ClinVar Miner

List of variants in gene ABCA4 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 602
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HGVS dbSNP
NC_000001.11:g.(?_94023386)_(94023418_?)del
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.3(ABCA4):c.*10C>A
NM_000350.3(ABCA4):c.*136G>A rs55665437
NM_000350.3(ABCA4):c.*147C>T rs773349580
NM_000350.3(ABCA4):c.*228A>T
NM_000350.3(ABCA4):c.*23C>T
NM_000350.3(ABCA4):c.*254C>A
NM_000350.3(ABCA4):c.*284T>C
NM_000350.3(ABCA4):c.*299G>C rs538804441
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.1029T>C (p.Asn343=) rs145483148
NM_000350.3(ABCA4):c.1033T>G (p.Tyr345Asp)
NM_000350.3(ABCA4):c.1034A>G (p.Tyr345Cys)
NM_000350.3(ABCA4):c.1037A>C (p.Lys346Thr) rs61752389
NM_000350.3(ABCA4):c.1082C>A (p.Ser361Tyr) rs748487419
NM_000350.3(ABCA4):c.1085A>G (p.Tyr362Cys)
NM_000350.3(ABCA4):c.1099+12G>T
NM_000350.3(ABCA4):c.1099+3A>C rs1570407965
NM_000350.3(ABCA4):c.1100-3C>T
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.1166C>T (p.Ala389Val)
NM_000350.3(ABCA4):c.118A>T (p.Ile40Phe)
NM_000350.3(ABCA4):c.1208A>T (p.Asp403Val)
NM_000350.3(ABCA4):c.1214C>G (p.Pro405Arg)
NM_000350.3(ABCA4):c.1232T>C (p.Leu411Pro)
NM_000350.3(ABCA4):c.1240-8G>A rs185225547
NM_000350.3(ABCA4):c.1240-8G>C rs185225547
NM_000350.3(ABCA4):c.1241C>A (p.Ala414Asp) rs1553193893
NM_000350.3(ABCA4):c.1251T>C (p.Thr417=)
NM_000350.3(ABCA4):c.1267C>T (p.His423Tyr) rs138044729
NM_000350.3(ABCA4):c.1267_1268inv (p.His423Cys)
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452
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.1343T>A (p.Met448Lys) rs777078540
NM_000350.3(ABCA4):c.1356+13dup rs886046567
NM_000350.3(ABCA4):c.1356+3dup
NM_000350.3(ABCA4):c.1356+5_1356+6insT
NM_000350.3(ABCA4):c.1356+6_1356+7insC rs886046568
NM_000350.3(ABCA4):c.1364T>A (p.Leu455Gln) rs1366296798
NM_000350.3(ABCA4):c.1405G>C (p.Gly469Arg)
NM_000350.3(ABCA4):c.1405G>T (p.Gly469Cys)
NM_000350.3(ABCA4):c.140C>T (p.Pro47Leu)
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.1459C>T (p.Arg487Trp)
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln)
NM_000350.3(ABCA4):c.1480A>G (p.Met494Val)
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.1500G>A (p.Arg500=) rs139050119
NM_000350.3(ABCA4):c.1510A>C (p.Asn504His) rs1243753206
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.3(ABCA4):c.1544A>G (p.Gln515Arg)
NM_000350.3(ABCA4):c.154C>G (p.His52Asp)
NM_000350.3(ABCA4):c.1552G>A (p.Glu518Lys)
NM_000350.3(ABCA4):c.1555-10CT[2] rs1280974868
NM_000350.3(ABCA4):c.156T>G (p.His52Gln)
NM_000350.3(ABCA4):c.1577A>C (p.Glu526Ala)
NM_000350.3(ABCA4):c.1586A>G (p.Asn529Ser)
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424
NM_000350.3(ABCA4):c.1615C>G (p.Leu539Val)
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1645G>A (p.Ala549Thr) rs61748557
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.1655T>C (p.Val552Ala)
NM_000350.3(ABCA4):c.166T>A (p.Phe56Ile)
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.1715G>A (p.Arg572Gln) rs61748559
NM_000350.3(ABCA4):c.1745A>G (p.Asn582Ser)
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn) rs145265791
NM_000350.3(ABCA4):c.1759A>G (p.Arg587Gly)
NM_000350.3(ABCA4):c.1761G>T (p.Arg587Ser)
NM_000350.3(ABCA4):c.1773T>A (p.Ser591=)
NM_000350.3(ABCA4):c.1792G>A (p.Val598Met)
NM_000350.3(ABCA4):c.1793T>G (p.Val598Gly) rs886044729
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.1819G>A (p.Gly607Arg) rs61749412
NM_000350.3(ABCA4):c.1821G>A (p.Gly607=)
NM_000350.3(ABCA4):c.183G>C (p.Met61Ile)
NM_000350.3(ABCA4):c.1850A>G (p.Gln617Arg)
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu) rs1057520211
NM_000350.3(ABCA4):c.1921T>C (p.Cys641Arg)
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.1937+15C>T rs774567553
NM_000350.3(ABCA4):c.1937+5G>A
NM_000350.3(ABCA4):c.193G>A (p.Gly65Arg)
NM_000350.3(ABCA4):c.1944G>T (p.Met648Ile)
NM_000350.3(ABCA4):c.1945A>T (p.Ile649Phe)
NM_000350.3(ABCA4):c.1977G>A (p.Met659Ile)
NM_000350.3(ABCA4):c.2020A>G (p.Ile674Val)
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437
NM_000350.3(ABCA4):c.2034G>T (p.Lys678Asn)
NM_000350.3(ABCA4):c.2036A>T (p.Glu679Val) rs1553192420
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397
NM_000350.3(ABCA4):c.2069G>A (p.Gly690Asp)
NM_000350.3(ABCA4):c.2079T>G (p.Asn693Lys)
NM_000350.3(ABCA4):c.2081C>T (p.Ala694Val)
NM_000350.3(ABCA4):c.2096C>A (p.Thr699Asn) rs1057519142
NM_000350.3(ABCA4):c.2106G>A (p.Leu702=)
NM_000350.3(ABCA4):c.2124G>T (p.Met708Ile)
NM_000350.3(ABCA4):c.2126C>T (p.Ser709Leu)
NM_000350.3(ABCA4):c.2161-6T>C
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.2243G>A (p.Cys748Tyr)
NM_000350.3(ABCA4):c.2252T>C (p.Leu751Pro)
NM_000350.3(ABCA4):c.2267C>T (p.Ser756Phe)
NM_000350.3(ABCA4):c.2278C>G (p.Leu760Val) rs886046566
NM_000350.3(ABCA4):c.2294_2295delinsAA (p.Ser765Lys)
NM_000350.3(ABCA4):c.2304C>G (p.Ile768Met)
NM_000350.3(ABCA4):c.2310C>G (p.Phe770Leu)
NM_000350.3(ABCA4):c.2311A>T (p.Thr771Ser)
NM_000350.3(ABCA4):c.2318A>G (p.Tyr773Cys)
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.2362G>A (p.Ala788Thr)
NM_000350.3(ABCA4):c.2383-12G>A
NM_000350.3(ABCA4):c.2396C>T (p.Pro799Leu)
NM_000350.3(ABCA4):c.239C>T (p.Pro80Leu)
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829
NM_000350.3(ABCA4):c.2407G>A (p.Gly803Arg)
NM_000350.3(ABCA4):c.2415C>T (p.Gly805=)
NM_000350.3(ABCA4):c.2431C>T (p.Arg811Cys)
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu) rs61750202
NM_000350.3(ABCA4):c.2473G>A (p.Gly825Arg)
NM_000350.3(ABCA4):c.2480G>C (p.Ser827Thr)
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met)
NM_000350.3(ABCA4):c.2487G>A (p.Thr829=) rs770089512
NM_000350.3(ABCA4):c.2495A>G (p.Asp832Gly)
NM_000350.3(ABCA4):c.2497G>A (p.Glu833Lys)
NM_000350.3(ABCA4):c.2517C>T (p.Ser839=) rs138246242
NM_000350.3(ABCA4):c.2529G>A (p.Met843Ile)
NM_000350.3(ABCA4):c.2531T>G (p.Leu844Arg)
NM_000350.3(ABCA4):c.2533C>G (p.Leu845Val)
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.3(ABCA4):c.2570T>C (p.Leu857Pro)
NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg)
NM_000350.3(ABCA4):c.2588-12C>G rs61751396
NM_000350.3(ABCA4):c.2608C>T (p.Pro870Ser) rs867875828
NM_000350.3(ABCA4):c.2617T>C (p.Phe873Leu) rs62642570
NM_000350.3(ABCA4):c.2654-6G>A
NM_000350.3(ABCA4):c.2654-8T>G
NM_000350.3(ABCA4):c.2673A>T (p.Glu891Asp)
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.2701A>G (p.Thr901Ala) rs61754030
NM_000350.3(ABCA4):c.2742C>T (p.His914=) rs1362746093
NM_000350.3(ABCA4):c.2743+11G>A
NM_000350.3(ABCA4):c.2743+12A>C
NM_000350.3(ABCA4):c.2744-5C>T rs76305791
NM_000350.3(ABCA4):c.2759G>A (p.Arg920His)
NM_000350.3(ABCA4):c.275G>A (p.Gly92Glu)
NM_000350.3(ABCA4):c.2772G>A (p.Gly924=) rs371907790
NM_000350.3(ABCA4):c.2772G>T (p.Gly924=)
NM_000350.3(ABCA4):c.2782G>T (p.Gly928Trp) rs398123337
NM_000350.3(ABCA4):c.2808G>C (p.Lys936Asn)
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser) rs149071415
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg) rs144995371
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp) rs61749446
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.2843G>A (p.Arg948His)
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.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) rs61754033
NM_000350.3(ABCA4):c.2887G>C (p.Gly963Arg)
NM_000350.3(ABCA4):c.2889C>T (p.Gly963=)
NM_000350.3(ABCA4):c.288C>A (p.Asn96Lys) rs886039297
NM_000350.3(ABCA4):c.2900C>T (p.Ala967Val)
NM_000350.3(ABCA4):c.2902G>A (p.Gly968Arg) rs794727220
NM_000350.3(ABCA4):c.2905A>G (p.Lys969Glu)
NM_000350.3(ABCA4):c.2911A>C (p.Thr971Pro)
NM_000350.3(ABCA4):c.2919-10T>C rs886044733
NM_000350.3(ABCA4):c.2920T>C (p.Ser974Pro) rs281865400
NM_000350.3(ABCA4):c.2930C>T (p.Thr977Met)
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.2954G>T (p.Gly985Val)
NM_000350.3(ABCA4):c.2957C>T (p.Thr986Ile)
NM_000350.3(ABCA4):c.2965G>A (p.Val989Ile)
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
NM_000350.3(ABCA4):c.2980A>G (p.Ile994Val)
NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro) rs61748530
NM_000350.3(ABCA4):c.2993T>C (p.Leu998Pro)
NM_000350.3(ABCA4):c.2999C>T (p.Ala1000Val)
NM_000350.3(ABCA4):c.3017G>A (p.Gly1006Asp)
NM_000350.3(ABCA4):c.302+68C>T rs761188244
NM_000350.3(ABCA4):c.302+6T>G
NM_000350.3(ABCA4):c.3022T>C (p.Cys1008Arg)
NM_000350.3(ABCA4):c.303-3C>T
NM_000350.3(ABCA4):c.3051-15G>T
NM_000350.3(ABCA4):c.3051-19C>A
NM_000350.3(ABCA4):c.3051-19C>G
NM_000350.3(ABCA4):c.3059T>A (p.Val1020Glu)
NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=) rs886046565
NM_000350.3(ABCA4):c.3074T>C (p.Leu1025Pro)
NM_000350.3(ABCA4):c.3083C>T (p.Ala1028Val) rs121909204
NM_000350.3(ABCA4):c.3096A>G (p.Gly1032=)
NM_000350.3(ABCA4):c.3097A>G (p.Lys1033Glu)
NM_000350.3(ABCA4):c.3100T>A (p.Ser1034Thr)
NM_000350.3(ABCA4):c.3103C>G (p.Gln1035Glu) rs779067729
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919
NM_000350.3(ABCA4):c.3184C>A (p.Leu1062Ile)
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp) rs886039300
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg) rs775661924
NM_000350.3(ABCA4):c.3262C>T (p.Pro1088Ser) rs1553190579
NM_000350.3(ABCA4):c.3263C>T (p.Pro1088Leu)
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.3291A>T (p.Arg1097Ser)
NM_000350.3(ABCA4):c.3298A>G (p.Ile1100Val)
NM_000350.3(ABCA4):c.3304G>A (p.Asp1102Asn) rs138641544
NM_000350.3(ABCA4):c.3305A>C (p.Asp1102Ala) rs143689372
NM_000350.3(ABCA4):c.3305A>T (p.Asp1102Val)
NM_000350.3(ABCA4):c.331G>C (p.Glu111Gln) rs766512063
NM_000350.3(ABCA4):c.3328+18G>A
NM_000350.3(ABCA4):c.3328+5C>G
NM_000350.3(ABCA4):c.3329-11C>T
NM_000350.3(ABCA4):c.3352C>T (p.His1118Tyr)
NM_000350.3(ABCA4):c.3383A>G (p.Asp1128Gly)
NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys) rs779426136
NM_000350.3(ABCA4):c.3398T>C (p.Ile1133Thr)
NM_000350.3(ABCA4):c.3407G>T (p.Gly1136Val)
NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys)
NM_000350.3(ABCA4):c.3434T>G (p.Leu1145Arg)
NM_000350.3(ABCA4):c.3449G>A (p.Cys1150Tyr)
NM_000350.3(ABCA4):c.3468C>T (p.Tyr1156=) rs113698006
NM_000350.3(ABCA4):c.3481C>T (p.Arg1161Cys) rs553776104
NM_000350.3(ABCA4):c.3522+6T>C rs1570370713
NM_000350.3(ABCA4):c.3523-6T>C
NM_000350.3(ABCA4):c.3523-9C>G rs374302531
NM_000350.3(ABCA4):c.3533G>A (p.Ser1178Asn)
NM_000350.3(ABCA4):c.3539C>T (p.Ser1180Leu) rs267598773
NM_000350.3(ABCA4):c.3540G>A (p.Ser1180=)
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys) rs75267647
NM_000350.3(ABCA4):c.3568G>A (p.Ala1190Thr)
NM_000350.3(ABCA4):c.3574G>A (p.Val1192Ile)
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=) rs187965758
NM_000350.3(ABCA4):c.3577G>A (p.Asp1193Asn)
NM_000350.3(ABCA4):c.3586A>T (p.Thr1196Ser) rs370967816
NM_000350.3(ABCA4):c.3607+13C>T rs374630957
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg) rs1064793011
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.3639_3641CCA[1] (p.His1215del) rs1570367398
NM_000350.3(ABCA4):c.3664_3669del (p.Val1222_Glu1223del) rs1570367367
NM_000350.3(ABCA4):c.3670T>G (p.Cys1224Gly) rs762213896
NM_000350.3(ABCA4):c.3698T>C (p.Leu1233Pro) rs1366653130
NM_000350.3(ABCA4):c.3701C>T (p.Pro1234Leu) rs1383231039
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) rs138359497
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.3764C>T (p.Ala1255Val)
NM_000350.3(ABCA4):c.3812A>G (p.Glu1271Gly)
NM_000350.3(ABCA4):c.3813+7T>C rs769882474
NM_000350.3(ABCA4):c.3830C>T (p.Thr1277Met)
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.3867C>T (p.Gly1289=)
NM_000350.3(ABCA4):c.389_394del (p.His130_Ile131del)
NM_000350.3(ABCA4):c.3900A>G (p.Arg1300=) rs886044739
NM_000350.3(ABCA4):c.3913G>A (p.Gly1305Ser)
NM_000350.3(ABCA4):c.3947A>C (p.Asp1316Ala) rs746468013
NM_000350.3(ABCA4):c.3953A>G (p.Asn1318Ser)
NM_000350.3(ABCA4):c.3971C>T (p.Ala1324Val)
NM_000350.3(ABCA4):c.3977C>G (p.Ala1326Gly) rs761989194
NM_000350.3(ABCA4):c.4001C>T (p.Pro1334Leu)
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=) rs141004967
NM_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr) rs754899711
NM_000350.3(ABCA4):c.4070C>A (p.Ala1357Glu) rs552517556
NM_000350.3(ABCA4):c.4070C>T (p.Ala1357Val)
NM_000350.3(ABCA4):c.4128+11C>T
NM_000350.3(ABCA4):c.4128+12G>A
NM_000350.3(ABCA4):c.4128+16G>A
NM_000350.3(ABCA4):c.4128+8T>C
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=) rs1064797113
NM_000350.3(ABCA4):c.4129-17C>T
NM_000350.3(ABCA4):c.4129A>G (p.Ile1377Val)
NM_000350.3(ABCA4):c.4136T>C (p.Leu1379Pro)
NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=) rs139109485
NM_000350.3(ABCA4):c.4145C>T (p.Thr1382Ile)
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.419G>C (p.Arg140Pro) rs369105023
NM_000350.3(ABCA4):c.4204G>A (p.Ala1402Thr)
NM_000350.3(ABCA4):c.4216C>T (p.His1406Tyr) rs61750133
NM_000350.3(ABCA4):c.4223G>T (p.Trp1408Leu) rs61750134
NM_000350.3(ABCA4):c.4228T>G (p.Tyr1410Asp)
NM_000350.3(ABCA4):c.4239G>C (p.Gln1413His)
NM_000350.3(ABCA4):c.424C>T (p.His142Tyr) rs1085307835
NM_000350.3(ABCA4):c.4253+43G>A rs61754045
NM_000350.3(ABCA4):c.4253+6C>T rs372660973
NM_000350.3(ABCA4):c.4254-5T>G rs886044551
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) rs142673376
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060
NM_000350.3(ABCA4):c.4329C>T (p.Arg1443=)
NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg) rs142506651
NM_000350.3(ABCA4):c.4352+13G>A rs61754048
NM_000350.3(ABCA4):c.4352+14C>T rs75359153
NM_000350.3(ABCA4):c.4352+15G>A
NM_000350.3(ABCA4):c.4352+5G>T
NM_000350.3(ABCA4):c.4353-4T>C
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368
NM_000350.3(ABCA4):c.4387A>C (p.Thr1463Pro)
NM_000350.3(ABCA4):c.4391C>T (p.Pro1464Leu)
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.4416G>A (p.Gln1472=)
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met) rs142732109
NM_000350.3(ABCA4):c.442+6C>A
NM_000350.3(ABCA4):c.4467G>T (p.Arg1489Ser) rs140952412
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.4518C>T (p.Ala1506=)
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>A (p.Pro1512His)
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402
NM_000350.3(ABCA4):c.4539+2000G>A
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785
NM_000350.3(ABCA4):c.4539+2066C>G rs1571261864
NM_000350.3(ABCA4):c.4539+2084C>T
NM_000350.3(ABCA4):c.4540-2036C>A rs886044743
NM_000350.3(ABCA4):c.4540-5C>G rs1476415689
NM_000350.3(ABCA4):c.4549C>T (p.Arg1517Cys)
NM_000350.3(ABCA4):c.4556C>T (p.Thr1519Met)
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=) rs774957381
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=) rs138831474
NM_000350.3(ABCA4):c.457A>G (p.Ile153Val)
NM_000350.3(ABCA4):c.4593C>T (p.Ser1531=)
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser) rs1557770154
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.4625T>C (p.Ile1542Thr)
NM_000350.3(ABCA4):c.4632C>G (p.Ser1544Arg)
NM_000350.3(ABCA4):c.4635C>T (p.Ser1545=) rs886044744
NM_000350.3(ABCA4):c.463G>A (p.Asp155Asn) rs1570426424
NM_000350.3(ABCA4):c.4659T>A (p.Asn1553Lys)
NM_000350.3(ABCA4):c.4667G>A (p.Arg1556Lys)
NM_000350.3(ABCA4):c.4668-15C>T rs61754054
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.3(ABCA4):c.4672G>A (p.Gly1558Arg)
NM_000350.3(ABCA4):c.4676G>A (p.Gly1559Glu)
NM_000350.3(ABCA4):c.4679T>A (p.Ile1560Asn) rs1571258567
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) rs377398404
NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met) rs185093512
NM_000350.3(ABCA4):c.4730T>C (p.Val1577Ala) rs771574413
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.4765G>A (p.Val1589Met)
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+3A>G rs759672616
NM_000350.3(ABCA4):c.4775G>A (p.Gly1592Asp)
NM_000350.3(ABCA4):c.4783A>G (p.Thr1595Ala)
NM_000350.3(ABCA4):c.4817T>C (p.Leu1606Pro)
NM_000350.3(ABCA4):c.4823A>G (p.His1608Arg)
NM_000350.3(ABCA4):c.4837G>A (p.Asp1613Asn)
NM_000350.3(ABCA4):c.4842C>G (p.Asn1614Lys) rs1265079301
NM_000350.3(ABCA4):c.4848+13T>C rs374196141
NM_000350.3(ABCA4):c.4848+4C>T
NM_000350.3(ABCA4):c.4849G>A (p.Val1617Met)
NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys) rs61752439
NM_000350.3(ABCA4):c.4859A>T (p.Asn1620Ile)
NM_000350.3(ABCA4):c.4868G>T (p.Gly1623Val) rs1571257969
NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr) rs1085307968
NM_000350.3(ABCA4):c.488T>G (p.Leu163Arg)
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.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.4948G>A (p.Glu1650Lys)
NM_000350.3(ABCA4):c.4966G>A (p.Val1656Ile)
NM_000350.3(ABCA4):c.4966G>T (p.Val1656Phe)
NM_000350.3(ABCA4):c.4974C>G (p.Ser1658Arg)
NM_000350.3(ABCA4):c.5018T>C (p.Val1673Ala)
NM_000350.3(ABCA4):c.5024C>G (p.Thr1675Ser)
NM_000350.3(ABCA4):c.5026A>C (p.Thr1676Pro)
NM_000350.3(ABCA4):c.5026A>T (p.Thr1676Ser)
NM_000350.3(ABCA4):c.5032G>A (p.Val1678Met)
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019
NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe)
NM_000350.3(ABCA4):c.5076C>T (p.Phe1692=)
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563
NM_000350.3(ABCA4):c.5080C>A (p.Pro1694Thr)
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310
NM_000350.3(ABCA4):c.511A>T (p.Ile171Phe)
NM_000350.3(ABCA4):c.5121C>A (p.Asn1707Lys) rs886046562
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532
NM_000350.3(ABCA4):c.5171G>C (p.Trp1724Ser) rs1571256634
NM_000350.3(ABCA4):c.5172G>T (p.Trp1724Cys)
NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro) rs61750567
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+3_5196+6del rs61753023
NM_000350.3(ABCA4):c.5197-4C>T rs758825834
NM_000350.3(ABCA4):c.5206T>C (p.Ser1736Pro) rs61750568
NM_000350.3(ABCA4):c.5219G>A (p.Gly1740Glu) rs794727593
NM_000350.3(ABCA4):c.5241C>T (p.Ile1747=)
NM_000350.3(ABCA4):c.5242G>A (p.Gly1748Arg) rs61753025
NM_000350.3(ABCA4):c.5243G>A (p.Gly1748Glu)
NM_000350.3(ABCA4):c.5258C>T (p.Ala1753Val)
NM_000350.3(ABCA4):c.5273A>G (p.Glu1758Gly)
NM_000350.3(ABCA4):c.5281C>A (p.Pro1761Thr)
NM_000350.3(ABCA4):c.5281_5289del (p.Pro1761_Leu1763del) rs61753027
NM_000350.3(ABCA4):c.5308T>G (p.Tyr1770Asp)
NM_000350.3(ABCA4):c.5312+11T>C
NM_000350.3(ABCA4):c.5312+3A>T rs767451031
NM_000350.3(ABCA4):c.5312+8G>A rs187953772
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207
NM_000350.3(ABCA4):c.535T>C (p.Tyr179His)
NM_000350.3(ABCA4):c.5361C>T (p.Val1787=)
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val)
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=) rs202199507
NM_000350.3(ABCA4):c.5407G>A (p.Gly1803Ser)
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029
NM_000350.3(ABCA4):c.5418C>A (p.Ser1806Arg)
NM_000350.3(ABCA4):c.5459G>C (p.Arg1820Pro) rs62646875
NM_000350.3(ABCA4):c.5460+3G>A
NM_000350.3(ABCA4):c.5460+6C>T rs886046561
NM_000350.3(ABCA4):c.5463G>A (p.Thr1821=) rs367857935
NM_000350.3(ABCA4):c.5471G>C (p.Arg1824Thr)
NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=) rs762632312
NM_000350.3(ABCA4):c.5479G>A (p.Ala1827Thr)
NM_000350.3(ABCA4):c.5510C>T (p.Pro1837Leu) rs1571250077
NM_000350.3(ABCA4):c.5519G>C (p.Cys1840Ser)
NM_000350.3(ABCA4):c.5533C>T (p.Leu1845Phe)
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu) rs374687000
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.5584G>A (p.Gly1862Ser)
NM_000350.3(ABCA4):c.5593C>T (p.His1865Tyr)
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5610C>A (p.Phe1870Leu) rs886046560
NM_000350.3(ABCA4):c.5640T>A (p.Phe1880Leu)
NM_000350.3(ABCA4):c.5642C>A (p.Ala1881Asp)
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val)
NM_000350.3(ABCA4):c.5645T>C (p.Met1882Thr)
NM_000350.3(ABCA4):c.5652G>A (p.Val1884=)
NM_000350.3(ABCA4):c.5659G>A (p.Val1887Met) rs764320529
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+1798A>G
NM_000350.3(ABCA4):c.570+7G>T
NM_000350.3(ABCA4):c.571-3C>A
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=) rs191506332
NM_000350.3(ABCA4):c.5714+19C>A
NM_000350.3(ABCA4):c.5714+4C>T rs376586802
NM_000350.3(ABCA4):c.5719_5720delinsTT (p.Ala1907Phe)
NM_000350.3(ABCA4):c.5734G>A (p.Glu1912Lys)
NM_000350.3(ABCA4):c.5737C>A (p.Pro1913Thr)
NM_000350.3(ABCA4):c.573C>T (p.Phe191=)
NM_000350.3(ABCA4):c.574G>A (p.Ala192Thr) rs61748535
NM_000350.3(ABCA4):c.575C>T (p.Ala192Val)
NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met) rs61753032
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile) rs1208195953
NM_000350.3(ABCA4):c.5791G>A (p.Gly1931Ser)
NM_000350.3(ABCA4):c.5822A>C (p.His1941Pro) rs1161119501
NM_000350.3(ABCA4):c.5824G>C (p.Glu1942Gln)
NM_000350.3(ABCA4):c.5836-7C>T rs886042784
NM_000350.3(ABCA4):c.583G>C (p.Val195Leu)
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141
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.589G>C (p.Asp197His)
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.3(ABCA4):c.5921A>G (p.Asn1974Ser)
NM_000350.3(ABCA4):c.5935A>G (p.Thr1979Ala) rs1571247308
NM_000350.3(ABCA4):c.5951T>G (p.Met1984Arg)
NM_000350.3(ABCA4):c.5953C>T (p.Leu1985Phe) rs886046559
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val) rs145065936
NM_000350.3(ABCA4):c.5970_5990del (p.Thr1992_Val1998del)
NM_000350.3(ABCA4):c.5973G>C (p.Val1991=) rs886044757
NM_000350.3(ABCA4):c.5992G>A (p.Val1998Ile)
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.6091G>A (p.Glu2031Lys)
NM_000350.3(ABCA4):c.6094C>T (p.His2032Tyr)
NM_000350.3(ABCA4):c.6095A>G (p.His2032Arg)
NM_000350.3(ABCA4):c.6107A>G (p.Tyr2036Cys) rs878853398
NM_000350.3(ABCA4):c.6110C>T (p.Ala2037Val)
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln) rs767729255
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146
NM_000350.3(ABCA4):c.6124G>A (p.Val2042Ile)
NM_000350.3(ABCA4):c.6127C>A (p.Pro2043Thr)
NM_000350.3(ABCA4):c.6147+8A>C
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.614G>T (p.Cys205Phe)
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.6193G>C (p.Asp2065His) rs886043588
NM_000350.3(ABCA4):c.619G>A (p.Glu207Lys)
NM_000350.3(ABCA4):c.6208_6209delinsCA (p.Thr2070Gln)
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.6221G>T (p.Gly2074Val) rs367839100
NM_000350.3(ABCA4):c.6234A>C (p.Lys2078Asn)
NM_000350.3(ABCA4):c.6245C>T (p.Ala2082Val)
NM_000350.3(ABCA4):c.6250G>A (p.Ala2084Thr)
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=) rs61748519
NM_000350.3(ABCA4):c.6282+9G>A
NM_000350.3(ABCA4):c.6283-7C>A
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646
NM_000350.3(ABCA4):c.629T>A (p.Leu210Gln)
NM_000350.3(ABCA4):c.6302T>G (p.Met2101Arg)
NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser) rs2297669
NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys) rs2297669
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro) rs886044761
NM_000350.3(ABCA4):c.6334G>C (p.Val2112Leu)
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met) rs202127235
NM_000350.3(ABCA4):c.6380C>T (p.Ser2127Phe)
NM_000350.3(ABCA4):c.638T>A (p.Phe213Tyr)
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.6438C>T (p.Gly2146=)
NM_000350.3(ABCA4):c.6439G>A (p.Ala2147Thr)
NM_000350.3(ABCA4):c.6446G>A (p.Arg2149Gln)
NM_000350.3(ABCA4):c.6453G>T (p.Met2151Ile) rs1057518954
NM_000350.3(ABCA4):c.6455G>T (p.Gly2152Val)
NM_000350.3(ABCA4):c.6494A>G (p.Tyr2165Cys)
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=) rs61751379
NM_000350.3(ABCA4):c.6521C>T (p.Pro2174Leu)
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr) rs61748537
NM_000350.3(ABCA4):c.6579C>T (p.Phe2193=)
NM_000350.3(ABCA4):c.661G>A (p.Gly221Arg)
NM_000350.3(ABCA4):c.667A>C (p.Lys223Gln)
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.6694G>A (p.Glu2232Lys)
NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala)
NM_000350.3(ABCA4):c.671C>T (p.Thr224Met)
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521
NM_000350.3(ABCA4):c.6722T>C (p.Leu2241Pro)
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.3(ABCA4):c.673G>A (p.Val225Met) rs540124349
NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser)
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.6805C>T (p.Arg2269Ter)
NM_000350.3(ABCA4):c.6806G>A (p.Arg2269Gln)
NM_000350.3(ABCA4):c.6816+6C>T
NM_000350.3(ABCA4):c.70C>G (p.Arg24Gly)
NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys) rs62645942
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958
NM_000350.3(ABCA4):c.733T>C (p.Tyr245His)
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.764G>A (p.Arg255His) rs148387660
NM_000350.3(ABCA4):c.766G>T (p.Val256Leu)
NM_000350.3(ABCA4):c.769-3C>T rs368010652
NM_000350.3(ABCA4):c.772C>T (p.Pro258Ser)
NM_000350.3(ABCA4):c.785A>G (p.Asp262Gly)
NM_000350.3(ABCA4):c.791G>A (p.Arg264His) rs567985213
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu) rs138682163
NM_000350.3(ABCA4):c.847A>G (p.Arg283Gly)
NM_000350.3(ABCA4):c.859-14_859-13del
NM_000350.3(ABCA4):c.869G>A (p.Arg290Gln)
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.885C>G (p.Asp295Glu) rs1553194068
NM_000350.3(ABCA4):c.88G>A (p.Val30Met) rs202127496
NM_000350.3(ABCA4):c.910A>T (p.Met304Leu)
NM_000350.3(ABCA4):c.911_937del (p.Met304_Phe312del)
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg) rs61748545
NM_000350.3(ABCA4):c.945G>A (p.Leu315=)
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.998G>A (p.Arg333Gln)
NM_000350.3(ABCA4):c.9C>T (p.Phe3=)

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