NM_000350.3(ABCA4):c.570+1888A>G
|
rs577059
|
0.99685
|
NM_000350.3(ABCA4):c.141A>G (p.Pro47=)
|
rs4847281
|
0.98746
|
NM_000350.3(ABCA4):c.3050+538_3050+541del
|
rs146620420
|
0.92164
|
NM_000350.3(ABCA4):c.5836-167C>T
|
rs1191234
|
0.86731
|
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)
|
rs1762114
|
0.78856
|
NM_000350.3(ABCA4):c.769-86A>G
|
rs574741
|
0.73478
|
NM_000350.3(ABCA4):c.2160+470T>C
|
rs521538
|
0.70254
|
NM_000350.3(ABCA4):c.5585-70C>T
|
rs537831
|
0.65778
|
NM_000350.3(ABCA4):c.5313-193A>G
|
rs2275034
|
0.60161
|
NM_000350.3(ABCA4):c.4352+168A>G
|
rs4147843
|
0.56299
|
NM_000350.3(ABCA4):c.4540-2169A>G
|
rs3945204
|
0.56197
|
NM_000350.3(ABCA4):c.4128+156C>T
|
rs4147841
|
0.56024
|
NM_000350.3(ABCA4):c.302+26A>G
|
rs2297634
|
0.48752
|
NM_000350.3(ABCA4):c.442+80G>T
|
rs11165073
|
0.48353
|
NM_000350.3(ABCA4):c.5313-283T>G
|
rs3818778
|
0.48248
|
NM_000350.3(ABCA4):c.1240-14C>T
|
rs4147830
|
0.47169
|
NM_000350.3(ABCA4):c.4353-220G>A
|
rs4147846
|
0.46711
|
NM_000350.3(ABCA4):c.4353-300C>T
|
rs4147844
|
0.42281
|
NM_000350.3(ABCA4):c.4353-230G>A
|
rs4147845
|
0.41894
|
NM_000350.3(ABCA4):c.2744-244G>A
|
rs544830
|
0.41858
|
NM_000350.3(ABCA4):c.66+208G>A
|
rs3789451
|
0.41216
|
NM_000350.3(ABCA4):c.5460+62G>A
|
rs2275033
|
0.40111
|
NM_000350.3(ABCA4):c.570+80T>C
|
rs4847278
|
0.36670
|
NM_000350.3(ABCA4):c.2653+204T>G
|
rs1191231
|
0.35972
|
NM_000350.3(ABCA4):c.3051-195C>A
|
rs4147839
|
0.31799
|
NM_000350.3(ABCA4):c.5197-186T>C
|
rs915201
|
0.31452
|
NM_000350.3(ABCA4):c.768+434A>G
|
rs12088309
|
0.31451
|
NM_000350.3(ABCA4):c.5312+304A>G
|
rs914957
|
0.31407
|
NM_000350.3(ABCA4):c.443-124A>G
|
rs2297636
|
0.30085
|
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=)
|
rs1801555
|
0.27862
|
NM_000350.3(ABCA4):c.1100-143G>A
|
rs2275035
|
0.27633
|
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg)
|
rs3112831
|
0.25928
|
NM_000350.3(ABCA4):c.6816+127C>T
|
rs4147872
|
0.25443
|
NM_000350.3(ABCA4):c.769-264T>C
|
rs572960
|
0.24162
|
NM_000350.3(ABCA4):c.769-32T>C
|
rs526016
|
0.24162
|
NM_000350.3(ABCA4):c.5312+227T>C
|
rs914958
|
0.23862
|
NM_000350.3(ABCA4):c.5312+290_5312+291insT
|
rs4147895
|
0.23836
|
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)
|
rs1801574
|
0.23813
|
NM_000350.3(ABCA4):c.5714+152del
|
rs112614086
|
0.23806
|
NM_000350.3(ABCA4):c.5714+321G>A
|
rs2065712
|
0.23789
|
NM_000350.3(ABCA4):c.5461-337G>A
|
rs2893264
|
0.23768
|
NM_000350.3(ABCA4):c.5584+123G>A
|
rs2065711
|
0.23742
|
NM_000350.3(ABCA4):c.1761-54G>A
|
rs4147833
|
0.23727
|
NM_000350.3(ABCA4):c.5461-51del
|
rs4147899
|
0.23674
|
NM_000350.3(ABCA4):c.160+212G>T
|
rs7524869
|
0.22817
|
NM_000350.3(ABCA4):c.66+81A>G
|
rs74102103
|
0.21036
|
NM_000350.3(ABCA4):c.161-288G>A
|
rs1889404
|
0.20570
|
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)
|
rs4147857
|
0.20473
|
NM_000350.3(ABCA4):c.5715-25A>C
|
rs4147856
|
0.20432
|
NM_000350.3(ABCA4):c.5836-11G>A
|
rs1800739
|
0.20309
|
NM_000350.3(ABCA4):c.5836-43C>A
|
rs2275031
|
0.19847
|
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)
|
rs2275029
|
0.19626
|
NM_000350.3(ABCA4):c.5898+234G>A
|
rs3789385
|
0.19599
|
NM_000350.3(ABCA4):c.5898+186T>C
|
rs3789386
|
0.19581
|
NM_000350.3(ABCA4):c.5835+122T>G
|
rs2275032
|
0.19529
|
NM_000350.3(ABCA4):c.5899-183G>A
|
rs3789384
|
0.19516
|
NM_000350.3(ABCA4):c.6005+281C>T
|
rs7531001
|
0.19503
|
NM_000350.3(ABCA4):c.6005+328A>G
|
rs4147858
|
0.19392
|
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)
|
rs6666652
|
0.17582
|
NM_000350.3(ABCA4):c.302+330T>C
|
rs4147810
|
0.16066
|
NM_000350.3(ABCA4):c.442+213T>C
|
rs12093963
|
0.15909
|
NM_000350.3(ABCA4):c.302+101C>T
|
rs2297635
|
0.15778
|
NM_000350.3(ABCA4):c.161-327C>A
|
rs3789438
|
0.15225
|
NM_000350.3(ABCA4):c.6730-3T>C
|
rs1800717
|
0.15096
|
NM_000350.3(ABCA4):c.6816+28G>C
|
rs6666559
|
0.15041
|
NM_000350.3(ABCA4):c.5019-285A>G
|
rs56031604
|
0.14334
|
NM_000350.3(ABCA4):c.6148-686G>A
|
rs74102057
|
0.13430
|
NM_000350.3(ABCA4):c.6148-492T>C
|
rs11804211
|
0.13338
|
NM_000350.3(ABCA4):c.6148-655T>C
|
rs11804569
|
0.13336
|
NM_000350.3(ABCA4):c.6148-215G>A
|
rs17110768
|
0.13322
|
NM_000350.3(ABCA4):c.6148-809C>T
|
rs74102061
|
0.13322
|
NM_000350.3(ABCA4):c.6148-745A>G
|
rs74102058
|
0.13320
|
NM_000350.3(ABCA4):c.6148-297C>T
|
rs11805627
|
0.13318
|
NM_000350.3(ABCA4):c.6479+269G>A
|
rs4147867
|
0.13316
|
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)
|
rs1801359
|
0.13311
|
NM_000350.3(ABCA4):c.6148-184A>T
|
rs74102054
|
0.13310
|
NM_000350.3(ABCA4):c.6148-794C>T
|
rs74102060
|
0.13310
|
NM_000350.3(ABCA4):c.6479+283T>C
|
rs12070278
|
0.13308
|
NM_000350.3(ABCA4):c.6282+7G>A
|
rs17110761
|
0.13306
|
NM_000350.3(ABCA4):c.6480-102A>G
|
rs10874826
|
0.13305
|
NM_000350.3(ABCA4):c.6480-101G>A
|
rs10874825
|
0.13304
|
NM_000350.3(ABCA4):c.6148-777T>C
|
rs74102059
|
0.13296
|
NM_000350.3(ABCA4):c.6729+312C>T
|
rs17110743
|
0.12822
|
NM_000350.3(ABCA4):c.5715-300T>C
|
rs55694362
|
0.11743
|
NM_000350.3(ABCA4):c.5715-220C>G
|
rs56166161
|
0.11697
|
NM_000350.3(ABCA4):c.4128+201C>T
|
rs7543524
|
0.11502
|
NM_000350.3(ABCA4):c.5585-120G>A
|
rs7519657
|
0.10817
|
NM_000350.3(ABCA4):c.5019-176T>C
|
rs17110850
|
0.10675
|
NM_000350.3(ABCA4):c.4253+106A>G
|
rs56253197
|
0.10498
|
NM_000350.3(ABCA4):c.6147+219T>A
|
rs72956573
|
0.10128
|
NM_000350.3(ABCA4):c.6729+51C>G
|
rs7518454
|
0.09936
|
NM_000350.3(ABCA4):c.1269C>T (p.His423=)
|
rs4147831
|
0.09402
|
NM_000350.3(ABCA4):c.6147+187G>C
|
rs7533425
|
0.09227
|
NM_000350.3(ABCA4):c.570+1887C>T
|
rs72725196
|
0.08930
|
NM_000350.3(ABCA4):c.4539+1770C>A
|
rs17110885
|
0.08679
|
NM_000350.3(ABCA4):c.*372A>G
|
rs3747961
|
0.07805
|
NM_000350.3(ABCA4):c.6282+176C>T
|
rs4147864
|
0.07634
|
NM_000350.3(ABCA4):c.6817-202T>A
|
rs17110718
|
0.06805
|
NM_000350.3(ABCA4):c.5313-109A>G
|
rs56307710
|
0.06488
|
NM_000350.3(ABCA4):c.2918+115C>T
|
rs17392369
|
0.06397
|
NM_000350.3(ABCA4):c.2160+49T>C
|
rs56197337
|
0.05471
|
NM_000350.3(ABCA4):c.571-1949A>C
|
rs3789423
|
0.05330
|
NM_000350.3(ABCA4):c.570+2008C>T
|
rs3789424
|
0.05323
|
NM_000350.3(ABCA4):c.570+1697del
|
rs3842498
|
0.05214
|
NM_000350.3(ABCA4):c.6006-85G>A
|
rs2275028
|
0.05125
|
NM_000350.3(ABCA4):c.5461-284C>T
|
rs4147855
|
0.05119
|
NM_000350.3(ABCA4):c.2654-47T>C
|
rs12095320
|
0.05113
|
NM_000350.3(ABCA4):c.2161-139T>C
|
rs17110958
|
0.05045
|
NM_000350.3(ABCA4):c.2744-262C>G
|
rs72725166
|
0.05026
|
NM_000350.3(ABCA4):c.5196+1015A>G
|
rs17389488
|
0.04989
|
NM_000350.3(ABCA4):c.635G>A (p.Arg212His)
|
rs6657239
|
0.04939
|
NM_000350.3(ABCA4):c.3862+215G>A
|
rs2001963
|
0.04935
|
NM_000350.3(ABCA4):c.2654-48G>C
|
rs12069723
|
0.04589
|
NM_000350.3(ABCA4):c.67-150G>A
|
rs72960501
|
0.04570
|
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
NM_000350.3(ABCA4):c.66+234A>G
|
rs3789450
|
0.03926
|
NM_000350.3(ABCA4):c.67-141G>A
|
rs74104524
|
0.03834
|
NM_000350.3(ABCA4):c.160+278G>A
|
rs7524782
|
0.03667
|
NC_000001.11:g.94121334C>A
|
rs11806223
|
0.03604
|
NC_000001.11:g.94121288G>A
|
rs11802887
|
0.03601
|
NM_000350.3(ABCA4):c.4254-38G>A
|
rs17110898
|
0.03389
|
NM_000350.3(ABCA4):c.1938-773A>G
|
rs41292683
|
0.03309
|
NM_000350.3(ABCA4):c.4539+2029C>G
|
rs17110883
|
0.03299
|
NM_000350.3(ABCA4):c.4539+1702A>G
|
rs17110887
|
0.03263
|
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)
|
rs56142141
|
0.03191
|
NM_000350.3(ABCA4):c.2587+216C>A
|
rs56375042
|
0.03127
|
NM_000350.3(ABCA4):c.3050+328A>G
|
rs60221131
|
0.03043
|
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)
|
rs1801581
|
0.02951
|
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)
|
rs61750126
|
0.02895
|
NM_000350.3(ABCA4):c.3329-34A>G
|
rs11810336
|
0.02890
|
NM_000350.3(ABCA4):c.3190+101G>A
|
rs79871431
|
0.02596
|
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)
|
rs77293072
|
0.02574
|
NM_000350.3(ABCA4):c.6817-85C>T
|
rs75999881
|
0.02570
|
NM_000350.3(ABCA4):c.1100-186T>G
|
rs17111014
|
0.02532
|
NM_000350.3(ABCA4):c.1099+123T>C
|
rs6682366
|
0.02525
|
NM_000350.3(ABCA4):c.3050+170T>C
|
rs17110925
|
0.02410
|
NM_000350.3(ABCA4):c.5019-131G>A
|
rs55951001
|
0.02375
|
NM_000350.3(ABCA4):c.4129-278G>T
|
rs78752241
|
0.02265
|
NM_000350.3(ABCA4):c.3863-87C>A
|
rs6690840
|
0.02185
|
NM_000350.3(ABCA4):c.5197-95T>C
|
rs72958426
|
0.02160
|
NM_000350.3(ABCA4):c.1760+169T>A
|
rs17390419
|
0.02159
|
NM_000350.3(ABCA4):c.5196+899C>T
|
rs145838948
|
0.02157
|
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln)
|
rs61750129
|
0.02065
|
NM_000350.3(ABCA4):c.6148-389G>A
|
rs17110776
|
0.02027
|
NM_000350.3(ABCA4):c.5460+222C>G
|
rs72958420
|
0.01956
|
NM_000350.3(ABCA4):c.2744-124G>A
|
rs77305056
|
0.01910
|
NM_000350.3(ABCA4):c.6480-224T>C
|
rs74641924
|
0.01690
|
NM_000350.3(ABCA4):c.4129-119C>T
|
rs74102090
|
0.01660
|
NM_000350.3(ABCA4):c.4540-2095G>C
|
rs79767440
|
0.01616
|
NM_000350.3(ABCA4):c.6148-403A>G
|
rs115876130
|
0.01575
|
NM_000350.3(ABCA4):c.*134G>A
|
rs76201551
|
0.01542
|
NM_000350.3(ABCA4):c.4634+136G>T
|
rs75843983
|
0.01518
|
NM_000350.3(ABCA4):c.5197-93C>T
|
rs72725148
|
0.01501
|
NM_000350.3(ABCA4):c.3523-288C>T
|
rs72725162
|
0.01477
|
NM_000350.3(ABCA4):c.6729+61G>A
|
rs56086814
|
0.01469
|
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=)
|
rs61754034
|
0.01415
|
NM_000350.3(ABCA4):c.769-157T>G
|
rs76277422
|
0.01380
|
NM_000350.3(ABCA4):c.4129-70T>A
|
rs143653650
|
0.01351
|
NM_000350.3(ABCA4):c.1239+71T>A
|
rs113931184
|
0.01349
|
NM_000350.3(ABCA4):c.4667+133C>T
|
rs41292679
|
0.01322
|
NM_000350.3(ABCA4):c.2653+239T>C
|
rs75331129
|
0.01320
|
NM_000350.3(ABCA4):c.141= (p.Pro47=)
|
rs4847281
|
0.01254
|
NM_000350.3(ABCA4):c.3051-193T>C
|
rs4847272
|
0.01240
|
NM_000350.3(ABCA4):c.4668-113G>A
|
rs115406048
|
0.01232
|
NM_000350.3(ABCA4):c.1761-50G>A
|
rs61754022
|
0.01220
|
NM_000350.3(ABCA4):c.2588-33C>T
|
rs77805080
|
0.01197
|
NM_000350.3(ABCA4):c.3522+31C>A
|
rs115209782
|
0.01145
|
NM_000350.3(ABCA4):c.1554+287T>C
|
rs141819216
|
0.01096
|
NM_000350.3(ABCA4):c.5585-126T>C
|
rs75549082
|
0.01088
|
NM_000350.3(ABCA4):c.3328+125T>A
|
rs6675679
|
0.01087
|
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn)
|
rs1800555
|
0.01028
|
NM_000350.3(ABCA4):c.3051-14T>A
|
rs17110922
|
0.01008
|
NM_000350.3(ABCA4):c.6729+21C>T
|
rs1800699
|
0.00981
|
NM_000350.3(ABCA4):c.67-237C>T
|
rs116306224
|
0.00946
|
NM_000350.3(ABCA4):c.2161-287dup
|
rs3838277
|
0.00942
|
NM_000350.3(ABCA4):c.1239+66G>A
|
rs200943894
|
0.00927
|
NM_000350.3(ABCA4):c.1357-110C>A
|
rs74104506
|
0.00927
|
NM_000350.3(ABCA4):c.6730-32T>A
|
rs116314807
|
0.00921
|
NM_000350.3(ABCA4):c.3523-85C>T
|
rs72958470
|
0.00912
|
NM_000350.3(ABCA4):c.3523-234G>A
|
rs72958474
|
0.00908
|
NM_000350.3(ABCA4):c.3523-230G>T
|
rs72958472
|
0.00905
|
NM_000350.3(ABCA4):c.1761-64G>A
|
rs116585401
|
0.00864
|
NM_000350.3(ABCA4):c.1938-227G>A
|
rs75396612
|
0.00855
|
NM_000350.3(ABCA4):c.768+508A>G
|
rs77933221
|
0.00825
|
NM_000350.3(ABCA4):c.6479+272T>C
|
rs113740227
|
0.00705
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
NM_000350.3(ABCA4):c.2653+57C>T
|
rs114978109
|
0.00641
|
NM_000350.3(ABCA4):c.2743+155G>T
|
rs114681343
|
0.00638
|
NM_000350.3(ABCA4):c.1356+173G>A
|
rs116563912
|
0.00630
|
NM_000350.3(ABCA4):c.570+20C>T
|
rs78637152
|
0.00569
|
NM_000350.3(ABCA4):c.302+20C>T
|
rs61753050
|
0.00508
|
NM_000350.3(ABCA4):c.1761-37G>A
|
rs61754021
|
0.00491
|
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)
|
rs61749417
|
0.00491
|
NM_000350.3(ABCA4):c.3523-28T>C
|
rs55896821
|
0.00489
|
NM_000350.3(ABCA4):c.4253+43G>A
|
rs61754045
|
0.00486
|
NM_000350.3(ABCA4):c.443-228C>A
|
rs143202470
|
0.00468
|
NM_000350.3(ABCA4):c.2918+195G>A
|
rs140802897
|
0.00457
|
NM_000350.3(ABCA4):c.*136G>A
|
rs55665437
|
0.00448
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_000350.3(ABCA4):c.4668-38C>T
|
rs61754053
|
0.00423
|
NM_000350.3(ABCA4):c.4668-96C>T
|
rs9661576
|
0.00421
|
NM_000350.3(ABCA4):c.5898+87A>G
|
rs116198846
|
0.00389
|
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)
|
rs61749435
|
0.00385
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_000350.3(ABCA4):c.4254-47T>C
|
rs56142328
|
0.00359
|
NM_000350.3(ABCA4):c.768+62C>T
|
rs17111045
|
0.00354
|
NM_000350.3(ABCA4):c.3862+232G>A
|
rs11582150
|
0.00342
|
NM_000350.3(ABCA4):c.4352+14C>T
|
rs75359153
|
0.00325
|
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=)
|
rs61754023
|
0.00324
|
NM_000350.3(ABCA4):c.4503G>C (p.Glu1501Asp)
|
rs143272984
|
0.00321
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_000350.3(ABCA4):c.237T>C (p.Asn79=)
|
rs149381884
|
0.00306
|
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)
|
rs62646862
|
0.00276
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_000350.3(ABCA4):c.769-210G>A
|
rs185566364
|
0.00266
|
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile)
|
rs145525174
|
0.00246
|
NM_000350.3(ABCA4):c.1653G>A (p.Val551=)
|
rs61753963
|
0.00243
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_000350.3(ABCA4):c.672G>A (p.Thr224=)
|
rs140972064
|
0.00214
|
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)
|
rs61749455
|
0.00194
|
NM_000350.3(ABCA4):c.5196+1159G>A
|
rs80110715
|
0.00191
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)
|
rs61748519
|
0.00185
|
NM_000350.3(ABCA4):c.2588-12C>G
|
rs61751396
|
0.00183
|
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)
|
rs138682163
|
0.00183
|
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)
|
rs61754024
|
0.00178
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His)
|
rs61752395
|
0.00176
|
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)
|
rs61754030
|
0.00174
|
NM_000350.3(ABCA4):c.4253+13G>A
|
rs145766145
|
0.00168
|
NM_000350.3(ABCA4):c.-92C>T
|
rs200102393
|
0.00161
|
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met)
|
rs1800549
|
0.00160
|
NM_000350.3(ABCA4):c.574G>A (p.Ala192Thr)
|
rs61748535
|
0.00158
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_000350.3(ABCA4):c.4128+11C>T
|
rs202102586
|
0.00148
|
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)
|
rs58331765
|
0.00136
|
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)
|
rs61749440
|
0.00133
|
NM_000350.3(ABCA4):c.3191-20C>T
|
rs61754036
|
0.00130
|
NM_000350.3(ABCA4):c.3328+18G>A
|
rs187354107
|
0.00129
|
NM_000350.3(ABCA4):c.2653+23C>G
|
rs2297632
|
0.00122
|
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)
|
rs145483148
|
0.00120
|
NM_000350.3(ABCA4):c.-34C>T
|
rs375186173
|
0.00112
|
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=)
|
rs141004967
|
0.00112
|
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)
|
rs201150919
|
0.00100
|
NM_000350.3(ABCA4):c.4467G>T (p.Arg1489Ser)
|
rs140952412
|
0.00098
|
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=)
|
rs139050119
|
0.00097
|
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)
|
rs1800548
|
0.00090
|
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)
|
rs61749454
|
0.00089
|
NM_000350.3(ABCA4):c.4129-17C>T
|
rs200194007
|
0.00088
|
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)
|
rs61750563
|
0.00088
|
NM_000350.3(ABCA4):c.5307G>C (p.Leu1769=)
|
rs146443426
|
0.00079
|
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=)
|
rs117400594
|
0.00078
|
NM_000350.3(ABCA4):c.-94G>T
|
rs113514871
|
0.00076
|
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)
|
rs61753019
|
0.00076
|
NM_000350.3(ABCA4):c.1356+11T>G
|
rs113055350
|
0.00073
|
NM_000350.3(ABCA4):c.3297A>C (p.Ser1099=)
|
rs148917659
|
0.00073
|
NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg)
|
rs142506651
|
0.00071
|
NM_000350.3(ABCA4):c.1937+16G>A
|
rs372199988
|
0.00070
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys)
|
rs75267647
|
0.00066
|
NM_000350.3(ABCA4):c.1356+11_1356+12insG
|
rs1557794244
|
0.00065
|
NM_000350.3(ABCA4):c.3863-14A>G
|
rs181272008
|
0.00062
|
NM_000350.3(ABCA4):c.4352+13G>A
|
rs61754048
|
0.00059
|
NM_000350.3(ABCA4):c.3050+16A>G
|
rs111546154
|
0.00055
|
NM_000350.3(ABCA4):c.981C>T (p.Pro327=)
|
rs61753057
|
0.00054
|
NM_000350.3(ABCA4):c.3468C>T (p.Tyr1156=)
|
rs113698006
|
0.00053
|
NM_000350.3(ABCA4):c.6730-19G>A
|
rs375179475
|
0.00052
|
NM_000350.3(ABCA4):c.2919-16C>T
|
rs202012712
|
0.00049
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val)
|
rs145065936
|
0.00046
|
NM_000350.3(ABCA4):c.5196+20G>A
|
rs55715124
|
0.00045
|
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=)
|
rs61754033
|
0.00041
|
NM_000350.3(ABCA4):c.5391T>C (p.Cys1797=)
|
rs147187030
|
0.00041
|
NM_000350.3(ABCA4):c.4353-4T>C
|
rs375886479
|
0.00039
|
NM_000350.3(ABCA4):c.5312+11T>C
|
rs769863517
|
0.00039
|
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)
|
rs61748545
|
0.00039
|
NM_000350.3(ABCA4):c.1240-8G>C
|
rs185225547
|
0.00038
|
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
|
rs140482171
|
0.00037
|
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)
|
rs143263315
|
0.00037
|
NM_000350.3(ABCA4):c.4352+15G>A
|
rs139611589
|
0.00036
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_000350.3(ABCA4):c.5992G>A (p.Val1998Ile)
|
rs147870733
|
0.00036
|
NM_000350.3(ABCA4):c.1969A>G (p.Ile657Val)
|
rs199590367
|
0.00034
|
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg)
|
rs144995371
|
0.00034
|
NM_000350.3(ABCA4):c.2930C>T (p.Thr977Met)
|
rs148015012
|
0.00034
|
NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys)
|
rs150895509
|
0.00034
|
NM_000350.3(ABCA4):c.4401C>T (p.Ser1467=)
|
rs188775667
|
0.00034
|
NM_000350.3(ABCA4):c.5586T>A (p.Gly1862=)
|
rs150257214
|
0.00034
|
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)
|
rs61750648
|
0.00034
|
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)
|
rs200692438
|
0.00033
|
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)
|
rs61748532
|
0.00033
|
NM_000350.3(ABCA4):c.4296C>T (p.Asp1432=)
|
rs368147821
|
0.00032
|
NM_000350.3(ABCA4):c.2383-12G>A
|
rs368548294
|
0.00031
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_000350.3(ABCA4):c.6669C>T (p.Leu2223=)
|
rs375495352
|
0.00031
|
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met)
|
rs139250920
|
0.00029
|
NM_000350.3(ABCA4):c.5692C>T (p.Arg1898Cys)
|
rs201357151
|
0.00029
|
NM_000350.3(ABCA4):c.2744-5C>T
|
rs76305791
|
0.00028
|
NM_000350.3(ABCA4):c.294C>G (p.Asn98Lys)
|
rs145133167
|
0.00028
|
NM_000350.3(ABCA4):c.3076T>C (p.Phe1026Leu)
|
rs369703217
|
0.00028
|
NM_000350.3(ABCA4):c.2383-13C>T
|
rs56026711
|
0.00026
|
NM_000350.3(ABCA4):c.6124G>A (p.Val2042Ile)
|
rs138384263
|
0.00025
|
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)
|
rs148460146
|
0.00024
|
NM_000350.3(ABCA4):c.2362G>A (p.Ala788Thr)
|
rs149214080
|
0.00023
|
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
|
rs61750130
|
0.00023
|
NM_000350.3(ABCA4):c.667A>C (p.Lys223Gln)
|
rs147619585
|
0.00023
|
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=)
|
rs376624031
|
0.00022
|
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)
|
rs1801269
|
0.00022
|
NM_000350.3(ABCA4):c.5984A>T (p.Asp1995Val)
|
rs141489669
|
0.00022
|
NM_000350.3(ABCA4):c.3568G>A (p.Ala1190Thr)
|
rs368692594
|
0.00021
|
NM_000350.3(ABCA4):c.3889G>A (p.Val1297Ile)
|
rs200753584
|
0.00021
|
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=)
|
rs138831474
|
0.00021
|
NM_000350.3(ABCA4):c.6068T>C (p.Ile2023Thr)
|
rs150633517
|
0.00021
|
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly)
|
rs145718830
|
0.00020
|
NM_000350.3(ABCA4):c.6283-8C>T
|
rs371076070
|
0.00020
|
NM_000350.3(ABCA4):c.2473G>A (p.Gly825Arg)
|
rs368367104
|
0.00019
|
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)
|
rs61750120
|
0.00019
|
NM_000350.3(ABCA4):c.4284G>A (p.Thr1428=)
|
rs146715683
|
0.00019
|
NM_000350.3(ABCA4):c.4539+14A>C
|
rs760050046
|
0.00019
|
NM_000350.3(ABCA4):c.5606C>T (p.Pro1869Leu)
|
rs376925793
|
0.00019
|
NM_000350.3(ABCA4):c.6333C>T (p.Asn2111=)
|
rs371572812
|
0.00019
|
NM_000350.3(ABCA4):c.4128+16G>A
|
rs61783968
|
0.00018
|
NM_000350.3(ABCA4):c.4556C>T (p.Thr1519Met)
|
rs115859773
|
0.00018
|
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
0.00018
|
NM_000350.3(ABCA4):c.1617C>T (p.Leu539=)
|
rs778990662
|
0.00017
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000350.3(ABCA4):c.3607+13C>T
|
rs374630957
|
0.00017
|
NM_000350.3(ABCA4):c.6416G>A (p.Arg2139Gln)
|
rs761867791
|
0.00017
|
NM_000350.3(ABCA4):c.2127G>A (p.Ser709=)
|
rs61754025
|
0.00016
|
NM_000350.3(ABCA4):c.3213G>A (p.Ser1071=)
|
rs141233353
|
0.00016
|
NM_000350.3(ABCA4):c.4539+11T>C
|
rs202228390
|
0.00016
|
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)
|
rs61750152
|
0.00016
|
NM_000350.3(ABCA4):c.5312+8G>A
|
rs187953772
|
0.00016
|
NM_000350.3(ABCA4):c.6522G>A (p.Pro2174=)
|
rs143909323
|
0.00015
|
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)
|
rs201602424
|
0.00014
|
NM_000350.3(ABCA4):c.2673A>T (p.Glu891Asp)
|
rs766079334
|
0.00014
|
NM_000350.3(ABCA4):c.3051-18G>A
|
rs757046756
|
0.00014
|
NM_000350.3(ABCA4):c.3220A>G (p.Ile1074Val)
|
rs368054254
|
0.00014
|
NM_000350.3(ABCA4):c.3264C>T (p.Pro1088=)
|
rs140876019
|
0.00014
|
NM_000350.3(ABCA4):c.3363C>T (p.Asp1121=)
|
rs146117512
|
0.00014
|
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)
|
rs121909207
|
0.00014
|
NM_000350.3(ABCA4):c.6283-7C>A
|
rs377629178
|
0.00014
|
NM_000350.3(ABCA4):c.6560A>G (p.Gln2187Arg)
|
rs1339233014
|
0.00014
|
NM_000350.3(ABCA4):c.969G>A (p.Leu323=)
|
rs371139191
|
0.00014
|
NM_000350.3(ABCA4):c.1605C>T (p.Thr535=)
|
rs151089664
|
0.00013
|
NM_000350.3(ABCA4):c.429G>A (p.Pro143=)
|
rs138494741
|
0.00013
|
NM_000350.3(ABCA4):c.5196+1137G>A
|
rs778234759
|
0.00013
|
NM_000350.3(ABCA4):c.741C>T (p.Asn247=)
|
rs372976742
|
0.00013
|
NM_000350.3(ABCA4):c.4026G>A (p.Pro1342=)
|
rs769291698
|
0.00012
|
NM_000350.3(ABCA4):c.5076C>T (p.Phe1692=)
|
rs148351929
|
0.00012
|
NM_000350.3(ABCA4):c.903G>A (p.Arg301=)
|
rs142076270
|
0.00012
|
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys)
|
rs138157885
|
0.00011
|
NM_000350.3(ABCA4):c.1544A>G (p.Gln515Arg)
|
rs372838089
|
0.00011
|
NM_000350.3(ABCA4):c.2496C>T (p.Asp832=)
|
rs142186046
|
0.00011
|
NM_000350.3(ABCA4):c.3191-19G>A
|
rs371455065
|
0.00011
|
NM_000350.3(ABCA4):c.3329-11C>T
|
rs367580653
|
0.00011
|
NM_000350.3(ABCA4):c.1636A>C (p.Met546Leu)
|
rs148391873
|
0.00010
|
NM_000350.3(ABCA4):c.2354G>A (p.Arg785His)
|
rs368457541
|
0.00010
|
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=)
|
rs570745701
|
0.00010
|
NM_000350.3(ABCA4):c.5482G>A (p.Val1828Met)
|
rs200297761
|
0.00010
|
NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala)
|
rs779585931
|
0.00010
|
NM_000350.3(ABCA4):c.1983G>C (p.Leu661=)
|
rs373643636
|
0.00009
|
NM_000350.3(ABCA4):c.2431C>T (p.Arg811Cys)
|
rs758777521
|
0.00009
|
NM_000350.3(ABCA4):c.2769A>G (p.Pro923=)
|
rs562861525
|
0.00009
|
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser)
|
rs149071415
|
0.00009
|
NM_000350.3(ABCA4):c.2822G>A (p.Cys941Tyr)
|
rs113503406
|
0.00009
|
NM_000350.3(ABCA4):c.4125G>A (p.Ala1375=)
|
rs776180321
|
0.00009
|
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)
|
rs61750145
|
0.00009
|
NM_000350.3(ABCA4):c.5319G>A (p.Ala1773=)
|
rs139120604
|
0.00009
|
NM_000350.3(ABCA4):c.5714+4C>T
|
rs376586802
|
0.00009
|
NM_000350.3(ABCA4):c.573C>T (p.Phe191=)
|
rs374454045
|
0.00009
|
NM_000350.3(ABCA4):c.589G>C (p.Asp197His)
|
rs142985501
|
0.00009
|
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met)
|
rs202127235
|
0.00009
|
NM_000350.3(ABCA4):c.6479+19G>A
|
rs185601596
|
0.00009
|
NM_000350.3(ABCA4):c.6816+5C>T
|
rs774815742
|
0.00009
|
NM_000350.3(ABCA4):c.826A>G (p.Ile276Val)
|
rs747686223
|
0.00009
|
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu)
|
rs190540405
|
0.00009
|
NM_000350.3(ABCA4):c.1552G>A (p.Glu518Lys)
|
rs369860406
|
0.00008
|
NM_000350.3(ABCA4):c.1861A>G (p.Arg621Gly)
|
rs141122703
|
0.00008
|
NM_000350.3(ABCA4):c.2843G>A (p.Arg948His)
|
rs148545207
|
0.00008
|
NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu)
|
rs375184282
|
0.00008
|
NM_000350.3(ABCA4):c.5460+3G>A
|
rs371777196
|
0.00008
|
NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=)
|
rs762632312
|
0.00008
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
0.00008
|
NM_000350.3(ABCA4):c.6446G>A (p.Arg2149Gln)
|
rs61750655
|
0.00008
|
NM_000350.3(ABCA4):c.660C>T (p.Arg220=)
|
rs369438631
|
0.00008
|
NM_000350.3(ABCA4):c.673G>A (p.Val225Met)
|
rs540124349
|
0.00008
|
NM_000350.3(ABCA4):c.1459C>T (p.Arg487Trp)
|
rs369286283
|
0.00007
|
NM_000350.3(ABCA4):c.2022C>T (p.Ile674=)
|
rs776425626
|
0.00007
|
NM_000350.3(ABCA4):c.2472C>T (p.Ile824=)
|
rs61749434
|
0.00007
|
NM_000350.3(ABCA4):c.2517C>T (p.Ser839=)
|
rs138246242
|
0.00007
|
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)
|
rs201471607
|
0.00007
|
NM_000350.3(ABCA4):c.2931G>A (p.Thr977=)
|
rs146963098
|
0.00007
|
NM_000350.3(ABCA4):c.4253+6C>T
|
rs372660973
|
0.00007
|
NM_000350.3(ABCA4):c.5461-52del
|
rs281865392
|
0.00007
|
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg)
|
rs142253670
|
0.00007
|
NM_000350.3(ABCA4):c.5991C>T (p.Thr1997=)
|
rs201278133
|
0.00007
|
NM_000350.3(ABCA4):c.1153A>G (p.Ile385Val)
|
rs753720666
|
0.00006
|
NM_000350.3(ABCA4):c.1267C>T (p.His423Tyr)
|
rs138044729
|
0.00006
|
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)
|
rs752786160
|
0.00006
|
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln)
|
rs61749410
|
0.00006
|
NM_000350.3(ABCA4):c.1818C>T (p.Gly606=)
|
rs377164833
|
0.00006
|
NM_000350.3(ABCA4):c.2337C>T (p.Cys779=)
|
rs61749430
|
0.00006
|
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu)
|
rs61750202
|
0.00006
|
NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg)
|
rs140281495
|
0.00006
|
NM_000350.3(ABCA4):c.2634G>A (p.Ser878=)
|
rs755162138
|
0.00006
|
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=)
|
rs180921875
|
0.00006
|
NM_000350.3(ABCA4):c.2652A>G (p.Glu884=)
|
rs200186333
|
0.00006
|
NM_000350.3(ABCA4):c.2743+12A>C
|
rs559119402
|
0.00006
|
NM_000350.3(ABCA4):c.302+1G>A
|
rs61751413
|
0.00006
|
NM_000350.3(ABCA4):c.3057G>A (p.Thr1019=)
|
rs61749458
|
0.00006
|
NM_000350.3(ABCA4):c.3184C>A (p.Leu1062Ile)
|
rs966434923
|
0.00006
|
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)
|
rs756840095
|
0.00006
|
NM_000350.3(ABCA4):c.3523-9C>G
|
rs374302531
|
0.00006
|
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)
|
rs61751402
|
0.00006
|
NM_000350.3(ABCA4):c.4540-6C>T
|
rs765178838
|
0.00006
|
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)
|
rs62642574
|
0.00006
|
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met)
|
rs62642575
|
0.00006
|
NM_000350.3(ABCA4):c.5019-32G>A
|
rs113014755
|
0.00006
|
NM_000350.3(ABCA4):c.5197-4C>T
|
rs758825834
|
0.00006
|
NM_000350.3(ABCA4):c.5312+45G>T
|
rs61754059
|
0.00006
|
NM_000350.3(ABCA4):c.571T>A (p.Phe191Ile)
|
rs200696846
|
0.00006
|
NM_000350.3(ABCA4):c.5898+20C>T
|
rs761429989
|
0.00006
|
NM_000350.3(ABCA4):c.6357A>G (p.Glu2119=)
|
rs773146370
|
0.00006
|
NM_000350.3(ABCA4):c.6795T>C (p.Ala2265=)
|
rs1337025555
|
0.00006
|
NM_000350.3(ABCA4):c.71G>A (p.Arg24His)
|
rs62645958
|
0.00006
|
NM_000350.3(ABCA4):c.742G>A (p.Val248Met)
|
rs200719724
|
0.00006
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_000350.3(ABCA4):c.1251T>C (p.Thr417=)
|
rs374336459
|
0.00005
|
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)
|
rs201117452
|
0.00005
|
NM_000350.3(ABCA4):c.1371C>A (p.Asn457Lys)
|
rs766282109
|
0.00005
|
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)
|
rs61748559
|
0.00005
|
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn)
|
rs145265791
|
0.00005
|
NM_000350.3(ABCA4):c.1945A>T (p.Ile649Phe)
|
rs374458630
|
0.00005
|
NM_000350.3(ABCA4):c.2267C>T (p.Ser756Phe)
|
rs372508062
|
0.00005
|
NM_000350.3(ABCA4):c.2341G>A (p.Ala781Thr)
|
rs774505934
|
0.00005
|
NM_000350.3(ABCA4):c.2383-10C>G
|
rs61754026
|
0.00005
|
NM_000350.3(ABCA4):c.2703A>G (p.Thr901=)
|
rs61749442
|
0.00005
|
NM_000350.3(ABCA4):c.2711C>T (p.Thr904Met)
|
rs774699366
|
0.00005
|
NM_000350.3(ABCA4):c.3370G>A (p.Asp1124Asn)
|
rs770774738
|
0.00005
|
NM_000350.3(ABCA4):c.3607+14G>C
|
rs750329533
|
0.00005
|
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)
|
rs142732109
|
0.00005
|
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)
|
rs568792949
|
0.00005
|
NM_000350.3(ABCA4):c.4643G>A (p.Ser1548Asn)
|
rs750192063
|
0.00005
|
NM_000350.3(ABCA4):c.5197-12T>C
|
rs756757152
|
0.00005
|
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp)
|
rs121909205
|
0.00005
|
NM_000350.3(ABCA4):c.570+1798A>G
|
rs888731641
|
0.00005
|
NM_000350.3(ABCA4):c.5734G>A (p.Glu1912Lys)
|
rs145299063
|
0.00005
|
NM_000350.3(ABCA4):c.6282+9G>A
|
rs758705900
|
0.00005
|
NM_000350.3(ABCA4):c.6438C>T (p.Gly2146=)
|
rs755121378
|
0.00005
|
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)
|
rs61751384
|
0.00005
|
NM_000350.3(ABCA4):c.751T>C (p.Phe251Leu)
|
rs146365399
|
0.00005
|
NM_000350.3(ABCA4):c.764G>A (p.Arg255His)
|
rs148387660
|
0.00005
|
NM_000350.3(ABCA4):c.1156G>A (p.Ala386Thr)
|
rs770754513
|
0.00004
|
NM_000350.3(ABCA4):c.1208A>T (p.Asp403Val)
|
rs913030626
|
0.00004
|
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)
|
rs61748550
|
0.00004
|
NM_000350.3(ABCA4):c.1477G>A (p.Asp493Asn)
|
rs541850518
|
0.00004
|
NM_000350.3(ABCA4):c.156T>G (p.His52Gln)
|
rs557725292
|
0.00004
|
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)
|
rs150774447
|
0.00004
|
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met)
|
rs74516571
|
0.00004
|
NM_000350.3(ABCA4):c.1729G>A (p.Val577Met)
|
rs547063913
|
0.00004
|
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)
|
rs61749412
|
0.00004
|
NM_000350.3(ABCA4):c.1958G>A (p.Arg653His)
|
rs141823837
|
0.00004
|
NM_000350.3(ABCA4):c.201G>A (p.Leu67=)
|
rs764200212
|
0.00004
|
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp)
|
rs61751395
|
0.00004
|
NM_000350.3(ABCA4):c.2487G>A (p.Thr829=)
|
rs770089512
|
0.00004
|
NM_000350.3(ABCA4):c.2763G>A (p.Glu921=)
|
rs749234960
|
0.00004
|
NM_000350.3(ABCA4):c.2924T>C (p.Ile975Thr)
|
rs146140442
|
0.00004
|
NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln)
|
rs759799179
|
0.00004
|
NM_000350.3(ABCA4):c.3210G>A (p.Leu1070=)
|
rs113398504
|
0.00004
|
NM_000350.3(ABCA4):c.3539C>T (p.Ser1180Leu)
|
rs267598773
|
0.00004
|
NM_000350.3(ABCA4):c.3586A>T (p.Thr1196Ser)
|
rs370967816
|
0.00004
|
NM_000350.3(ABCA4):c.3940C>A (p.Pro1314Thr)
|
rs61754041
|
0.00004
|
NM_000350.3(ABCA4):c.3974C>T (p.Pro1325Leu)
|
rs371582683
|
0.00004
|
NM_000350.3(ABCA4):c.4025C>T (p.Pro1342Leu)
|
rs981447805
|
0.00004
|
NM_000350.3(ABCA4):c.4128+12G>A
|
rs746262766
|
0.00004
|
NM_000350.3(ABCA4):c.4132G>A (p.Val1378Met)
|
rs777063656
|
0.00004
|
NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro)
|
rs61752430
|
0.00004
|
NM_000350.3(ABCA4):c.4204G>A (p.Ala1402Thr)
|
rs554101094
|
0.00004
|
NM_000350.3(ABCA4):c.4352+12C>T
|
rs749028617
|
0.00004
|
NM_000350.3(ABCA4):c.4371C>T (p.Asn1457=)
|
rs765591258
|
0.00004
|
NM_000350.3(ABCA4):c.4387A>C (p.Thr1463Pro)
|
rs113134400
|
0.00004
|
NM_000350.3(ABCA4):c.4539+2028C>T
|
rs869320785
|
0.00004
|
NM_000350.3(ABCA4):c.4625T>C (p.Ile1542Thr)
|
rs374921762
|
0.00004
|
NM_000350.3(ABCA4):c.5055C>T (p.Cys1685=)
|
rs749943475
|
0.00004
|
NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln)
|
rs61753021
|
0.00004
|
NM_000350.3(ABCA4):c.5197-3G>A
|
rs180865157
|
0.00004
|
NM_000350.3(ABCA4):c.5198T>C (p.Met1733Thr)
|
rs765563320
|
0.00004
|
NM_000350.3(ABCA4):c.5241C>T (p.Ile1747=)
|
rs548431469
|
0.00004
|
NM_000350.3(ABCA4):c.5242G>A (p.Gly1748Arg)
|
rs61753025
|
0.00004
|
NM_000350.3(ABCA4):c.5313-15T>C
|
rs369195320
|
0.00004
|
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=)
|
rs202199507
|
0.00004
|
NM_000350.3(ABCA4):c.5460+14T>C
|
rs778171793
|
0.00004
|
NM_000350.3(ABCA4):c.5481C>T (p.Ala1827=)
|
rs375744648
|
0.00004
|
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu)
|
rs374687000
|
0.00004
|
NM_000350.3(ABCA4):c.5584+13C>T
|
rs767882054
|
0.00004
|
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val)
|
rs369973540
|
0.00004
|
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=)
|
rs191506332
|
0.00004
|
NM_000350.3(ABCA4):c.5714+10T>C
|
rs758707705
|
0.00004
|
NM_000350.3(ABCA4):c.575C>T (p.Ala192Val)
|
rs185729337
|
0.00004
|
NM_000350.3(ABCA4):c.5888G>A (p.Arg1963His)
|
rs758431657
|
0.00004
|
NM_000350.3(ABCA4):c.6006-19A>T
|
rs370004173
|
0.00004
|
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp)
|
rs61750643
|
0.00004
|
NM_000350.3(ABCA4):c.6218G>C (p.Gly2073Ala)
|
rs752850266
|
0.00004
|
NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys)
|
rs2297669
|
0.00004
|
NM_000350.3(ABCA4):c.661G>A (p.Gly221Arg)
|
rs777187728
|
0.00004
|
NM_000350.3(ABCA4):c.694C>T (p.Leu232Phe)
|
rs757844726
|
0.00004
|
NM_000350.3(ABCA4):c.766G>T (p.Val256Leu)
|
rs374851665
|
0.00004
|
NM_000350.3(ABCA4):c.768+11G>A
|
rs777280879
|
0.00004
|
NM_000350.3(ABCA4):c.847A>G (p.Arg283Gly)
|
rs141802200
|
0.00004
|
NM_000350.3(ABCA4):c.998G>A (p.Arg333Gln)
|
rs142231757
|
0.00004
|
NM_000350.3(ABCA4):c.1003C>T (p.Leu335Phe)
|
rs1057520668
|
0.00003
|
NM_000350.3(ABCA4):c.1166C>T (p.Ala389Val)
|
rs201263774
|
0.00003
|
NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys)
|
rs770439859
|
0.00003
|
NM_000350.3(ABCA4):c.1493A>G (p.Asp498Gly)
|
rs147135304
|
0.00003
|
NM_000350.3(ABCA4):c.1554+8G>C
|
rs1357084392
|
0.00003
|
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)
|
rs61748556
|
0.00003
|
NM_000350.3(ABCA4):c.161-19C>G
|
rs373796884
|
0.00003
|
NM_000350.3(ABCA4):c.1655T>C (p.Val552Ala)
|
rs141864243
|
0.00003
|
NM_000350.3(ABCA4):c.180G>A (p.Ala60=)
|
rs756647171
|
0.00003
|
NM_000350.3(ABCA4):c.1937+15C>T
|
rs774567553
|
0.00003
|
NM_000350.3(ABCA4):c.1937+1G>A
|
rs61752401
|
0.00003
|
NM_000350.3(ABCA4):c.2147C>T (p.Thr716Met)
|
rs61749426
|
0.00003
|
NM_000350.3(ABCA4):c.2311A>T (p.Thr771Ser)
|
rs758090662
|
0.00003
|
NM_000350.3(ABCA4):c.2432G>A (p.Arg811His)
|
rs368016280
|
0.00003
|
NM_000350.3(ABCA4):c.2692G>A (p.Glu898Lys)
|
rs61749441
|
0.00003
|
NM_000350.3(ABCA4):c.3305A>G (p.Asp1102Gly)
|
rs143689372
|
0.00003
|
NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His)
|
rs61750121
|
0.00003
|
NM_000350.3(ABCA4):c.3328+5C>G
|
rs1046246251
|
0.00003
|
NM_000350.3(ABCA4):c.33C>T (p.Leu11=)
|
rs1046418468
|
0.00003
|
NM_000350.3(ABCA4):c.3481C>T (p.Arg1161Cys)
|
rs553776104
|
0.00003
|
NM_000350.3(ABCA4):c.3486G>A (p.Lys1162=)
|
rs544767615
|
0.00003
|
NM_000350.3(ABCA4):c.3561G>A (p.Thr1187=)
|
rs138761163
|
0.00003
|
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)
|
rs138359497
|
0.00003
|
NM_000350.3(ABCA4):c.3975G>A (p.Pro1325=)
|
rs146548044
|
0.00003
|
NM_000350.3(ABCA4):c.4008G>A (p.Glu1336=)
|
rs772961093
|
0.00003
|
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys)
|
rs62642573
|
0.00003
|
NM_000350.3(ABCA4):c.4327C>T (p.Arg1443Cys)
|
rs533422156
|
0.00003
|
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)
|
rs61750142
|
0.00003
|
NM_000350.3(ABCA4):c.4471A>G (p.Ser1491Gly)
|
rs1157937249
|
0.00003
|
NM_000350.3(ABCA4):c.4509C>T (p.Pro1503=)
|
rs886988868
|
0.00003
|
NM_000350.3(ABCA4):c.4524C>A (p.Gly1508=)
|
rs748388032
|
0.00003
|
NM_000350.3(ABCA4):c.4539+2001G>A
|
rs1457937638
|
0.00003
|
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn)
|
rs61750564
|
0.00003
|
NM_000350.3(ABCA4):c.5313-19G>C
|
rs767779797
|
0.00003
|
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)
|
rs61751406
|
0.00003
|
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp)
|
rs61753029
|
0.00003
|
NM_000350.3(ABCA4):c.571-5T>G
|
rs200013776
|
0.00003
|
NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met)
|
rs61753032
|
0.00003
|
NM_000350.3(ABCA4):c.5791G>A (p.Gly1931Ser)
|
rs757462382
|
0.00003
|
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)
|
rs61753033
|
0.00003
|
NM_000350.3(ABCA4):c.5824G>C (p.Glu1942Gln)
|
rs760353830
|
0.00003
|
NM_000350.3(ABCA4):c.5868C>T (p.Asp1956=)
|
rs62642567
|
0.00003
|
NM_000350.3(ABCA4):c.6054T>G (p.Pro2018=)
|
rs768654199
|
0.00003
|
NM_000350.3(ABCA4):c.6147+8A>G
|
rs537690017
|
0.00003
|
NM_000350.3(ABCA4):c.6189C>T (p.Tyr2063=)
|
rs534179486
|
0.00003
|
NM_000350.3(ABCA4):c.6387-20T>G
|
rs929768274
|
0.00003
|
NM_000350.3(ABCA4):c.6424A>G (p.Ile2142Val)
|
rs769683820
|
0.00003
|
NM_000350.3(ABCA4):c.6439G>A (p.Ala2147Thr)
|
rs966835207
|
0.00003
|
NM_000350.3(ABCA4):c.646T>C (p.Phe216Leu)
|
rs1320363264
|
0.00003
|
NM_000350.3(ABCA4):c.6484G>A (p.Gly2162Arg)
|
rs545397722
|
0.00003
|
NM_000350.3(ABCA4):c.6573G>A (p.Gly2191=)
|
rs940769390
|
0.00003
|
NM_000350.3(ABCA4):c.671C>T (p.Thr224Met)
|
rs373540612
|
0.00003
|
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)
|
rs61748521
|
0.00003
|
NM_000350.3(ABCA4):c.6806G>A (p.Arg2269Gln)
|
rs202223056
|
0.00003
|
NM_000350.3(ABCA4):c.1007C>G (p.Ser336Cys)
|
rs61748547
|
0.00002
|
NM_000350.3(ABCA4):c.1054G>A (p.Asp352Asn)
|
rs577385550
|
0.00002
|
NM_000350.3(ABCA4):c.1227G>T (p.Arg409Ser)
|
rs267598778
|
0.00002
|
NM_000350.3(ABCA4):c.1480A>G (p.Met494Val)
|
rs377135053
|
0.00002
|
NM_000350.3(ABCA4):c.1492G>A (p.Asp498Asn)
|
rs750836609
|
0.00002
|
NM_000350.3(ABCA4):c.1538T>C (p.Val513Ala)
|
rs750393418
|
0.00002
|
NM_000350.3(ABCA4):c.1543C>A (p.Gln515Lys)
|
rs767631662
|
0.00002
|
NM_000350.3(ABCA4):c.1595C>T (p.Thr532Ile)
|
rs1023123094
|
0.00002
|
NM_000350.3(ABCA4):c.1615C>G (p.Leu539Val)
|
rs748615703
|
0.00002
|
NM_000350.3(ABCA4):c.1647C>T (p.Ala549=)
|
rs149270496
|
0.00002
|
NM_000350.3(ABCA4):c.1745A>G (p.Asn582Ser)
|
rs368362755
|
0.00002
|
NM_000350.3(ABCA4):c.1773T>A (p.Ser591=)
|
rs779659025
|
0.00002
|
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)
|
rs55732384
|
0.00002
|
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)
|
rs61749409
|
0.00002
|
NM_000350.3(ABCA4):c.1833G>T (p.Leu611=)
|
rs774263519
|
0.00002
|
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)
|
rs145961131
|
0.00002
|
NM_000350.3(ABCA4):c.1962T>C (p.Cys654=)
|
rs976467572
|
0.00002
|
NM_000350.3(ABCA4):c.2126C>T (p.Ser709Leu)
|
rs374152623
|
0.00002
|
NM_000350.3(ABCA4):c.2304C>G (p.Ile768Met)
|
rs946594091
|
0.00002
|
NM_000350.3(ABCA4):c.2340C>T (p.Phe780=)
|
rs772140318
|
0.00002
|
NM_000350.3(ABCA4):c.239C>T (p.Pro80Leu)
|
rs1256178077
|
0.00002
|
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp)
|
rs61749446
|
0.00002
|
NM_000350.3(ABCA4):c.2862C>T (p.Tyr954=)
|
rs757870374
|
0.00002
|
NM_000350.3(ABCA4):c.2932G>A (p.Gly978Ser)
|
rs61749452
|
0.00002
|
NM_000350.3(ABCA4):c.303-18G>A
|
rs1388384690
|
0.00002
|
NM_000350.3(ABCA4):c.303-3C>T
|
rs777945195
|
0.00002
|
NM_000350.3(ABCA4):c.3050+5G>A
|
rs61751262
|
0.00002
|
NM_000350.3(ABCA4):c.3050+6C>T
|
rs759668436
|
0.00002
|
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)
|
rs201855602
|
0.00002
|
NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=)
|
rs886046565
|
0.00002
|
NM_000350.3(ABCA4):c.3291A>G (p.Arg1097=)
|
rs61750118
|
0.00002
|
NM_000350.3(ABCA4):c.3298A>G (p.Ile1100Val)
|
rs572604704
|
0.00002
|
NM_000350.3(ABCA4):c.3312C>T (p.Leu1104=)
|
rs755930166
|
0.00002
|
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)
|
rs61751399
|
0.00002
|
NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys)
|
rs779426136
|
0.00002
|
NM_000350.3(ABCA4):c.3449G>A (p.Cys1150Tyr)
|
rs375783686
|
0.00002
|
NM_000350.3(ABCA4):c.3523-12C>T
|
rs61754037
|
0.00002
|
NM_000350.3(ABCA4):c.3540G>A (p.Ser1180=)
|
rs767212006
|
0.00002
|
NM_000350.3(ABCA4):c.3603G>A (p.Leu1201=)
|
rs368951547
|
0.00002
|
NM_000350.3(ABCA4):c.371G>A (p.Arg124His)
|
rs769541140
|
0.00002
|
NM_000350.3(ABCA4):c.3867C>T (p.Gly1289=)
|
rs573418899
|
0.00002
|
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter)
|
rs61752427
|
0.00002
|
NM_000350.3(ABCA4):c.3971C>T (p.Ala1324Val)
|
rs369361520
|
0.00002
|
NM_000350.3(ABCA4):c.3972G>A (p.Ala1324=)
|
rs200965081
|
0.00002
|
NM_000350.3(ABCA4):c.4062T>C (p.His1354=)
|
rs757230249
|
0.00002
|
NM_000350.3(ABCA4):c.4100T>C (p.Ile1367Thr)
|
rs1054210292
|
0.00002
|
NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=)
|
rs139109485
|
0.00002
|
NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=)
|
rs763857670
|
0.00002
|
NM_000350.3(ABCA4):c.4248C>A (p.Phe1416Leu)
|
rs1480701186
|
0.00002
|
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr)
|
rs142673376
|
0.00002
|
NM_000350.3(ABCA4):c.4352+9C>T
|
rs754601788
|
0.00002
|
NM_000350.3(ABCA4):c.4402C>G (p.Pro1468Ala)
|
rs775082837
|
0.00002
|
NM_000350.3(ABCA4):c.4530G>A (p.Pro1510=)
|
rs750519678
|
0.00002
|
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg)
|
rs281865402
|
0.00002
|
NM_000350.3(ABCA4):c.4550G>A (p.Arg1517His)
|
rs201523394
|
0.00002
|
NM_000350.3(ABCA4):c.47C>T (p.Thr16Ile)
|
rs949028237
|
0.00002
|
NM_000350.3(ABCA4):c.5051T>A (p.Ile1684Asn)
|
rs769711425
|
0.00002
|
NM_000350.3(ABCA4):c.5069T>C (p.Met1690Thr)
|
rs1333985048
|
0.00002
|
NM_000350.3(ABCA4):c.5214T>C (p.Ser1738=)
|
rs772236881
|
0.00002
|
NM_000350.3(ABCA4):c.5321T>C (p.Val1774Ala)
|
rs927897822
|
0.00002
|
NM_000350.3(ABCA4):c.5459G>A (p.Arg1820Gln)
|
rs62646875
|
0.00002
|
NM_000350.3(ABCA4):c.5585-6G>A
|
rs767919716
|
0.00002
|
NM_000350.3(ABCA4):c.571-3C>A
|
rs754918602
|
0.00002
|
NM_000350.3(ABCA4):c.5714+12C>G
|
rs756818076
|
0.00002
|
NM_000350.3(ABCA4):c.587C>T (p.Pro196Leu)
|
rs769176363
|
0.00002
|
NM_000350.3(ABCA4):c.5928C>T (p.Ala1976=)
|
rs376767237
|
0.00002
|
NM_000350.3(ABCA4):c.5966C>T (p.Thr1989Ile)
|
rs766811018
|
0.00002
|
NM_000350.3(ABCA4):c.6005+18C>T
|
rs768742562
|
0.00002
|
NM_000350.3(ABCA4):c.6109G>A (p.Ala2037Thr)
|
rs756555985
|
0.00002
|
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln)
|
rs767729255
|
0.00002
|
NM_000350.3(ABCA4):c.6283-12T>G
|
rs1480633686
|
0.00002
|
NM_000350.3(ABCA4):c.6283-5C>G
|
rs775972084
|
0.00002
|
NM_000350.3(ABCA4):c.6496A>G (p.Ile2166Val)
|
rs200658526
|
0.00002
|
NM_000350.3(ABCA4):c.6528C>T (p.Asp2176=)
|
rs767917933
|
0.00002
|
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr)
|
rs61748537
|
0.00002
|
NM_000350.3(ABCA4):c.6579C>T (p.Phe2193=)
|
rs763108716
|
0.00002
|
NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val)
|
rs886044763
|
0.00002
|
NM_000350.3(ABCA4):c.6708C>G (p.Val2236=)
|
rs762561820
|
0.00002
|
NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys)
|
rs62645942
|
0.00002
|
NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys)
|
rs62645952
|
0.00002
|
NM_000350.3(ABCA4):c.768+14T>A
|
rs368450540
|
0.00002
|
NM_000350.3(ABCA4):c.839T>C (p.Met280Thr)
|
rs768480500
|
0.00002
|
NM_000350.3(ABCA4):c.869G>A (p.Arg290Gln)
|
rs959119236
|
0.00002
|
NM_000350.3(ABCA4):c.87C>T (p.Leu29=)
|
rs752224099
|
0.00002
|
NM_000350.3(ABCA4):c.885del (p.Leu296fs)
|
rs764759172
|
0.00002
|
NM_000350.3(ABCA4):c.88G>A (p.Val30Met)
|
rs202127496
|
0.00002
|
NM_000350.3(ABCA4):c.945G>A (p.Leu315=)
|
rs764002833
|
0.00002
|
NM_000350.3(ABCA4):c.1002G>A (p.Val334=)
|
rs751548532
|
0.00001
|
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly)
|
rs61751420
|
0.00001
|
NM_000350.3(ABCA4):c.1037A>C (p.Lys346Thr)
|
rs61752389
|
0.00001
|
NM_000350.3(ABCA4):c.1082C>A (p.Ser361Tyr)
|
rs748487419
|
0.00001
|
NM_000350.3(ABCA4):c.1095A>G (p.Arg365=)
|
rs1244319420
|
0.00001
|
NM_000350.3(ABCA4):c.1097C>T (p.Thr366Ile)
|
rs749494322
|
0.00001
|
NM_000350.3(ABCA4):c.1099+12G>T
|
rs756258615
|
0.00001
|
NM_000350.3(ABCA4):c.1100-8C>T
|
rs749728129
|
0.00001
|
NM_000350.3(ABCA4):c.1120A>T (p.Ile374Phe)
|
rs1661630042
|
0.00001
|
NM_000350.3(ABCA4):c.1157C>T (p.Ala386Val)
|
rs767034759
|
0.00001
|
NM_000350.3(ABCA4):c.1167G>A (p.Ala389=)
|
rs372704965
|
0.00001
|
NM_000350.3(ABCA4):c.118A>T (p.Ile40Phe)
|
rs761112891
|
0.00001
|
NM_000350.3(ABCA4):c.1192A>G (p.Ile398Val)
|
rs776798532
|
0.00001
|
NM_000350.3(ABCA4):c.1214C>G (p.Pro405Arg)
|
rs749008843
|
0.00001
|
NM_000350.3(ABCA4):c.1239+1G>C
|
rs765707028
|
0.00001
|
NM_000350.3(ABCA4):c.1239+9C>G
|
rs776985109
|
0.00001
|
NM_000350.3(ABCA4):c.123G>A (p.Trp41Ter)
|
rs748357067
|
0.00001
|
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser)
|
rs794726979
|
0.00001
|
NM_000350.3(ABCA4):c.1263G>A (p.Leu421=)
|
rs568781940
|
0.00001
|
NM_000350.3(ABCA4):c.1278G>A (p.Lys426=)
|
rs1661603153
|
0.00001
|
NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter)
|
rs886044725
|
0.00001
|
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)
|
rs61748552
|
0.00001
|
NM_000350.3(ABCA4):c.1342A>G (p.Met448Val)
|
rs1169850759
|
0.00001
|
NM_000350.3(ABCA4):c.1364T>A (p.Leu455Gln)
|
rs1366296798
|
0.00001
|
NM_000350.3(ABCA4):c.1365G>A (p.Leu455=)
|
rs759398868
|
0.00001
|
NM_000350.3(ABCA4):c.1370A>G (p.Asn457Ser)
|
rs1661579247
|
0.00001
|
NM_000350.3(ABCA4):c.1449C>T (p.Tyr483=)
|
rs1385222340
|
0.00001
|
NM_000350.3(ABCA4):c.1479C>T (p.Asp493=)
|
rs764364208
|
0.00001
|
NM_000350.3(ABCA4):c.1524C>A (p.Arg508=)
|
rs777945079
|
0.00001
|
NM_000350.3(ABCA4):c.1528C>A (p.Leu510Ile)
|
rs758584771
|
0.00001
|
NM_000350.3(ABCA4):c.1529T>C (p.Leu510Pro)
|
rs886039299
|
0.00001
|
NM_000350.3(ABCA4):c.154C>G (p.His52Asp)
|
rs941059389
|
0.00001
|
NM_000350.3(ABCA4):c.1569T>G (p.Asp523Glu)
|
rs62646868
|
0.00001
|
NM_000350.3(ABCA4):c.1586A>G (p.Asn529Ser)
|
rs764995626
|
0.00001
|
NM_000350.3(ABCA4):c.1590T>C (p.Asp530=)
|
rs759022571
|
0.00001
|
NM_000350.3(ABCA4):c.161-1G>C
|
rs1231942062
|
0.00001
|
NM_000350.3(ABCA4):c.161-9G>C
|
rs1662606961
|
0.00001
|
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)
|
rs61748558
|
0.00001
|
NM_000350.3(ABCA4):c.1659C>T (p.Phe553=)
|
rs61752396
|
0.00001
|
NM_000350.3(ABCA4):c.1660C>T (p.Pro554Ser)
|
rs1380991789
|
0.00001
|
NM_000350.3(ABCA4):c.1688T>A (p.Leu563Gln)
|
rs754652550
|
0.00001
|
NM_000350.3(ABCA4):c.1694C>A (p.Pro565His)
|
rs765891059
|
0.00001
|
NM_000350.3(ABCA4):c.1726G>C (p.Asp576His)
|
rs374224955
|
0.00001
|
NM_000350.3(ABCA4):c.1761-2A>G
|
rs754765164
|
0.00001
|
NM_000350.3(ABCA4):c.1791C>T (p.Pro597=)
|
rs749863229
|
0.00001
|
NM_000350.3(ABCA4):c.1817G>A (p.Gly606Asp)
|
rs147932486
|
0.00001
|
NM_000350.3(ABCA4):c.1821G>A (p.Gly607=)
|
rs201059645
|
0.00001
|
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile)
|
rs61752398
|
0.00001
|
NM_000350.3(ABCA4):c.183G>C (p.Met61Ile)
|
rs750987349
|
0.00001
|
NM_000350.3(ABCA4):c.184C>T (p.Pro62Ser)
|
rs1355238974
|
0.00001
|
NM_000350.3(ABCA4):c.1850A>G (p.Gln617Arg)
|
rs769283184
|
0.00001
|
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu)
|
rs1057520211
|
0.00001
|
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)
|
rs61749414
|
0.00001
|
NM_000350.3(ABCA4):c.1917C>T (p.Tyr639=)
|
rs61749415
|
0.00001
|
NM_000350.3(ABCA4):c.1938-1G>A
|
rs61751263
|
0.00001
|
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)
|
rs61749420
|
0.00001
|
NM_000350.3(ABCA4):c.1986A>G (p.Ala662=)
|
rs564272715
|
0.00001
|
NM_000350.3(ABCA4):c.1A>G (p.Met1Val)
|
rs201738997
|
0.00001
|
NM_000350.3(ABCA4):c.2014A>G (p.Lys672Glu)
|
rs377508857
|
0.00001
|
NM_000350.3(ABCA4):c.2020A>G (p.Ile674Val)
|
rs759410405
|
0.00001
|
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)
|
rs575453437
|
0.00001
|
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)
|
rs62654397
|
0.00001
|
NM_000350.3(ABCA4):c.2042G>A (p.Arg681Gln)
|
rs761380652
|
0.00001
|
NM_000350.3(ABCA4):c.204G>A (p.Pro68=)
|
rs201725352
|
0.00001
|
NM_000350.3(ABCA4):c.2067G>A (p.Gln689=)
|
rs1198924706
|
0.00001
|
NM_000350.3(ABCA4):c.2106G>A (p.Leu702=)
|
rs781359355
|
0.00001
|
NM_000350.3(ABCA4):c.2145G>C (p.Leu715=)
|
rs1661093718
|
0.00001
|
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)
|
rs61751412
|
0.00001
|
NM_000350.3(ABCA4):c.2158A>G (p.Met720Val)
|
rs762593392
|
0.00001
|
NM_000350.3(ABCA4):c.2160+1G>T
|
rs61749427
|
0.00001
|
NM_000350.3(ABCA4):c.2160+9A>G
|
rs1447782860
|
0.00001
|
NM_000350.3(ABCA4):c.2161-10T>C
|
rs1368951863
|
0.00001
|
NM_000350.3(ABCA4):c.2161-6T>C
|
rs998974599
|
0.00001
|
NM_000350.3(ABCA4):c.2165G>C (p.Gly722Ala)
|
rs1660996321
|
0.00001
|
NM_000350.3(ABCA4):c.2236A>G (p.Met746Val)
|
rs1293462383
|
0.00001
|
NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly)
|
rs61748526
|
0.00001
|
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr)
|
rs61749428
|
0.00001
|
NM_000350.3(ABCA4):c.2345G>A (p.Trp782Ter)
|
rs911580078
|
0.00001
|
NM_000350.3(ABCA4):c.2396C>T (p.Pro799Leu)
|
rs542919944
|
0.00001
|
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr)
|
rs374410829
|
0.00001
|
NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg)
|
rs61749433
|
0.00001
|
NM_000350.3(ABCA4):c.2469C>T (p.Asn823=)
|
rs927791164
|
0.00001
|
NM_000350.3(ABCA4):c.2470A>G (p.Ile824Val)
|
rs1660942758
|
0.00001
|
NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs)
|
rs1005271380
|
0.00001
|
NM_000350.3(ABCA4):c.2480G>C (p.Ser827Thr)
|
rs144018419
|
0.00001
|
NM_000350.3(ABCA4):c.2489A>G (p.Glu830Gly)
|
rs768241038
|
0.00001
|
NM_000350.3(ABCA4):c.2497G>A (p.Glu833Lys)
|
rs755640766
|
0.00001
|
NM_000350.3(ABCA4):c.2530C>T (p.Leu844Phe)
|
rs765425569
|
0.00001
|
NM_000350.3(ABCA4):c.2559C>T (p.Leu853=)
|
rs767396224
|
0.00001
|
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)
|
rs61749437
|
0.00001
|
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter)
|
rs61752406
|
0.00001
|
NM_000350.3(ABCA4):c.2587+12C>T
|
rs780578275
|
0.00001
|
NM_000350.3(ABCA4):c.2587+18T>C
|
rs1233825016
|
0.00001
|
NM_000350.3(ABCA4):c.2608C>T (p.Pro870Ser)
|
rs867875828
|
0.00001
|
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu)
|
rs746566873
|
0.00001
|
NM_000350.3(ABCA4):c.2617T>C (p.Phe873Leu)
|
rs62642570
|
0.00001
|
NM_000350.3(ABCA4):c.2647G>A (p.Gly883Ser)
|
rs750311446
|
0.00001
|
NM_000350.3(ABCA4):c.2653+14A>T
|
rs1238597969
|
0.00001
|
NM_000350.3(ABCA4):c.2654-6G>A
|
rs759220318
|
0.00001
|
NM_000350.3(ABCA4):c.2654-8T>G
|
rs765263670
|
0.00001
|
NM_000350.3(ABCA4):c.2654-9T>C
|
rs1295406818
|
0.00001
|
NM_000350.3(ABCA4):c.2712G>A (p.Thr904=)
|
rs546067089
|
0.00001
|
NM_000350.3(ABCA4):c.2716G>A (p.Asp906Asn)
|
rs1406771874
|
0.00001
|
NM_000350.3(ABCA4):c.2742C>T (p.His914=)
|
rs1362746093
|
0.00001
|
NM_000350.3(ABCA4):c.2758C>T (p.Arg920Cys)
|
rs533451778
|
0.00001
|
NM_000350.3(ABCA4):c.2779C>T (p.Pro927Ser)
|
rs985690206
|
0.00001
|
NM_000350.3(ABCA4):c.2833G>T (p.Ala945Ser)
|
rs150616268
|
0.00001
|
NM_000350.3(ABCA4):c.2841C>T (p.Asp947=)
|
rs200551567
|
0.00001
|
NM_000350.3(ABCA4):c.2842C>T (p.Arg948Cys)
|
rs751222829
|
0.00001
|
NM_000350.3(ABCA4):c.2870A>G (p.Gln957Arg)
|
rs61749448
|
0.00001
|
NM_000350.3(ABCA4):c.2884C>T (p.Leu962=)
|
rs774598114
|
0.00001
|
NM_000350.3(ABCA4):c.290A>G (p.Tyr97Cys)
|
rs755691060
|
0.00001
|
NM_000350.3(ABCA4):c.2919-10T>C
|
rs886044733
|
0.00001
|
NM_000350.3(ABCA4):c.2920T>C (p.Ser974Pro)
|
rs281865400
|
0.00001
|
NM_000350.3(ABCA4):c.2942C>T (p.Pro981Leu)
|
rs147826775
|
0.00001
|
NM_000350.3(ABCA4):c.2965G>A (p.Val989Ile)
|
rs552307838
|
0.00001
|
NM_000350.3(ABCA4):c.2973A>G (p.Gly991=)
|
rs561658869
|
0.00001
|
NM_000350.3(ABCA4):c.2980A>G (p.Ile994Val)
|
rs546606452
|
0.00001
|
NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro)
|
rs61748530
|
0.00001
|
NM_000350.3(ABCA4):c.2992C>T (p.Leu998=)
|
rs62642566
|
0.00001
|
NM_000350.3(ABCA4):c.3004C>T (p.Arg1002Trp)
|
rs757678409
|
0.00001
|
NM_000350.3(ABCA4):c.3005G>A (p.Arg1002Gln)
|
rs752000268
|
0.00001
|
NM_000350.3(ABCA4):c.3008A>G (p.Gln1003Arg)
|
rs764324152
|
0.00001
|
NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg)
|
rs61749456
|
0.00001
|
NM_000350.3(ABCA4):c.3059T>A (p.Val1020Glu)
|
rs112300381
|
0.00001
|
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)
|
rs61749459
|
0.00001
|
NM_000350.3(ABCA4):c.306G>T (p.Leu102Phe)
|
rs1054538871
|
0.00001
|
NM_000350.3(ABCA4):c.3094G>C (p.Gly1032Arg)
|
rs771495707
|
0.00001
|
NM_000350.3(ABCA4):c.3096A>G (p.Gly1032=)
|
rs778400379
|
0.00001
|
NM_000350.3(ABCA4):c.3097A>G (p.Lys1033Glu)
|
rs771234031
|
0.00001
|
NM_000350.3(ABCA4):c.3103C>G (p.Gln1035Glu)
|
rs779067729
|
0.00001
|
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)
|
rs61750061
|
0.00001
|
NM_000350.3(ABCA4):c.3149G>A (p.Gly1050Asp)
|
rs61750062
|
0.00001
|
NM_000350.3(ABCA4):c.3163C>T (p.Arg1055Trp)
|
rs61752412
|
0.00001
|
NM_000350.3(ABCA4):c.3164G>A (p.Arg1055Gln)
|
rs187071406
|
0.00001
|
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp)
|
rs886039300
|
0.00001
|
NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter)
|
rs765429911
|
0.00001
|
NM_000350.3(ABCA4):c.3204A>G (p.Arg1068=)
|
rs749704079
|
0.00001
|
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg)
|
rs775661924
|
0.00001
|
NM_000350.3(ABCA4):c.3211T>C (p.Ser1071Pro)
|
rs781332563
|
0.00001
|
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu)
|
rs61750065
|
0.00001
|
NM_000350.3(ABCA4):c.3218C>T (p.Ala1073Val)
|
rs754788289
|
0.00001
|
NM_000350.3(ABCA4):c.3246G>A (p.Val1082=)
|
rs1288056889
|
0.00001
|
NM_000350.3(ABCA4):c.3258C>T (p.Asp1086=)
|
rs779523100
|
0.00001
|
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)
|
rs61751398
|
0.00001
|
NM_000350.3(ABCA4):c.3260A>G (p.Glu1087Gly)
|
rs1278743459
|
0.00001
|
NM_000350.3(ABCA4):c.3293G>A (p.Arg1098His)
|
rs891533398
|
0.00001
|
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)
|
rs62645946
|
0.00001
|
NM_000350.3(ABCA4):c.3318G>A (p.Lys1106=)
|
rs756731889
|
0.00001
|
NM_000350.3(ABCA4):c.3328+13G>T
|
rs1268934159
|
0.00001
|
NM_000350.3(ABCA4):c.3329-2A>T
|
rs1324958803
|
0.00001
|
NM_000350.3(ABCA4):c.3335C>A (p.Thr1112Asn)
|
rs61750122
|
0.00001
|
NM_000350.3(ABCA4):c.3337A>G (p.Ile1113Val)
|
rs1385693763
|
0.00001
|
NM_000350.3(ABCA4):c.3344T>C (p.Met1115Thr)
|
rs376947008
|
0.00001
|
NM_000350.3(ABCA4):c.3352C>T (p.His1118Tyr)
|
rs369440533
|
0.00001
|
NM_000350.3(ABCA4):c.3372C>G (p.Asp1124Glu)
|
rs746647738
|
0.00001
|
NM_000350.3(ABCA4):c.3384C>G (p.Asp1128Glu)
|
rs369922919
|
0.00001
|
NM_000350.3(ABCA4):c.3387C>T (p.Arg1129=)
|
rs1179486125
|
0.00001
|
NM_000350.3(ABCA4):c.3403C>T (p.Gln1135Ter)
|
rs1057517701
|
0.00001
|
NM_000350.3(ABCA4):c.3409A>G (p.Arg1137Gly)
|
rs765328414
|
0.00001
|
NM_000350.3(ABCA4):c.3413T>C (p.Leu1138Pro)
|
rs1287053724
|
0.00001
|
NM_000350.3(ABCA4):c.3428C>A (p.Thr1143Asn)
|
rs767894041
|
0.00001
|
NM_000350.3(ABCA4):c.3430C>T (p.Pro1144Ser)
|
rs1047230065
|
0.00001
|
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)
|
rs768278935
|
0.00001
|
NM_000350.3(ABCA4):c.3523-14T>A
|
rs562525380
|
0.00001
|
NM_000350.3(ABCA4):c.3560C>T (p.Thr1187Met)
|
rs1266156413
|
0.00001
|
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=)
|
rs187965758
|
0.00001
|
NM_000350.3(ABCA4):c.3577G>A (p.Asp1193Asn)
|
rs777239290
|
0.00001
|
NM_000350.3(ABCA4):c.36G>C (p.Trp12Cys)
|
rs761209432
|
0.00001
|
NM_000350.3(ABCA4):c.3868G>A (p.Ala1290Thr)
|
rs143576497
|
0.00001
|
NM_000350.3(ABCA4):c.3872A>T (p.Gln1291Leu)
|
rs1660220944
|
0.00001
|
NM_000350.3(ABCA4):c.3874C>T (p.Gln1292Ter)
|
rs61752426
|
0.00001
|
NM_000350.3(ABCA4):c.3900A>G (p.Arg1300=)
|
rs886044739
|
0.00001
|
NM_000350.3(ABCA4):c.3913G>A (p.Gly1305Ser)
|
rs1660219342
|
0.00001
|
NM_000350.3(ABCA4):c.3914G>A (p.Gly1305Asp)
|
rs750473426
|
0.00001
|
NM_000350.3(ABCA4):c.3953A>G (p.Asn1318Ser)
|
rs960704174
|
0.00001
|
NM_000350.3(ABCA4):c.3962C>T (p.Ser1321Phe)
|
rs779524552
|
0.00001
|
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter)
|
rs61752428
|
0.00001
|
NM_000350.3(ABCA4):c.4001C>T (p.Pro1334Leu)
|
rs770774620
|
0.00001
|
NM_000350.3(ABCA4):c.4022G>A (p.Gly1341Asp)
|
rs779248561
|
0.00001
|
NM_000350.3(ABCA4):c.4037C>T (p.Thr1346Met)
|
rs780550919
|
0.00001
|
NM_000350.3(ABCA4):c.4038G>A (p.Thr1346=)
|
rs142418039
|
0.00001
|
NM_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr)
|
rs754899711
|
0.00001
|
NM_000350.3(ABCA4):c.4071G>A (p.Ala1357=)
|
rs766134402
|
0.00001
|
NM_000350.3(ABCA4):c.4102C>G (p.Arg1368Gly)
|
rs1183074086
|
0.00001
|
NM_000350.3(ABCA4):c.4103G>A (p.Arg1368His)
|
rs761163530
|
0.00001
|
NM_000350.3(ABCA4):c.4124C>T (p.Ala1375Val)
|
rs1267585230
|
0.00001
|
NM_000350.3(ABCA4):c.4128+15C>T
|
rs370303729
|
0.00001
|
NM_000350.3(ABCA4):c.4129-16G>A
|
rs762600499
|
0.00001
|
NM_000350.3(ABCA4):c.4177G>A (p.Val1393Ile)
|
rs1045163391
|
0.00001
|
NM_000350.3(ABCA4):c.418C>T (p.Arg140Trp)
|
rs1173809441
|
0.00001
|
NM_000350.3(ABCA4):c.419G>A (p.Arg140Gln)
|
rs369105023
|
0.00001
|
NM_000350.3(ABCA4):c.4218C>T (p.His1406=)
|
rs1307696264
|
0.00001
|
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)
|
rs61750135
|
0.00001
|
NM_000350.3(ABCA4):c.4230T>C (p.Tyr1410=)
|
rs748170407
|
0.00001
|
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)
|
rs61750137
|
0.00001
|
NM_000350.3(ABCA4):c.423T>A (p.Thr141=)
|
rs753034126
|
0.00001
|
NM_000350.3(ABCA4):c.4253+4C>T
|
rs61754044
|
0.00001
|
NM_000350.3(ABCA4):c.4253+5G>A
|
rs61750138
|
0.00001
|
NM_000350.3(ABCA4):c.4253+7G>A
|
rs369267759
|
0.00001
|
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)
|
rs62646860
|
0.00001
|
NM_000350.3(ABCA4):c.4312C>G (p.Pro1438Ala)
|
rs1046550021
|
0.00001
|
NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys)
|
rs762150575
|
0.00001
|
NM_000350.3(ABCA4):c.4329C>T (p.Arg1443=)
|
rs374344839
|
0.00001
|
NM_000350.3(ABCA4):c.4352+17C>A
|
rs1660166008
|
0.00001
|
NM_000350.3(ABCA4):c.4352+1G>A
|
rs200967229
|
0.00001
|
NM_000350.3(ABCA4):c.4353-10C>A
|
rs964712135
|
0.00001
|
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)
|
rs758835368
|
0.00001
|
NM_000350.3(ABCA4):c.4378C>T (p.Pro1460Ser)
|
rs373181448
|
0.00001
|
NM_000350.3(ABCA4):c.4405A>G (p.Asn1469Asp)
|
rs769441167
|
0.00001
|
NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=)
|
rs750526487
|
0.00001
|
NM_000350.3(ABCA4):c.4428G>A (p.Lys1476=)
|
rs778369394
|
0.00001
|
NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter)
|
rs61752434
|
0.00001
|
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)
|
rs61750146
|
0.00001
|
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe)
|
rs61750147
|
0.00001
|
NM_000350.3(ABCA4):c.4501G>T (p.Glu1501Ter)
|
rs888059763
|
0.00001
|
NM_000350.3(ABCA4):c.4506C>T (p.Cys1502=)
|
rs61750149
|
0.00001
|
NM_000350.3(ABCA4):c.4510G>A (p.Glu1504Lys)
|
rs190370456
|
0.00001
|
NM_000350.3(ABCA4):c.4516G>A (p.Ala1506Thr)
|
rs1243394849
|
0.00001
|
NM_000350.3(ABCA4):c.4518C>T (p.Ala1506=)
|
rs146011912
|
0.00001
|
NM_000350.3(ABCA4):c.4529C>T (p.Pro1510Leu)
|
rs756106154
|
0.00001
|
NM_000350.3(ABCA4):c.4532C>A (p.Pro1511His)
|
rs886046564
|
0.00001
|
NM_000350.3(ABCA4):c.4536C>T (p.Pro1512=)
|
rs764982444
|
0.00001
|
NM_000350.3(ABCA4):c.4539+40C>T
|
rs61754050
|
0.00001
|
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)
|
rs62646861
|
0.00001
|
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=)
|
rs774957381
|
0.00001
|
NM_000350.3(ABCA4):c.4593C>T (p.Ser1531=)
|
rs746070443
|
0.00001
|
NM_000350.3(ABCA4):c.4613A>T (p.Tyr1538Phe)
|
rs1427105205
|
0.00001
|
NM_000350.3(ABCA4):c.463G>A (p.Asp155Asn)
|
rs1570426424
|
0.00001
|
NM_000350.3(ABCA4):c.4667+2T>C
|
rs61752436
|
0.00001
|
NM_000350.3(ABCA4):c.4667+6A>T
|
rs760131250
|
0.00001
|
NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr)
|
rs1385119665
|
0.00001
|
NM_000350.3(ABCA4):c.471G>A (p.Leu157=)
|
rs890284134
|
0.00001
|
NM_000350.3(ABCA4):c.5024C>G (p.Thr1675Ser)
|
rs375156009
|
0.00001
|
NM_000350.3(ABCA4):c.5032G>A (p.Val1678Met)
|
rs1659845637
|
0.00001
|
NM_000350.3(ABCA4):c.5070G>A (p.Met1690Ile)
|
rs1659843366
|
0.00001
|
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)
|
rs771038310
|
0.00001
|
NM_000350.3(ABCA4):c.5128A>C (p.Lys1710Gln)
|
rs778747291
|
0.00001
|
NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys)
|
rs374343397
|
0.00001
|
NM_000350.3(ABCA4):c.5138A>G (p.Gln1713Arg)
|
rs755826006
|
0.00001
|
NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro)
|
rs61750567
|
0.00001
|
NM_000350.3(ABCA4):c.5196+1G>A
|
rs61751377
|
0.00001
|
NM_000350.3(ABCA4):c.519G>A (p.Leu173=)
|
rs1165649536
|
0.00001
|
NM_000350.3(ABCA4):c.51G>A (p.Leu17=)
|
rs773812622
|
0.00001
|
NM_000350.3(ABCA4):c.5206T>C (p.Ser1736Pro)
|
rs61750568
|
0.00001
|
NM_000350.3(ABCA4):c.5209G>A (p.Val1737Met)
|
rs761017794
|
0.00001
|
NM_000350.3(ABCA4):c.5233A>G (p.Ile1745Val)
|
rs775593910
|
0.00001
|
NM_000350.3(ABCA4):c.5235C>G (p.Ile1745Met)
|
rs769668293
|
0.00001
|
NM_000350.3(ABCA4):c.5239A>G (p.Ile1747Val)
|
rs745658425
|
0.00001
|
NM_000350.3(ABCA4):c.525C>T (p.Asp175=)
|
rs1294826352
|
0.00001
|
NM_000350.3(ABCA4):c.5273A>G (p.Glu1758Gly)
|
rs779399010
|
0.00001
|
NM_000350.3(ABCA4):c.5312+1G>A
|
rs886044750
|
0.00001
|
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)
|
rs61750571
|
0.00001
|
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)
|
rs760549861
|
0.00001
|
NM_000350.3(ABCA4):c.5324T>A (p.Ile1775Asn)
|
rs771742619
|
0.00001
|
NM_000350.3(ABCA4):c.5327C>T (p.Pro1776Leu)
|
rs1553187939
|
0.00001
|
NM_000350.3(ABCA4):c.5337C>G (p.Tyr1779Ter)
|
rs61750573
|
0.00001
|
NM_000350.3(ABCA4):c.5361C>T (p.Val1787=)
|
rs757545714
|
0.00001
|
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val)
|
rs1188515677
|
0.00001
|
NM_000350.3(ABCA4):c.5385A>G (p.Leu1795=)
|
rs548112205
|
0.00001
|
NM_000350.3(ABCA4):c.5404A>G (p.Ile1802Val)
|
rs974596881
|
0.00001
|
NM_000350.3(ABCA4):c.5407G>A (p.Gly1803Ser)
|
rs755666756
|
0.00001
|
NM_000350.3(ABCA4):c.5409C>T (p.Gly1803=)
|
rs569608594
|
0.00001
|
NM_000350.3(ABCA4):c.5451G>A (p.Glu1817=)
|
rs1029950404
|
0.00001
|
NM_000350.3(ABCA4):c.5460+1G>T
|
rs61753030
|
0.00001
|
NM_000350.3(ABCA4):c.5462C>T (p.Thr1821Met)
|
rs774891564
|
0.00001
|
NM_000350.3(ABCA4):c.5463G>A (p.Thr1821=)
|
rs367857935
|
0.00001
|
NM_000350.3(ABCA4):c.5501T>C (p.Ile1834Thr)
|
rs748355733
|
0.00001
|
NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr)
|
rs61750575
|
0.00001
|
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro)
|
rs377311148
|
0.00001
|
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn)
|
rs371489809
|
0.00001
|
NM_000350.3(ABCA4):c.5578C>T (p.Arg1860Trp)
|
rs200849015
|
0.00001
|
NM_000350.3(ABCA4):c.5579G>A (p.Arg1860Gln)
|
rs761240030
|
0.00001
|
NM_000350.3(ABCA4):c.5585-12G>A
|
rs373314451
|
0.00001
|
NM_000350.3(ABCA4):c.5593C>T (p.His1865Tyr)
|
rs201707267
|
0.00001
|
NM_000350.3(ABCA4):c.560G>A (p.Arg187His)
|
rs202198282
|
0.00001
|
NM_000350.3(ABCA4):c.5618A>G (p.Asp1873Gly)
|
rs778550733
|
0.00001
|
NM_000350.3(ABCA4):c.5619C>T (p.Asp1873=)
|
rs748907485
|
0.00001
|
NM_000350.3(ABCA4):c.5648T>C (p.Val1883Ala)
|
rs1659524799
|
0.00001
|
NM_000350.3(ABCA4):c.564del (p.Glu189fs)
|
rs886044148
|
0.00001
|
NM_000350.3(ABCA4):c.5657G>A (p.Gly1886Glu)
|
rs62642579
|
0.00001
|
NM_000350.3(ABCA4):c.5659G>A (p.Val1887Met)
|
rs764320529
|
0.00001
|
NM_000350.3(ABCA4):c.5684T>C (p.Leu1895Pro)
|
rs1265846081
|
0.00001
|
NM_000350.3(ABCA4):c.5714+8C>T
|
rs769562108
|
0.00001
|
NM_000350.3(ABCA4):c.5721C>T (p.Ala1907=)
|
rs368502305
|
0.00001
|
NM_000350.3(ABCA4):c.5755G>T (p.Asp1919Tyr)
|
rs756324586
|
0.00001
|
NM_000350.3(ABCA4):c.5773A>G (p.Arg1925Gly)
|
rs757449019
|
0.00001
|
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile)
|
rs1208195953
|
0.00001
|
NM_000350.3(ABCA4):c.5792G>C (p.Gly1931Ala)
|
rs954069176
|
0.00001
|
NM_000350.3(ABCA4):c.5811C>T (p.Ile1937=)
|
rs759451313
|
0.00001
|
NM_000350.3(ABCA4):c.5818C>A (p.Leu1940Ile)
|
rs1659466058
|
0.00001
|
NM_000350.3(ABCA4):c.5836-12C>T
|
rs892377497
|
0.00001
|
NM_000350.3(ABCA4):c.5836-20G>A
|
rs760467492
|
0.00001
|
NM_000350.3(ABCA4):c.5836-3C>A
|
rs1064793013
|
0.00001
|
NM_000350.3(ABCA4):c.5878G>A (p.Val1960Ile)
|
rs1379929424
|
0.00001
|
NM_000350.3(ABCA4):c.588G>A (p.Pro196=)
|
rs763400973
|
0.00001
|
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)
|
rs61750639
|
0.00001
|
NM_000350.3(ABCA4):c.5955C>T (p.Leu1985=)
|
rs201545948
|
0.00001
|
NM_000350.3(ABCA4):c.599T>C (p.Leu200Pro)
|
rs1662215591
|
0.00001
|
NM_000350.3(ABCA4):c.6038A>G (p.Asn2013Ser)
|
rs774582273
|
0.00001
|
NM_000350.3(ABCA4):c.606C>T (p.Asp202=)
|
rs199745422
|
0.00001
|
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)
|
rs61751383
|
0.00001
|
NM_000350.3(ABCA4):c.610G>A (p.Ala204Thr)
|
rs754899561
|
0.00001
|
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)
|
rs61753038
|
0.00001
|
NM_000350.3(ABCA4):c.6122G>A (p.Gly2041Asp)
|
rs1462350577
|
0.00001
|
NM_000350.3(ABCA4):c.6146A>C (p.Lys2049Thr)
|
rs760481450
|
0.00001
|
NM_000350.3(ABCA4):c.6148-7T>A
|
rs1557759590
|
0.00001
|
NM_000350.3(ABCA4):c.6190G>A (p.Ala2064Thr)
|
rs61753040
|
0.00001
|
NM_000350.3(ABCA4):c.6208A>G (p.Thr2070Ala)
|
rs151212933
|
0.00001
|
NM_000350.3(ABCA4):c.6216T>C (p.Ser2072=)
|
rs758795465
|
0.00001
|
NM_000350.3(ABCA4):c.6230G>A (p.Arg2077Gln)
|
rs886044759
|
0.00001
|
NM_000350.3(ABCA4):c.6250G>A (p.Ala2084Thr)
|
rs1250914690
|
0.00001
|
NM_000350.3(ABCA4):c.6269C>T (p.Pro2090Leu)
|
rs533271864
|
0.00001
|
NM_000350.3(ABCA4):c.6270G>A (p.Pro2090=)
|
rs755217474
|
0.00001
|
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys)
|
rs61750646
|
0.00001
|
NM_000350.3(ABCA4):c.6301A>T (p.Met2101Leu)
|
rs1291006472
|
0.00001
|
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His)
|
rs1057520213
|
0.00001
|
NM_000350.3(ABCA4):c.6339C>T (p.Ile2113=)
|
rs61750649
|
0.00001
|
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)
|
rs61748520
|
0.00001
|
NM_000350.3(ABCA4):c.6383A>G (p.His2128Arg)
|
rs61750651
|
0.00001
|
NM_000350.3(ABCA4):c.6386+2C>G
|
rs61753043
|
0.00001
|
NM_000350.3(ABCA4):c.638T>A (p.Phe213Tyr)
|
rs751029989
|
0.00001
|
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)
|
rs61750652
|
0.00001
|
NM_000350.3(ABCA4):c.6396A>G (p.Glu2132=)
|
rs375151013
|
0.00001
|
NM_000350.3(ABCA4):c.6442T>C (p.Phe2148Leu)
|
rs780798765
|
0.00001
|
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)
|
rs61750654
|
0.00001
|
NM_000350.3(ABCA4):c.6448T>C (p.Cys2150Arg)
|
rs61750656
|
0.00001
|
NM_000350.3(ABCA4):c.6494A>G (p.Tyr2165Cys)
|
rs940867738
|
0.00001
|
NM_000350.3(ABCA4):c.6495T>C (p.Tyr2165=)
|
rs200106061
|
0.00001
|
NM_000350.3(ABCA4):c.6499G>A (p.Val2167Ile)
|
rs761087853
|
0.00001
|
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)
|
rs61750658
|
0.00001
|
NM_000350.3(ABCA4):c.6577T>G (p.Phe2193Val)
|
rs1659057871
|
0.00001
|
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)
|
rs61748538
|
0.00001
|
NM_000350.3(ABCA4):c.66+15C>G
|
rs199819545
|
0.00001
|
NM_000350.3(ABCA4):c.66+19G>A
|
rs777949965
|
0.00001
|
NM_000350.3(ABCA4):c.6612C>T (p.Asn2204=)
|
rs1261594518
|
0.00001
|
NM_000350.3(ABCA4):c.6624C>T (p.Phe2208=)
|
rs1299747532
|
0.00001
|
NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro)
|
rs61750659
|
0.00001
|
NM_000350.3(ABCA4):c.6730-20C>T
|
rs1013156137
|
0.00001
|
NM_000350.3(ABCA4):c.6787C>T (p.Arg2263Ter)
|
rs998363634
|
0.00001
|
NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter)
|
rs372234578
|
0.00001
|
NM_000350.3(ABCA4):c.6816+6C>T
|
rs942628802
|
0.00001
|
NM_000350.3(ABCA4):c.6817-17G>A
|
rs749454214
|
0.00001
|
NM_000350.3(ABCA4):c.700C>T (p.Gln234Ter)
|
rs1330135890
|
0.00001
|
NM_000350.3(ABCA4):c.726C>T (p.Asp242=)
|
rs766869751
|
0.00001
|
NM_000350.3(ABCA4):c.740A>G (p.Asn247Ser)
|
rs62645950
|
0.00001
|
NM_000350.3(ABCA4):c.769-3C>T
|
rs368010652
|
0.00001
|
NM_000350.3(ABCA4):c.769-9C>T
|
rs1413434693
|
0.00001
|
NM_000350.3(ABCA4):c.772C>T (p.Pro258Ser)
|
rs780691922
|
0.00001
|
NM_000350.3(ABCA4):c.790C>T (p.Arg264Cys)
|
rs767947718
|
0.00001
|
NM_000350.3(ABCA4):c.816T>C (p.Ser272=)
|
rs547765909
|
0.00001
|
NM_000350.3(ABCA4):c.822A>T (p.Gly274=)
|
rs771910126
|
0.00001
|
NM_000350.3(ABCA4):c.853C>G (p.Gln285Glu)
|
rs886041951
|
0.00001
|
NM_000350.3(ABCA4):c.859-546G>A
|
rs1316240731
|
0.00001
|
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)
|
rs781716640
|
0.00001
|
NM_000350.3(ABCA4):c.873G>A (p.Pro291=)
|
rs61753054
|
0.00001
|
NM_000350.3(ABCA4):c.919G>A (p.Gly307Ser)
|
rs753920327
|
0.00001
|
NM_000350.3(ABCA4):c.928G>C (p.Glu310Gln)
|
rs61753055
|
0.00001
|
NM_000350.3(ABCA4):c.933C>T (p.Thr311=)
|
rs61753056
|
0.00001
|
NM_000350.3(ABCA4):c.95C>T (p.Pro32Leu)
|
rs1428504985
|
0.00001
|
NM_000350.3(ABCA4):c.997C>T (p.Arg333Trp)
|
rs61748546
|
0.00001
|
GRCh37/hg19 1p22.1(chr1:94528133-94528873)x1
|
|
|
NC_000001.10:g.(?_94458793)_(94467568_?)del
|
|
|
NC_000001.10:g.(?_94458793)_(94512669_?)del
|
|
|
NC_000001.10:g.(?_94458793)_(94528893_?)dup
|
|
|
NC_000001.10:g.(?_94458793)_(94586601_?)dup
|
|
|
NC_000001.10:g.(?_94462147)_(94586601_?)del
|
|
|
NC_000001.10:g.(?_94463397)_(94549017_?)del
|
|
|
NC_000001.10:g.(?_94463476)_(94468246_?)del
|
|
|
NC_000001.10:g.(?_94466134)_(94466631_?)del
|
|
|
NC_000001.10:g.(?_94474287)_(94474447_?)del
|
|
|
NC_000001.10:g.(?_94476336)_(94476961_?)del
|
|
|
NC_000001.10:g.(?_94505221)_(94508448_?)del
|
|
|
NC_000001.10:g.(?_94508297)_(94511126_?)del
|
|
|
NC_000001.10:g.(?_94508297)_(94511126_?)dup
|
|
|
NC_000001.10:g.(?_94512455)_(94586601_?)del
|
|
|
NC_000001.10:g.(?_94514404)_(94514533_?)del
|
|
|
NC_000001.10:g.(?_94526073)_(94528893_?)del
|
|
|
NC_000001.10:g.(?_94543246)_(94544262_?)del
|
|
|
NC_000001.10:g.(?_94548888)_(94549017_?)del
|
|
|
NC_000001.10:g.(?_94548977)_(94551693_?)del
|
|
|
NC_000001.10:g.(?_94564330)_(94564567_?)del
|
|
|
NC_000001.10:g.(?_94564330)_(94574292_?)del
|
|
|
NC_000001.10:g.(?_94574113)_(94578642_?)del
|
|
|
NC_000001.10:g.(?_94586516)_(94586601_?)del
|
|
|
NC_000001.11:g.(?_93996109)_(93998110_?)del
|
|
|
NC_000001.11:g.(?_94023386)_(94023418_?)del
|
|
|
NC_000001.11:g.(?_94041209)_(94043475_?)del
|
|
|
NC_000001.11:g.(?_94048868)_(94048957_?)del
|
|
|
NC_000001.11:g.(?_94062577)_(94063317_?)del
|
|
|
NC_000001.11:g.94025047CT[1]
|
rs2101027818
|
|
NC_000001.11:g.94051699del
|
|
|
NC_000001.11:g.94078589CT[3]
|
|
|
NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs)
|
rs61750064
|
|
NM_000350.2:c.+10C>A
|
|
|
NM_000350.3(ABCA4):c.-41G>T
|
rs61784004
|
|
NM_000350.3(ABCA4):c.1006T>C (p.Ser336Pro)
|
rs2101106736
|
|
NM_000350.3(ABCA4):c.1013A>G (p.Asn338Ser)
|
rs1057522235
|
|
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His)
|
rs61748548
|
|
NM_000350.3(ABCA4):c.1018T>G (p.Tyr340Asp)
|
rs61748548
|
|
NM_000350.3(ABCA4):c.1019A>C (p.Tyr340Ser)
|
rs1191143782
|
|
NM_000350.3(ABCA4):c.1020T>C (p.Tyr340=)
|
|
|
NM_000350.3(ABCA4):c.1022A>G (p.Glu341Gly)
|
rs2101106686
|
|
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs)
|
rs63749083
|
|
NM_000350.3(ABCA4):c.1026C>T (p.Asp342=)
|
|
|
NM_000350.3(ABCA4):c.102T>G (p.Ser34=)
|
|
|
NM_000350.3(ABCA4):c.1032_1043del (p.Tyr345_Phe348del)
|
|
|
NM_000350.3(ABCA4):c.1033T>G (p.Tyr345Asp)
|
rs1661663019
|
|
NM_000350.3(ABCA4):c.1034A>G (p.Tyr345Cys)
|
rs1417184535
|
|
NM_000350.3(ABCA4):c.1035T>C (p.Tyr345=)
|
|
|
NM_000350.3(ABCA4):c.1036A>T (p.Lys346Ter)
|
rs61751422
|
|
NM_000350.3(ABCA4):c.1039G>T (p.Ala347Ser)
|
|
|
NM_000350.3(ABCA4):c.1043T>G (p.Phe348Cys)
|
|
|
NM_000350.3(ABCA4):c.1050G>A (p.Gly350=)
|
|
|
NM_000350.3(ABCA4):c.1050del (p.Ile351fs)
|
|
|
NM_000350.3(ABCA4):c.1056C>T (p.Asp352=)
|
rs1456527211
|
|
NM_000350.3(ABCA4):c.1057T>G (p.Ser353Ala)
|
rs2101106591
|
|
NM_000350.3(ABCA4):c.1059C>T (p.Ser353=)
|
|
|
NM_000350.3(ABCA4):c.1066A>T (p.Lys356Ter)
|
rs61751391
|
|
NM_000350.3(ABCA4):c.1069_1075del (p.Asp357fs)
|
rs2101106559
|
|
NM_000350.3(ABCA4):c.1075A>G (p.Ile359Val)
|
|
|
NM_000350.3(ABCA4):c.1077C>A (p.Ile359=)
|
|
|
NM_000350.3(ABCA4):c.1077_1080dup (p.Ser361fs)
|
rs1661660701
|
|
NM_000350.3(ABCA4):c.1082C>G (p.Ser361Cys)
|
|
|
NM_000350.3(ABCA4):c.1085A>G (p.Tyr362Cys)
|
rs1661659953
|
|
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter)
|
rs61752390
|
|
NM_000350.3(ABCA4):c.1086T>C (p.Tyr362=)
|
|
|
NM_000350.3(ABCA4):c.1086T>G (p.Tyr362Ter)
|
rs61752390
|
|
NM_000350.3(ABCA4):c.1087G>A (p.Asp363Asn)
|
rs1661659757
|
|
NM_000350.3(ABCA4):c.108del (p.Leu37fs)
|
rs62642569
|
|
NM_000350.3(ABCA4):c.1095_1096insCAATATCTATAAGGCCTTTCTGGGGATTGACTCCACAAGGAAGGATCCTATCTATTCTTATGACAGAAGA (p.Thr366delinsGlnTyrLeuTer)
|
|
|
NM_000350.3(ABCA4):c.1099+10C>G
|
rs2101106468
|
|
NM_000350.3(ABCA4):c.1099+166G>A
|
|
|
NM_000350.3(ABCA4):c.1099+1G>C
|
|
|
NM_000350.3(ABCA4):c.1099+2T>G
|
rs2101106481
|
|
NM_000350.3(ABCA4):c.1099+3A>C
|
rs1570407965
|
|
NM_000350.3(ABCA4):c.1099+80A>G
|
|
|
NM_000350.3(ABCA4):c.10G>A (p.Val4Met)
|
|
|
NM_000350.3(ABCA4):c.1100-12G>A
|
rs1488335217
|
|
NM_000350.3(ABCA4):c.1100-14T>C
|
rs61753059
|
|
NM_000350.3(ABCA4):c.1100-16C>A
|
|
|
NM_000350.3(ABCA4):c.1100-17C>T
|
|
|
NM_000350.3(ABCA4):c.1100-20T>C
|
|
|
NM_000350.3(ABCA4):c.1100-2A>T
|
rs886042034
|
|
NM_000350.3(ABCA4):c.1100-3C>T
|
rs770191455
|
|
NM_000350.3(ABCA4):c.1100-7C>G
|
|
|
NM_000350.3(ABCA4):c.1101A>T (p.Thr367=)
|
|
|
NM_000350.3(ABCA4):c.110T>C (p.Leu37Pro)
|
rs2101166972
|
|
NM_000350.3(ABCA4):c.1118del (p.Ala372_Leu373insTer)
|
rs2101104619
|
|
NM_000350.3(ABCA4):c.1131G>C (p.Leu377=)
|
|
|
NM_000350.3(ABCA4):c.114C>G (p.Val38=)
|
rs2101166958
|
|
NM_000350.3(ABCA4):c.1156G>T (p.Ala386Ser)
|
rs770754513
|
|
NM_000350.3(ABCA4):c.1158T>C (p.Ala386=)
|
|
|
NM_000350.3(ABCA4):c.1167G>T (p.Ala389=)
|
|
|
NM_000350.3(ABCA4):c.1169C>G (p.Ala390Gly)
|
|
|
NM_000350.3(ABCA4):c.1173G>A (p.Lys391=)
|
rs561739905
|
|
NM_000350.3(ABCA4):c.1173G>T (p.Lys391Asn)
|
rs561739905
|
|
NM_000350.3(ABCA4):c.1182G>A (p.Leu394=)
|
|
|
NM_000350.3(ABCA4):c.1182G>C (p.Leu394=)
|
|
|
NM_000350.3(ABCA4):c.1183A>G (p.Met395Val)
|
rs878885399
|
|
NM_000350.3(ABCA4):c.1185G>T (p.Met395Ile)
|
|
|
NM_000350.3(ABCA4):c.1198T>C (p.Tyr400His)
|
rs1661624556
|
|
NM_000350.3(ABCA4):c.1198_1207del (p.Tyr400fs)
|
|
|
NM_000350.3(ABCA4):c.1201A>G (p.Thr401Ala)
|
|
|
NM_000350.3(ABCA4):c.1201A>T (p.Thr401Ser)
|
rs559674920
|
|
NM_000350.3(ABCA4):c.1204C>T (p.Pro402Ser)
|
rs1281131866
|
|
NM_000350.3(ABCA4):c.1211C>G (p.Ser404Ter)
|
rs150686179
|
|
NM_000350.3(ABCA4):c.1213C>T (p.Pro405Ser)
|
rs2101104386
|
|
NM_000350.3(ABCA4):c.1220C>T (p.Ala407Val)
|
rs61751264
|
|
NM_000350.3(ABCA4):c.1221A>G (p.Ala407=)
|
|
|
NM_000350.3(ABCA4):c.1225del (p.Arg409fs)
|
rs387906387
|
|
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter)
|
rs61751410
|
|
NM_000350.3(ABCA4):c.1232T>C (p.Leu411Pro)
|
rs1661623028
|
|
NM_000350.3(ABCA4):c.1237A>T (p.Asn413Tyr)
|
rs763545409
|
|
NM_000350.3(ABCA4):c.1239+10C>A
|
rs1570406907
|
|
NM_000350.3(ABCA4):c.1239+10C>G
|
rs1570406907
|
|
NM_000350.3(ABCA4):c.1239+11A>T
|
rs374758024
|
|
NM_000350.3(ABCA4):c.1239+15G>T
|
|
|
NM_000350.3(ABCA4):c.1239+17G>A
|
rs2101104227
|
|
NM_000350.3(ABCA4):c.1239+18C>T
|
|
|
NM_000350.3(ABCA4):c.1239+19T>G
|
rs1661622186
|
|
NM_000350.3(ABCA4):c.1239+1G>A
|
|
|
NM_000350.3(ABCA4):c.1239+49TG[10]
|
rs4147886
|
|
NM_000350.3(ABCA4):c.1239+49TG[13]
|
rs4147886
|
|
NM_000350.3(ABCA4):c.1239+49TG[9]
|
|
|
NM_000350.3(ABCA4):c.1239+7T>C
|
|
|
NM_000350.3(ABCA4):c.1240-11T>C
|
|
|
NM_000350.3(ABCA4):c.1240-12G>C
|
|
|
NM_000350.3(ABCA4):c.1240-19G>T
|
|
|
NM_000350.3(ABCA4):c.1240-1G>A
|
|
|
NM_000350.3(ABCA4):c.1240-20_1240-9dup
|
rs767755028
|
|
NM_000350.3(ABCA4):c.1240-65del
|
rs3215952
|
|
NM_000350.3(ABCA4):c.1240-8G>A
|
rs185225547
|
|
NM_000350.3(ABCA4):c.1241C>A (p.Ala414Asp)
|
rs1553193893
|
|
NM_000350.3(ABCA4):c.1243A>G (p.Asn415Asp)
|
|
|
NM_000350.3(ABCA4):c.1248A>C (p.Ser416=)
|
rs61753960
|
|
NM_000350.3(ABCA4):c.1260A>G (p.Glu420=)
|
|
|
NM_000350.3(ABCA4):c.1262T>G (p.Leu421Arg)
|
rs1661604529
|
|
NM_000350.3(ABCA4):c.1267C>A (p.His423Asn)
|
rs138044729
|
|
NM_000350.3(ABCA4):c.1267_1268inv (p.His423Cys)
|
|
|
NM_000350.3(ABCA4):c.1268A>C (p.His423Pro)
|
rs3112831
|
|
NM_000350.3(ABCA4):c.1268_1269inv (p.His423Arg)
|
|
|
NM_000350.3(ABCA4):c.1272T>C (p.Val424=)
|
rs61748551
|
|
NM_000350.3(ABCA4):c.1274G>C (p.Arg425Thr)
|
|
|
NM_000350.3(ABCA4):c.1275G>A (p.Arg425=)
|
|
|
NM_000350.3(ABCA4):c.1283T>A (p.Val428Asp)
|
rs762811617
|
|
NM_000350.3(ABCA4):c.1289C>A (p.Ala430Asp)
|
|
|
NM_000350.3(ABCA4):c.1290C>G (p.Ala430=)
|
|
|
NM_000350.3(ABCA4):c.1293G>C (p.Trp431Cys)
|
rs886044725
|
|
NM_000350.3(ABCA4):c.1302A>G (p.Val434=)
|
|
|
NM_000350.3(ABCA4):c.1302del (p.Gln437fs)
|
rs1448468321
|
|
NM_000350.3(ABCA4):c.1304G>T (p.Gly435Val)
|
rs920723783
|
|
NM_000350.3(ABCA4):c.1317G>A (p.Trp439Ter)
|
rs61752391
|
|
NM_000350.3(ABCA4):c.1317G>C (p.Trp439Cys)
|
rs61752391
|
|
NM_000350.3(ABCA4):c.1317G>T (p.Trp439Cys)
|
|
|
NM_000350.3(ABCA4):c.1320C>A (p.Tyr440Ter)
|
|
|
NM_000350.3(ABCA4):c.1325T>C (p.Phe442Ser)
|
rs61752392
|
|
NM_000350.3(ABCA4):c.1336A>G (p.Thr446Ala)
|
|
|
NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter)
|
rs886039882
|
|
NM_000350.3(ABCA4):c.1341del (p.Gln447_Met448insTer)
|
rs61748553
|
|
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys)
|
rs777078540
|
|
NM_000350.3(ABCA4):c.1344del (p.Met448fs)
|
rs61748554
|
|
NM_000350.3(ABCA4):c.1347C>T (p.Asn449=)
|
|
|
NM_000350.3(ABCA4):c.1348A>T (p.Met450Leu)
|
rs2101102846
|
|
NM_000350.3(ABCA4):c.134C>T (p.Ala45Val)
|
rs368503198
|
|
NM_000350.3(ABCA4):c.1354A>C (p.Arg452=)
|
|
|
NM_000350.3(ABCA4):c.1356+10G>A
|
|
|
NM_000350.3(ABCA4):c.1356+10G>C
|
|
|
NM_000350.3(ABCA4):c.1356+10del
|
rs281865386
|
|
NM_000350.3(ABCA4):c.1356+10dup
|
rs281865386
|
|
NM_000350.3(ABCA4):c.1356+11T>C
|
|
|
NM_000350.3(ABCA4):c.1356+11_1356+12insC
|
|
|
NM_000350.3(ABCA4):c.1356+12dup
|
|
|
NM_000350.3(ABCA4):c.1356+13G>T
|
|
|
NM_000350.3(ABCA4):c.1356+14G>A
|
|
|
NM_000350.3(ABCA4):c.1356+14dup
|
rs886046567
|
|
NM_000350.3(ABCA4):c.1356+16G>A
|
|
|
NM_000350.3(ABCA4):c.1356+20G>A
|
|
|
NM_000350.3(ABCA4):c.1356+3_1356+4insG
|
rs2101102814
|
|
NM_000350.3(ABCA4):c.1356+4dup
|
rs1661600677
|
|
NM_000350.3(ABCA4):c.1356+5_1356+6insC
|
rs1553193877
|
|
NM_000350.3(ABCA4):c.1356+5_1356+6insT
|
rs1553193877
|
|
NM_000350.3(ABCA4):c.1356+6G>C
|
rs281865387
|
|
NM_000350.3(ABCA4):c.1356+6_1356+7insC
|
rs886046568
|
|
NM_000350.3(ABCA4):c.1356+7G>A
|
rs1661600322
|
|
NM_000350.3(ABCA4):c.1356+9_1356+10dup
|
rs281865386
|
|
NM_000350.3(ABCA4):c.1356+9_1356+10insC
|
|
|
NM_000350.3(ABCA4):c.1356+9_1356+10insT
|
rs4147887
|
|
NM_000350.3(ABCA4):c.1357-20C>T
|
|
|
NM_000350.3(ABCA4):c.1357-4C>G
|
|
|
NM_000350.3(ABCA4):c.1357-7T>C
|
|
|
NM_000350.3(ABCA4):c.1359T>C (p.Asp453=)
|
|
|
NM_000350.3(ABCA4):c.135C>T (p.Ala45=)
|
|
|
NM_000350.3(ABCA4):c.1362C>A (p.Thr454=)
|
|
|
NM_000350.3(ABCA4):c.1363C>A (p.Leu455Met)
|
rs764170051
|
|
NM_000350.3(ABCA4):c.1363C>T (p.Leu455=)
|
|
|
NM_000350.3(ABCA4):c.1363del (p.Leu455fs)
|
rs2101101428
|
|
NM_000350.3(ABCA4):c.1368dup (p.Asn457fs)
|
rs2101101390
|
|
NM_000350.3(ABCA4):c.1377A>C (p.Thr459=)
|
|
|
NM_000350.3(ABCA4):c.1377A>G (p.Thr459=)
|
|
|
NM_000350.3(ABCA4):c.1380A>G (p.Val460=)
|
|
|
NM_000350.3(ABCA4):c.1382_1383del (p.Lys461fs)
|
|
|
NM_000350.3(ABCA4):c.1386C>T (p.Asp462=)
|
|
|
NM_000350.3(ABCA4):c.1390_1391del (p.Leu464fs)
|
rs61748555
|
|
NM_000350.3(ABCA4):c.1391T>A (p.Leu464Ter)
|
rs2101101348
|
|
NM_000350.3(ABCA4):c.1399C>T (p.Gln467Ter)
|
rs1661578607
|
|
NM_000350.3(ABCA4):c.1405G>C (p.Gly469Arg)
|
rs1661578472
|
|
NM_000350.3(ABCA4):c.1405G>T (p.Gly469Cys)
|
rs1661578472
|
|
NM_000350.3(ABCA4):c.1410A>C (p.Glu470Asp)
|
rs886044578
|
|
NM_000350.3(ABCA4):c.1417_1420dup (p.Thr474fs)
|
rs1661578005
|
|
NM_000350.3(ABCA4):c.1425T>C (p.Ala475=)
|
|
|
NM_000350.3(ABCA4):c.1431C>T (p.Ala477=)
|
|
|
NM_000350.3(ABCA4):c.1435C>T (p.Leu479=)
|
|
|
NM_000350.3(ABCA4):c.1440C>T (p.Asn480=)
|
|
|
NM_000350.3(ABCA4):c.1442del (p.Phe481fs)
|
rs2101101226
|
|
NM_000350.3(ABCA4):c.1446C>G (p.Leu482=)
|
|
|
NM_000350.3(ABCA4):c.144C>A (p.Leu48=)
|
|
|
NM_000350.3(ABCA4):c.1452G>A (p.Lys484=)
|
|
|
NM_000350.3(ABCA4):c.1453G>A (p.Gly485Ser)
|
rs142362763
|
|
NM_000350.3(ABCA4):c.1456C>T (p.Pro486Ser)
|
rs1661577313
|
|
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln)
|
rs145614671
|
|
NM_000350.3(ABCA4):c.1460G>C (p.Arg487Pro)
|
rs145614671
|
|
NM_000350.3(ABCA4):c.1470G>A (p.Gln490=)
|
|
|
NM_000350.3(ABCA4):c.1471G>A (p.Ala491Thr)
|
rs757411893
|
|
NM_000350.3(ABCA4):c.1473T>G (p.Ala491=)
|
|
|
NM_000350.3(ABCA4):c.1476C>T (p.Asp492=)
|
|
|
NM_000350.3(ABCA4):c.1482G>A (p.Met494Ile)
|
|
|
NM_000350.3(ABCA4):c.1485C>T (p.Ala495=)
|
|
|
NM_000350.3(ABCA4):c.1491C>T (p.Phe497=)
|
|
|
NM_000350.3(ABCA4):c.1492G>C (p.Asp498His)
|
|
|
NM_000350.3(ABCA4):c.1496G>A (p.Trp499Ter)
|
rs1661575232
|
|
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter)
|
rs1553193813
|
|
NM_000350.3(ABCA4):c.1501G>T (p.Asp501Tyr)
|
|
|
NM_000350.3(ABCA4):c.1502A>G (p.Asp501Gly)
|
rs768480888
|
|
NM_000350.3(ABCA4):c.1506_1514del (p.Phe503_Ile505del)
|
rs62645953
|
|
NM_000350.3(ABCA4):c.1510A>C (p.Asn504His)
|
rs1243753206
|
|
NM_000350.3(ABCA4):c.1513_1517del (p.Asn504_Ile505insTer)
|
rs281865398
|
|
NM_000350.3(ABCA4):c.1514T>C (p.Ile505Thr)
|
rs2101100979
|
|
NM_000350.3(ABCA4):c.1518T>G (p.Thr506=)
|
|
|
NM_000350.3(ABCA4):c.1519G>T (p.Asp507Tyr)
|
|
|
NM_000350.3(ABCA4):c.1523G>A (p.Arg508His)
|
|
|
NM_000350.3(ABCA4):c.1523_1524delinsAA (p.Arg508Gln)
|
|
|
NM_000350.3(ABCA4):c.1527C>T (p.Thr509=)
|
|
|
NM_000350.3(ABCA4):c.1528C>G (p.Leu510Val)
|
|
|
NM_000350.3(ABCA4):c.1528C>T (p.Leu510Phe)
|
rs758584771
|
|
NM_000350.3(ABCA4):c.1528del (p.Leu510fs)
|
rs62646867
|
|
NM_000350.3(ABCA4):c.1529T>A (p.Leu510His)
|
|
|
NM_000350.3(ABCA4):c.1536G>T (p.Leu512=)
|
|
|
NM_000350.3(ABCA4):c.1538T>A (p.Val513Asp)
|
|
|
NM_000350.3(ABCA4):c.1546T>C (p.Tyr516His)
|
rs2101100877
|
|
NM_000350.3(ABCA4):c.1552G>T (p.Glu518Ter)
|
rs369860406
|
|
NM_000350.3(ABCA4):c.1554+11G>A
|
rs1661571699
|
|
NM_000350.3(ABCA4):c.1554+16C>T
|
|
|
NM_000350.3(ABCA4):c.1554+18C>A
|
|
|
NM_000350.3(ABCA4):c.1554+19del
|
|
|
NM_000350.3(ABCA4):c.1554+1G>A
|
rs61752393
|
|
NM_000350.3(ABCA4):c.1554+5G>A
|
rs1030394351
|
|
NM_000350.3(ABCA4):c.1554+6G>C
|
rs2101100839
|
|
NM_000350.3(ABCA4):c.1555-15T>A
|
|
|
NM_000350.3(ABCA4):c.1555-18C>T
|
|
|
NM_000350.3(ABCA4):c.1555-1G>A
|
rs61752394
|
|
NM_000350.3(ABCA4):c.1555-1G>T
|
rs61752394
|
|
NM_000350.3(ABCA4):c.1555-4G>A
|
|
|
NM_000350.3(ABCA4):c.1555-7T>C
|
|
|
NM_000350.3(ABCA4):c.155A>G (p.His52Arg)
|
|
|
NM_000350.3(ABCA4):c.1561del (p.Val521fs)
|
rs1279522242
|
|
NM_000350.3(ABCA4):c.1569del (p.Asp523fs)
|
rs2101079417
|
|
NM_000350.3(ABCA4):c.1570A>G (p.Lys524Glu)
|
rs1570394071
|
|
NM_000350.3(ABCA4):c.1573T>C (p.Phe525Leu)
|
rs1390212030
|
|
NM_000350.3(ABCA4):c.1574T>G (p.Phe525Cys)
|
|
|
NM_000350.3(ABCA4):c.1575T>G (p.Phe525Leu)
|
rs62646869
|
|
NM_000350.3(ABCA4):c.1577A>C (p.Glu526Ala)
|
rs1661180926
|
|
NM_000350.3(ABCA4):c.157G>T (p.Glu53Ter)
|
|
|
NM_000350.3(ABCA4):c.1580G>A (p.Ser527Asn)
|
rs1484756902
|
|
NM_000350.3(ABCA4):c.1584C>T (p.Tyr528=)
|
|
|
NM_000350.3(ABCA4):c.1586_1587del (p.Asn529fs)
|
rs2101079369
|
|
NM_000350.3(ABCA4):c.158A>T (p.Glu53Val)
|
rs1662652110
|
|
NM_000350.3(ABCA4):c.160+14G>A
|
|
|
NM_000350.3(ABCA4):c.160+16T>C
|
|
|
NM_000350.3(ABCA4):c.160+1G>A
|
rs61748523
|
|
NM_000350.3(ABCA4):c.160+5G>A
|
|
|
NM_000350.3(ABCA4):c.160+5G>C
|
rs1064793004
|
|
NM_000350.3(ABCA4):c.160+8T>A
|
|
|
NM_000350.3(ABCA4):c.160+8T>C
|
|
|
NM_000350.3(ABCA4):c.160+9A>T
|
|
|
NM_000350.3(ABCA4):c.1608A>G (p.Gln536=)
|
|
|
NM_000350.3(ABCA4):c.161-1G>A
|
|
|
NM_000350.3(ABCA4):c.161-20C>T
|
|
|
NM_000350.3(ABCA4):c.161-23T>A
|
|
|
NM_000350.3(ABCA4):c.161-275G>A
|
rs1889405
|
|
NM_000350.3(ABCA4):c.161-45G>T
|
rs61753048
|
|
NM_000350.3(ABCA4):c.1612G>A (p.Ala538Thr)
|
|
|
NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe)
|
rs150774447
|
|
NM_000350.3(ABCA4):c.1623A>G (p.Leu541=)
|
rs61753962
|
|
NM_000350.3(ABCA4):c.1626G>A (p.Leu542=)
|
|
|
NM_000350.3(ABCA4):c.1627G>A (p.Glu543Lys)
|
|
|
NM_000350.3(ABCA4):c.162C>T (p.Cys54=)
|
rs2101162940
|
|
NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs)
|
rs793888523
|
|
NM_000350.3(ABCA4):c.1641C>T (p.Phe547=)
|
rs1043103980
|
|
NM_000350.3(ABCA4):c.1644G>A (p.Trp548Ter)
|
|
|
NM_000350.3(ABCA4):c.1645G>A (p.Ala549Thr)
|
rs61748557
|
|
NM_000350.3(ABCA4):c.1645G>C (p.Ala549Pro)
|
rs61748557
|
|
NM_000350.3(ABCA4):c.1647C>A (p.Ala549=)
|
rs149270496
|
|
NM_000350.3(ABCA4):c.1649G>A (p.Gly550Glu)
|
|
|
NM_000350.3(ABCA4):c.164A>G (p.His55Arg)
|
|
|
NM_000350.3(ABCA4):c.1657T>G (p.Phe553Val)
|
|
|
NM_000350.3(ABCA4):c.1659C>G (p.Phe553Leu)
|
rs61752396
|
|
NM_000350.3(ABCA4):c.165T>C (p.His55=)
|
|
|
NM_000350.3(ABCA4):c.1663G>A (p.Asp555Asn)
|
rs2101079203
|
|
NM_000350.3(ABCA4):c.1665C>T (p.Asp555=)
|
|
|
NM_000350.3(ABCA4):c.1683C>T (p.Ser561=)
|
|
|
NM_000350.3(ABCA4):c.168C>T (p.Phe56=)
|
|
|
NM_000350.3(ABCA4):c.1696C>A (p.His566Asn)
|
|
|
NM_000350.3(ABCA4):c.1696del (p.His566fs)
|
rs756623639
|
|
NM_000350.3(ABCA4):c.1700T>C (p.Val567Ala)
|
|
|
NM_000350.3(ABCA4):c.1706A>G (p.Tyr569Cys)
|
rs1661176744
|
|
NM_000350.3(ABCA4):c.1712T>A (p.Ile571Asn)
|
|
|
NM_000350.3(ABCA4):c.1713C>T (p.Ile571=)
|
|
|
NM_000350.3(ABCA4):c.1714C>T (p.Arg572Ter)
|
rs1557787756
|
|
NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro)
|
rs61748559
|
|
NM_000350.3(ABCA4):c.1728C>T (p.Asp576=)
|
|
|
NM_000350.3(ABCA4):c.1730del (p.Val577fs)
|
rs2101079061
|
|
NM_000350.3(ABCA4):c.1743C>T (p.Thr581=)
|
|
|
NM_000350.3(ABCA4):c.1746T>C (p.Asn582=)
|
|
|
NM_000350.3(ABCA4):c.1749_1750del (p.Lys583fs)
|
rs2101079015
|
|
NM_000350.3(ABCA4):c.174C>G (p.Asn58Lys)
|
rs61748524
|
|
NM_000350.3(ABCA4):c.1752T>C (p.Ile584=)
|
|
|
NM_000350.3(ABCA4):c.1757A>G (p.Asp586Gly)
|
rs1553192682
|
|
NM_000350.3(ABCA4):c.1757del (p.Asp586fs)
|
rs2101079010
|
|
NM_000350.3(ABCA4):c.1758C>G (p.Asp586Glu)
|
rs1570393727
|
|
NM_000350.3(ABCA4):c.1759A>G (p.Arg587Gly)
|
rs1661175150
|
|
NM_000350.3(ABCA4):c.1760+1G>A
|
|
|
NM_000350.3(ABCA4):c.1760+22G>T
|
rs61754020
|
|
NM_000350.3(ABCA4):c.1760+2T>C
|
|
|
NM_000350.3(ABCA4):c.1760+2T>G
|
rs61751385
|
|
NM_000350.3(ABCA4):c.1761-10G>C
|
|
|
NM_000350.3(ABCA4):c.1761-10_1761-9del
|
|
|
NM_000350.3(ABCA4):c.1761-14C>T
|
|
|
NM_000350.3(ABCA4):c.1761-1G>A
|
|
|
NM_000350.3(ABCA4):c.1761-5C>G
|
|
|
NM_000350.3(ABCA4):c.1761-9T>C
|
rs1310384480
|
|
NM_000350.3(ABCA4):c.1761G>T (p.Arg587Ser)
|
rs1661166945
|
|
NM_000350.3(ABCA4):c.1763A>T (p.Tyr588Phe)
|
rs972888328
|
|
NM_000350.3(ABCA4):c.1764T>C (p.Tyr588=)
|
|
|
NM_000350.3(ABCA4):c.1765del (p.Trp589fs)
|
rs1557787559
|
|
NM_000350.3(ABCA4):c.1766G>A (p.Trp589Ter)
|
rs2101078482
|
|
NM_000350.3(ABCA4):c.1767G>A (p.Trp589Ter)
|
|
|
NM_000350.3(ABCA4):c.177G>A (p.Lys59=)
|
|
|
NM_000350.3(ABCA4):c.1783G>A (p.Ala595Thr)
|
rs2101078458
|
|
NM_000350.3(ABCA4):c.1785T>C (p.Ala595=)
|
|
|
NM_000350.3(ABCA4):c.1785T>G (p.Ala595=)
|
rs1249348439
|
|
NM_000350.3(ABCA4):c.1786G>T (p.Asp596Tyr)
|
rs1661166511
|
|
NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser)
|
rs61751393
|
|
NM_000350.3(ABCA4):c.178G>A (p.Ala60Thr)
|
rs61751411
|
|
NM_000350.3(ABCA4):c.1791del (p.Val598fs)
|
rs1661166046
|
|
NM_000350.3(ABCA4):c.1792G>A (p.Val598Met)
|
rs201838557
|
|
NM_000350.3(ABCA4):c.1794G>A (p.Val598=)
|
|
|
NM_000350.3(ABCA4):c.1798G>A (p.Asp600Asn)
|
|
|
NM_000350.3(ABCA4):c.1798G>T (p.Asp600Tyr)
|
rs61752397
|
|
NM_000350.3(ABCA4):c.179C>A (p.Ala60Glu)
|
|
|
NM_000350.3(ABCA4):c.1805G>C (p.Arg602Pro)
|
|
|
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His)
|
rs1064793006
|
|
NM_000350.3(ABCA4):c.1808A>G (p.Tyr603Cys)
|
|
|
NM_000350.3(ABCA4):c.1808A>T (p.Tyr603Phe)
|
rs2101078386
|
|
NM_000350.3(ABCA4):c.1809del (p.Arg602_Tyr603insTer)
|
|
|
NM_000350.3(ABCA4):c.180del (p.Met61fs)
|
|
|
NM_000350.3(ABCA4):c.1811T>G (p.Ile604Ser)
|
rs61749411
|
|
NM_000350.3(ABCA4):c.1813del (p.Trp605fs)
|
rs1661165160
|
|
NM_000350.3(ABCA4):c.1814G>A (p.Trp605Ter)
|
rs2101078370
|
|
NM_000350.3(ABCA4):c.1819G>C (p.Gly607Arg)
|
rs61749412
|
|
NM_000350.3(ABCA4):c.1819G>T (p.Gly607Trp)
|
rs61749412
|
|
NM_000350.3(ABCA4):c.1822T>C (p.Phe608Leu)
|
rs61752398
|
|
NM_000350.3(ABCA4):c.1823T>A (p.Phe608Tyr)
|
rs61752399
|
|
NM_000350.3(ABCA4):c.1825G>C (p.Ala609Pro)
|
rs2101078330
|
|
NM_000350.3(ABCA4):c.182T>C (p.Met61Thr)
|
|
|
NM_000350.3(ABCA4):c.1832T>C (p.Leu611Pro)
|
|
|
NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter)
|
rs1057517700
|
|
NM_000350.3(ABCA4):c.1838A>T (p.Asp613Val)
|
rs2101078303
|
|
NM_000350.3(ABCA4):c.183G>A (p.Met61Ile)
|
|
|
NM_000350.3(ABCA4):c.1840A>G (p.Met614Val)
|
rs749053239
|
|
NM_000350.3(ABCA4):c.1843G>C (p.Val615Leu)
|
rs374931400
|
|
NM_000350.3(ABCA4):c.1843G>T (p.Val615Phe)
|
rs374931400
|
|
NM_000350.3(ABCA4):c.1844T>C (p.Val615Ala)
|
rs2101078285
|
|
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)
|
rs1557787473
|
|
NM_000350.3(ABCA4):c.1848del (p.Glu616fs)
|
rs61751386
|
|
NM_000350.3(ABCA4):c.184C>A (p.Pro62Thr)
|
rs1355238974
|
|
NM_000350.3(ABCA4):c.184C>G (p.Pro62Ala)
|
|
|
NM_000350.3(ABCA4):c.1850A>C (p.Gln617Pro)
|
|
|
NM_000350.3(ABCA4):c.1851_1860del (p.Ile619fs)
|
rs1661162346
|
|
NM_000350.3(ABCA4):c.1852G>A (p.Gly618Arg)
|
rs1661163134
|
|
NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu)
|
rs61751394
|
|
NM_000350.3(ABCA4):c.1854G>A (p.Gly618=)
|
|
|
NM_000350.3(ABCA4):c.1855A>T (p.Ile619Phe)
|
rs1231688819
|
|
NM_000350.3(ABCA4):c.1865G>T (p.Ser622Ile)
|
|
|
NM_000350.3(ABCA4):c.1868A>G (p.Gln623Arg)
|
|
|
NM_000350.3(ABCA4):c.186C>G (p.Pro62=)
|
|
|
NM_000350.3(ABCA4):c.1873C>T (p.Gln625Ter)
|
rs878853396
|
|
NM_000350.3(ABCA4):c.1874_1912del (p.Gln625_Met637del)
|
|
|
NM_000350.3(ABCA4):c.1877C>T (p.Ala626Val)
|
|
|
NM_000350.3(ABCA4):c.1882G>A (p.Ala628Thr)
|
rs753058962
|
|
NM_000350.3(ABCA4):c.1885C>G (p.Pro629Ala)
|
|
|
NM_000350.3(ABCA4):c.1888del (p.Val630fs)
|
|
|
NM_000350.3(ABCA4):c.188C>T (p.Ser63Leu)
|
rs2101162668
|
|
NM_000350.3(ABCA4):c.1892G>A (p.Gly631Glu)
|
|
|
NM_000350.3(ABCA4):c.1892G>T (p.Gly631Val)
|
|
|
NM_000350.3(ABCA4):c.1894del (p.Ile632fs)
|
rs61749413
|
|
NM_000350.3(ABCA4):c.189A>T (p.Ser63=)
|
|
|
NM_000350.3(ABCA4):c.1901T>C (p.Leu634Pro)
|
|
|
NM_000350.3(ABCA4):c.1902C>G (p.Leu634=)
|
|
|
NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys)
|
rs61749414
|
|
NM_000350.3(ABCA4):c.1905G>A (p.Gln635=)
|
|
|
NM_000350.3(ABCA4):c.1906C>A (p.Gln636Lys)
|
|
|
NM_000350.3(ABCA4):c.1908G>T (p.Gln636His)
|
rs61752400
|
|
NM_000350.3(ABCA4):c.1913C>T (p.Pro638Leu)
|
rs1440824352
|
|
NM_000350.3(ABCA4):c.1915T>C (p.Tyr639His)
|
rs2101078070
|
|
NM_000350.3(ABCA4):c.1916A>G (p.Tyr639Cys)
|
rs1570393097
|
|
NM_000350.3(ABCA4):c.1917C>A (p.Tyr639Ter)
|
rs61749415
|
|
NM_000350.3(ABCA4):c.1918C>T (p.Pro640Ser)
|
|
|
NM_000350.3(ABCA4):c.1919C>A (p.Pro640His)
|
|
|
NM_000350.3(ABCA4):c.1919C>G (p.Pro640Arg)
|
|
|
NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu)
|
rs760790294
|
|
NM_000350.3(ABCA4):c.191C>T (p.Ala64Val)
|
|
|
NM_000350.3(ABCA4):c.1921T>C (p.Cys641Arg)
|
rs1661159038
|
|
NM_000350.3(ABCA4):c.1921T>G (p.Cys641Gly)
|
rs1661159038
|
|
NM_000350.3(ABCA4):c.1922G>C (p.Cys641Ser)
|
rs61749416
|
|
NM_000350.3(ABCA4):c.1924T>A (p.Phe642Ile)
|
rs2101078030
|
|
NM_000350.3(ABCA4):c.1926C>T (p.Phe642=)
|
|
|
NM_000350.3(ABCA4):c.1927G>C (p.Val643Leu)
|
rs61749417
|
|
NM_000350.3(ABCA4):c.1932C>A (p.Asp644Glu)
|
|
|
NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn)
|
rs61749418
|
|
NM_000350.3(ABCA4):c.1933G>T (p.Asp645Tyr)
|
|
|
NM_000350.3(ABCA4):c.1934A>G (p.Asp645Gly)
|
rs2101077991
|
|
NM_000350.3(ABCA4):c.1937+12G>T
|
|
|
NM_000350.3(ABCA4):c.1937+17C>T
|
|
|
NM_000350.3(ABCA4):c.1937+18G>A
|
rs748666179
|
|
NM_000350.3(ABCA4):c.1937+18G>T
|
|
|
NM_000350.3(ABCA4):c.1937+1G>C
|
|
|
NM_000350.3(ABCA4):c.1937+2T>C
|
rs61749419
|
|
NM_000350.3(ABCA4):c.1937+37C>T
|
|
|
NM_000350.3(ABCA4):c.1937+3G>A
|
|
|
NM_000350.3(ABCA4):c.1937+3G>C
|
rs770529608
|
|
NM_000350.3(ABCA4):c.1937+435C>G
|
rs1570392557
|
|
NM_000350.3(ABCA4):c.1937+4A>T
|
|
|
NM_000350.3(ABCA4):c.1937+5G>A
|
rs536864160
|
|
NM_000350.3(ABCA4):c.1937+8T>A
|
|
|
NM_000350.3(ABCA4):c.1938-12C>T
|
|
|
NM_000350.3(ABCA4):c.1938-14T>C
|
|
|
NM_000350.3(ABCA4):c.1938-15C>T
|
|
|
NM_000350.3(ABCA4):c.1938-17C>T
|
rs1661101954
|
|
NM_000350.3(ABCA4):c.1938-18T>C
|
|
|
NM_000350.3(ABCA4):c.1938-619A>G
|
rs2101076246
|
|
NM_000350.3(ABCA4):c.1938-621G>T
|
|
|
NM_000350.3(ABCA4):c.1938-6C>T
|
|
|
NM_000350.3(ABCA4):c.1938-822_1938-808del
|
rs558115674
|
|
NM_000350.3(ABCA4):c.193G>A (p.Gly65Arg)
|
rs1662604844
|
|
NM_000350.3(ABCA4):c.1944G>T (p.Met648Ile)
|
rs770565005
|
|
NM_000350.3(ABCA4):c.1947C>T (p.Ile649=)
|
|
|
NM_000350.3(ABCA4):c.1949T>C (p.Ile650Thr)
|
|
|
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)
|
rs62654395
|
|
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)
|
rs141823837
|
|
NM_000350.3(ABCA4):c.1960T>C (p.Cys654Arg)
|
rs1661100332
|
|
NM_000350.3(ABCA4):c.1961G>A (p.Cys654Tyr)
|
|
|
NM_000350.3(ABCA4):c.1968T>A (p.Pro656=)
|
|
|
NM_000350.3(ABCA4):c.1977G>A (p.Met659Ile)
|
rs1661099730
|
|
NM_000350.3(ABCA4):c.1982T>G (p.Leu661Arg)
|
|
|
NM_000350.3(ABCA4):c.1983G>A (p.Leu661=)
|
rs373643636
|
|
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter)
|
rs865990202
|
|
NM_000350.3(ABCA4):c.1989G>A (p.Trp663Ter)
|
rs61749421
|
|
NM_000350.3(ABCA4):c.1994del (p.Tyr665fs)
|
|
|
NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter)
|
rs757302286
|
|
NM_000350.3(ABCA4):c.1995C>G (p.Tyr665Ter)
|
|
|
NM_000350.3(ABCA4):c.1998T>G (p.Ser666=)
|
|
|
NM_000350.3(ABCA4):c.1A>T (p.Met1Leu)
|
|
|
NM_000350.3(ABCA4):c.2001C>T (p.Val667=)
|
|
|
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs)
|
rs61749422
|
|
NM_000350.3(ABCA4):c.2007G>C (p.Met669Ile)
|
rs545963645
|
|
NM_000350.3(ABCA4):c.2011G>A (p.Val671Met)
|
|
|
NM_000350.3(ABCA4):c.2018G>T (p.Ser673Ile)
|
rs1052151674
|
|
NM_000350.3(ABCA4):c.2019_2031del (p.Ser673fs)
|
|
|
NM_000350.3(ABCA4):c.2029G>A (p.Glu677Lys)
|
rs2101075259
|
|
NM_000350.3(ABCA4):c.2029G>C (p.Glu677Gln)
|
|
|
NM_000350.3(ABCA4):c.2032_2034del (p.Lys678del)
|
|
|
NM_000350.3(ABCA4):c.2034G>T (p.Lys678Asn)
|
rs1376036671
|
|
NM_000350.3(ABCA4):c.2036A>T (p.Glu679Val)
|
rs1553192420
|
|
NM_000350.3(ABCA4):c.2038T>C (p.Leu680=)
|
|
|
NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg)
|
rs62654397
|
|
NM_000350.3(ABCA4):c.2040del (p.Leu680fs)
|
rs1661097693
|
|
NM_000350.3(ABCA4):c.2041C>A (p.Arg681=)
|
|
|
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)
|
rs61749423
|
|
NM_000350.3(ABCA4):c.2046G>A (p.Leu682=)
|
rs573049914
|
|
NM_000350.3(ABCA4):c.2049G>A (p.Lys683=)
|
|
|
NM_000350.3(ABCA4):c.204G>T (p.Pro68=)
|
|
|
NM_000350.3(ABCA4):c.2054C>T (p.Thr685Ile)
|
rs1661097165
|
|
NM_000350.3(ABCA4):c.2055C>T (p.Thr685=)
|
|
|
NM_000350.3(ABCA4):c.2057T>C (p.Leu686Ser)
|
rs61752402
|
|
NM_000350.3(ABCA4):c.2063A>T (p.Asn688Ile)
|
rs1557786289
|
|
NM_000350.3(ABCA4):c.2063del (p.Asn688fs)
|
|
|
NM_000350.3(ABCA4):c.2069G>A (p.Gly690Asp)
|
rs942734318
|
|
NM_000350.3(ABCA4):c.2069G>T (p.Gly690Val)
|
rs942734318
|
|
NM_000350.3(ABCA4):c.2069del (p.Gly690fs)
|
rs2101075191
|
|
NM_000350.3(ABCA4):c.2073_2079delinsACCTGGTTCA (p.Ser692_Asn693delinsProGlySer)
|
|
|
NM_000350.3(ABCA4):c.2075C>T (p.Ser692Phe)
|
|
|
NM_000350.3(ABCA4):c.2081C>T (p.Ala694Val)
|
rs770140944
|
|
NM_000350.3(ABCA4):c.2081del (p.Ala694fs)
|
|
|
NM_000350.3(ABCA4):c.2085G>A (p.Val695=)
|
|
|
NM_000350.3(ABCA4):c.2090G>A (p.Trp697Ter)
|
rs61749424
|
|
NM_000350.3(ABCA4):c.2096C>A (p.Thr699Asn)
|
rs1057519142
|
|
NM_000350.3(ABCA4):c.2096C>T (p.Thr699Ile)
|
|
|
NM_000350.3(ABCA4):c.2099G>A (p.Trp700Ter)
|
rs61749425
|
|
NM_000350.3(ABCA4):c.209T>C (p.Leu70Pro)
|
rs2101162564
|
|
NM_000350.3(ABCA4):c.2103C>T (p.Phe701=)
|
|
|
NM_000350.3(ABCA4):c.2105T>C (p.Leu702Pro)
|
|
|
NM_000350.3(ABCA4):c.2121C>T (p.Ile707=)
|
|
|
NM_000350.3(ABCA4):c.2122A>G (p.Met708Val)
|
|
|
NM_000350.3(ABCA4):c.2124G>T (p.Met708Ile)
|
rs753711353
|
|
NM_000350.3(ABCA4):c.2148G>A (p.Thr716=)
|
|
|
NM_000350.3(ABCA4):c.2149A>G (p.Ile717Val)
|
rs1345184930
|
|
NM_000350.3(ABCA4):c.2153T>A (p.Phe718Tyr)
|
|
|
NM_000350.3(ABCA4):c.2154C>T (p.Phe718=)
|
|
|
NM_000350.3(ABCA4):c.215G>A (p.Gly72Glu)
|
|
|
NM_000350.3(ABCA4):c.215G>T (p.Gly72Val)
|
rs2101162548
|
|
NM_000350.3(ABCA4):c.2160+11T>A
|
|
|
NM_000350.3(ABCA4):c.2160+11T>C
|
|
|
NM_000350.3(ABCA4):c.2160+12G>A
|
|
|
NM_000350.3(ABCA4):c.2160+15G>A
|
|
|
NM_000350.3(ABCA4):c.2160+1G>C
|
rs61749427
|
|
NM_000350.3(ABCA4):c.2161-18A>G
|
|
|
NM_000350.3(ABCA4):c.2161-20G>A
|
|
|
NM_000350.3(ABCA4):c.2161-2A>G
|
|
|
NM_000350.3(ABCA4):c.2161-7dup
|
|
|
NM_000350.3(ABCA4):c.2161-8G>A
|
rs1660996754
|
|
NM_000350.3(ABCA4):c.2161-9T>C
|
|
|
NM_000350.3(ABCA4):c.216G>A (p.Gly72=)
|
|
|
NM_000350.3(ABCA4):c.216G>T (p.Gly72=)
|
rs1273972784
|
|
NM_000350.3(ABCA4):c.2172C>A (p.Ile724=)
|
|
|
NM_000350.3(ABCA4):c.2174T>C (p.Leu725Pro)
|
rs765683730
|
|
NM_000350.3(ABCA4):c.2175A>T (p.Leu725=)
|
|
|
NM_000350.3(ABCA4):c.2182A>G (p.Ser728Gly)
|
rs1064793007
|
|
NM_000350.3(ABCA4):c.2184C>A (p.Ser728Arg)
|
rs776910485
|
|
NM_000350.3(ABCA4):c.2184C>T (p.Ser728=)
|
|
|
NM_000350.3(ABCA4):c.2185G>A (p.Asp729Asn)
|
|
|
NM_000350.3(ABCA4):c.2193C>T (p.Phe731=)
|
|
|
NM_000350.3(ABCA4):c.2194A>G (p.Ile732Val)
|
|
|
NM_000350.3(ABCA4):c.219C>T (p.Ile73=)
|
|
|
NM_000350.3(ABCA4):c.2205G>T (p.Leu735=)
|
|
|
NM_000350.3(ABCA4):c.2208C>A (p.Phe736Leu)
|
rs2101069913
|
|
NM_000350.3(ABCA4):c.2211G>T (p.Leu737Phe)
|
|
|
NM_000350.3(ABCA4):c.2212T>C (p.Leu738=)
|
|
|
NM_000350.3(ABCA4):c.2217T>A (p.Ala739=)
|
rs2101069891
|
|
NM_000350.3(ABCA4):c.2237T>A (p.Met746Lys)
|
rs1660994402
|
|
NM_000350.3(ABCA4):c.2239del (p.Leu747fs)
|
rs2101069863
|
|
NM_000350.3(ABCA4):c.223T>C (p.Cys75Arg)
|
rs61748526
|
|
NM_000350.3(ABCA4):c.2242T>C (p.Cys748Arg)
|
rs2101069861
|
|
NM_000350.3(ABCA4):c.2244C>T (p.Cys748=)
|
|
|
NM_000350.3(ABCA4):c.2249T>C (p.Leu750Pro)
|
rs1064793008
|
|
NM_000350.3(ABCA4):c.224G>A (p.Cys75Tyr)
|
|
|
NM_000350.3(ABCA4):c.2252T>C (p.Leu751Pro)
|
rs1660994125
|
|
NM_000350.3(ABCA4):c.2255G>A (p.Ser752Asn)
|
|
|
NM_000350.3(ABCA4):c.2258C>A (p.Thr753Asn)
|
|
|
NM_000350.3(ABCA4):c.2261T>C (p.Phe754Ser)
|
|
|
NM_000350.3(ABCA4):c.2263T>G (p.Phe755Val)
|
rs1660993598
|
|
NM_000350.3(ABCA4):c.2265C>G (p.Phe755Leu)
|
|
|
NM_000350.3(ABCA4):c.2278C>G (p.Leu760Val)
|
rs886046566
|
|
NM_000350.3(ABCA4):c.2288C>A (p.Ala763Asp)
|
rs1660985994
|
|
NM_000350.3(ABCA4):c.2288C>G (p.Ala763Gly)
|
|
|
NM_000350.3(ABCA4):c.2291G>T (p.Cys764Phe)
|
|
|
NM_000350.3(ABCA4):c.2292del (p.Ala763_Cys764insTer)
|
rs61752403
|
|
NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)
|
rs61749429
|
|
NM_000350.3(ABCA4):c.2294G>C (p.Ser765Thr)
|
rs61749429
|
|
NM_000350.3(ABCA4):c.2294GTG[1] (p.Gly766del)
|
rs2101069736
|
|
NM_000350.3(ABCA4):c.2294_2295delinsAA (p.Ser765Lys)
|
rs1660985683
|
|
NM_000350.3(ABCA4):c.2295T>G (p.Ser765Arg)
|
rs61752404
|
|
NM_000350.3(ABCA4):c.2298T>C (p.Gly766=)
|
|
|
NM_000350.3(ABCA4):c.229G>A (p.Val77Met)
|
rs1662603511
|
|
NM_000350.3(ABCA4):c.2305T>C (p.Tyr769His)
|
|
|
NM_000350.3(ABCA4):c.2306A>G (p.Tyr769Cys)
|
rs751408792
|
|
NM_000350.3(ABCA4):c.230T>A (p.Val77Glu)
|
rs61748527
|
|
NM_000350.3(ABCA4):c.2310C>G (p.Phe770Leu)
|
rs1660985145
|
|
NM_000350.3(ABCA4):c.2320C>T (p.Leu774=)
|
|
|
NM_000350.3(ABCA4):c.2323C>A (p.Pro775Thr)
|
|
|
NM_000350.3(ABCA4):c.2323C>T (p.Pro775Ser)
|
|
|
NM_000350.3(ABCA4):c.2328C>A (p.His776Gln)
|
|
|
NM_000350.3(ABCA4):c.2329A>G (p.Ile777Val)
|
rs759110306
|
|
NM_000350.3(ABCA4):c.232A>C (p.Asn78His)
|
|
|
NM_000350.3(ABCA4):c.2330T>A (p.Ile777Asn)
|
rs2101069681
|
|
NM_000350.3(ABCA4):c.2337C>A (p.Cys779Ter)
|
rs61749430
|
|
NM_000350.3(ABCA4):c.233A>G (p.Asn78Ser)
|
|
|
NM_000350.3(ABCA4):c.234C>T (p.Asn78=)
|
rs61753049
|
|
NM_000350.3(ABCA4):c.2353C>G (p.Arg785Gly)
|
rs781254854
|
|
NM_000350.3(ABCA4):c.2353C>T (p.Arg785Cys)
|
rs781254854
|
|
NM_000350.3(ABCA4):c.2361C>T (p.Thr787=)
|
rs777636827
|
|
NM_000350.3(ABCA4):c.2367G>A (p.Glu789=)
|
|
|
NM_000350.3(ABCA4):c.2369T>G (p.Leu790Arg)
|
rs547925462
|
|
NM_000350.3(ABCA4):c.2372A>G (p.Lys791Arg)
|
|
|
NM_000350.3(ABCA4):c.2377G>A (p.Ala793Thr)
|
rs1375925632
|
|
NM_000350.3(ABCA4):c.2378C>A (p.Ala793Asp)
|
rs2101069562
|
|
NM_000350.3(ABCA4):c.2379T>C (p.Ala793=)
|
|
|
NM_000350.3(ABCA4):c.237T>A (p.Asn79Lys)
|
|
|
NM_000350.3(ABCA4):c.2382+10T>G
|
rs1660982907
|
|
NM_000350.3(ABCA4):c.2382+14G>T
|
|
|
NM_000350.3(ABCA4):c.2382+18G>A
|
|
|
NM_000350.3(ABCA4):c.2382+1G>A
|
rs1660983058
|
|
NM_000350.3(ABCA4):c.2382+1G>C
|
rs1660983058
|
|
NM_000350.3(ABCA4):c.2382+4A>G
|
|
|
NM_000350.3(ABCA4):c.2382+8C>G
|
|
|
NM_000350.3(ABCA4):c.2382G>T (p.Val794=)
|
rs2101069554
|
|
NM_000350.3(ABCA4):c.2383-10C>T
|
|
|
NM_000350.3(ABCA4):c.2383-13C>A
|
|
|
NM_000350.3(ABCA4):c.2383-19C>T
|
|
|
NM_000350.3(ABCA4):c.2383-6C>G
|
|
|
NM_000350.3(ABCA4):c.2383-6C>T
|
|
|
NM_000350.3(ABCA4):c.2384G>A (p.Ser795Asn)
|
|
|
NM_000350.3(ABCA4):c.2385C>G (p.Ser795Arg)
|
rs1660946056
|
|
NM_000350.3(ABCA4):c.2385_2400del (p.Ser795fs)
|
rs281865399
|
|
NM_000350.3(ABCA4):c.2388A>G (p.Leu796=)
|
|
|
NM_000350.3(ABCA4):c.2390T>C (p.Leu797Pro)
|
rs61749432
|
|
NM_000350.3(ABCA4):c.2391G>A (p.Leu797=)
|
|
|
NM_000350.3(ABCA4):c.2395_2396dup (p.Val800fs)
|
rs1660945616
|
|
NM_000350.3(ABCA4):c.2397G>A (p.Pro799=)
|
rs778503467
|
|
NM_000350.3(ABCA4):c.2402C>T (p.Ala801Val)
|
|
|
NM_000350.3(ABCA4):c.2407G>C (p.Gly803Arg)
|
rs1660945050
|
|
NM_000350.3(ABCA4):c.2408del (p.Gly803fs)
|
rs1570386206
|
|
NM_000350.3(ABCA4):c.2409A>G (p.Gly803=)
|
|
|
NM_000350.3(ABCA4):c.2409_2410del (p.Phe804fs)
|
rs61752405
|
|
NM_000350.3(ABCA4):c.240_241del (p.Cys81fs)
|
|
|
NM_000350.3(ABCA4):c.2414G>A (p.Gly805Asp)
|
rs1660944703
|
|
NM_000350.3(ABCA4):c.2415C>T (p.Gly805=)
|
rs754658763
|
|
NM_000350.3(ABCA4):c.2418T>C (p.Thr806=)
|
|
|
NM_000350.3(ABCA4):c.2424C>G (p.Tyr808Ter)
|
|
|
NM_000350.3(ABCA4):c.2436T>C (p.Phe812=)
|
rs2101067870
|
|
NM_000350.3(ABCA4):c.2441_2446del (p.Glu814_Gln815del)
|
|
|
NM_000350.3(ABCA4):c.2443C>T (p.Gln815Ter)
|
rs140671840
|
|
NM_000350.3(ABCA4):c.2452G>A (p.Gly818Arg)
|
|
|
NM_000350.3(ABCA4):c.2454G>T (p.Gly818=)
|
|
|
NM_000350.3(ABCA4):c.2455C>T (p.Leu819=)
|
|
|
NM_000350.3(ABCA4):c.2456T>A (p.Leu819Gln)
|
rs1660943170
|
|
NM_000350.3(ABCA4):c.2457G>A (p.Leu819=)
|
rs1252565537
|
|
NM_000350.3(ABCA4):c.2459A>C (p.Gln820Pro)
|
rs914542176
|
|
NM_000350.3(ABCA4):c.246T>C (p.Phe82=)
|
|
|
NM_000350.3(ABCA4):c.2472C>A (p.Ile824=)
|
|
|
NM_000350.3(ABCA4):c.2478C>A (p.Asn826Lys)
|
rs2101067799
|
|
NM_000350.3(ABCA4):c.2478C>T (p.Asn826=)
|
rs2101067799
|
|
NM_000350.3(ABCA4):c.247_250del (p.Gln83fs)
|
rs61748528
|
|
NM_000350.3(ABCA4):c.2491G>T (p.Gly831Trp)
|
rs2101067779
|
|
NM_000350.3(ABCA4):c.2495A>G (p.Asp832Gly)
|
rs1660941624
|
|
NM_000350.3(ABCA4):c.249_250insCAAA (p.Ser84fs)
|
rs61751390
|
|
NM_000350.3(ABCA4):c.2509C>T (p.Leu837=)
|
|
|
NM_000350.3(ABCA4):c.2521C>A (p.Gln841Lys)
|
|
|
NM_000350.3(ABCA4):c.2522A>C (p.Gln841Pro)
|
rs2101067700
|
|
NM_000350.3(ABCA4):c.2529G>A (p.Met843Ile)
|
rs1660938718
|
|
NM_000350.3(ABCA4):c.252C>T (p.Ser84=)
|
|
|
NM_000350.3(ABCA4):c.2531T>G (p.Leu844Arg)
|
rs1660938577
|
|
NM_000350.3(ABCA4):c.2536G>C (p.Asp846His)
|
rs61754027
|
|
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val)
|
rs779466403
|
|
NM_000350.3(ABCA4):c.2539G>T (p.Ala847Ser)
|
rs1390658269
|
|
NM_000350.3(ABCA4):c.2545_2548del (p.Val849fs)
|
rs2101067647
|
|
NM_000350.3(ABCA4):c.2549A>C (p.Tyr850Ser)
|
|
|
NM_000350.3(ABCA4):c.2549A>G (p.Tyr850Cys)
|
rs143797418
|
|
NM_000350.3(ABCA4):c.2552G>A (p.Gly851Asp)
|
rs61749436
|
|
NM_000350.3(ABCA4):c.2557C>T (p.Leu853Phe)
|
|
|
NM_000350.3(ABCA4):c.2559C>G (p.Leu853=)
|
|
|
NM_000350.3(ABCA4):c.2562T>C (p.Ala854=)
|
|
|
NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter)
|
rs61749438
|
|
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn)
|
rs201223321
|
|
NM_000350.3(ABCA4):c.2568C>T (p.Tyr856=)
|
|
|
NM_000350.3(ABCA4):c.2570T>C (p.Leu857Pro)
|
rs768435443
|
|
NM_000350.3(ABCA4):c.2571del (p.Asp858fs)
|
rs61752407
|
|
NM_000350.3(ABCA4):c.2573A>G (p.Asp858Gly)
|
rs1660936980
|
|
NM_000350.3(ABCA4):c.257C>T (p.Thr86Ile)
|
|
|
NM_000350.3(ABCA4):c.2583T>C (p.Phe861=)
|
|
|
NM_000350.3(ABCA4):c.2585C>T (p.Pro862Leu)
|
rs61751382
|
|
NM_000350.3(ABCA4):c.2587+15C>T
|
|
|
NM_000350.3(ABCA4):c.2587+16T>C
|
|
|
NM_000350.3(ABCA4):c.2587+19A>G
|
|
|
NM_000350.3(ABCA4):c.2587+1G>A
|
rs61749439
|
|
NM_000350.3(ABCA4):c.2587+20G>T
|
|
|
NM_000350.3(ABCA4):c.2587+2T>C
|
rs1557783989
|
|
NM_000350.3(ABCA4):c.2587+8T>A
|
|
|
NM_000350.3(ABCA4):c.2587G>A (p.Gly863Arg)
|
rs1660936469
|
|
NM_000350.3(ABCA4):c.2588-10C>T
|
|
|
NM_000350.3(ABCA4):c.2588-11T>C
|
|
|
NM_000350.3(ABCA4):c.2588-12CT[4]
|
|
|
NM_000350.3(ABCA4):c.2588-15T>C
|
|
|
NM_000350.3(ABCA4):c.2588-18A>C
|
|
|
NM_000350.3(ABCA4):c.2588-18_2588-15del
|
|
|
NM_000350.3(ABCA4):c.2588-20T>C
|
|
|
NM_000350.3(ABCA4):c.2588-3del
|
|
|
NM_000350.3(ABCA4):c.2588-6T>G
|
|
|
NM_000350.3(ABCA4):c.2588-7_2588-6delinsGG
|
|
|
NM_000350.3(ABCA4):c.25C>T (p.Leu9Phe)
|
|
|
NM_000350.3(ABCA4):c.2600C>T (p.Thr867Ile)
|
rs2101063430
|
|
NM_000350.3(ABCA4):c.2603del (p.Pro868fs)
|
rs751791095
|
|
NM_000350.3(ABCA4):c.260del (p.Pro87fs)
|
rs2101162359
|
|
NM_000350.3(ABCA4):c.2616C>G (p.Tyr872Ter)
|
|
|
NM_000350.3(ABCA4):c.2616C>T (p.Tyr872=)
|
|
|
NM_000350.3(ABCA4):c.2616_2617del (p.Phe873fs)
|
rs62642560
|
|
NM_000350.3(ABCA4):c.2616del (p.Leu874fs)
|
rs1660844241
|
|
NM_000350.3(ABCA4):c.2622T>A (p.Leu874=)
|
|
|
NM_000350.3(ABCA4):c.2625A>G (p.Leu875=)
|
|
|
NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter)
|
rs1660843703
|
|
NM_000350.3(ABCA4):c.2627A>C (p.Gln876Pro)
|
rs1660843612
|
|
NM_000350.3(ABCA4):c.2631G>A (p.Glu877=)
|
|
|
NM_000350.3(ABCA4):c.2633C>T (p.Ser878Leu)
|
rs779160669
|
|
NM_000350.3(ABCA4):c.2639G>A (p.Trp880Ter)
|
|
|
NM_000350.3(ABCA4):c.2646C>A (p.Gly882=)
|
|
|
NM_000350.3(ABCA4):c.2651_2653+2del
|
|
|
NM_000350.3(ABCA4):c.2653+16C>T
|
|
|
NM_000350.3(ABCA4):c.2653+1G>C
|
rs1212420029
|
|
NM_000350.3(ABCA4):c.2653+2T>A
|
|
|
NM_000350.3(ABCA4):c.2653+2T>C
|
|
|
NM_000350.3(ABCA4):c.2653+2del
|
rs766646086
|
|
NM_000350.3(ABCA4):c.2653+5G>A
|
rs2101063293
|
|
NM_000350.3(ABCA4):c.2653+60G>C
|
rs61754028
|
|
NM_000350.3(ABCA4):c.2653+9T>C
|
|
|
NM_000350.3(ABCA4):c.2654-11G>A
|
|
|
NM_000350.3(ABCA4):c.2654-16C>T
|
|
|
NM_000350.3(ABCA4):c.2654-1G>A
|
|
|
NM_000350.3(ABCA4):c.2654-21A>T
|
rs61754029
|
|
NM_000350.3(ABCA4):c.2654-2A>G
|
rs2101059901
|
|
NM_000350.3(ABCA4):c.2654-3C>A
|
|
|
NM_000350.3(ABCA4):c.2657G>C (p.Cys886Ser)
|
rs2101059884
|
|
NM_000350.3(ABCA4):c.2664C>T (p.Thr888=)
|
rs1318811412
|
|
NM_000350.3(ABCA4):c.2673A>G (p.Glu891=)
|
|
|
NM_000350.3(ABCA4):c.2674del (p.Arg892fs)
|
|
|
NM_000350.3(ABCA4):c.2680C>T (p.Leu894=)
|
rs1660763115
|
|
NM_000350.3(ABCA4):c.2688del (p.Thr897fs)
|
|
|
NM_000350.3(ABCA4):c.2691C>T (p.Thr897=)
|
|
|
NM_000350.3(ABCA4):c.2691del (p.Glu898fs)
|
rs1660762877
|
|
NM_000350.3(ABCA4):c.2703A>T (p.Thr901=)
|
rs61749442
|
|
NM_000350.3(ABCA4):c.270T>C (p.Ser90=)
|
|
|
NM_000350.3(ABCA4):c.2713del (p.Glu905fs)
|
rs869312184
|
|
NM_000350.3(ABCA4):c.2730A>C (p.Pro910=)
|
|
|
NM_000350.3(ABCA4):c.2734G>A (p.Gly912Arg)
|
|
|
NM_000350.3(ABCA4):c.2741_2742del (p.His914fs)
|
rs2101059717
|
|
NM_000350.3(ABCA4):c.2743+10C>G
|
|
|
NM_000350.3(ABCA4):c.2743+10C>T
|
rs778675472
|
|
NM_000350.3(ABCA4):c.2743+13T>C
|
|
|
NM_000350.3(ABCA4):c.2743+17G>A
|
rs2101059675
|
|
NM_000350.3(ABCA4):c.2743+7C>T
|
|
|
NM_000350.3(ABCA4):c.2743G>A (p.Asp915Asn)
|
rs139035971
|
|
NM_000350.3(ABCA4):c.2744-13T>C
|
|
|
NM_000350.3(ABCA4):c.2744-16T>C
|
|
|
NM_000350.3(ABCA4):c.2744-19T>A
|
|
|
NM_000350.3(ABCA4):c.2744-1G>T
|
rs2101057505
|
|
NM_000350.3(ABCA4):c.2744-38del
|
rs281865389
|
|
NM_000350.3(ABCA4):c.2744-7dup
|
|
|
NM_000350.3(ABCA4):c.2744-9del
|
|
|
NM_000350.3(ABCA4):c.2744-9dup
|
rs763016325
|
|
NM_000350.3(ABCA4):c.2745C>T (p.Asp915=)
|
rs2101057503
|
|
NM_000350.3(ABCA4):c.2748C>T (p.Ser916=)
|
|
|
NM_000350.3(ABCA4):c.2748CTT[1] (p.Phe918del)
|
|
|
NM_000350.3(ABCA4):c.2757A>G (p.Glu919=)
|
|
|
NM_000350.3(ABCA4):c.2759G>A (p.Arg920His)
|
rs376526710
|
|
NM_000350.3(ABCA4):c.2759G>T (p.Arg920Leu)
|
|
|
NM_000350.3(ABCA4):c.2770G>A (p.Gly924Arg)
|
rs2101057455
|
|
NM_000350.3(ABCA4):c.2772G>A (p.Gly924=)
|
rs371907790
|
|
NM_000350.3(ABCA4):c.2772G>T (p.Gly924=)
|
rs371907790
|
|
NM_000350.3(ABCA4):c.2778T>C (p.Val926=)
|
|
|
NM_000350.3(ABCA4):c.2781T>C (p.Pro927=)
|
rs1570378218
|
|
NM_000350.3(ABCA4):c.2782G>T (p.Gly928Trp)
|
rs398123337
|
|
NM_000350.3(ABCA4):c.2784G>A (p.Gly928=)
|
|
|
NM_000350.3(ABCA4):c.2785dup (p.Val929fs)
|
|
|
NM_000350.3(ABCA4):c.2788T>A (p.Cys930Ser)
|
rs2101057418
|
|
NM_000350.3(ABCA4):c.2790C>T (p.Cys930=)
|
|
|
NM_000350.3(ABCA4):c.2792T>C (p.Val931Ala)
|
|
|
NM_000350.3(ABCA4):c.27T>C (p.Leu9=)
|
|
|
NM_000350.3(ABCA4):c.2802G>C (p.Leu934=)
|
|
|
NM_000350.3(ABCA4):c.2803G>A (p.Val935Ile)
|
|
|
NM_000350.3(ABCA4):c.2804T>C (p.Val935Ala)
|
rs61749444
|
|
NM_000350.3(ABCA4):c.2805A>G (p.Val935=)
|
|
|
NM_000350.3(ABCA4):c.2807del (p.Lys936fs)
|
rs2101057370
|
|
NM_000350.3(ABCA4):c.2808G>C (p.Lys936Asn)
|
rs1660704375
|
|
NM_000350.3(ABCA4):c.2815G>C (p.Glu939Gln)
|
|
|
NM_000350.3(ABCA4):c.2815G>T (p.Glu939Ter)
|
rs786205447
|
|
NM_000350.3(ABCA4):c.2817G>A (p.Glu939=)
|
|
|
NM_000350.3(ABCA4):c.2820C>G (p.Pro940=)
|
rs61749445
|
|
NM_000350.3(ABCA4):c.2820del (p.Cys941fs)
|
|
|
NM_000350.3(ABCA4):c.2822G>T (p.Cys941Phe)
|
rs113503406
|
|
NM_000350.3(ABCA4):c.2823T>A (p.Cys941Ter)
|
|
|
NM_000350.3(ABCA4):c.2825G>T (p.Gly942Val)
|
|
|
NM_000350.3(ABCA4):c.2827C>G (p.Arg943Gly)
|
rs61749446
|
|
NM_000350.3(ABCA4):c.2827del (p.Arg943fs)
|
rs281865513
|
|
NM_000350.3(ABCA4):c.2828G>T (p.Arg943Leu)
|
rs1801581
|
|
NM_000350.3(ABCA4):c.2829del (p.Pro944fs)
|
rs1660702616
|
|
NM_000350.3(ABCA4):c.2832A>G (p.Pro944=)
|
|
|
NM_000350.3(ABCA4):c.2833G>A (p.Ala945Thr)
|
|
|
NM_000350.3(ABCA4):c.2852T>C (p.Ile951Thr)
|
rs1660702072
|
|
NM_000350.3(ABCA4):c.2859C>A (p.Phe953Leu)
|
|
|
NM_000350.3(ABCA4):c.2860T>G (p.Tyr954Asp)
|
rs61749447
|
|
NM_000350.3(ABCA4):c.2861A>C (p.Tyr954Ser)
|
rs1660701838
|
|
NM_000350.3(ABCA4):c.2863G>A (p.Glu955Lys)
|
rs765680067
|
|
NM_000350.3(ABCA4):c.2864A>G (p.Glu955Gly)
|
|
|
NM_000350.3(ABCA4):c.2865G>A (p.Glu955=)
|
|
|
NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys)
|
rs398123338
|
|
NM_000350.3(ABCA4):c.286A>C (p.Asn96His)
|
rs61748529
|
|
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)
|
rs61748529
|
|
NM_000350.3(ABCA4):c.2870A>C (p.Gln957Pro)
|
rs61749448
|
|
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala)
|
rs368846708
|
|
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser)
|
rs368846708
|
|
NM_000350.3(ABCA4):c.2876C>T (p.Thr959Ile)
|
rs61752409
|
|
NM_000350.3(ABCA4):c.2877C>G (p.Thr959=)
|
|
|
NM_000350.3(ABCA4):c.2879del (p.Ala960fs)
|
rs2101057149
|
|
NM_000350.3(ABCA4):c.287A>T (p.Asn96Ile)
|
rs2101162260
|
|
NM_000350.3(ABCA4):c.287del (p.Asn96fs)
|
rs1553196583
|
|
NM_000350.3(ABCA4):c.2884del (p.Leu962fs)
|
rs61750203
|
|
NM_000350.3(ABCA4):c.2887G>C (p.Gly963Arg)
|
rs1660700735
|
|
NM_000350.3(ABCA4):c.2888del (p.Gly963fs)
|
rs61752410
|
|
NM_000350.3(ABCA4):c.288C>A (p.Asn96Lys)
|
rs886039297
|
|
NM_000350.3(ABCA4):c.2891del (p.His964fs)
|
|
|
NM_000350.3(ABCA4):c.2893A>G (p.Asn965Asp)
|
rs61749449
|
|
NM_000350.3(ABCA4):c.2897G>A (p.Gly966Glu)
|
rs2101057095
|
|
NM_000350.3(ABCA4):c.2900C>T (p.Ala967Val)
|
rs1291080436
|
|
NM_000350.3(ABCA4):c.2902G>A (p.Gly968Arg)
|
rs794727220
|
|
NM_000350.3(ABCA4):c.2902G>C (p.Gly968Arg)
|
|
|
NM_000350.3(ABCA4):c.2904G>A (p.Gly968=)
|
|
|
NM_000350.3(ABCA4):c.2905A>G (p.Lys969Glu)
|
rs1660700260
|
|
NM_000350.3(ABCA4):c.2908del (p.Thr970fs)
|
rs2101057076
|
|
NM_000350.3(ABCA4):c.2909C>T (p.Thr970Ile)
|
rs1660700107
|
|
NM_000350.3(ABCA4):c.2911A>C (p.Thr971Pro)
|
rs745825311
|
|
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)
|
rs61749450
|
|
NM_000350.3(ABCA4):c.2914A>G (p.Thr972Ala)
|
|
|
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)
|
rs61749451
|
|
NM_000350.3(ABCA4):c.2915C>T (p.Thr972Ile)
|
rs61749451
|
|
NM_000350.3(ABCA4):c.2918+1G>A
|
|
|
NM_000350.3(ABCA4):c.2918+5G>A
|
|
|
NM_000350.3(ABCA4):c.2919-14C>G
|
|
|
NM_000350.3(ABCA4):c.2919-14C>T
|
|
|
NM_000350.3(ABCA4):c.2919-15G>A
|
|
|
NM_000350.3(ABCA4):c.2919-2_2925del
|
|
|
NM_000350.3(ABCA4):c.2919-383C>T
|
|
|
NM_000350.3(ABCA4):c.2919-9G>A
|
|
|
NM_000350.3(ABCA4):c.2922C>T (p.Ser974=)
|
rs757766297
|
|
NM_000350.3(ABCA4):c.2925C>G (p.Ile975Met)
|
|
|
NM_000350.3(ABCA4):c.2927T>C (p.Leu976Pro)
|
|
|
NM_000350.3(ABCA4):c.2928G>A (p.Leu976=)
|
|
|
NM_000350.3(ABCA4):c.2930C>G (p.Thr977Arg)
|
|
|
NM_000350.3(ABCA4):c.2932G>T (p.Gly978Cys)
|
rs61749452
|
|
NM_000350.3(ABCA4):c.2933G>A (p.Gly978Asp)
|
rs61749453
|
|
NM_000350.3(ABCA4):c.2933G>C (p.Gly978Ala)
|
rs61749453
|
|
NM_000350.3(ABCA4):c.2934T>C (p.Gly978=)
|
|
|
NM_000350.3(ABCA4):c.2939T>A (p.Leu980Ter)
|
|
|
NM_000350.3(ABCA4):c.2941C>G (p.Pro981Ala)
|
|
|
NM_000350.3(ABCA4):c.2941C>T (p.Pro981Ser)
|
|
|
NM_000350.3(ABCA4):c.2946A>T (p.Pro982=)
|
|
|
NM_000350.3(ABCA4):c.2946_2949del (p.Thr983fs)
|
rs2101053584
|
|
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala)
|
rs1368508052
|
|
NM_000350.3(ABCA4):c.2947A>T (p.Thr983Ser)
|
|
|
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile)
|
rs61752411
|
|
NM_000350.3(ABCA4):c.2955G>A (p.Gly985=)
|
rs2101053574
|
|
NM_000350.3(ABCA4):c.2957C>T (p.Thr986Ile)
|
rs1660624204
|
|
NM_000350.3(ABCA4):c.2961G>T (p.Val987=)
|
|
|
NM_000350.3(ABCA4):c.2967del (p.Gly991fs)
|
rs2101053527
|
|
NM_000350.3(ABCA4):c.296dup (p.Asn99fs)
|
rs62645948
|
|
NM_000350.3(ABCA4):c.2971G>A (p.Gly991Arg)
|
|
|
NM_000350.3(ABCA4):c.2971G>T (p.Gly991Ter)
|
rs61749455
|
|
NM_000350.3(ABCA4):c.2972G>T (p.Gly991Val)
|
rs1297410481
|
|
NM_000350.3(ABCA4):c.2972del (p.Gly991fs)
|
|
|
NM_000350.3(ABCA4):c.2974A>G (p.Arg992Gly)
|
|
|
NM_000350.3(ABCA4):c.2975G>A (p.Arg992Lys)
|
|
|
NM_000350.3(ABCA4):c.2977_2984del (p.Asp993fs)
|
rs281865401
|
|
NM_000350.3(ABCA4):c.2980_2987del (p.Ile994fs)
|
rs1306732480
|
|
NM_000350.3(ABCA4):c.2982T>C (p.Ile994=)
|
rs1660622253
|
|
NM_000350.3(ABCA4):c.2993T>C (p.Leu998Pro)
|
rs1660621523
|
|
NM_000350.3(ABCA4):c.2994G>A (p.Leu998=)
|
rs891025260
|
|
NM_000350.3(ABCA4):c.2999C>T (p.Ala1000Val)
|
rs781780151
|
|
NM_000350.3(ABCA4):c.2T>C (p.Met1Thr)
|
|
|
NM_000350.3(ABCA4):c.3006del (p.Gln1003fs)
|
rs2101053424
|
|
NM_000350.3(ABCA4):c.300C>T (p.Ser100=)
|
|
|
NM_000350.3(ABCA4):c.3016G>C (p.Gly1006Arg)
|
rs1660620409
|
|
NM_000350.3(ABCA4):c.3017G>T (p.Gly1006Val)
|
|
|
NM_000350.3(ABCA4):c.302+15C>T
|
rs201042274
|
|
NM_000350.3(ABCA4):c.302+20C>G
|
rs61753050
|
|
NM_000350.3(ABCA4):c.302+20_302+22del
|
|
|
NM_000350.3(ABCA4):c.302+4A>G
|
|
|
NM_000350.3(ABCA4):c.302+5G>C
|
|
|
NM_000350.3(ABCA4):c.302+8T>C
|
rs2101162172
|
|
NM_000350.3(ABCA4):c.3028C>T (p.Gln1010Ter)
|
rs1660619835
|
|
NM_000350.3(ABCA4):c.303-144G>C
|
rs191396638
|
|
NM_000350.3(ABCA4):c.303-19T>G
|
|
|
NM_000350.3(ABCA4):c.303-71del
|
rs4147877
|
|
NM_000350.3(ABCA4):c.3030G>A (p.Gln1010=)
|
|
|
NM_000350.3(ABCA4):c.3032ACA[1] (p.Asn1012del)
|
|
|
NM_000350.3(ABCA4):c.3033C>T (p.His1011=)
|
|
|
NM_000350.3(ABCA4):c.3039_3041dup (p.Leu1014_Phe1015insLeu)
|
rs1660619507
|
|
NM_000350.3(ABCA4):c.3045C>T (p.Phe1015=)
|
rs1570374877
|
|
NM_000350.3(ABCA4):c.304T>C (p.Leu102=)
|
|
|
NM_000350.3(ABCA4):c.3050+18T>C
|
|
|
NM_000350.3(ABCA4):c.3050+1G>A
|
rs1660619132
|
|
NM_000350.3(ABCA4):c.3050+362_3050+370del
|
rs1056176825
|
|
NM_000350.3(ABCA4):c.3050+363_3050+390del
|
|
|
NM_000350.3(ABCA4):c.3050+370C>T
|
|
|
NM_000350.3(ABCA4):c.3050+4dup
|
rs2101053365
|
|
NM_000350.3(ABCA4):c.3050+509A>G
|
rs56703905
|
|
NM_000350.3(ABCA4):c.3050+7G>A
|
|
|
NM_000350.3(ABCA4):c.3051-15G>A
|
rs200223777
|
|
NM_000350.3(ABCA4):c.3051-15G>T
|
rs200223777
|
|
NM_000350.3(ABCA4):c.3051-16T>A
|
rs1064793009
|
|
NM_000350.3(ABCA4):c.3051-18G>C
|
rs757046756
|
|
NM_000350.3(ABCA4):c.3051-19C>G
|
rs375804885
|
|
NM_000350.3(ABCA4):c.3051-19C>T
|
|
|
NM_000350.3(ABCA4):c.3051-1G>C
|
rs2101051637
|
|
NM_000350.3(ABCA4):c.3051-297dup
|
rs4147890
|
|
NM_000350.3(ABCA4):c.3051-3T>C
|
|
|
NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala)
|
rs61749457
|
|
NM_000350.3(ABCA4):c.3057G>T (p.Thr1019=)
|
rs61749458
|
|
NM_000350.3(ABCA4):c.3060G>A (p.Val1020=)
|
|
|
NM_000350.3(ABCA4):c.3062del (p.Ala1021fs)
|
rs1570373408
|
|
NM_000350.3(ABCA4):c.3064G>T (p.Glu1022Ter)
|
rs61749459
|
|
NM_000350.3(ABCA4):c.3065A>G (p.Glu1022Gly)
|
|
|
NM_000350.3(ABCA4):c.3066G>C (p.Glu1022Asp)
|
rs2101051595
|
|
NM_000350.3(ABCA4):c.3070A>G (p.Met1024Val)
|
|
|
NM_000350.3(ABCA4):c.3071T>A (p.Met1024Lys)
|
rs2101051584
|
|
NM_000350.3(ABCA4):c.3073C>G (p.Leu1025Val)
|
|
|
NM_000350.3(ABCA4):c.3074T>C (p.Leu1025Pro)
|
rs1660575947
|
|
NM_000350.3(ABCA4):c.3075G>A (p.Leu1025=)
|
|
|
NM_000350.3(ABCA4):c.3081T>G (p.Tyr1027Ter)
|
rs1553190664
|
|
NM_000350.3(ABCA4):c.3083C>T (p.Ala1028Val)
|
rs121909204
|
|
NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter)
|
rs61751397
|
|
NM_000350.3(ABCA4):c.3091A>G (p.Lys1031Glu)
|
rs61750060
|
|
NM_000350.3(ABCA4):c.3091A>T (p.Lys1031Ter)
|
rs61750060
|
|
NM_000350.3(ABCA4):c.3093del (p.Gly1032fs)
|
rs886044735
|
|
NM_000350.3(ABCA4):c.3099G>A (p.Lys1033=)
|
rs772300002
|
|
NM_000350.3(ABCA4):c.30_32del (p.Leu10_Leu11delinsPhe)
|
|
|
NM_000350.3(ABCA4):c.3103dup (p.Gln1035fs)
|
|
|
NM_000350.3(ABCA4):c.3105G>A (p.Gln1035=)
|
rs2101051486
|
|
NM_000350.3(ABCA4):c.3114C>G (p.Ala1038=)
|
|
|
NM_000350.3(ABCA4):c.3114C>T (p.Ala1038=)
|
|
|
NM_000350.3(ABCA4):c.3117dup (p.Leu1040fs)
|
rs2101051468
|
|
NM_000350.3(ABCA4):c.3119T>C (p.Leu1040Pro)
|
|
|
NM_000350.3(ABCA4):c.3120G>A (p.Leu1040=)
|
|
|
NM_000350.3(ABCA4):c.312G>A (p.Arg104=)
|
|
|
NM_000350.3(ABCA4):c.3134T>C (p.Met1045Thr)
|
|
|
NM_000350.3(ABCA4):c.3138G>A (p.Leu1046=)
|
|
|
NM_000350.3(ABCA4):c.3139del (p.Glu1047fs)
|
rs886042904
|
|
NM_000350.3(ABCA4):c.3146_3147del (p.Thr1049fs)
|
|
|
NM_000350.3(ABCA4):c.3148G>A (p.Gly1050Ser)
|
|
|
NM_000350.3(ABCA4):c.3165G>A (p.Arg1055=)
|
|
|
NM_000350.3(ABCA4):c.3172G>C (p.Glu1058Gln)
|
rs1265535267
|
|
NM_000350.3(ABCA4):c.3175G>T (p.Ala1059Ser)
|
|
|
NM_000350.3(ABCA4):c.3179A>C (p.Gln1060Pro)
|
rs772663974
|
|
NM_000350.3(ABCA4):c.3183C>T (p.Asp1061=)
|
|
|
NM_000350.3(ABCA4):c.3184C>T (p.Leu1062=)
|
|
|
NM_000350.3(ABCA4):c.3187T>C (p.Ser1063Pro)
|
rs61752413
|
|
NM_000350.3(ABCA4):c.318T>G (p.Tyr106Ter)
|
|
|
NM_000350.3(ABCA4):c.3190+16T>C
|
|
|
NM_000350.3(ABCA4):c.3190+16T>G
|
|
|
NM_000350.3(ABCA4):c.3190+1G>T
|
rs61752414
|
|
NM_000350.3(ABCA4):c.3190+2_3190+18del
|
|
|
NM_000350.3(ABCA4):c.3190+83A>T
|
rs61754035
|
|
NM_000350.3(ABCA4):c.3190G>A (p.Gly1064Ser)
|
rs2101051331
|
|
NM_000350.3(ABCA4):c.3191-10G>A
|
|
|
NM_000350.3(ABCA4):c.3191-2A>G
|
rs61752415
|
|
NM_000350.3(ABCA4):c.3191-3dup
|
rs1260181788
|
|
NM_000350.3(ABCA4):c.3191-7C>T
|
|
|
NM_000350.3(ABCA4):c.3191-9T>C
|
|
|
NM_000350.3(ABCA4):c.3191G>A (p.Gly1064Asp)
|
rs2101050759
|
|
NM_000350.3(ABCA4):c.3192T>A (p.Gly1064=)
|
|
|
NM_000350.3(ABCA4):c.319C>G (p.Arg107Gly)
|
|
|
NM_000350.3(ABCA4):c.3205A>G (p.Lys1069Glu)
|
|
|
NM_000350.3(ABCA4):c.3205_3206dup (p.Leu1070fs)
|
rs61750063
|
|
NM_000350.3(ABCA4):c.3210G>C (p.Leu1070=)
|
rs113398504
|
|
NM_000350.3(ABCA4):c.3210G>T (p.Leu1070=)
|
|
|
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)
|
rs387906385
|
|
NM_000350.3(ABCA4):c.3216T>C (p.Val1072=)
|
rs61750066
|
|
NM_000350.3(ABCA4):c.3219C>G (p.Ala1073=)
|
rs2101050684
|
|
NM_000350.3(ABCA4):c.3219_3220insGCA (p.Ala1073_Ile1074insAla)
|
rs2101050681
|
|
NM_000350.3(ABCA4):c.3223G>A (p.Ala1075Thr)
|
|
|
NM_000350.3(ABCA4):c.3224C>T (p.Ala1075Val)
|
|
|
NM_000350.3(ABCA4):c.3235G>A (p.Asp1079Asn)
|
|
|
NM_000350.3(ABCA4):c.3241_3253delinsTTTGTGGGAGATG (p.Lys1081_Leu1085delinsPheValGlyAspVal)
|
rs1660531880
|
|
NM_000350.3(ABCA4):c.3248T>A (p.Val1083Glu)
|
rs1660531924
|
|
NM_000350.3(ABCA4):c.3258C>G (p.Asp1086Glu)
|
|
|
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp)
|
rs61752416
|
|
NM_000350.3(ABCA4):c.3262C>T (p.Pro1088Ser)
|
rs1553190579
|
|
NM_000350.3(ABCA4):c.3263C>G (p.Pro1088Arg)
|
rs1660531525
|
|
NM_000350.3(ABCA4):c.3263C>T (p.Pro1088Leu)
|
rs1660531525
|
|
NM_000350.3(ABCA4):c.3266C>T (p.Thr1089Ile)
|
|
|
NM_000350.3(ABCA4):c.3268T>C (p.Ser1090Pro)
|
rs1131691351
|
|
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu)
|
rs61752417
|
|
NM_000350.3(ABCA4):c.3272G>T (p.Gly1091Val)
|
|
|
NM_000350.3(ABCA4):c.3277G>A (p.Asp1093Asn)
|
rs2101050587
|
|
NM_000350.3(ABCA4):c.3278A>G (p.Asp1093Gly)
|
rs61752418
|
|
NM_000350.3(ABCA4):c.3278A>T (p.Asp1093Val)
|
|
|
NM_000350.3(ABCA4):c.327dup (p.Gln110fs)
|
rs61748531
|
|
NM_000350.3(ABCA4):c.3280C>A (p.Pro1094Thr)
|
|
|
NM_000350.3(ABCA4):c.3281C>A (p.Pro1094His)
|
rs2101050573
|
|
NM_000350.3(ABCA4):c.3281C>G (p.Pro1094Arg)
|
|
|
NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu)
|
rs763267492
|
|
NM_000350.3(ABCA4):c.3288G>A (p.Ser1096=)
|
|
|
NM_000350.3(ABCA4):c.3289A>T (p.Arg1097Ter)
|
rs886044731
|
|
NM_000350.3(ABCA4):c.328C>T (p.Gln110Ter)
|
rs2101156053
|
|
NM_000350.3(ABCA4):c.328delinsNNNNNNNNNNNAAAAAAAAAAA (p.Gln110delinsXaaXaaXaaXaaLysLysLysLys)
|
rs2101156061
|
|
NM_000350.3(ABCA4):c.3294C>T (p.Arg1098=)
|
|
|
NM_000350.3(ABCA4):c.3295T>C (p.Ser1099Pro)
|
rs61750119
|
|
NM_000350.3(ABCA4):c.3296C>G (p.Ser1099Ter)
|
rs776773510
|
|
NM_000350.3(ABCA4):c.3299T>A (p.Ile1100Asn)
|
rs1553190559
|
|
NM_000350.3(ABCA4):c.3299T>C (p.Ile1100Thr)
|
rs1553190559
|
|
NM_000350.3(ABCA4):c.329A>C (p.Gln110Pro)
|
rs2101156046
|
|
NM_000350.3(ABCA4):c.3300C>G (p.Ile1100Met)
|
rs2101050504
|
|
NM_000350.3(ABCA4):c.3302G>A (p.Trp1101Ter)
|
rs373868915
|
|
NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter)
|
rs61752419
|
|
NM_000350.3(ABCA4):c.3304G>A (p.Asp1102Asn)
|
rs138641544
|
|
NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr)
|
rs138641544
|
|
NM_000350.3(ABCA4):c.3305A>C (p.Asp1102Ala)
|
rs143689372
|
|
NM_000350.3(ABCA4):c.3305A>T (p.Asp1102Val)
|
rs143689372
|
|
NM_000350.3(ABCA4):c.3308T>C (p.Leu1103Pro)
|
|
|
NM_000350.3(ABCA4):c.3308T>G (p.Leu1103Arg)
|
|
|
NM_000350.3(ABCA4):c.3318G>T (p.Lys1106Asn)
|
|
|
NM_000350.3(ABCA4):c.331_332del (p.Glu111fs)
|
rs749252902
|
|
NM_000350.3(ABCA4):c.331del (p.Glu111fs)
|
rs2101156021
|
|
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu)
|
rs61750121
|
|
NM_000350.3(ABCA4):c.3324C>T (p.Arg1108=)
|
|
|
NM_000350.3(ABCA4):c.3328+14C>T
|
|
|
NM_000350.3(ABCA4):c.3328+16C>T
|
|
|
NM_000350.3(ABCA4):c.3328+17A>C
|
|
|
NM_000350.3(ABCA4):c.3328+1G>A
|
rs1660527478
|
|
NM_000350.3(ABCA4):c.3328+2T>A
|
rs1660527423
|
|
NM_000350.3(ABCA4):c.3328+645T>C
|
|
|
NM_000350.3(ABCA4):c.3329-112del
|
rs4147891
|
|
NM_000350.3(ABCA4):c.3329-13C>T
|
|
|
NM_000350.3(ABCA4):c.3329-14C>T
|
|
|
NM_000350.3(ABCA4):c.3329-19C>T
|
|
|
NM_000350.3(ABCA4):c.3329-3C>A
|
rs2101048782
|
|
NM_000350.3(ABCA4):c.3329-7C>T
|
rs2101048788
|
|
NM_000350.3(ABCA4):c.3330C>A (p.Gly1110=)
|
rs762909447
|
|
NM_000350.3(ABCA4):c.3336C>A (p.Thr1112=)
|
|
|
NM_000350.3(ABCA4):c.3336C>G (p.Thr1112=)
|
|
|
NM_000350.3(ABCA4):c.333A>G (p.Glu111=)
|
|
|
NM_000350.3(ABCA4):c.3352C>A (p.His1118Asn)
|
|
|
NM_000350.3(ABCA4):c.3352C>G (p.His1118Asp)
|
rs369440533
|
|
NM_000350.3(ABCA4):c.3354C>G (p.His1118Gln)
|
|
|
NM_000350.3(ABCA4):c.3354C>T (p.His1118=)
|
|
|
NM_000350.3(ABCA4):c.3358_3363del (p.Met1120_Asp1121del)
|
|
|
NM_000350.3(ABCA4):c.3361G>C (p.Asp1121His)
|
rs2101048716
|
|
NM_000350.3(ABCA4):c.3363C>A (p.Asp1121Glu)
|
|
|
NM_000350.3(ABCA4):c.3366G>C (p.Glu1122Asp)
|
rs61750123
|
|
NM_000350.3(ABCA4):c.3369C>T (p.Ala1123=)
|
|
|
NM_000350.3(ABCA4):c.336C>A (p.Leu112=)
|
rs761605129
|
|
NM_000350.3(ABCA4):c.336C>T (p.Leu112=)
|
|
|
NM_000350.3(ABCA4):c.3371A>G (p.Asp1124Gly)
|
rs1660481445
|
|
NM_000350.3(ABCA4):c.3376C>G (p.Leu1126Val)
|
rs1660481292
|
|
NM_000350.3(ABCA4):c.3377T>C (p.Leu1126Pro)
|
rs1047376
|
|
NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu)
|
rs1570370929
|
|
NM_000350.3(ABCA4):c.3384C>A (p.Asp1128Glu)
|
|
|
NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His)
|
rs1801269
|
|
NM_000350.3(ABCA4):c.3389T>C (p.Ile1130Thr)
|
rs1064793010
|
|
NM_000350.3(ABCA4):c.3392_3393delinsG (p.Ala1131fs)
|
|
|
NM_000350.3(ABCA4):c.3393del (p.Ile1132fs)
|
rs61750124
|
|
NM_000350.3(ABCA4):c.3395T>C (p.Ile1132Thr)
|
|
|
NM_000350.3(ABCA4):c.3398T>C (p.Ile1133Thr)
|
rs1432207212
|
|
NM_000350.3(ABCA4):c.3407G>A (p.Gly1136Glu)
|
rs1660480045
|
|
NM_000350.3(ABCA4):c.3407G>T (p.Gly1136Val)
|
rs1660480045
|
|
NM_000350.3(ABCA4):c.3411G>A (p.Arg1137=)
|
|
|
NM_000350.3(ABCA4):c.3412C>T (p.Leu1138Phe)
|
|
|
NM_000350.3(ABCA4):c.3413T>A (p.Leu1138His)
|
rs1287053724
|
|
NM_000350.3(ABCA4):c.3420C>G (p.Cys1140Trp)
|
rs2101048569
|
|
NM_000350.3(ABCA4):c.3426C>T (p.Gly1142=)
|
|
|
NM_000350.3(ABCA4):c.3429C>T (p.Thr1143=)
|
|
|
NM_000350.3(ABCA4):c.3432A>G (p.Pro1144=)
|
|
|
NM_000350.3(ABCA4):c.3434T>G (p.Leu1145Arg)
|
rs1660479149
|
|
NM_000350.3(ABCA4):c.3439del (p.Phe1146_Leu1147insTer)
|
rs61752420
|
|
NM_000350.3(ABCA4):c.3465G>A (p.Leu1155=)
|
rs776603655
|
|
NM_000350.3(ABCA4):c.3470T>G (p.Leu1157Ter)
|
rs2101048479
|
|
NM_000350.3(ABCA4):c.3474C>T (p.Thr1158=)
|
|
|
NM_000350.3(ABCA4):c.3495C>T (p.Asn1165=)
|
rs1409944940
|
|
NM_000350.3(ABCA4):c.3508A>C (p.Arg1170=)
|
|
|
NM_000350.3(ABCA4):c.3518G>A (p.Ser1173Asn)
|
rs1210484040
|
|
NM_000350.3(ABCA4):c.3522+10T>G
|
rs763137165
|
|
NM_000350.3(ABCA4):c.3522+18G>A
|
rs753755944
|
|
NM_000350.3(ABCA4):c.3522+18G>C
|
rs753755944
|
|
NM_000350.3(ABCA4):c.3522+1G>A
|
rs1265840106
|
|
NM_000350.3(ABCA4):c.3522+1G>T
|
|
|
NM_000350.3(ABCA4):c.3522+7G>A
|
|
|
NM_000350.3(ABCA4):c.3523-15A>G
|
|
|
NM_000350.3(ABCA4):c.3523-17C>T
|
|
|
NM_000350.3(ABCA4):c.3523-18C>T
|
|
|
NM_000350.3(ABCA4):c.3523-19T>G
|
|
|
NM_000350.3(ABCA4):c.3523-3C>G
|
|
|
NM_000350.3(ABCA4):c.3523-4G>T
|
|
|
NM_000350.3(ABCA4):c.3523-8T>G
|
rs1660449762
|
|
NM_000350.3(ABCA4):c.3527_3528insTGCA (p.Cys1177fs)
|
rs62645954
|
|
NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs)
|
rs886044736
|
|
NM_000350.3(ABCA4):c.3531C>A (p.Cys1177Ter)
|
rs61750125
|
|
NM_000350.3(ABCA4):c.3532del (p.Ser1178fs)
|
rs2101047091
|
|
NM_000350.3(ABCA4):c.3533G>A (p.Ser1178Asn)
|
rs760620913
|
|
NM_000350.3(ABCA4):c.3543del (p.Lys1182fs)
|
|
|
NM_000350.3(ABCA4):c.3545A>G (p.Lys1182Arg)
|
|
|
NM_000350.3(ABCA4):c.3552C>T (p.Phe1184=)
|
|
|
NM_000350.3(ABCA4):c.355_356del (p.Ser119fs)
|
|
|
NM_000350.3(ABCA4):c.3560C>A (p.Thr1187Lys)
|
rs1266156413
|
|
NM_000350.3(ABCA4):c.3564T>A (p.Cys1188Ter)
|
rs2101047010
|
|
NM_000350.3(ABCA4):c.3564_3566delinsAAG (p.Cys1188_Pro1189delinsTer)
|
|
|
NM_000350.3(ABCA4):c.3567A>G (p.Pro1189=)
|
|
|
NM_000350.3(ABCA4):c.3573C>T (p.His1191=)
|
|
|
NM_000350.3(ABCA4):c.3575T>C (p.Val1192Ala)
|
rs1370609179
|
|
NM_000350.3(ABCA4):c.3579T>C (p.Asp1193=)
|
|
|
NM_000350.3(ABCA4):c.3582C>A (p.Asp1194Glu)
|
rs886038285
|
|
NM_000350.3(ABCA4):c.3582C>T (p.Asp1194=)
|
|
|
NM_000350.3(ABCA4):c.358_361del (p.Gln120fs)
|
|
|
NM_000350.3(ABCA4):c.3594del (p.Glu1198fs)
|
|
|
NM_000350.3(ABCA4):c.3595C>T (p.Gln1199Ter)
|
rs137853898
|
|
NM_000350.3(ABCA4):c.3597A>G (p.Gln1199=)
|
|
|
NM_000350.3(ABCA4):c.3606T>A (p.Asp1202Glu)
|
rs2101046910
|
|
NM_000350.3(ABCA4):c.3607+12A>G
|
rs895044441
|
|
NM_000350.3(ABCA4):c.3607+14G>A
|
|
|
NM_000350.3(ABCA4):c.3607+1G>A
|
rs61752421
|
|
NM_000350.3(ABCA4):c.3607+32G>A
|
rs281865390
|
|
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg)
|
rs1064793011
|
|
NM_000350.3(ABCA4):c.370C>G (p.Arg124Gly)
|
|
|
NM_000350.3(ABCA4):c.372T>G (p.Arg124=)
|
|
|
NM_000350.3(ABCA4):c.377G>A (p.Trp126Ter)
|
|
|
NM_000350.3(ABCA4):c.378G>A (p.Trp126Ter)
|
|
|
NM_000350.3(ABCA4):c.37A>G (p.Lys13Glu)
|
rs1131691262
|
|
NM_000350.3(ABCA4):c.384G>A (p.Glu128=)
|
rs2101155846
|
|
NM_000350.3(ABCA4):c.3863-11T>C
|
|
|
NM_000350.3(ABCA4):c.3863-13T>A
|
|
|
NM_000350.3(ABCA4):c.3863-13TC[5]
|
|
|
NM_000350.3(ABCA4):c.3863-15A>C
|
|
|
NM_000350.3(ABCA4):c.3863-17T>A
|
|
|
NM_000350.3(ABCA4):c.3863-2A>G
|
|
|
NM_000350.3(ABCA4):c.3863-64del
|
rs4147892
|
|
NM_000350.3(ABCA4):c.3863-7A>G
|
|
|
NM_000350.3(ABCA4):c.3866G>A (p.Gly1289Asp)
|
rs745511918
|
|
NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter)
|
rs746541266
|
|
NM_000350.3(ABCA4):c.387A>G (p.Leu129=)
|
rs1327990482
|
|
NM_000350.3(ABCA4):c.3888C>T (p.Asn1296=)
|
|
|
NM_000350.3(ABCA4):c.3899G>T (p.Arg1300Leu)
|
|
|
NM_000350.3(ABCA4):c.389A>G (p.His130Arg)
|
|
|
NM_000350.3(ABCA4):c.389_394del (p.His130_Ile131del)
|
rs1662505763
|
|
NM_000350.3(ABCA4):c.38_46del (p.Lys13_Trp15del)
|
rs62645956
|
|
NM_000350.3(ABCA4):c.3906C>T (p.Pro1302=)
|
|
|
NM_000350.3(ABCA4):c.3907del (p.Cys1303fs)
|
|
|
NM_000350.3(ABCA4):c.3909C>T (p.Cys1303=)
|
|
|
NM_000350.3(ABCA4):c.3924G>A (p.Glu1308=)
|
|
|
NM_000350.3(ABCA4):c.3924G>C (p.Glu1308Asp)
|
|
|
NM_000350.3(ABCA4):c.3928_3932dup (p.Gln1312fs)
|
rs2101037211
|
|
NM_000350.3(ABCA4):c.392T>C (p.Ile131Thr)
|
|
|
NM_000350.3(ABCA4):c.3934dup (p.Gln1312fs)
|
rs1660218703
|
|
NM_000350.3(ABCA4):c.3943C>T (p.Gln1315Ter)
|
rs1660218357
|
|
NM_000350.3(ABCA4):c.3946G>T (p.Asp1316Tyr)
|
|
|
NM_000350.3(ABCA4):c.3948C>T (p.Asp1316=)
|
|
|
NM_000350.3(ABCA4):c.3951del (p.Asn1318fs)
|
rs2101037158
|
|
NM_000350.3(ABCA4):c.3954T>C (p.Asn1318=)
|
|
|
NM_000350.3(ABCA4):c.3960C>T (p.Cys1320=)
|
|
|
NM_000350.3(ABCA4):c.3970del (p.Ala1324fs)
|
rs1660217584
|
|
NM_000350.3(ABCA4):c.3971C>A (p.Ala1324Glu)
|
rs369361520
|
|
NM_000350.3(ABCA4):c.3977C>G (p.Ala1326Gly)
|
rs761989194
|
|
NM_000350.3(ABCA4):c.3986del (p.Pro1329fs)
|
|
|
NM_000350.3(ABCA4):c.3988G>T (p.Glu1330Ter)
|
|
|
NM_000350.3(ABCA4):c.3999_4000insACCCCAGAGCCAGAGTGCCAGCCT (p.Pro1333_Pro1334insThrProGluProGluCysGlnPro)
|
rs1660216238
|
|
NM_000350.3(ABCA4):c.39G>A (p.Lys13=)
|
|
|
NM_000350.3(ABCA4):c.3G>T (p.Met1Ile)
|
rs886041554
|
|
NM_000350.3(ABCA4):c.4003_4004del (p.Pro1335fs)
|
rs1571265241
|
|
NM_000350.3(ABCA4):c.4006G>C (p.Glu1336Gln)
|
|
|
NM_000350.3(ABCA4):c.4008G>T (p.Glu1336Asp)
|
rs772961093
|
|
NM_000350.3(ABCA4):c.4014G>A (p.Glu1338=)
|
|
|
NM_000350.3(ABCA4):c.4020A>G (p.Pro1340=)
|
|
|
NM_000350.3(ABCA4):c.4023C>A (p.Gly1341=)
|
|
|
NM_000350.3(ABCA4):c.4023C>T (p.Gly1341=)
|
rs1481129047
|
|
NM_000350.3(ABCA4):c.4026G>T (p.Pro1342=)
|
|
|
NM_000350.3(ABCA4):c.4030C>G (p.Leu1344Val)
|
|
|
NM_000350.3(ABCA4):c.4036_4037del (p.Thr1346fs)
|
rs61751401
|
|
NM_000350.3(ABCA4):c.4036_4037dup (p.Gly1347fs)
|
rs61751401
|
|
NM_000350.3(ABCA4):c.4040G>A (p.Gly1347Glu)
|
|
|
NM_000350.3(ABCA4):c.4041G>C (p.Gly1347=)
|
|
|
NM_000350.3(ABCA4):c.4048C>T (p.Leu1350=)
|
|
|
NM_000350.3(ABCA4):c.4049T>C (p.Leu1350Pro)
|
rs1064793012
|
|
NM_000350.3(ABCA4):c.4057C>T (p.Gln1353Ter)
|
rs2101036893
|
|
NM_000350.3(ABCA4):c.4059G>A (p.Gln1353=)
|
|
|
NM_000350.3(ABCA4):c.4061A>C (p.His1354Pro)
|
rs2101036888
|
|
NM_000350.3(ABCA4):c.4067A>C (p.Gln1356Pro)
|
rs994570602
|
|
NM_000350.3(ABCA4):c.406A>G (p.Met136Val)
|
rs1372134179
|
|
NM_000350.3(ABCA4):c.4070C>A (p.Ala1357Glu)
|
rs552517556
|
|
NM_000350.3(ABCA4):c.4070C>T (p.Ala1357Val)
|
rs552517556
|
|
NM_000350.3(ABCA4):c.4073T>C (p.Leu1358Pro)
|
rs61752429
|
|
NM_000350.3(ABCA4):c.4079T>A (p.Val1360Asp)
|
rs1660213080
|
|
NM_000350.3(ABCA4):c.4080C>G (p.Val1360=)
|
rs2101036844
|
|
NM_000350.3(ABCA4):c.4092A>C (p.Gln1364His)
|
rs1660212835
|
|
NM_000350.3(ABCA4):c.4098C>T (p.Thr1366=)
|
|
|
NM_000350.3(ABCA4):c.4099_4102dup (p.Arg1368fs)
|
|
|
NM_000350.3(ABCA4):c.4101C>T (p.Ile1367=)
|
|
|
NM_000350.3(ABCA4):c.4102C>T (p.Arg1368Cys)
|
rs1183074086
|
|
NM_000350.3(ABCA4):c.4103G>T (p.Arg1368Leu)
|
rs761163530
|
|
NM_000350.3(ABCA4):c.4108del (p.His1370fs)
|
rs1571265125
|
|
NM_000350.3(ABCA4):c.4119C>T (p.Phe1373=)
|
|
|
NM_000350.3(ABCA4):c.4122G>A (p.Leu1374=)
|
|
|
NM_000350.3(ABCA4):c.4123G>A (p.Ala1375Thr)
|
|
|
NM_000350.3(ABCA4):c.4128+11C>A
|
|
|
NM_000350.3(ABCA4):c.4128+15C>G
|
|
|
NM_000350.3(ABCA4):c.4128+15del
|
rs879181227
|
|
NM_000350.3(ABCA4):c.4128+16G>C
|
|
|
NM_000350.3(ABCA4):c.4128+16G>T
|
|
|
NM_000350.3(ABCA4):c.4128+19_4128+20insGCTCC
|
rs2101036702
|
|
NM_000350.3(ABCA4):c.4128+1G>A
|
rs2101036750
|
|
NM_000350.3(ABCA4):c.4128+2T>C
|
|
|
NM_000350.3(ABCA4):c.4128+8T>G
|
|
|
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=)
|
rs1064797113
|
|
NM_000350.3(ABCA4):c.4128G>C (p.Gln1376His)
|
rs1064797113
|
|
NM_000350.3(ABCA4):c.4129-14C>A
|
|
|
NM_000350.3(ABCA4):c.4129-14C>T
|
|
|
NM_000350.3(ABCA4):c.4129-17C>A
|
|
|
NM_000350.3(ABCA4):c.4129-19C>A
|
|
|
NM_000350.3(ABCA4):c.4129-35A>T
|
rs61754042
|
|
NM_000350.3(ABCA4):c.4129-59G>A
|
|
|
NM_000350.3(ABCA4):c.4129-71A>T
|
rs61754043
|
|
NM_000350.3(ABCA4):c.4129-9C>A
|
|
|
NM_000350.3(ABCA4):c.4129A>G (p.Ile1377Val)
|
rs1327707460
|
|
NM_000350.3(ABCA4):c.4129A>T (p.Ile1377Phe)
|
|
|
NM_000350.3(ABCA4):c.4131C>A (p.Ile1377=)
|
rs145681797
|
|
NM_000350.3(ABCA4):c.4131C>T (p.Ile1377=)
|
|
|
NM_000350.3(ABCA4):c.4136T>C (p.Leu1379Pro)
|
rs1660190269
|
|
NM_000350.3(ABCA4):c.4140G>T (p.Pro1380=)
|
|
|
NM_000350.3(ABCA4):c.4145C>T (p.Thr1382Ile)
|
rs1660189911
|
|
NM_000350.3(ABCA4):c.4146C>T (p.Thr1382=)
|
|
|
NM_000350.3(ABCA4):c.414C>A (p.Thr138=)
|
|
|
NM_000350.3(ABCA4):c.4159G>A (p.Ala1387Thr)
|
|
|
NM_000350.3(ABCA4):c.415C>T (p.Leu139Phe)
|
rs983831765
|
|
NM_000350.3(ABCA4):c.4163T>C (p.Leu1388Pro)
|
rs61750131
|
|
NM_000350.3(ABCA4):c.4166T>A (p.Met1389Lys)
|
|
|
NM_000350.3(ABCA4):c.4173T>C (p.Ser1391=)
|
|
|
NM_000350.3(ABCA4):c.4184C>T (p.Pro1395Leu)
|
rs1047379
|
|
NM_000350.3(ABCA4):c.4185T>G (p.Pro1395=)
|
|
|
NM_000350.3(ABCA4):c.4193del (p.Gly1398fs)
|
|
|
NM_000350.3(ABCA4):c.419G>C (p.Arg140Pro)
|
rs369105023
|
|
NM_000350.3(ABCA4):c.4200C>T (p.Tyr1400=)
|
rs61750132
|
|
NM_000350.3(ABCA4):c.4201C>G (p.Pro1401Ala)
|
rs1305455299
|
|
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=)
|
rs1801666
|
|
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=)
|
rs1801666
|
|
NM_000350.3(ABCA4):c.4204G>T (p.Ala1402Ser)
|
rs554101094
|
|
NM_000350.3(ABCA4):c.4205dup (p.Leu1403fs)
|
rs2101035787
|
|
NM_000350.3(ABCA4):c.4206T>A (p.Ala1402=)
|
rs2101035782
|
|
NM_000350.3(ABCA4):c.4215T>C (p.Leu1405=)
|
rs2101035767
|
|
NM_000350.3(ABCA4):c.4216C>T (p.His1406Tyr)
|
rs61750133
|
|
NM_000350.3(ABCA4):c.4217A>G (p.His1406Arg)
|
rs1660186858
|
|
NM_000350.3(ABCA4):c.4219C>T (p.Pro1407Ser)
|
|
|
NM_000350.3(ABCA4):c.4220C>T (p.Pro1407Leu)
|
rs1064797091
|
|
NM_000350.3(ABCA4):c.4223G>A (p.Trp1408Ter)
|
rs61750134
|
|
NM_000350.3(ABCA4):c.4223G>T (p.Trp1408Leu)
|
rs61750134
|
|
NM_000350.3(ABCA4):c.4225A>G (p.Ile1409Val)
|
rs2101035728
|
|
NM_000350.3(ABCA4):c.4228T>G (p.Tyr1410Asp)
|
rs1660186211
|
|
NM_000350.3(ABCA4):c.4228_4231dup (p.Gly1411fs)
|
rs61750136
|
|
NM_000350.3(ABCA4):c.4229A>G (p.Tyr1410Cys)
|
rs1660186110
|
|
NM_000350.3(ABCA4):c.4233G>T (p.Gly1411=)
|
|
|
NM_000350.3(ABCA4):c.4237C>T (p.Gln1413Ter)
|
rs2101035684
|
|
NM_000350.3(ABCA4):c.4239G>A (p.Gln1413=)
|
|
|
NM_000350.3(ABCA4):c.4239G>C (p.Gln1413His)
|
rs1201535434
|
|
NM_000350.3(ABCA4):c.4242C>T (p.Tyr1414=)
|
|
|
NM_000350.3(ABCA4):c.4246TTC[1] (p.Phe1417del)
|
rs1467000353
|
|
NM_000350.3(ABCA4):c.424C>T (p.His142Tyr)
|
rs1085307835
|
|
NM_000350.3(ABCA4):c.4252A>G (p.Ser1418Gly)
|
rs2101035661
|
|
NM_000350.3(ABCA4):c.4253+11T>C
|
|
|
NM_000350.3(ABCA4):c.4253+12C>T
|
|
|
NM_000350.3(ABCA4):c.4253+16G>A
|
|
|
NM_000350.3(ABCA4):c.4253+1G>A
|
rs61750139
|
|
NM_000350.3(ABCA4):c.4253+1G>T
|
rs61750139
|
|
NM_000350.3(ABCA4):c.4253+3G>C
|
rs1660184848
|
|
NM_000350.3(ABCA4):c.4253+5G>T
|
rs61750138
|
|
NM_000350.3(ABCA4):c.4254-12C>T
|
|
|
NM_000350.3(ABCA4):c.4254-171C>T
|
rs2297671
|
|
NM_000350.3(ABCA4):c.4254-19C>T
|
|
|
NM_000350.3(ABCA4):c.4254-1G>C
|
rs886044740
|
|
NM_000350.3(ABCA4):c.4254-2A>G
|
rs61752431
|
|
NM_000350.3(ABCA4):c.4254-5T>A
|
|
|
NM_000350.3(ABCA4):c.4254-5T>G
|
rs886044551
|
|
NM_000350.3(ABCA4):c.4258G>C (p.Asp1420His)
|
|
|
NM_000350.3(ABCA4):c.4263_4266dup (p.Gly1423fs)
|
|
|
NM_000350.3(ABCA4):c.4264C>T (p.Pro1422Ser)
|
rs2101035052
|
|
NM_000350.3(ABCA4):c.4268G>A (p.Gly1423Asp)
|
rs2101035044
|
|
NM_000350.3(ABCA4):c.427C>G (p.Pro143Ala)
|
|
|
NM_000350.3(ABCA4):c.4286T>C (p.Val1429Ala)
|
rs61752432
|
|
NM_000350.3(ABCA4):c.428del (p.Pro143fs)
|
rs1662504407
|
|
NM_000350.3(ABCA4):c.4290del (p.Ala1431fs)
|
|
|
NM_000350.3(ABCA4):c.4302_4352+128del
|
rs2101034641
|
|
NM_000350.3(ABCA4):c.4307A>T (p.Asn1436Ile)
|
|
|
NM_000350.3(ABCA4):c.4309A>T (p.Lys1437Ter)
|
rs1283350532
|
|
NM_000350.3(ABCA4):c.4312C>A (p.Pro1438Thr)
|
|
|
NM_000350.3(ABCA4):c.4313C>G (p.Pro1438Arg)
|
rs774582644
|
|
NM_000350.3(ABCA4):c.4313C>T (p.Pro1438Leu)
|
|
|
NM_000350.3(ABCA4):c.4316G>A (p.Gly1439Asp)
|
rs61750140
|
|
NM_000350.3(ABCA4):c.4318T>G (p.Phe1440Val)
|
rs61752433
|
|
NM_000350.3(ABCA4):c.4319T>C (p.Phe1440Ser)
|
rs61750141
|
|
NM_000350.3(ABCA4):c.4320T>C (p.Phe1440=)
|
rs2101034937
|
|
NM_000350.3(ABCA4):c.4324A>G (p.Asn1442Asp)
|
rs2101034926
|
|
NM_000350.3(ABCA4):c.4333C>T (p.Leu1445=)
|
|
|
NM_000350.3(ABCA4):c.4338G>A (p.Lys1446=)
|
|
|
NM_000350.3(ABCA4):c.4340A>T (p.Glu1447Val)
|
rs2101034896
|
|
NM_000350.3(ABCA4):c.4340_4343dup (p.Trp1449fs)
|
|
|
NM_000350.3(ABCA4):c.4346G>A (p.Trp1449Ter)
|
rs61750143
|
|
NM_000350.3(ABCA4):c.4352+15G>T
|
|
|
NM_000350.3(ABCA4):c.4352+1G>C
|
rs200967229
|
|
NM_000350.3(ABCA4):c.4352+2dup
|
rs2101034860
|
|
NM_000350.3(ABCA4):c.4352+32A>G
|
rs75424561
|
|
NM_000350.3(ABCA4):c.4352+54A>G
|
rs547806
|
|
NM_000350.3(ABCA4):c.4352+5G>T
|
rs1660166597
|
|
NM_000350.3(ABCA4):c.4352+61G>A
|
rs1478038032
|
|
NM_000350.3(ABCA4):c.4353-1G>C
|
|
|
NM_000350.3(ABCA4):c.4353-1G>T
|
rs61750144
|
|
NM_000350.3(ABCA4):c.4353-33C>G
|
rs72958466
|
|
NM_000350.3(ABCA4):c.4353-5A>G
|
|
|
NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter)
|
rs886044742
|
|
NM_000350.3(ABCA4):c.4356G>A (p.Glu1452=)
|
rs1270054065
|
|
NM_000350.3(ABCA4):c.4356G>T (p.Glu1452Asp)
|
|
|
NM_000350.3(ABCA4):c.4359C>G (p.Tyr1453Ter)
|
rs192656357
|
|
NM_000350.3(ABCA4):c.4362C>G (p.Pro1454=)
|
|
|
NM_000350.3(ABCA4):c.4363del (p.Cys1455fs)
|
rs2101033821
|
|
NM_000350.3(ABCA4):c.436del (p.Ile146fs)
|
rs2101155690
|
|
NM_000350.3(ABCA4):c.4374A>G (p.Ser1458=)
|
rs2101033799
|
|
NM_000350.3(ABCA4):c.4381T>C (p.Trp1461Arg)
|
|
|
NM_000350.3(ABCA4):c.4383G>A (p.Trp1461Ter)
|
rs1347261858
|
|
NM_000350.3(ABCA4):c.4383G>C (p.Trp1461Cys)
|
rs1347261858
|
|
NM_000350.3(ABCA4):c.4386_4411del (p.Lys1462fs)
|
|
|
NM_000350.3(ABCA4):c.4391C>T (p.Pro1464Leu)
|
rs761652443
|
|
NM_000350.3(ABCA4):c.4396G>T (p.Val1466Leu)
|
|
|
NM_000350.3(ABCA4):c.4398G>A (p.Val1466=)
|
|
|
NM_000350.3(ABCA4):c.4406A>C (p.Asn1469Thr)
|
|
|
NM_000350.3(ABCA4):c.4406A>G (p.Asn1469Ser)
|
rs745321062
|
|
NM_000350.3(ABCA4):c.4410C>T (p.Ile1470=)
|
rs2101033703
|
|
NM_000350.3(ABCA4):c.4414C>G (p.Gln1472Glu)
|
|
|
NM_000350.3(ABCA4):c.4414C>T (p.Gln1472Ter)
|
|
|
NM_000350.3(ABCA4):c.442+12T>C
|
|
|
NM_000350.3(ABCA4):c.442+14C>A
|
|
|
NM_000350.3(ABCA4):c.442+16G>A
|
|
|
NM_000350.3(ABCA4):c.442+2T>A
|
rs1662504014
|
|
NM_000350.3(ABCA4):c.442+6C>A
|
rs1287680518
|
|
NM_000350.3(ABCA4):c.442+7A>G
|
|
|
NM_000350.3(ABCA4):c.4423C>T (p.Gln1475Ter)
|
rs2101033677
|
|
NM_000350.3(ABCA4):c.4426A>G (p.Lys1476Glu)
|
|
|
NM_000350.3(ABCA4):c.4429C>T (p.Gln1477Ter)
|
rs794727531
|
|
NM_000350.3(ABCA4):c.443-11T>C
|
|
|
NM_000350.3(ABCA4):c.443-13T>C
|
|
|
NM_000350.3(ABCA4):c.443-19T>G
|
|
|
NM_000350.3(ABCA4):c.443-20T>A
|
|
|
NM_000350.3(ABCA4):c.443-20T>C
|
rs749763598
|
|
NM_000350.3(ABCA4):c.443-241del
|
rs4147878
|
|
NM_000350.3(ABCA4):c.443-244C>G
|
rs58269697
|
|
NM_000350.3(ABCA4):c.443-5T>C
|
rs918493891
|
|
NM_000350.3(ABCA4):c.4437G>A (p.Trp1479Ter)
|
rs1660139846
|
|
NM_000350.3(ABCA4):c.4444G>A (p.Val1482Ile)
|
|
|
NM_000350.3(ABCA4):c.4449C>T (p.Asn1483=)
|
|
|
NM_000350.3(ABCA4):c.4458A>C (p.Pro1486=)
|
|
|
NM_000350.3(ABCA4):c.4458A>T (p.Pro1486=)
|
rs754181190
|
|
NM_000350.3(ABCA4):c.445A>G (p.Arg149Gly)
|
|
|
NM_000350.3(ABCA4):c.4460C>G (p.Ser1487Cys)
|
rs2101033592
|
|
NM_000350.3(ABCA4):c.4461C>T (p.Ser1487=)
|
|
|
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr)
|
rs61750147
|
|
NM_000350.3(ABCA4):c.4467G>A (p.Arg1489=)
|
|
|
NM_000350.3(ABCA4):c.4468T>A (p.Cys1490Ser)
|
rs61750148
|
|
NM_000350.3(ABCA4):c.4468T>C (p.Cys1490Arg)
|
|
|
NM_000350.3(ABCA4):c.4468_4469dup (p.Ser1491fs)
|
rs2101033562
|
|
NM_000350.3(ABCA4):c.4480G>A (p.Glu1494Lys)
|
rs745454563
|
|
NM_000350.3(ABCA4):c.4484_4485del (p.Lys1495fs)
|
|
|
NM_000350.3(ABCA4):c.448G>T (p.Gly150Ter)
|
|
|
NM_000350.3(ABCA4):c.4491C>G (p.Thr1497=)
|
rs2101033519
|
|
NM_000350.3(ABCA4):c.4497G>A (p.Leu1499=)
|
|
|
NM_000350.3(ABCA4):c.4497G>T (p.Leu1499=)
|
|
|
NM_000350.3(ABCA4):c.4498C>T (p.Pro1500Ser)
|
|
|
NM_000350.3(ABCA4):c.44G>A (p.Trp15Ter)
|
rs2101191402
|
|
NM_000350.3(ABCA4):c.4500A>G (p.Pro1500=)
|
rs1571263368
|
|
NM_000350.3(ABCA4):c.4505G>T (p.Cys1502Phe)
|
rs1660137001
|
|
NM_000350.3(ABCA4):c.4506C>A (p.Cys1502Ter)
|
rs61750149
|
|
NM_000350.3(ABCA4):c.4515T>C (p.Gly1505=)
|
rs1443735812
|
|
NM_000350.3(ABCA4):c.4515_4521dup (p.Gly1508fs)
|
rs2101033438
|
|
NM_000350.3(ABCA4):c.4519G>T (p.Gly1507Trp)
|
rs568792949
|
|
NM_000350.3(ABCA4):c.4520G>C (p.Gly1507Ala)
|
|
|
NM_000350.3(ABCA4):c.4523G>T (p.Gly1508Val)
|
rs2101033431
|
|
NM_000350.3(ABCA4):c.4527C>T (p.Leu1509=)
|
rs1660135968
|
|
NM_000350.3(ABCA4):c.452T>C (p.Ile151Thr)
|
rs1012017728
|
|
NM_000350.3(ABCA4):c.4531C>A (p.Pro1511Thr)
|
|
|
NM_000350.3(ABCA4):c.4531C>T (p.Pro1511Ser)
|
|
|
NM_000350.3(ABCA4):c.4532C>G (p.Pro1511Arg)
|
rs886046564
|
|
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu)
|
rs886046564
|
|
NM_000350.3(ABCA4):c.4533C>T (p.Pro1511=)
|
|
|
NM_000350.3(ABCA4):c.4535C>A (p.Pro1512His)
|
rs61750150
|
|
NM_000350.3(ABCA4):c.4535C>G (p.Pro1512Arg)
|
rs61750150
|
|
NM_000350.3(ABCA4):c.4535C>T (p.Pro1512Leu)
|
rs61750150
|
|
NM_000350.3(ABCA4):c.4536C>A (p.Pro1512=)
|
rs764982444
|
|
NM_000350.3(ABCA4):c.4536C>G (p.Pro1512=)
|
rs764982444
|
|
NM_000350.3(ABCA4):c.4537C>A (p.Gln1513Lys)
|
rs759373898
|
|
NM_000350.3(ABCA4):c.4537del (p.Gln1513fs)
|
rs281865377
|
|
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)
|
rs281865377
|
|
NM_000350.3(ABCA4):c.4539+1100A>G
|
|
|
NM_000350.3(ABCA4):c.4539+1106C>T
|
|
|
NM_000350.3(ABCA4):c.4539+1729G>T
|
rs1660080565
|
|
NM_000350.3(ABCA4):c.4539+19A>G
|
|
|
NM_000350.3(ABCA4):c.4539+1G>T
|
rs61751388
|
|
NM_000350.3(ABCA4):c.4539+2001G>T
|
|
|
NM_000350.3(ABCA4):c.4539+2064C>T
|
rs1553189179
|
|
NM_000350.3(ABCA4):c.4539+2065C>G
|
|
|
NM_000350.3(ABCA4):c.4539+20C>T
|
|
|
NM_000350.3(ABCA4):c.4539+20del
|
|
|
NM_000350.3(ABCA4):c.4539+24del
|
rs61754052
|
|
NM_000350.3(ABCA4):c.4539+35G>C
|
rs61754049
|
|
NM_000350.3(ABCA4):c.4539+3A>G
|
rs61754051
|
|
NM_000350.3(ABCA4):c.4539G>C (p.Gln1513His)
|
|
|
NM_000350.3(ABCA4):c.4540-10A>G
|
|
|
NM_000350.3(ABCA4):c.4540-13C>T
|
|
|
NM_000350.3(ABCA4):c.4540-17G>T
|
|
|
NM_000350.3(ABCA4):c.4540-19G>A
|
|
|
NM_000350.3(ABCA4):c.4540-2026CT[4]
|
rs151095233
|
|
NM_000350.3(ABCA4):c.4540-2A>C
|
|
|
NM_000350.3(ABCA4):c.4540-2A>G
|
rs61752435
|
|
NM_000350.3(ABCA4):c.4540-5C>G
|
rs1476415689
|
|
NM_000350.3(ABCA4):c.4540-65_4561delinsCGCTGTGTTCTCTGAGGCAATGAGACACCCACGTTAATTACCTTGGAACTTGAGGACTTATAAGTAGT
|
rs2101027768
|
|
NM_000350.3(ABCA4):c.4540-8T>A
|
rs752607057
|
|
NM_000350.3(ABCA4):c.4540-8T>C
|
|
|
NM_000350.3(ABCA4):c.4544C>G (p.Thr1515Arg)
|
|
|
NM_000350.3(ABCA4):c.4546C>A (p.Gln1516Lys)
|
|
|
NM_000350.3(ABCA4):c.4546C>T (p.Gln1516Ter)
|
|
|
NM_000350.3(ABCA4):c.4549C>A (p.Arg1517Ser)
|
rs1800550
|
|
NM_000350.3(ABCA4):c.4552A>C (p.Ser1518Arg)
|
|
|
NM_000350.3(ABCA4):c.4552A>G (p.Ser1518Gly)
|
|
|
NM_000350.3(ABCA4):c.4554C>T (p.Ser1518=)
|
|
|
NM_000350.3(ABCA4):c.4555del (p.Thr1519fs)
|
|
|
NM_000350.3(ABCA4):c.4557G>A (p.Thr1519=)
|
|
|
NM_000350.3(ABCA4):c.4558G>C (p.Glu1520Gln)
|
|
|
NM_000350.3(ABCA4):c.4560A>G (p.Glu1520=)
|
|
|
NM_000350.3(ABCA4):c.4561dup (p.Ile1521fs)
|
|
|
NM_000350.3(ABCA4):c.4563T>A (p.Ile1521=)
|
|
|
NM_000350.3(ABCA4):c.4566A>G (p.Leu1522=)
|
|
|
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter)
|
rs1553188916
|
|
NM_000350.3(ABCA4):c.4568A>G (p.Gln1523Arg)
|
rs2101027761
|
|
NM_000350.3(ABCA4):c.4569A>G (p.Gln1523=)
|
|
|
NM_000350.3(ABCA4):c.456A>T (p.Arg152=)
|
|
|
NM_000350.3(ABCA4):c.4574T>C (p.Leu1525Pro)
|
rs61750151
|
|
NM_000350.3(ABCA4):c.4575G>A (p.Leu1525=)
|
|
|
NM_000350.3(ABCA4):c.457A>G (p.Ile153Val)
|
rs1662330621
|
|
NM_000350.3(ABCA4):c.4581C>G (p.Asp1527Glu)
|
|
|
NM_000350.3(ABCA4):c.4587C>T (p.Asn1529=)
|
|
|
NM_000350.3(ABCA4):c.458T>C (p.Ile153Thr)
|
|
|
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser)
|
rs1557770154
|
|
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter)
|
rs62645957
|
|
NM_000350.3(ABCA4):c.4601T>G (p.Leu1534Trp)
|
rs1659998732
|
|
NM_000350.3(ABCA4):c.4601del (p.Leu1534fs)
|
|
|
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)
|
rs138475920
|
|
NM_000350.3(ABCA4):c.4611G>C (p.Thr1537=)
|
rs138475920
|
|
NM_000350.3(ABCA4):c.4612_4625del (p.Tyr1538fs)
|
rs1659997368
|
|
NM_000350.3(ABCA4):c.4615C>A (p.Pro1539Thr)
|
|
|
NM_000350.3(ABCA4):c.4621del (p.Leu1541_Ile1542insTer)
|
rs1557770132
|
|
NM_000350.3(ABCA4):c.462G>A (p.Arg154=)
|
rs1253706083
|
|
NM_000350.3(ABCA4):c.4632C>G (p.Ser1544Arg)
|
rs750046422
|
|
NM_000350.3(ABCA4):c.4634+15T>G
|
|
|
NM_000350.3(ABCA4):c.4634+1G>C
|
rs767312869
|
|
NM_000350.3(ABCA4):c.4634+1del
|
rs1659997092
|
|
NM_000350.3(ABCA4):c.4634+20T>A
|
|
|
NM_000350.3(ABCA4):c.4634+20T>C
|
|
|
NM_000350.3(ABCA4):c.4634+6A>G
|
rs1659996871
|
|
NM_000350.3(ABCA4):c.4635-18T>C
|
|
|
NM_000350.3(ABCA4):c.4635-19A>G
|
|
|
NM_000350.3(ABCA4):c.4635-22_4635-18dup
|
|
|
NM_000350.3(ABCA4):c.4637T>G (p.Leu1546Ter)
|
rs1131691612
|
|
NM_000350.3(ABCA4):c.4637del (p.Ser1545_Leu1546insTer)
|
|
|
NM_000350.3(ABCA4):c.4638A>C (p.Leu1546Phe)
|
|
|
NM_000350.3(ABCA4):c.4639A>T (p.Lys1547Ter)
|
|
|
NM_000350.3(ABCA4):c.464A>T (p.Asp155Val)
|
|
|
NM_000350.3(ABCA4):c.4653G>A (p.Trp1551Ter)
|
|
|
NM_000350.3(ABCA4):c.4659T>A (p.Asn1553Lys)
|
rs1354737408
|
|
NM_000350.3(ABCA4):c.4663_4664del (p.Gln1555fs)
|
|
|
NM_000350.3(ABCA4):c.4666del (p.Arg1556fs)
|
rs2101025946
|
|
NM_000350.3(ABCA4):c.4667+10T>C
|
|
|
NM_000350.3(ABCA4):c.4667+11A>G
|
|
|
NM_000350.3(ABCA4):c.4667+1G>A
|
rs751319688
|
|
NM_000350.3(ABCA4):c.4667+3A>G
|
rs1659953116
|
|
NM_000350.3(ABCA4):c.4667G>A (p.Arg1556Lys)
|
rs1385119665
|
|
NM_000350.3(ABCA4):c.4668-11_4668-4del
|
rs2101024257
|
|
NM_000350.3(ABCA4):c.4668-13G>C
|
|
|
NM_000350.3(ABCA4):c.4668-15C>A
|
|
|
NM_000350.3(ABCA4):c.4668-15C>T
|
rs61754054
|
|
NM_000350.3(ABCA4):c.4668-16C>G
|
|
|
NM_000350.3(ABCA4):c.4668-19T>G
|
|
|
NM_000350.3(ABCA4):c.4668-1G>A
|
rs1439783011
|
|
NM_000350.3(ABCA4):c.4668-1G>C
|
|
|
NM_000350.3(ABCA4):c.4668-5G>C
|
rs2101024259
|
|
NM_000350.3(ABCA4):c.4668-8C>T
|
|
|
NM_000350.3(ABCA4):c.4670A>G (p.Tyr1557Cys)
|
rs1401716074
|
|
NM_000350.3(ABCA4):c.4671T>A (p.Tyr1557Ter)
|
rs1659914762
|
|
NM_000350.3(ABCA4):c.468C>T (p.Ile156=)
|
rs148091207
|
|
NM_000350.3(ABCA4):c.469T>C (p.Leu157=)
|
rs2101143851
|
|
NM_000350.3(ABCA4):c.470T>A (p.Leu157Ter)
|
rs953605928
|
|
NM_000350.3(ABCA4):c.470T>G (p.Leu157Trp)
|
|
|
NM_000350.3(ABCA4):c.477T>G (p.Asp159Glu)
|
rs767738064
|
|
NM_000350.3(ABCA4):c.478G>T (p.Glu160Ter)
|
rs1064793005
|
|
NM_000350.3(ABCA4):c.481G>A (p.Glu161Lys)
|
rs62645943
|
|
NM_000350.3(ABCA4):c.488_491del (p.Leu163fs)
|
rs747950242
|
|
NM_000350.3(ABCA4):c.489_494del (p.162TL[1])
|
rs2101143761
|
|
NM_000350.3(ABCA4):c.48C>A (p.Thr16=)
|
|
|
NM_000350.3(ABCA4):c.48C>T (p.Thr16=)
|
|
|
NM_000350.3(ABCA4):c.492A>T (p.Thr164=)
|
|
|
NM_000350.3(ABCA4):c.495A>G (p.Leu165=)
|
|
|
NM_000350.3(ABCA4):c.5019-10C>A
|
|
|
NM_000350.3(ABCA4):c.5019-11C>T
|
|
|
NM_000350.3(ABCA4):c.5019-19G>A
|
|
|
NM_000350.3(ABCA4):c.5019-4G>A
|
|
|
NM_000350.3(ABCA4):c.5019-98C>T
|
rs116362338
|
|
NM_000350.3(ABCA4):c.5023A>C (p.Thr1675Pro)
|
rs2101020915
|
|
NM_000350.3(ABCA4):c.5024C>T (p.Thr1675Ile)
|
rs375156009
|
|
NM_000350.3(ABCA4):c.5032G>T (p.Val1678Leu)
|
rs1659845637
|
|
NM_000350.3(ABCA4):c.5034G>A (p.Val1678=)
|
|
|
NM_000350.3(ABCA4):c.5037T>C (p.Asp1679=)
|
|
|
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)
|
rs62646872
|
|
NM_000350.3(ABCA4):c.5049C>T (p.Ala1683=)
|
|
|
NM_000350.3(ABCA4):c.5055C>A (p.Cys1685Ter)
|
rs749943475
|
|
NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe)
|
rs201996979
|
|
NM_000350.3(ABCA4):c.5059del (p.Ile1687fs)
|
rs1571256775
|
|
NM_000350.3(ABCA4):c.505A>T (p.Lys169Ter)
|
|
|
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro)
|
rs61753020
|
|
NM_000350.3(ABCA4):c.5068A>G (p.Met1690Val)
|
|
|
NM_000350.3(ABCA4):c.5069T>G (p.Met1690Arg)
|
|
|
NM_000350.3(ABCA4):c.5076_5097del (p.Val1693fs)
|
rs2101020760
|
|
NM_000350.3(ABCA4):c.5081C>T (p.Pro1694Leu)
|
|
|
NM_000350.3(ABCA4):c.5084C>A (p.Ala1695Asp)
|
rs1659842921
|
|
NM_000350.3(ABCA4):c.5084C>T (p.Ala1695Val)
|
rs1659842921
|
|
NM_000350.3(ABCA4):c.5086A>G (p.Ser1696Gly)
|
|
|
NM_000350.3(ABCA4):c.5087G>C (p.Ser1696Thr)
|
|
|
NM_000350.3(ABCA4):c.5090T>G (p.Phe1697Cys)
|
|
|
NM_000350.3(ABCA4):c.50T>C (p.Leu17Pro)
|
rs1322362097
|
|
NM_000350.3(ABCA4):c.5107C>G (p.Gln1703Glu)
|
rs61750565
|
|
NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu)
|
rs61753021
|
|
NM_000350.3(ABCA4):c.5115G>A (p.Arg1705=)
|
|
|
NM_000350.3(ABCA4):c.5116G>A (p.Val1706Met)
|
|
|
NM_000350.3(ABCA4):c.5116G>T (p.Val1706Leu)
|
rs1044818989
|
|
NM_000350.3(ABCA4):c.511A>T (p.Ile171Phe)
|
rs765059735
|
|
NM_000350.3(ABCA4):c.5121C>A (p.Asn1707Lys)
|
rs886046562
|
|
NM_000350.3(ABCA4):c.5121C>T (p.Asn1707=)
|
|
|
NM_000350.3(ABCA4):c.5133C>T (p.His1711=)
|
|
|
NM_000350.3(ABCA4):c.5137_5138delinsAG (p.Gln1713Arg)
|
rs1659840790
|
|
NM_000350.3(ABCA4):c.5139G>A (p.Gln1713=)
|
|
|
NM_000350.3(ABCA4):c.513C>T (p.Ile171=)
|
|
|
NM_000350.3(ABCA4):c.514G>T (p.Gly172Cys)
|
|
|
NM_000350.3(ABCA4):c.5150G>A (p.Gly1717Glu)
|
rs1448246859
|
|
NM_000350.3(ABCA4):c.5154G>C (p.Val1718=)
|
|
|
NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs)
|
rs61750566
|
|
NM_000350.3(ABCA4):c.5169C>G (p.Tyr1723Ter)
|
rs1437993640
|
|
NM_000350.3(ABCA4):c.5169del (p.Trp1724fs)
|
|
|
NM_000350.3(ABCA4):c.516C>G (p.Gly172=)
|
|
|
NM_000350.3(ABCA4):c.516C>T (p.Gly172=)
|
|
|
NM_000350.3(ABCA4):c.5171G>C (p.Trp1724Ser)
|
rs1571256634
|
|
NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter)
|
rs1557767754
|
|
NM_000350.3(ABCA4):c.5172G>T (p.Trp1724Cys)
|
rs1557767754
|
|
NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs)
|
rs1057518955
|
|
NM_000350.3(ABCA4):c.5190G>A (p.Trp1730Ter)
|
rs2101020591
|
|
NM_000350.3(ABCA4):c.5192A>T (p.Asp1731Val)
|
rs2101020581
|
|
NM_000350.3(ABCA4):c.5194A>T (p.Ile1732Phe)
|
rs2101020577
|
|
NM_000350.3(ABCA4):c.5196+1056A>G
|
rs886044749
|
|
NM_000350.3(ABCA4):c.5196+1078del
|
rs3838275
|
|
NM_000350.3(ABCA4):c.5196+1137G>T
|
rs778234759
|
|
NM_000350.3(ABCA4):c.5196+1216C>A
|
rs1659795266
|
|
NM_000350.3(ABCA4):c.5196+12T>C
|
|
|
NM_000350.3(ABCA4):c.5196+1364GT[6]
|
rs3838274
|
|
NM_000350.3(ABCA4):c.5196+14del
|
|
|
NM_000350.3(ABCA4):c.5196+19C>A
|
|
|
NM_000350.3(ABCA4):c.5196+19C>T
|
rs138937487
|
|
NM_000350.3(ABCA4):c.5196+20G>T
|
|
|
NM_000350.3(ABCA4):c.5196+2T>C
|
rs61751405
|
|
NM_000350.3(ABCA4):c.5196+2T>G
|
rs61751405
|
|
NM_000350.3(ABCA4):c.5196+3_5196+6del
|
rs61753023
|
|
NM_000350.3(ABCA4):c.5196+3_5196+8del
|
rs61753024
|
|
NM_000350.3(ABCA4):c.5196+6T>C
|
rs1226023826
|
|
NM_000350.3(ABCA4):c.5197-15T>C
|
|
|
NM_000350.3(ABCA4):c.5197-9del
|
|
|
NM_000350.3(ABCA4):c.5199G>A (p.Met1733Ile)
|
|
|
NM_000350.3(ABCA4):c.5208C>T (p.Ser1736=)
|
|
|
NM_000350.3(ABCA4):c.5210del (p.Val1737fs)
|
rs2101015583
|
|
NM_000350.3(ABCA4):c.5211G>A (p.Val1737=)
|
|
|
NM_000350.3(ABCA4):c.5212_5222del (p.Ser1738fs)
|
rs281865403
|
|
NM_000350.3(ABCA4):c.5213G>A (p.Ser1738Asn)
|
rs2101015576
|
|
NM_000350.3(ABCA4):c.5219G>A (p.Gly1740Glu)
|
rs794727593
|
|
NM_000350.3(ABCA4):c.5222_5232del (p.Leu1741fs)
|
rs61750569
|
|
NM_000350.3(ABCA4):c.5223_5233del (p.Val1742fs)
|
rs61750570
|
|
NM_000350.3(ABCA4):c.5226G>T (p.Val1742=)
|
|
|
NM_000350.3(ABCA4):c.5231G>A (p.Gly1744Asp)
|
|
|
NM_000350.3(ABCA4):c.5232C>T (p.Gly1744=)
|
|
|
NM_000350.3(ABCA4):c.5234T>A (p.Ile1745Asn)
|
rs1232880489
|
|
NM_000350.3(ABCA4):c.5242G>T (p.Gly1748Trp)
|
|
|
NM_000350.3(ABCA4):c.5243G>A (p.Gly1748Glu)
|
rs1659719374
|
|
NM_000350.3(ABCA4):c.5244G>A (p.Gly1748=)
|
|
|
NM_000350.3(ABCA4):c.5248C>T (p.Gln1750Ter)
|
rs61753026
|
|
NM_000350.3(ABCA4):c.5258C>T (p.Ala1753Val)
|
rs1249295549
|
|
NM_000350.3(ABCA4):c.5260T>G (p.Tyr1754Asp)
|
|
|
NM_000350.3(ABCA4):c.5264C>T (p.Thr1755Ile)
|
|
|
NM_000350.3(ABCA4):c.5265T>A (p.Thr1755=)
|
|
|
NM_000350.3(ABCA4):c.5265T>G (p.Thr1755=)
|
|
|
NM_000350.3(ABCA4):c.5281_5289del (p.Pro1761_Leu1763del)
|
rs61753027
|
|
NM_000350.3(ABCA4):c.5282C>G (p.Pro1761Arg)
|
rs1057520212
|
|
NM_000350.3(ABCA4):c.5284del (p.Ala1762fs)
|
|
|
NM_000350.3(ABCA4):c.5288T>C (p.Leu1763Pro)
|
rs61753028
|
|
NM_000350.3(ABCA4):c.5289T>G (p.Leu1763=)
|
|
|
NM_000350.3(ABCA4):c.5289del (p.Val1764fs)
|
rs1553188071
|
|
NM_000350.3(ABCA4):c.5292G>T (p.Val1764=)
|
|
|
NM_000350.3(ABCA4):c.52C>A (p.Arg18=)
|
rs121909205
|
|
NM_000350.3(ABCA4):c.5305C>T (p.Leu1769=)
|
|
|
NM_000350.3(ABCA4):c.5308T>G (p.Tyr1770Asp)
|
rs1195430987
|
|
NM_000350.3(ABCA4):c.5309A>G (p.Tyr1770Cys)
|
rs760780770
|
|
NM_000350.3(ABCA4):c.5310T>C (p.Tyr1770=)
|
rs2101015376
|
|
NM_000350.3(ABCA4):c.5310T>G (p.Tyr1770Ter)
|
|
|
NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg)
|
rs374015407
|
|
NM_000350.3(ABCA4):c.5312+10T>G
|
|
|
NM_000350.3(ABCA4):c.5312+12G>C
|
|
|
NM_000350.3(ABCA4):c.5312+2T>C
|
|
|
NM_000350.3(ABCA4):c.5312+2T>G
|
rs1307108997
|
|
NM_000350.3(ABCA4):c.5312+3A>T
|
rs767451031
|
|
NM_000350.3(ABCA4):c.5312+5_5312+14del
|
rs2101015335
|
|
NM_000350.3(ABCA4):c.5312+7C>T
|
rs761988699
|
|
NM_000350.3(ABCA4):c.5313-12C>T
|
|
|
NM_000350.3(ABCA4):c.5313-4A>G
|
|
|
NM_000350.3(ABCA4):c.5313-5C>A
|
|
|
NM_000350.3(ABCA4):c.5313-5C>G
|
rs1659674840
|
|
NM_000350.3(ABCA4):c.5313-6A>G
|
|
|
NM_000350.3(ABCA4):c.5317_5318insA (p.Ala1773fs)
|
rs1659674437
|
|
NM_000350.3(ABCA4):c.5318C>A (p.Ala1773Glu)
|
rs760549861
|
|
NM_000350.3(ABCA4):c.531G>A (p.Val177=)
|
|
|
NM_000350.3(ABCA4):c.5327_5328delinsTG (p.Pro1776Leu)
|
rs281865404
|
|
NM_000350.3(ABCA4):c.5328C>T (p.Pro1776=)
|
|
|
NM_000350.3(ABCA4):c.5330T>G (p.Met1777Arg)
|
rs2101013876
|
|
NM_000350.3(ABCA4):c.5332A>G (p.Met1778Val)
|
|
|
NM_000350.3(ABCA4):c.5332A>T (p.Met1778Leu)
|
|
|
NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys)
|
rs748706582
|
|
NM_000350.3(ABCA4):c.5333T>G (p.Met1778Arg)
|
rs748706582
|
|
NM_000350.3(ABCA4):c.5337C>A (p.Tyr1779Ter)
|
rs61750573
|
|
NM_000350.3(ABCA4):c.5351T>G (p.Leu1784Arg)
|
rs746252741
|
|
NM_000350.3(ABCA4):c.535T>C (p.Tyr179His)
|
rs1662327014
|
|
NM_000350.3(ABCA4):c.5364del (p.Ser1789fs)
|
rs2101013784
|
|
NM_000350.3(ABCA4):c.5365A>G (p.Ser1789Gly)
|
|
|
NM_000350.3(ABCA4):c.5366G>A (p.Ser1789Asn)
|
|
|
NM_000350.3(ABCA4):c.5367C>G (p.Ser1789Arg)
|
|
|
NM_000350.3(ABCA4):c.5371dup (p.Ala1791fs)
|
|
|
NM_000350.3(ABCA4):c.5373C>T (p.Ala1791=)
|
|
|
NM_000350.3(ABCA4):c.5379G>A (p.Val1793=)
|
|
|
NM_000350.3(ABCA4):c.5380G>C (p.Ala1794Pro)
|
rs1571252997
|
|
NM_000350.3(ABCA4):c.5389T>C (p.Cys1797Arg)
|
|
|
NM_000350.3(ABCA4):c.5391_5392del (p.Cys1797_Ala1798insTer)
|
rs786205445
|
|
NM_000350.3(ABCA4):c.5395A>G (p.Asn1799Asp)
|
rs61750574
|
|
NM_000350.3(ABCA4):c.5398C>T (p.Leu1800=)
|
|
|
NM_000350.3(ABCA4):c.53G>A (p.Arg18Gln)
|
rs868543294
|
|
NM_000350.3(ABCA4):c.53G>C (p.Arg18Pro)
|
rs868543294
|
|
NM_000350.3(ABCA4):c.5414A>G (p.Asn1805Ser)
|
|
|
NM_000350.3(ABCA4):c.5415C>T (p.Asn1805=)
|
|
|
NM_000350.3(ABCA4):c.5417G>A (p.Ser1806Asn)
|
rs1659671020
|
|
NM_000350.3(ABCA4):c.5420G>C (p.Ser1807Thr)
|
rs761435921
|
|
NM_000350.3(ABCA4):c.5421T>C (p.Ser1807=)
|
rs1273776607
|
|
NM_000350.3(ABCA4):c.5425_5426del (p.Ile1809fs)
|
|
|
NM_000350.3(ABCA4):c.5436C>A (p.Ile1812=)
|
rs2101013654
|
|
NM_000350.3(ABCA4):c.5453del (p.Asn1818fs)
|
rs2101013633
|
|
NM_000350.3(ABCA4):c.5454T>C (p.Asn1818=)
|
|
|
NM_000350.3(ABCA4):c.5457C>G (p.Asn1819Lys)
|
rs1181315221
|
|
NM_000350.3(ABCA4):c.5458C>T (p.Arg1820Trp)
|
|
|
NM_000350.3(ABCA4):c.5459G>C (p.Arg1820Pro)
|
rs62646875
|
|
NM_000350.3(ABCA4):c.5460+168_5460+179del
|
rs143222183
|
|
NM_000350.3(ABCA4):c.5460+169_5460+184del
|
rs375415519
|
|
NM_000350.3(ABCA4):c.5460+1G>A
|
rs61753030
|
|
NM_000350.3(ABCA4):c.5460+6C>T
|
rs886046561
|
|
NM_000350.3(ABCA4):c.5460+7A>G
|
|
|
NM_000350.3(ABCA4):c.5460+8T>C
|
|
|
NM_000350.3(ABCA4):c.5461-11_5461-5dup
|
|
|
NM_000350.3(ABCA4):c.5461-13T>C
|
|
|
NM_000350.3(ABCA4):c.5461-13T>G
|
|
|
NM_000350.3(ABCA4):c.5461-14C>T
|
|
|
NM_000350.3(ABCA4):c.5461-19T>C
|
rs1238760895
|
|
NM_000350.3(ABCA4):c.5461-1G>T
|
rs2101008577
|
|
NM_000350.3(ABCA4):c.5461-291A>C
|
rs565155
|
|
NM_000350.3(ABCA4):c.5461-36del
|
rs61754661
|
|
NM_000350.3(ABCA4):c.5461-44dup
|
rs281865391
|
|
NM_000350.3(ABCA4):c.5461-50_5461-49insA
|
rs281865393
|
|
NM_000350.3(ABCA4):c.5461A>G (p.Thr1821Ala)
|
rs2101008570
|
|
NM_000350.3(ABCA4):c.5486T>C (p.Leu1829Pro)
|
|
|
NM_000350.3(ABCA4):c.5487G>A (p.Leu1829=)
|
|
|
NM_000350.3(ABCA4):c.5498T>G (p.Leu1833Arg)
|
|
|
NM_000350.3(ABCA4):c.5502T>C (p.Ile1834=)
|
rs1443219544
|
|
NM_000350.3(ABCA4):c.5506T>C (p.Phe1836Leu)
|
rs370698226
|
|
NM_000350.3(ABCA4):c.5509C>T (p.Pro1837Ser)
|
|
|
NM_000350.3(ABCA4):c.5510C>T (p.Pro1837Leu)
|
rs1571250077
|
|
NM_000350.3(ABCA4):c.5511C>T (p.Pro1837=)
|
|
|
NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.5512C>T (p.His1838Tyr)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg)
|
rs886044752
|
|
NM_000350.3(ABCA4):c.5519G>A (p.Cys1840Tyr)
|
rs946348819
|
|
NM_000350.3(ABCA4):c.5519G>C (p.Cys1840Ser)
|
rs946348819
|
|
NM_000350.3(ABCA4):c.5521_5522delinsTG (p.Leu1841Trp)
|
|
|
NM_000350.3(ABCA4):c.5522T>A (p.Leu1841Gln)
|
|
|
NM_000350.3(ABCA4):c.5523G>A (p.Leu1841=)
|
|
|
NM_000350.3(ABCA4):c.5525G>A (p.Gly1842Asp)
|
rs2101008402
|
|
NM_000350.3(ABCA4):c.5527C>G (p.Arg1843Gly)
|
|
|
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp)
|
rs62642576
|
|
NM_000350.3(ABCA4):c.5528G>A (p.Arg1843Gln)
|
|
|
NM_000350.3(ABCA4):c.5528_5533del (p.Arg1843_Gly1844del)
|
rs1571250020
|
|
NM_000350.3(ABCA4):c.5529G>A (p.Arg1843=)
|
|
|
NM_000350.3(ABCA4):c.5530G>T (p.Gly1844Cys)
|
rs2101008373
|
|
NM_000350.3(ABCA4):c.5531G>A (p.Gly1844Asp)
|
rs1659540498
|
|
NM_000350.3(ABCA4):c.5531_5557dup (p.Gln1852_Ala1853insGlyLeuIleAspLeuAlaLeuSerGln)
|
|
|
NM_000350.3(ABCA4):c.5533C>A (p.Leu1845Ile)
|
|
|
NM_000350.3(ABCA4):c.553C>G (p.Gln185Glu)
|
|
|
NM_000350.3(ABCA4):c.5542C>T (p.Leu1848Phe)
|
rs2101008340
|
|
NM_000350.3(ABCA4):c.5548C>T (p.Leu1850=)
|
|
|
NM_000350.3(ABCA4):c.5550G>A (p.Leu1850=)
|
|
|
NM_000350.3(ABCA4):c.5554C>T (p.Gln1852Ter)
|
rs531109296
|
|
NM_000350.3(ABCA4):c.5562G>C (p.Val1854=)
|
|
|
NM_000350.3(ABCA4):c.5564_5565del (p.Thr1855fs)
|
|
|
NM_000350.3(ABCA4):c.5571C>T (p.Val1857=)
|
rs2101008301
|
|
NM_000350.3(ABCA4):c.5572T>G (p.Tyr1858Asp)
|
|
|
NM_000350.3(ABCA4):c.5573A>G (p.Tyr1858Cys)
|
|
|
NM_000350.3(ABCA4):c.5577C>A (p.Ala1859=)
|
rs375790639
|
|
NM_000350.3(ABCA4):c.5577C>T (p.Ala1859=)
|
|
|
NM_000350.3(ABCA4):c.5584+14G>A
|
|
|
NM_000350.3(ABCA4):c.5584+15A>T
|
|
|
NM_000350.3(ABCA4):c.5584+17G>A
|
|
|
NM_000350.3(ABCA4):c.5584+17G>T
|
|
|
NM_000350.3(ABCA4):c.5584+2T>C
|
rs2101008251
|
|
NM_000350.3(ABCA4):c.5584+5G>A
|
rs61750576
|
|
NM_000350.3(ABCA4):c.5584+6T>C
|
rs61750633
|
|
NM_000350.3(ABCA4):c.5584G>A (p.Gly1862Ser)
|
rs1659538637
|
|
NM_000350.3(ABCA4):c.5584G>C (p.Gly1862Arg)
|
rs1659538637
|
|
NM_000350.3(ABCA4):c.5585-10T>C
|
rs61753031
|
|
NM_000350.3(ABCA4):c.5585-16T>G
|
|
|
NM_000350.3(ABCA4):c.5585-17T>A
|
rs61754664
|
|
NM_000350.3(ABCA4):c.5585-19A>T
|
|
|
NM_000350.3(ABCA4):c.5585-1G>A
|
rs61750634
|
|
NM_000350.3(ABCA4):c.5585-3del
|
|
|
NM_000350.3(ABCA4):c.5585-4C>G
|
rs2101007726
|
|
NM_000350.3(ABCA4):c.5587G>A (p.Glu1863Lys)
|
rs774570747
|
|
NM_000350.3(ABCA4):c.5592G>A (p.Glu1864=)
|
|
|
NM_000350.3(ABCA4):c.5598T>G (p.Ser1866=)
|
rs1439924722
|
|
NM_000350.3(ABCA4):c.559C>T (p.Arg187Cys)
|
|
|
NM_000350.3(ABCA4):c.5607G>A (p.Pro1869=)
|
|
|
NM_000350.3(ABCA4):c.5610C>T (p.Phe1870=)
|
|
|
NM_000350.3(ABCA4):c.5613C>T (p.His1871=)
|
|
|
NM_000350.3(ABCA4):c.5615G>A (p.Trp1872Ter)
|
rs2101007643
|
|
NM_000350.3(ABCA4):c.5616G>A (p.Trp1872Ter)
|
|
|
NM_000350.3(ABCA4):c.5621T>C (p.Leu1874Pro)
|
|
|
NM_000350.3(ABCA4):c.5622G>C (p.Leu1874=)
|
|
|
NM_000350.3(ABCA4):c.5630_5644dup (p.Ala1881_Met1882insLysAsnLeuPheAla)
|
|
|
NM_000350.3(ABCA4):c.5634C>T (p.Asn1878=)
|
|
|
NM_000350.3(ABCA4):c.5640T>A (p.Phe1880Leu)
|
rs374811709
|
|
NM_000350.3(ABCA4):c.5642C>A (p.Ala1881Asp)
|
rs369973540
|
|
NM_000350.3(ABCA4):c.5643C>T (p.Ala1881=)
|
|
|
NM_000350.3(ABCA4):c.5644A>G (p.Met1882Val)
|
rs62642577
|
|
NM_000350.3(ABCA4):c.5646G>A (p.Met1882Ile)
|
rs752160946
|
|
NM_000350.3(ABCA4):c.5646G>C (p.Met1882Ile)
|
|
|
NM_000350.3(ABCA4):c.5646G>T (p.Met1882Ile)
|
rs752160946
|
|
NM_000350.3(ABCA4):c.5648T>G (p.Val1883Gly)
|
|
|
NM_000350.3(ABCA4):c.5651T>A (p.Val1884Glu)
|
rs62642578
|
|
NM_000350.3(ABCA4):c.5652G>A (p.Val1884=)
|
rs1434831679
|
|
NM_000350.3(ABCA4):c.5653G>A (p.Glu1885Lys)
|
rs62642563
|
|
NM_000350.3(ABCA4):c.5655del (p.Val1887fs)
|
rs1659524475
|
|
NM_000350.3(ABCA4):c.5665T>A (p.Tyr1889Asn)
|
rs1659523810
|
|
NM_000350.3(ABCA4):c.5668_5670del (p.Phe1890del)
|
rs61750635
|
|
NM_000350.3(ABCA4):c.5670C>T (p.Phe1890=)
|
|
|
NM_000350.3(ABCA4):c.5672_5673delinsCT (p.Leu1891Pro)
|
rs2101007491
|
|
NM_000350.3(ABCA4):c.5673C>T (p.Leu1891=)
|
|
|
NM_000350.3(ABCA4):c.567G>A (p.Glu189=)
|
|
|
NM_000350.3(ABCA4):c.5680C>T (p.Leu1894=)
|
rs1357586196
|
|
NM_000350.3(ABCA4):c.5683C>T (p.Leu1895=)
|
|
|
NM_000350.3(ABCA4):c.5687T>A (p.Val1896Asp)
|
rs61750636
|
|
NM_000350.3(ABCA4):c.568C>T (p.Gln190Ter)
|
|
|
NM_000350.3(ABCA4):c.5691G>T (p.Gln1897His)
|
rs771092150
|
|
NM_000350.3(ABCA4):c.5695C>T (p.His1899Tyr)
|
|
|
NM_000350.3(ABCA4):c.570+11G>A
|
|
|
NM_000350.3(ABCA4):c.570+16T>C
|
|
|
NM_000350.3(ABCA4):c.570+17G>T
|
|
|
NM_000350.3(ABCA4):c.570+18G>A
|
|
|
NM_000350.3(ABCA4):c.570+1_570+8del
|
|
|
NM_000350.3(ABCA4):c.570+2T>C
|
|
|
NM_000350.3(ABCA4):c.570+5G>T
|
rs1014460684
|
|
NM_000350.3(ABCA4):c.570+7G>T
|
rs367976871
|
|
NM_000350.3(ABCA4):c.5700C>T (p.Phe1900=)
|
rs2101007435
|
|
NM_000350.3(ABCA4):c.5706del (p.Ser1903fs)
|
rs2101007419
|
|
NM_000350.3(ABCA4):c.570G>C (p.Gln190His)
|
rs281865397
|
|
NM_000350.3(ABCA4):c.571-10C>A
|
rs1369046705
|
|
NM_000350.3(ABCA4):c.571-12T>G
|
rs1357187982
|
|
NM_000350.3(ABCA4):c.571-1G>A
|
rs61748533
|
|
NM_000350.3(ABCA4):c.571-1G>T
|
rs61748533
|
|
NM_000350.3(ABCA4):c.571-20G>A
|
|
|
NM_000350.3(ABCA4):c.571-29G>T
|
rs61753052
|
|
NM_000350.3(ABCA4):c.571-2A>G
|
rs61748534
|
|
NM_000350.3(ABCA4):c.571-7C>T
|
|
|
NM_000350.3(ABCA4):c.571-9T>G
|
|
|
NM_000350.3(ABCA4):c.5710C>T (p.Gln1904Ter)
|
rs2101007411
|
|
NM_000350.3(ABCA4):c.5714+10T>G
|
|
|
NM_000350.3(ABCA4):c.5714+13del
|
rs778975936
|
|
NM_000350.3(ABCA4):c.5714+15C>T
|
|
|
NM_000350.3(ABCA4):c.5714+18C>T
|
|
|
NM_000350.3(ABCA4):c.5714+1G>A
|
rs1232476760
|
|
NM_000350.3(ABCA4):c.5714+1G>T
|
rs1232476760
|
|
NM_000350.3(ABCA4):c.5714+5G>T
|
rs61751407
|
|
NM_000350.3(ABCA4):c.5715-107G>A
|
|
|
NM_000350.3(ABCA4):c.5715-13T>G
|
|
|
NM_000350.3(ABCA4):c.5715-14T>C
|
|
|
NM_000350.3(ABCA4):c.5715-17C>T
|
rs772678492
|
|
NM_000350.3(ABCA4):c.5715-5T>C
|
|
|
NM_000350.3(ABCA4):c.5715-5T>G
|
|
|
NM_000350.3(ABCA4):c.5753A>G (p.Asp1918Gly)
|
rs1659470705
|
|
NM_000350.3(ABCA4):c.5753A>T (p.Asp1918Val)
|
rs1659470705
|
|
NM_000350.3(ABCA4):c.5756A>T (p.Asp1919Val)
|
|
|
NM_000350.3(ABCA4):c.5756_5757insCC (p.Asp1920fs)
|
|
|
NM_000350.3(ABCA4):c.5758del (p.Asp1920fs)
|
|
|
NM_000350.3(ABCA4):c.5759A>T (p.Asp1920Val)
|
|
|
NM_000350.3(ABCA4):c.5762_5763dup (p.Ala1922fs)
|
|
|
NM_000350.3(ABCA4):c.5763G>A (p.Val1921=)
|
|
|
NM_000350.3(ABCA4):c.577C>T (p.His193Tyr)
|
|
|
NM_000350.3(ABCA4):c.578A>C (p.His193Pro)
|
|
|
NM_000350.3(ABCA4):c.578A>T (p.His193Leu)
|
rs146117175
|
|
NM_000350.3(ABCA4):c.5796A>G (p.Gly1932=)
|
|
|
NM_000350.3(ABCA4):c.57A>T (p.Lys19Asn)
|
rs1662934961
|
|
NM_000350.3(ABCA4):c.5810T>G (p.Ile1937Ser)
|
rs765282381
|
|
NM_000350.3(ABCA4):c.5818C>T (p.Leu1940=)
|
rs1659466058
|
|
NM_000350.3(ABCA4):c.5819T>A (p.Leu1940Gln)
|
|
|
NM_000350.3(ABCA4):c.5820A>G (p.Leu1940=)
|
|
|
NM_000350.3(ABCA4):c.5822A>C (p.His1941Pro)
|
rs1161119501
|
|
NM_000350.3(ABCA4):c.5822del (p.His1941fs)
|
rs1659465707
|
|
NM_000350.3(ABCA4):c.5824G>T (p.Glu1942Ter)
|
|
|
NM_000350.3(ABCA4):c.5828T>C (p.Leu1943Pro)
|
rs886044755
|
|
NM_000350.3(ABCA4):c.5828T>G (p.Leu1943Arg)
|
|
|
NM_000350.3(ABCA4):c.5830del (p.Thr1944fs)
|
|
|
NM_000350.3(ABCA4):c.5835+10T>C
|
rs1467436207
|
|
NM_000350.3(ABCA4):c.5835+16T>C
|
|
|
NM_000350.3(ABCA4):c.5835+18A>C
|
|
|
NM_000350.3(ABCA4):c.5835+19G>A
|
rs1015698417
|
|
NM_000350.3(ABCA4):c.5835+1G>T
|
|
|
NM_000350.3(ABCA4):c.5836-13T>C
|
|
|
NM_000350.3(ABCA4):c.5836-15C>T
|
|
|
NM_000350.3(ABCA4):c.5836-16dup
|
rs281865395
|
|
NM_000350.3(ABCA4):c.5836-20G>C
|
|
|
NM_000350.3(ABCA4):c.5836-2A>G
|
rs1659453002
|
|
NM_000350.3(ABCA4):c.5836-2del
|
rs61750637
|
|
NM_000350.3(ABCA4):c.5836-36TC[3]
|
rs281865396
|
|
NM_000350.3(ABCA4):c.5836-40C>A
|
rs281865394
|
|
NM_000350.3(ABCA4):c.5836-7C>T
|
rs886042784
|
|
NM_000350.3(ABCA4):c.5843_5844inv (p.Pro1948Leu)
|
|
|
NM_000350.3(ABCA4):c.585C>A (p.Val195=)
|
|
|
NM_000350.3(ABCA4):c.5863G>A (p.Val1955Met)
|
rs2101004195
|
|
NM_000350.3(ABCA4):c.5867_5870del (p.Asp1956fs)
|
rs1553187228
|
|
NM_000350.3(ABCA4):c.5872C>G (p.Leu1958Val)
|
|
|
NM_000350.3(ABCA4):c.5876G>A (p.Cys1959Tyr)
|
rs2101004162
|
|
NM_000350.3(ABCA4):c.587C>G (p.Pro196Arg)
|
|
|
NM_000350.3(ABCA4):c.5880C>T (p.Val1960=)
|
rs746250336
|
|
NM_000350.3(ABCA4):c.5886T>C (p.Val1962=)
|
rs62642568
|
|
NM_000350.3(ABCA4):c.5887C>T (p.Arg1963Cys)
|
|
|
NM_000350.3(ABCA4):c.5888G>T (p.Arg1963Leu)
|
rs758431657
|
|
NM_000350.3(ABCA4):c.5888del (p.Arg1963fs)
|
rs62642059
|
|
NM_000350.3(ABCA4):c.5898+10C>A
|
rs2101004067
|
|
NM_000350.3(ABCA4):c.5898+12G>A
|
|
|
NM_000350.3(ABCA4):c.5898+18C>T
|
|
|
NM_000350.3(ABCA4):c.5898+1G>A
|
rs61750638
|
|
NM_000350.3(ABCA4):c.5898+1G>T
|
rs61750638
|
|
NM_000350.3(ABCA4):c.5898+2T>C
|
rs2101004096
|
|
NM_000350.3(ABCA4):c.5898+5G>A
|
|
|
NM_000350.3(ABCA4):c.5898+5del
|
rs922818626
|
|
NM_000350.3(ABCA4):c.5898+9T>C
|
|
|
NM_000350.3(ABCA4):c.5899-12G>C
|
|
|
NM_000350.3(ABCA4):c.5899-16C>T
|
|
|
NM_000350.3(ABCA4):c.5899-18C>T
|
|
|
NM_000350.3(ABCA4):c.5899-19G>A
|
|
|
NM_000350.3(ABCA4):c.5899-1G>A
|
rs1553187160
|
|
NM_000350.3(ABCA4):c.5899-20A>G
|
|
|
NM_000350.3(ABCA4):c.5899-2del
|
rs1553187162
|
|
NM_000350.3(ABCA4):c.5899-4C>A
|
rs1659431693
|
|
NM_000350.3(ABCA4):c.5899-4C>T
|
|
|
NM_000350.3(ABCA4):c.589G>A (p.Asp197Asn)
|
|
|
NM_000350.3(ABCA4):c.58A>G (p.Arg20Gly)
|
rs1662934886
|
|
NM_000350.3(ABCA4):c.5900G>A (p.Cys1967Tyr)
|
rs2101003456
|
|
NM_000350.3(ABCA4):c.5907C>T (p.Gly1969=)
|
|
|
NM_000350.3(ABCA4):c.5908C>A (p.Leu1970Ile)
|
rs28938473
|
|
NM_000350.3(ABCA4):c.590A>C (p.Asp197Ala)
|
rs1662216089
|
|
NM_000350.3(ABCA4):c.5910C>T (p.Leu1970=)
|
rs1659430709
|
|
NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg)
|
rs61753034
|
|
NM_000350.3(ABCA4):c.5914G>A (p.Gly1972Arg)
|
rs61753035
|
|
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)
|
rs61751389
|
|
NM_000350.3(ABCA4):c.5921A>G (p.Asn1974Ser)
|
rs1659429852
|
|
NM_000350.3(ABCA4):c.5922T>A (p.Asn1974Lys)
|
|
|
NM_000350.3(ABCA4):c.5922T>C (p.Asn1974=)
|
rs202088666
|
|
NM_000350.3(ABCA4):c.5923G>C (p.Gly1975Arg)
|
rs61753036
|
|
NM_000350.3(ABCA4):c.5929G>T (p.Gly1977Cys)
|
rs61750639
|
|
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)
|
rs1064793014
|
|
NM_000350.3(ABCA4):c.5935A>G (p.Thr1979Ala)
|
rs1571247308
|
|
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile)
|
rs61753037
|
|
NM_000350.3(ABCA4):c.5937A>C (p.Thr1979=)
|
|
|
NM_000350.3(ABCA4):c.594G>A (p.Leu198=)
|
|
|
NM_000350.3(ABCA4):c.5950A>T (p.Met1984Leu)
|
rs2101003323
|
|
NM_000350.3(ABCA4):c.5951T>G (p.Met1984Arg)
|
rs1259778135
|
|
NM_000350.3(ABCA4):c.5951_5952inv (p.Met1984Thr)
|
|
|
NM_000350.3(ABCA4):c.5959G>A (p.Gly1987Arg)
|
rs777300047
|
|
NM_000350.3(ABCA4):c.5959_5964delinsTG (p.Thr1986_Gly1987insTer)
|
rs1659427600
|
|
NM_000350.3(ABCA4):c.595G>A (p.Ala199Thr)
|
rs746039623
|
|
NM_000350.3(ABCA4):c.5961G>A (p.Gly1987=)
|
|
|
NM_000350.3(ABCA4):c.5961_5964del (p.Asp1988fs)
|
rs61750640
|
|
NM_000350.3(ABCA4):c.5970A>G (p.Thr1990=)
|
rs2101003264
|
|
NM_000350.3(ABCA4):c.5970_5990del (p.Thr1992_Val1998del)
|
rs1659426203
|
|
NM_000350.3(ABCA4):c.5976C>G (p.Thr1992=)
|
rs1024175480
|
|
NM_000350.3(ABCA4):c.5976C>T (p.Thr1992=)
|
rs1024175480
|
|
NM_000350.3(ABCA4):c.5976del (p.Ser1993fs)
|
|
|
NM_000350.3(ABCA4):c.597G>A (p.Ala199=)
|
|
|
NM_000350.3(ABCA4):c.5981G>A (p.Gly1994Glu)
|
|
|
NM_000350.3(ABCA4):c.5986G>A (p.Ala1996Thr)
|
rs2101003223
|
|
NM_000350.3(ABCA4):c.6000C>T (p.Gly2000=)
|
|
|
NM_000350.3(ABCA4):c.6005+11T>C
|
|
|
NM_000350.3(ABCA4):c.6005+156_6005+160del
|
rs3831252
|
|
NM_000350.3(ABCA4):c.6005+15C>T
|
|
|
NM_000350.3(ABCA4):c.6005+17T>C
|
|
|
NM_000350.3(ABCA4):c.6005+1G>A
|
rs61748517
|
|
NM_000350.3(ABCA4):c.6005+1G>T
|
rs61748517
|
|
NM_000350.3(ABCA4):c.6005+2T>G
|
rs1453899480
|
|
NM_000350.3(ABCA4):c.6005+330del
|
rs3838272
|
|
NM_000350.3(ABCA4):c.6005+5G>A
|
rs1331785486
|
|
NM_000350.3(ABCA4):c.6005+7A>G
|
|
|
NM_000350.3(ABCA4):c.6006-13T>C
|
|
|
NM_000350.3(ABCA4):c.6006-15C>T
|
|
|
NM_000350.3(ABCA4):c.6006-16G>A
|
rs4147863
|
|
NM_000350.3(ABCA4):c.6006-16G>T
|
|
|
NM_000350.3(ABCA4):c.6006-16_6006-15delinsTT
|
rs2101000683
|
|
NM_000350.3(ABCA4):c.6006-18T>C
|
|
|
NM_000350.3(ABCA4):c.6006-19A>C
|
|
|
NM_000350.3(ABCA4):c.6006-2A>G
|
|
|
NM_000350.3(ABCA4):c.6006-3C>A
|
rs767972465
|
|
NM_000350.3(ABCA4):c.6006-4G>A
|
|
|
NM_000350.3(ABCA4):c.6006-698del
|
rs4147902
|
|
NM_000350.3(ABCA4):c.6006-8T>A
|
|
|
NM_000350.3(ABCA4):c.6006-8T>C
|
|
|
NM_000350.3(ABCA4):c.6006-8T>G
|
|
|
NM_000350.3(ABCA4):c.6006-8del
|
|
|
NM_000350.3(ABCA4):c.6017A>G (p.Asn2006Ser)
|
rs2101000596
|
|
NM_000350.3(ABCA4):c.6024T>C (p.Ser2008=)
|
|
|
NM_000350.3(ABCA4):c.6031C>T (p.His2011Tyr)
|
rs1057523778
|
|
NM_000350.3(ABCA4):c.6040A>G (p.Met2014Val)
|
rs201883531
|
|
NM_000350.3(ABCA4):c.6049T>C (p.Cys2017Arg)
|
rs2101000542
|
|
NM_000350.3(ABCA4):c.6054T>C (p.Pro2018=)
|
|
|
NM_000350.3(ABCA4):c.6076C>T (p.Leu2026=)
|
rs61748518
|
|
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)
|
rs886044758
|
|
NM_000350.3(ABCA4):c.6078G>A (p.Leu2026=)
|
|
|
NM_000350.3(ABCA4):c.6084A>G (p.Thr2028=)
|
rs2101000451
|
|
NM_000350.3(ABCA4):c.6086G>T (p.Gly2029Val)
|
|
|
NM_000350.3(ABCA4):c.6091G>A (p.Glu2031Lys)
|
rs1659353934
|
|
NM_000350.3(ABCA4):c.6094C>T (p.His2032Tyr)
|
rs183398940
|
|
NM_000350.3(ABCA4):c.6095A>G (p.His2032Arg)
|
rs1242866408
|
|
NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg)
|
rs1553186896
|
|
NM_000350.3(ABCA4):c.609C>T (p.Ile203=)
|
|
|
NM_000350.3(ABCA4):c.60G>A (p.Arg20=)
|
|
|
NM_000350.3(ABCA4):c.6102C>T (p.Tyr2034=)
|
|
|
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro)
|
rs61750642
|
|
NM_000350.3(ABCA4):c.6112C>A (p.Arg2038=)
|
|
|
NM_000350.3(ABCA4):c.6114G>A (p.Arg2038=)
|
|
|
NM_000350.3(ABCA4):c.6114G>C (p.Arg2038=)
|
|
|
NM_000350.3(ABCA4):c.6114del (p.Leu2039fs)
|
|
|
NM_000350.3(ABCA4):c.6119G>C (p.Arg2040Pro)
|
rs148460146
|
|
NM_000350.3(ABCA4):c.6121G>A (p.Gly2041Ser)
|
rs2101000357
|
|
NM_000350.3(ABCA4):c.6122del (p.Gly2041fs)
|
rs2101000353
|
|
NM_000350.3(ABCA4):c.6125_6126delinsGT (p.Val2042Gly)
|
rs2101000336
|
|
NM_000350.3(ABCA4):c.6127C>A (p.Pro2043Thr)
|
rs763230559
|
|
NM_000350.3(ABCA4):c.613T>C (p.Cys205Arg)
|
|
|
NM_000350.3(ABCA4):c.613T>G (p.Cys205Gly)
|
|
|
NM_000350.3(ABCA4):c.6141C>A (p.Ile2047=)
|
|
|
NM_000350.3(ABCA4):c.6142G>A (p.Glu2048Lys)
|
|
|
NM_000350.3(ABCA4):c.6146A>G (p.Lys2049Arg)
|
rs760481450
|
|
NM_000350.3(ABCA4):c.6146del (p.Lys2049fs)
|
rs1659351261
|
|
NM_000350.3(ABCA4):c.6147+13T>C
|
rs2101000275
|
|
NM_000350.3(ABCA4):c.6147+15G>C
|
|
|
NM_000350.3(ABCA4):c.6147+17_6147+19del
|
|
|
NM_000350.3(ABCA4):c.6147+18G>T
|
|
|
NM_000350.3(ABCA4):c.6147+2T>A
|
rs1659351072
|
|
NM_000350.3(ABCA4):c.6147+2T>C
|
rs1659351072
|
|
NM_000350.3(ABCA4):c.6147+8del
|
|
|
NM_000350.3(ABCA4):c.6147+9T>A
|
rs778917656
|
|
NM_000350.3(ABCA4):c.6147+9T>G
|
|
|
NM_000350.3(ABCA4):c.6148-10T>C
|
rs2100995743
|
|
NM_000350.3(ABCA4):c.6148-11C>A
|
|
|
NM_000350.3(ABCA4):c.6148-13T>C
|
|
|
NM_000350.3(ABCA4):c.6148-16T>C
|
|
|
NM_000350.3(ABCA4):c.6148-242C>G
|
rs11805625
|
|
NM_000350.3(ABCA4):c.6148-2A>G
|
|
|
NM_000350.3(ABCA4):c.614G>A (p.Cys205Tyr)
|
|
|
NM_000350.3(ABCA4):c.614G>T (p.Cys205Phe)
|
rs1662214905
|
|
NM_000350.3(ABCA4):c.6155del (p.Asn2052fs)
|
rs2100995699
|
|
NM_000350.3(ABCA4):c.6161G>T (p.Ser2054Ile)
|
|
|
NM_000350.3(ABCA4):c.6162T>C (p.Ser2054=)
|
rs1214772797
|
|
NM_000350.3(ABCA4):c.6165T>C (p.Ile2055=)
|
|
|
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter)
|
rs61750644
|
|
NM_000350.3(ABCA4):c.6167A>G (p.Lys2056Arg)
|
|
|
NM_000350.3(ABCA4):c.6168G>A (p.Lys2056=)
|
rs2100995671
|
|
NM_000350.3(ABCA4):c.6173T>A (p.Leu2058Gln)
|
|
|
NM_000350.3(ABCA4):c.6174G>A (p.Leu2058=)
|
|
|
NM_000350.3(ABCA4):c.6176G>A (p.Gly2059Asp)
|
|
|
NM_000350.3(ABCA4):c.6178C>G (p.Leu2060Val)
|
|
|
NM_000350.3(ABCA4):c.6179T>C (p.Leu2060Pro)
|
|
|
NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)
|
rs61753039
|
|
NM_000350.3(ABCA4):c.6181_6184del (p.Thr2061fs)
|
rs1659200106
|
|
NM_000350.3(ABCA4):c.6183T>C (p.Thr2061=)
|
|
|
NM_000350.3(ABCA4):c.6184G>C (p.Val2062Leu)
|
rs1322454000
|
|
NM_000350.3(ABCA4):c.6184_6187del (p.Val2062fs)
|
rs886042319
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
NM_000350.3(ABCA4):c.618C>T (p.Ser206=)
|
rs61748536
|
|
NM_000350.3(ABCA4):c.6190G>C (p.Ala2064Pro)
|
rs61753040
|
|
NM_000350.3(ABCA4):c.6191C>G (p.Ala2064Gly)
|
|
|
NM_000350.3(ABCA4):c.6191C>T (p.Ala2064Val)
|
rs1362964563
|
|
NM_000350.3(ABCA4):c.6192C>T (p.Ala2064=)
|
|
|
NM_000350.3(ABCA4):c.6193G>A (p.Asp2065Asn)
|
rs886043588
|
|
NM_000350.3(ABCA4):c.6193G>C (p.Asp2065His)
|
rs886043588
|
|
NM_000350.3(ABCA4):c.6198C>A (p.Cys2066Ter)
|
|
|
NM_000350.3(ABCA4):c.6199C>T (p.Leu2067=)
|
|
|
NM_000350.3(ABCA4):c.619G>A (p.Glu207Lys)
|
rs147807073
|
|
NM_000350.3(ABCA4):c.619G>C (p.Glu207Gln)
|
rs147807073
|
|
NM_000350.3(ABCA4):c.61C>T (p.Gln21Ter)
|
rs770272033
|
|
NM_000350.3(ABCA4):c.6206G>A (p.Gly2069Asp)
|
rs2100995579
|
|
NM_000350.3(ABCA4):c.6208_6209delinsCA (p.Thr2070Gln)
|
rs1659197672
|
|
NM_000350.3(ABCA4):c.6210G>A (p.Thr2070=)
|
rs1368610622
|
|
NM_000350.3(ABCA4):c.6210G>T (p.Thr2070=)
|
|
|
NM_000350.3(ABCA4):c.6211T>A (p.Tyr2071Asn)
|
rs1659197227
|
|
NM_000350.3(ABCA4):c.6211T>G (p.Tyr2071Asp)
|
rs1659197227
|
|
NM_000350.3(ABCA4):c.6213C>T (p.Tyr2071=)
|
rs62642580
|
|
NM_000350.3(ABCA4):c.6214A>G (p.Ser2072Gly)
|
|
|
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn)
|
rs1553186514
|
|
NM_000350.3(ABCA4):c.6216T>G (p.Ser2072Arg)
|
rs758795465
|
|
NM_000350.3(ABCA4):c.6220G>A (p.Gly2074Ser)
|
rs1659196542
|
|
NM_000350.3(ABCA4):c.6221G>A (p.Gly2074Asp)
|
rs367839100
|
|
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)
|
rs367839100
|
|
NM_000350.3(ABCA4):c.6229C>G (p.Arg2077Gly)
|
rs61750645
|
|
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)
|
rs61750645
|
|
NM_000350.3(ABCA4):c.6230G>T (p.Arg2077Leu)
|
|
|
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln)
|
rs951379922
|
|
NM_000350.3(ABCA4):c.6234A>C (p.Lys2078Asn)
|
rs1659195585
|
|
NM_000350.3(ABCA4):c.6236T>A (p.Leu2079His)
|
rs2100995477
|
|
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs)
|
rs281865382
|
|
NM_000350.3(ABCA4):c.6245C>T (p.Ala2082Val)
|
rs1659195030
|
|
NM_000350.3(ABCA4):c.6249C>A (p.Ile2083=)
|
|
|
NM_000350.3(ABCA4):c.6250G>C (p.Ala2084Pro)
|
|
|
NM_000350.3(ABCA4):c.6253C>T (p.Leu2085Phe)
|
|
|
NM_000350.3(ABCA4):c.6269C>A (p.Pro2090Gln)
|
|
|
NM_000350.3(ABCA4):c.6276G>A (p.Val2092=)
|
rs61753042
|
|
NM_000350.3(ABCA4):c.6282+10G>A
|
|
|
NM_000350.3(ABCA4):c.6282+11G>C
|
|
|
NM_000350.3(ABCA4):c.6282+193C>T
|
rs4147865
|
|
NM_000350.3(ABCA4):c.6282+19C>T
|
|
|
NM_000350.3(ABCA4):c.6282+20G>A
|
|
|
NM_000350.3(ABCA4):c.6282+20G>C
|
|
|
NM_000350.3(ABCA4):c.6282+2dup
|
rs2100995400
|
|
NM_000350.3(ABCA4):c.6282+8C>A
|
|
|
NM_000350.3(ABCA4):c.6282+8C>T
|
|
|
NM_000350.3(ABCA4):c.6283-13C>G
|
|
|
NM_000350.3(ABCA4):c.6283-1G>C
|
rs1410550128
|
|
NM_000350.3(ABCA4):c.6283-347G>A
|
rs12086793
|
|
NM_000350.3(ABCA4):c.6283-3C>A
|
|
|
NM_000350.3(ABCA4):c.6283-3C>T
|
|
|
NM_000350.3(ABCA4):c.6283-3del
|
|
|
NM_000350.3(ABCA4):c.6283-4C>A
|
|
|
NM_000350.3(ABCA4):c.6283-4C>G
|
rs374652451
|
|
NM_000350.3(ABCA4):c.6283-5C>A
|
|
|
NM_000350.3(ABCA4):c.6283-6C>T
|
|
|
NM_000350.3(ABCA4):c.6283-8C>A
|
|
|
NM_000350.3(ABCA4):c.6284A>T (p.Asp2095Val)
|
rs1064793015
|
|
NM_000350.3(ABCA4):c.6285_6286inv (p.Glu2096Lys)
|
|
|
NM_000350.3(ABCA4):c.6287A>G (p.Glu2096Gly)
|
|
|
NM_000350.3(ABCA4):c.6288G>C (p.Glu2096Asp)
|
rs2100994099
|
|
NM_000350.3(ABCA4):c.6289C>A (p.Pro2097Thr)
|
|
|
NM_000350.3(ABCA4):c.6289C>T (p.Pro2097Ser)
|
|
|
NM_000350.3(ABCA4):c.6290C>T (p.Pro2097Leu)
|
rs747046963
|
|
NM_000350.3(ABCA4):c.6292A>G (p.Thr2098Ala)
|
rs2100994088
|
|
NM_000350.3(ABCA4):c.6297A>C (p.Thr2099=)
|
|
|
NM_000350.3(ABCA4):c.6299G>A (p.Gly2100Glu)
|
rs2100994077
|
|
NM_000350.3(ABCA4):c.629T>A (p.Leu210Gln)
|
rs1246844424
|
|
NM_000350.3(ABCA4):c.629del (p.Leu210fs)
|
rs2101135952
|
|
NM_000350.3(ABCA4):c.6300del (p.Met2101fs)
|
rs61750647
|
|
NM_000350.3(ABCA4):c.6302T>G (p.Met2101Arg)
|
rs1659161479
|
|
NM_000350.3(ABCA4):c.6304_6317dup (p.Arg2107fs)
|
|
|
NM_000350.3(ABCA4):c.6306C>A (p.Asp2102Glu)
|
rs568627877
|
|
NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His)
|
rs2100994049
|
|
NM_000350.3(ABCA4):c.6310C>T (p.Gln2104Ter)
|
|
|
NM_000350.3(ABCA4):c.6310dup (p.Gln2104fs)
|
rs2100994047
|
|
NM_000350.3(ABCA4):c.6311A>G (p.Gln2104Arg)
|
rs1659161167
|
|
NM_000350.3(ABCA4):c.6317del (p.Arg2106fs)
|
rs1659160781
|
|
NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser)
|
rs2297669
|
|
NM_000350.3(ABCA4):c.6320G>C (p.Arg2107Pro)
|
rs62642564
|
|
NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro)
|
rs886044761
|
|
NM_000350.3(ABCA4):c.6328T>C (p.Trp2110Arg)
|
|
|
NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter)
|
rs62642565
|
|
NM_000350.3(ABCA4):c.6334G>A (p.Val2112Ile)
|
rs571031879
|
|
NM_000350.3(ABCA4):c.6334G>C (p.Val2112Leu)
|
rs571031879
|
|
NM_000350.3(ABCA4):c.6339C>G (p.Ile2113Met)
|
rs61750649
|
|
NM_000350.3(ABCA4):c.6352del (p.Arg2118fs)
|
rs61750650
|
|
NM_000350.3(ABCA4):c.6360G>A (p.Gly2120=)
|
|
|
NM_000350.3(ABCA4):c.6369G>A (p.Val2123=)
|
|
|
NM_000350.3(ABCA4):c.6377C>T (p.Thr2126Ile)
|
rs2100993899
|
|
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro)
|
rs2100993895
|
|
NM_000350.3(ABCA4):c.6380C>T (p.Ser2127Phe)
|
rs1303289867
|
|
NM_000350.3(ABCA4):c.6384C>T (p.His2128=)
|
rs2100993885
|
|
NM_000350.3(ABCA4):c.6386+10T>A
|
|
|
NM_000350.3(ABCA4):c.6386+11C>A
|
|
|
NM_000350.3(ABCA4):c.6386+1G>A
|
rs745654673
|
|
NM_000350.3(ABCA4):c.6386+20G>A
|
|
|
NM_000350.3(ABCA4):c.6386+27G>A
|
|
|
NM_000350.3(ABCA4):c.6386+3A>C
|
rs2100993868
|
|
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn)
|
rs1571242070
|
|
NM_000350.3(ABCA4):c.6387-18C>T
|
rs2100993786
|
|
NM_000350.3(ABCA4):c.6387-18_6387-16del
|
rs2100993780
|
|
NM_000350.3(ABCA4):c.6387-5C>A
|
|
|
NM_000350.3(ABCA4):c.6387-6C>T
|
|
|
NM_000350.3(ABCA4):c.6389T>A (p.Met2130Lys)
|
rs2100993760
|
|
NM_000350.3(ABCA4):c.6397T>C (p.Cys2133Arg)
|
|
|
NM_000350.3(ABCA4):c.6398G>C (p.Cys2133Ser)
|
|
|
NM_000350.3(ABCA4):c.6401A>G (p.Glu2134Gly)
|
rs2100993742
|
|
NM_000350.3(ABCA4):c.6402G>C (p.Glu2134Asp)
|
rs2100993738
|
|
NM_000350.3(ABCA4):c.6404C>T (p.Ala2135Val)
|
rs1659154841
|
|
NM_000350.3(ABCA4):c.6405_6406dup (p.Leu2136fs)
|
|
|
NM_000350.3(ABCA4):c.6406C>T (p.Leu2136=)
|
|
|
NM_000350.3(ABCA4):c.6407T>C (p.Leu2136Pro)
|
rs2100993718
|
|
NM_000350.3(ABCA4):c.6410G>A (p.Cys2137Tyr)
|
|
|
NM_000350.3(ABCA4):c.6411T>C (p.Cys2137=)
|
|
|
NM_000350.3(ABCA4):c.6414C>G (p.Thr2138=)
|
rs1392476534
|
|
NM_000350.3(ABCA4):c.6414C>T (p.Thr2138=)
|
|
|
NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp)
|
rs61750653
|
|
NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro)
|
rs761867791
|
|
NM_000350.3(ABCA4):c.6419T>G (p.Leu2140Arg)
|
rs774475956
|
|
NM_000350.3(ABCA4):c.641T>A (p.Ile214Asn)
|
rs1662213265
|
|
NM_000350.3(ABCA4):c.6420G>A (p.Leu2140=)
|
|
|
NM_000350.3(ABCA4):c.6422C>T (p.Ala2141Val)
|
|
|
NM_000350.3(ABCA4):c.6425T>A (p.Ile2142Asn)
|
|
|
NM_000350.3(ABCA4):c.6426C>G (p.Ile2142Met)
|
rs1184801813
|
|
NM_000350.3(ABCA4):c.6437G>A (p.Gly2146Asp)
|
rs61753044
|
|
NM_000350.3(ABCA4):c.6446G>C (p.Arg2149Pro)
|
rs61750655
|
|
NM_000350.3(ABCA4):c.6446G>T (p.Arg2149Leu)
|
rs61750655
|
|
NM_000350.3(ABCA4):c.6451A>T (p.Met2151Leu)
|
rs1345664981
|
|
NM_000350.3(ABCA4):c.6459C>A (p.Thr2153=)
|
|
|
NM_000350.3(ABCA4):c.6459C>G (p.Thr2153=)
|
|
|
NM_000350.3(ABCA4):c.6471del (p.Lys2158fs)
|
rs1373168392
|
|
NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu)
|
rs1571241930
|
|
NM_000350.3(ABCA4):c.6479+13T>A
|
|
|
NM_000350.3(ABCA4):c.6479+13T>C
|
|
|
NM_000350.3(ABCA4):c.6479+163C>G
|
|
|
NM_000350.3(ABCA4):c.6479+18C>T
|
|
|
NM_000350.3(ABCA4):c.6479+1G>A
|
|
|
NM_000350.3(ABCA4):c.6479+1G>C
|
|
|
NM_000350.3(ABCA4):c.6479+238A>G
|
rs4147866
|
|
NM_000350.3(ABCA4):c.6479+4A>G
|
rs2100993531
|
|
NM_000350.3(ABCA4):c.6479A>G (p.Lys2160Arg)
|
rs281865405
|
|
NM_000350.3(ABCA4):c.6480-11G>A
|
|
|
NM_000350.3(ABCA4):c.6480-129G>C
|
rs10874827
|
|
NM_000350.3(ABCA4):c.6480-1G>C
|
rs2100988422
|
|
NM_000350.3(ABCA4):c.6480-5C>T
|
|
|
NM_000350.3(ABCA4):c.6480-9A>C
|
rs2100988432
|
|
NM_000350.3(ABCA4):c.6490G>A (p.Gly2164Ser)
|
rs1395925042
|
|
NM_000350.3(ABCA4):c.6492C>T (p.Gly2164=)
|
|
|
NM_000350.3(ABCA4):c.6498C>G (p.Ile2166Met)
|
rs61751379
|
|
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=)
|
rs61751379
|
|
NM_000350.3(ABCA4):c.6501C>G (p.Val2167=)
|
|
|
NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg)
|
rs886044762
|
|
NM_000350.3(ABCA4):c.6519C>T (p.Ser2173=)
|
rs1557757728
|
|
NM_000350.3(ABCA4):c.6519_6529del (p.Lys2175fs)
|
rs63749079
|
|
NM_000350.3(ABCA4):c.6521C>T (p.Pro2174Leu)
|
rs756641536
|
|
NM_000350.3(ABCA4):c.6532C>T (p.Leu2178=)
|
|
|
NM_000350.3(ABCA4):c.6536T>C (p.Leu2179Pro)
|
rs2100988269
|
|
NM_000350.3(ABCA4):c.6537T>G (p.Leu2179=)
|
|
|
NM_000350.3(ABCA4):c.6545_6580del (p.Leu2182_Phe2193del)
|
rs63749058
|
|
NM_000350.3(ABCA4):c.655A>T (p.Arg219Ter)
|
rs757557272
|
|
NM_000350.3(ABCA4):c.6564C>T (p.Phe2188=)
|
|
|
NM_000350.3(ABCA4):c.6568C>T (p.Gln2190Ter)
|
rs2100988221
|
|
NM_000350.3(ABCA4):c.6568del (p.Gln2190fs)
|
rs61751381
|
|
NM_000350.3(ABCA4):c.6569A>G (p.Gln2190Arg)
|
|
|
NM_000350.3(ABCA4):c.6581del (p.Pro2194fs)
|
|
|
NM_000350.3(ABCA4):c.66+13G>C
|
|
|
NM_000350.3(ABCA4):c.66+17G>T
|
|
|
NM_000350.3(ABCA4):c.66+1G>C
|
|
|
NM_000350.3(ABCA4):c.66+1del
|
rs1662934446
|
|
NM_000350.3(ABCA4):c.66+2T>C
|
|
|
NM_000350.3(ABCA4):c.66+3A>C
|
rs781460114
|
|
NM_000350.3(ABCA4):c.66+7G>A
|
rs2101191191
|
|
NM_000350.3(ABCA4):c.6601_6602del (p.Arg2201fs)
|
rs61751409
|
|
NM_000350.3(ABCA4):c.6604C>G (p.His2202Asp)
|
|
|
NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter)
|
rs61753045
|
|
NM_000350.3(ABCA4):c.6616C>T (p.Leu2206Phe)
|
|
|
NM_000350.3(ABCA4):c.6618C>T (p.Leu2206=)
|
|
|
NM_000350.3(ABCA4):c.6620A>C (p.Gln2207Pro)
|
rs565752959
|
|
NM_000350.3(ABCA4):c.6639C>T (p.Ser2213=)
|
|
|
NM_000350.3(ABCA4):c.6647C>A (p.Ala2216Glu)
|
|
|
NM_000350.3(ABCA4):c.6647C>G (p.Ala2216Gly)
|
rs886044763
|
|
NM_000350.3(ABCA4):c.6648G>A (p.Ala2216=)
|
|
|
NM_000350.3(ABCA4):c.664del (p.Ala222fs)
|
rs61748539
|
|
NM_000350.3(ABCA4):c.6651del (p.Ile2218fs)
|
rs2100987980
|
|
NM_000350.3(ABCA4):c.6654C>A (p.Ile2218=)
|
|
|
NM_000350.3(ABCA4):c.6657C>T (p.Phe2219=)
|
|
|
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)
|
rs61753046
|
|
NM_000350.3(ABCA4):c.665C>T (p.Ala222Val)
|
rs2101135772
|
|
NM_000350.3(ABCA4):c.6669C>A (p.Leu2223=)
|
rs375495352
|
|
NM_000350.3(ABCA4):c.666_676del (p.Lys223fs)
|
rs63749056
|
|
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)
|
rs63749055
|
|
NM_000350.3(ABCA4):c.6670_6671del (p.Ser2224fs)
|
rs1571239957
|
|
NM_000350.3(ABCA4):c.6675C>T (p.His2225=)
|
|
|
NM_000350.3(ABCA4):c.667_678del (p.Lys223_Arg226del)
|
rs63749081
|
|
NM_000350.3(ABCA4):c.667_680del (p.Lys223fs)
|
rs63749082
|
|
NM_000350.3(ABCA4):c.6681C>T (p.Asp2227=)
|
|
|
NM_000350.3(ABCA4):c.6684_6699del (p.Leu2229fs)
|
|
|
NM_000350.3(ABCA4):c.6685C>T (p.Leu2229=)
|
|
|
NM_000350.3(ABCA4):c.6691A>G (p.Ile2231Val)
|
|
|
NM_000350.3(ABCA4):c.6693C>T (p.Ile2231=)
|
rs1801626
|
|
NM_000350.3(ABCA4):c.6694G>A (p.Glu2232Lys)
|
rs774350716
|
|
NM_000350.3(ABCA4):c.669G>A (p.Lys223=)
|
|
|
NM_000350.3(ABCA4):c.66G>T (p.Lys22Asn)
|
rs2101191227
|
|
NM_000350.3(ABCA4):c.67-11T>G
|
rs1662657188
|
|
NM_000350.3(ABCA4):c.67-1G>C
|
rs778908435
|
|
NM_000350.3(ABCA4):c.67-25CT[2]
|
rs1275820554
|
|
NM_000350.3(ABCA4):c.67-25CT[5]
|
|
|
NM_000350.3(ABCA4):c.67-2830C>T
|
|
|
NM_000350.3(ABCA4):c.67-2A>G
|
rs398123339
|
|
NM_000350.3(ABCA4):c.67-5T>C
|
|
|
NM_000350.3(ABCA4):c.67-5del
|
|
|
NM_000350.3(ABCA4):c.67-8T>C
|
|
|
NM_000350.3(ABCA4):c.6703T>C (p.Ser2235Pro)
|
|
|
NM_000350.3(ABCA4):c.6705dup (p.Val2236fs)
|
|
|
NM_000350.3(ABCA4):c.6707_6714del (p.Val2236fs)
|
rs62646877
|
|
NM_000350.3(ABCA4):c.6708_6709insG (p.Thr2237fs)
|
rs61751260
|
|
NM_000350.3(ABCA4):c.6709dup (p.Thr2237fs)
|
rs281865383
|
|
NM_000350.3(ABCA4):c.6714G>A (p.Gln2238=)
|
|
|
NM_000350.3(ABCA4):c.671del (p.Thr224fs)
|
rs61751417
|
|
NM_000350.3(ABCA4):c.6722T>C (p.Leu2241Pro)
|
rs1659051255
|
|
NM_000350.3(ABCA4):c.6729+1G>A
|
rs61751261
|
|
NM_000350.3(ABCA4):c.6729+5_6729+19del
|
rs749526785
|
|
NM_000350.3(ABCA4):c.6729+9G>A
|
|
|
NM_000350.3(ABCA4):c.6730-16C>T
|
|
|
NM_000350.3(ABCA4):c.6730-27C>G
|
rs61748522
|
|
NM_000350.3(ABCA4):c.6730-7C>T
|
rs1405122437
|
|
NM_000350.3(ABCA4):c.6730-9_6730-3del
|
|
|
NM_000350.3(ABCA4):c.6735T>C (p.Phe2245=)
|
|
|
NM_000350.3(ABCA4):c.6735del (p.Phe2245fs)
|
|
|
NM_000350.3(ABCA4):c.673_704delinsTCTATC (p.Val225fs)
|
|
|
NM_000350.3(ABCA4):c.6746C>A (p.Ala2249Asp)
|
|
|
NM_000350.3(ABCA4):c.6747T>C (p.Ala2249=)
|
|
|
NM_000350.3(ABCA4):c.6750del (p.Lys2250fs)
|
rs281865406
|
|
NM_000350.3(ABCA4):c.6759T>G (p.Thr2253=)
|
|
|
NM_000350.3(ABCA4):c.6766C>A (p.His2256Asn)
|
rs1658994254
|
|
NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser)
|
rs149780335
|
|
NM_000350.3(ABCA4):c.676C>T (p.Arg226Cys)
|
rs149780335
|
|
NM_000350.3(ABCA4):c.6772C>A (p.Leu2258Ile)
|
rs757212387
|
|
NM_000350.3(ABCA4):c.6775C>T (p.Pro2259Ser)
|
|
|
NM_000350.3(ABCA4):c.677G>A (p.Arg226His)
|
rs144310835
|
|
NM_000350.3(ABCA4):c.677G>T (p.Arg226Leu)
|
rs144310835
|
|
NM_000350.3(ABCA4):c.6780G>C (p.Leu2260=)
|
|
|
NM_000350.3(ABCA4):c.6785C>G (p.Pro2262Arg)
|
rs1283482726
|
|
NM_000350.3(ABCA4):c.6787C>G (p.Arg2263Gly)
|
|
|
NM_000350.3(ABCA4):c.6788G>A (p.Arg2263Gln)
|
rs281865407
|
|
NM_000350.3(ABCA4):c.6788G>T (p.Arg2263Leu)
|
rs281865407
|
|
NM_000350.3(ABCA4):c.6788_6791del (p.Arg2263fs)
|
|
|
NM_000350.3(ABCA4):c.6801C>G (p.Ala2267=)
|
|
|
NM_000350.3(ABCA4):c.6802A>C (p.Ser2268Arg)
|
rs1658992799
|
|
NM_000350.3(ABCA4):c.6813C>T (p.Ala2271=)
|
rs281865384
|
|
NM_000350.3(ABCA4):c.6815A>G (p.Gln2272Arg)
|
rs761134287
|
|
NM_000350.3(ABCA4):c.6816+11T>A
|
|
|
NM_000350.3(ABCA4):c.6816+1G>A
|
rs773599043
|
|
NM_000350.3(ABCA4):c.6816+1G>C
|
|
|
NM_000350.3(ABCA4):c.6816+2T>A
|
rs112005636
|
|
NM_000350.3(ABCA4):c.6816+9G>A
|
|
|
NM_000350.3(ABCA4):c.6817-18T>C
|
|
|
NM_000350.3(ABCA4):c.6817-19A>C
|
|
|
NM_000350.3(ABCA4):c.6817-2A>C
|
rs1658918693
|
|
NM_000350.3(ABCA4):c.6817-2A>G
|
rs1658918693
|
|
NM_000350.3(ABCA4):c.6817-9C>T
|
|
|
NM_000350.3(ABCA4):c.687G>A (p.Leu229=)
|
|
|
NM_000350.3(ABCA4):c.688T>A (p.Cys230Ser)
|
rs1057518767
|
|
NM_000350.3(ABCA4):c.689G>A (p.Cys230Tyr)
|
|
|
NM_000350.3(ABCA4):c.692C>T (p.Ser231Phe)
|
rs1425185788
|
|
NM_000350.3(ABCA4):c.696C>A (p.Leu232=)
|
|
|
NM_000350.3(ABCA4):c.696C>G (p.Leu232=)
|
|
|
NM_000350.3(ABCA4):c.699_768+341del
|
rs1662191792
|
|
NM_000350.3(ABCA4):c.705C>A (p.Gly235=)
|
|
|
NM_000350.3(ABCA4):c.708C>T (p.Thr236=)
|
|
|
NM_000350.3(ABCA4):c.70C>G (p.Arg24Gly)
|
rs62645942
|
|
NM_000350.3(ABCA4):c.712C>T (p.Gln238Ter)
|
rs1356104318
|
|
NM_000350.3(ABCA4):c.714G>A (p.Gln238=)
|
|
|
NM_000350.3(ABCA4):c.723A>T (p.Glu241Asp)
|
|
|
NM_000350.3(ABCA4):c.729T>C (p.Thr243=)
|
rs2101135548
|
|
NM_000350.3(ABCA4):c.730_731del (p.Leu244fs)
|
rs62645949
|
|
NM_000350.3(ABCA4):c.731T>C (p.Leu244Pro)
|
rs62646864
|
|
NM_000350.3(ABCA4):c.732G>A (p.Leu244=)
|
|
|
NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter)
|
rs1662208035
|
|
NM_000350.3(ABCA4):c.738C>T (p.Ala246=)
|
|
|
NM_000350.3(ABCA4):c.740A>T (p.Asn247Ile)
|
rs62645950
|
|
NM_000350.3(ABCA4):c.746A>G (p.Asp249Gly)
|
rs62646865
|
|
NM_000350.3(ABCA4):c.752del (p.Phe251fs)
|
rs2101135446
|
|
NM_000350.3(ABCA4):c.758T>C (p.Leu253Pro)
|
|
|
NM_000350.3(ABCA4):c.759C>G (p.Leu253=)
|
|
|
NM_000350.3(ABCA4):c.760T>C (p.Phe254Leu)
|
rs1662206970
|
|
NM_000350.3(ABCA4):c.763C>G (p.Arg255Gly)
|
rs62645952
|
|
NM_000350.3(ABCA4):c.768+12dup
|
|
|
NM_000350.3(ABCA4):c.768+17G>A
|
|
|
NM_000350.3(ABCA4):c.768+17G>C
|
|
|
NM_000350.3(ABCA4):c.768+20G>T
|
rs545743681
|
|
NM_000350.3(ABCA4):c.768+3A>T
|
rs2101135379
|
|
NM_000350.3(ABCA4):c.769-19G>A
|
|
|
NM_000350.3(ABCA4):c.769-19G>C
|
|
|
NM_000350.3(ABCA4):c.769-1G>A
|
|
|
NM_000350.3(ABCA4):c.769-1G>T
|
rs61748542
|
|
NM_000350.3(ABCA4):c.769-4A>G
|
|
|
NM_000350.3(ABCA4):c.769-5431G>A
|
|
|
NM_000350.3(ABCA4):c.769-5T>G
|
rs61750201
|
|
NM_000350.3(ABCA4):c.769-784C>T
|
|
|
NM_000350.3(ABCA4):c.769-7A>G
|
rs1661754905
|
|
NM_000350.3(ABCA4):c.780C>T (p.Leu260=)
|
|
|
NM_000350.3(ABCA4):c.786C>T (p.Asp262=)
|
rs1280742023
|
|
NM_000350.3(ABCA4):c.789C>T (p.Ser263=)
|
|
|
NM_000350.3(ABCA4):c.78G>A (p.Val26=)
|
|
|
NM_000350.3(ABCA4):c.791G>A (p.Arg264His)
|
rs567985213
|
|
NM_000350.3(ABCA4):c.796C>T (p.Gln266Ter)
|
rs764368214
|
|
NM_000350.3(ABCA4):c.799G>T (p.Gly267Cys)
|
|
|
NM_000350.3(ABCA4):c.806A>G (p.Asn269Ser)
|
rs1338260475
|
|
NM_000350.3(ABCA4):c.813A>G (p.Arg271=)
|
|
|
NM_000350.3(ABCA4):c.814T>A (p.Ser272Thr)
|
|
|
NM_000350.3(ABCA4):c.818G>A (p.Trp273Ter)
|
|
|
NM_000350.3(ABCA4):c.818G>T (p.Trp273Leu)
|
rs1388510409
|
|
NM_000350.3(ABCA4):c.81G>A (p.Val27=)
|
rs148357131
|
|
NM_000350.3(ABCA4):c.82del (p.Glu28fs)
|
rs2101167069
|
|
NM_000350.3(ABCA4):c.832del (p.Ser278fs)
|
rs61748543
|
|
NM_000350.3(ABCA4):c.834del (p.Asp279fs)
|
rs779743222
|
|
NM_000350.3(ABCA4):c.835G>A (p.Asp279Asn)
|
|
|
NM_000350.3(ABCA4):c.850_857del (p.Ile284fs)
|
rs886042320
|
|
NM_000350.3(ABCA4):c.853C>T (p.Gln285Ter)
|
rs886041951
|
|
NM_000350.3(ABCA4):c.858+10C>T
|
|
|
NM_000350.3(ABCA4):c.858+12G>C
|
rs2101111376
|
|
NM_000350.3(ABCA4):c.858+13A>G
|
|
|
NM_000350.3(ABCA4):c.858+14T>C
|
|
|
NM_000350.3(ABCA4):c.858+2T>A
|
|
|
NM_000350.3(ABCA4):c.858+4dup
|
rs1661749792
|
|
NM_000350.3(ABCA4):c.858+8G>A
|
|
|
NM_000350.3(ABCA4):c.859-10C>T
|
rs2101107156
|
|
NM_000350.3(ABCA4):c.859-11C>T
|
rs61753053
|
|
NM_000350.3(ABCA4):c.859-12G>A
|
|
|
NM_000350.3(ABCA4):c.859-14_859-13del
|
rs1661673887
|
|
NM_000350.3(ABCA4):c.859-16C>T
|
|
|
NM_000350.3(ABCA4):c.859-19A>G
|
|
|
NM_000350.3(ABCA4):c.859-1G>C
|
rs2101107143
|
|
NM_000350.3(ABCA4):c.859-241A>C
|
|
|
NM_000350.3(ABCA4):c.859-244A>G
|
|
|
NM_000350.3(ABCA4):c.859-506G>C
|
rs1661692833
|
|
NM_000350.3(ABCA4):c.859-6C>A
|
rs1661673501
|
|
NM_000350.3(ABCA4):c.859-9T>C
|
rs529598960
|
|
NM_000350.3(ABCA4):c.870G>A (p.Arg290=)
|
rs794727902
|
|
NM_000350.3(ABCA4):c.873G>T (p.Pro291=)
|
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NM_000350.3(ABCA4):c.878T>G (p.Met293Arg)
|
rs2101107081
|
|
NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter)
|
rs794727903
|
|
NM_000350.3(ABCA4):c.883G>A (p.Asp295Asn)
|
rs2101107071
|
|
NM_000350.3(ABCA4):c.885C>G (p.Asp295Glu)
|
rs1553194068
|
|
NM_000350.3(ABCA4):c.886T>C (p.Leu296=)
|
|
|
NM_000350.3(ABCA4):c.891G>C (p.Leu297=)
|
|
|
NM_000350.3(ABCA4):c.899C>A (p.Thr300Asn)
|
rs61748544
|
|
NM_000350.3(ABCA4):c.900C>A (p.Thr300=)
|
|
|
NM_000350.3(ABCA4):c.906C>T (p.Pro302=)
|
|
|
NM_000350.3(ABCA4):c.909C>T (p.Leu303=)
|
|
|
NM_000350.3(ABCA4):c.910A>T (p.Met304Leu)
|
rs755078118
|
|
NM_000350.3(ABCA4):c.913C>T (p.Gln305Ter)
|
rs1661669685
|
|
NM_000350.3(ABCA4):c.91T>C (p.Trp31Arg)
|
|
|
NM_000350.3(ABCA4):c.926C>A (p.Pro309Gln)
|
|
|
NM_000350.3(ABCA4):c.936T>C (p.Phe312=)
|
|
|
NM_000350.3(ABCA4):c.93G>A (p.Trp31Ter)
|
rs1191816747
|
|
NM_000350.3(ABCA4):c.943C>T (p.Leu315=)
|
|
|
NM_000350.3(ABCA4):c.948G>A (p.Met316Ile)
|
|
|
NM_000350.3(ABCA4):c.956T>G (p.Leu319Arg)
|
rs886044723
|
|
NM_000350.3(ABCA4):c.957G>C (p.Leu319=)
|
|
|
NM_000350.3(ABCA4):c.95CTTTAT[1] (p.Ser34_Leu35del)
|
rs745925619
|
|
NM_000350.3(ABCA4):c.962A>G (p.Asp321Gly)
|
|
|
NM_000350.3(ABCA4):c.964C>A (p.Leu322Ile)
|
rs1409497477
|
|
NM_000350.3(ABCA4):c.967del (p.Leu323fs)
|
rs1661666701
|
|
NM_000350.3(ABCA4):c.974G>T (p.Gly325Val)
|
|
|
NM_000350.3(ABCA4):c.978C>A (p.Tyr326Ter)
|
|
|
NM_000350.3(ABCA4):c.982G>A (p.Glu328Lys)
|
rs61751418
|
|
NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter)
|
rs61751418
|
|
NM_000350.3(ABCA4):c.983A>T (p.Glu328Val)
|
rs61751419
|
|
NM_000350.3(ABCA4):c.985G>T (p.Gly329Ter)
|
rs1199849243
|
|
NM_000350.3(ABCA4):c.989G>A (p.Gly330Asp)
|
rs61753058
|
|
NM_000350.3(ABCA4):c.991G>A (p.Gly331Ser)
|
|
|
NM_000350.3(ABCA4):c.997C>A (p.Arg333=)
|
|
|
NM_000350.3(ABCA4):c.99A>G (p.Leu33=)
|
rs777015231
|
|