ClinVar Miner

List of variants in gene ABCA4 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3376
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HGVS dbSNP gnomAD frequency
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=)
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

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