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: 1072
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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.5843C>T (p.Pro1948Leu) rs56142141 0.03191
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
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.*136G>A rs55665437 0.00448
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
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.4352+14C>T rs75359153 0.00325
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174 0.00246
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963 0.00243
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.6255C>T (p.Leu2085=) rs61748519 0.00185
NM_000350.3(ABCA4):c.2588-12C>G rs61751396 0.00183
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu) rs138682163 0.00183
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_000350.3(ABCA4):c.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.4128+11C>T rs202102586 0.00148
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00133
NM_000350.3(ABCA4):c.3328+18G>A rs187354107 0.00129
NM_000350.3(ABCA4):c.4539+2084C>T rs371968492 0.00123
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148 0.00120
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=) rs141004967 0.00112
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919 0.00100
NM_000350.3(ABCA4):c.4467G>T (p.Arg1489Ser) rs140952412 0.00098
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=) rs139050119 0.00097
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454 0.00089
NM_000350.3(ABCA4):c.4129-17C>T rs200194007 0.00088
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.3547G>T (p.Gly1183Cys) rs75267647 0.00066
NM_000350.3(ABCA4):c.4352+13G>A rs61754048 0.00059
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057 0.00054
NM_000350.3(ABCA4):c.3468C>T (p.Tyr1156=) rs113698006 0.00053
NM_000350.3(ABCA4):c.*299G>C rs538804441 0.00048
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.*23C>T rs200401067 0.00039
NM_000350.3(ABCA4):c.4353-4T>C rs375886479 0.00039
NM_000350.3(ABCA4):c.5312+11T>C rs769863517 0.00039
NM_000350.3(ABCA4):c.1240-8G>C rs185225547 0.00038
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=) rs143263315 0.00037
NM_000350.3(ABCA4):c.4352+15G>A rs139611589 0.00036
NM_000350.3(ABCA4):c.5992G>A (p.Val1998Ile) rs147870733 0.00036
NM_000350.3(ABCA4):c.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.2383-12G>A rs368548294 0.00031
NM_000350.3(ABCA4):c.140C>T (p.Pro47Leu) rs143207212 0.00030
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.2744-5C>T rs76305791 0.00028
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.1155C>T (p.Ile385=) rs376624031 0.00022
NM_000350.3(ABCA4):c.5606C>T (p.Pro1869Leu) rs376925793 0.00022
NM_000350.3(ABCA4):c.3568G>A (p.Ala1190Thr) rs368692594 0.00021
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.1592A>G (p.Glu531Gly) rs145718830 0.00020
NM_000350.3(ABCA4):c.2473G>A (p.Gly825Arg) rs368367104 0.00019
NM_000350.3(ABCA4):c.4128+16G>A rs61783968 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000350.3(ABCA4):c.3607+13C>T rs374630957 0.00017
NM_000350.3(ABCA4):c.*147C>T rs773349580 0.00016
NM_000350.3(ABCA4):c.5312+8G>A rs187953772 0.00016
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424 0.00014
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.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_000350.3(ABCA4):c.6560A>G (p.Gln2187Arg) rs1339233014 0.00014
NM_000350.3(ABCA4):c.741C>T (p.Asn247=) rs372976742 0.00013
NM_000350.3(ABCA4):c.5076C>T (p.Phe1692=) rs148351929 0.00012
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885 0.00011
NM_000350.3(ABCA4):c.1544A>G (p.Gln515Arg) rs372838089 0.00011
NM_000350.3(ABCA4):c.3329-11C>T rs367580653 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.3285C>T (p.Tyr1095=) rs570745701 0.00010
NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala) rs779585931 0.00010
NM_000350.3(ABCA4):c.2431C>T (p.Arg811Cys) rs758777521 0.00009
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.2517C>T (p.Ser839=) rs138246242 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.2743+12A>C rs559119402 0.00006
NM_000350.3(ABCA4):c.302+68C>T rs761188244 0.00006
NM_000350.3(ABCA4):c.3184C>A (p.Leu1062Ile) rs966434923 0.00006
NM_000350.3(ABCA4):c.3523-9C>G rs374302531 0.00006
NM_000350.3(ABCA4):c.3940C>A (p.Pro1314Thr) rs61754041 0.00006
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_000350.3(ABCA4):c.5197-4C>T rs758825834 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.1251T>C (p.Thr417=) rs374336459 0.00005
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.6282+9G>A rs758705900 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.*228A>T rs896637585 0.00004
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.1477G>A (p.Asp493Asn) rs541850518 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.2487G>A (p.Thr829=) rs770089512 0.00004
NM_000350.3(ABCA4):c.2924T>C (p.Ile975Thr) rs146140442 0.00004
NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln) rs759799179 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.3974C>T (p.Pro1325Leu) rs371582683 0.00004
NM_000350.3(ABCA4):c.4025C>T (p.Pro1342Leu) rs981447805 0.00004
NM_000350.3(ABCA4):c.4128+12G>A rs746262766 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.4539+2028C>T rs869320785 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.5241C>T (p.Ile1747=) rs548431469 0.00004
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=) rs202199507 0.00004
NM_000350.3(ABCA4):c.5479G>A (p.Ala1827Thr) rs530098237 0.00004
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu) rs374687000 0.00004
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=) rs191506332 0.00004
NM_000350.3(ABCA4):c.575C>T (p.Ala192Val) rs185729337 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.6319C>T (p.Arg2107Cys) rs2297669 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.847A>G (p.Arg283Gly) rs141802200 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.1492G>A (p.Asp498Asn) rs750836609 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.1937+15C>T rs774567553 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.5413A>G (p.Asn1805Asp) rs61753029 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.997C>T (p.Arg333Trp) rs61748546 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.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.2827C>T (p.Arg943Trp) rs61749446 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.3063T>G (p.Ala1021=) rs886046565 0.00002
NM_000350.3(ABCA4):c.3291A>G (p.Arg1097=) rs61750118 0.00002
NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys) rs779426136 0.00002
NM_000350.3(ABCA4):c.3449G>A (p.Cys1150Tyr) rs375783686 0.00002
NM_000350.3(ABCA4):c.3540G>A (p.Ser1180=) rs767212006 0.00002
NM_000350.3(ABCA4):c.371G>A (p.Arg124His) rs769541140 0.00002
NM_000350.3(ABCA4):c.3867C>T (p.Gly1289=) rs573418899 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.4140G>A (p.Pro1380=) rs139109485 0.00002
NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=) rs763857670 0.00002
NM_000350.3(ABCA4):c.4248C>A (p.Phe1416Leu) rs1480701186 0.00002
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr) rs142673376 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.5051T>A (p.Ile1684Asn) rs769711425 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.6579C>T (p.Phe2193=) rs763108716 0.00002
NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys) rs62645942 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.945G>A (p.Leu315=) rs764002833 0.00002
NM_000350.3(ABCA4):c.*284T>C rs1658908697 0.00001
NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu) rs886044724 0.00001
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420 0.00001
NM_000350.3(ABCA4):c.1037A>C (p.Lys346Thr) rs61752389 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.1099+12G>T rs756258615 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.1821G>A (p.Gly607=) rs201059645 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.2023G>A (p.Val675Ile) rs575453437 0.00001
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397 0.00001
NM_000350.3(ABCA4):c.2042G>A (p.Arg681Gln) rs761380652 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.2401G>A (p.Ala801Thr) rs374410829 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.2654-6G>A rs759220318 0.00001
NM_000350.3(ABCA4):c.2654-8T>G rs765263670 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.2743+11G>A rs1368571528 0.00001
NM_000350.3(ABCA4):c.2744-402G>A rs1251023127 0.00001
NM_000350.3(ABCA4):c.2758C>T (p.Arg920Cys) rs533451778 0.00001
NM_000350.3(ABCA4):c.275G>A (p.Gly92Glu) rs1156558540 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.2919-10T>C rs886044733 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.3005G>A (p.Arg1002Gln) rs752000268 0.00001
NM_000350.3(ABCA4):c.3008A>G (p.Gln1003Arg) rs764324152 0.00001
NM_000350.3(ABCA4):c.3059T>A (p.Val1020Glu) rs112300381 0.00001
NM_000350.3(ABCA4):c.306G>T (p.Leu102Phe) rs1054538871 0.00001
NM_000350.3(ABCA4):c.3096A>G (p.Gly1032=) rs778400379 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.3194G>A (p.Gly1065Asp) rs886039300 0.00001
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg) rs775661924 0.00001
NM_000350.3(ABCA4):c.331G>C (p.Glu111Gln) rs766512063 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.3900A>G (p.Arg1300=) rs886044739 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.3996G>T (p.Gln1332His) rs765176802 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.4069G>A (p.Ala1357Thr) rs754899711 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.4329C>T (p.Arg1443=) rs374344839 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.4416G>A (p.Gln1472=) rs780663071 0.00001
NM_000350.3(ABCA4):c.4506C>T (p.Cys1502=) rs61750149 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.4518C>T (p.Ala1506=) rs146011912 0.00001
NM_000350.3(ABCA4):c.4529C>T (p.Pro1510Leu) rs756106154 0.00001
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=) rs774957381 0.00001
NM_000350.3(ABCA4):c.4593C>T (p.Ser1531=) rs746070443 0.00001
NM_000350.3(ABCA4):c.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.5026A>T (p.Thr1676Ser) rs753489583 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.5305C>A (p.Leu1769Met) rs1274228304 0.00001
NM_000350.3(ABCA4):c.5361C>T (p.Val1787=) rs757545714 0.00001
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val) rs1188515677 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.5593C>T (p.His1865Tyr) rs201707267 0.00001
NM_000350.3(ABCA4):c.5618A>G (p.Asp1873Gly) rs778550733 0.00001
NM_000350.3(ABCA4):c.5645T>C (p.Met1882Thr) rs780817685 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.5737C>A (p.Pro1913Thr) rs1394332810 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.5973G>C (p.Val1991=) rs886044757 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.6250G>A (p.Ala2084Thr) rs1250914690 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.733T>C (p.Tyr245His) rs201136017 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
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.*254C>A rs1658910109
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.1034A>G (p.Tyr345Cys) rs1417184535
NM_000350.3(ABCA4):c.1039G>T (p.Ala347Ser)
NM_000350.3(ABCA4):c.1057T>C (p.Ser353Pro)
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.1142C>T (p.Pro381Leu)
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.1240-8G>A rs185225547
NM_000350.3(ABCA4):c.1241C>A (p.Ala414Asp) rs1553193893
NM_000350.3(ABCA4):c.1243A>G (p.Asn415Asp)
NM_000350.3(ABCA4):c.1254T>A (p.Phe418Leu)
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.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+13dup rs886046567
NM_000350.3(ABCA4):c.1356+3dup rs1661600677
NM_000350.3(ABCA4):c.1356+5_1356+6insT rs1553193877
NM_000350.3(ABCA4):c.1356+6_1356+7insC rs886046568
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.1457C>A (p.Pro486His)
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.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.1555-10CT[2] rs1280974868
NM_000350.3(ABCA4):c.1555-15T>A
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.1663G>A (p.Asp555Asn) rs2101079203
NM_000350.3(ABCA4):c.166T>A (p.Phe56Ile) rs1662606557
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.173A>T (p.Asn58Ile)
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.1793T>G (p.Val598Gly) rs886044729
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His) rs1064793006
NM_000350.3(ABCA4):c.1808A>T (p.Tyr603Phe) rs2101078386
NM_000350.3(ABCA4):c.180G>C (p.Ala60=) rs756647171
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.1937+5G>A rs536864160
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.2079T>G (p.Asn693Lys) rs1454888484
NM_000350.3(ABCA4):c.2096C>A (p.Thr699Asn) rs1057519142
NM_000350.3(ABCA4):c.2096C>T (p.Thr699Ile)
NM_000350.3(ABCA4):c.2099G>T (p.Trp700Leu) rs61749425
NM_000350.3(ABCA4):c.2105T>C (p.Leu702Pro)
NM_000350.3(ABCA4):c.2122A>G (p.Met708Val)
NM_000350.3(ABCA4):c.2124G>T (p.Met708Ile) rs753711353
NM_000350.3(ABCA4):c.2134A>G (p.Ile712Val)
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.2194A>G (p.Ile732Val)
NM_000350.3(ABCA4):c.2208C>A (p.Phe736Leu) rs2101069913
NM_000350.3(ABCA4):c.2211G>T (p.Leu737Phe)
NM_000350.3(ABCA4):c.2237T>A (p.Met746Lys) rs1660994402
NM_000350.3(ABCA4):c.2242T>C (p.Cys748Arg) rs2101069861
NM_000350.3(ABCA4):c.2243G>A (p.Cys748Tyr) rs1660994342
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.2318A>G (p.Tyr773Cys) rs764727316
NM_000350.3(ABCA4):c.2327A>G (p.His776Arg)
NM_000350.3(ABCA4):c.2328C>A (p.His776Gln)
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.2348A>G (p.Gln783Arg)
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.2369T>G (p.Leu790Arg) rs547925462
NM_000350.3(ABCA4):c.2372A>G (p.Lys791Arg)
NM_000350.3(ABCA4):c.2376G>C (p.Lys792Asn)
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.237T>A (p.Asn79Lys)
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>A (p.Gly803Arg) rs1660945050
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.2533C>G (p.Leu845Val) rs1660938514
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.2570T>C (p.Leu857Pro) rs768435443
NM_000350.3(ABCA4):c.2573A>G (p.Asp858Gly) rs1660936980
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+2del rs766646086
NM_000350.3(ABCA4):c.2653+5G>A rs2101063293
NM_000350.3(ABCA4):c.2654-3C>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.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.2887G>C (p.Gly963Arg) rs1660700735
NM_000350.3(ABCA4):c.2889C>T (p.Gly963=) rs1660700628
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.2911A>C (p.Thr971Pro) rs745825311
NM_000350.3(ABCA4):c.2925C>G (p.Ile975Met)
NM_000350.3(ABCA4):c.2927T>C (p.Leu976Pro)
NM_000350.3(ABCA4):c.2940G>C (p.Leu980Phe) rs886044734
NM_000350.3(ABCA4):c.2947A>T (p.Thr983Ser)
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.2954G>T (p.Gly985Val) rs1660624360
NM_000350.3(ABCA4):c.2957C>T (p.Thr986Ile) rs1660624204
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>A (p.Gly1006Asp) rs1660620340
NM_000350.3(ABCA4):c.3017G>T (p.Gly1006Val)
NM_000350.3(ABCA4):c.302+5G>C
NM_000350.3(ABCA4):c.302+6T>G rs1662599652
NM_000350.3(ABCA4):c.3022T>C (p.Cys1008Arg) rs1660620146
NM_000350.3(ABCA4):c.303-19T>G
NM_000350.3(ABCA4):c.3039_3041dup (p.Leu1014dup) rs1660619507
NM_000350.3(ABCA4):c.3050+363_3050+390del
NM_000350.3(ABCA4):c.3050+4dup rs2101053365
NM_000350.3(ABCA4):c.3051-15G>T rs200223777
NM_000350.3(ABCA4):c.3051-19C>A rs375804885
NM_000350.3(ABCA4):c.3051-19C>G rs375804885
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.3100T>A (p.Ser1034Thr) rs748585116
NM_000350.3(ABCA4):c.3119T>C (p.Leu1040Pro)
NM_000350.3(ABCA4):c.3172G>C (p.Glu1058Gln) rs1265535267
NM_000350.3(ABCA4):c.3175G>T (p.Ala1059Ser)
NM_000350.3(ABCA4):c.3190G>A (p.Gly1064Ser) rs2101051331
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.Ala1073dup) rs2101050681
NM_000350.3(ABCA4):c.3235G>A (p.Asp1079Asn)
NM_000350.3(ABCA4):c.3241_3253delinsTTTGTGGGAGATG (p.Lys1081_Leu1085delinsPheValGlyAspVal) rs1660531880
NM_000350.3(ABCA4):c.3258C>G (p.Asp1086Glu)
NM_000350.3(ABCA4):c.3262C>T (p.Pro1088Ser) rs1553190579
NM_000350.3(ABCA4):c.3266C>A (p.Thr1089Asn) rs2101050605
NM_000350.3(ABCA4):c.3268T>C (p.Ser1090Pro) rs1131691351
NM_000350.3(ABCA4):c.3272G>T (p.Gly1091Val)
NM_000350.3(ABCA4):c.3291A>T (p.Arg1097Ser) rs61750118
NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr) rs138641544
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.3383A>G (p.Asp1128Gly) rs1660480861
NM_000350.3(ABCA4):c.3395T>C (p.Ile1132Thr)
NM_000350.3(ABCA4):c.3398T>C (p.Ile1133Thr) rs1432207212
NM_000350.3(ABCA4):c.3415T>G (p.Tyr1139Asp) rs2101048577
NM_000350.3(ABCA4):c.3434T>G (p.Leu1145Arg) rs1660479149
NM_000350.3(ABCA4):c.3518G>A (p.Ser1173Asn) rs1210484040
NM_000350.3(ABCA4):c.3522+6T>C rs1570370713
NM_000350.3(ABCA4):c.3523-3C>G
NM_000350.3(ABCA4):c.3523-6T>C rs1660449701
NM_000350.3(ABCA4):c.3523-8T>G rs1660449762
NM_000350.3(ABCA4):c.3533G>A (p.Ser1178Asn) rs760620913
NM_000350.3(ABCA4):c.3545A>G (p.Lys1182Arg)
NM_000350.3(ABCA4):c.354G>C (p.Glu118Asp)
NM_000350.3(ABCA4):c.3560C>A (p.Thr1187Lys) rs1266156413
NM_000350.3(ABCA4):c.3574G>A (p.Val1192Ile) rs770363333
NM_000350.3(ABCA4):c.3575T>C (p.Val1192Ala) rs1370609179
NM_000350.3(ABCA4):c.3582C>A (p.Asp1194Glu) rs886038285
NM_000350.3(ABCA4):c.3606T>A (p.Asp1202Glu) rs2101046910
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg) rs1064793011
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.3904C>T (p.Pro1302Ser)
NM_000350.3(ABCA4):c.3924G>C (p.Glu1308Asp)
NM_000350.3(ABCA4):c.392T>C (p.Ile131Thr)
NM_000350.3(ABCA4):c.3941C>T (p.Pro1314Leu) rs2101037181
NM_000350.3(ABCA4):c.3946G>T (p.Asp1316Tyr)
NM_000350.3(ABCA4):c.3947A>C (p.Asp1316Ala) rs746468013
NM_000350.3(ABCA4):c.396del (p.Leu132fs)
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.3992G>T (p.Gly1331Val)
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.4090C>A (p.Gln1364Lys)
NM_000350.3(ABCA4):c.4092A>C (p.Gln1364His) rs1660212835
NM_000350.3(ABCA4):c.4115A>C (p.Asp1372Ala)
NM_000350.3(ABCA4):c.4123G>A (p.Ala1375Thr)
NM_000350.3(ABCA4):c.4128+8T>C rs1660211252
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=) rs1064797113
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.413C>A (p.Thr138Asn)
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.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.4231G>T (p.Gly1411Trp)
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.4340A>T (p.Glu1447Val) rs2101034896
NM_000350.3(ABCA4):c.4352+2dup rs2101034860
NM_000350.3(ABCA4):c.4352+5G>T rs1660166597
NM_000350.3(ABCA4):c.4353-8T>G
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.4480G>A (p.Glu1494Lys) rs745454563
NM_000350.3(ABCA4):c.4498C>T (p.Pro1500Ser)
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.4532C>T (p.Pro1511Leu) rs886046564
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.4539+2000G>A rs1660073175
NM_000350.3(ABCA4):c.4539+2066C>G rs1571261864
NM_000350.3(ABCA4):c.4539G>C (p.Gln1513His)
NM_000350.3(ABCA4):c.4540-1573C>T
NM_000350.3(ABCA4):c.4540-2036C>A rs886044743
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.4549C>T (p.Arg1517Cys) rs1800550
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.4621del (p.Leu1541_Ile1542insTer) rs1557770132
NM_000350.3(ABCA4):c.4632C>G (p.Ser1544Arg) rs750046422
NM_000350.3(ABCA4):c.4634+6A>G rs1659996871
NM_000350.3(ABCA4):c.4635C>T (p.Ser1545=) rs886044744
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.4668-15C>T rs61754054
NM_000350.3(ABCA4):c.4672G>A (p.Gly1558Arg) rs1659914711
NM_000350.3(ABCA4):c.468C>T (p.Ile156=) rs148091207
NM_000350.3(ABCA4):c.477T>G (p.Asp159Glu) rs767738064
NM_000350.3(ABCA4):c.488T>G (p.Leu163Arg) rs1662328590
NM_000350.3(ABCA4):c.489_494del (p.162TL[1]) rs2101143761
NM_000350.3(ABCA4):c.5024C>T (p.Thr1675Ile) rs375156009
NM_000350.3(ABCA4):c.5026A>C (p.Thr1676Pro) rs753489583
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.5080C>A (p.Pro1694Thr) rs1659843027
NM_000350.3(ABCA4):c.5081C>T (p.Pro1694Leu)
NM_000350.3(ABCA4):c.5090T>G (p.Phe1697Cys)
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.5172G>T (p.Trp1724Cys) rs1557767754
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+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+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.5278C>A (p.Leu1760Ile)
NM_000350.3(ABCA4):c.5281C>A (p.Pro1761Thr) rs1454355504
NM_000350.3(ABCA4):c.5281_5289del (p.Pro1761_Leu1763del) rs61753027
NM_000350.3(ABCA4):c.5308T>G (p.Tyr1770Asp) rs1195430987
NM_000350.3(ABCA4):c.5312+3A>T rs767451031
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.5336A>T (p.Tyr1779Phe)
NM_000350.3(ABCA4):c.535T>C (p.Tyr179His) rs1662327014
NM_000350.3(ABCA4):c.5418C>A (p.Ser1806Arg) rs1659670972
NM_000350.3(ABCA4):c.5420G>C (p.Ser1807Thr) rs761435921
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.5471G>C (p.Arg1824Thr) rs1326929680
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.5530G>T (p.Gly1844Cys) rs2101008373
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.5533C>T (p.Leu1845Phe) rs1659540392
NM_000350.3(ABCA4):c.553C>G (p.Gln185Glu)
NM_000350.3(ABCA4):c.5542C>T (p.Leu1848Phe) rs2101008340
NM_000350.3(ABCA4):c.5564C>T (p.Thr1855Ile)
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
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.5610C>A (p.Phe1870Leu) rs886046560
NM_000350.3(ABCA4):c.5640T>A (p.Phe1880Leu) rs374811709
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+1818G>T
NM_000350.3(ABCA4):c.570+5G>T rs1014460684
NM_000350.3(ABCA4):c.5714+103A>G
NM_000350.3(ABCA4):c.5714+19C>A rs1659521212
NM_000350.3(ABCA4):c.5714+5G>T rs61751407
NM_000350.3(ABCA4):c.5715-5T>G
NM_000350.3(ABCA4):c.5719_5720delinsTT (p.Ala1907Phe) rs1659472146
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.5822A>C (p.His1941Pro) rs1161119501
NM_000350.3(ABCA4):c.5836-7C>T rs886042784
NM_000350.3(ABCA4):c.583G>C (p.Val195Leu) rs1206857720
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.589G>A (p.Asp197Asn)
NM_000350.3(ABCA4):c.58A>G (p.Arg20Gly) rs1662934886
NM_000350.3(ABCA4):c.5905G>A (p.Gly1969Ser)
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.5951T>G (p.Met1984Arg) rs1259778135
NM_000350.3(ABCA4):c.5953C>T (p.Leu1985Phe) rs886046559
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.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.6094C>T (p.His2032Tyr) rs183398940
NM_000350.3(ABCA4):c.6103C>T (p.Leu2035Phe)
NM_000350.3(ABCA4):c.6107A>G (p.Tyr2036Cys) rs878853398
NM_000350.3(ABCA4):c.6110C>T (p.Ala2037Val) rs1659353253
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.6147+8A>C rs537690017
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.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.618C>T (p.Ser206=) rs61748536
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.6221G>T (p.Gly2074Val) rs367839100
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
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.629T>A (p.Leu210Gln) rs1246844424
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.6377C>T (p.Thr2126Ile) rs2100993899
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro) rs2100993895
NM_000350.3(ABCA4):c.6380C>T (p.Ser2127Phe) rs1303289867
NM_000350.3(ABCA4):c.6386+3A>C rs2100993868
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn) rs1571242070
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.640A>T (p.Ile214Phe)
NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro) rs761867791
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.6451A>T (p.Met2151Leu) rs1345664981
NM_000350.3(ABCA4):c.6453G>T (p.Met2151Ile) rs1057518954
NM_000350.3(ABCA4):c.6455G>T (p.Gly2152Val) rs1659152504
NM_000350.3(ABCA4):c.6490G>A (p.Gly2164Ser) rs1395925042
NM_000350.3(ABCA4):c.6491G>A (p.Gly2164Asp)
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.6521C>T (p.Pro2174Leu) rs756641536
NM_000350.3(ABCA4):c.6536T>C (p.Leu2179Pro) rs2100988269
NM_000350.3(ABCA4):c.6561G>T (p.Gln2187His)
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.6693C>T (p.Ile2231=) rs1801626
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.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.6746C>A (p.Ala2249Asp)
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.6820T>A (p.Ter2274Arg) rs1658918432
NM_000350.3(ABCA4):c.692C>T (p.Ser231Phe) rs1425185788
NM_000350.3(ABCA4):c.740A>C (p.Asn247Thr)
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.785A>G (p.Asp262Gly) rs1661753710
NM_000350.3(ABCA4):c.791G>A (p.Arg264His) rs567985213
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.81G>A (p.Val27=) rs148357131
NM_000350.3(ABCA4):c.835G>A (p.Asp279Asn)
NM_000350.3(ABCA4):c.858+4dup rs1661749792
NM_000350.3(ABCA4):c.859-13T>C rs1246188478
NM_000350.3(ABCA4):c.859-14_859-13del rs1661673887
NM_000350.3(ABCA4):c.870G>A (p.Arg290=) rs794727902
NM_000350.3(ABCA4):c.878T>G (p.Met293Arg) rs2101107081
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.911_937del (p.Met304_Phe312del) rs1440228037
NM_000350.3(ABCA4):c.923G>A (p.Gly308Asp)
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)
NM_000350.3(ABCA4):c.9C>T (p.Phe3=) rs1352247071

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