ClinVar Miner

List of variants in gene ABCA4 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1240
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_000350.3(ABCA4):c.*372A>G rs3747961 0.07805
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000350.3(ABCA4):c.1938-773A>G rs41292683 0.03309
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141 0.03191
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.6732G>A (p.Val2244=) rs77293072 0.02574
NM_000350.3(ABCA4):c.5019-131G>A rs55951001 0.02375
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.6480-224T>C rs74641924 0.01690
NM_000350.3(ABCA4):c.6148-403A>G rs115876130 0.01575
NM_000350.3(ABCA4):c.*134G>A rs76201551 0.01542
NM_000350.3(ABCA4):c.4634+136G>T rs75843983 0.01518
NM_000350.3(ABCA4):c.5197-93C>T rs72725148 0.01501
NM_000350.3(ABCA4):c.3523-288C>T rs72725162 0.01477
NM_000350.3(ABCA4):c.6729+61G>A rs56086814 0.01469
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034 0.01415
NM_000350.3(ABCA4):c.769-157T>G rs76277422 0.01380
NM_000350.3(ABCA4):c.4129-70T>A rs143653650 0.01351
NM_000350.3(ABCA4):c.1239+71T>A rs113931184 0.01349
NM_000350.3(ABCA4):c.4667+133C>T rs41292679 0.01322
NM_000350.3(ABCA4):c.2653+239T>C rs75331129 0.01320
NM_000350.3(ABCA4):c.3051-193T>C rs4847272 0.01240
NM_000350.3(ABCA4):c.4668-113G>A rs115406048 0.01232
NM_000350.3(ABCA4):c.1761-50G>A rs61754022 0.01220
NM_000350.3(ABCA4):c.2588-33C>T rs77805080 0.01197
NM_000350.3(ABCA4):c.3522+31C>A rs115209782 0.01145
NM_000350.3(ABCA4):c.1554+287T>C rs141819216 0.01096
NM_000350.3(ABCA4):c.5585-126T>C rs75549082 0.01088
NM_000350.3(ABCA4):c.3328+125T>A rs6675679 0.01087
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555 0.01028
NM_000350.3(ABCA4):c.3051-14T>A rs17110922 0.01008
NM_000350.3(ABCA4):c.6729+21C>T rs1800699 0.00981
NM_000350.3(ABCA4):c.67-237C>T rs116306224 0.00946
NM_000350.3(ABCA4):c.2161-287dup rs3838277 0.00942
NM_000350.3(ABCA4):c.1239+66G>A rs200943894 0.00927
NM_000350.3(ABCA4):c.1357-110C>A rs74104506 0.00927
NM_000350.3(ABCA4):c.6730-32T>A rs116314807 0.00921
NM_000350.3(ABCA4):c.3523-85C>T rs72958470 0.00912
NM_000350.3(ABCA4):c.3523-234G>A rs72958474 0.00908
NM_000350.3(ABCA4):c.3523-230G>T rs72958472 0.00905
NM_000350.3(ABCA4):c.1761-64G>A rs116585401 0.00864
NM_000350.3(ABCA4):c.1938-227G>A rs75396612 0.00855
NM_000350.3(ABCA4):c.768+508A>G rs77933221 0.00825
NM_000350.3(ABCA4):c.6479+272T>C rs113740227 0.00705
NM_000350.3(ABCA4):c.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.1927G>A (p.Val643Met) rs61749417 0.00491
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.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.3862+232G>A rs11582150 0.00342
NM_000350.3(ABCA4):c.4352+14C>T rs75359153 0.00325
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
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.*26C>A rs200946608 0.00193
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.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.2654-36C>T rs145368920 0.00139
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_000350.3(ABCA4):c.3191-20C>T rs61754036 0.00130
NM_000350.3(ABCA4):c.2653+23C>G rs2297632 0.00122
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148 0.00120
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.1932C>T (p.Asp644=) rs117400594 0.00078
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.*299G>C rs538804441 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.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.5992G>A (p.Val1998Ile) rs147870733 0.00036
NM_000350.3(ABCA4):c.1969A>G (p.Ile657Val) rs199590367 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.4296C>T (p.Asp1432=) rs368147821 0.00032
NM_000350.3(ABCA4):c.2383-12G>A rs368548294 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.2744-5C>T rs76305791 0.00028
NM_000350.3(ABCA4):c.294C>G (p.Asn98Lys) rs145133167 0.00028
NM_000350.3(ABCA4):c.2383-13C>T rs56026711 0.00026
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_000350.3(ABCA4):c.2362G>A (p.Ala788Thr) rs149214080 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.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.6283-8C>T rs371076070 0.00020
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.6333C>T (p.Asn2111=) rs371572812 0.00019
NM_000350.3(ABCA4):c.4556C>T (p.Thr1519Met) rs115859773 0.00018
NM_000350.3(ABCA4):c.1617C>T (p.Leu539=) rs778990662 0.00017
NM_000350.3(ABCA4):c.3607+13C>T rs374630957 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.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.3051-18G>A rs757046756 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.6283-7C>A rs377629178 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.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.3191-19G>A rs371455065 0.00011
NM_000350.3(ABCA4):c.3329-11C>T rs367580653 0.00011
NM_000350.3(ABCA4):c.*55G>T rs201160433 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.1983G>C (p.Leu661=) rs373643636 0.00009
NM_000350.3(ABCA4):c.2769A>G (p.Pro923=) rs562861525 0.00009
NM_000350.3(ABCA4):c.5319G>A (p.Ala1773=) rs139120604 0.00009
NM_000350.3(ABCA4):c.573C>T (p.Phe191=) rs374454045 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.872C>T (p.Pro291Leu) rs190540405 0.00009
NM_000350.3(ABCA4):c.1861A>G (p.Arg621Gly) rs141122703 0.00008
NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu) rs375184282 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.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.2931G>A (p.Thr977=) rs146963098 0.00007
NM_000350.3(ABCA4):c.5991C>T (p.Thr1997=) rs201278133 0.00007
NM_000350.3(ABCA4):c.1267C>T (p.His423Tyr) rs138044729 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.2634G>A (p.Ser878=) rs755162138 0.00006
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875 0.00006
NM_000350.3(ABCA4):c.2743+12A>C rs559119402 0.00006
NM_000350.3(ABCA4):c.3057G>A (p.Thr1019=) rs61749458 0.00006
NM_000350.3(ABCA4):c.3523-9C>G rs374302531 0.00006
NM_000350.3(ABCA4):c.4540-6C>T rs765178838 0.00006
NM_000350.3(ABCA4):c.5197-4C>T rs758825834 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.1251T>C (p.Thr417=) rs374336459 0.00005
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452 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.3607+14G>C rs750329533 0.00005
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met) rs142732109 0.00005
NM_000350.3(ABCA4):c.5197-12T>C rs756757152 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.1477G>A (p.Asp493Asn) rs541850518 0.00004
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) rs74516571 0.00004
NM_000350.3(ABCA4):c.201G>A (p.Leu67=) rs764200212 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.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.4128+12G>A rs746262766 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.5055C>T (p.Cys1685=) rs749943475 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.5584+13C>T rs767882054 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.6006-19A>T rs370004173 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.1554+8G>C rs1357084392 0.00003
NM_000350.3(ABCA4):c.161-19C>G rs373796884 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.2311A>T (p.Thr771Ser) rs758090662 0.00003
NM_000350.3(ABCA4):c.33C>T (p.Leu11=) rs1046418468 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.3975G>A (p.Pro1325=) rs146548044 0.00003
NM_000350.3(ABCA4):c.4008G>A (p.Glu1336=) rs772961093 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.5313-19G>C rs767779797 0.00003
NM_000350.3(ABCA4):c.571-5T>G rs200013776 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.6573G>A (p.Gly2191=) rs940769390 0.00003
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.1647C>T (p.Ala549=) rs149270496 0.00002
NM_000350.3(ABCA4):c.1773T>A (p.Ser591=) rs779659025 0.00002
NM_000350.3(ABCA4):c.1833G>T (p.Leu611=) rs774263519 0.00002
NM_000350.3(ABCA4):c.1962T>C (p.Cys654=) rs976467572 0.00002
NM_000350.3(ABCA4):c.2340C>T (p.Phe780=) rs772140318 0.00002
NM_000350.3(ABCA4):c.2862C>T (p.Tyr954=) rs757870374 0.00002
NM_000350.3(ABCA4):c.303-18G>A rs1388384690 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.3312C>T (p.Leu1104=) rs755930166 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.3867C>T (p.Gly1289=) rs573418899 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.4140G>A (p.Pro1380=) rs139109485 0.00002
NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=) rs763857670 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.4530G>A (p.Pro1510=) rs750519678 0.00002
NM_000350.3(ABCA4):c.5214T>C (p.Ser1738=) rs772236881 0.00002
NM_000350.3(ABCA4):c.5585-6G>A rs767919716 0.00002
NM_000350.3(ABCA4):c.5714+12C>G rs756818076 0.00002
NM_000350.3(ABCA4):c.5928C>T (p.Ala1976=) rs376767237 0.00002
NM_000350.3(ABCA4):c.6005+18C>T rs768742562 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.6528C>T (p.Asp2176=) rs767917933 0.00002
NM_000350.3(ABCA4):c.6579C>T (p.Phe2193=) rs763108716 0.00002
NM_000350.3(ABCA4):c.6708C>G (p.Val2236=) rs762561820 0.00002
NM_000350.3(ABCA4):c.768+14T>A rs368450540 0.00002
NM_000350.3(ABCA4):c.87C>T (p.Leu29=) rs752224099 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.1082C>A (p.Ser361Tyr) rs748487419 0.00001
NM_000350.3(ABCA4):c.1095A>G (p.Arg365=) rs1244319420 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.1167G>A (p.Ala389=) rs372704965 0.00001
NM_000350.3(ABCA4):c.1239+9C>G rs776985109 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.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.1590T>C (p.Asp530=) rs759022571 0.00001
NM_000350.3(ABCA4):c.161-9G>C rs1662606961 0.00001
NM_000350.3(ABCA4):c.1659C>T (p.Phe553=) rs61752396 0.00001
NM_000350.3(ABCA4):c.1694C>A (p.Pro565His) rs765891059 0.00001
NM_000350.3(ABCA4):c.1791C>T (p.Pro597=) rs749863229 0.00001
NM_000350.3(ABCA4):c.1821G>A (p.Gly607=) rs201059645 0.00001
NM_000350.3(ABCA4):c.1850A>G (p.Gln617Arg) rs769283184 0.00001
NM_000350.3(ABCA4):c.1917C>T (p.Tyr639=) rs61749415 0.00001
NM_000350.3(ABCA4):c.1986A>G (p.Ala662=) rs564272715 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.2160+9A>G rs1447782860 0.00001
NM_000350.3(ABCA4):c.2161-10T>C rs1368951863 0.00001
NM_000350.3(ABCA4):c.2469C>T (p.Asn823=) rs927791164 0.00001
NM_000350.3(ABCA4):c.2559C>T (p.Leu853=) rs767396224 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.2653+14A>T rs1238597969 0.00001
NM_000350.3(ABCA4):c.2654-6G>A rs759220318 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.2742C>T (p.His914=) rs1362746093 0.00001
NM_000350.3(ABCA4):c.2841C>T (p.Asp947=) rs200551567 0.00001
NM_000350.3(ABCA4):c.2884C>T (p.Leu962=) rs774598114 0.00001
NM_000350.3(ABCA4):c.2973A>G (p.Gly991=) rs561658869 0.00001
NM_000350.3(ABCA4):c.3096A>G (p.Gly1032=) rs778400379 0.00001
NM_000350.3(ABCA4):c.3204A>G (p.Arg1068=) rs749704079 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.3318G>A (p.Lys1106=) rs756731889 0.00001
NM_000350.3(ABCA4):c.3328+13G>T rs1268934159 0.00001
NM_000350.3(ABCA4):c.3387C>T (p.Arg1129=) rs1179486125 0.00001
NM_000350.3(ABCA4):c.3523-14T>A rs562525380 0.00001
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=) rs187965758 0.00001
NM_000350.3(ABCA4):c.3900A>G (p.Arg1300=) rs886044739 0.00001
NM_000350.3(ABCA4):c.4038G>A (p.Thr1346=) rs142418039 0.00001
NM_000350.3(ABCA4):c.4071G>A (p.Ala1357=) rs766134402 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.4218C>T (p.His1406=) rs1307696264 0.00001
NM_000350.3(ABCA4):c.4230T>C (p.Tyr1410=) rs748170407 0.00001
NM_000350.3(ABCA4):c.423T>A (p.Thr141=) rs753034126 0.00001
NM_000350.3(ABCA4):c.4253+7G>A rs369267759 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.4353-10C>A rs964712135 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.4506C>T (p.Cys1502=) rs61750149 0.00001
NM_000350.3(ABCA4):c.4518C>T (p.Ala1506=) rs146011912 0.00001
NM_000350.3(ABCA4):c.4536C>T (p.Pro1512=) rs764982444 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.471G>A (p.Leu157=) rs890284134 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.525C>T (p.Asp175=) rs1294826352 0.00001
NM_000350.3(ABCA4):c.5361C>T (p.Val1787=) rs757545714 0.00001
NM_000350.3(ABCA4):c.5385A>G (p.Leu1795=) rs548112205 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.5585-12G>A rs373314451 0.00001
NM_000350.3(ABCA4):c.5593C>T (p.His1865Tyr) rs201707267 0.00001
NM_000350.3(ABCA4):c.5619C>T (p.Asp1873=) rs748907485 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.5811C>T (p.Ile1937=) rs759451313 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.588G>A (p.Pro196=) rs763400973 0.00001
NM_000350.3(ABCA4):c.5955C>T (p.Leu1985=) rs201545948 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.6148-7T>A rs1557759590 0.00001
NM_000350.3(ABCA4):c.6216T>C (p.Ser2072=) rs758795465 0.00001
NM_000350.3(ABCA4):c.6270G>A (p.Pro2090=) rs755217474 0.00001
NM_000350.3(ABCA4):c.6339C>T (p.Ile2113=) rs61750649 0.00001
NM_000350.3(ABCA4):c.6396A>G (p.Glu2132=) rs375151013 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.6730-20C>T rs1013156137 0.00001
NM_000350.3(ABCA4):c.6817-17G>A rs749454214 0.00001
NM_000350.3(ABCA4):c.726C>T (p.Asp242=) rs766869751 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.816T>C (p.Ser272=) rs547765909 0.00001
NM_000350.3(ABCA4):c.822A>T (p.Gly274=) rs771910126 0.00001
NM_000350.3(ABCA4):c.873G>A (p.Pro291=) rs61753054 0.00001
NM_000350.3(ABCA4):c.1002G>C (p.Val334=) rs751548532
NM_000350.3(ABCA4):c.1020T>C (p.Tyr340=)
NM_000350.3(ABCA4):c.1026C>T (p.Asp342=)
NM_000350.3(ABCA4):c.102T>G (p.Ser34=)
NM_000350.3(ABCA4):c.1035T>C (p.Tyr345=)
NM_000350.3(ABCA4):c.1050G>A (p.Gly350=)
NM_000350.3(ABCA4):c.1056C>T (p.Asp352=) rs1456527211
NM_000350.3(ABCA4):c.1059C>T (p.Ser353=)
NM_000350.3(ABCA4):c.1077C>A (p.Ile359=)
NM_000350.3(ABCA4):c.1086T>C (p.Tyr362=)
NM_000350.3(ABCA4):c.1099+166G>A
NM_000350.3(ABCA4):c.1099+80A>G
NM_000350.3(ABCA4):c.1100-12G>A rs1488335217
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.1100-7C>G
NM_000350.3(ABCA4):c.1101A>T (p.Thr367=)
NM_000350.3(ABCA4):c.1131G>C (p.Leu377=)
NM_000350.3(ABCA4):c.114C>G (p.Val38=) rs2101166958
NM_000350.3(ABCA4):c.1158T>C (p.Ala386=)
NM_000350.3(ABCA4):c.1167G>T (p.Ala389=)
NM_000350.3(ABCA4):c.1173G>A (p.Lys391=) rs561739905
NM_000350.3(ABCA4):c.1182G>A (p.Leu394=)
NM_000350.3(ABCA4):c.1182G>C (p.Leu394=)
NM_000350.3(ABCA4):c.1201A>T (p.Thr401Ser) rs559674920
NM_000350.3(ABCA4):c.1221A>G (p.Ala407=)
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+49TG[10] 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.1240-20_1240-9dup rs767755028
NM_000350.3(ABCA4):c.1260A>G (p.Glu420=)
NM_000350.3(ABCA4):c.1268_1269inv (p.His423Arg)
NM_000350.3(ABCA4):c.1272T>C (p.Val424=) rs61748551
NM_000350.3(ABCA4):c.1275G>A (p.Arg425=)
NM_000350.3(ABCA4):c.1290C>G (p.Ala430=)
NM_000350.3(ABCA4):c.1302A>G (p.Val434=)
NM_000350.3(ABCA4):c.1347C>T (p.Asn449=)
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+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+5_1356+6insC rs1553193877
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>T (p.Leu455=)
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.1386C>T (p.Asp462=)
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.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.1460G>A (p.Arg487Gln) rs145614671
NM_000350.3(ABCA4):c.1470G>A (p.Gln490=)
NM_000350.3(ABCA4):c.1473T>G (p.Ala491=)
NM_000350.3(ABCA4):c.1476C>T (p.Asp492=)
NM_000350.3(ABCA4):c.1485C>T (p.Ala495=)
NM_000350.3(ABCA4):c.1491C>T (p.Phe497=)
NM_000350.3(ABCA4):c.1518T>G (p.Thr506=)
NM_000350.3(ABCA4):c.1527C>T (p.Thr509=)
NM_000350.3(ABCA4):c.1536G>T (p.Leu512=)
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.1555-18C>T
NM_000350.3(ABCA4):c.1555-4G>A
NM_000350.3(ABCA4):c.1555-7T>C
NM_000350.3(ABCA4):c.1584C>T (p.Tyr528=)
NM_000350.3(ABCA4):c.160+14G>A
NM_000350.3(ABCA4):c.160+16T>C
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.161-20C>T
NM_000350.3(ABCA4):c.1626G>A (p.Leu542=)
NM_000350.3(ABCA4):c.162C>T (p.Cys54=) rs2101162940
NM_000350.3(ABCA4):c.1641C>T (p.Phe547=) rs1043103980
NM_000350.3(ABCA4):c.1647C>A (p.Ala549=) rs149270496
NM_000350.3(ABCA4):c.165T>C (p.His55=)
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.1713C>T (p.Ile571=)
NM_000350.3(ABCA4):c.1728C>T (p.Asp576=)
NM_000350.3(ABCA4):c.1743C>T (p.Thr581=)
NM_000350.3(ABCA4):c.1746T>C (p.Asn582=)
NM_000350.3(ABCA4):c.1752T>C (p.Ile584=)
NM_000350.3(ABCA4):c.1760+22G>T rs61754020
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.1761-5C>G
NM_000350.3(ABCA4):c.1761-9T>C rs1310384480
NM_000350.3(ABCA4):c.1764T>C (p.Tyr588=)
NM_000350.3(ABCA4):c.177G>A (p.Lys59=)
NM_000350.3(ABCA4):c.1785T>C (p.Ala595=)
NM_000350.3(ABCA4):c.1785T>G (p.Ala595=) rs1249348439
NM_000350.3(ABCA4):c.1794G>A (p.Val598=)
NM_000350.3(ABCA4):c.1854G>A (p.Gly618=)
NM_000350.3(ABCA4):c.186C>G (p.Pro62=)
NM_000350.3(ABCA4):c.1877C>T (p.Ala626Val)
NM_000350.3(ABCA4):c.189A>T (p.Ser63=)
NM_000350.3(ABCA4):c.1902C>G (p.Leu634=)
NM_000350.3(ABCA4):c.1905G>A (p.Gln635=)
NM_000350.3(ABCA4):c.1926C>T (p.Phe642=)
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+37C>T
NM_000350.3(ABCA4):c.1937+425C>T
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.1938-621G>T
NM_000350.3(ABCA4):c.1938-6C>T
NM_000350.3(ABCA4):c.1947C>T (p.Ile649=)
NM_000350.3(ABCA4):c.1968T>A (p.Pro656=)
NM_000350.3(ABCA4):c.1998T>G (p.Ser666=)
NM_000350.3(ABCA4):c.2001C>T (p.Val667=)
NM_000350.3(ABCA4):c.2038T>C (p.Leu680=)
NM_000350.3(ABCA4):c.2041C>A (p.Arg681=)
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.2055C>T (p.Thr685=)
NM_000350.3(ABCA4):c.2081C>T (p.Ala694Val) rs770140944
NM_000350.3(ABCA4):c.2085G>A (p.Val695=)
NM_000350.3(ABCA4):c.2103C>T (p.Phe701=)
NM_000350.3(ABCA4):c.2121C>T (p.Ile707=)
NM_000350.3(ABCA4):c.2148G>A (p.Thr716=)
NM_000350.3(ABCA4):c.2154C>T (p.Phe718=)
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.2161-18A>G
NM_000350.3(ABCA4):c.2161-20G>A
NM_000350.3(ABCA4):c.2161-7dup
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.2175A>T (p.Leu725=)
NM_000350.3(ABCA4):c.2184C>T (p.Ser728=)
NM_000350.3(ABCA4):c.2193C>T (p.Phe731=)
NM_000350.3(ABCA4):c.219C>T (p.Ile73=)
NM_000350.3(ABCA4):c.2205G>T (p.Leu735=)
NM_000350.3(ABCA4):c.2212T>C (p.Leu738=)
NM_000350.3(ABCA4):c.2217T>A (p.Ala739=) rs2101069891
NM_000350.3(ABCA4):c.2244C>T (p.Cys748=)
NM_000350.3(ABCA4):c.2298T>C (p.Gly766=)
NM_000350.3(ABCA4):c.2320C>T (p.Leu774=)
NM_000350.3(ABCA4):c.2361C>T (p.Thr787=) rs777636827
NM_000350.3(ABCA4):c.2367G>A (p.Glu789=)
NM_000350.3(ABCA4):c.2379T>C (p.Ala793=)
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+8C>G
NM_000350.3(ABCA4):c.2383-10C>T
NM_000350.3(ABCA4):c.2383-19C>T
NM_000350.3(ABCA4):c.2383-6C>T
NM_000350.3(ABCA4):c.2388A>G (p.Leu796=)
NM_000350.3(ABCA4):c.2391G>A (p.Leu797=)
NM_000350.3(ABCA4):c.2397G>A (p.Pro799=) rs778503467
NM_000350.3(ABCA4):c.2409A>G (p.Gly803=)
NM_000350.3(ABCA4):c.2415C>T (p.Gly805=) rs754658763
NM_000350.3(ABCA4):c.2418T>C (p.Thr806=)
NM_000350.3(ABCA4):c.2436T>C (p.Phe812=) rs2101067870
NM_000350.3(ABCA4):c.2454G>T (p.Gly818=)
NM_000350.3(ABCA4):c.2455C>T (p.Leu819=)
NM_000350.3(ABCA4):c.2457G>A (p.Leu819=) rs1252565537
NM_000350.3(ABCA4):c.246T>C (p.Phe82=)
NM_000350.3(ABCA4):c.2472C>A (p.Ile824=)
NM_000350.3(ABCA4):c.2478C>T (p.Asn826=) rs2101067799
NM_000350.3(ABCA4):c.2509C>T (p.Leu837=)
NM_000350.3(ABCA4):c.252C>T (p.Ser84=)
NM_000350.3(ABCA4):c.2559C>G (p.Leu853=)
NM_000350.3(ABCA4):c.2562T>C (p.Ala854=)
NM_000350.3(ABCA4):c.2568C>T (p.Tyr856=)
NM_000350.3(ABCA4):c.2583T>C (p.Phe861=)
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+20G>T
NM_000350.3(ABCA4):c.2587+8T>A
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.2588-6T>G
NM_000350.3(ABCA4):c.2616C>T (p.Tyr872=)
NM_000350.3(ABCA4):c.2622T>A (p.Leu874=)
NM_000350.3(ABCA4):c.2625A>G (p.Leu875=)
NM_000350.3(ABCA4):c.2631G>A (p.Glu877=)
NM_000350.3(ABCA4):c.2646C>A (p.Gly882=)
NM_000350.3(ABCA4):c.2653+16C>T
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.2664C>T (p.Thr888=) rs1318811412
NM_000350.3(ABCA4):c.2673A>G (p.Glu891=)
NM_000350.3(ABCA4):c.2680C>T (p.Leu894=) rs1660763115
NM_000350.3(ABCA4):c.2691C>T (p.Thr897=)
NM_000350.3(ABCA4):c.270T>C (p.Ser90=)
NM_000350.3(ABCA4):c.2730A>C (p.Pro910=)
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.2744-13T>C
NM_000350.3(ABCA4):c.2744-16T>C
NM_000350.3(ABCA4):c.2744-19T>A
NM_000350.3(ABCA4):c.2744-7dup
NM_000350.3(ABCA4):c.2745C>T (p.Asp915=) rs2101057503
NM_000350.3(ABCA4):c.2748C>T (p.Ser916=)
NM_000350.3(ABCA4):c.2757A>G (p.Glu919=)
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.2784G>A (p.Gly928=)
NM_000350.3(ABCA4):c.2790C>T (p.Cys930=)
NM_000350.3(ABCA4):c.27T>C (p.Leu9=)
NM_000350.3(ABCA4):c.2802G>C (p.Leu934=)
NM_000350.3(ABCA4):c.2805A>G (p.Val935=)
NM_000350.3(ABCA4):c.2817G>A (p.Glu939=)
NM_000350.3(ABCA4):c.2832A>G (p.Pro944=)
NM_000350.3(ABCA4):c.2865G>A (p.Glu955=)
NM_000350.3(ABCA4):c.2877C>G (p.Thr959=)
NM_000350.3(ABCA4):c.2904G>A (p.Gly968=)
NM_000350.3(ABCA4):c.2918+1060G>T rs763003887
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.2919-383C>T
NM_000350.3(ABCA4):c.2919-9G>A
NM_000350.3(ABCA4):c.2922C>T (p.Ser974=) rs757766297
NM_000350.3(ABCA4):c.2928G>A (p.Leu976=)
NM_000350.3(ABCA4):c.2934T>C (p.Gly978=)
NM_000350.3(ABCA4):c.2946A>T (p.Pro982=)
NM_000350.3(ABCA4):c.2955G>A (p.Gly985=) rs2101053574
NM_000350.3(ABCA4):c.2961G>T (p.Val987=)
NM_000350.3(ABCA4):c.2982T>C (p.Ile994=) rs1660622253
NM_000350.3(ABCA4):c.2994G>A (p.Leu998=) rs891025260
NM_000350.3(ABCA4):c.300C>T (p.Ser100=)
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+8T>C rs2101162172
NM_000350.3(ABCA4):c.303-144G>C rs191396638
NM_000350.3(ABCA4):c.3030G>A (p.Gln1010=)
NM_000350.3(ABCA4):c.3033C>T (p.His1011=)
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+362_3050+370del rs1056176825
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.3051-18G>C rs757046756
NM_000350.3(ABCA4):c.3051-19C>G rs375804885
NM_000350.3(ABCA4):c.3051-19C>T
NM_000350.3(ABCA4):c.3060G>A (p.Val1020=)
NM_000350.3(ABCA4):c.3075G>A (p.Leu1025=)
NM_000350.3(ABCA4):c.3099G>A (p.Lys1033=) rs772300002
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.3120G>A (p.Leu1040=)
NM_000350.3(ABCA4):c.312G>A (p.Arg104=)
NM_000350.3(ABCA4):c.3138G>A (p.Leu1046=)
NM_000350.3(ABCA4):c.3165G>A (p.Arg1055=)
NM_000350.3(ABCA4):c.3183C>T (p.Asp1061=)
NM_000350.3(ABCA4):c.3184C>T (p.Leu1062=)
NM_000350.3(ABCA4):c.3190+16T>C
NM_000350.3(ABCA4):c.3190+16T>G
NM_000350.3(ABCA4):c.3191-10G>A
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.3192T>A (p.Gly1064=)
NM_000350.3(ABCA4):c.3210G>C (p.Leu1070=) rs113398504
NM_000350.3(ABCA4):c.3210G>T (p.Leu1070=)
NM_000350.3(ABCA4):c.3219C>G (p.Ala1073=) rs2101050684
NM_000350.3(ABCA4):c.3288G>A (p.Ser1096=)
NM_000350.3(ABCA4):c.3294C>T (p.Arg1098=)
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+645T>C
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.3329-7C>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.3354C>T (p.His1118=)
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.339C>T (p.Leu113=) rs1553196340
NM_000350.3(ABCA4):c.3411G>A (p.Arg1137=)
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.3465G>A (p.Leu1155=) rs776603655
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.3522+18G>A rs753755944
NM_000350.3(ABCA4):c.3522+18G>C rs753755944
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.3523-4G>T
NM_000350.3(ABCA4):c.3552C>T (p.Phe1184=)
NM_000350.3(ABCA4):c.3567A>G (p.Pro1189=)
NM_000350.3(ABCA4):c.3573C>T (p.His1191=)
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.3597A>G (p.Gln1199=)
NM_000350.3(ABCA4):c.3607+12A>G rs895044441
NM_000350.3(ABCA4):c.3607+14G>A
NM_000350.3(ABCA4):c.372T>G (p.Arg124=)
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.3863-64del rs4147892
NM_000350.3(ABCA4):c.3863-7A>G
NM_000350.3(ABCA4):c.3863-8C>T
NM_000350.3(ABCA4):c.387A>G (p.Leu129=) rs1327990482
NM_000350.3(ABCA4):c.3888C>T (p.Asn1296=)
NM_000350.3(ABCA4):c.3906C>T (p.Pro1302=)
NM_000350.3(ABCA4):c.3909C>T (p.Cys1303=)
NM_000350.3(ABCA4):c.3924G>A (p.Glu1308=)
NM_000350.3(ABCA4):c.3948C>T (p.Asp1316=)
NM_000350.3(ABCA4):c.3954T>C (p.Asn1318=)
NM_000350.3(ABCA4):c.3960C>T (p.Cys1320=)
NM_000350.3(ABCA4):c.39G>A (p.Lys13=)
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.4041G>C (p.Gly1347=)
NM_000350.3(ABCA4):c.4048C>T (p.Leu1350=)
NM_000350.3(ABCA4):c.4059G>A (p.Gln1353=)
NM_000350.3(ABCA4):c.4080C>G (p.Val1360=) rs2101036844
NM_000350.3(ABCA4):c.4098C>T (p.Thr1366=)
NM_000350.3(ABCA4):c.4101C>T (p.Ile1367=)
NM_000350.3(ABCA4):c.4119C>T (p.Phe1373=)
NM_000350.3(ABCA4):c.4122G>A (p.Leu1374=)
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+8T>G
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.4129-59G>A
NM_000350.3(ABCA4):c.4129-9C>A
NM_000350.3(ABCA4):c.4131C>T (p.Ile1377=)
NM_000350.3(ABCA4):c.4140G>T (p.Pro1380=)
NM_000350.3(ABCA4):c.4146C>T (p.Thr1382=)
NM_000350.3(ABCA4):c.414C>A (p.Thr138=)
NM_000350.3(ABCA4):c.4173T>C (p.Ser1391=)
NM_000350.3(ABCA4):c.4185T>G (p.Pro1395=)
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.4206T>A (p.Ala1402=) rs2101035782
NM_000350.3(ABCA4):c.4215T>C (p.Leu1405=) rs2101035767
NM_000350.3(ABCA4):c.4225A>G (p.Ile1409Val) rs2101035728
NM_000350.3(ABCA4):c.4233G>T (p.Gly1411=)
NM_000350.3(ABCA4):c.4239G>A (p.Gln1413=)
NM_000350.3(ABCA4):c.4242C>T (p.Tyr1414=)
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.4254-12C>T
NM_000350.3(ABCA4):c.4254-19C>T
NM_000350.3(ABCA4):c.4320T>C (p.Phe1440=) rs2101034937
NM_000350.3(ABCA4):c.4333C>T (p.Leu1445=)
NM_000350.3(ABCA4):c.4338G>A (p.Lys1446=)
NM_000350.3(ABCA4):c.4352+15G>T
NM_000350.3(ABCA4):c.4353-33C>G rs72958466
NM_000350.3(ABCA4):c.4353-5A>G
NM_000350.3(ABCA4):c.4356G>A (p.Glu1452=) rs1270054065
NM_000350.3(ABCA4):c.4362C>G (p.Pro1454=)
NM_000350.3(ABCA4):c.4374A>G (p.Ser1458=) rs2101033799
NM_000350.3(ABCA4):c.4398G>A (p.Val1466=)
NM_000350.3(ABCA4):c.4410C>T (p.Ile1470=) rs2101033703
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+7A>G
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.443-5T>C rs918493891
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.4461C>T (p.Ser1487=)
NM_000350.3(ABCA4):c.4467G>A (p.Arg1489=)
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.4500A>G (p.Pro1500=) rs1571263368
NM_000350.3(ABCA4):c.4515T>C (p.Gly1505=) rs1443735812
NM_000350.3(ABCA4):c.4527C>T (p.Leu1509=) rs1660135968
NM_000350.3(ABCA4):c.4533C>T (p.Pro1511=)
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.4539+19A>G
NM_000350.3(ABCA4):c.4539+2001G>T
NM_000350.3(ABCA4):c.4539+20C>T
NM_000350.3(ABCA4):c.4539+20del
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.4540-2036C>A rs886044743
NM_000350.3(ABCA4):c.4540-5C>G rs1476415689
NM_000350.3(ABCA4):c.4540-8T>C
NM_000350.3(ABCA4):c.4554C>T (p.Ser1518=)
NM_000350.3(ABCA4):c.4557G>A (p.Thr1519=)
NM_000350.3(ABCA4):c.4560A>G (p.Glu1520=)
NM_000350.3(ABCA4):c.4563T>A (p.Ile1521=)
NM_000350.3(ABCA4):c.4566A>G (p.Leu1522=)
NM_000350.3(ABCA4):c.4569A>G (p.Gln1523=)
NM_000350.3(ABCA4):c.456A>T (p.Arg152=)
NM_000350.3(ABCA4):c.4575G>A (p.Leu1525=)
NM_000350.3(ABCA4):c.4587C>T (p.Asn1529=)
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.462G>A (p.Arg154=) rs1253706083
NM_000350.3(ABCA4):c.4634+15T>G
NM_000350.3(ABCA4):c.4634+20T>A
NM_000350.3(ABCA4):c.4634+20T>C
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.4667+10T>C
NM_000350.3(ABCA4):c.4667+11A>G
NM_000350.3(ABCA4):c.4668-13G>C
NM_000350.3(ABCA4):c.4668-15C>A
NM_000350.3(ABCA4):c.4668-16C>G
NM_000350.3(ABCA4):c.4668-19T>G
NM_000350.3(ABCA4):c.4668-5G>C rs2101024259
NM_000350.3(ABCA4):c.4668-8C>T
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.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.5034G>A (p.Val1678=)
NM_000350.3(ABCA4):c.5037T>C (p.Asp1679=)
NM_000350.3(ABCA4):c.5049C>T (p.Ala1683=)
NM_000350.3(ABCA4):c.5115G>A (p.Arg1705=)
NM_000350.3(ABCA4):c.5121C>T (p.Asn1707=)
NM_000350.3(ABCA4):c.5133C>T (p.His1711=)
NM_000350.3(ABCA4):c.5139G>A (p.Gln1713=)
NM_000350.3(ABCA4):c.513C>T (p.Ile171=)
NM_000350.3(ABCA4):c.5154G>C (p.Val1718=)
NM_000350.3(ABCA4):c.516C>G (p.Gly172=)
NM_000350.3(ABCA4):c.516C>T (p.Gly172=)
NM_000350.3(ABCA4):c.5196+1136C>A rs114147805
NM_000350.3(ABCA4):c.5196+12T>C
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.5197-15T>C
NM_000350.3(ABCA4):c.5197-9del
NM_000350.3(ABCA4):c.5208C>T (p.Ser1736=)
NM_000350.3(ABCA4):c.5211G>A (p.Val1737=)
NM_000350.3(ABCA4):c.5226G>T (p.Val1742=)
NM_000350.3(ABCA4):c.5232C>T (p.Gly1744=)
NM_000350.3(ABCA4):c.5244G>A (p.Gly1748=)
NM_000350.3(ABCA4):c.5265T>A (p.Thr1755=)
NM_000350.3(ABCA4):c.5265T>G (p.Thr1755=)
NM_000350.3(ABCA4):c.5289T>G (p.Leu1763=)
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.5310T>C (p.Tyr1770=) rs2101015376
NM_000350.3(ABCA4):c.5312+10T>G
NM_000350.3(ABCA4):c.5312+12G>C
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.5313-6A>G
NM_000350.3(ABCA4):c.531G>A (p.Val177=)
NM_000350.3(ABCA4):c.5328C>T (p.Pro1776=)
NM_000350.3(ABCA4):c.5373C>T (p.Ala1791=)
NM_000350.3(ABCA4):c.5379G>A (p.Val1793=)
NM_000350.3(ABCA4):c.5398C>T (p.Leu1800=)
NM_000350.3(ABCA4):c.5415C>T (p.Asn1805=)
NM_000350.3(ABCA4):c.5421T>C (p.Ser1807=) rs1273776607
NM_000350.3(ABCA4):c.5436C>A (p.Ile1812=) rs2101013654
NM_000350.3(ABCA4):c.5454T>C (p.Asn1818=)
NM_000350.3(ABCA4):c.5460+169_5460+184del rs375415519
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.5487G>A (p.Leu1829=)
NM_000350.3(ABCA4):c.5502T>C (p.Ile1834=) rs1443219544
NM_000350.3(ABCA4):c.5511C>T (p.Pro1837=)
NM_000350.3(ABCA4):c.5523G>A (p.Leu1841=)
NM_000350.3(ABCA4):c.5529G>A (p.Arg1843=)
NM_000350.3(ABCA4):c.5548C>T (p.Leu1850=)
NM_000350.3(ABCA4):c.5550G>A (p.Leu1850=)
NM_000350.3(ABCA4):c.5562G>C (p.Val1854=)
NM_000350.3(ABCA4):c.5571C>T (p.Val1857=) rs2101008301
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.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.5585-3del
NM_000350.3(ABCA4):c.5585-4C>G rs2101007726
NM_000350.3(ABCA4):c.5592G>A (p.Glu1864=)
NM_000350.3(ABCA4):c.5598T>G (p.Ser1866=) rs1439924722
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.5622G>C (p.Leu1874=)
NM_000350.3(ABCA4):c.5634C>T (p.Asn1878=)
NM_000350.3(ABCA4):c.5640T>A (p.Phe1880Leu) rs374811709
NM_000350.3(ABCA4):c.5643C>T (p.Ala1881=)
NM_000350.3(ABCA4):c.5652G>A (p.Val1884=) rs1434831679
NM_000350.3(ABCA4):c.5670C>T (p.Phe1890=)
NM_000350.3(ABCA4):c.5673C>T (p.Leu1891=)
NM_000350.3(ABCA4):c.567G>A (p.Glu189=)
NM_000350.3(ABCA4):c.5683C>T (p.Leu1895=)
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+7G>T rs367976871
NM_000350.3(ABCA4):c.5700C>T (p.Phe1900=) rs2101007435
NM_000350.3(ABCA4):c.571-10C>A rs1369046705
NM_000350.3(ABCA4):c.571-12T>G rs1357187982
NM_000350.3(ABCA4):c.571-20G>A
NM_000350.3(ABCA4):c.571-7C>T
NM_000350.3(ABCA4):c.571-9T>G
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.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.5763G>A (p.Val1921=)
NM_000350.3(ABCA4):c.5796A>G (p.Gly1932=)
NM_000350.3(ABCA4):c.5818C>T (p.Leu1940=) rs1659466058
NM_000350.3(ABCA4):c.5820A>G (p.Leu1940=)
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.5836-13T>C
NM_000350.3(ABCA4):c.5836-15C>T
NM_000350.3(ABCA4):c.5836-20G>C
NM_000350.3(ABCA4):c.5843_5844inv (p.Pro1948Leu)
NM_000350.3(ABCA4):c.585C>A (p.Val195=)
NM_000350.3(ABCA4):c.5880C>T (p.Val1960=) rs746250336
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+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.5899-20A>G
NM_000350.3(ABCA4):c.5899-4C>A rs1659431693
NM_000350.3(ABCA4):c.5899-4C>T
NM_000350.3(ABCA4):c.5907C>T (p.Gly1969=)
NM_000350.3(ABCA4):c.5910C>T (p.Leu1970=) rs1659430709
NM_000350.3(ABCA4):c.5922T>C (p.Asn1974=) rs202088666
NM_000350.3(ABCA4):c.5937A>C (p.Thr1979=)
NM_000350.3(ABCA4):c.594G>A (p.Leu198=)
NM_000350.3(ABCA4):c.5961G>A (p.Gly1987=)
NM_000350.3(ABCA4):c.5970A>G (p.Thr1990=) rs2101003264
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.597G>A (p.Ala199=)
NM_000350.3(ABCA4):c.6005+11T>C
NM_000350.3(ABCA4):c.6005+15C>T
NM_000350.3(ABCA4):c.6005+17T>C
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>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.6006-4G>A
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.6007A>T (p.Ile2003Phe) rs1170554250
NM_000350.3(ABCA4):c.6024T>C (p.Ser2008=)
NM_000350.3(ABCA4):c.6054T>C (p.Pro2018=)
NM_000350.3(ABCA4):c.6078G>A (p.Leu2026=)
NM_000350.3(ABCA4):c.6084A>G (p.Thr2028=) rs2101000451
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.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.6141C>A (p.Ile2047=)
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+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.6162T>C (p.Ser2054=) rs1214772797
NM_000350.3(ABCA4):c.6165T>C (p.Ile2055=)
NM_000350.3(ABCA4):c.6168G>A (p.Lys2056=) rs2100995671
NM_000350.3(ABCA4):c.6174G>A (p.Leu2058=)
NM_000350.3(ABCA4):c.6183T>C (p.Thr2061=)
NM_000350.3(ABCA4):c.618C>T (p.Ser206=) rs61748536
NM_000350.3(ABCA4):c.6192C>T (p.Ala2064=)
NM_000350.3(ABCA4):c.6199C>T (p.Leu2067=)
NM_000350.3(ABCA4):c.619G>C (p.Glu207Gln) rs147807073
NM_000350.3(ABCA4):c.6210G>A (p.Thr2070=) rs1368610622
NM_000350.3(ABCA4):c.6210G>T (p.Thr2070=)
NM_000350.3(ABCA4):c.6249C>A (p.Ile2083=)
NM_000350.3(ABCA4):c.6282+10G>A
NM_000350.3(ABCA4):c.6282+11G>C
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+8C>A
NM_000350.3(ABCA4):c.6282+8C>T
NM_000350.3(ABCA4):c.6283-13C>G
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.6297A>C (p.Thr2099=)
NM_000350.3(ABCA4):c.6360G>A (p.Gly2120=)
NM_000350.3(ABCA4):c.6369G>A (p.Val2123=)
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+20G>A
NM_000350.3(ABCA4):c.6386+27G>A
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.6406C>T (p.Leu2136=)
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.6420G>A (p.Leu2140=)
NM_000350.3(ABCA4):c.6459C>A (p.Thr2153=)
NM_000350.3(ABCA4):c.6459C>G (p.Thr2153=)
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.6480-11G>A
NM_000350.3(ABCA4):c.6480-5C>T
NM_000350.3(ABCA4):c.6480-9A>C rs2100988432
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.6519C>T (p.Ser2173=) rs1557757728
NM_000350.3(ABCA4):c.6532C>T (p.Leu2178=)
NM_000350.3(ABCA4):c.6537T>G (p.Leu2179=)
NM_000350.3(ABCA4):c.6564C>T (p.Phe2188=)
NM_000350.3(ABCA4):c.66+13G>C
NM_000350.3(ABCA4):c.66+17G>T
NM_000350.3(ABCA4):c.66+7G>A rs2101191191
NM_000350.3(ABCA4):c.6618C>T (p.Leu2206=)
NM_000350.3(ABCA4):c.6639C>T (p.Ser2213=)
NM_000350.3(ABCA4):c.6648G>A (p.Ala2216=)
NM_000350.3(ABCA4):c.6654C>A (p.Ile2218=)
NM_000350.3(ABCA4):c.6657C>T (p.Phe2219=)
NM_000350.3(ABCA4):c.6669C>A (p.Leu2223=) rs375495352
NM_000350.3(ABCA4):c.6675C>T (p.His2225=)
NM_000350.3(ABCA4):c.6681C>T (p.Asp2227=)
NM_000350.3(ABCA4):c.6685C>T (p.Leu2229=)
NM_000350.3(ABCA4):c.6693C>T (p.Ile2231=) rs1801626
NM_000350.3(ABCA4):c.669G>A (p.Lys223=)
NM_000350.3(ABCA4):c.67-11T>G rs1662657188
NM_000350.3(ABCA4):c.67-25CT[2] rs1275820554
NM_000350.3(ABCA4):c.67-25CT[5]
NM_000350.3(ABCA4):c.67-5T>C
NM_000350.3(ABCA4):c.67-8T>C
NM_000350.3(ABCA4):c.6714G>A (p.Gln2238=)
NM_000350.3(ABCA4):c.6721C>T (p.Leu2241=)
NM_000350.3(ABCA4):c.6729+9G>A
NM_000350.3(ABCA4):c.6730-16C>T
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.6747T>C (p.Ala2249=)
NM_000350.3(ABCA4):c.6759T>G (p.Thr2253=)
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.6801C>G (p.Ala2267=)
NM_000350.3(ABCA4):c.6816+11T>A
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.6817-9C>T
NM_000350.3(ABCA4):c.687G>A (p.Leu229=)
NM_000350.3(ABCA4):c.696C>A (p.Leu232=)
NM_000350.3(ABCA4):c.696C>G (p.Leu232=)
NM_000350.3(ABCA4):c.705C>A (p.Gly235=)
NM_000350.3(ABCA4):c.708C>T (p.Thr236=)
NM_000350.3(ABCA4):c.714G>A (p.Gln238=)
NM_000350.3(ABCA4):c.729T>C (p.Thr243=) rs2101135548
NM_000350.3(ABCA4):c.732G>A (p.Leu244=)
NM_000350.3(ABCA4):c.738C>T (p.Ala246=)
NM_000350.3(ABCA4):c.759C>G (p.Leu253=)
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.769-19G>A
NM_000350.3(ABCA4):c.769-19G>C
NM_000350.3(ABCA4):c.769-4A>G
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.813A>G (p.Arg271=)
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+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.859-241A>C
NM_000350.3(ABCA4):c.859-244A>G
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.886T>C (p.Leu296=)
NM_000350.3(ABCA4):c.891G>C (p.Leu297=)
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.936T>C (p.Phe312=)
NM_000350.3(ABCA4):c.943C>T (p.Leu315=)
NM_000350.3(ABCA4):c.957G>C (p.Leu319=)
NM_000350.3(ABCA4):c.997C>A (p.Arg333=)
NM_000350.3(ABCA4):c.99A>G (p.Leu33=) rs777015231

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