ClinVar Miner

List of variants in gene ABCA4 reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1272
Download table as spreadsheet
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.1938-773A>G rs41292683 0.03309
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.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.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.443-228C>A rs143202470 0.00468
NM_000350.3(ABCA4):c.2918+195G>A rs140802897 0.00457
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.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.466A>G (p.Ile156Val) rs62646863 0.00222
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.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.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.2690C>T (p.Thr897Ile) rs61749440 0.00133
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.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.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.2919-16C>T rs202012712 0.00049
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.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.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.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.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.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.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.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.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.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.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.2743+11G>A rs1368571528 0.00001
NM_000350.3(ABCA4):c.2841C>T (p.Asp947=) rs200551567 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.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.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.1242C>T (p.Ala414=)
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+7G>A rs1661600322
NM_000350.3(ABCA4):c.1356+7_1356+8insA
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.1467C>T (p.Ser489=)
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>C (p.Leu512=)
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>A
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.1555-9T>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+17A>G
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.1854G>T (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+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.1938-5T>C
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+13G>A
NM_000350.3(ABCA4):c.2160+15G>A
NM_000350.3(ABCA4):c.2160+19G>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.2271G>A (p.Lys757=)
NM_000350.3(ABCA4):c.2298T>C (p.Gly766=)
NM_000350.3(ABCA4):c.2320C>T (p.Leu774=)
NM_000350.3(ABCA4):c.2322G>C (p.Leu774=)
NM_000350.3(ABCA4):c.2343C>T (p.Ala781=)
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+20C>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.2512C>T (p.Leu838=)
NM_000350.3(ABCA4):c.2514G>C (p.Leu838=)
NM_000350.3(ABCA4):c.252C>T (p.Ser84=)
NM_000350.3(ABCA4):c.2532C>T (p.Leu844=)
NM_000350.3(ABCA4):c.2559C>G (p.Leu853=)
NM_000350.3(ABCA4):c.255C>A (p.Pro85=)
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.2604A>G (p.Pro868=)
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.2634G>T (p.Ser878=)
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.2715G>A (p.Glu905=)
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.2744-8C>T
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>A (p.Leu934=)
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.2895T>C (p.Asn965=)
NM_000350.3(ABCA4):c.2904G>A (p.Gly968=)
NM_000350.3(ABCA4):c.2913C>G (p.Thr971=)
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.2970G>A (p.Gly990=)
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.3003C>T (p.Val1001=)
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.3024T>C (p.Cys1008=)
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.3042G>A (p.Leu1014=)
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.3069C>T (p.His1023=)
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.3190+19A>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.3231G>C (p.Val1077=)
NM_000350.3(ABCA4):c.3279C>T (p.Asp1093=)
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.3329-8C>A
NM_000350.3(ABCA4):c.3330C>A (p.Gly1110=) rs762909447
NM_000350.3(ABCA4):c.3330C>T (p.Gly1110=)
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.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.3523-16C>T
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.3523-8T>G rs1660449762
NM_000350.3(ABCA4):c.3528C>G (p.Thr1176=)
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>T (p.Asp1194=)
NM_000350.3(ABCA4):c.3583C>T (p.Leu1195=)
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.387A>G (p.Leu129=) rs1327990482
NM_000350.3(ABCA4):c.3888C>T (p.Asn1296=)
NM_000350.3(ABCA4):c.3894C>T (p.Asn1298=)
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.4029G>A (p.Gln1343=)
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.4129-19C>T
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.4253+16G>T
NM_000350.3(ABCA4):c.4253+43G>T
NM_000350.3(ABCA4):c.4254-12C>T
NM_000350.3(ABCA4):c.4254-19C>T
NM_000350.3(ABCA4):c.4311G>A (p.Lys1437=)
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.4344G>A (p.Gly1448=)
NM_000350.3(ABCA4):c.4352+15G>T
NM_000350.3(ABCA4):c.4352+20del
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.4540-5C>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.4596C>T (p.Asp1532=)
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.4656C>A (p.Val1552=)
NM_000350.3(ABCA4):c.465T>C (p.Asp155=)
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.469T>C (p.Leu157=) rs2101143851
NM_000350.3(ABCA4):c.477T>C (p.Asp159=)
NM_000350.3(ABCA4):c.489G>A (p.Leu163=)
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+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.5461-15A>G
NM_000350.3(ABCA4):c.5461-19T>C rs1238760895
NM_000350.3(ABCA4):c.5487G>A (p.Leu1829=)
NM_000350.3(ABCA4):c.5499C>T (p.Leu1833=)
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.5584+18C>A
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.5585-20C>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.5643C>T (p.Ala1881=)
NM_000350.3(ABCA4):c.564A>C (p.Pro188=)
NM_000350.3(ABCA4):c.5652G>A (p.Val1884=) rs1434831679
NM_000350.3(ABCA4):c.5664G>A (p.Val1888=)
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.571-10C>T
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.5901C>T (p.Cys1967=)
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.5931C>A (p.Gly1977=)
NM_000350.3(ABCA4):c.5937A>C (p.Thr1979=)
NM_000350.3(ABCA4):c.594G>A (p.Leu198=)
NM_000350.3(ABCA4):c.5958T>A (p.Thr1986=)
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+13C>T
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.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.6141C>T (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.630G>T (p.Leu210=)
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+13C>G
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.6459C>T (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.648C>T (p.Phe216=)
NM_000350.3(ABCA4):c.6492C>T (p.Gly2164=)
NM_000350.3(ABCA4):c.6498C>A (p.Ile2166=)
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.67-9T>G
NM_000350.3(ABCA4):c.6714G>A (p.Gln2238=)
NM_000350.3(ABCA4):c.6729+19A>C
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.6774C>G (p.Leu2258=)
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.6817-12C>T
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.81G>A (p.Val27=) rs148357131
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+13A>T
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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.