ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 845
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000350.3(ABCA4):c.*10C>A rs145634012 0.00671
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417 0.00491
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00385
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00222
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu) rs138682163 0.00183
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030 0.00174
NM_000350.3(ABCA4):c.574G>A (p.Ala192Thr) rs61748535 0.00158
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148 0.00120
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919 0.00100
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454 0.00089
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594 0.00078
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019 0.00076
NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg) rs142506651 0.00071
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_000350.3(ABCA4):c.3468C>T (p.Tyr1156=) rs113698006 0.00053
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val) rs145065936 0.00046
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) rs61754033 0.00041
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg) rs144995371 0.00034
NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys) rs150895509 0.00034
NM_000350.3(ABCA4):c.4401C>T (p.Ser1467=) rs188775667 0.00034
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532 0.00033
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met) rs139250920 0.00029
NM_000350.3(ABCA4):c.5692C>T (p.Arg1898Cys) rs201357151 0.00029
NM_000350.3(ABCA4):c.294C>G (p.Asn98Lys) rs145133167 0.00028
NM_000350.3(ABCA4):c.3076T>C (p.Phe1026Leu) rs369703217 0.00028
NM_000350.3(ABCA4):c.6124G>A (p.Val2042Ile) rs138384263 0.00025
NM_000350.3(ABCA4):c.667A>C (p.Lys223Gln) rs147619585 0.00023
NM_000350.3(ABCA4):c.5984A>T (p.Asp1995Val) rs141489669 0.00022
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=) rs138831474 0.00021
NM_000350.3(ABCA4):c.6068T>C (p.Ile2023Thr) rs150633517 0.00021
NM_000350.3(ABCA4):c.2473G>A (p.Gly825Arg) rs368367104 0.00019
NM_000350.3(ABCA4):c.5606C>T (p.Pro1869Leu) rs376925793 0.00019
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000350.3(ABCA4):c.5312+8G>A rs187953772 0.00016
NM_000350.3(ABCA4):c.2673A>T (p.Glu891Asp) rs766079334 0.00014
NM_000350.3(ABCA4):c.3220A>G (p.Ile1074Val) rs368054254 0.00014
NM_000350.3(ABCA4):c.6560A>G (p.Gln2187Arg) rs1339233014 0.00014
NM_000350.3(ABCA4):c.1544A>G (p.Gln515Arg) rs372838089 0.00011
NM_000350.3(ABCA4):c.1636A>C (p.Met546Leu) rs148391873 0.00010
NM_000350.3(ABCA4):c.2354G>A (p.Arg785His) rs368457541 0.00010
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser) rs149071415 0.00009
NM_000350.3(ABCA4):c.2822G>A (p.Cys941Tyr) rs113503406 0.00009
NM_000350.3(ABCA4):c.5714+4C>T rs376586802 0.00009
NM_000350.3(ABCA4):c.573C>T (p.Phe191=) rs374454045 0.00009
NM_000350.3(ABCA4):c.589G>C (p.Asp197His) rs142985501 0.00009
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met) rs202127235 0.00009
NM_000350.3(ABCA4):c.6816+5C>T rs774815742 0.00009
NM_000350.3(ABCA4):c.826A>G (p.Ile276Val) rs747686223 0.00009
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405 0.00009
NM_000350.3(ABCA4):c.1552G>A (p.Glu518Lys) rs369860406 0.00008
NM_000350.3(ABCA4):c.2843G>A (p.Arg948His) rs148545207 0.00008
NM_000350.3(ABCA4):c.5460+3G>A rs371777196 0.00008
NM_000350.3(ABCA4):c.5478C>T (p.Asn1826=) rs762632312 0.00008
NM_000350.3(ABCA4):c.6446G>A (p.Arg2149Gln) rs61750655 0.00008
NM_000350.3(ABCA4):c.673G>A (p.Val225Met) rs540124349 0.00008
NM_000350.3(ABCA4):c.1459C>T (p.Arg487Trp) rs369286283 0.00007
NM_000350.3(ABCA4):c.4253+6C>T rs372660973 0.00007
NM_000350.3(ABCA4):c.1153A>G (p.Ile385Val) rs753720666 0.00006
NM_000350.3(ABCA4):c.1267C>T (p.His423Tyr) rs138044729 0.00006
NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg) rs140281495 0.00006
NM_000350.3(ABCA4):c.2652A>G (p.Glu884=) rs200186333 0.00006
NM_000350.3(ABCA4):c.3184C>A (p.Leu1062Ile) rs966434923 0.00006
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_000350.3(ABCA4):c.571T>A (p.Phe191Ile) rs200696846 0.00006
NM_000350.3(ABCA4):c.742G>A (p.Val248Met) rs200719724 0.00006
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452 0.00005
NM_000350.3(ABCA4):c.1371C>A (p.Asn457Lys) rs766282109 0.00005
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 0.00005
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn) rs145265791 0.00005
NM_000350.3(ABCA4):c.1945A>T (p.Ile649Phe) rs374458630 0.00005
NM_000350.3(ABCA4):c.2267C>T (p.Ser756Phe) rs372508062 0.00005
NM_000350.3(ABCA4):c.2341G>A (p.Ala781Thr) rs774505934 0.00005
NM_000350.3(ABCA4):c.2711C>T (p.Thr904Met) rs774699366 0.00005
NM_000350.3(ABCA4):c.3370G>A (p.Asp1124Asn) rs770774738 0.00005
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met) rs142732109 0.00005
NM_000350.3(ABCA4):c.4643G>A (p.Ser1548Asn) rs750192063 0.00005
NM_000350.3(ABCA4):c.570+1798A>G rs888731641 0.00005
NM_000350.3(ABCA4):c.5734G>A (p.Glu1912Lys) rs145299063 0.00005
NM_000350.3(ABCA4):c.751T>C (p.Phe251Leu) rs146365399 0.00005
NM_000350.3(ABCA4):c.764G>A (p.Arg255His) rs148387660 0.00005
NM_000350.3(ABCA4):c.1156G>A (p.Ala386Thr) rs770754513 0.00004
NM_000350.3(ABCA4):c.1208A>T (p.Asp403Val) rs913030626 0.00004
NM_000350.3(ABCA4):c.156T>G (p.His52Gln) rs557725292 0.00004
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) rs74516571 0.00004
NM_000350.3(ABCA4):c.1729G>A (p.Val577Met) rs547063913 0.00004
NM_000350.3(ABCA4):c.2924T>C (p.Ile975Thr) rs146140442 0.00004
NM_000350.3(ABCA4):c.3539C>T (p.Ser1180Leu) rs267598773 0.00004
NM_000350.3(ABCA4):c.3586A>T (p.Thr1196Ser) rs370967816 0.00004
NM_000350.3(ABCA4):c.3940C>A (p.Pro1314Thr) rs61754041 0.00004
NM_000350.3(ABCA4):c.3974C>T (p.Pro1325Leu) rs371582683 0.00004
NM_000350.3(ABCA4):c.4025C>T (p.Pro1342Leu) rs981447805 0.00004
NM_000350.3(ABCA4):c.4132G>A (p.Val1378Met) rs777063656 0.00004
NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro) rs61752430 0.00004
NM_000350.3(ABCA4):c.4204G>A (p.Ala1402Thr) rs554101094 0.00004
NM_000350.3(ABCA4):c.4387A>C (p.Thr1463Pro) rs113134400 0.00004
NM_000350.3(ABCA4):c.4625T>C (p.Ile1542Thr) rs374921762 0.00004
NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln) rs61753021 0.00004
NM_000350.3(ABCA4):c.5197-3G>A rs180865157 0.00004
NM_000350.3(ABCA4):c.5198T>C (p.Met1733Thr) rs765563320 0.00004
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu) rs374687000 0.00004
NM_000350.3(ABCA4):c.5888G>A (p.Arg1963His) rs758431657 0.00004
NM_000350.3(ABCA4):c.6218G>C (p.Gly2073Ala) rs752850266 0.00004
NM_000350.3(ABCA4):c.661G>A (p.Gly221Arg) rs777187728 0.00004
NM_000350.3(ABCA4):c.694C>T (p.Leu232Phe) rs757844726 0.00004
NM_000350.3(ABCA4):c.766G>T (p.Val256Leu) rs374851665 0.00004
NM_000350.3(ABCA4):c.1003C>T (p.Leu335Phe) rs1057520668 0.00003
NM_000350.3(ABCA4):c.1166C>T (p.Ala389Val) rs201263774 0.00003
NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys) rs770439859 0.00003
NM_000350.3(ABCA4):c.1493A>G (p.Asp498Gly) rs147135304 0.00003
NM_000350.3(ABCA4):c.1655T>C (p.Val552Ala) rs141864243 0.00003
NM_000350.3(ABCA4):c.2147C>T (p.Thr716Met) rs61749426 0.00003
NM_000350.3(ABCA4):c.2311A>T (p.Thr771Ser) rs758090662 0.00003
NM_000350.3(ABCA4):c.2432G>A (p.Arg811His) rs368016280 0.00003
NM_000350.3(ABCA4):c.2692G>A (p.Glu898Lys) rs61749441 0.00003
NM_000350.3(ABCA4):c.3328+5C>G rs1046246251 0.00003
NM_000350.3(ABCA4):c.3481C>T (p.Arg1161Cys) rs553776104 0.00003
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) rs138359497 0.00003
NM_000350.3(ABCA4):c.4471A>G (p.Ser1491Gly) rs1157937249 0.00003
NM_000350.3(ABCA4):c.5791G>A (p.Gly1931Ser) rs757462382 0.00003
NM_000350.3(ABCA4):c.5824G>C (p.Glu1942Gln) rs760353830 0.00003
NM_000350.3(ABCA4):c.6424A>G (p.Ile2142Val) rs769683820 0.00003
NM_000350.3(ABCA4):c.6439G>A (p.Ala2147Thr) rs966835207 0.00003
NM_000350.3(ABCA4):c.646T>C (p.Phe216Leu) rs1320363264 0.00003
NM_000350.3(ABCA4):c.6484G>A (p.Gly2162Arg) rs545397722 0.00003
NM_000350.3(ABCA4):c.671C>T (p.Thr224Met) rs373540612 0.00003
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521 0.00003
NM_000350.3(ABCA4):c.6806G>A (p.Arg2269Gln) rs202223056 0.00003
NM_000350.3(ABCA4):c.1054G>A (p.Asp352Asn) rs577385550 0.00002
NM_000350.3(ABCA4):c.1227G>T (p.Arg409Ser) rs267598778 0.00002
NM_000350.3(ABCA4):c.1480A>G (p.Met494Val) rs377135053 0.00002
NM_000350.3(ABCA4):c.1492G>A (p.Asp498Asn) rs750836609 0.00002
NM_000350.3(ABCA4):c.1538T>C (p.Val513Ala) rs750393418 0.00002
NM_000350.3(ABCA4):c.1543C>A (p.Gln515Lys) rs767631662 0.00002
NM_000350.3(ABCA4):c.1595C>T (p.Thr532Ile) rs1023123094 0.00002
NM_000350.3(ABCA4):c.1615C>G (p.Leu539Val) rs748615703 0.00002
NM_000350.3(ABCA4):c.1745A>G (p.Asn582Ser) rs368362755 0.00002
NM_000350.3(ABCA4):c.2126C>T (p.Ser709Leu) rs374152623 0.00002
NM_000350.3(ABCA4):c.2304C>G (p.Ile768Met) rs946594091 0.00002
NM_000350.3(ABCA4):c.239C>T (p.Pro80Leu) rs1256178077 0.00002
NM_000350.3(ABCA4):c.303-3C>T rs777945195 0.00002
NM_000350.3(ABCA4):c.3050+6C>T rs759668436 0.00002
NM_000350.3(ABCA4):c.3449G>A (p.Cys1150Tyr) rs375783686 0.00002
NM_000350.3(ABCA4):c.371G>A (p.Arg124His) rs769541140 0.00002
NM_000350.3(ABCA4):c.3971C>T (p.Ala1324Val) rs369361520 0.00002
NM_000350.3(ABCA4):c.4100T>C (p.Ile1367Thr) rs1054210292 0.00002
NM_000350.3(ABCA4):c.4248C>A (p.Phe1416Leu) rs1480701186 0.00002
NM_000350.3(ABCA4):c.4402C>G (p.Pro1468Ala) rs775082837 0.00002
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402 0.00002
NM_000350.3(ABCA4):c.4550G>A (p.Arg1517His) rs201523394 0.00002
NM_000350.3(ABCA4):c.47C>T (p.Thr16Ile) rs949028237 0.00002
NM_000350.3(ABCA4):c.5321T>C (p.Val1774Ala) rs927897822 0.00002
NM_000350.3(ABCA4):c.5459G>A (p.Arg1820Gln) rs62646875 0.00002
NM_000350.3(ABCA4):c.571-3C>A rs754918602 0.00002
NM_000350.3(ABCA4):c.587C>T (p.Pro196Leu) rs769176363 0.00002
NM_000350.3(ABCA4):c.5966C>T (p.Thr1989Ile) rs766811018 0.00002
NM_000350.3(ABCA4):c.6109G>A (p.Ala2037Thr) rs756555985 0.00002
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln) rs767729255 0.00002
NM_000350.3(ABCA4):c.6496A>G (p.Ile2166Val) rs200658526 0.00002
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr) rs61748537 0.00002
NM_000350.3(ABCA4):c.839T>C (p.Met280Thr) rs768480500 0.00002
NM_000350.3(ABCA4):c.88G>A (p.Val30Met) rs202127496 0.00002
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420 0.00001
NM_000350.3(ABCA4):c.1082C>A (p.Ser361Tyr) rs748487419 0.00001
NM_000350.3(ABCA4):c.1097C>T (p.Thr366Ile) rs749494322 0.00001
NM_000350.3(ABCA4):c.1120A>T (p.Ile374Phe) rs1661630042 0.00001
NM_000350.3(ABCA4):c.1157C>T (p.Ala386Val) rs767034759 0.00001
NM_000350.3(ABCA4):c.118A>T (p.Ile40Phe) rs761112891 0.00001
NM_000350.3(ABCA4):c.1192A>G (p.Ile398Val) rs776798532 0.00001
NM_000350.3(ABCA4):c.1214C>G (p.Pro405Arg) rs749008843 0.00001
NM_000350.3(ABCA4):c.1370A>G (p.Asn457Ser) rs1661579247 0.00001
NM_000350.3(ABCA4):c.154C>G (p.His52Asp) rs941059389 0.00001
NM_000350.3(ABCA4):c.1569T>G (p.Asp523Glu) rs62646868 0.00001
NM_000350.3(ABCA4):c.1586A>G (p.Asn529Ser) rs764995626 0.00001
NM_000350.3(ABCA4):c.1660C>T (p.Pro554Ser) rs1380991789 0.00001
NM_000350.3(ABCA4):c.1688T>A (p.Leu563Gln) rs754652550 0.00001
NM_000350.3(ABCA4):c.1817G>A (p.Gly606Asp) rs147932486 0.00001
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu) rs1057520211 0.00001
NM_000350.3(ABCA4):c.2014A>G (p.Lys672Glu) rs377508857 0.00001
NM_000350.3(ABCA4):c.2020A>G (p.Ile674Val) rs759410405 0.00001
NM_000350.3(ABCA4):c.2158A>G (p.Met720Val) rs762593392 0.00001
NM_000350.3(ABCA4):c.2165G>C (p.Gly722Ala) rs1660996321 0.00001
NM_000350.3(ABCA4):c.2236A>G (p.Met746Val) rs1293462383 0.00001
NM_000350.3(ABCA4):c.2470A>G (p.Ile824Val) rs1660942758 0.00001
NM_000350.3(ABCA4):c.2480G>C (p.Ser827Thr) rs144018419 0.00001
NM_000350.3(ABCA4):c.2489A>G (p.Glu830Gly) rs768241038 0.00001
NM_000350.3(ABCA4):c.2497G>A (p.Glu833Lys) rs755640766 0.00001
NM_000350.3(ABCA4):c.2530C>T (p.Leu844Phe) rs765425569 0.00001
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437 0.00001
NM_000350.3(ABCA4):c.2608C>T (p.Pro870Ser) rs867875828 0.00001
NM_000350.3(ABCA4):c.2647G>A (p.Gly883Ser) rs750311446 0.00001
NM_000350.3(ABCA4):c.2716G>A (p.Asp906Asn) rs1406771874 0.00001
NM_000350.3(ABCA4):c.2742C>T (p.His914=) rs1362746093 0.00001
NM_000350.3(ABCA4):c.2758C>T (p.Arg920Cys) rs533451778 0.00001
NM_000350.3(ABCA4):c.2779C>T (p.Pro927Ser) rs985690206 0.00001
NM_000350.3(ABCA4):c.2833G>T (p.Ala945Ser) rs150616268 0.00001
NM_000350.3(ABCA4):c.2842C>T (p.Arg948Cys) rs751222829 0.00001
NM_000350.3(ABCA4):c.2920T>C (p.Ser974Pro) rs281865400 0.00001
NM_000350.3(ABCA4):c.2965G>A (p.Val989Ile) rs552307838 0.00001
NM_000350.3(ABCA4):c.2980A>G (p.Ile994Val) rs546606452 0.00001
NM_000350.3(ABCA4):c.3008A>G (p.Gln1003Arg) rs764324152 0.00001
NM_000350.3(ABCA4):c.306G>T (p.Leu102Phe) rs1054538871 0.00001
NM_000350.3(ABCA4):c.3097A>G (p.Lys1033Glu) rs771234031 0.00001
NM_000350.3(ABCA4):c.3103C>G (p.Gln1035Glu) rs779067729 0.00001
NM_000350.3(ABCA4):c.3163C>T (p.Arg1055Trp) rs61752412 0.00001
NM_000350.3(ABCA4):c.3164G>A (p.Arg1055Gln) rs187071406 0.00001
NM_000350.3(ABCA4):c.3337A>G (p.Ile1113Val) rs1385693763 0.00001
NM_000350.3(ABCA4):c.3372C>G (p.Asp1124Glu) rs746647738 0.00001
NM_000350.3(ABCA4):c.3409A>G (p.Arg1137Gly) rs765328414 0.00001
NM_000350.3(ABCA4):c.3413T>C (p.Leu1138Pro) rs1287053724 0.00001
NM_000350.3(ABCA4):c.3428C>A (p.Thr1143Asn) rs767894041 0.00001
NM_000350.3(ABCA4):c.3430C>T (p.Pro1144Ser) rs1047230065 0.00001
NM_000350.3(ABCA4):c.3560C>T (p.Thr1187Met) rs1266156413 0.00001
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=) rs187965758 0.00001
NM_000350.3(ABCA4):c.3577G>A (p.Asp1193Asn) rs777239290 0.00001
NM_000350.3(ABCA4):c.36G>C (p.Trp12Cys) rs761209432 0.00001
NM_000350.3(ABCA4):c.3868G>A (p.Ala1290Thr) rs143576497 0.00001
NM_000350.3(ABCA4):c.3872A>T (p.Gln1291Leu) rs1660220944 0.00001
NM_000350.3(ABCA4):c.3913G>A (p.Gly1305Ser) rs1660219342 0.00001
NM_000350.3(ABCA4):c.3914G>A (p.Gly1305Asp) rs750473426 0.00001
NM_000350.3(ABCA4):c.3953A>G (p.Asn1318Ser) rs960704174 0.00001
NM_000350.3(ABCA4):c.3962C>T (p.Ser1321Phe) rs779524552 0.00001
NM_000350.3(ABCA4):c.4001C>T (p.Pro1334Leu) rs770774620 0.00001
NM_000350.3(ABCA4):c.4022G>A (p.Gly1341Asp) rs779248561 0.00001
NM_000350.3(ABCA4):c.4037C>T (p.Thr1346Met) rs780550919 0.00001
NM_000350.3(ABCA4):c.4124C>T (p.Ala1375Val) rs1267585230 0.00001
NM_000350.3(ABCA4):c.418C>T (p.Arg140Trp) rs1173809441 0.00001
NM_000350.3(ABCA4):c.419G>A (p.Arg140Gln) rs369105023 0.00001
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368 0.00001
NM_000350.3(ABCA4):c.4378C>T (p.Pro1460Ser) rs373181448 0.00001
NM_000350.3(ABCA4):c.4405A>G (p.Asn1469Asp) rs769441167 0.00001
NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=) rs750526487 0.00001
NM_000350.3(ABCA4):c.4510G>A (p.Glu1504Lys) rs190370456 0.00001
NM_000350.3(ABCA4):c.4516G>A (p.Ala1506Thr) rs1243394849 0.00001
NM_000350.3(ABCA4):c.4529C>T (p.Pro1510Leu) rs756106154 0.00001
NM_000350.3(ABCA4):c.463G>A (p.Asp155Asn) rs1570426424 0.00001
NM_000350.3(ABCA4):c.4667+6A>T rs760131250 0.00001
NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr) rs1385119665 0.00001
NM_000350.3(ABCA4):c.5024C>G (p.Thr1675Ser) rs375156009 0.00001
NM_000350.3(ABCA4):c.5032G>A (p.Val1678Met) rs1659845637 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.5209G>A (p.Val1737Met) rs761017794 0.00001
NM_000350.3(ABCA4):c.5233A>G (p.Ile1745Val) rs775593910 0.00001
NM_000350.3(ABCA4):c.5235C>G (p.Ile1745Met) rs769668293 0.00001
NM_000350.3(ABCA4):c.5239A>G (p.Ile1747Val) rs745658425 0.00001
NM_000350.3(ABCA4):c.5273A>G (p.Glu1758Gly) rs779399010 0.00001
NM_000350.3(ABCA4):c.5404A>G (p.Ile1802Val) rs974596881 0.00001
NM_000350.3(ABCA4):c.5407G>A (p.Gly1803Ser) rs755666756 0.00001
NM_000350.3(ABCA4):c.5462C>T (p.Thr1821Met) rs774891564 0.00001
NM_000350.3(ABCA4):c.5463G>A (p.Thr1821=) rs367857935 0.00001
NM_000350.3(ABCA4):c.5501T>C (p.Ile1834Thr) rs748355733 0.00001
NM_000350.3(ABCA4):c.5579G>A (p.Arg1860Gln) rs761240030 0.00001
NM_000350.3(ABCA4):c.5618A>G (p.Asp1873Gly) rs778550733 0.00001
NM_000350.3(ABCA4):c.5648T>C (p.Val1883Ala) rs1659524799 0.00001
NM_000350.3(ABCA4):c.5659G>A (p.Val1887Met) rs764320529 0.00001
NM_000350.3(ABCA4):c.5684T>C (p.Leu1895Pro) rs1265846081 0.00001
NM_000350.3(ABCA4):c.5755G>T (p.Asp1919Tyr) rs756324586 0.00001
NM_000350.3(ABCA4):c.5792G>C (p.Gly1931Ala) rs954069176 0.00001
NM_000350.3(ABCA4):c.5818C>A (p.Leu1940Ile) rs1659466058 0.00001
NM_000350.3(ABCA4):c.5836-3C>A rs1064793013 0.00001
NM_000350.3(ABCA4):c.5878G>A (p.Val1960Ile) rs1379929424 0.00001
NM_000350.3(ABCA4):c.6038A>G (p.Asn2013Ser) rs774582273 0.00001
NM_000350.3(ABCA4):c.610G>A (p.Ala204Thr) rs754899561 0.00001
NM_000350.3(ABCA4):c.6146A>C (p.Lys2049Thr) rs760481450 0.00001
NM_000350.3(ABCA4):c.6208A>G (p.Thr2070Ala) rs151212933 0.00001
NM_000350.3(ABCA4):c.6269C>T (p.Pro2090Leu) rs533271864 0.00001
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646 0.00001
NM_000350.3(ABCA4):c.6301A>T (p.Met2101Leu) rs1291006472 0.00001
NM_000350.3(ABCA4):c.638T>A (p.Phe213Tyr) rs751029989 0.00001
NM_000350.3(ABCA4):c.6442T>C (p.Phe2148Leu) rs780798765 0.00001
NM_000350.3(ABCA4):c.6494A>G (p.Tyr2165Cys) rs940867738 0.00001
NM_000350.3(ABCA4):c.6499G>A (p.Val2167Ile) rs761087853 0.00001
NM_000350.3(ABCA4):c.6577T>G (p.Phe2193Val) rs1659057871 0.00001
NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter) rs372234578 0.00001
NM_000350.3(ABCA4):c.6816+6C>T rs942628802 0.00001
NM_000350.3(ABCA4):c.769-3C>T rs368010652 0.00001
NM_000350.3(ABCA4):c.772C>T (p.Pro258Ser) rs780691922 0.00001
NM_000350.3(ABCA4):c.790C>T (p.Arg264Cys) rs767947718 0.00001
NM_000350.3(ABCA4):c.853C>G (p.Gln285Glu) rs886041951 0.00001
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp) rs781716640 0.00001
NM_000350.3(ABCA4):c.919G>A (p.Gly307Ser) rs753920327 0.00001
NM_000350.3(ABCA4):c.997C>T (p.Arg333Trp) rs61748546 0.00001
NC_000001.10:g.(?_94458793)_(94528893_?)dup
NC_000001.10:g.(?_94458793)_(94586601_?)dup
NC_000001.10:g.(?_94548888)_(94549017_?)del
NM_000350.3(ABCA4):c.1013A>G (p.Asn338Ser) rs1057522235
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.1033T>G (p.Tyr345Asp) rs1661663019
NM_000350.3(ABCA4):c.1039G>T (p.Ala347Ser)
NM_000350.3(ABCA4):c.1057T>G (p.Ser353Ala) rs2101106591
NM_000350.3(ABCA4):c.1075A>G (p.Ile359Val)
NM_000350.3(ABCA4):c.1082C>G (p.Ser361Cys)
NM_000350.3(ABCA4):c.1085A>G (p.Tyr362Cys) rs1661659953
NM_000350.3(ABCA4):c.1087G>A (p.Asp363Asn) rs1661659757
NM_000350.3(ABCA4):c.1099+10C>G rs2101106468
NM_000350.3(ABCA4):c.1099+3A>C rs1570407965
NM_000350.3(ABCA4):c.10G>A (p.Val4Met)
NM_000350.3(ABCA4):c.1100-3C>T rs770191455
NM_000350.3(ABCA4):c.110T>C (p.Leu37Pro) rs2101166972
NM_000350.3(ABCA4):c.1156G>T (p.Ala386Ser) rs770754513
NM_000350.3(ABCA4):c.1169C>G (p.Ala390Gly)
NM_000350.3(ABCA4):c.1173G>T (p.Lys391Asn) rs561739905
NM_000350.3(ABCA4):c.1183A>G (p.Met395Val) rs878885399
NM_000350.3(ABCA4):c.1185G>T (p.Met395Ile)
NM_000350.3(ABCA4):c.1198T>C (p.Tyr400His) rs1661624556
NM_000350.3(ABCA4):c.1201A>G (p.Thr401Ala)
NM_000350.3(ABCA4):c.1204C>T (p.Pro402Ser) rs1281131866
NM_000350.3(ABCA4):c.1213C>T (p.Pro405Ser) rs2101104386
NM_000350.3(ABCA4):c.1241C>A (p.Ala414Asp) rs1553193893
NM_000350.3(ABCA4):c.1243A>G (p.Asn415Asp)
NM_000350.3(ABCA4):c.1262T>G (p.Leu421Arg) rs1661604529
NM_000350.3(ABCA4):c.1267C>A (p.His423Asn) rs138044729
NM_000350.3(ABCA4):c.1267_1268inv (p.His423Cys)
NM_000350.3(ABCA4):c.1274G>C (p.Arg425Thr)
NM_000350.3(ABCA4):c.1283T>A (p.Val428Asp) rs762811617
NM_000350.3(ABCA4):c.1304G>T (p.Gly435Val) rs920723783
NM_000350.3(ABCA4):c.1317G>C (p.Trp439Cys) rs61752391
NM_000350.3(ABCA4):c.1317G>T (p.Trp439Cys)
NM_000350.3(ABCA4):c.1320CTT[1] (p.Phe442del)
NM_000350.3(ABCA4):c.1325T>C (p.Phe442Ser) rs61752392
NM_000350.3(ABCA4):c.1336A>G (p.Thr446Ala)
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys) rs777078540
NM_000350.3(ABCA4):c.1348A>T (p.Met450Leu) rs2101102846
NM_000350.3(ABCA4):c.134C>T (p.Ala45Val) rs368503198
NM_000350.3(ABCA4):c.1356+4dup rs1661600677
NM_000350.3(ABCA4):c.1356+5_1356+6insT rs1553193877
NM_000350.3(ABCA4):c.1363C>A (p.Leu455Met) rs764170051
NM_000350.3(ABCA4):c.1405G>C (p.Gly469Arg) rs1661578472
NM_000350.3(ABCA4):c.1405G>T (p.Gly469Cys) rs1661578472
NM_000350.3(ABCA4):c.1410A>C (p.Glu470Asp) rs886044578
NM_000350.3(ABCA4):c.1453G>A (p.Gly485Ser) rs142362763
NM_000350.3(ABCA4):c.1456C>T (p.Pro486Ser) rs1661577313
NM_000350.3(ABCA4):c.1457_1468del (p.Pro486_Ser489del)
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln) rs145614671
NM_000350.3(ABCA4):c.1460G>C (p.Arg487Pro) rs145614671
NM_000350.3(ABCA4):c.1471G>A (p.Ala491Thr) rs757411893
NM_000350.3(ABCA4):c.1482G>A (p.Met494Ile)
NM_000350.3(ABCA4):c.1492G>C (p.Asp498His)
NM_000350.3(ABCA4):c.1501G>T (p.Asp501Tyr)
NM_000350.3(ABCA4):c.1502A>G (p.Asp501Gly) rs768480888
NM_000350.3(ABCA4):c.1510A>C (p.Asn504His) rs1243753206
NM_000350.3(ABCA4):c.1514T>C (p.Ile505Thr) rs2101100979
NM_000350.3(ABCA4):c.1523G>A (p.Arg508His)
NM_000350.3(ABCA4):c.1523_1524delinsAA (p.Arg508Gln)
NM_000350.3(ABCA4):c.1526C>T (p.Thr509Ile)
NM_000350.3(ABCA4):c.1528C>G (p.Leu510Val)
NM_000350.3(ABCA4):c.1528C>T (p.Leu510Phe) rs758584771
NM_000350.3(ABCA4):c.1538T>A (p.Val513Asp)
NM_000350.3(ABCA4):c.1546T>C (p.Tyr516His) rs2101100877
NM_000350.3(ABCA4):c.1554+5G>A rs1030394351
NM_000350.3(ABCA4):c.1554+6G>C rs2101100839
NM_000350.3(ABCA4):c.1554G>A (p.Glu518=)
NM_000350.3(ABCA4):c.1555-15T>A
NM_000350.3(ABCA4):c.1556G>A (p.Cys519Tyr)
NM_000350.3(ABCA4):c.155A>G (p.His52Arg)
NM_000350.3(ABCA4):c.1570A>G (p.Lys524Glu) rs1570394071
NM_000350.3(ABCA4):c.1573T>C (p.Phe525Leu) rs1390212030
NM_000350.3(ABCA4):c.1577A>C (p.Glu526Ala) rs1661180926
NM_000350.3(ABCA4):c.1580G>A (p.Ser527Asn) rs1484756902
NM_000350.3(ABCA4):c.158A>T (p.Glu53Val) rs1662652110
NM_000350.3(ABCA4):c.1627G>A (p.Glu543Lys)
NM_000350.3(ABCA4):c.1645G>A (p.Ala549Thr) rs61748557
NM_000350.3(ABCA4):c.1645G>T (p.Ala549Ser)
NM_000350.3(ABCA4):c.1663G>A (p.Asp555Asn) rs2101079203
NM_000350.3(ABCA4):c.1696C>A (p.His566Asn)
NM_000350.3(ABCA4):c.1700T>C (p.Val567Ala)
NM_000350.3(ABCA4):c.1706A>G (p.Tyr569Cys) rs1661176744
NM_000350.3(ABCA4):c.1712T>A (p.Ile571Asn)
NM_000350.3(ABCA4):c.1723A>C (p.Ile575Leu)
NM_000350.3(ABCA4):c.174C>G (p.Asn58Lys) rs61748524
NM_000350.3(ABCA4):c.1759A>G (p.Arg587Gly) rs1661175150
NM_000350.3(ABCA4):c.1761G>T (p.Arg587Ser) rs1661166945
NM_000350.3(ABCA4):c.1763A>T (p.Tyr588Phe) rs972888328
NM_000350.3(ABCA4):c.1786G>T (p.Asp596Tyr) rs1661166511
NM_000350.3(ABCA4):c.1792G>A (p.Val598Met) rs201838557
NM_000350.3(ABCA4):c.1825G>C (p.Ala609Pro) rs2101078330
NM_000350.3(ABCA4):c.1838A>T (p.Asp613Val) rs2101078303
NM_000350.3(ABCA4):c.1840A>G (p.Met614Val) rs749053239
NM_000350.3(ABCA4):c.1843G>C (p.Val615Leu) rs374931400
NM_000350.3(ABCA4):c.1843G>T (p.Val615Phe) rs374931400
NM_000350.3(ABCA4):c.1844T>C (p.Val615Ala) rs2101078285
NM_000350.3(ABCA4):c.1855A>T (p.Ile619Phe) rs1231688819
NM_000350.3(ABCA4):c.1865G>T (p.Ser622Ile)
NM_000350.3(ABCA4):c.1882G>A (p.Ala628Thr) rs753058962
NM_000350.3(ABCA4):c.1885C>G (p.Pro629Ala)
NM_000350.3(ABCA4):c.188C>T (p.Ser63Leu) rs2101162668
NM_000350.3(ABCA4):c.1901T>C (p.Leu634Pro)
NM_000350.3(ABCA4):c.1915T>C (p.Tyr639His) rs2101078070
NM_000350.3(ABCA4):c.1916A>G (p.Tyr639Cys) rs1570393097
NM_000350.3(ABCA4):c.1921T>C (p.Cys641Arg) rs1661159038
NM_000350.3(ABCA4):c.1921T>G (p.Cys641Gly) rs1661159038
NM_000350.3(ABCA4):c.1927G>C (p.Val643Leu) rs61749417
NM_000350.3(ABCA4):c.1932C>A (p.Asp644Glu)
NM_000350.3(ABCA4):c.1937+3G>A
NM_000350.3(ABCA4):c.1937+3G>C rs770529608
NM_000350.3(ABCA4):c.1937+4A>T
NM_000350.3(ABCA4):c.1938-18T>C
NM_000350.3(ABCA4):c.193G>A (p.Gly65Arg) rs1662604844
NM_000350.3(ABCA4):c.1944G>T (p.Met648Ile) rs770565005
NM_000350.3(ABCA4):c.1949T>C (p.Ile650Thr)
NM_000350.3(ABCA4):c.1960T>C (p.Cys654Arg) rs1661100332
NM_000350.3(ABCA4):c.1961G>A (p.Cys654Tyr)
NM_000350.3(ABCA4):c.1977G>A (p.Met659Ile) rs1661099730
NM_000350.3(ABCA4):c.1983G>A (p.Leu661=) rs373643636
NM_000350.3(ABCA4):c.2007G>C (p.Met669Ile) rs545963645
NM_000350.3(ABCA4):c.2011G>A (p.Val671Met)
NM_000350.3(ABCA4):c.2018G>T (p.Ser673Ile) rs1052151674
NM_000350.3(ABCA4):c.2032_2034del (p.Lys678del)
NM_000350.3(ABCA4):c.2036A>T (p.Glu679Val) rs1553192420
NM_000350.3(ABCA4):c.2054C>T (p.Thr685Ile) rs1661097165
NM_000350.3(ABCA4):c.2063A>T (p.Asn688Ile) rs1557786289
NM_000350.3(ABCA4):c.2069G>T (p.Gly690Val) rs942734318
NM_000350.3(ABCA4):c.2073_2079delinsACCTGGTTCA (p.Ser692_Asn693delinsProGlySer)
NM_000350.3(ABCA4):c.2075C>T (p.Ser692Phe)
NM_000350.3(ABCA4):c.2092T>C (p.Cys698Arg)
NM_000350.3(ABCA4):c.2096C>A (p.Thr699Asn) rs1057519142
NM_000350.3(ABCA4):c.2096C>T (p.Thr699Ile)
NM_000350.3(ABCA4):c.2122A>G (p.Met708Val)
NM_000350.3(ABCA4):c.2124G>T (p.Met708Ile) rs753711353
NM_000350.3(ABCA4):c.2149A>G (p.Ile717Val) rs1345184930
NM_000350.3(ABCA4):c.2153T>A (p.Phe718Tyr)
NM_000350.3(ABCA4):c.2174T>C (p.Leu725Pro) rs765683730
NM_000350.3(ABCA4):c.2185G>A (p.Asp729Asn)
NM_000350.3(ABCA4):c.2194A>G (p.Ile732Val)
NM_000350.3(ABCA4):c.2208C>A (p.Phe736Leu) rs2101069913
NM_000350.3(ABCA4):c.2210T>C (p.Leu737Ser)
NM_000350.3(ABCA4):c.2211G>T (p.Leu737Phe)
NM_000350.3(ABCA4):c.2242T>C (p.Cys748Arg) rs2101069861
NM_000350.3(ABCA4):c.2252T>C (p.Leu751Pro) rs1660994125
NM_000350.3(ABCA4):c.2255G>A (p.Ser752Asn)
NM_000350.3(ABCA4):c.2258C>A (p.Thr753Asn)
NM_000350.3(ABCA4):c.2263T>G (p.Phe755Val) rs1660993598
NM_000350.3(ABCA4):c.2278C>G (p.Leu760Val) rs886046566
NM_000350.3(ABCA4):c.2294_2295delinsAA (p.Ser765Lys) rs1660985683
NM_000350.3(ABCA4):c.2305T>C (p.Tyr769His)
NM_000350.3(ABCA4):c.2306A>G (p.Tyr769Cys) rs751408792
NM_000350.3(ABCA4):c.2310C>G (p.Phe770Leu) rs1660985145
NM_000350.3(ABCA4):c.2329A>G (p.Ile777Val) rs759110306
NM_000350.3(ABCA4):c.232A>C (p.Asn78His)
NM_000350.3(ABCA4):c.2330T>A (p.Ile777Asn) rs2101069681
NM_000350.3(ABCA4):c.233A>G (p.Asn78Ser)
NM_000350.3(ABCA4):c.2351A>G (p.Asp784Gly)
NM_000350.3(ABCA4):c.2353C>T (p.Arg785Cys) rs781254854
NM_000350.3(ABCA4):c.2354G>T (p.Arg785Leu)
NM_000350.3(ABCA4):c.2369T>G (p.Leu790Arg) rs547925462
NM_000350.3(ABCA4):c.2372A>G (p.Lys791Arg)
NM_000350.3(ABCA4):c.2377G>A (p.Ala793Thr) rs1375925632
NM_000350.3(ABCA4):c.2378C>A (p.Ala793Asp) rs2101069562
NM_000350.3(ABCA4):c.2382G>T (p.Val794=) rs2101069554
NM_000350.3(ABCA4):c.2383-13C>A
NM_000350.3(ABCA4):c.2383-6C>G
NM_000350.3(ABCA4):c.2407G>C (p.Gly803Arg) rs1660945050
NM_000350.3(ABCA4):c.2414G>A (p.Gly805Asp) rs1660944703
NM_000350.3(ABCA4):c.2441_2446del (p.Glu814_Gln815del)
NM_000350.3(ABCA4):c.2456T>A (p.Leu819Gln) rs1660943170
NM_000350.3(ABCA4):c.2478C>A (p.Asn826Lys) rs2101067799
NM_000350.3(ABCA4):c.2495A>G (p.Asp832Gly) rs1660941624
NM_000350.3(ABCA4):c.2521C>A (p.Gln841Lys)
NM_000350.3(ABCA4):c.2529G>A (p.Met843Ile) rs1660938718
NM_000350.3(ABCA4):c.2539G>T (p.Ala847Ser) rs1390658269
NM_000350.3(ABCA4):c.2557C>T (p.Leu853Phe)
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.3(ABCA4):c.2573A>G (p.Asp858Gly) rs1660936980
NM_000350.3(ABCA4):c.2578G>T (p.Val860Leu)
NM_000350.3(ABCA4):c.257C>T (p.Thr86Ile)
NM_000350.3(ABCA4):c.2587G>A (p.Gly863Arg) rs1660936469
NM_000350.3(ABCA4):c.2588-7_2588-6delinsGG
NM_000350.3(ABCA4):c.2600C>T (p.Thr867Ile) rs2101063430
NM_000350.3(ABCA4):c.2627A>C (p.Gln876Pro) rs1660843612
NM_000350.3(ABCA4):c.2633C>T (p.Ser878Leu) rs779160669
NM_000350.3(ABCA4):c.2653+5G>A rs2101063293
NM_000350.3(ABCA4):c.2654-3C>A
NM_000350.3(ABCA4):c.2654-7G>A
NM_000350.3(ABCA4):c.2657G>C (p.Cys886Ser) rs2101059884
NM_000350.3(ABCA4):c.2734G>A (p.Gly912Arg)
NM_000350.3(ABCA4):c.2748CTT[1] (p.Phe918del)
NM_000350.3(ABCA4):c.2759G>A (p.Arg920His) rs376526710
NM_000350.3(ABCA4):c.2759G>T (p.Arg920Leu)
NM_000350.3(ABCA4):c.2770G>A (p.Gly924Arg) rs2101057455
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.2788T>A (p.Cys930Ser) rs2101057418
NM_000350.3(ABCA4):c.2808G>C (p.Lys936Asn) rs1660704375
NM_000350.3(ABCA4):c.2815G>C (p.Glu939Gln)
NM_000350.3(ABCA4):c.2822G>T (p.Cys941Phe) rs113503406
NM_000350.3(ABCA4):c.2825G>T (p.Gly942Val)
NM_000350.3(ABCA4):c.2828G>T (p.Arg943Leu) rs1801581
NM_000350.3(ABCA4):c.2833G>A (p.Ala945Thr)
NM_000350.3(ABCA4):c.2852T>C (p.Ile951Thr) rs1660702072
NM_000350.3(ABCA4):c.2859C>A (p.Phe953Leu)
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.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.2887G>C (p.Gly963Arg) rs1660700735
NM_000350.3(ABCA4):c.288C>A (p.Asn96Lys) rs886039297
NM_000350.3(ABCA4):c.2900C>T (p.Ala967Val) rs1291080436
NM_000350.3(ABCA4):c.2902G>A (p.Gly968Arg) rs794727220
NM_000350.3(ABCA4):c.2925C>G (p.Ile975Met)
NM_000350.3(ABCA4):c.2927T>C (p.Leu976Pro)
NM_000350.3(ABCA4):c.2947A>T (p.Thr983Ser)
NM_000350.3(ABCA4):c.2957C>T (p.Thr986Ile) rs1660624204
NM_000350.3(ABCA4):c.2969G>T (p.Gly990Val)
NM_000350.3(ABCA4):c.2974A>G (p.Arg992Gly)
NM_000350.3(ABCA4):c.2975G>A (p.Arg992Lys)
NM_000350.3(ABCA4):c.2993T>C (p.Leu998Pro) rs1660621523
NM_000350.3(ABCA4):c.2999C>T (p.Ala1000Val) rs781780151
NM_000350.3(ABCA4):c.3016G>C (p.Gly1006Arg) rs1660620409
NM_000350.3(ABCA4):c.3017G>T (p.Gly1006Val)
NM_000350.3(ABCA4):c.302+5G>C
NM_000350.3(ABCA4):c.303-19T>G
NM_000350.3(ABCA4):c.3039_3041dup (p.Leu1014_Phe1015insLeu) rs1660619507
NM_000350.3(ABCA4):c.3050+363_3050+390del
NM_000350.3(ABCA4):c.3050+4dup rs2101053365
NM_000350.3(ABCA4):c.3051-16T>A rs1064793009
NM_000350.3(ABCA4):c.3051-3T>C
NM_000350.3(ABCA4):c.3070A>G (p.Met1024Val)
NM_000350.3(ABCA4):c.3071T>A (p.Met1024Lys) rs2101051584
NM_000350.3(ABCA4):c.3073C>G (p.Leu1025Val)
NM_000350.3(ABCA4):c.3074T>C (p.Leu1025Pro) rs1660575947
NM_000350.3(ABCA4):c.3083C>T (p.Ala1028Val) rs121909204
NM_000350.3(ABCA4):c.3119T>C (p.Leu1040Pro)
NM_000350.3(ABCA4):c.3121G>C (p.Glu1041Gln)
NM_000350.3(ABCA4):c.3172G>C (p.Glu1058Gln) rs1265535267
NM_000350.3(ABCA4):c.3175G>T (p.Ala1059Ser)
NM_000350.3(ABCA4):c.3191G>A (p.Gly1064Asp) rs2101050759
NM_000350.3(ABCA4):c.319C>G (p.Arg107Gly)
NM_000350.3(ABCA4):c.3219_3220insGCA (p.Ala1073_Ile1074insAla) rs2101050681
NM_000350.3(ABCA4):c.3235G>A (p.Asp1079Asn)
NM_000350.3(ABCA4):c.3258C>G (p.Asp1086Glu)
NM_000350.3(ABCA4):c.3262C>T (p.Pro1088Ser) rs1553190579
NM_000350.3(ABCA4):c.3268T>C (p.Ser1090Pro) rs1131691351
NM_000350.3(ABCA4):c.3272G>T (p.Gly1091Val)
NM_000350.3(ABCA4):c.3305A>C (p.Asp1102Ala) rs143689372
NM_000350.3(ABCA4):c.3318G>T (p.Lys1106Asn)
NM_000350.3(ABCA4):c.3329-3C>A rs2101048782
NM_000350.3(ABCA4):c.3358_3363del (p.Met1120_Asp1121del)
NM_000350.3(ABCA4):c.3361G>C (p.Asp1121His) rs2101048716
NM_000350.3(ABCA4):c.3363C>A (p.Asp1121Glu)
NM_000350.3(ABCA4):c.3371A>G (p.Asp1124Gly) rs1660481445
NM_000350.3(ABCA4):c.3376C>G (p.Leu1126Val) rs1660481292
NM_000350.3(ABCA4):c.3395T>C (p.Ile1132Thr)
NM_000350.3(ABCA4):c.3434T>G (p.Leu1145Arg) rs1660479149
NM_000350.3(ABCA4):c.3506A>G (p.Gln1169Arg)
NM_000350.3(ABCA4):c.3518G>A (p.Ser1173Asn) rs1210484040
NM_000350.3(ABCA4):c.3523-3C>G
NM_000350.3(ABCA4):c.3533G>A (p.Ser1178Asn) rs760620913
NM_000350.3(ABCA4):c.3545A>G (p.Lys1182Arg)
NM_000350.3(ABCA4):c.3557C>T (p.Thr1186Ile)
NM_000350.3(ABCA4):c.3560C>A (p.Thr1187Lys) rs1266156413
NM_000350.3(ABCA4):c.3575T>C (p.Val1192Ala) rs1370609179
NM_000350.3(ABCA4):c.3579T>A (p.Asp1193Glu)
NM_000350.3(ABCA4):c.3582C>A (p.Asp1194Glu) rs886038285
NM_000350.3(ABCA4):c.3598G>C (p.Val1200Leu)
NM_000350.3(ABCA4):c.3606T>A (p.Asp1202Glu) rs2101046910
NM_000350.3(ABCA4):c.3866G>A (p.Gly1289Asp) rs745511918
NM_000350.3(ABCA4):c.3899G>T (p.Arg1300Leu)
NM_000350.3(ABCA4):c.389A>G (p.His130Arg)
NM_000350.3(ABCA4):c.389_394del (p.His130_Ile131del) rs1662505763
NM_000350.3(ABCA4):c.3924G>C (p.Glu1308Asp)
NM_000350.3(ABCA4):c.392T>C (p.Ile131Thr)
NM_000350.3(ABCA4):c.3946G>T (p.Asp1316Tyr)
NM_000350.3(ABCA4):c.3971C>A (p.Ala1324Glu) rs369361520
NM_000350.3(ABCA4):c.3977C>G (p.Ala1326Gly) rs761989194
NM_000350.3(ABCA4):c.3999_4000insACCCCAGAGCCAGAGTGCCAGCCT (p.Pro1333_Pro1334insThrProGluProGluCysGlnPro) rs1660216238
NM_000350.3(ABCA4):c.4006G>C (p.Glu1336Gln)
NM_000350.3(ABCA4):c.4008G>T (p.Glu1336Asp) rs772961093
NM_000350.3(ABCA4):c.4040G>A (p.Gly1347Glu)
NM_000350.3(ABCA4):c.4061A>C (p.His1354Pro) rs2101036888
NM_000350.3(ABCA4):c.4067A>C (p.Gln1356Pro) rs994570602
NM_000350.3(ABCA4):c.406A>G (p.Met136Val) rs1372134179
NM_000350.3(ABCA4):c.4079T>A (p.Val1360Asp) rs1660213080
NM_000350.3(ABCA4):c.4092A>C (p.Gln1364His) rs1660212835
NM_000350.3(ABCA4):c.4129A>G (p.Ile1377Val) rs1327707460
NM_000350.3(ABCA4):c.4129A>T (p.Ile1377Phe)
NM_000350.3(ABCA4):c.4131C>A (p.Ile1377=) rs145681797
NM_000350.3(ABCA4):c.4136T>C (p.Leu1379Pro) rs1660190269
NM_000350.3(ABCA4):c.4145C>T (p.Thr1382Ile) rs1660189911
NM_000350.3(ABCA4):c.4159G>A (p.Ala1387Thr)
NM_000350.3(ABCA4):c.415C>T (p.Leu139Phe) rs983831765
NM_000350.3(ABCA4):c.4166T>A (p.Met1389Lys)
NM_000350.3(ABCA4):c.4184C>T (p.Pro1395Leu) rs1047379
NM_000350.3(ABCA4):c.419G>C (p.Arg140Pro) rs369105023
NM_000350.3(ABCA4):c.4201C>G (p.Pro1401Ala) rs1305455299
NM_000350.3(ABCA4):c.4204G>T (p.Ala1402Ser) rs554101094
NM_000350.3(ABCA4):c.4216C>G (p.His1406Asp)
NM_000350.3(ABCA4):c.4220C>T (p.Pro1407Leu) rs1064797091
NM_000350.3(ABCA4):c.4228T>G (p.Tyr1410Asp) rs1660186211
NM_000350.3(ABCA4):c.4229A>G (p.Tyr1410Cys) rs1660186110
NM_000350.3(ABCA4):c.4232G>A (p.Gly1411Glu)
NM_000350.3(ABCA4):c.4239G>C (p.Gln1413His) rs1201535434
NM_000350.3(ABCA4):c.424C>T (p.His142Tyr) rs1085307835
NM_000350.3(ABCA4):c.4252A>G (p.Ser1418Gly) rs2101035661
NM_000350.3(ABCA4):c.4253+3G>C rs1660184848
NM_000350.3(ABCA4):c.4254-5T>A
NM_000350.3(ABCA4):c.4254-5T>G rs886044551
NM_000350.3(ABCA4):c.4264C>T (p.Pro1422Ser) rs2101035052
NM_000350.3(ABCA4):c.4268G>A (p.Gly1423Asp) rs2101035044
NM_000350.3(ABCA4):c.434G>C (p.Arg145Thr)
NM_000350.3(ABCA4):c.4352+2dup rs2101034860
NM_000350.3(ABCA4):c.4352+4A>G
NM_000350.3(ABCA4):c.4352+5G>T rs1660166597
NM_000350.3(ABCA4):c.4356G>T (p.Glu1452Asp)
NM_000350.3(ABCA4):c.4391C>T (p.Pro1464Leu) rs761652443
NM_000350.3(ABCA4):c.4396G>T (p.Val1466Leu)
NM_000350.3(ABCA4):c.4406A>C (p.Asn1469Thr)
NM_000350.3(ABCA4):c.4406A>G (p.Asn1469Ser) rs745321062
NM_000350.3(ABCA4):c.4414C>G (p.Gln1472Glu)
NM_000350.3(ABCA4):c.442+6C>A rs1287680518
NM_000350.3(ABCA4):c.4426A>G (p.Lys1476Glu)
NM_000350.3(ABCA4):c.4444G>A (p.Val1482Ile)
NM_000350.3(ABCA4):c.445A>G (p.Arg149Gly)
NM_000350.3(ABCA4):c.4460C>G (p.Ser1487Cys) rs2101033592
NM_000350.3(ABCA4):c.4478G>A (p.Arg1493Lys)
NM_000350.3(ABCA4):c.4480G>A (p.Glu1494Lys) rs745454563
NM_000350.3(ABCA4):c.4498C>T (p.Pro1500Ser)
NM_000350.3(ABCA4):c.449G>A (p.Gly150Glu)
NM_000350.3(ABCA4):c.4519G>T (p.Gly1507Trp) rs568792949
NM_000350.3(ABCA4):c.4523G>T (p.Gly1508Val) rs2101033431
NM_000350.3(ABCA4):c.452T>C (p.Ile151Thr) rs1012017728
NM_000350.3(ABCA4):c.4531C>T (p.Pro1511Ser)
NM_000350.3(ABCA4):c.4535C>A (p.Pro1512His) rs61750150
NM_000350.3(ABCA4):c.4535C>G (p.Pro1512Arg) rs61750150
NM_000350.3(ABCA4):c.4535C>T (p.Pro1512Leu) rs61750150
NM_000350.3(ABCA4):c.4537C>A (p.Gln1513Lys) rs759373898
NM_000350.3(ABCA4):c.4537C>G (p.Gln1513Glu)
NM_000350.3(ABCA4):c.4539G>C (p.Gln1513His)
NM_000350.3(ABCA4):c.4540-5C>G rs1476415689
NM_000350.3(ABCA4):c.4544C>G (p.Thr1515Arg)
NM_000350.3(ABCA4):c.4546C>A (p.Gln1516Lys)
NM_000350.3(ABCA4):c.4568A>G (p.Gln1523Arg) rs2101027761
NM_000350.3(ABCA4):c.457A>G (p.Ile153Val) rs1662330621
NM_000350.3(ABCA4):c.4581C>G (p.Asp1527Glu)
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser) rs1557770154
NM_000350.3(ABCA4):c.4601T>G (p.Leu1534Trp) rs1659998732
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.4615C>A (p.Pro1539Thr)
NM_000350.3(ABCA4):c.4632C>G (p.Ser1544Arg) rs750046422
NM_000350.3(ABCA4):c.4634+6A>G rs1659996871
NM_000350.3(ABCA4):c.4638A>C (p.Leu1546Phe)
NM_000350.3(ABCA4):c.4659T>A (p.Asn1553Lys) rs1354737408
NM_000350.3(ABCA4):c.4667+3A>G rs1659953116
NM_000350.3(ABCA4):c.4668-11_4668-4del rs2101024257
NM_000350.3(ABCA4):c.477T>G (p.Asp159Glu) rs767738064
NM_000350.3(ABCA4):c.489_494del (p.162TL[1]) rs2101143761
NM_000350.3(ABCA4):c.5019-3_5019-2insCAGTGG
NM_000350.3(ABCA4):c.5024C>T (p.Thr1675Ile) rs375156009
NM_000350.3(ABCA4):c.5032G>T (p.Val1678Leu) rs1659845637
NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe) rs201996979
NM_000350.3(ABCA4):c.5081C>T (p.Pro1694Leu)
NM_000350.3(ABCA4):c.5090T>G (p.Phe1697Cys)
NM_000350.3(ABCA4):c.5095C>T (p.Leu1699Phe)
NM_000350.3(ABCA4):c.50T>C (p.Leu17Pro) rs1322362097
NM_000350.3(ABCA4):c.5116G>A (p.Val1706Met)
NM_000350.3(ABCA4):c.5116G>T (p.Val1706Leu) rs1044818989
NM_000350.3(ABCA4):c.511A>T (p.Ile171Phe) rs765059735
NM_000350.3(ABCA4):c.5121C>A (p.Asn1707Lys) rs886046562
NM_000350.3(ABCA4):c.5150G>A (p.Gly1717Glu) rs1448246859
NM_000350.3(ABCA4):c.5171G>C (p.Trp1724Ser) rs1571256634
NM_000350.3(ABCA4):c.5192A>T (p.Asp1731Val) rs2101020581
NM_000350.3(ABCA4):c.5194A>T (p.Ile1732Phe) rs2101020577
NM_000350.3(ABCA4):c.5196+6T>C rs1226023826
NM_000350.3(ABCA4):c.5199G>A (p.Met1733Ile)
NM_000350.3(ABCA4):c.5213G>A (p.Ser1738Asn) rs2101015576
NM_000350.3(ABCA4):c.5219G>A (p.Gly1740Glu) rs794727593
NM_000350.3(ABCA4):c.5231G>A (p.Gly1744Asp)
NM_000350.3(ABCA4):c.5234T>A (p.Ile1745Asn) rs1232880489
NM_000350.3(ABCA4):c.5242G>T (p.Gly1748Trp)
NM_000350.3(ABCA4):c.5258C>T (p.Ala1753Val) rs1249295549
NM_000350.3(ABCA4):c.5264C>T (p.Thr1755Ile)
NM_000350.3(ABCA4):c.5281_5289del (p.Pro1761_Leu1763del) rs61753027
NM_000350.3(ABCA4):c.5312+5_5312+14del rs2101015335
NM_000350.3(ABCA4):c.5313-5C>G rs1659674840
NM_000350.3(ABCA4):c.5333T>G (p.Met1778Arg) rs748706582
NM_000350.3(ABCA4):c.535T>C (p.Tyr179His) rs1662327014
NM_000350.3(ABCA4):c.5405T>C (p.Ile1802Thr)
NM_000350.3(ABCA4):c.5420G>C (p.Ser1807Thr) rs761435921
NM_000350.3(ABCA4):c.5444T>C (p.Leu1815Ser)
NM_000350.3(ABCA4):c.5457C>G (p.Asn1819Lys) rs1181315221
NM_000350.3(ABCA4):c.5458C>T (p.Arg1820Trp)
NM_000350.3(ABCA4):c.5459G>C (p.Arg1820Pro) rs62646875
NM_000350.3(ABCA4):c.5460+6C>T rs886046561
NM_000350.3(ABCA4):c.5461A>G (p.Thr1821Ala) rs2101008570
NM_000350.3(ABCA4):c.5498T>G (p.Leu1833Arg)
NM_000350.3(ABCA4):c.5506T>C (p.Phe1836Leu) rs370698226
NM_000350.3(ABCA4):c.5510C>T (p.Pro1837Leu) rs1571250077
NM_000350.3(ABCA4):c.5519G>A (p.Cys1840Tyr) rs946348819
NM_000350.3(ABCA4):c.5519G>C (p.Cys1840Ser) rs946348819
NM_000350.3(ABCA4):c.5521_5522delinsTG (p.Leu1841Trp)
NM_000350.3(ABCA4):c.5525G>A (p.Gly1842Asp) rs2101008402
NM_000350.3(ABCA4):c.5528G>A (p.Arg1843Gln)
NM_000350.3(ABCA4):c.5531G>A (p.Gly1844Asp) rs1659540498
NM_000350.3(ABCA4):c.5531_5557dup (p.Gln1852_Ala1853insGlyLeuIleAspLeuAlaLeuSerGln)
NM_000350.3(ABCA4):c.5533C>A (p.Leu1845Ile)
NM_000350.3(ABCA4):c.553C>G (p.Gln185Glu)
NM_000350.3(ABCA4):c.5542C>T (p.Leu1848Phe) rs2101008340
NM_000350.3(ABCA4):c.5584G>A (p.Gly1862Ser) rs1659538637
NM_000350.3(ABCA4):c.5587G>A (p.Glu1863Lys) rs774570747
NM_000350.3(ABCA4):c.5648T>G (p.Val1883Gly)
NM_000350.3(ABCA4):c.5665T>A (p.Tyr1889Asn) rs1659523810
NM_000350.3(ABCA4):c.5672_5673delinsCT (p.Leu1891Pro) rs2101007491
NM_000350.3(ABCA4):c.5695C>T (p.His1899Tyr)
NM_000350.3(ABCA4):c.570+5G>T rs1014460684
NM_000350.3(ABCA4):c.5714+5G>T rs61751407
NM_000350.3(ABCA4):c.5715-5T>G
NM_000350.3(ABCA4):c.5756A>T (p.Asp1919Val)
NM_000350.3(ABCA4):c.5759A>T (p.Asp1920Val)
NM_000350.3(ABCA4):c.577C>T (p.His193Tyr)
NM_000350.3(ABCA4):c.578A>C (p.His193Pro)
NM_000350.3(ABCA4):c.578A>T (p.His193Leu) rs146117175
NM_000350.3(ABCA4):c.5810T>G (p.Ile1937Ser) rs765282381
NM_000350.3(ABCA4):c.5836-7C>T rs886042784
NM_000350.3(ABCA4):c.5851T>C (p.Ser1951Pro)
NM_000350.3(ABCA4):c.5872C>G (p.Leu1958Val)
NM_000350.3(ABCA4):c.5876G>A (p.Cys1959Tyr) rs2101004162
NM_000350.3(ABCA4):c.587C>G (p.Pro196Arg)
NM_000350.3(ABCA4):c.5880C>T (p.Val1960=) rs746250336
NM_000350.3(ABCA4):c.5887C>T (p.Arg1963Cys)
NM_000350.3(ABCA4):c.5888G>T (p.Arg1963Leu) rs758431657
NM_000350.3(ABCA4):c.5899-3T>C
NM_000350.3(ABCA4):c.589G>A (p.Asp197Asn)
NM_000350.3(ABCA4):c.58A>G (p.Arg20Gly) rs1662934886
NM_000350.3(ABCA4):c.590A>C (p.Asp197Ala) rs1662216089
NM_000350.3(ABCA4):c.5921A>G (p.Asn1974Ser) rs1659429852
NM_000350.3(ABCA4):c.5922T>A (p.Asn1974Lys)
NM_000350.3(ABCA4):c.5935A>G (p.Thr1979Ala) rs1571247308
NM_000350.3(ABCA4):c.5959G>A (p.Gly1987Arg) rs777300047
NM_000350.3(ABCA4):c.595G>A (p.Ala199Thr) rs746039623
NM_000350.3(ABCA4):c.5981G>A (p.Gly1994Glu)
NM_000350.3(ABCA4):c.6000C>T (p.Gly2000=)
NM_000350.3(ABCA4):c.6005+5G>A rs1331785486
NM_000350.3(ABCA4):c.6006-3C>A rs767972465
NM_000350.3(ABCA4):c.6017A>G (p.Asn2006Ser) rs2101000596
NM_000350.3(ABCA4):c.6019A>G (p.Ile2007Val)
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) rs1659353934
NM_000350.3(ABCA4):c.6125_6126delinsGT (p.Val2042Gly) rs2101000336
NM_000350.3(ABCA4):c.6127C>A (p.Pro2043Thr) rs763230559
NM_000350.3(ABCA4):c.6142G>A (p.Glu2048Lys)
NM_000350.3(ABCA4):c.6146A>G (p.Lys2049Arg) rs760481450
NM_000350.3(ABCA4):c.6161G>T (p.Ser2054Ile)
NM_000350.3(ABCA4):c.6167A>G (p.Lys2056Arg)
NM_000350.3(ABCA4):c.6176G>A (p.Gly2059Asp)
NM_000350.3(ABCA4):c.6184G>C (p.Val2062Leu) rs1322454000
NM_000350.3(ABCA4):c.6193G>A (p.Asp2065Asn) rs886043588
NM_000350.3(ABCA4):c.6193G>C (p.Asp2065His) rs886043588
NM_000350.3(ABCA4):c.6206G>A (p.Gly2069Asp) rs2100995579
NM_000350.3(ABCA4):c.6208_6209delinsCA (p.Thr2070Gln) rs1659197672
NM_000350.3(ABCA4):c.6211T>A (p.Tyr2071Asn) rs1659197227
NM_000350.3(ABCA4):c.6211T>G (p.Tyr2071Asp) rs1659197227
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6216T>G (p.Ser2072Arg) rs758795465
NM_000350.3(ABCA4):c.6234A>C (p.Lys2078Asn) rs1659195585
NM_000350.3(ABCA4):c.6236T>A (p.Leu2079His) rs2100995477
NM_000350.3(ABCA4):c.6253C>T (p.Leu2085Phe)
NM_000350.3(ABCA4):c.6269C>A (p.Pro2090Gln)
NM_000350.3(ABCA4):c.6282+2dup rs2100995400
NM_000350.3(ABCA4):c.6283-3C>A
NM_000350.3(ABCA4):c.6283-3C>T
NM_000350.3(ABCA4):c.6292A>G (p.Thr2098Ala) rs2100994088
NM_000350.3(ABCA4):c.6299G>A (p.Gly2100Glu) rs2100994077
NM_000350.3(ABCA4):c.6302T>G (p.Met2101Arg) rs1659161479
NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His) rs2100994049
NM_000350.3(ABCA4):c.6311A>G (p.Gln2104Arg) rs1659161167
NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser) rs2297669
NM_000350.3(ABCA4):c.6334G>A (p.Val2112Ile) rs571031879
NM_000350.3(ABCA4):c.6334G>C (p.Val2112Leu) rs571031879
NM_000350.3(ABCA4):c.6370G>A (p.Val2124Ile)
NM_000350.3(ABCA4):c.6377C>T (p.Thr2126Ile) rs2100993899
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro) rs2100993895
NM_000350.3(ABCA4):c.6386+3A>C rs2100993868
NM_000350.3(ABCA4):c.6398G>C (p.Cys2133Ser)
NM_000350.3(ABCA4):c.6401A>G (p.Glu2134Gly) rs2100993742
NM_000350.3(ABCA4):c.6402G>C (p.Glu2134Asp) rs2100993738
NM_000350.3(ABCA4):c.6404C>T (p.Ala2135Val) rs1659154841
NM_000350.3(ABCA4):c.6407T>C (p.Leu2136Pro) rs2100993718
NM_000350.3(ABCA4):c.641T>A (p.Ile214Asn) rs1662213265
NM_000350.3(ABCA4):c.6422C>T (p.Ala2141Val)
NM_000350.3(ABCA4):c.6426C>G (p.Ile2142Met) rs1184801813
NM_000350.3(ABCA4):c.643A>G (p.Ile215Val)
NM_000350.3(ABCA4):c.6451A>T (p.Met2151Leu) rs1345664981
NM_000350.3(ABCA4):c.6490G>A (p.Gly2164Ser) rs1395925042
NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg) rs886044762
NM_000350.3(ABCA4):c.6521C>T (p.Pro2174Leu) rs756641536
NM_000350.3(ABCA4):c.6536T>C (p.Leu2179Pro) rs2100988269
NM_000350.3(ABCA4):c.6569A>G (p.Gln2190Arg)
NM_000350.3(ABCA4):c.66+3A>C rs781460114
NM_000350.3(ABCA4):c.6604C>G (p.His2202Asp)
NM_000350.3(ABCA4):c.6616C>T (p.Leu2206Phe)
NM_000350.3(ABCA4):c.6620A>C (p.Gln2207Pro) rs565752959
NM_000350.3(ABCA4):c.6647C>G (p.Ala2216Gly) rs886044763
NM_000350.3(ABCA4):c.665C>T (p.Ala222Val) rs2101135772
NM_000350.3(ABCA4):c.6691A>G (p.Ile2231Val)
NM_000350.3(ABCA4):c.6694G>A (p.Glu2232Lys) rs774350716
NM_000350.3(ABCA4):c.67-2830C>T
NM_000350.3(ABCA4):c.6703T>C (p.Ser2235Pro)
NM_000350.3(ABCA4):c.6712_6713insTGAGTACCACAC (p.Thr2237_Gln2238insLeuSerThrThr)
NM_000350.3(ABCA4):c.675G>A (p.Val225=)
NM_000350.3(ABCA4):c.6766C>A (p.His2256Asn) rs1658994254
NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser) rs149780335
NM_000350.3(ABCA4):c.676C>T (p.Arg226Cys) rs149780335
NM_000350.3(ABCA4):c.6772C>A (p.Leu2258Ile) rs757212387
NM_000350.3(ABCA4):c.6775C>T (p.Pro2259Ser)
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.6785C>G (p.Pro2262Arg) rs1283482726
NM_000350.3(ABCA4):c.6802A>C (p.Ser2268Arg) rs1658992799
NM_000350.3(ABCA4):c.6815A>G (p.Gln2272Arg) rs761134287
NM_000350.3(ABCA4):c.692C>T (p.Ser231Phe) rs1425185788
NM_000350.3(ABCA4):c.746A>G (p.Asp249Gly) rs62646865
NM_000350.3(ABCA4):c.758T>C (p.Leu253Pro)
NM_000350.3(ABCA4):c.760T>C (p.Phe254Leu) rs1662206970
NM_000350.3(ABCA4):c.768+3A>T rs2101135379
NM_000350.3(ABCA4):c.769-5431G>A
NM_000350.3(ABCA4):c.769-784C>T
NM_000350.3(ABCA4):c.769-7A>G rs1661754905
NM_000350.3(ABCA4):c.799G>T (p.Gly267Cys)
NM_000350.3(ABCA4):c.806A>G (p.Asn269Ser) rs1338260475
NM_000350.3(ABCA4):c.814T>A (p.Ser272Thr)
NM_000350.3(ABCA4):c.818G>T (p.Trp273Leu) rs1388510409
NM_000350.3(ABCA4):c.835G>A (p.Asp279Asn)
NM_000350.3(ABCA4):c.858+4dup rs1661749792
NM_000350.3(ABCA4):c.870G>A (p.Arg290=) rs794727902
NM_000350.3(ABCA4):c.883G>A (p.Asp295Asn) rs2101107071
NM_000350.3(ABCA4):c.885C>G (p.Asp295Glu) rs1553194068
NM_000350.3(ABCA4):c.910A>T (p.Met304Leu) rs755078118
NM_000350.3(ABCA4):c.948G>A (p.Met316Ile)
NM_000350.3(ABCA4):c.956T>G (p.Leu319Arg) rs886044723
NM_000350.3(ABCA4):c.962A>G (p.Asp321Gly)
NM_000350.3(ABCA4):c.964C>A (p.Leu322Ile) rs1409497477
NM_000350.3(ABCA4):c.974G>T (p.Gly325Val)
NM_000350.3(ABCA4):c.991G>A (p.Gly331Ser)

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