ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 523
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HGVS dbSNP
NM_000350.2(ABCA4):c.1007C>G (p.Ser336Cys) rs61748547
NM_000350.2(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420
NM_000350.2(ABCA4):c.1018T>G (p.Tyr340Asp) rs61748548
NM_000350.2(ABCA4):c.1025_1038delACAATAACTATAAG (p.Asp342Glyfs) rs63749083
NM_000350.2(ABCA4):c.1036A>T (p.Lys346Ter) rs61751422
NM_000350.2(ABCA4):c.1037A>C (p.Lys346Thr) rs61752389
NM_000350.2(ABCA4):c.1066A>T (p.Lys356Ter) rs61751391
NM_000350.2(ABCA4):c.106delT (p.Leu37Trpfs) rs62642569
NM_000350.2(ABCA4):c.1086T>G (p.Tyr362Ter) rs61752390
NM_000350.2(ABCA4):c.1100-14T>C rs61753059
NM_000350.2(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549
NM_000350.2(ABCA4):c.1220C>T (p.Ala407Val) rs61751264
NM_000350.2(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550
NM_000350.2(ABCA4):c.122G>A (p.Trp41Ter) rs61751410
NM_000350.2(ABCA4):c.1240-14C>T rs4147830
NM_000350.2(ABCA4):c.1248A>C (p.Ser416=) rs61753960
NM_000350.2(ABCA4):c.1268A>C (p.His423Pro) rs3112831
NM_000350.2(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.2(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.2(ABCA4):c.1272T>C (p.Val424=) rs61748551
NM_000350.2(ABCA4):c.1317G>A (p.Trp439Ter) rs61752391
NM_000350.2(ABCA4):c.1325T>C (p.Phe442Ser) rs61752392
NM_000350.2(ABCA4):c.1335C>G (p.Ser445Arg) rs61748552
NM_000350.2(ABCA4):c.1341delG (p.Met448Terfs) rs61748553
NM_000350.2(ABCA4):c.1344delG (p.Met448Ilefs) rs61748554
NM_000350.2(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.2(ABCA4):c.1356+5delG rs281865386
NM_000350.2(ABCA4):c.1356+6G>C rs281865387
NM_000350.2(ABCA4):c.1387_1388delTT (p.Leu464Glufs) rs61748555
NM_000350.2(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548
NM_000350.2(ABCA4):c.141G>A (p.Pro47=) rs4847281
NM_000350.2(ABCA4):c.1506_1514delATTTAACAT (p.Phe503_Ile505del) rs62645953
NM_000350.2(ABCA4):c.1513_1517delATCAC (p.Ile505Terfs) rs281865398
NM_000350.2(ABCA4):c.1526delC (p.Leu510Serfs) rs62646867
NM_000350.2(ABCA4):c.1554+1G>A rs61752393
NM_000350.2(ABCA4):c.1555-1G>A rs61752394
NM_000350.2(ABCA4):c.1569T>G (p.Asp523Glu) rs62646868
NM_000350.2(ABCA4):c.1575T>G (p.Phe525Leu) rs62646869
NM_000350.2(ABCA4):c.160+1G>A rs61748523
NM_000350.2(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556
NM_000350.2(ABCA4):c.161-45G>T rs61753048
NM_000350.2(ABCA4):c.1610G>A (p.Arg537His) rs61752395
NM_000350.2(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447
NM_000350.2(ABCA4):c.161G>T (p.Cys54Phe) rs150774447
NM_000350.2(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.2(ABCA4):c.1623A>G (p.Leu541=) rs61753962
NM_000350.2(ABCA4):c.1645G>C (p.Ala549Pro) rs61748557
NM_000350.2(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558
NM_000350.2(ABCA4):c.1653G>A (p.Val551=) rs61753963
NM_000350.2(ABCA4):c.1659C>G (p.Phe553Leu) rs61752396
NM_000350.2(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559
NM_000350.2(ABCA4):c.1715G>C (p.Arg572Pro) rs61748559
NM_000350.2(ABCA4):c.174C>G (p.Asn58Lys) rs61748524
NM_000350.2(ABCA4):c.1760+22G>T rs61754020
NM_000350.2(ABCA4):c.1760+2T>G rs61751385
NM_000350.2(ABCA4):c.1761-37G>A rs61754021
NM_000350.2(ABCA4):c.1761-50G>A rs61754022
NM_000350.2(ABCA4):c.1761-54G>A rs4147833
NM_000350.2(ABCA4):c.1789C>T (p.Pro597Ser) rs61751393
NM_000350.2(ABCA4):c.178G>A (p.Ala60Thr) rs61751411
NM_000350.2(ABCA4):c.1798G>T (p.Asp600Tyr) rs61752397
NM_000350.2(ABCA4):c.179C>T (p.Ala60Val) rs55732384
NM_000350.2(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.2(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410
NM_000350.2(ABCA4):c.1811T>G (p.Ile604Ser) rs61749411
NM_000350.2(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412
NM_000350.2(ABCA4):c.1819G>T (p.Gly607Trp) rs61749412
NM_000350.2(ABCA4):c.1822T>C (p.Phe608Leu) rs61752398
NM_000350.2(ABCA4):c.1823T>A (p.Phe608Tyr) rs61752399
NM_000350.2(ABCA4):c.1848del (p.Glu616Aspfs) rs61751386
NM_000350.2(ABCA4):c.1853G>A (p.Gly618Glu) rs61751394
NM_000350.2(ABCA4):c.1878G>A (p.Ala626=) rs61754023
NM_000350.2(ABCA4):c.1894delA (p.Ile632Serfs) rs61749413
NM_000350.2(ABCA4):c.1903C>A (p.Gln635Lys) rs61749414
NM_000350.2(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414
NM_000350.2(ABCA4):c.1908G>T (p.Gln636His) rs61752400
NM_000350.2(ABCA4):c.1917C>A (p.Tyr639Ter) rs61749415
NM_000350.2(ABCA4):c.1917C>T (p.Tyr639=) rs61749415
NM_000350.2(ABCA4):c.1922G>C (p.Cys641Ser) rs61749416
NM_000350.2(ABCA4):c.1927G>A (p.Val643Met) rs61749417
NM_000350.2(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.2(ABCA4):c.1933G>A (p.Asp645Asn) rs61749418
NM_000350.2(ABCA4):c.1937+1G>A rs61752401
NM_000350.2(ABCA4):c.1937+2T>C rs61749419
NM_000350.2(ABCA4):c.1938-1G>A rs61751263
NM_000350.2(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.2(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420
NM_000350.2(ABCA4):c.1989G>A (p.Trp663Ter) rs61749421
NM_000350.2(ABCA4):c.1A>G (p.Met1Val) rs201738997
NM_000350.2(ABCA4):c.2005_2006delAT (p.Met669Aspfs) rs61749422
NM_000350.2(ABCA4):c.203C>G (p.Pro68Arg) rs62654397
NM_000350.2(ABCA4):c.203C>T (p.Pro68Leu) rs62654397
NM_000350.2(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.2(ABCA4):c.2057T>C (p.Leu686Ser) rs61752402
NM_000350.2(ABCA4):c.2090G>A (p.Trp697Ter) rs61749424
NM_000350.2(ABCA4):c.2099G>A (p.Trp700Ter) rs61749425
NM_000350.2(ABCA4):c.2127G>A (p.Ser709=) rs61754025
NM_000350.2(ABCA4):c.2147C>T (p.Thr716Met) rs61749426
NM_000350.2(ABCA4):c.214G>A (p.Gly72Arg) rs61751412
NM_000350.2(ABCA4):c.2160+1G>C rs61749427
NM_000350.2(ABCA4):c.223T>G (p.Cys75Gly) rs61748526
NM_000350.2(ABCA4):c.2291G>A (p.Cys764Tyr) rs61749428
NM_000350.2(ABCA4):c.2292delT (p.Cys764Terfs) rs61752403
NM_000350.2(ABCA4):c.2294G>A (p.Ser765Asn) rs61749429
NM_000350.2(ABCA4):c.2295T>G (p.Ser765Arg) rs61752404
NM_000350.2(ABCA4):c.2300T>A (p.Val767Asp) rs61751395
NM_000350.2(ABCA4):c.230T>A (p.Val77Glu) rs61748527
NM_000350.2(ABCA4):c.2337C>A (p.Cys779Ter) rs61749430
NM_000350.2(ABCA4):c.234C>T (p.Asn78=) rs61753049
NM_000350.2(ABCA4):c.2383-10C>G rs61754026
NM_000350.2(ABCA4):c.2385_2400del16 (p.Ser795Argfs) rs281865399
NM_000350.2(ABCA4):c.2390T>C (p.Leu797Pro) rs61749432
NM_000350.2(ABCA4):c.2409_2410delAT (p.Phe804Trpfs) rs61752405
NM_000350.2(ABCA4):c.2453G>A (p.Gly818Glu) rs61750202
NM_000350.2(ABCA4):c.2461T>A (p.Trp821Arg) rs61749433
NM_000350.2(ABCA4):c.2472C>T (p.Ile824=) rs61749434
NM_000350.2(ABCA4):c.247_250delCAAA (p.Gln83Alafs) rs61748528
NM_000350.2(ABCA4):c.249_250insCAAA (p.Ser84Glnfs) rs61751390
NM_000350.2(ABCA4):c.2536G>C (p.Asp846His) rs61754027
NM_000350.2(ABCA4):c.2546T>C (p.Val849Ala) rs61749435
NM_000350.2(ABCA4):c.2552G>A (p.Gly851Asp) rs61749436
NM_000350.2(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437
NM_000350.2(ABCA4):c.2564G>A (p.Trp855Ter) rs61752406
NM_000350.2(ABCA4):c.2565G>A (p.Trp855Ter) rs61749438
NM_000350.2(ABCA4):c.2571delT (p.Asp858Ilefs) rs61752407
NM_000350.2(ABCA4):c.2585C>T (p.Pro862Leu) rs61751382
NM_000350.2(ABCA4):c.2587+1G>A rs61749439
NM_000350.2(ABCA4):c.2588-12C>G rs61751396
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.2616_2617delCT (p.Phe873Serfs) rs62642560
NM_000350.2(ABCA4):c.2617T>C (p.Phe873Leu) rs62642570
NM_000350.2(ABCA4):c.2653+60G>C rs61754028
NM_000350.2(ABCA4):c.2654-21A>T rs61754029
NM_000350.2(ABCA4):c.2654-48G>C rs12069723
NM_000350.2(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.2(ABCA4):c.2692G>A (p.Glu898Lys) rs61749441
NM_000350.2(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030
NM_000350.2(ABCA4):c.2703A>G (p.Thr901=) rs61749442
NM_000350.2(ABCA4):c.2703A>T (p.Thr901=) rs61749442
NM_000350.2(ABCA4):c.2744-38delC rs281865389
NM_000350.2(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.2(ABCA4):c.2804T>C (p.Val935Ala) rs61749444
NM_000350.2(ABCA4):c.2820C>G (p.Pro940=) rs61749445
NM_000350.2(ABCA4):c.2827C>G (p.Arg943Gly) rs61749446
NM_000350.2(ABCA4):c.2827C>T (p.Arg943Trp) rs61749446
NM_000350.2(ABCA4):c.2827delC (p.Arg943Glyfs) rs281865513
NM_000350.2(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.2(ABCA4):c.2860T>G (p.Tyr954Asp) rs61749447
NM_000350.2(ABCA4):c.286A>C (p.Asn96His) rs61748529
NM_000350.2(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000350.2(ABCA4):c.2870A>G (p.Gln957Arg) rs61749448
NM_000350.2(ABCA4):c.2876C>T (p.Thr959Ile) rs61752409
NM_000350.2(ABCA4):c.2877C>T (p.Thr959=) rs61754033
NM_000350.2(ABCA4):c.2884delC (p.Leu962Trpfs) rs61750203
NM_000350.2(ABCA4):c.2888del (p.Gly963Alafs) rs61752410
NM_000350.2(ABCA4):c.2893A>G (p.Asn965Asp) rs61749449
NM_000350.2(ABCA4):c.2912C>A (p.Thr971Asn) rs61749450
NM_000350.2(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.2(ABCA4):c.2920T>C (p.Ser974Pro) rs281865400
NM_000350.2(ABCA4):c.2932G>T (p.Gly978Cys) rs61749452
NM_000350.2(ABCA4):c.2933G>A (p.Gly978Asp) rs61749453
NM_000350.2(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.2(ABCA4):c.2964C>T (p.Leu988=) rs61754034
NM_000350.2(ABCA4):c.2966T>C (p.Val989Ala) rs61749454
NM_000350.2(ABCA4):c.296dupA (p.Asn99Lysfs) rs62645948
NM_000350.2(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
NM_000350.2(ABCA4):c.2971G>T (p.Gly991Ter) rs61749455
NM_000350.2(ABCA4):c.2977_2984delGACATTGA (p.Asp993Asnfs) rs281865401
NM_000350.2(ABCA4):c.298T>C (p.Ser100Pro) rs61748530
NM_000350.2(ABCA4):c.2992C>T (p.Leu998=) rs62642566
NM_000350.2(ABCA4):c.302+1G>A rs61751413
NM_000350.2(ABCA4):c.302+20C>T rs61753050
NM_000350.2(ABCA4):c.302+26A>G rs2297634
NM_000350.2(ABCA4):c.303-71delA rs4147877
NM_000350.2(ABCA4):c.3041T>G (p.Leu1014Arg) rs61749456
NM_000350.2(ABCA4):c.3050+5G>A rs61751262
NM_000350.2(ABCA4):c.3051-14T>A rs17110922
NM_000350.2(ABCA4):c.3055A>G (p.Thr1019Ala) rs61749457
NM_000350.2(ABCA4):c.3057G>T (p.Thr1019=) rs61749458
NM_000350.2(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459
NM_000350.2(ABCA4):c.3085C>T (p.Gln1029Ter) rs61751397
NM_000350.2(ABCA4):c.3091A>G (p.Lys1031Glu) rs61750060
NM_000350.2(ABCA4):c.3106G>A (p.Glu1036Lys) rs61750061
NM_000350.2(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.2(ABCA4):c.3149G>A (p.Gly1050Asp) rs61750062
NM_000350.2(ABCA4):c.3163C>T (p.Arg1055Trp) rs61752412
NM_000350.2(ABCA4):c.3187T>C (p.Ser1063Pro) rs61752413
NM_000350.2(ABCA4):c.3190+1G>T rs61752414
NM_000350.2(ABCA4):c.3190+83A>T rs61754035
NM_000350.2(ABCA4):c.3191-20C>T rs61754036
NM_000350.2(ABCA4):c.3191-2A>G rs61752415
NM_000350.2(ABCA4):c.3205_3206dupAA (p.Leu1070Serfs) rs61750063
NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs) rs61750064
NM_000350.2(ABCA4):c.3212C>T (p.Ser1071Leu) rs61750065
NM_000350.2(ABCA4):c.3216T>C (p.Val1072=) rs61750066
NM_000350.2(ABCA4):c.324dupT (p.Gln110Serfs) rs61748531
NM_000350.2(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398
NM_000350.2(ABCA4):c.3261A>C (p.Glu1087Asp) rs61752416
NM_000350.2(ABCA4):c.3272G>A (p.Gly1091Glu) rs61752417
NM_000350.2(ABCA4):c.3278A>G (p.Asp1093Gly) rs61752418
NM_000350.2(ABCA4):c.3291A>G (p.Arg1097=) rs61750118
NM_000350.2(ABCA4):c.3295T>C (p.Ser1099Pro) rs61750119
NM_000350.2(ABCA4):c.32T>C (p.Leu11Pro) rs62645946
NM_000350.2(ABCA4):c.3303G>A (p.Trp1101Ter) rs61752419
NM_000350.2(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120
NM_000350.2(ABCA4):c.3323G>A (p.Arg1108His) rs61750121
NM_000350.2(ABCA4):c.3323G>T (p.Arg1108Leu) rs61750121
NM_000350.2(ABCA4):c.3329-34A>G rs11810336
NM_000350.2(ABCA4):c.3335C>A (p.Thr1112Asn) rs61750122
NM_000350.2(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399
NM_000350.2(ABCA4):c.3366G>C (p.Glu1122Asp) rs61750123
NM_000350.2(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269
NM_000350.2(ABCA4):c.3392delC (p.Ile1132Serfs) rs61750124
NM_000350.2(ABCA4):c.3438delC (p.Leu1147Terfs) rs61752420
NM_000350.2(ABCA4):c.3523-12C>T rs61754037
NM_000350.2(ABCA4):c.3523-28T>C rs55896821
NM_000350.2(ABCA4):c.3527_3528insTGCA (p.Cys1177Alafs) rs62645954
NM_000350.2(ABCA4):c.3531C>A (p.Cys1177Ter) rs61750125
NM_000350.2(ABCA4):c.3595C>T (p.Gln1199Ter) rs137853898
NM_000350.2(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.2(ABCA4):c.3607+1G>A rs61752421
NM_000350.2(ABCA4):c.3607+32G>A rs281865390
NM_000350.2(ABCA4):c.3608-16T>A rs61754039
NM_000350.2(ABCA4):c.3610G>A (p.Asp1204Asn) rs61750127
NM_000350.2(ABCA4):c.3696T>G (p.Leu1232=) rs61754040
NM_000350.2(ABCA4):c.3703A>G (p.Asn1235Asp) rs61752422
NM_000350.2(ABCA4):c.3749T>C (p.Leu1250Pro) rs61750128
NM_000350.2(ABCA4):c.3754G>T (p.Glu1252Ter) rs61752423
NM_000350.2(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424
NM_000350.2(ABCA4):c.3808G>T (p.Glu1270Ter) rs61752425
NM_000350.2(ABCA4):c.3819dupT (p.Leu1274Serfs) rs281865514
NM_000350.2(ABCA4):c.3840_3845delTGATTC (p.Asp1281_Ser1282del) rs62642572
NM_000350.2(ABCA4):c.3862+1G>A rs61751400
NM_000350.2(ABCA4):c.3874C>T (p.Gln1292Ter) rs61752426
NM_000350.2(ABCA4):c.3898C>T (p.Arg1300Ter) rs61752427
NM_000350.2(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.2(ABCA4):c.38_46delAGAACTGGA (p.Lys13_Trp15del) rs62645956
NM_000350.2(ABCA4):c.3940C>A (p.Pro1314Thr) rs61754041
NM_000350.2(ABCA4):c.3994C>T (p.Gln1332Ter) rs61752428
NM_000350.2(ABCA4):c.4035_4036dupCA (p.Gly1347Argfs) rs61751401
NM_000350.2(ABCA4):c.4073T>C (p.Leu1358Pro) rs61752429
NM_000350.2(ABCA4):c.4129-35A>T rs61754042
NM_000350.2(ABCA4):c.4129-71A>T rs61754043
NM_000350.2(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.2(ABCA4):c.4163T>C (p.Leu1388Pro) rs61750131
NM_000350.2(ABCA4):c.4169T>C (p.Leu1390Pro) rs61752430
NM_000350.2(ABCA4):c.4195G>A (p.Glu1399Lys) rs62642573
NM_000350.2(ABCA4):c.4200C>T (p.Tyr1400=) rs61750132
NM_000350.2(ABCA4):c.4203C>A (p.Pro1401=) rs1801666
NM_000350.2(ABCA4):c.4216C>T (p.His1406Tyr) rs61750133
NM_000350.2(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135
NM_000350.2(ABCA4):c.4223G>T (p.Trp1408Leu) rs61750134
NM_000350.2(ABCA4):c.4231_4232insTATG (p.Gly1411Valfs) rs61750136
NM_000350.2(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137
NM_000350.2(ABCA4):c.4253+1G>T rs61750139
NM_000350.2(ABCA4):c.4253+43G>A rs61754045
NM_000350.2(ABCA4):c.4253+4C>T rs61754044
NM_000350.2(ABCA4):c.4253+5G>T rs61750138
NM_000350.2(ABCA4):c.4254-2A>G rs61752431
NM_000350.2(ABCA4):c.4254-38G>A rs17110898
NM_000350.2(ABCA4):c.4254-47T>C rs56142328
NM_000350.2(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549
NM_000350.2(ABCA4):c.4286T>C (p.Val1429Ala) rs61752432
NM_000350.2(ABCA4):c.428C>T (p.Pro143Leu) rs62646860
NM_000350.2(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060
NM_000350.2(ABCA4):c.4316G>A (p.Gly1439Asp) rs61750140
NM_000350.2(ABCA4):c.4318T>G (p.Phe1440Val) rs61752433
NM_000350.2(ABCA4):c.4319T>C (p.Phe1440Ser) rs61750141
NM_000350.2(ABCA4):c.4328G>A (p.Arg1443His) rs61750142
NM_000350.2(ABCA4):c.4346G>A (p.Trp1449Ter) rs61750143
NM_000350.2(ABCA4):c.4352+13G>A rs61754048
NM_000350.2(ABCA4):c.4353-1G>T rs61750144
NM_000350.2(ABCA4):c.4436G>A (p.Trp1479Ter) rs61752434
NM_000350.2(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145
NM_000350.2(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146
NM_000350.2(ABCA4):c.4463G>A (p.Cys1488Tyr) rs61750147
NM_000350.2(ABCA4):c.4463G>T (p.Cys1488Phe) rs61750147
NM_000350.2(ABCA4):c.4468T>A (p.Cys1490Ser) rs61750148
NM_000350.2(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.2(ABCA4):c.4506C>A (p.Cys1502Ter) rs61750149
NM_000350.2(ABCA4):c.4506C>T (p.Cys1502=) rs61750149
NM_000350.2(ABCA4):c.4535C>G (p.Pro1512Arg) rs61750150
NM_000350.2(ABCA4):c.4537dupC (p.Gln1513Profs) rs281865377
NM_000350.2(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402
NM_000350.2(ABCA4):c.4539+1G>T rs61751388
NM_000350.2(ABCA4):c.4539+21delG rs61754052
NM_000350.2(ABCA4):c.4539+35G>C rs61754049
NM_000350.2(ABCA4):c.4539+3A>G rs61754051
NM_000350.2(ABCA4):c.4539+40C>T rs61754050
NM_000350.2(ABCA4):c.4540-2A>G rs61752435
NM_000350.2(ABCA4):c.4549C>A (p.Arg1517Ser) rs1800550
NM_000350.2(ABCA4):c.454C>T (p.Arg152Ter) rs62646861
NM_000350.2(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.2(ABCA4):c.4574T>C (p.Leu1525Pro) rs61750151
NM_000350.2(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152
NM_000350.2(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574
NM_000350.2(ABCA4):c.45G>A (p.Trp15Ter) rs62645957
NM_000350.2(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575
NM_000350.2(ABCA4):c.4667+2T>C rs61752436
NM_000350.2(ABCA4):c.4668-15C>T rs61754054
NM_000350.2(ABCA4):c.4668-38C>T rs61754053
NM_000350.2(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.2(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.2(ABCA4):c.4707delC (p.Ile1571Serfs) rs281865381
NM_000350.2(ABCA4):c.4714A>T (p.Thr1572Ser) rs62641255
NM_000350.2(ABCA4):c.4732G>A (p.Gly1578Arg) rs1800551
NM_000350.2(ABCA4):c.4746C>T (p.Asp1582=) rs61754055
NM_000350.2(ABCA4):c.4748T>C (p.Leu1583Pro) rs61750153
NM_000350.2(ABCA4):c.4773+1G>T rs61751376
NM_000350.2(ABCA4):c.4773+2T>C rs61752437
NM_000350.2(ABCA4):c.4773+48C>T rs472908
NM_000350.2(ABCA4):c.4774-2A>C rs61750154
NM_000350.2(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155
NM_000350.2(ABCA4):c.481G>A (p.Glu161Lys) rs62645943
NM_000350.2(ABCA4):c.4838delA (p.Asp1613Alafs) rs61752438
NM_000350.2(ABCA4):c.4849-1G>C rs61750156
NM_000350.2(ABCA4):c.4854G>A (p.Trp1618Ter) rs61752439
NM_000350.2(ABCA4):c.4867G>A (p.Gly1623Ser) rs61750157
NM_000350.2(ABCA4):c.4875T>A (p.His1625Gln) rs61752440
NM_000350.2(ABCA4):c.4892T>C (p.Leu1631Pro) rs61750158
NM_000350.2(ABCA4):c.4909G>A (p.Ala1637Thr) rs61754056
NM_000350.2(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.2(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.2(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017
NM_000350.2(ABCA4):c.4947del (p.Glu1650Argfs) rs61750159
NM_000350.2(ABCA4):c.4954T>G (p.Tyr1652Asp) rs61750560
NM_000350.2(ABCA4):c.4956T>G (p.Tyr1652Ter) rs61750561
NM_000350.2(ABCA4):c.4999C>A (p.Gln1667Lys) rs61753018
NM_000350.2(ABCA4):c.5018+2T>A rs61750562
NM_000350.2(ABCA4):c.5018+2T>C rs61750562
NM_000350.2(ABCA4):c.5019-32G>A rs113014755
NM_000350.2(ABCA4):c.5041_5055delGTGGTTGCCATCTGC (p.Val1682_Val1686del) rs62646872
NM_000350.2(ABCA4):c.5056G>A (p.Val1686Met) rs61753019
NM_000350.2(ABCA4):c.5065T>C (p.Ser1689Pro) rs61753020
NM_000350.2(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563
NM_000350.2(ABCA4):c.5087G>A (p.Ser1696Asn) rs61750564
NM_000350.2(ABCA4):c.5107C>G (p.Gln1703Glu) rs61750565
NM_000350.2(ABCA4):c.5114G>T (p.Arg1705Leu) rs61753021
NM_000350.2(ABCA4):c.514G>A (p.Gly172Ser) rs61748532
NM_000350.2(ABCA4):c.5161_5162delAC (p.Thr1721Hisfs) rs61750566
NM_000350.2(ABCA4):c.5186T>C (p.Leu1729Pro) rs61750567
NM_000350.2(ABCA4):c.5196+1G>A rs61751377
NM_000350.2(ABCA4):c.5196+1_5196+4del rs61753023
NM_000350.2(ABCA4):c.5196+1_5196+6del rs61753024
NM_000350.2(ABCA4):c.5196+20G>A rs55715124
NM_000350.2(ABCA4):c.5196+2T>C rs61751405
NM_000350.2(ABCA4):c.5196+2T>G rs61751405
NM_000350.2(ABCA4):c.5206T>C (p.Ser1736Pro) rs61750568
NM_000350.2(ABCA4):c.5212_5222delAGTGCTGGGCT (p.Ser1738Glyfs) rs281865403
NM_000350.2(ABCA4):c.5222_5232delTGGTGGTGGGC (p.Leu1741Hisfs) rs61750569
NM_000350.2(ABCA4):c.5223_5233delGGTGGTGGGCA (p.Val1742Leufs) rs61750570
NM_000350.2(ABCA4):c.5242G>A (p.Gly1748Arg) rs61753025
NM_000350.2(ABCA4):c.5248C>T (p.Gln1750Ter) rs61753026
NM_000350.2(ABCA4):c.5281_5289delCCTGCCCTT (p.Pro1761_Leu1763del) rs61753027
NM_000350.2(ABCA4):c.5288T>C (p.Leu1763Pro) rs61753028
NM_000350.2(ABCA4):c.52C>T (p.Arg18Trp) rs121909205
NM_000350.2(ABCA4):c.5312+45G>T rs61754059
NM_000350.2(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571
NM_000350.2(ABCA4):c.5327_5328delCCinsTG (p.Pro1776Leu) rs281865404
NM_000350.2(ABCA4):c.5337C>A (p.Tyr1779Ter) rs61750573
NM_000350.2(ABCA4):c.5337C>G (p.Tyr1779Ter) rs61750573
NM_000350.2(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406
NM_000350.2(ABCA4):c.5395A>G (p.Asn1799Asp) rs61750574
NM_000350.2(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029
NM_000350.2(ABCA4):c.5459G>C (p.Arg1820Pro) rs62646875
NM_000350.2(ABCA4):c.5460+1G>A rs61753030
NM_000350.2(ABCA4):c.5461-10T>C rs1800728
NM_000350.2(ABCA4):c.5461-38delT rs61754661
NM_000350.2(ABCA4):c.5461-50_5461-49insA rs281865393
NM_000350.2(ABCA4):c.5461-51_5461-50insG rs281865391
NM_000350.2(ABCA4):c.5461-52delG rs281865392
NM_000350.2(ABCA4):c.5512C>G (p.His1838Asp) rs62642562
NM_000350.2(ABCA4):c.5512C>T (p.His1838Tyr) rs62642562
NM_000350.2(ABCA4):c.5527C>T (p.Arg1843Trp) rs62642576
NM_000350.2(ABCA4):c.5537T>C (p.Ile1846Thr) rs61750575
NM_000350.2(ABCA4):c.5584+5G>A rs61750576
NM_000350.2(ABCA4):c.5584+6T>C rs61750633
NM_000350.2(ABCA4):c.5585-10T>C rs61753031
NM_000350.2(ABCA4):c.5585-17T>A rs61754664
NM_000350.2(ABCA4):c.5585-1G>A rs61750634
NM_000350.2(ABCA4):c.5585-70C>T rs537831
NM_000350.2(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.2(ABCA4):c.5644A>G (p.Met1882Val) rs62642577
NM_000350.2(ABCA4):c.5651T>A (p.Val1884Glu) rs62642578
NM_000350.2(ABCA4):c.5653G>A (p.Glu1885Lys) rs62642563
NM_000350.2(ABCA4):c.5657G>A (p.Gly1886Glu) rs62642579
NM_000350.2(ABCA4):c.5668_5670delTTC (p.Phe1890del) rs61750635
NM_000350.2(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.2(ABCA4):c.5687T>A (p.Val1896Asp) rs61750636
NM_000350.2(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.2(ABCA4):c.570G>C (p.Gln190His) rs281865397
NM_000350.2(ABCA4):c.571-1G>T rs61748533
NM_000350.2(ABCA4):c.571-29G>T rs61753052
NM_000350.2(ABCA4):c.571-2A>G rs61748534
NM_000350.2(ABCA4):c.5714+5G>A rs61751407
NM_000350.2(ABCA4):c.5715-25A>C rs4147856
NM_000350.2(ABCA4):c.574G>A (p.Ala192Thr) rs61748535
NM_000350.2(ABCA4):c.5761G>A (p.Val1921Met) rs61753032
NM_000350.2(ABCA4):c.5814A>G (p.Leu1938=) rs4147857
NM_000350.2(ABCA4):c.5819T>C (p.Leu1940Pro) rs61753033
NM_000350.2(ABCA4):c.5836-11G>A rs1800739
NM_000350.2(ABCA4):c.5836-16_5836-15insT rs281865395
NM_000350.2(ABCA4):c.5836-2delA rs61750637
NM_000350.2(ABCA4):c.5836-37_5836-36insTC rs281865396
NM_000350.2(ABCA4):c.5836-40C>A rs281865394
NM_000350.2(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141
NM_000350.2(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.2(ABCA4):c.5868C>T (p.Asp1956=) rs62642567
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.2(ABCA4):c.5886T>C (p.Val1962=) rs62642568
NM_000350.2(ABCA4):c.5888delG (p.Arg1963Profs) rs62642059
NM_000350.2(ABCA4):c.5898+1G>T rs61750638
NM_000350.2(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.2(ABCA4):c.5912T>G (p.Leu1971Arg) rs61753034
NM_000350.2(ABCA4):c.5914G>A (p.Gly1972Arg) rs61753035
NM_000350.2(ABCA4):c.5917delG (p.Val1973Terfs) rs61751389
NM_000350.2(ABCA4):c.5923G>C (p.Gly1975Arg) rs61753036
NM_000350.2(ABCA4):c.5929G>A (p.Gly1977Ser) rs61750639
NM_000350.2(ABCA4):c.5936C>T (p.Thr1979Ile) rs61753037
NM_000350.2(ABCA4):c.5951_5952delTGinsCA (p.Met1984Thr) rs61748516
NM_000350.2(ABCA4):c.5961_5964delGGAC (p.Asp1988Profs) rs61750640
NM_000350.2(ABCA4):c.6005+1G>T rs61748517
NM_000350.2(ABCA4):c.6006-16G>A rs4147863
NM_000350.2(ABCA4):c.6006-698delC rs4147902
NM_000350.2(ABCA4):c.6069T>C (p.Ile2023=) rs1762114
NM_000350.2(ABCA4):c.6076C>T (p.Leu2026=) rs61748518
NM_000350.2(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408
NM_000350.2(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383
NM_000350.2(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.2(ABCA4):c.6104T>C (p.Leu2035Pro) rs61750642
NM_000350.2(ABCA4):c.6112C>T (p.Arg2038Trp) rs61750643
NM_000350.2(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038
NM_000350.2(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.2(ABCA4):c.6166A>T (p.Lys2056Ter) rs61750644
NM_000350.2(ABCA4):c.6179T>G (p.Leu2060Arg) rs61753039
NM_000350.2(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.2(ABCA4):c.6190G>C (p.Ala2064Pro) rs61753040
NM_000350.2(ABCA4):c.6213C>T (p.Tyr2071=) rs62642580
NM_000350.2(ABCA4):c.6229C>G (p.Arg2077Gly) rs61750645
NM_000350.2(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.2(ABCA4):c.6238_6239delTC (p.Ser2080Hisfs) rs281865382
NM_000350.2(ABCA4):c.6249C>T (p.Ile2083=) rs1801359
NM_000350.2(ABCA4):c.6255C>T (p.Leu2085=) rs61748519
NM_000350.2(ABCA4):c.6276G>A (p.Val2092=) rs61753042
NM_000350.2(ABCA4):c.6282+7G>A rs17110761
NM_000350.2(ABCA4):c.6285T>C (p.Asp2095=) rs1801555
NM_000350.2(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646
NM_000350.2(ABCA4):c.6300delG (p.Met2101Trpfs) rs61750647
NM_000350.2(ABCA4):c.6316C>T (p.Arg2106Cys) rs61750648
NM_000350.2(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.2(ABCA4):c.6320G>C (p.Arg2107Pro) rs62642564
NM_000350.2(ABCA4):c.6329G>A (p.Trp2110Ter) rs62642565
NM_000350.2(ABCA4):c.6339C>G (p.Ile2113Met) rs61750649
NM_000350.2(ABCA4):c.6342G>A (p.Val2114=) rs61748520
NM_000350.2(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000350.2(ABCA4):c.6352delA (p.Arg2118Glufs) rs61750650
NM_000350.2(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.2(ABCA4):c.6383A>G (p.His2128Arg) rs61750651
NM_000350.2(ABCA4):c.6386+2C>G rs61753043
NM_000350.2(ABCA4):c.6391G>A (p.Glu2131Lys) rs61750652
NM_000350.2(ABCA4):c.6415C>T (p.Arg2139Trp) rs61750653
NM_000350.2(ABCA4):c.6437G>A (p.Gly2146Asp) rs61753044
NM_000350.2(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654
NM_000350.2(ABCA4):c.6446G>T (p.Arg2149Leu) rs61750655
NM_000350.2(ABCA4):c.6448T>C (p.Cys2150Arg) rs61750656
NM_000350.2(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384
NM_000350.2(ABCA4):c.6479A>G (p.Lys2160Arg) rs281865405
NM_000350.2(ABCA4):c.6498C>G (p.Ile2166Met) rs61751379
NM_000350.2(ABCA4):c.6519_6529delCCCGAAGGACG (p.Lys2175Alafs) rs63749079
NM_000350.2(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.2(ABCA4):c.6543_6578del36 (p.Leu2182_Phe2193del) rs63749058
NM_000350.2(ABCA4):c.6563T>C (p.Phe2188Ser) rs61750658
NM_000350.2(ABCA4):c.6568delC (p.Gln2190Argfs) rs61751381
NM_000350.2(ABCA4):c.656G>C (p.Arg219Thr) rs61748537
NM_000350.2(ABCA4):c.658C>T (p.Arg220Cys) rs61748538
NM_000350.2(ABCA4):c.6601_6602delAG (p.Arg2201Alafs) rs61751409
NM_000350.2(ABCA4):c.6609C>A (p.Tyr2203Ter) rs61753045
NM_000350.2(ABCA4):c.664delG (p.Ala222Glnfs) rs61748539
NM_000350.2(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.2(ABCA4):c.666_676delAAAGACGGTGC (p.Lys223Leufs) rs63749056
NM_000350.2(ABCA4):c.666_678delAAAGACGGTGCGC (p.Lys223Metfs) rs63749055
NM_000350.2(ABCA4):c.667_678delAAGACGGTGCGC (p.Lys223_Arg226del) rs63749081
NM_000350.2(ABCA4):c.667_680delAAGACGGTGCGCTA (p.Lys223Cysfs) rs63749082
NM_000350.2(ABCA4):c.6686T>C (p.Leu2229Pro) rs61750659
NM_000350.2(ABCA4):c.6693C>T (p.Ile2231=) rs1801626
NM_000350.2(ABCA4):c.6707_6714delTCACACAG (p.Val2236Aspfs) rs62646877
NM_000350.2(ABCA4):c.6708_6709insG (p.Thr2237Aspfs) rs61751260
NM_000350.2(ABCA4):c.6709_6710insA (p.Thr2237Asnfs) rs281865383
NM_000350.2(ABCA4):c.671delC (p.Thr224Argfs) rs61751417
NM_000350.2(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521
NM_000350.2(ABCA4):c.6729+1G>A rs61751261
NM_000350.2(ABCA4):c.6729+21C>T rs1800699
NM_000350.2(ABCA4):c.6730-27C>G rs61748522
NM_000350.2(ABCA4):c.6730-3T>C rs1800717
NM_000350.2(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.2(ABCA4):c.6748delA (p.Lys2250Asnfs) rs281865406
NM_000350.2(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
NM_000350.2(ABCA4):c.6788G>T (p.Arg2263Leu) rs281865407
NM_000350.2(ABCA4):c.6813C>T (p.Ala2271=) rs281865384
NM_000350.2(ABCA4):c.70C>T (p.Arg24Cys) rs62645942
NM_000350.2(ABCA4):c.71G>A (p.Arg24His) rs62645958
NM_000350.2(ABCA4):c.730_731delCT (p.Leu244Valfs) rs62645949
NM_000350.2(ABCA4):c.731T>C (p.Leu244Pro) rs62646864
NM_000350.2(ABCA4):c.740A>G (p.Asn247Ser) rs62645950
NM_000350.2(ABCA4):c.740A>T (p.Asn247Ile) rs62645950
NM_000350.2(ABCA4):c.746A>G (p.Asp249Gly) rs62646865
NM_000350.2(ABCA4):c.763C>G (p.Arg255Gly) rs62645952
NM_000350.2(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000350.2(ABCA4):c.769-1G>T rs61748542
NM_000350.2(ABCA4):c.769-32T>C rs526016
NM_000350.2(ABCA4):c.769-5T>G rs61750201
NM_000350.2(ABCA4):c.832delT (p.Ser278Leufs) rs61748543
NM_000350.2(ABCA4):c.859-11C>T rs61753053
NM_000350.2(ABCA4):c.873G>A (p.Pro291=) rs61753054
NM_000350.2(ABCA4):c.899C>A (p.Thr300Asn) rs61748544
NM_000350.2(ABCA4):c.926C>G (p.Pro309Arg) rs61748545
NM_000350.2(ABCA4):c.928G>C (p.Glu310Gln) rs61753055
NM_000350.2(ABCA4):c.933C>T (p.Thr311=) rs61753056
NM_000350.2(ABCA4):c.981C>T (p.Pro327=) rs61753057
NM_000350.2(ABCA4):c.982G>T (p.Glu328Ter) rs61751418
NM_000350.2(ABCA4):c.983A>T (p.Glu328Val) rs61751419
NM_000350.2(ABCA4):c.989G>A (p.Gly330Asp) rs61753058
NM_000350.2(ABCA4):c.997C>T (p.Arg333Trp) rs61748546

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