ClinVar Miner

List of variants in gene ABCA4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 975
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HGVS dbSNP
NC_000001.11:g.94063090C>A
NM_000350.2(ABCA4):c.1356+10dupG rs281865386
NM_000350.2(ABCA4):c.1356+14dupG rs886046567
NM_000350.2(ABCA4):c.1356+5delG rs281865386
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.303-71delA rs4147877
NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs) rs61750064
NM_000350.2(ABCA4):c.4539+21delG rs61754052
NM_000350.2(ABCA4):c.4774-17_4774-16delGT rs55860151
NM_000350.2(ABCA4):c.5461-38delT rs61754661
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.2(ABCA4):c.6006-698delC rs4147902
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
NM_000350.2(ABCA4):c.[1A>G;6089G>A]
NM_000350.2(ABCA4):c.[2588G>C;3289A>T]
NM_000350.2(ABCA4):c.[2588G>C;5153T>G]
NM_000350.2(ABCA4):c.[2588G>C];[5882G>A]
NM_000350.2(ABCA4):c.[302+68C>T;4539+2028C>T]
NM_000350.2(ABCA4):c.[5381C>A;6148G>C]
NM_000350.2(ABCA4):c.[5512C>G;5882G>A]
NM_000350.2:c.(6816+1_6817-1)_(*1_?)del
NM_000350.2:c.+10C>A
NM_000350.3(ABCA4):c.*134G>A rs76201551
NM_000350.3(ABCA4):c.*136G>A rs55665437
NM_000350.3(ABCA4):c.*147C>T rs773349580
NM_000350.3(ABCA4):c.*26C>A rs200946608
NM_000350.3(ABCA4):c.*299G>C rs538804441
NM_000350.3(ABCA4):c.*372A>G rs3747961
NM_000350.3(ABCA4):c.*55G>T rs201160433
NM_000350.3(ABCA4):c.-92C>T rs200102393
NM_000350.3(ABCA4):c.1002G>C (p.Val334=) rs751548532
NM_000350.3(ABCA4):c.1003C>T (p.Leu335Phe) rs1057520668
NM_000350.3(ABCA4):c.1007C>G (p.Ser336Cys) rs61748547
NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu) rs886044724
NM_000350.3(ABCA4):c.1013A>G (p.Asn338Ser) rs1057522235
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.1018T>G (p.Tyr340Asp) rs61748548
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs) rs63749083
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148
NM_000350.3(ABCA4):c.1036A>T (p.Lys346Ter) rs61751422
NM_000350.3(ABCA4):c.1037A>C (p.Lys346Thr) rs61752389
NM_000350.3(ABCA4):c.1066A>T (p.Lys356Ter) rs61751391
NM_000350.3(ABCA4):c.1082C>A (p.Ser361Tyr) rs748487419
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter) rs61752390
NM_000350.3(ABCA4):c.1086T>G (p.Tyr362Ter) rs61752390
NM_000350.3(ABCA4):c.108del (p.Leu37fs) rs62642569
NM_000350.3(ABCA4):c.1100-14T>C rs61753059
NM_000350.3(ABCA4):c.1100-2A>T rs886042034
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=) rs376624031
NM_000350.3(ABCA4):c.1220C>T (p.Ala407Val) rs61751264
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550
NM_000350.3(ABCA4):c.1225del (p.Arg409fs) rs387906387
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter) rs61751410
NM_000350.3(ABCA4):c.1239+1G>C rs765707028
NM_000350.3(ABCA4):c.123G>A (p.Trp41Ter) rs748357067
NM_000350.3(ABCA4):c.1240-14C>T rs4147830
NM_000350.3(ABCA4):c.1240-8G>A
NM_000350.3(ABCA4):c.1240-8G>C rs185225547
NM_000350.3(ABCA4):c.1241C>A (p.Ala414Asp) rs1553193893
NM_000350.3(ABCA4):c.1248A>C (p.Ser416=) rs61753960
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) rs794726979
NM_000350.3(ABCA4):c.1267C>T (p.His423Tyr) rs138044729
NM_000350.3(ABCA4):c.1268A>C (p.His423Pro) rs3112831
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.3(ABCA4):c.1272T>C (p.Val424=) rs61748551
NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter) rs886044725
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452
NM_000350.3(ABCA4):c.1317G>A (p.Trp439Ter) rs61752391
NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys) rs770439859
NM_000350.3(ABCA4):c.1325T>C (p.Phe442Ser) rs61752392
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg) rs61748552
NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter) rs886039882
NM_000350.3(ABCA4):c.1341del (p.Gln447_Met448insTer) rs61748553
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys) rs777078540
NM_000350.3(ABCA4):c.1344del (p.Met448fs) rs61748554
NM_000350.3(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.3(ABCA4):c.1356+6G>C rs281865387
NM_000350.3(ABCA4):c.1356+6_1356+7insC rs886046568
NM_000350.3(ABCA4):c.1357-110C>A
NM_000350.3(ABCA4):c.1357-2A>G rs886044726
NM_000350.3(ABCA4):c.1390_1391del (p.Leu464fs) rs61748555
NM_000350.3(ABCA4):c.1410A>C (p.Glu470Asp) rs886044578
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548
NM_000350.3(ABCA4):c.141= (p.Pro47=) rs4847281
NM_000350.3(ABCA4):c.141A>G (p.Pro47=) rs4847281
NM_000350.3(ABCA4):c.1492G>A (p.Asp498Asn) rs750836609
NM_000350.3(ABCA4):c.1493A>G (p.Asp498Gly) rs147135304
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=) rs139050119
NM_000350.3(ABCA4):c.1506_1514del (p.Phe503_Ile505del) rs62645953
NM_000350.3(ABCA4):c.1510A>C (p.Asn504His) rs1243753206
NM_000350.3(ABCA4):c.1513_1517del (p.Asn504_Ile505insTer) rs281865398
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885
NM_000350.3(ABCA4):c.1528del (p.Leu510fs) rs62646867
NM_000350.3(ABCA4):c.1529T>C (p.Leu510Pro) rs886039299
NM_000350.3(ABCA4):c.1529T>G (p.Leu510Arg)
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys) rs752786160
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.3(ABCA4):c.1554+1G>A rs61752393
NM_000350.3(ABCA4):c.1555-1G>A rs61752394
NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter) rs1553192726
NM_000350.3(ABCA4):c.1569T>G (p.Asp523Glu) rs62646868
NM_000350.3(ABCA4):c.1575T>G (p.Phe525Leu) rs62646869
NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter) rs886044727
NM_000350.3(ABCA4):c.160+1G>A rs61748523
NM_000350.3(ABCA4):c.160+212G>T
NM_000350.3(ABCA4):c.160+2T>C rs886044721
NM_000350.3(ABCA4):c.160+5G>C rs1064793004
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly) rs886044720
NM_000350.3(ABCA4):c.161-45G>T rs61753048
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424
NM_000350.3(ABCA4):c.1615_1616CT[3] (p.Leu541fs) rs1553192715
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447
NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe) rs150774447
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1623A>G (p.Leu541=) rs61753962
NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs) rs793888523
NM_000350.3(ABCA4):c.1645G>A (p.Ala549Thr) rs61748557
NM_000350.3(ABCA4):c.1645G>C (p.Ala549Pro) rs61748557
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.3(ABCA4):c.1659C>G (p.Phe553Leu) rs61752396
NM_000350.3(ABCA4):c.1676G>A (p.Trp559Ter)
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) rs143263315
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) rs74516571
NM_000350.3(ABCA4):c.1714C>T (p.Arg572Ter) rs1557787756
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559
NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro) rs61748559
NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile) rs886044728
NM_000350.3(ABCA4):c.174C>G (p.Asn58Lys) rs61748524
NM_000350.3(ABCA4):c.1757A>G (p.Asp586Gly) rs1553192682
NM_000350.3(ABCA4):c.1760+22G>T rs61754020
NM_000350.3(ABCA4):c.1760+2T>G rs61751385
NM_000350.3(ABCA4):c.1761-37G>A rs61754021
NM_000350.3(ABCA4):c.1761-50G>A rs61754022
NM_000350.3(ABCA4):c.1761-54G>A rs4147833
NM_000350.3(ABCA4):c.1765del (p.Trp589fs) rs1557787559
NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser) rs61751393
NM_000350.3(ABCA4):c.178G>A (p.Ala60Thr) rs61751411
NM_000350.3(ABCA4):c.1793T>G (p.Val598Gly) rs886044729
NM_000350.3(ABCA4):c.1798G>T (p.Asp600Tyr) rs61752397
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His) rs1064793006
NM_000350.3(ABCA4):c.180G>C (p.Ala60=) rs756647171
NM_000350.3(ABCA4):c.1811T>G (p.Ile604Ser) rs61749411
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412
NM_000350.3(ABCA4):c.1819G>C (p.Gly607Arg) rs61749412
NM_000350.3(ABCA4):c.1819G>T (p.Gly607Trp) rs61749412
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398
NM_000350.3(ABCA4):c.1822T>C (p.Phe608Leu) rs61752398
NM_000350.3(ABCA4):c.1823T>A (p.Phe608Tyr) rs61752399
NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter) rs1057517700
NM_000350.3(ABCA4):c.1848del (p.Glu616fs) rs61751386
NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu) rs61751394
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu) rs1057520211
NM_000350.3(ABCA4):c.1873C>T (p.Gln625Ter) rs878853396
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=) rs61754023
NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg) rs886044730
NM_000350.3(ABCA4):c.1894del (p.Ile632fs) rs61749413
NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys) rs61749414
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter) rs145961131
NM_000350.3(ABCA4):c.1908G>T (p.Gln636His) rs61752400
NM_000350.3(ABCA4):c.1917C>A (p.Tyr639Ter) rs61749415
NM_000350.3(ABCA4):c.1917C>T (p.Tyr639=) rs61749415
NM_000350.3(ABCA4):c.1918C>G (p.Pro640Ala) rs766570903
NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu) rs760790294
NM_000350.3(ABCA4):c.1922G>C (p.Cys641Ser) rs61749416
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594
NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn) rs61749418
NM_000350.3(ABCA4):c.1937+15C>T rs774567553
NM_000350.3(ABCA4):c.1937+1G>A rs61752401
NM_000350.3(ABCA4):c.1937+2T>C rs61749419
NM_000350.3(ABCA4):c.1938-1G>A rs61751263
NM_000350.3(ABCA4):c.1938-227G>A
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420
NM_000350.3(ABCA4):c.1958G>A (p.Arg653His) rs141823837
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)
NM_000350.3(ABCA4):c.1962T>C (p.Cys654=)
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438
NM_000350.3(ABCA4):c.1984dup (p.Ala662fs) rs1553192432
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter) rs865990202
NM_000350.3(ABCA4):c.1989G>A (p.Trp663Ter) rs61749421
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs) rs61749422
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437
NM_000350.3(ABCA4):c.2036A>T (p.Glu679Val) rs1553192420
NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg) rs62654397
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.2057T>C (p.Leu686Ser) rs61752402
NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter) rs886044722
NM_000350.3(ABCA4):c.2090G>A (p.Trp697Ter) rs61749424
NM_000350.3(ABCA4):c.2096C>A (p.Thr699Asn) rs1057519142
NM_000350.3(ABCA4):c.2099G>A (p.Trp700Ter) rs61749425
NM_000350.3(ABCA4):c.2127G>A (p.Ser709=) rs61754025
NM_000350.3(ABCA4):c.2147C>T (p.Thr716Met) rs61749426
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg) rs61751412
NM_000350.3(ABCA4):c.2160+1G>C rs61749427
NM_000350.3(ABCA4):c.2160+1G>T rs61749427
NM_000350.3(ABCA4):c.2160+470T>C
NM_000350.3(ABCA4):c.2160+49T>C rs56197337
NM_000350.3(ABCA4):c.2182A>G (p.Ser728Gly) rs1064793007
NM_000350.3(ABCA4):c.2184C>A (p.Ser728Arg) rs776910485
NM_000350.3(ABCA4):c.2236A>G (p.Met746Val) rs1293462383
NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly) rs61748526
NM_000350.3(ABCA4):c.2249T>C (p.Leu750Pro) rs1064793008
NM_000350.3(ABCA4):c.2278C>G (p.Leu760Val) rs886046566
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr) rs61749428
NM_000350.3(ABCA4):c.2292del (p.Ala763_Cys764insTer) rs61752403
NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn) rs61749429
NM_000350.3(ABCA4):c.2295T>G (p.Ser765Arg) rs61752404
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp) rs61751395
NM_000350.3(ABCA4):c.230T>A (p.Val77Glu) rs61748527
NM_000350.3(ABCA4):c.2337C>A (p.Cys779Ter) rs61749430
NM_000350.3(ABCA4):c.2345G>A (p.Trp782Ter) rs911580078
NM_000350.3(ABCA4):c.234C>T (p.Asn78=) rs61753049
NM_000350.3(ABCA4):c.2353C>G (p.Arg785Gly) rs781254854
NM_000350.3(ABCA4):c.2353C>T (p.Arg785Cys) rs781254854
NM_000350.3(ABCA4):c.2383-10C>G rs61754026
NM_000350.3(ABCA4):c.2385_2400del (p.Ser795fs) rs281865399
NM_000350.3(ABCA4):c.2390T>C (p.Leu797Pro) rs61749432
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829
NM_000350.3(ABCA4):c.2408del (p.Gly803fs)
NM_000350.3(ABCA4):c.2409_2410del (p.Phe804fs) rs61752405
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu) rs61750202
NM_000350.3(ABCA4):c.2461T>A (p.Trp821Arg) rs61749433
NM_000350.3(ABCA4):c.2461T>C (p.Trp821Arg) rs61749433
NM_000350.3(ABCA4):c.2472C>T (p.Ile824=) rs61749434
NM_000350.3(ABCA4):c.247_250del (p.Gln83fs) rs61748528
NM_000350.3(ABCA4):c.249_250insCAAA (p.Ser84fs) rs61751390
NM_000350.3(ABCA4):c.2517C>T (p.Ser839=) rs138246242
NM_000350.3(ABCA4):c.2536G>C (p.Asp846His) rs61754027
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val) rs779466403
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435
NM_000350.3(ABCA4):c.2552G>A (p.Gly851Asp) rs61749436
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437
NM_000350.3(ABCA4):c.2564G>A (p.Trp855Ter) rs61752406
NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter) rs61749438
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.3(ABCA4):c.2571del (p.Asp858fs) rs61752407
NM_000350.3(ABCA4):c.2585C>T (p.Pro862Leu) rs61751382
NM_000350.3(ABCA4):c.2587+1G>A rs61749439
NM_000350.3(ABCA4):c.2587+2T>C rs1557783989
NM_000350.3(ABCA4):c.2588-12C>G rs61751396
NM_000350.3(ABCA4):c.2608C>T (p.Pro870Ser) rs867875828
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu) rs746566873
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter)
NM_000350.3(ABCA4):c.2616_2617del (p.Phe873fs) rs62642560
NM_000350.3(ABCA4):c.2617T>C (p.Phe873Leu) rs62642570
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875
NM_000350.3(ABCA4):c.2653+239T>C
NM_000350.3(ABCA4):c.2653+60G>C rs61754028
NM_000350.3(ABCA4):c.2654-21A>T rs61754029
NM_000350.3(ABCA4):c.2654-36C>T rs145368920
NM_000350.3(ABCA4):c.2654-48G>C rs12069723
NM_000350.3(ABCA4):c.2680dup (p.Leu894fs)
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.3(ABCA4):c.2692G>A (p.Glu898Lys) rs61749441
NM_000350.3(ABCA4):c.2692G>T (p.Glu898Ter) rs61749441
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030
NM_000350.3(ABCA4):c.2703A>G (p.Thr901=) rs61749442
NM_000350.3(ABCA4):c.2703A>T (p.Thr901=) rs61749442
NM_000350.3(ABCA4):c.2713del (p.Glu905fs) rs869312184
NM_000350.3(ABCA4):c.2742C>T (p.His914=) rs1362746093
NM_000350.3(ABCA4):c.2744-244G>A
NM_000350.3(ABCA4):c.2744-38del rs281865389
NM_000350.3(ABCA4):c.2744-5C>T rs76305791
NM_000350.3(ABCA4):c.2772G>A (p.Gly924=) rs371907790
NM_000350.3(ABCA4):c.2782G>T (p.Gly928Trp) rs398123337
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.3(ABCA4):c.2798A>T (p.Asn933Ile) rs527236129
NM_000350.3(ABCA4):c.2804T>C (p.Val935Ala) rs61749444
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser) rs149071415
NM_000350.3(ABCA4):c.2815G>T (p.Glu939Ter) rs786205447
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg) rs144995371
NM_000350.3(ABCA4):c.2820C>G (p.Pro940=) rs61749445
NM_000350.3(ABCA4):c.2827C>G (p.Arg943Gly) rs61749446
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp) rs61749446
NM_000350.3(ABCA4):c.2827del (p.Arg943fs) rs281865513
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.2860T>G (p.Tyr954Asp) rs61749447
NM_000350.3(ABCA4):c.2863G>A (p.Glu955Lys) rs765680067
NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys) rs398123338
NM_000350.3(ABCA4):c.286A>C (p.Asn96His) rs61748529
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000350.3(ABCA4):c.2870A>G (p.Gln957Arg) rs61749448
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.2876C>T (p.Thr959Ile) rs61752409
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) rs61754033
NM_000350.3(ABCA4):c.287del (p.Asn96fs) rs1553196583
NM_000350.3(ABCA4):c.2884del (p.Leu962fs) rs61750203
NM_000350.3(ABCA4):c.2888del (p.Gly963fs) rs61752410
NM_000350.3(ABCA4):c.288C>A (p.Asn96Lys) rs886039297
NM_000350.3(ABCA4):c.2893A>G (p.Asn965Asp) rs61749449
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607
NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys)
NM_000350.3(ABCA4):c.2902G>A (p.Gly968Arg) rs794727220
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn) rs61749450
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.3(ABCA4):c.2918+1060G>T rs763003887
NM_000350.3(ABCA4):c.2919-10T>C rs886044733
NM_000350.3(ABCA4):c.2920T>C (p.Ser974Pro) rs281865400
NM_000350.3(ABCA4):c.2927del (p.Leu976fs) rs863223338
NM_000350.3(ABCA4):c.2932G>T (p.Gly978Cys) rs61749452
NM_000350.3(ABCA4):c.2933G>A (p.Gly978Asp) rs61749453
NM_000350.3(ABCA4):c.2940G>C (p.Leu980Phe) rs886044734
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.294C>G (p.Asn98Lys) rs145133167
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=) rs61754034
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454
NM_000350.3(ABCA4):c.296dup (p.Asn99fs) rs62645948
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
NM_000350.3(ABCA4):c.2971G>T (p.Gly991Ter) rs61749455
NM_000350.3(ABCA4):c.2977_2984del (p.Asp993fs) rs281865401
NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro) rs61748530
NM_000350.3(ABCA4):c.2992C>T (p.Leu998=) rs62642566
NM_000350.3(ABCA4):c.302+1G>A rs61751413
NM_000350.3(ABCA4):c.302+20C>T rs61753050
NM_000350.3(ABCA4):c.302+26A>G rs2297634
NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg) rs61749456
NM_000350.3(ABCA4):c.3050+5G>A rs61751262
NM_000350.3(ABCA4):c.3051-14T>A rs17110922
NM_000350.3(ABCA4):c.3051-16T>A rs1064793009
NM_000350.3(ABCA4):c.3051-195C>A
NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala) rs61749457
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) rs201855602
NM_000350.3(ABCA4):c.3057G>T (p.Thr1019=) rs61749458
NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=) rs886046565
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459
NM_000350.3(ABCA4):c.3081T>G (p.Tyr1027Ter) rs1553190664
NM_000350.3(ABCA4):c.3083C>T (p.Ala1028Val) rs121909204
NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter) rs61751397
NM_000350.3(ABCA4):c.3091A>G (p.Lys1031Glu) rs61750060
NM_000350.3(ABCA4):c.3093del (p.Gly1032fs) rs886044735
NM_000350.3(ABCA4):c.3098del (p.Lys1033fs) rs878853397
NM_000350.3(ABCA4):c.3103C>G (p.Gln1035Glu) rs779067729
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys) rs61750061
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.3139del (p.Glu1047fs) rs886042904
NM_000350.3(ABCA4):c.3149G>A (p.Gly1050Asp) rs61750062
NM_000350.3(ABCA4):c.3163C>T (p.Arg1055Trp) rs61752412
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919
NM_000350.3(ABCA4):c.3187T>C (p.Ser1063Pro) rs61752413
NM_000350.3(ABCA4):c.3190+101G>A
NM_000350.3(ABCA4):c.3190+1G>T rs61752414
NM_000350.3(ABCA4):c.3190+83A>T rs61754035
NM_000350.3(ABCA4):c.3191-20C>T rs61754036
NM_000350.3(ABCA4):c.3191-2A>G rs61752415
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp) rs886039300
NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter) rs765429911
NM_000350.3(ABCA4):c.3205_3206dup (p.Leu1070fs) rs61750063
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg) rs775661924
NM_000350.3(ABCA4):c.3210G>A (p.Leu1070=) rs113398504
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) rs61750065
NM_000350.3(ABCA4):c.3213G>A (p.Ser1071=) rs141233353
NM_000350.3(ABCA4):c.3216T>C (p.Val1072=) rs61750066
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398
NM_000350.3(ABCA4):c.3259G>T (p.Glu1087Ter) rs61751398
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp) rs61752416
NM_000350.3(ABCA4):c.3262C>T (p.Pro1088Ser) rs1553190579
NM_000350.3(ABCA4):c.3264C>T (p.Pro1088=) rs140876019
NM_000350.3(ABCA4):c.3268T>C (p.Ser1090Pro) rs1131691351
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu) rs61752417
NM_000350.3(ABCA4):c.3278A>G (p.Asp1093Gly) rs61752418
NM_000350.3(ABCA4):c.327dup (p.Gln110fs) rs61748531
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701
NM_000350.3(ABCA4):c.3291A>G (p.Arg1097=) rs61750118
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) rs756840095
NM_000350.3(ABCA4):c.3295T>C (p.Ser1099Pro) rs61750119
NM_000350.3(ABCA4):c.3297A>C (p.Ser1099=) rs148917659
NM_000350.3(ABCA4):c.3299T>A (p.Ile1100Asn) rs1553190559
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) rs62645946
NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter) rs61752419
NM_000350.3(ABCA4):c.3305A>C (p.Asp1102Ala) rs143689372
NM_000350.3(ABCA4):c.331G>C (p.Glu111Gln) rs766512063
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120
NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His) rs61750121
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu) rs61750121
NM_000350.3(ABCA4):c.3329-34A>G rs11810336
NM_000350.3(ABCA4):c.3335C>A (p.Thr1112Asn) rs61750122
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399
NM_000350.3(ABCA4):c.3366G>C (p.Glu1122Asp) rs61750123
NM_000350.3(ABCA4):c.3377T>C (p.Leu1126Pro) rs1047376
NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu)
NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys) rs779426136
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269
NM_000350.3(ABCA4):c.3389T>C (p.Ile1130Thr) rs1064793010
NM_000350.3(ABCA4):c.3393del (p.Ile1132fs) rs61750124
NM_000350.3(ABCA4):c.339C>T (p.Leu113=) rs1553196340
NM_000350.3(ABCA4):c.3403C>T (p.Gln1135Ter) rs1057517701
NM_000350.3(ABCA4):c.3439del (p.Phe1146_Leu1147insTer) rs61752420
NM_000350.3(ABCA4):c.3468C>T (p.Tyr1156=)
NM_000350.3(ABCA4):c.3481C>T (p.Arg1161Cys) rs553776104
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935
NM_000350.3(ABCA4):c.3522+6T>C
NM_000350.3(ABCA4):c.3523-12C>T rs61754037
NM_000350.3(ABCA4):c.3523-28T>C rs55896821
NM_000350.3(ABCA4):c.3523-9C>G rs374302531
NM_000350.3(ABCA4):c.3527_3528insTGCA (p.Cys1177fs) rs62645954
NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs) rs886044736
NM_000350.3(ABCA4):c.3531C>A (p.Cys1177Ter) rs61750125
NM_000350.3(ABCA4):c.3539C>T (p.Ser1180Leu)
NM_000350.3(ABCA4):c.3540_3555del (p.Ser1181fs) rs387906388
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys) rs75267647
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=) rs187965758
NM_000350.3(ABCA4):c.3582C>A (p.Asp1194Glu) rs886038285
NM_000350.3(ABCA4):c.3586A>T (p.Thr1196Ser) rs370967816
NM_000350.3(ABCA4):c.3595C>T (p.Gln1199Ter) rs137853898
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.3(ABCA4):c.3607+13C>T rs374630957
NM_000350.3(ABCA4):c.3607+1G>A rs61752421
NM_000350.3(ABCA4):c.3607+32G>A rs281865390
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg) rs1064793011
NM_000350.3(ABCA4):c.3608-16T>A rs61754039
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552
NM_000350.3(ABCA4):c.3610G>A (p.Asp1204Asn) rs61750127
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939
NM_000350.3(ABCA4):c.3670T>G (p.Cys1224Gly) rs762213896
NM_000350.3(ABCA4):c.3682G>T (p.Glu1228Ter) rs1057517869
NM_000350.3(ABCA4):c.3696T>G (p.Leu1232=) rs61754040
NM_000350.3(ABCA4):c.3701C>T (p.Pro1234Leu) rs1383231039
NM_000350.3(ABCA4):c.3703A>G (p.Asn1235Asp) rs61752422
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) rs138359497
NM_000350.3(ABCA4):c.3749T>C (p.Leu1250Pro) rs61750128
NM_000350.3(ABCA4):c.3754G>T (p.Glu1252Ter) rs61752423
NM_000350.3(ABCA4):c.3755A>T (p.Glu1252Val) rs377098736
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766
NM_000350.3(ABCA4):c.3767_3768dup (p.Leu1257fs)
NM_000350.3(ABCA4):c.37A>G (p.Lys13Glu) rs1131691262
NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter) rs61752425
NM_000350.3(ABCA4):c.3813+7T>C rs769882474
NM_000350.3(ABCA4):c.3813G>A (p.Glu1271=) rs886044737
NM_000350.3(ABCA4):c.3815T>C (p.Ile1272Thr) rs886044738
NM_000350.3(ABCA4):c.3819dup (p.Leu1274fs) rs281865514
NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=) rs75092434
NM_000350.3(ABCA4):c.3840_3845del (p.1279_1280DS[1]) rs62642572
NM_000350.3(ABCA4):c.3862+1G>A rs61751400
NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter) rs746541266
NM_000350.3(ABCA4):c.3874C>T (p.Gln1292Ter) rs61752426
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter) rs61752427
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.3(ABCA4):c.38_46del (p.Lys13_Trp15del) rs62645956
NM_000350.3(ABCA4):c.3900A>G (p.Arg1300=) rs886044739
NM_000350.3(ABCA4):c.3940C>A (p.Pro1314Thr) rs61754041
NM_000350.3(ABCA4):c.3947A>C (p.Asp1316Ala) rs746468013
NM_000350.3(ABCA4):c.3977C>G (p.Ala1326Gly) rs761989194
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter) rs61752428
NM_000350.3(ABCA4):c.3G>T (p.Met1Ile) rs886041554
NM_000350.3(ABCA4):c.4034_4035AC[3] (p.Gly1347fs) rs61751401
NM_000350.3(ABCA4):c.4038G>A (p.Thr1346=)
NM_000350.3(ABCA4):c.4049T>C (p.Leu1350Pro) rs1064793012
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=) rs141004967
NM_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr)
NM_000350.3(ABCA4):c.4070C>A (p.Ala1357Glu) rs552517556
NM_000350.3(ABCA4):c.4073T>C (p.Leu1358Pro) rs61752429
NM_000350.3(ABCA4):c.4124C>T (p.Ala1375Val) rs1267585230
NM_000350.3(ABCA4):c.4128+156C>T
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=) rs1064797113
NM_000350.3(ABCA4):c.4128G>C (p.Gln1376His) rs1064797113
NM_000350.3(ABCA4):c.4129-16G>A rs762600499
NM_000350.3(ABCA4):c.4129-1G>A rs1553189507
NM_000350.3(ABCA4):c.4129-278G>T
NM_000350.3(ABCA4):c.4129-35A>T rs61754042
NM_000350.3(ABCA4):c.4129-71A>T rs61754043
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=) rs139109485
NM_000350.3(ABCA4):c.4163T>C (p.Leu1388Pro) rs61750131
NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro) rs61752430
NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=) rs763857670
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys) rs62642573
NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter) rs62642573
NM_000350.3(ABCA4):c.4200C>T (p.Tyr1400=) rs61750132
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.4216C>T (p.His1406Tyr) rs61750133
NM_000350.3(ABCA4):c.4220C>T (p.Pro1407Leu) rs1064797091
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135
NM_000350.3(ABCA4):c.4222del (p.Trp1408fs)
NM_000350.3(ABCA4):c.4223G>T (p.Trp1408Leu) rs61750134
NM_000350.3(ABCA4):c.4228_4231dup (p.Gly1411fs) rs61750136
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137
NM_000350.3(ABCA4):c.4243A>C (p.Thr1415Pro)
NM_000350.3(ABCA4):c.424C>T (p.His142Tyr) rs1085307835
NM_000350.3(ABCA4):c.4253+13G>A rs145766145
NM_000350.3(ABCA4):c.4253+1G>T rs61750139
NM_000350.3(ABCA4):c.4253+43G>A rs61754045
NM_000350.3(ABCA4):c.4253+4C>T rs61754044
NM_000350.3(ABCA4):c.4253+5G>A rs61750138
NM_000350.3(ABCA4):c.4253+5G>T rs61750138
NM_000350.3(ABCA4):c.4254-171C>T
NM_000350.3(ABCA4):c.4254-1G>C rs886044740
NM_000350.3(ABCA4):c.4254-2A>G rs61752431
NM_000350.3(ABCA4):c.4254-38G>A rs17110898
NM_000350.3(ABCA4):c.4254-47T>C rs56142328
NM_000350.3(ABCA4):c.4254-5T>G rs886044551
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) rs142673376
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549
NM_000350.3(ABCA4):c.4286T>C (p.Val1429Ala) rs61752432
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu) rs62646860
NM_000350.3(ABCA4):c.4296C>T (p.Asp1432=) rs368147821
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060
NM_000350.3(ABCA4):c.4316G>A (p.Gly1439Asp) rs61750140
NM_000350.3(ABCA4):c.4318T>G (p.Phe1440Val) rs61752433
NM_000350.3(ABCA4):c.4319T>C (p.Phe1440Ser) rs61750141
NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys) rs762150575
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142
NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg) rs142506651
NM_000350.3(ABCA4):c.4346G>A (p.Trp1449Ter) rs61750143
NM_000350.3(ABCA4):c.4347G>T (p.Trp1449Cys) rs886044741
NM_000350.3(ABCA4):c.4352+13G>A rs61754048
NM_000350.3(ABCA4):c.4352+14C>T rs75359153
NM_000350.3(ABCA4):c.4352+168A>G
NM_000350.3(ABCA4):c.4352+1G>A rs200967229
NM_000350.3(ABCA4):c.4353-1G>T rs61750144
NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter) rs886044742
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368
NM_000350.3(ABCA4):c.4401C>T (p.Ser1467=) rs188775667
NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=) rs750526487
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met) rs142732109
NM_000350.3(ABCA4):c.4429C>T (p.Gln1477Ter) rs794727531
NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter) rs61752434
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr) rs61750147
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe) rs61750147
NM_000350.3(ABCA4):c.4468T>A (p.Cys1490Ser) rs61750148
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402
NM_000350.3(ABCA4):c.4506C>A (p.Cys1502Ter) rs61750149
NM_000350.3(ABCA4):c.4506C>T (p.Cys1502=) rs61750149
NM_000350.3(ABCA4):c.4510G>A (p.Glu1504Lys) rs190370456
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg) rs568792949
NM_000350.3(ABCA4):c.4529C>T (p.Pro1510Leu) rs756106154
NM_000350.3(ABCA4):c.4532C>A (p.Pro1511His) rs886046564
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu) rs886046564
NM_000350.3(ABCA4):c.4535C>G (p.Pro1512Arg) rs61750150
NM_000350.3(ABCA4):c.4537del (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402
NM_000350.3(ABCA4):c.4539+1702A>G
NM_000350.3(ABCA4):c.4539+1G>T rs61751388
NM_000350.3(ABCA4):c.4539+2001G>A rs1457937638
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785
NM_000350.3(ABCA4):c.4539+2029C>G
NM_000350.3(ABCA4):c.4539+2064C>T rs1553189179
NM_000350.3(ABCA4):c.4539+2066C>G
NM_000350.3(ABCA4):c.4539+35G>C rs61754049
NM_000350.3(ABCA4):c.4539+3A>G rs61754051
NM_000350.3(ABCA4):c.4539+40C>T rs61754050
NM_000350.3(ABCA4):c.4540-2036C>A rs886044743
NM_000350.3(ABCA4):c.4540-2095G>C
NM_000350.3(ABCA4):c.4540-2169A>G
NM_000350.3(ABCA4):c.4540-2A>G rs61752435
NM_000350.3(ABCA4):c.4549C>A (p.Arg1517Ser) rs1800550
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter) rs1553188916
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=) rs774957381
NM_000350.3(ABCA4):c.4574T>C (p.Leu1525Pro) rs61750151
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=) rs138831474
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser) rs1557770154
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter) rs62645957
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.4621del (p.Leu1541_Ile1542insTer) rs1557770132
NM_000350.3(ABCA4):c.4635C>T (p.Ser1545=) rs886044744
NM_000350.3(ABCA4):c.4637T>G (p.Leu1546Ter) rs1131691612
NM_000350.3(ABCA4):c.4640del (p.Lys1547fs) rs886044745
NM_000350.3(ABCA4):c.4667+2T>C rs61752436
NM_000350.3(ABCA4):c.4668-15C>T rs61754054
NM_000350.3(ABCA4):c.4668-38C>T rs61754053
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.3(ABCA4):c.4679T>A (p.Ile1560Asn)
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.3(ABCA4):c.468C>T (p.Ile156=) rs148091207
NM_000350.3(ABCA4):c.4696C>T (p.Leu1566Phe)
NM_000350.3(ABCA4):c.4710del (p.Ile1571fs) rs281865381
NM_000350.3(ABCA4):c.4714A>T (p.Thr1572Ser) rs62641255
NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met) rs185093512
NM_000350.3(ABCA4):c.4727T>G (p.Leu1576Arg) rs1553188682
NM_000350.3(ABCA4):c.4730T>C (p.Val1577Ala) rs771574413
NM_000350.3(ABCA4):c.4732G>A (p.Gly1578Arg) rs1800551
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser) rs777415466
NM_000350.3(ABCA4):c.4746C>T (p.Asp1582=) rs61754055
NM_000350.3(ABCA4):c.4748T>C (p.Leu1583Pro) rs61750153
NM_000350.3(ABCA4):c.4749T>A (p.Leu1583=) rs754531924
NM_000350.3(ABCA4):c.4753C>T (p.Arg1585Trp) rs745512565
NM_000350.3(ABCA4):c.4754G>A (p.Arg1585Gln) rs754298400
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.3(ABCA4):c.4772G>A (p.Gly1591Glu) rs1472640519
NM_000350.3(ABCA4):c.4773+1G>T rs61751376
NM_000350.3(ABCA4):c.4773+2T>C rs61752437
NM_000350.3(ABCA4):c.4773+3A>G rs759672616
NM_000350.3(ABCA4):c.4773+48C>T rs472908
NM_000350.3(ABCA4):c.4774-27T>C rs373662165
NM_000350.3(ABCA4):c.4774-2A>C rs61750154
NM_000350.3(ABCA4):c.478G>T (p.Glu160Ter) rs1064793005
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) rs61750155
NM_000350.3(ABCA4):c.481G>A (p.Glu161Lys) rs62645943
NM_000350.3(ABCA4):c.4838del (p.Asp1613fs) rs61752438
NM_000350.3(ABCA4):c.4842C>G (p.Asn1614Lys)
NM_000350.3(ABCA4):c.4848+13T>C rs374196141
NM_000350.3(ABCA4):c.4849-1G>C rs61750156
NM_000350.3(ABCA4):c.4852T>A (p.Trp1618Arg) rs786205446
NM_000350.3(ABCA4):c.4854G>A (p.Trp1618Ter) rs61752439
NM_000350.3(ABCA4):c.4867G>A (p.Gly1623Ser) rs61750157
NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr) rs1085307968
NM_000350.3(ABCA4):c.4875T>A (p.His1625Gln) rs61752440
NM_000350.3(ABCA4):c.4892T>C (p.Leu1631Pro) rs61750158
NM_000350.3(ABCA4):c.4900G>T (p.Ala1634Ser) rs1553188613
NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr) rs61754056
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln) rs61751403
NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile) rs114518437
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017
NM_000350.3(ABCA4):c.4945C>T (p.Pro1649Ser) rs886046563
NM_000350.3(ABCA4):c.4947del (p.Glu1650fs) rs61750159
NM_000350.3(ABCA4):c.4954T>G (p.Tyr1652Asp) rs61750560
NM_000350.3(ABCA4):c.4956T>G (p.Tyr1652Ter) rs61750561
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu) rs886044746
NM_000350.3(ABCA4):c.4999C>A (p.Gln1667Lys) rs61753018
NM_000350.3(ABCA4):c.5018+2T>A rs61750562
NM_000350.3(ABCA4):c.5018+2T>C rs61750562
NM_000350.3(ABCA4):c.5018+5G>A rs1553188588
NM_000350.3(ABCA4):c.5018+8A>G rs188800817
NM_000350.3(ABCA4):c.5019-176T>C
NM_000350.3(ABCA4):c.5019-32G>A rs113014755
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) rs62646872
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro) rs61753020
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn) rs61750564
NM_000350.3(ABCA4):c.5088C>G (p.Ser1696Arg) rs1435203678
NM_000350.3(ABCA4):c.5107C>G (p.Gln1703Glu) rs61750565
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310
NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu) rs61753021
NM_000350.3(ABCA4):c.5121C>A (p.Asn1707Lys) rs886046562
NM_000350.3(ABCA4):c.5128A>C (p.Lys1710Gln) rs778747291
NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys) rs374343397
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532
NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs) rs61750566
NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter) rs1557767754
NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs) rs1057518955
NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro) rs61750567
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter) rs886044747
NM_000350.3(ABCA4):c.5196+1013A>G rs886044748
NM_000350.3(ABCA4):c.5196+1056A>G rs886044749
NM_000350.3(ABCA4):c.5196+1136C>A rs114147805
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759
NM_000350.3(ABCA4):c.5196+1159G>A rs80110715
NM_000350.3(ABCA4):c.5196+1G>A rs61751377
NM_000350.3(ABCA4):c.5196+20G>A rs55715124
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.5196+2T>G rs61751405
NM_000350.3(ABCA4):c.5196+3_5196+6del rs61753023
NM_000350.3(ABCA4):c.5196+3_5196+8del rs61753024
NM_000350.3(ABCA4):c.5197-186T>C
NM_000350.3(ABCA4):c.5197-4C>T rs758825834
NM_000350.3(ABCA4):c.5206T>C (p.Ser1736Pro) rs61750568
NM_000350.3(ABCA4):c.5212_5222del (p.Ser1738fs) rs281865403
NM_000350.3(ABCA4):c.5219G>A (p.Gly1740Glu) rs794727593
NM_000350.3(ABCA4):c.5222_5232del (p.Leu1741fs) rs61750569
NM_000350.3(ABCA4):c.5223_5233del (p.Val1742fs) rs61750570
NM_000350.3(ABCA4):c.5242G>A (p.Gly1748Arg) rs61753025
NM_000350.3(ABCA4):c.5248C>T (p.Gln1750Ter) rs61753026
NM_000350.3(ABCA4):c.5281_5289del (p.Pro1761_Leu1763del) rs61753027
NM_000350.3(ABCA4):c.5282C>G (p.Pro1761Arg) rs1057520212
NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp) rs121909206
NM_000350.3(ABCA4):c.5288T>C (p.Leu1763Pro) rs61753028
NM_000350.3(ABCA4):c.5289del (p.Val1764fs) rs1553188071
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205
NM_000350.3(ABCA4):c.5312+1G>A rs886044750
NM_000350.3(ABCA4):c.5312+3A>T rs767451031
NM_000350.3(ABCA4):c.5312+45G>T rs61754059
NM_000350.3(ABCA4):c.5312+8G>A rs187953772
NM_000350.3(ABCA4):c.5313-193A>G
NM_000350.3(ABCA4):c.5313-283T>G
NM_000350.3(ABCA4):c.5315G>A (p.Trp1772Ter) rs776757706
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861
NM_000350.3(ABCA4):c.5327C>T (p.Pro1776Leu) rs1553187939
NM_000350.3(ABCA4):c.5327_5328delinsTG (p.Pro1776Leu) rs281865404
NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys) rs748706582
NM_000350.3(ABCA4):c.5337C>A (p.Tyr1779Ter) rs61750573
NM_000350.3(ABCA4):c.5337C>G (p.Tyr1779Ter) rs61750573
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207
NM_000350.3(ABCA4):c.5363C>T (p.Pro1788Leu) rs886044751
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406
NM_000350.3(ABCA4):c.5389_5390TG[1] (p.Cys1797_Ala1798insTer) rs786205445
NM_000350.3(ABCA4):c.5395A>G (p.Asn1799Asp) rs61750574
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=) rs202199507
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029
NM_000350.3(ABCA4):c.5459G>C (p.Arg1820Pro) rs62646875
NM_000350.3(ABCA4):c.5460+1G>A rs61753030
NM_000350.3(ABCA4):c.5460+6C>T rs886046561
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5461-291A>C
NM_000350.3(ABCA4):c.5461-50_5461-49insA rs281865393
NM_000350.3(ABCA4):c.5461-50dup rs281865391
NM_000350.3(ABCA4):c.5461-52del rs281865392
NM_000350.3(ABCA4):c.5463G>A (p.Thr1821=) rs367857935
NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=) rs762632312
NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn) rs62642562
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp) rs62642562
NM_000350.3(ABCA4):c.5512C>T (p.His1838Tyr) rs62642562
NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg) rs886044752
NM_000350.3(ABCA4):c.5516T>C (p.Phe1839Ser) rs1297857869
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp) rs62642576
NM_000350.3(ABCA4):c.5528_5533del (p.Arg1843_Gly1844del)
NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr) rs61750575
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) rs377311148
NM_000350.3(ABCA4):c.5558C>A (p.Ala1853Asp) rs886044753
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu) rs374687000
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn) rs371489809
NM_000350.3(ABCA4):c.5584+5G>A rs61750576
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.5585-10T>C rs61753031
NM_000350.3(ABCA4):c.5585-17T>A rs61754664
NM_000350.3(ABCA4):c.5585-1G>A rs61750634
NM_000350.3(ABCA4):c.5585-70C>T rs537831
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5606C>T (p.Pro1869Leu) rs376925793
NM_000350.3(ABCA4):c.5610C>A (p.Phe1870Leu) rs886046560
NM_000350.3(ABCA4):c.5644A>G (p.Met1882Val) rs62642577
NM_000350.3(ABCA4):c.5646G>A (p.Met1882Ile) rs752160946
NM_000350.3(ABCA4):c.564del (p.Glu189fs) rs886044148
NM_000350.3(ABCA4):c.5651T>A (p.Val1884Glu) rs62642578
NM_000350.3(ABCA4):c.5653G>A (p.Glu1885Lys) rs62642563
NM_000350.3(ABCA4):c.5656G>A (p.Gly1886Arg) rs886044754
NM_000350.3(ABCA4):c.5657G>A (p.Gly1886Glu) rs62642579
NM_000350.3(ABCA4):c.5659G>A (p.Val1887Met) rs764320529
NM_000350.3(ABCA4):c.5668_5670del (p.Phe1890del) rs61750635
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.3(ABCA4):c.5687T>A (p.Val1896Asp) rs61750636
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.3(ABCA4):c.570+1888A>G
NM_000350.3(ABCA4):c.570+20C>T rs78637152
NM_000350.3(ABCA4):c.570G>C (p.Gln190His) rs281865397
NM_000350.3(ABCA4):c.571-1G>T rs61748533
NM_000350.3(ABCA4):c.571-29G>T rs61753052
NM_000350.3(ABCA4):c.571-2A>G rs61748534
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=) rs191506332
NM_000350.3(ABCA4):c.5714+4C>T rs376586802
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.5714+5G>T rs61751407
NM_000350.3(ABCA4):c.5715-25A>C rs4147856
NM_000350.3(ABCA4):c.574G>A (p.Ala192Thr) rs61748535
NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met) rs61753032
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) rs61753033
NM_000350.3(ABCA4):c.5828T>C (p.Leu1943Pro) rs886044755
NM_000350.3(ABCA4):c.5836-11G>A rs1800739
NM_000350.3(ABCA4):c.5836-167C>T
NM_000350.3(ABCA4):c.5836-18dup rs281865395
NM_000350.3(ABCA4):c.5836-2del rs61750637
NM_000350.3(ABCA4):c.5836-36TC[3] rs281865396
NM_000350.3(ABCA4):c.5836-3C>A rs1064793013
NM_000350.3(ABCA4):c.5836-40C>A rs281865394
NM_000350.3(ABCA4):c.5836-43C>A rs2275031
NM_000350.3(ABCA4):c.5836-7C>T rs886042784
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.3(ABCA4):c.5867_5870del (p.Asp1956fs) rs1553187228
NM_000350.3(ABCA4):c.5868C>T (p.Asp1956=) rs62642567
NM_000350.3(ABCA4):c.587C>T (p.Pro196Leu) rs769176363
NM_000350.3(ABCA4):c.5880C>T (p.Val1960=) rs746250336
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg) rs142253670
NM_000350.3(ABCA4):c.5886T>C (p.Val1962=) rs62642568
NM_000350.3(ABCA4):c.5888del (p.Arg1963fs) rs62642059
NM_000350.3(ABCA4):c.5898+1G>A rs61750638
NM_000350.3(ABCA4):c.5898+1G>T rs61750638
NM_000350.3(ABCA4):c.5898+20C>T rs761429989
NM_000350.3(ABCA4):c.5899-1G>T rs1553187160
NM_000350.3(ABCA4):c.5899-2del rs1553187162
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.3(ABCA4):c.5909T>C (p.Leu1970Pro) rs886044756
NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg) rs61753034
NM_000350.3(ABCA4):c.5914G>A (p.Gly1972Arg) rs61753035
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000350.3(ABCA4):c.5923G>C (p.Gly1975Arg) rs61753036
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) rs61750639
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu) rs1064793014
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile) rs61753037
NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg) rs752147871
NM_000350.3(ABCA4):c.5951_5952inv (p.Met1984Thr) rs61748516
NM_000350.3(ABCA4):c.5953C>T (p.Leu1985Phe) rs886046559
NM_000350.3(ABCA4):c.5955C>T (p.Leu1985=) rs201545948
NM_000350.3(ABCA4):c.5961_5964del (p.Asp1988fs) rs61750640
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val) rs145065936
NM_000350.3(ABCA4):c.5973G>C (p.Val1991=) rs886044757
NM_000350.3(ABCA4):c.6005+1G>T rs61748517
NM_000350.3(ABCA4):c.6006-16G>A rs4147863
NM_000350.3(ABCA4):c.6031C>T (p.His2011Tyr) rs1057523778
NM_000350.3(ABCA4):c.6040A>G (p.Met2014Val) rs201883531
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114
NM_000350.3(ABCA4):c.6076C>T (p.Leu2026=) rs61748518
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) rs886044758
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.3(ABCA4):c.6098T>C (p.Leu2033Pro) rs1553186896
NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg) rs1553186896
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro) rs61750642
NM_000350.3(ABCA4):c.6107A>G (p.Tyr2036Cys) rs878853398
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp) rs61750643
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln) rs767729255
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter) rs61750644
NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg) rs61753039
NM_000350.3(ABCA4):c.6184_6187del (p.Val2062fs) rs886042319
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.618C>T (p.Ser206=) rs61748536
NM_000350.3(ABCA4):c.6190G>C (p.Ala2064Pro) rs61753040
NM_000350.3(ABCA4):c.6193G>C (p.Asp2065His) rs886043588
NM_000350.3(ABCA4):c.6213C>T (p.Tyr2071=) rs62642580
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6218G>C (p.Gly2073Ala) rs752850266
NM_000350.3(ABCA4):c.6226A>G (p.Lys2076Glu) rs1553186509
NM_000350.3(ABCA4):c.6229C>G (p.Arg2077Gly) rs61750645
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6230G>A (p.Arg2077Gln) rs886044759
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln) rs951379922
NM_000350.3(ABCA4):c.6236_6237TC[1] (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519
NM_000350.3(ABCA4):c.6276G>A (p.Val2092=) rs61753042
NM_000350.3(ABCA4):c.6282+7G>A rs17110761
NM_000350.3(ABCA4):c.6283-3_6283-2delinsAG rs886044760
NM_000350.3(ABCA4):c.6284A>T (p.Asp2095Val) rs1064793015
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=) rs1801555
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646
NM_000350.3(ABCA4):c.6300del (p.Met2101fs) rs61750647
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) rs61750648
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His) rs1057520213
NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser) rs2297669
NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys)
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.6320G>C (p.Arg2107Pro) rs62642564
NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro) rs886044761
NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter) rs62642565
NM_000350.3(ABCA4):c.6339C>G (p.Ile2113Met) rs61750649
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met) rs202127235
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000350.3(ABCA4):c.6352del (p.Arg2118fs) rs61750650
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.3(ABCA4):c.6383A>G (p.His2128Arg) rs61750651
NM_000350.3(ABCA4):c.6386+1G>A
NM_000350.3(ABCA4):c.6386+2C>G rs61753043
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys) rs61750652
NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp) rs61750653
NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro) rs761867791
NM_000350.3(ABCA4):c.6426C>G (p.Ile2142Met) rs1184801813
NM_000350.3(ABCA4):c.6437G>A (p.Gly2146Asp) rs61753044
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654
NM_000350.3(ABCA4):c.6446G>T (p.Arg2149Leu) rs61750655
NM_000350.3(ABCA4):c.6448T>C (p.Cys2150Arg) rs61750656
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384
NM_000350.3(ABCA4):c.6453G>T (p.Met2151Ile) rs1057518954
NM_000350.3(ABCA4):c.6454G>T (p.Gly2152Cys)
NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu)
NM_000350.3(ABCA4):c.6479A>G (p.Lys2160Arg) rs281865405
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.6515A>G (p.Lys2172Arg) rs886044762
NM_000350.3(ABCA4):c.6519_6529del (p.Lys2175fs) rs63749079
NM_000350.3(ABCA4):c.6522G>A (p.Pro2174=) rs143909323
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.3(ABCA4):c.6545_6580del (p.Leu2182_Phe2193del) rs63749058
NM_000350.3(ABCA4):c.655A>T (p.Arg219Ter) rs757557272
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser) rs61750658
NM_000350.3(ABCA4):c.6568del (p.Gln2190fs) rs61751381
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr) rs61748537
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538
NM_000350.3(ABCA4):c.6599_6600AG[1] (p.Arg2201fs) rs61751409
NM_000350.3(ABCA4):c.66+234A>G
NM_000350.3(ABCA4):c.66+81A>G
NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter) rs61753045
NM_000350.3(ABCA4):c.6647C>T (p.Ala2216Val) rs886044763
NM_000350.3(ABCA4):c.664del (p.Ala222fs) rs61748539
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.3(ABCA4):c.666_676del (p.Lys223fs) rs63749056
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) rs63749055
NM_000350.3(ABCA4):c.667_678del (p.Lys223_Arg226del) rs63749081
NM_000350.3(ABCA4):c.667_680del (p.Lys223fs) rs63749082
NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro) rs61750659
NM_000350.3(ABCA4):c.6693C>T (p.Ile2231=) rs1801626
NM_000350.3(ABCA4):c.67-1G>C rs778908435
NM_000350.3(ABCA4):c.67-2A>G rs398123339
NM_000350.3(ABCA4):c.6707_6714del (p.Val2236fs) rs62646877
NM_000350.3(ABCA4):c.6708_6709insG (p.Thr2237fs) rs61751260
NM_000350.3(ABCA4):c.6709dup (p.Thr2237fs) rs281865383
NM_000350.3(ABCA4):c.6713A>G (p.Gln2238Arg) rs886044764
NM_000350.3(ABCA4):c.671del (p.Thr224fs) rs61751417
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521
NM_000350.3(ABCA4):c.6729+1G>A rs61751261
NM_000350.3(ABCA4):c.6729+21C>T rs1800699
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.6730-19G>A rs375179475
NM_000350.3(ABCA4):c.6730-27C>G rs61748522
NM_000350.3(ABCA4):c.6730-3T>C rs1800717
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.3(ABCA4):c.6750del (p.Lys2250fs) rs281865406
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
NM_000350.3(ABCA4):c.677G>T (p.Arg226Leu) rs144310835
NM_000350.3(ABCA4):c.6788G>T (p.Arg2263Leu) rs281865407
NM_000350.3(ABCA4):c.6813C>T (p.Ala2271=) rs281865384
NM_000350.3(ABCA4):c.6816+1G>A rs773599043
NM_000350.3(ABCA4):c.6816+28G>C rs6666559
NM_000350.3(ABCA4):c.6816+2T>A rs112005636
NM_000350.3(ABCA4):c.688T>A (p.Cys230Ser) rs1057518767
NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys) rs62645942
NM_000350.3(ABCA4):c.712C>T (p.Gln238Ter) rs1356104318
NM_000350.3(ABCA4):c.716G>A (p.Trp239Ter) rs755733328
NM_000350.3(ABCA4):c.719T>G (p.Ile240Arg) rs1553195472
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958
NM_000350.3(ABCA4):c.728_729CT[1] (p.Leu244fs) rs62645949
NM_000350.3(ABCA4):c.731T>C (p.Leu244Pro) rs62646864
NM_000350.3(ABCA4):c.740A>G (p.Asn247Ser) rs62645950
NM_000350.3(ABCA4):c.740A>T (p.Asn247Ile) rs62645950
NM_000350.3(ABCA4):c.741C>T (p.Asn247=) rs372976742
NM_000350.3(ABCA4):c.746A>G (p.Asp249Gly) rs62646865
NM_000350.3(ABCA4):c.763C>G (p.Arg255Gly) rs62645952
NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys) rs62645952
NM_000350.3(ABCA4):c.764G>A (p.Arg255His) rs148387660
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000350.3(ABCA4):c.769-157T>G
NM_000350.3(ABCA4):c.769-1G>T rs61748542
NM_000350.3(ABCA4):c.769-210G>A
NM_000350.3(ABCA4):c.769-32T>C rs526016
NM_000350.3(ABCA4):c.769-3C>T rs368010652
NM_000350.3(ABCA4):c.769-5T>G rs61750201
NM_000350.3(ABCA4):c.791G>A (p.Arg264His) rs567985213
NM_000350.3(ABCA4):c.832del (p.Ser278fs) rs61748543
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu) rs138682163
NM_000350.3(ABCA4):c.850_857del (p.Ile284fs) rs886042320
NM_000350.3(ABCA4):c.853C>T (p.Gln285Ter) rs886041951
NM_000350.3(ABCA4):c.859-11C>T rs61753053
NM_000350.3(ABCA4):c.86T>G (p.Leu29Arg) rs886044719
NM_000350.3(ABCA4):c.870G>A (p.Arg290=) rs794727902
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405
NM_000350.3(ABCA4):c.873G>A (p.Pro291=) rs61753054
NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter) rs794727903
NM_000350.3(ABCA4):c.885C>G (p.Asp295Glu) rs1553194068
NM_000350.3(ABCA4):c.885del (p.Leu296fs) rs764759172
NM_000350.3(ABCA4):c.88G>A (p.Val30Met) rs202127496
NM_000350.3(ABCA4):c.899C>A (p.Thr300Asn) rs61748544
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg) rs61748545
NM_000350.3(ABCA4):c.928G>C (p.Glu310Gln) rs61753055
NM_000350.3(ABCA4):c.933C>T (p.Thr311=) rs61753056
NM_000350.3(ABCA4):c.956T>G (p.Leu319Arg) rs886044723
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057
NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter) rs61751418
NM_000350.3(ABCA4):c.983A>T (p.Glu328Val) rs61751419
NM_000350.3(ABCA4):c.989G>A (p.Gly330Asp) rs61753058
NM_000350.3(ABCA4):c.997C>T (p.Arg333Trp) rs61748546
Single allele

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