NM_000350.3(ABCA4):c.570+1888A>G
|
rs577059
|
0.99685
|
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.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.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.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.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.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.2653+23C>G
|
rs2297632
|
0.00122
|
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.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.3297A>C (p.Ser1099=)
|
rs148917659
|
0.00073
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_000350.3(ABCA4):c.1356+11_1356+12insG
|
rs1557794244
|
0.00065
|
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.6730-19G>A
|
rs375179475
|
0.00052
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_000350.3(ABCA4):c.5196+20G>A
|
rs55715124
|
0.00045
|
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.1692A>G (p.Pro564=)
|
rs143263315
|
0.00037
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
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.4296C>T (p.Asp1432=)
|
rs368147821
|
0.00032
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met)
|
rs139250920
|
0.00029
|
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.6119G>A (p.Arg2040Gln)
|
rs148460146
|
0.00024
|
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
|
rs61750130
|
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.1592A>G (p.Glu531Gly)
|
rs145718830
|
0.00020
|
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)
|
rs61750120
|
0.00019
|
NM_000350.3(ABCA4):c.4128+16G>A
|
rs61783968
|
0.00018
|
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
0.00018
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
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.2673A>T (p.Glu891Asp)
|
rs766079334
|
0.00014
|
NM_000350.3(ABCA4):c.3264C>T (p.Pro1088=)
|
rs140876019
|
0.00014
|
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)
|
rs121909207
|
0.00014
|
NM_000350.3(ABCA4):c.5196+1137G>A
|
rs778234759
|
0.00013
|
NM_000350.3(ABCA4):c.3329-11C>T
|
rs367580653
|
0.00011
|
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=)
|
rs570745701
|
0.00010
|
NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala)
|
rs779585931
|
0.00010
|
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser)
|
rs149071415
|
0.00009
|
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)
|
rs61750145
|
0.00009
|
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu)
|
rs190540405
|
0.00009
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
0.00008
|
NM_000350.3(ABCA4):c.673G>A (p.Val225Met)
|
rs540124349
|
0.00008
|
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)
|
rs201471607
|
0.00007
|
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg)
|
rs142253670
|
0.00007
|
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.1818C>T (p.Gly606=)
|
rs377164833
|
0.00006
|
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu)
|
rs61750202
|
0.00006
|
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=)
|
rs180921875
|
0.00006
|
NM_000350.3(ABCA4):c.302+1G>A
|
rs61751413
|
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.4594G>A (p.Asp1532Asn)
|
rs62642574
|
0.00006
|
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met)
|
rs62642575
|
0.00006
|
NM_000350.3(ABCA4):c.5898+20C>T
|
rs761429989
|
0.00006
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)
|
rs201117452
|
0.00005
|
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)
|
rs142732109
|
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.6449G>A (p.Cys2150Tyr)
|
rs61751384
|
0.00005
|
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.156T>G (p.His52Gln)
|
rs557725292
|
0.00004
|
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)
|
rs150774447
|
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.2300T>A (p.Val767Asp)
|
rs61751395
|
0.00004
|
NM_000350.3(ABCA4):c.3539C>T (p.Ser1180Leu)
|
rs267598773
|
0.00004
|
NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro)
|
rs61752430
|
0.00004
|
NM_000350.3(ABCA4):c.4539+2028C>T
|
rs869320785
|
0.00004
|
NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln)
|
rs61753021
|
0.00004
|
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu)
|
rs374687000
|
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.1003C>T (p.Leu335Phe)
|
rs1057520668
|
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.1609C>T (p.Arg537Cys)
|
rs61748556
|
0.00003
|
NM_000350.3(ABCA4):c.1655T>C (p.Val552Ala)
|
rs141864243
|
0.00003
|
NM_000350.3(ABCA4):c.1937+1G>A
|
rs61752401
|
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.3481C>T (p.Arg1161Cys)
|
rs553776104
|
0.00003
|
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)
|
rs138359497
|
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.5413A>G (p.Asn1805Asp)
|
rs61753029
|
0.00003
|
NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met)
|
rs61753032
|
0.00003
|
NM_000350.3(ABCA4):c.1538T>C (p.Val513Ala)
|
rs750393418
|
0.00002
|
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)
|
rs61749409
|
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.3050+5G>A
|
rs61751262
|
0.00002
|
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)
|
rs201855602
|
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.3898C>T (p.Arg1300Ter)
|
rs61752427
|
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.6109G>A (p.Ala2037Thr)
|
rs756555985
|
0.00002
|
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr)
|
rs61748537
|
0.00002
|
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly)
|
rs61751420
|
0.00001
|
NM_000350.3(ABCA4):c.1097C>T (p.Thr366Ile)
|
rs749494322
|
0.00001
|
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser)
|
rs794726979
|
0.00001
|
NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter)
|
rs886044725
|
0.00001
|
NM_000350.3(ABCA4):c.1529T>C (p.Leu510Pro)
|
rs886039299
|
0.00001
|
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)
|
rs61748558
|
0.00001
|
NM_000350.3(ABCA4):c.1817G>A (p.Gly606Asp)
|
rs147932486
|
0.00001
|
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu)
|
rs1057520211
|
0.00001
|
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)
|
rs61749420
|
0.00001
|
NM_000350.3(ABCA4):c.1A>G (p.Met1Val)
|
rs201738997
|
0.00001
|
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)
|
rs575453437
|
0.00001
|
NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg)
|
rs61749433
|
0.00001
|
NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs)
|
rs1005271380
|
0.00001
|
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter)
|
rs61752406
|
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.2742C>T (p.His914=)
|
rs1362746093
|
0.00001
|
NM_000350.3(ABCA4):c.2965G>A (p.Val989Ile)
|
rs552307838
|
0.00001
|
NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg)
|
rs61749456
|
0.00001
|
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)
|
rs61749459
|
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.3212C>T (p.Ser1071Leu)
|
rs61750065
|
0.00001
|
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)
|
rs61751398
|
0.00001
|
NM_000350.3(ABCA4):c.3352C>T (p.His1118Tyr)
|
rs369440533
|
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.3428C>A (p.Thr1143Asn)
|
rs767894041
|
0.00001
|
NM_000350.3(ABCA4):c.4022G>A (p.Gly1341Asp)
|
rs779248561
|
0.00001
|
NM_000350.3(ABCA4):c.4038G>A (p.Thr1346=)
|
rs142418039
|
0.00001
|
NM_000350.3(ABCA4):c.4124C>T (p.Ala1375Val)
|
rs1267585230
|
0.00001
|
NM_000350.3(ABCA4):c.4129-16G>A
|
rs762600499
|
0.00001
|
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg)
|
rs61750135
|
0.00001
|
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)
|
rs61750137
|
0.00001
|
NM_000350.3(ABCA4):c.4253+4C>T
|
rs61754044
|
0.00001
|
NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys)
|
rs762150575
|
0.00001
|
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)
|
rs758835368
|
0.00001
|
NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=)
|
rs750526487
|
0.00001
|
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)
|
rs61750146
|
0.00001
|
NM_000350.3(ABCA4):c.4501G>T (p.Glu1501Ter)
|
rs888059763
|
0.00001
|
NM_000350.3(ABCA4):c.4532C>A (p.Pro1511His)
|
rs886046564
|
0.00001
|
NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr)
|
rs1385119665
|
0.00001
|
NM_000350.3(ABCA4):c.5128A>C (p.Lys1710Gln)
|
rs778747291
|
0.00001
|
NM_000350.3(ABCA4):c.5138A>G (p.Gln1713Arg)
|
rs755826006
|
0.00001
|
NM_000350.3(ABCA4):c.5196+1G>A
|
rs61751377
|
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.5327C>T (p.Pro1776Leu)
|
rs1553187939
|
0.00001
|
NM_000350.3(ABCA4):c.5337C>G (p.Tyr1779Ter)
|
rs61750573
|
0.00001
|
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn)
|
rs371489809
|
0.00001
|
NM_000350.3(ABCA4):c.564del (p.Glu189fs)
|
rs886044148
|
0.00001
|
NM_000350.3(ABCA4):c.5659G>A (p.Val1887Met)
|
rs764320529
|
0.00001
|
NM_000350.3(ABCA4):c.5836-3C>A
|
rs1064793013
|
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.6088C>T (p.Arg2030Ter)
|
rs61751383
|
0.00001
|
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)
|
rs61753038
|
0.00001
|
NM_000350.3(ABCA4):c.6146A>C (p.Lys2049Thr)
|
rs760481450
|
0.00001
|
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys)
|
rs61750646
|
0.00001
|
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His)
|
rs1057520213
|
0.00001
|
NM_000350.3(ABCA4):c.6386+2C>G
|
rs61753043
|
0.00001
|
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)
|
rs61750654
|
0.00001
|
NM_000350.3(ABCA4):c.769-3C>T
|
rs368010652
|
0.00001
|
NM_000350.3(ABCA4):c.873G>A (p.Pro291=)
|
rs61753054
|
0.00001
|
NM_000350.3(ABCA4):c.933C>T (p.Thr311=)
|
rs61753056
|
0.00001
|
NM_000350.2:c.+10C>A
|
|
|
NM_000350.3(ABCA4):c.-41G>T
|
rs61784004
|
|
NM_000350.3(ABCA4):c.1002G>C (p.Val334=)
|
rs751548532
|
|
NM_000350.3(ABCA4):c.1013A>G (p.Asn338Ser)
|
rs1057522235
|
|
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter)
|
rs61752390
|
|
NM_000350.3(ABCA4):c.1099+166G>A
|
|
|
NM_000350.3(ABCA4):c.1099+80A>G
|
|
|
NM_000350.3(ABCA4):c.1100-14T>C
|
rs61753059
|
|
NM_000350.3(ABCA4):c.1100-2A>T
|
rs886042034
|
|
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter)
|
rs61751410
|
|
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.1240-65del
|
rs3215952
|
|
NM_000350.3(ABCA4):c.1248A>C (p.Ser416=)
|
rs61753960
|
|
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.1317G>A (p.Trp439Ter)
|
rs61752391
|
|
NM_000350.3(ABCA4):c.1325T>C (p.Phe442Ser)
|
rs61752392
|
|
NM_000350.3(ABCA4):c.1356+10dup
|
rs281865386
|
|
NM_000350.3(ABCA4):c.1356+3_1356+4insG
|
rs2101102814
|
|
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+6_1356+7insC
|
rs886046568
|
|
NM_000350.3(ABCA4):c.1363C>A (p.Leu455Met)
|
rs764170051
|
|
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.1546T>C (p.Tyr516His)
|
rs2101100877
|
|
NM_000350.3(ABCA4):c.158A>T (p.Glu53Val)
|
rs1662652110
|
|
NM_000350.3(ABCA4):c.160+5G>C
|
rs1064793004
|
|
NM_000350.3(ABCA4):c.161-275G>A
|
rs1889405
|
|
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.1760+22G>T
|
rs61754020
|
|
NM_000350.3(ABCA4):c.1765del (p.Trp589fs)
|
rs1557787559
|
|
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His)
|
rs1064793006
|
|
NM_000350.3(ABCA4):c.1825G>C (p.Ala609Pro)
|
rs2101078330
|
|
NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter)
|
rs1057517700
|
|
NM_000350.3(ABCA4):c.1844T>C (p.Val615Ala)
|
rs2101078285
|
|
NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu)
|
rs61751394
|
|
NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu)
|
rs760790294
|
|
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter)
|
rs865990202
|
|
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs)
|
rs61749422
|
|
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)
|
rs61749423
|
|
NM_000350.3(ABCA4):c.2069G>T (p.Gly690Val)
|
rs942734318
|
|
NM_000350.3(ABCA4):c.2073_2079delinsACCTGGTTCA (p.Ser692_Asn693delinsProGlySer)
|
|
|
NM_000350.3(ABCA4):c.2075C>T (p.Ser692Phe)
|
|
|
NM_000350.3(ABCA4):c.2160+1G>C
|
rs61749427
|
|
NM_000350.3(ABCA4):c.2182A>G (p.Ser728Gly)
|
rs1064793007
|
|
NM_000350.3(ABCA4):c.2249T>C (p.Leu750Pro)
|
rs1064793008
|
|
NM_000350.3(ABCA4):c.2294GTG[1] (p.Gly766del)
|
rs2101069736
|
|
NM_000350.3(ABCA4):c.229G>A (p.Val77Met)
|
rs1662603511
|
|
NM_000350.3(ABCA4):c.2330T>A (p.Ile777Asn)
|
rs2101069681
|
|
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.2382+1G>A
|
rs1660983058
|
|
NM_000350.3(ABCA4):c.2529G>A (p.Met843Ile)
|
rs1660938718
|
|
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val)
|
rs779466403
|
|
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn)
|
rs201223321
|
|
NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter)
|
rs1660843703
|
|
NM_000350.3(ABCA4):c.2859C>A (p.Phe953Leu)
|
|
|
NM_000350.3(ABCA4):c.286A>C (p.Asn96His)
|
rs61748529
|
|
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala)
|
rs368846708
|
|
NM_000350.3(ABCA4):c.288C>A (p.Asn96Lys)
|
rs886039297
|
|
NM_000350.3(ABCA4):c.2900C>T (p.Ala967Val)
|
rs1291080436
|
|
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile)
|
rs61752411
|
|
NM_000350.3(ABCA4):c.296dup (p.Asn99fs)
|
rs62645948
|
|
NM_000350.3(ABCA4):c.303-144G>C
|
rs191396638
|
|
NM_000350.3(ABCA4):c.303-71del
|
rs4147877
|
|
NM_000350.3(ABCA4):c.3050+362_3050+370del
|
rs1056176825
|
|
NM_000350.3(ABCA4):c.3050+509A>G
|
rs56703905
|
|
NM_000350.3(ABCA4):c.3051-16T>A
|
rs1064793009
|
|
NM_000350.3(ABCA4):c.3051-297dup
|
rs4147890
|
|
NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala)
|
rs61749457
|
|
NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter)
|
rs61751397
|
|
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)
|
rs387906385
|
|
NM_000350.3(ABCA4):c.3268T>C (p.Ser1090Pro)
|
rs1131691351
|
|
NM_000350.3(ABCA4):c.3305A>C (p.Asp1102Ala)
|
rs143689372
|
|
NM_000350.3(ABCA4):c.3328+2T>A
|
rs1660527423
|
|
NM_000350.3(ABCA4):c.3329-112del
|
rs4147891
|
|
NM_000350.3(ABCA4):c.3389T>C (p.Ile1130Thr)
|
rs1064793010
|
|
NM_000350.3(ABCA4):c.339C>T (p.Leu113=)
|
rs1553196340
|
|
NM_000350.3(ABCA4):c.3470T>G (p.Leu1157Ter)
|
rs2101048479
|
|
NM_000350.3(ABCA4):c.3522+10T>G
|
rs763137165
|
|
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg)
|
rs1064793011
|
|
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.3863-64del
|
rs4147892
|
|
NM_000350.3(ABCA4):c.3G>T (p.Met1Ile)
|
rs886041554
|
|
NM_000350.3(ABCA4):c.4049T>C (p.Leu1350Pro)
|
rs1064793012
|
|
NM_000350.3(ABCA4):c.4070C>T (p.Ala1357Val)
|
rs552517556
|
|
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=)
|
rs1064797113
|
|
NM_000350.3(ABCA4):c.4129-59G>A
|
|
|
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=)
|
rs1801666
|
|
NM_000350.3(ABCA4):c.4220C>T (p.Pro1407Leu)
|
rs1064797091
|
|
NM_000350.3(ABCA4):c.4225A>G (p.Ile1409Val)
|
rs2101035728
|
|
NM_000350.3(ABCA4):c.424C>T (p.His142Tyr)
|
rs1085307835
|
|
NM_000350.3(ABCA4):c.4253+5G>T
|
rs61750138
|
|
NM_000350.3(ABCA4):c.4254-171C>T
|
rs2297671
|
|
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.4353-33C>G
|
rs72958466
|
|
NM_000350.3(ABCA4):c.4406A>G (p.Asn1469Ser)
|
rs745321062
|
|
NM_000350.3(ABCA4):c.443-241del
|
rs4147878
|
|
NM_000350.3(ABCA4):c.443-244C>G
|
rs58269697
|
|
NM_000350.3(ABCA4):c.4519G>T (p.Gly1507Trp)
|
rs568792949
|
|
NM_000350.3(ABCA4):c.4537del (p.Gln1513fs)
|
rs281865377
|
|
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)
|
rs281865377
|
|
NM_000350.3(ABCA4):c.4539+2064C>T
|
rs1553189179
|
|
NM_000350.3(ABCA4):c.4540-2026CT[4]
|
rs151095233
|
|
NM_000350.3(ABCA4):c.4540-2036C>A
|
rs886044743
|
|
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)
|
rs138475920
|
|
NM_000350.3(ABCA4):c.4637T>G (p.Leu1546Ter)
|
rs1131691612
|
|
NM_000350.3(ABCA4):c.4639A>T (p.Lys1547Ter)
|
|
|
NM_000350.3(ABCA4):c.4668-15C>T
|
rs61754054
|
|
NM_000350.3(ABCA4):c.478G>T (p.Glu160Ter)
|
rs1064793005
|
|
NM_000350.3(ABCA4):c.5019-98C>T
|
rs116362338
|
|
NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe)
|
rs201996979
|
|
NM_000350.3(ABCA4):c.5090T>G (p.Phe1697Cys)
|
|
|
NM_000350.3(ABCA4):c.5137_5138delinsAG (p.Gln1713Arg)
|
rs1659840790
|
|
NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs)
|
rs61750566
|
|
NM_000350.3(ABCA4):c.5196+1078del
|
rs3838275
|
|
NM_000350.3(ABCA4):c.5196+1136C>A
|
rs114147805
|
|
NM_000350.3(ABCA4):c.5196+1364GT[6]
|
rs3838274
|
|
NM_000350.3(ABCA4):c.5196+3_5196+6del
|
rs61753023
|
|
NM_000350.3(ABCA4):c.5222_5232del (p.Leu1741fs)
|
rs61750569
|
|
NM_000350.3(ABCA4):c.5282C>G (p.Pro1761Arg)
|
rs1057520212
|
|
NM_000350.3(ABCA4):c.5312+2T>G
|
rs1307108997
|
|
NM_000350.3(ABCA4):c.5457C>G (p.Asn1819Lys)
|
rs1181315221
|
|
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.5461-291A>C
|
rs565155
|
|
NM_000350.3(ABCA4):c.5461-44dup
|
rs281865391
|
|
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp)
|
rs62642576
|
|
NM_000350.3(ABCA4):c.5531G>A (p.Gly1844Asp)
|
rs1659540498
|
|
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.5646G>A (p.Met1882Ile)
|
rs752160946
|
|
NM_000350.3(ABCA4):c.5714+5G>T
|
rs61751407
|
|
NM_000350.3(ABCA4):c.5715-107G>A
|
|
|
NM_000350.3(ABCA4):c.5843_5844inv (p.Pro1948Leu)
|
|
|
NM_000350.3(ABCA4):c.5867_5870del (p.Asp1956fs)
|
rs1553187228
|
|
NM_000350.3(ABCA4):c.5898+1G>A
|
rs61750638
|
|
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)
|
rs1064793014
|
|
NM_000350.3(ABCA4):c.5981G>A (p.Gly1994Glu)
|
|
|
NM_000350.3(ABCA4):c.6005+156_6005+160del
|
rs3831252
|
|
NM_000350.3(ABCA4):c.6005+330del
|
rs3838272
|
|
NM_000350.3(ABCA4):c.6006-16G>A
|
rs4147863
|
|
NM_000350.3(ABCA4):c.6031C>T (p.His2011Tyr)
|
rs1057523778
|
|
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)
|
rs886044758
|
|
NM_000350.3(ABCA4):c.6148-242C>G
|
rs11805625
|
|
NM_000350.3(ABCA4):c.6148-2A>G
|
|
|
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.6215G>A (p.Ser2072Asn)
|
rs1553186514
|
|
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.6238_6239del (p.Ser2080fs)
|
rs281865382
|
|
NM_000350.3(ABCA4):c.6282+193C>T
|
rs4147865
|
|
NM_000350.3(ABCA4):c.6283-347G>A
|
rs12086793
|
|
NM_000350.3(ABCA4):c.6284A>T (p.Asp2095Val)
|
rs1064793015
|
|
NM_000350.3(ABCA4):c.6328T>C (p.Trp2110Arg)
|
|
|
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro)
|
rs2100993895
|
|
NM_000350.3(ABCA4):c.6386+27G>A
|
|
|
NM_000350.3(ABCA4):c.6479+163C>G
|
|
|
NM_000350.3(ABCA4):c.6479+238A>G
|
rs4147866
|
|
NM_000350.3(ABCA4):c.6480-129G>C
|
rs10874827
|
|
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=)
|
rs61751379
|
|
NM_000350.3(ABCA4):c.655A>T (p.Arg219Ter)
|
rs757557272
|
|
NM_000350.3(ABCA4):c.6601_6602del (p.Arg2201fs)
|
rs61751409
|
|
NM_000350.3(ABCA4):c.6647C>G (p.Ala2216Gly)
|
rs886044763
|
|
NM_000350.3(ABCA4):c.664del (p.Ala222fs)
|
rs61748539
|
|
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)
|
rs61753046
|
|
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.67-11T>G
|
rs1662657188
|
|
NM_000350.3(ABCA4):c.6729+5_6729+19del
|
rs749526785
|
|
NM_000350.3(ABCA4):c.6730-27C>G
|
rs61748522
|
|
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.6816+1G>A
|
rs773599043
|
|
NM_000350.3(ABCA4):c.729T>C (p.Thr243=)
|
rs2101135548
|
|
NM_000350.3(ABCA4):c.731T>C (p.Leu244Pro)
|
rs62646864
|
|
NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter)
|
rs1662208035
|
|
NM_000350.3(ABCA4):c.760T>C (p.Phe254Leu)
|
rs1662206970
|
|
NM_000350.3(ABCA4):c.834del (p.Asp279fs)
|
rs779743222
|
|
NM_000350.3(ABCA4):c.853C>T (p.Gln285Ter)
|
rs886041951
|
|
NM_000350.3(ABCA4):c.859-11C>T
|
rs61753053
|
|
NM_000350.3(ABCA4):c.859-9T>C
|
rs529598960
|
|
NM_000350.3(ABCA4):c.913C>T (p.Gln305Ter)
|
rs1661669685
|
|