1):c.52T>G (p.Cys18Gly)
|
rs777755720
|
0.00001
|
NM_001253852.3(AP4B1):c.56A>G (p.Asn19Ser)
|
rs758302124
|
0.00001
|
NM_001253852.3(AP4B1):c.594C>T (p.Pro198=)
|
rs766215887
|
0.00001
|
NM_001253852.3(AP4B1):c.616C>G (p.Arg206Gly)
|
rs762612591
|
0.00001
|
NM_001253852.3(AP4B1):c.617+16C>T
|
rs1046613270
|
0.00001
|
NM_001253852.3(AP4B1):c.618-16T>G
|
rs772575711
|
0.00001
|
NM_001253852.3(AP4B1):c.618-3T>C
|
rs755780191
|
0.00001
|
NM_001253852.3(AP4B1):c.671G>A (p.Arg224His)
|
rs968023503
|
0.00001
|
NM_001253852.3(AP4B1):c.749G>A (p.Gly250Asp)
|
rs778029639
|
0.00001
|
NM_001253852.3(AP4B1):c.804C>T (p.His268=)
|
rs762267301
|
0.00001
|
NM_001253852.3(AP4B1):c.91A>C (p.Asn31His)
|
rs753932633
|
0.00001
|
NM_001253852.3(AP4B1):c.924A>G (p.Pro308=)
|
rs1256078127
|
0.00001
|
NM_004722.4(AP4M1):c.1013G>A (p.Arg338Gln)
|
rs536356225
|
0.00001
|
NM_004722.4(AP4M1):c.1025+19C>G
|
rs756183556
|
0.00001
|
NM_004722.4(AP4M1):c.1044C>T (p.Ser348=)
|
rs746663793
|
0.00001
|
NM_004722.4(AP4M1):c.1074G>A (p.Glu358=)
|
rs529291627
|
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.1120C>T (p.Leu374Phe)
|
rs747834855
|
0.00001
|
NM_004722.4(AP4M1):c.1137+10G>C
|
rs776964578
|
0.00001
|
NM_004722.4(AP4M1):c.1137+1G>T
|
rs770705832
|
0.00001
|
NM_004722.4(AP4M1):c.1187C>T (p.Ser396Leu)
|
rs772203028
|
0.00001
|
NM_004722.4(AP4M1):c.1190C>T (p.Ala397Val)
|
rs573143488
|
0.00001
|
NM_004722.4(AP4M1):c.1228G>A (p.Glu410Lys)
|
rs751442561
|
0.00001
|
NM_004722.4(AP4M1):c.129C>A (p.Asp43Glu)
|
rs760835879
|
0.00001
|
NM_004722.4(AP4M1):c.1317G>A (p.Trp439Ter)
|
rs772119268
|
0.00001
|
NM_004722.4(AP4M1):c.1339G>A (p.Asp447Asn)
|
rs772970558
|
0.00001
|
NM_004722.4(AP4M1):c.1360T>C (p.Ter454Arg)
|
rs1200528735
|
0.00001
|
NM_004722.4(AP4M1):c.142del (p.Val48fs)
|
rs764326593
|
0.00001
|
NM_004722.4(AP4M1):c.155A>G (p.His52Arg)
|
rs969442891
|
0.00001
|
NM_004722.4(AP4M1):c.175A>G (p.Ile59Val)
|
rs748804549
|
0.00001
|
NM_004722.4(AP4M1):c.188G>C (p.Gly63Ala)
|
rs1362214871
|
0.00001
|
NM_004722.4(AP4M1):c.26C>T (p.Ser9Phe)
|
rs751068724
|
0.00001
|
NM_004722.4(AP4M1):c.273C>T (p.Gly91=)
|
rs778849366
|
0.00001
|
NM_004722.4(AP4M1):c.299G>T (p.Gly100Val)
|
rs772854398
|
0.00001
|
NM_004722.4(AP4M1):c.351+18C>T
|
rs748478430
|
0.00001
|
NM_004722.4(AP4M1):c.352-12C>T
|
rs1312514170
|
0.00001
|
NM_004722.4(AP4M1):c.3G>C (p.Met1Ile)
|
rs968876829
|
0.00001
|
NM_004722.4(AP4M1):c.458G>A (p.Gly153Asp)
|
rs797045250
|
0.00001
|
NM_004722.4(AP4M1):c.463-2A>T
|
rs750783717
|
0.00001
|
NM_004722.4(AP4M1):c.513C>G (p.Ser171Arg)
|
rs374978880
|
0.00001
|
NM_004722.4(AP4M1):c.515G>A (p.Arg172His)
|
rs746585330
|
0.00001
|
NM_004722.4(AP4M1):c.543+11G>C
|
rs200561621
|
0.00001
|
NM_004722.4(AP4M1):c.543+11_543+14dup
|
rs764092006
|
0.00001
|
NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys)
|
rs387906838
|
0.00001
|
NM_004722.4(AP4M1):c.606+20C>T
|
rs1796284845
|
0.00001
|
NM_004722.4(AP4M1):c.607-2A>G
|
rs755533568
|
0.00001
|
NM_004722.4(AP4M1):c.611C>T (p.Ser204Phe)
|
rs200722903
|
0.00001
|
NM_004722.4(AP4M1):c.643C>T (p.Arg215Trp)
|
rs146445385
|
0.00001
|
NM_004722.4(AP4M1):c.673+6G>A
|
rs201427711
|
0.00001
|
NM_004722.4(AP4M1):c.674-5G>A
|
rs576875998
|
0.00001
|
NM_004722.4(AP4M1):c.746G>A (p.Arg249Gln)
|
rs368830741
|
0.00001
|
NM_004722.4(AP4M1):c.802C>T (p.Arg268Ter)
|
rs780030221
|
0.00001
|
NM_004722.4(AP4M1):c.811C>T (p.Arg271Cys)
|
rs781616312
|
0.00001
|
NM_004722.4(AP4M1):c.860C>T (p.Ser287Phe)
|
rs774646136
|
0.00001
|
NM_004722.4(AP4M1):c.862G>C (p.Asp288His)
|
rs767611212
|
0.00001
|
NM_004722.4(AP4M1):c.867C>T (p.Asp289=)
|
rs756660680
|
0.00001
|
NM_004722.4(AP4M1):c.890G>A (p.Arg297Gln)
|
rs768778642
|
0.00001
|
NM_004722.4(AP4M1):c.90C>G (p.Ala30=)
|
rs1418445713
|
0.00001
|
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg)
|
rs754498075
|
0.00001
|
NM_004722.4(AP4M1):c.974+16G>A
|
rs777424471
|
0.00001
|
NM_004722.4(AP4M1):c.988G>C (p.Val330Leu)
|
rs1279854067
|
0.00001
|
NM_007347.5(AP4E1):c.2804G>A (p.Trp935Ter)
|
rs2064899680
|
0.00001
|
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=)
|
rs752693324
|
0.00001
|
GRCh38/hg38 15q21.2(chr15:50923067-50925830)x0
|
|
|
NC_000001.10:g.(?_112318699)_(115576848_?)del
|
|
|
NC_000001.11:g.(?_113895055)_(113900410_?)dup
|
|
|
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.138+63G>C
|
rs6571386
|
|
NM_001128126.3(AP4S1):c.139-65C>G
|
rs7155228
|
|
NM_001128126.3(AP4S1):c.152A>G (p.Glu51Gly)
|
|
|
NM_001128126.3(AP4S1):c.295-1G>A
|
rs2139098086
|
|
NM_001128126.3(AP4S1):c.365_366delinsAG (p.Cys122Ter)
|
|
|
NM_001128126.3(AP4S1):c.44G>A (p.Arg15Gln)
|
|
|
NM_001253852.3(AP4B1):c.-2_4delinsGCCA (p.Met1fs)
|
rs1558100393
|
|
NM_001253852.3(AP4B1):c.1023C>T (p.Asn341=)
|
|
|
NM_001253852.3(AP4B1):c.1030A>C (p.Asn344His)
|
|
|
NM_001253852.3(AP4B1):c.1066del (p.Cys356fs)
|
|
|
NM_001253852.3(AP4B1):c.1067G>T (p.Cys356Phe)
|
rs770948820
|
|
NM_001253852.3(AP4B1):c.1075G>A (p.Val359Met)
|
|
|
NM_001253852.3(AP4B1):c.1076T>G (p.Val359Gly)
|
rs1668009628
|
|
NM_001253852.3(AP4B1):c.1106_1114+8del
|
|
|
NM_001253852.3(AP4B1):c.1112_1113insGGAGC (p.Ile371fs)
|
|
|
NM_001253852.3(AP4B1):c.1114+14C>T
|
|
|
NM_001253852.3(AP4B1):c.1122_1123insTTGTAGGTGCCAGGACTTCTTTTGTAGGT (p.Ala375delinsLeuTer)
|
|
|
NM_001253852.3(AP4B1):c.113+10A>G
|
|
|
NM_001253852.3(AP4B1):c.113+10A>T
|
|
|
NM_001253852.3(AP4B1):c.113+13T>G
|
|
|
NM_001253852.3(AP4B1):c.113+20G>T
|
|
|
NM_001253852.3(AP4B1):c.113G>C (p.Arg38Thr)
|
|
|
NM_001253852.3(AP4B1):c.114-10C>T
|
rs200301524
|
|
NM_001253852.3(AP4B1):c.114-13G>T
|
|
|
NM_001253852.3(AP4B1):c.114-14T>C
|
|
|
NM_001253852.3(AP4B1):c.114-2A>C
|
rs879255396
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001253852.3(AP4B1):c.1163A>C (p.Glu388Ala)
|
rs1667823558
|
|
NM_001253852.3(AP4B1):c.1177C>A (p.Arg393=)
|
|
|
NM_001253852.3(AP4B1):c.1181A>C (p.Gln394Pro)
|
|
|
NM_001253852.3(AP4B1):c.1181_1182del (p.Gln394fs)
|
rs2101015147
|
|
NM_001253852.3(AP4B1):c.1198+5T>C
|
rs1276393155
|
|
NM_001253852.3(AP4B1):c.1198+7C>A
|
|
|
NM_001253852.3(AP4B1):c.1199-13G>A
|
|
|
NM_001253852.3(AP4B1):c.1199-18C>T
|
|
|
NM_001253852.3(AP4B1):c.1240C>T (p.Gln414Ter)
|
|
|
NM_001253852.3(AP4B1):c.1258T>C (p.Cys420Arg)
|
rs1227614224
|
|
NM_001253852.3(AP4B1):c.1272C>T (p.Pro424=)
|
rs759742089
|
|
NM_001253852.3(AP4B1):c.1294G>A (p.Asp432Asn)
|
rs1667689616
|
|
NM_001253852.3(AP4B1):c.1302+8G>A
|
rs2101008518
|
|
NM_001253852.3(AP4B1):c.1317dup (p.Ile440fs)
|
|
|
NM_001253852.3(AP4B1):c.1324_1331del (p.Leu442fs)
|
|
|
NM_001253852.3(AP4B1):c.1331G>A (p.Gly444Asp)
|
|
|
NM_001253852.3(AP4B1):c.1337A>G (p.His446Arg)
|
rs748049847
|
|
NM_001253852.3(AP4B1):c.1342G>A (p.Glu448Lys)
|
rs2100998541
|
|
NM_001253852.3(AP4B1):c.1357G>T (p.Ala453Ser)
|
rs2100998376
|
|
NM_001253852.3(AP4B1):c.1365T>A (p.Tyr455Ter)
|
rs114201291
|
|
NM_001253852.3(AP4B1):c.1444C>T (p.Arg482Cys)
|
|
|
NM_001253852.3(AP4B1):c.1459C>A (p.Arg487=)
|
|
|
NM_001253852.3(AP4B1):c.1459C>T (p.Arg487Ter)
|
rs771888480
|
|
NM_001253852.3(AP4B1):c.1463C>A (p.Pro488His)
|
|
|
NM_001253852.3(AP4B1):c.1466C>G (p.Ala489Gly)
|
rs1667457042
|
|
NM_001253852.3(AP4B1):c.1474C>G (p.Gln492Glu)
|
rs1054252163
|
|
NM_001253852.3(AP4B1):c.1490_1503del (p.Arg497fs)
|
rs1553257236
|
|
NM_001253852.3(AP4B1):c.1494G>C (p.Leu498Phe)
|
rs1440975141
|
|
NM_001253852.3(AP4B1):c.1499A>G (p.Tyr500Cys)
|
rs1667452008
|
|
NM_001253852.3(AP4B1):c.1510+12A>G
|
|
|
NM_001253852.3(AP4B1):c.1510+2T>C
|
rs1667449135
|
|
NM_001253852.3(AP4B1):c.1511-19A>G
|
|
|
NM_001253852.3(AP4B1):c.1544del (p.Gly515fs)
|
rs1667419336
|
|
NM_001253852.3(AP4B1):c.1560C>T (p.Arg520=)
|
|
|
NM_001253852.3(AP4B1):c.1576A>G (p.Ile526Val)
|
|
|
NM_001253852.3(AP4B1):c.1585G>A (p.Val529Ile)
|
|
|
NM_001253852.3(AP4B1):c.1588A>G (p.Lys530Glu)
|
|
|
NM_001253852.3(AP4B1):c.1596T>C (p.Ile532=)
|
rs2100995308
|
|
NM_001253852.3(AP4B1):c.1608T>A (p.Pro536=)
|
rs1558079074
|
|
NM_001253852.3(AP4B1):c.1612del (p.Ser538fs)
|
|
|
NM_001253852.3(AP4B1):c.1633T>C (p.Leu545=)
|
rs2100995025
|
|
NM_001253852.3(AP4B1):c.1644G>A (p.Pro548=)
|
|
|
NM_001253852.3(AP4B1):c.1660A>T (p.Asn554Tyr)
|
rs2100994814
|
|
NM_001253852.3(AP4B1):c.1696G>C (p.Val566Leu)
|
rs2100994599
|
|
NM_001253852.3(AP4B1):c.1703G>A (p.Gly568Asp)
|
rs759495705
|
|
NM_001253852.3(AP4B1):c.1708G>A (p.Ala570Thr)
|
|
|
NM_001253852.3(AP4B1):c.1724T>G (p.Ile575Ser)
|
|
|
NM_001253852.3(AP4B1):c.1739G>T (p.Gly580Val)
|
rs762174414
|
|
NM_001253852.3(AP4B1):c.1747C>T (p.Arg583Cys)
|
|
|
NM_001253852.3(AP4B1):c.176C>G (p.Thr59Ser)
|
|
|
NM_001253852.3(AP4B1):c.1786G>A (p.Ala596Thr)
|
|
|
NM_001253852.3(AP4B1):c.1792+11T>C
|
|
|
NM_001253852.3(AP4B1):c.1792+8C>T
|
|
|
NM_001253852.3(AP4B1):c.1819G>C (p.Glu607Gln)
|
rs1166699876
|
|
NM_001253852.3(AP4B1):c.1821G>A (p.Glu607=)
|
|
|
NM_001253852.3(AP4B1):c.182A>T (p.Asp61Val)
|
|
|
NM_001253852.3(AP4B1):c.183T>C (p.Asp61=)
|
|
|
NM_001253852.3(AP4B1):c.1863C>G (p.Val621=)
|
|
|
NM_001253852.3(AP4B1):c.1870C>G (p.Arg624Gly)
|
rs368828060
|
|
NM_001253852.3(AP4B1):c.1899A>G (p.Lys633=)
|
|
|
NM_001253852.3(AP4B1):c.1901C>G (p.Thr634Ser)
|
|
|
NM_001253852.3(AP4B1):c.1919T>G (p.Val640Gly)
|
|
|
NM_001253852.3(AP4B1):c.1922C>T (p.Ala641Val)
|
rs1667332064
|
|
NM_001253852.3(AP4B1):c.1926T>C (p.His642=)
|
rs1480000484
|
|
NM_001253852.3(AP4B1):c.1931A>G (p.Gln644Arg)
|
rs1667330271
|
|
NM_001253852.3(AP4B1):c.1939C>G (p.Pro647Ala)
|
|
|
NM_001253852.3(AP4B1):c.1962T>C (p.Pro654=)
|
rs1667327766
|
|
NM_001253852.3(AP4B1):c.1981C>A (p.Leu661Ile)
|
rs1667326839
|
|
NM_001253852.3(AP4B1):c.198G>C (p.Lys66Asn)
|
rs374241047
|
|
NM_001253852.3(AP4B1):c.199T>C (p.Leu67=)
|
|
|
NM_001253852.3(AP4B1):c.2020G>T (p.Ala674Ser)
|
rs769479430
|
|
NM_001253852.3(AP4B1):c.202G>A (p.Val68Ile)
|
|
|
NM_001253852.3(AP4B1):c.2040A>G (p.Lys680=)
|
|
|
NM_001253852.3(AP4B1):c.207T>C (p.Tyr69=)
|
|
|
NM_001253852.3(AP4B1):c.2082A>T (p.Leu694Phe)
|
rs1553256829
|
|
NM_001253852.3(AP4B1):c.2083A>C (p.Thr695Pro)
|
|
|
NM_001253852.3(AP4B1):c.2099A>T (p.Glu700Val)
|
rs768308955
|
|
NM_001253852.3(AP4B1):c.2123_2133del (p.Ile708fs)
|
|
|
NM_001253852.3(AP4B1):c.2131A>C (p.Lys711Gln)
|
|
|
NM_001253852.3(AP4B1):c.2162A>G (p.Asn721Ser)
|
|
|
NM_001253852.3(AP4B1):c.2179T>C (p.Leu727=)
|
|
|
NM_001253852.3(AP4B1):c.219C>A (p.Cys73Ter)
|
rs2101044378
|
|
NM_001253852.3(AP4B1):c.2211A>G (p.Ile737Met)
|
|
|
NM_001253852.3(AP4B1):c.229C>T (p.Pro77Ser)
|
|
|
NM_001253852.3(AP4B1):c.298A>G (p.Met100Val)
|
rs752682155
|
|
NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs)
|
rs797045244
|
|
NM_001253852.3(AP4B1):c.313del (p.Ala105fs)
|
rs587783179
|
|
NM_001253852.3(AP4B1):c.320G>A (p.Arg107Gln)
|
|
|
NM_001253852.3(AP4B1):c.323G>T (p.Ser108Ile)
|
|
|
NM_001253852.3(AP4B1):c.336C>T (p.Leu112=)
|
rs1461336598
|
|
NM_001253852.3(AP4B1):c.337A>G (p.Arg113Gly)
|
rs1668423302
|
|
NM_001253852.3(AP4B1):c.338+19G>C
|
rs2101043152
|
|
NM_001253852.3(AP4B1):c.338+20_338+23del
|
rs537405509
|
|
NM_001253852.3(AP4B1):c.338+5G>A
|
rs1019204290
|
|
NM_001253852.3(AP4B1):c.339-16A>C
|
rs766923052
|
|
NM_001253852.3(AP4B1):c.339-7T>C
|
|
|
NM_001253852.3(AP4B1):c.352C>T (p.Gln118Ter)
|
rs1013939776
|
|
NM_001253852.3(AP4B1):c.37C>A (p.Leu13Met)
|
|
|
NM_001253852.3(AP4B1):c.388_389dup (p.Asp131fs)
|
|
|
NM_001253852.3(AP4B1):c.3G>C (p.Met1Ile)
|
rs2101057747
|
|
NM_001253852.3(AP4B1):c.402A>T (p.Ser134=)
|
rs34751342
|
|
NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer)
|
rs1553259463
|
|
NM_001253852.3(AP4B1):c.412A>G (p.Arg138Gly)
|
rs943287870
|
|
NM_001253852.3(AP4B1):c.41A>G (p.Lys14Arg)
|
|
|
NM_001253852.3(AP4B1):c.426T>C (p.Leu142=)
|
|
|
NM_001253852.3(AP4B1):c.444dup (p.Asn149Ter)
|
|
|
NM_001253852.3(AP4B1):c.445A>T (p.Asn149Tyr)
|
|
|
NM_001253852.3(AP4B1):c.456A>C (p.Gly152=)
|
|
|
NM_001253852.3(AP4B1):c.469+17C>A
|
|
|
NM_001253852.3(AP4B1):c.470-14G>A
|
|
|
NM_001253852.3(AP4B1):c.470-6T>G
|
|
|
NM_001253852.3(AP4B1):c.480G>C (p.Leu160=)
|
|
|
NM_001253852.3(AP4B1):c.487_488insTAT (p.Glu163delinsValTer)
|
rs2101035173
|
|
NM_001253852.3(AP4B1):c.505C>A (p.Arg169Ser)
|
rs753402898
|
|
NM_001253852.3(AP4B1):c.512A>G (p.Gln171Arg)
|
|
|
NM_001253852.3(AP4B1):c.521T>C (p.Ile174Thr)
|
|
|
NM_001253852.3(AP4B1):c.529_531del (p.Val177del)
|
|
|
NM_001253852.3(AP4B1):c.52_53del (p.Cys18fs)
|
|
|
NM_001253852.3(AP4B1):c.559C>A (p.Leu187Met)
|
|
|
NM_001253852.3(AP4B1):c.576_577delinsTA (p.Val193Ile)
|
rs1553259191
|
|
NM_001253852.3(AP4B1):c.579_581del (p.Val194del)
|
rs750563520
|
|
NM_001253852.3(AP4B1):c.587A>G (p.Asn196Ser)
|
rs1571569612
|
|
NM_001253852.3(AP4B1):c.602A>G (p.His201Arg)
|
|
|
NM_001253852.3(AP4B1):c.612A>G (p.Leu204=)
|
|
|
NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter)
|
rs762612591
|
|
NM_001253852.3(AP4B1):c.617+8T>C
|
rs2101034096
|
|
NM_001253852.3(AP4B1):c.618-12T>C
|
|
|
NM_001253852.3(AP4B1):c.639G>T (p.Trp213Cys)
|
|
|
NM_001253852.3(AP4B1):c.654A>G (p.Val218=)
|
|
|
NM_001253852.3(AP4B1):c.664del (p.Leu222fs)
|
rs1571563769
|
|
NM_001253852.3(AP4B1):c.678A>C (p.Gln226His)
|
|
|
NM_001253852.3(AP4B1):c.67C>A (p.Gln23Lys)
|
rs752491831
|
|
NM_001253852.3(AP4B1):c.778C>A (p.Leu260Met)
|
|
|
NM_001253852.3(AP4B1):c.783C>A (p.Ile261=)
|
rs1352725563
|
|
NM_001253852.3(AP4B1):c.810A>G (p.Gln270=)
|
|
|
NM_001253852.3(AP4B1):c.820C>T (p.Leu274Phe)
|
|
|
NM_001253852.3(AP4B1):c.876_877del (p.Cys293fs)
|
|
|
NM_001253852.3(AP4B1):c.87C>T (p.Tyr29=)
|
|
|
NM_001253852.3(AP4B1):c.880T>C (p.Phe294Leu)
|
rs541013298
|
|
NM_001253852.3(AP4B1):c.901C>T (p.Arg301Cys)
|
|
|
NM_001253852.3(AP4B1):c.902G>A (p.Arg301His)
|
|
|
NM_001253852.3(AP4B1):c.926del (p.Gly309fs)
|
rs2101025777
|
|
NM_001253852.3(AP4B1):c.939C>T (p.Ser313=)
|
|
|
NM_001253852.3(AP4B1):c.952T>C (p.Phe318Leu)
|
|
|
NM_001253852.3(AP4B1):c.962C>T (p.Ser321Phe)
|
rs1280737712
|
|
NM_001253852.3(AP4B1):c.967del (p.Ser323fs)
|
rs745580319
|
|
NM_001253852.3(AP4B1):c.985A>T (p.Lys329Ter)
|
rs2101024933
|
|
NM_004722.4(AP4M1):c.1002C>G (p.Leu334=)
|
rs140843407
|
|
NM_004722.4(AP4M1):c.1012del (p.Arg338fs)
|
rs2116668499
|
|
NM_004722.4(AP4M1):c.1015G>A (p.Gly339Arg)
|
|
|
NM_004722.4(AP4M1):c.1025+18C>G
|
|
|
NM_004722.4(AP4M1):c.1025+20A>G
|
|
|
NM_004722.4(AP4M1):c.1025+6T>G
|
|
|
NM_004722.4(AP4M1):c.1026-10C>G
|
rs746394766
|
|
NM_004722.4(AP4M1):c.1047C>T (p.Ser349=)
|
|
|
NM_004722.4(AP4M1):c.1058A>G (p.Lys353Arg)
|
|
|
NM_004722.4(AP4M1):c.1075G>A (p.Gly359Arg)
|
|
|
NM_004722.4(AP4M1):c.1084C>T (p.Arg362Cys)
|
|
|
NM_004722.4(AP4M1):c.1085G>A (p.Arg362His)
|
|
|
NM_004722.4(AP4M1):c.1099C>T (p.Arg367Trp)
|
|
|
NM_004722.4(AP4M1):c.1137+16C>T
|
rs1035762525
|
|
NM_004722.4(AP4M1):c.1137+6C>T
|
|
|
NM_004722.4(AP4M1):c.1138-17G>T
|
|
|
NM_004722.4(AP4M1):c.1138-1G>A
|
|
|
NM_004722.4(AP4M1):c.1138-8C>G
|
rs773499417
|
|
NM_004722.4(AP4M1):c.113C>T (p.Thr38Met)
|
|
|
NM_004722.4(AP4M1):c.1143C>T (p.Asp381=)
|
|
|
NM_004722.4(AP4M1):c.1160G>A (p.Gly387Glu)
|
|
|
NM_004722.4(AP4M1):c.1167C>T (p.Pro389=)
|
|
|
NM_004722.4(AP4M1):c.1174G>T (p.Gly392Trp)
|
|
|
NM_004722.4(AP4M1):c.1176G>A (p.Gly392=)
|
|
|
NM_004722.4(AP4M1):c.1183_1196del (p.Thr395fs)
|
|
|
NM_004722.4(AP4M1):c.1188G>A (p.Ser396=)
|
|
|
NM_004722.4(AP4M1):c.1195C>T (p.Pro399Ser)
|
rs773269627
|
|
NM_004722.4(AP4M1):c.1203G>A (p.Gly401=)
|
|
|
NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu)
|
rs760907496
|
|
NM_004722.4(AP4M1):c.1226T>C (p.Phe409Ser)
|
|
|
NM_004722.4(AP4M1):c.1227C>T (p.Phe409=)
|
|
|
NM_004722.4(AP4M1):c.1237C>G (p.Arg413Gly)
|
rs778562405
|
|
NM_004722.4(AP4M1):c.1237C>T (p.Arg413Trp)
|
|
|
NM_004722.4(AP4M1):c.1238G>A (p.Arg413Gln)
|
rs757999633
|
|
NM_004722.4(AP4M1):c.1238G>T (p.Arg413Leu)
|
rs757999633
|
|
NM_004722.4(AP4M1):c.1242C>A (p.His414Gln)
|
|
|
NM_004722.4(AP4M1):c.1259A>T (p.Gln420Leu)
|
|
|
NM_004722.4(AP4M1):c.1265G>A (p.Arg422Gln)
|
rs150135687
|
|
NM_004722.4(AP4M1):c.1284C>A (p.Phe428Leu)
|
rs1443950530
|
|
NM_004722.4(AP4M1):c.1287G>A (p.Arg429=)
|
|
|
NM_004722.4(AP4M1):c.12A>T (p.Gln4His)
|
|
|
NM_004722.4(AP4M1):c.1308C>T (p.Pro436=)
|
|
|
NM_004722.4(AP4M1):c.1311C>G (p.His437Gln)
|
|
|
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)
|
rs886041126
|
|
NM_004722.4(AP4M1):c.1322G>A (p.Arg441Gln)
|
|
|
NM_004722.4(AP4M1):c.1336A>G (p.Ser446Gly)
|
|
|
NM_004722.4(AP4M1):c.1338C>T (p.Ser446=)
|
|
|
NM_004722.4(AP4M1):c.1350C>T (p.Val450=)
|
|
|
NM_004722.4(AP4M1):c.1354C>T (p.Arg452Trp)
|
|
|
NM_004722.4(AP4M1):c.1355G>A (p.Arg452Gln)
|
|
|
NM_004722.4(AP4M1):c.147+10G>A
|
rs1584505112
|
|
NM_004722.4(AP4M1):c.147+12C>T
|
|
|
NM_004722.4(AP4M1):c.148-10T>C
|
|
|
NM_004722.4(AP4M1):c.148-11C>T
|
|
|
NM_004722.4(AP4M1):c.148-18T>C
|
|
|
NM_004722.4(AP4M1):c.161G>A (p.Arg54His)
|
|
|
NM_004722.4(AP4M1):c.169A>G (p.Ile57Val)
|
|
|
NM_004722.4(AP4M1):c.173A>G (p.His58Arg)
|
|
|
NM_004722.4(AP4M1):c.192C>G (p.Leu64=)
|
|
|
NM_004722.4(AP4M1):c.203del (p.Val68fs)
|
rs1584507780
|
|
NM_004722.4(AP4M1):c.218dup (p.Asn73fs)
|
rs1321353475
|
|
NM_004722.4(AP4M1):c.219C>T (p.Asn73=)
|
|
|
NM_004722.4(AP4M1):c.220G>A (p.Val74Ile)
|
rs377178447
|
|
NM_004722.4(AP4M1):c.226C>T (p.Pro76Ser)
|
rs1796159168
|
|
NM_004722.4(AP4M1):c.238C>T (p.Leu80=)
|
|
|
NM_004722.4(AP4M1):c.244C>G (p.Leu82Val)
|
|
|
NM_004722.4(AP4M1):c.254+14G>A
|
|
|
NM_004722.4(AP4M1):c.254+15del
|
|
|
NM_004722.4(AP4M1):c.254+20G>A
|
|
|
NM_004722.4(AP4M1):c.255-10G>A
|
|
|
NM_004722.4(AP4M1):c.255-12G>A
|
|
|
NM_004722.4(AP4M1):c.255-12G>C
|
|
|
NM_004722.4(AP4M1):c.289C>G (p.Leu97Val)
|
|
|
NM_004722.4(AP4M1):c.294C>T (p.Gly98=)
|
|
|
NM_004722.4(AP4M1):c.30C>T (p.Ser10=)
|
rs539589967
|
|
NM_004722.4(AP4M1):c.310C>T (p.Arg104Cys)
|
|
|
NM_004722.4(AP4M1):c.32del (p.Lys11fs)
|
rs797045249
|
|
NM_004722.4(AP4M1):c.331G>A (p.Glu111Lys)
|
|
|
NM_004722.4(AP4M1):c.331G>C (p.Glu111Gln)
|
|
|
NM_004722.4(AP4M1):c.336_338del (p.Leu113del)
|
rs2116630200
|
|
NM_004722.4(AP4M1):c.342T>G (p.Asp114Glu)
|
|
|
NM_004722.4(AP4M1):c.351+17C>T
|
|
|
NM_004722.4(AP4M1):c.351+19C>T
|
|
|
NM_004722.4(AP4M1):c.351+19del
|
|
|
NM_004722.4(AP4M1):c.352-18_352-17dup
|
|
|
NM_004722.4(AP4M1):c.360C>T (p.Gly120=)
|
rs778147767
|
|
NM_004722.4(AP4M1):c.362A>G (p.Tyr121Cys)
|
|
|
NM_004722.4(AP4M1):c.376T>C (p.Ser126Pro)
|
rs2116635737
|
|
NM_004722.4(AP4M1):c.381G>A (p.Thr127=)
|
|
|
NM_004722.4(AP4M1):c.403C>T (p.Gln135Ter)
|
|
|
NM_004722.4(AP4M1):c.452G>A (p.Ser151Asn)
|
rs1028824532
|
|
NM_004722.4(AP4M1):c.454G>A (p.Val152Ile)
|
|
|
NM_004722.4(AP4M1):c.45C>G (p.Leu15=)
|
|
|
NM_004722.4(AP4M1):c.45C>T (p.Leu15=)
|
|
|
NM_004722.4(AP4M1):c.462+15A>G
|
|
|
NM_004722.4(AP4M1):c.462+20_462+22del
|
|
|
NM_004722.4(AP4M1):c.471T>C (p.Ala157=)
|
|
|
NM_004722.4(AP4M1):c.498del (p.Ser167fs)
|
rs766513025
|
|
NM_004722.4(AP4M1):c.519C>T (p.Pro173=)
|
rs551112932
|
|
NM_004722.4(AP4M1):c.528C>T (p.Ser176=)
|
|
|
NM_004722.4(AP4M1):c.52_58+6del
|
rs1350685858
|
|
NM_004722.4(AP4M1):c.544-11C>T
|
|
|
NM_004722.4(AP4M1):c.544-13C>T
|
rs2116643223
|
|
NM_004722.4(AP4M1):c.544-16TC[3]
|
rs751511522
|
|
NM_004722.4(AP4M1):c.544-7_544-6del
|
|
|
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.55G>A (p.Asp19Asn)
|
rs1219582721
|
|
NM_004722.4(AP4M1):c.566T>G (p.Leu189Trp)
|
rs2116643609
|
|
NM_004722.4(AP4M1):c.568del (p.Asp190fs)
|
|
|
NM_004722.4(AP4M1):c.576C>G (p.Val192=)
|
|
|
NM_004722.4(AP4M1):c.576C>T (p.Val192=)
|
rs776742429
|
|
NM_004722.4(AP4M1):c.58+14T>C
|
|
|
NM_004722.4(AP4M1):c.58+1_58+2del
|
rs1796054104
|
|
NM_004722.4(AP4M1):c.58+2T>G
|
rs1554377262
|
|
NM_004722.4(AP4M1):c.59-11C>T
|
rs774846906
|
|
NM_004722.4(AP4M1):c.59-14C>T
|
|
|
NM_004722.4(AP4M1):c.59-16T>C
|
|
|
NM_004722.4(AP4M1):c.59-17G>A
|
|
|
NM_004722.4(AP4M1):c.591A>G (p.Val197=)
|
|
|
NM_004722.4(AP4M1):c.600A>G (p.Ala200=)
|
|
|
NM_004722.4(AP4M1):c.606+18A>C
|
|
|
NM_004722.4(AP4M1):c.607-13C>T
|
|
|
NM_004722.4(AP4M1):c.607-2_607-1del
|
|
|
NM_004722.4(AP4M1):c.607-5C>T
|
|
|
NM_004722.4(AP4M1):c.622G>A (p.Val208Met)
|
|
|
NM_004722.4(AP4M1):c.63_64del (p.Asp23fs)
|
|
|
NM_004722.4(AP4M1):c.666C>T (p.Ser222=)
|
|
|
NM_004722.4(AP4M1):c.673+11T>C
|
|
|
NM_004722.4(AP4M1):c.673+18A>G
|
|
|
NM_004722.4(AP4M1):c.674-19A>T
|
rs1010643109
|
|
NM_004722.4(AP4M1):c.674-19_674-17del
|
|
|
NM_004722.4(AP4M1):c.674-6C>T
|
|
|
NM_004722.4(AP4M1):c.674-8_674-6del
|
rs2116650324
|
|
NM_004722.4(AP4M1):c.697G>T (p.Glu233Ter)
|
|
|
NM_004722.4(AP4M1):c.706G>T (p.Val236Leu)
|
|
|
NM_004722.4(AP4M1):c.707T>C (p.Val236Ala)
|
|
|
NM_004722.4(AP4M1):c.728-12C>T
|
|
|
NM_004722.4(AP4M1):c.728-17T>C
|
|
|
NM_004722.4(AP4M1):c.728-21TC[5]
|
rs748639289
|
|
NM_004722.4(AP4M1):c.728-21TC[6]
|
|
|
NM_004722.4(AP4M1):c.729T>G (p.Gly243=)
|
|
|
NM_004722.4(AP4M1):c.741A>C (p.Gly247=)
|
rs1051745199
|
|
NM_004722.4(AP4M1):c.750C>A (p.Val250=)
|
|
|
NM_004722.4(AP4M1):c.751G>A (p.Asp251Asn)
|
|
|
NM_004722.4(AP4M1):c.776_777del (p.Val259fs)
|
rs1397027035
|
|
NM_004722.4(AP4M1):c.781C>G (p.Leu261Val)
|
|
|
NM_004722.4(AP4M1):c.797C>G (p.Ser266Cys)
|
rs2116654283
|
|
NM_004722.4(AP4M1):c.807C>T (p.Ile269=)
|
rs755494077
|
|
NM_004722.4(AP4M1):c.834+8T>C
|
|
|
NM_004722.4(AP4M1):c.839C>T (p.Thr280Ile)
|
|
|
NM_004722.4(AP4M1):c.842_843del (p.Val281fs)
|
rs776788025
|
|
NM_004722.4(AP4M1):c.851A>C (p.Tyr284Ser)
|
rs1554380391
|
|
NM_004722.4(AP4M1):c.85G>A (p.Val29Met)
|
|
|
NM_004722.4(AP4M1):c.861dup (p.Asp288fs)
|
|
|
NM_004722.4(AP4M1):c.864T>C (p.Asp288=)
|
|
|
NM_004722.4(AP4M1):c.866A>G (p.Asp289Gly)
|
rs1584516454
|
|
NM_004722.4(AP4M1):c.872C>A (p.Pro291His)
|
|
|
NM_004722.4(AP4M1):c.878C>T (p.Pro293Leu)
|
rs757649099
|
|
NM_004722.4(AP4M1):c.891G>C (p.Arg297=)
|
|
|
NM_004722.4(AP4M1):c.923C>G (p.Ser308Ter)
|
rs1131691556
|
|
NM_004722.4(AP4M1):c.923C>T (p.Ser308Leu)
|
rs1131691556
|
|
NM_004722.4(AP4M1):c.929+10T>C
|
rs758175403
|
|
NM_004722.4(AP4M1):c.929+5G>A
|
rs1293317548
|
|
NM_004722.4(AP4M1):c.930-1G>C
|
|
|
NM_004722.4(AP4M1):c.930-4C>G
|
|
|
NM_004722.4(AP4M1):c.930-6A>C
|
|
|
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter)
|
rs730882249
|
|
NM_004722.4(AP4M1):c.961C>T (p.Leu321=)
|
|
|
NM_004722.4(AP4M1):c.974+115dup
|
|
|
NM_004722.4(AP4M1):c.975-13G>A
|
|
|
NM_004722.4(AP4M1):c.975-13G>T
|
rs778720143
|
|
NM_004722.4(AP4M1):c.975-14C>A
|
rs370610939
|
|
NM_004722.4(AP4M1):c.975-16C>T
|
|
|
NM_004722.4(AP4M1):c.975-25_975-22del
|
|
|
NM_004722.4(AP4M1):c.975-8C>T
|
|
|
NM_004722.4(AP4M1):c.975-9C>T
|
|
|
NM_004722.4(AP4M1):c.984C>A (p.Leu328=)
|
|
|
NM_004722.4(AP4M1):c.984C>G (p.Leu328=)
|
|
|
NM_004722.4(AP4M1):c.990C>G (p.Val330=)
|
rs371813095
|
|
NM_004722.4(AP4M1):c.994C>G (p.Leu332Val)
|
rs2116668165
|
|
NM_004722.4(AP4M1):c.9C>A (p.Ser3=)
|
|
|
NM_006594.5:c.667del
|
rs2101027843
|
|
NM_007347.5(AP4E1):c.1316+44_1316+54del
|
rs144809125
|
|
NM_007347.5(AP4E1):c.1317-2A>C
|
rs1567230528
|
|
NM_007347.5(AP4E1):c.1359_1360insNN (p.Val454fs)
|
rs2140861877
|
|
NM_007347.5(AP4E1):c.1429+1G>T
|
|
|
NM_007347.5(AP4E1):c.1558dup (p.Glu520fs)
|
|
|
NM_007347.5(AP4E1):c.1675A>C (p.Thr559Pro)
|
rs1176175925
|
|
NM_007347.5(AP4E1):c.3096-57dup
|
rs3840015
|
|
NM_007347.5(AP4E1):c.326A>G (p.Asn109Ser)
|
rs2063619601
|
|
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter)
|
rs1313275799
|
|
NM_007347.5(AP4E1):c.382C>T (p.His128Tyr)
|
rs2063738778
|
|
NM_007347.5(AP4E1):c.541A>C (p.Lys181Gln)
|
rs1404968090
|
|
NM_007347.5(AP4E1):c.542+5_542+8del
|
rs2141147450
|
|
NM_007347.5(AP4E1):c.773A>G (p.Lys258Arg)
|
|
|
NM_007347.5(AP4E1):c.942_943+3delinsCC
|
rs2141164878
|
|