ClinVar Miner

List of variants in gene ABCA4 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 678
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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.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
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.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174 0.00246
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.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395 0.00176
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030 0.00174
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.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.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg) rs61748545 0.00039
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys) rs61750648 0.00034
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438 0.00033
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532 0.00033
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269 0.00022
NM_000350.3(ABCA4):c.5984A>T (p.Asp1995Val) rs141489669 0.00022
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly) rs145718830 0.00020
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 0.00019
NM_000350.3(ABCA4):c.5606C>T (p.Pro1869Leu) rs376925793 0.00019
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000350.3(ABCA4):c.6416G>A (p.Arg2139Gln) rs761867791 0.00017
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000350.3(ABCA4):c.2673A>T (p.Glu891Asp) rs766079334 0.00014
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_000350.3(ABCA4):c.5196+1137G>A rs778234759 0.00013
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885 0.00011
NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala) rs779585931 0.00010
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser) rs149071415 0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu) rs375184282 0.00008
NM_000350.3(ABCA4):c.5460+3G>A rs371777196 0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 0.00008
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg) rs142253670 0.00007
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys) rs752786160 0.00006
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln) rs61749410 0.00006
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu) rs61750202 0.00006
NM_000350.3(ABCA4):c.302+1G>A rs61751413 0.00006
NM_000350.3(ABCA4):c.3184C>A (p.Leu1062Ile) rs966434923 0.00006
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) rs756840095 0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574 0.00006
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met) rs62642575 0.00006
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
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.4519G>A (p.Gly1507Arg) rs568792949 0.00005
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205 0.00005
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384 0.00005
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447 0.00004
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg) rs61749412 0.00004
NM_000350.3(ABCA4):c.1958G>A (p.Arg653His) rs141823837 0.00004
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp) rs61751395 0.00004
NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro) rs61752430 0.00004
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val) rs369973540 0.00004
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556 0.00003
NM_000350.3(ABCA4):c.2432G>A (p.Arg811His) rs368016280 0.00003
NM_000350.3(ABCA4):c.3305A>G (p.Asp1102Gly) rs143689372 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.4195G>A (p.Glu1399Lys) rs62642573 0.00003
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His) rs61750142 0.00003
NM_000350.3(ABCA4):c.4539+2001G>A rs1457937638 0.00003
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn) rs61750564 0.00003
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406 0.00003
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp) rs61753029 0.00003
NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met) rs61753032 0.00003
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) rs61753033 0.00003
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521 0.00003
NM_000350.3(ABCA4):c.1007C>G (p.Ser336Cys) rs61748547 0.00002
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp) rs61749446 0.00002
NM_000350.3(ABCA4):c.2932G>A (p.Gly978Ser) rs61749452 0.00002
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) rs201855602 0.00002
NM_000350.3(ABCA4):c.3298A>G (p.Ile1100Val) rs572604704 0.00002
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399 0.00002
NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys) rs779426136 0.00002
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402 0.00002
NM_000350.3(ABCA4):c.5069T>C (p.Met1690Thr) rs1333985048 0.00002
NM_000350.3(ABCA4):c.587C>T (p.Pro196Leu) rs769176363 0.00002
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln) rs767729255 0.00002
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr) rs61748537 0.00002
NM_000350.3(ABCA4):c.885del (p.Leu296fs) rs764759172 0.00002
NM_000350.3(ABCA4):c.1037A>C (p.Lys346Thr) rs61752389 0.00001
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg) rs61748552 0.00001
NM_000350.3(ABCA4):c.1528C>A (p.Leu510Ile) rs758584771 0.00001
NM_000350.3(ABCA4):c.1529T>C (p.Leu510Pro) rs886039299 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 0.00001
NM_000350.3(ABCA4):c.1694C>A (p.Pro565His) rs765891059 0.00001
NM_000350.3(ABCA4):c.1726G>C (p.Asp576His) rs374224955 0.00001
NM_000350.3(ABCA4):c.1761-2A>G rs754765164 0.00001
NM_000350.3(ABCA4):c.1817G>A (p.Gly606Asp) rs147932486 0.00001
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398 0.00001
NM_000350.3(ABCA4):c.184C>T (p.Pro62Ser) rs1355238974 0.00001
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu) rs1057520211 0.00001
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter) rs61749414 0.00001
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420 0.00001
NM_000350.3(ABCA4):c.1A>G (p.Met1Val) rs201738997 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.214G>A (p.Gly72Arg) rs61751412 0.00001
NM_000350.3(ABCA4):c.2160+1G>T rs61749427 0.00001
NM_000350.3(ABCA4):c.2161-6T>C rs998974599 0.00001
NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly) rs61748526 0.00001
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr) rs61749428 0.00001
NM_000350.3(ABCA4):c.2396C>T (p.Pro799Leu) rs542919944 0.00001
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829 0.00001
NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs) rs1005271380 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.2609C>T (p.Pro870Leu) rs746566873 0.00001
NM_000350.3(ABCA4):c.2654-8T>G rs765263670 0.00001
NM_000350.3(ABCA4):c.2870A>G (p.Gln957Arg) rs61749448 0.00001
NM_000350.3(ABCA4):c.2919-10T>C rs886044733 0.00001
NM_000350.3(ABCA4):c.2942C>T (p.Pro981Leu) rs147826775 0.00001
NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro) rs61748530 0.00001
NM_000350.3(ABCA4):c.3005G>A (p.Arg1002Gln) rs752000268 0.00001
NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg) rs61749456 0.00001
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys) rs61749459 0.00001
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys) rs61750061 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.3218C>T (p.Ala1073Val) rs754788289 0.00001
NM_000350.3(ABCA4):c.3293G>A (p.Arg1098His) rs891533398 0.00001
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) rs62645946 0.00001
NM_000350.3(ABCA4):c.3329-1G>A rs544428779 0.00001
NM_000350.3(ABCA4):c.3352C>T (p.His1118Tyr) rs369440533 0.00001
NM_000350.3(ABCA4):c.3384C>G (p.Asp1128Glu) rs369922919 0.00001
NM_000350.3(ABCA4):c.3413T>C (p.Leu1138Pro) rs1287053724 0.00001
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935 0.00001
NM_000350.3(ABCA4):c.3523-1G>A rs766239144 0.00001
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter) rs61752428 0.00001
NM_000350.3(ABCA4):c.4103G>A (p.Arg1368His) rs761163530 0.00001
NM_000350.3(ABCA4):c.4124C>T (p.Ala1375Val) rs1267585230 0.00001
NM_000350.3(ABCA4):c.4253+4C>T rs61754044 0.00001
NM_000350.3(ABCA4):c.4253+5G>A rs61750138 0.00001
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu) rs62646860 0.00001
NM_000350.3(ABCA4):c.4312C>G (p.Pro1438Ala) rs1046550021 0.00001
NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys) rs762150575 0.00001
NM_000350.3(ABCA4):c.4347G>T (p.Trp1449Cys) rs886044741 0.00001
NM_000350.3(ABCA4):c.4352+1G>A rs200967229 0.00001
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368 0.00001
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146 0.00001
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe) rs61750147 0.00001
NM_000350.3(ABCA4):c.4532C>A (p.Pro1511His) rs886046564 0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861 0.00001
NM_000350.3(ABCA4):c.4613A>T (p.Tyr1538Phe) rs1427105205 0.00001
NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr) rs1385119665 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.5128A>C (p.Lys1710Gln) rs778747291 0.00001
NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys) rs374343397 0.00001
NM_000350.3(ABCA4):c.5138A>G (p.Gln1713Arg) rs755826006 0.00001
NM_000350.3(ABCA4):c.5206T>C (p.Ser1736Pro) rs61750568 0.00001
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter) rs61750571 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000350.3(ABCA4):c.5327C>T (p.Pro1776Leu) rs1553187939 0.00001
NM_000350.3(ABCA4):c.5337C>G (p.Tyr1779Ter) rs61750573 0.00001
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val) rs1188515677 0.00001
NM_000350.3(ABCA4):c.5460+1G>T rs61753030 0.00001
NM_000350.3(ABCA4):c.5463G>A (p.Thr1821=) rs367857935 0.00001
NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr) rs61750575 0.00001
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) rs377311148 0.00001
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn) rs371489809 0.00001
NM_000350.3(ABCA4):c.5578C>T (p.Arg1860Trp) rs200849015 0.00001
NM_000350.3(ABCA4):c.564del (p.Glu189fs) rs886044148 0.00001
NM_000350.3(ABCA4):c.5657G>A (p.Gly1886Glu) rs62642579 0.00001
NM_000350.3(ABCA4):c.5773A>G (p.Arg1925Gly) rs757449019 0.00001
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile) rs1208195953 0.00001
NM_000350.3(ABCA4):c.5836-3C>A rs1064793013 0.00001
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) rs61750639 0.00001
NM_000350.3(ABCA4):c.599T>C (p.Leu200Pro) rs1662215591 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) rs61753038 0.00001
NM_000350.3(ABCA4):c.6122G>A (p.Gly2041Asp) rs1462350577 0.00001
NM_000350.3(ABCA4):c.6146A>C (p.Lys2049Thr) rs760481450 0.00001
NM_000350.3(ABCA4):c.6230G>A (p.Arg2077Gln) rs886044759 0.00001
NM_000350.3(ABCA4):c.6250G>A (p.Ala2084Thr) rs1250914690 0.00001
NM_000350.3(ABCA4):c.6282+1G>C rs770453727 0.00001
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His) rs1057520213 0.00001
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) rs61748520 0.00001
NM_000350.3(ABCA4):c.6386+2C>G rs61753043 0.00001
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys) rs61750652 0.00001
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter) rs61750654 0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538 0.00001
NM_000350.3(ABCA4):c.6787C>T (p.Arg2263Ter) rs998363634 0.00001
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp) rs781716640 0.00001
GRCh37/hg19 1p22.1(chr1:94528133-94528873)x1
NC_000001.10:g.(?_94508297)_(94511126_?)dup
NC_000001.10:g.(?_94548977)_(94551693_?)del
NC_000001.11:g.(?_93996109)_(93998110_?)del
NC_000001.11:g.(?_94023386)_(94023418_?)del
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
NM_000350.2(ABCA4):c.[302+68C>T;4539+2028C>T]
NM_000350.2(ABCA4):c.[5381C>A;6148G>C]
NM_000350.2:c.(2918+765_2918+775)_(3328+618_3328+662)del
NM_000350.3(ABCA4):c.1016G>A (p.Trp339Ter) rs1661663692
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.1019A>C (p.Tyr340Ser) rs1191143782
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs) rs63749083
NM_000350.3(ABCA4):c.108del (p.Leu37fs) rs62642569
NM_000350.3(ABCA4):c.1192dup (p.Ile398fs) rs1661625047
NM_000350.3(ABCA4):c.1201A>T (p.Thr401Ser) rs559674920
NM_000350.3(ABCA4):c.1240-8G>A rs185225547
NM_000350.3(ABCA4):c.1248_1554+248del
NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter) rs886039882
NM_000350.3(ABCA4):c.1357-2A>G rs886044726
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.3(ABCA4):c.1508T>C (p.Phe503Ser)
NM_000350.3(ABCA4):c.1519G>T (p.Asp507Tyr)
NM_000350.3(ABCA4):c.1529T>A (p.Leu510His)
NM_000350.3(ABCA4):c.1529T>G (p.Leu510Arg) rs886039299
NM_000350.3(ABCA4):c.1554+1G>A rs61752393
NM_000350.3(ABCA4):c.1555-1G>T rs61752394
NM_000350.3(ABCA4):c.1555-2A>C rs2101079462
NM_000350.3(ABCA4):c.1570A>G (p.Lys524Glu) rs1570394071
NM_000350.3(ABCA4):c.160+1G>A rs61748523
NM_000350.3(ABCA4):c.160+2T>A rs886044721
NM_000350.3(ABCA4):c.160+5G>C rs1064793004
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly) rs886044720
NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs) rs1553192715
NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs) rs793888523
NM_000350.3(ABCA4):c.1649G>A (p.Gly550Glu)
NM_000350.3(ABCA4):c.1657T>G (p.Phe553Val)
NM_000350.3(ABCA4):c.1676G>A (p.Trp559Ter) rs1570393848
NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro) rs61748559
NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile) rs886044728
NM_000350.3(ABCA4):c.1742C>A (p.Thr581Asn) rs1661175744
NM_000350.3(ABCA4):c.1757A>G (p.Asp586Gly) rs1553192682
NM_000350.3(ABCA4):c.1758C>A (p.Asp586Glu) rs1570393727
NM_000350.3(ABCA4):c.1758C>G (p.Asp586Glu) rs1570393727
NM_000350.3(ABCA4):c.1783G>A (p.Ala595Thr) rs2101078458
NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser) rs61751393
NM_000350.3(ABCA4):c.178G>A (p.Ala60Thr) rs61751411
NM_000350.3(ABCA4):c.1795_1833del (p.Glu599_Leu611del) rs2101078317
NM_000350.3(ABCA4):c.1798G>A (p.Asp600Asn)
NM_000350.3(ABCA4):c.179C>A (p.Ala60Glu)
NM_000350.3(ABCA4):c.1805G>C (p.Arg602Pro)
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His) rs1064793006
NM_000350.3(ABCA4):c.1820G>T (p.Gly607Val)
NM_000350.3(ABCA4):c.1822T>C (p.Phe608Leu) rs61752398
NM_000350.3(ABCA4):c.1844T>C (p.Val615Ala) rs2101078285
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys) rs1557787473
NM_000350.3(ABCA4):c.184C>A (p.Pro62Thr) rs1355238974
NM_000350.3(ABCA4):c.1850A>C (p.Gln617Pro)
NM_000350.3(ABCA4):c.1851_1860del (p.Ile619fs) rs1661162346
NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu) rs61751394
NM_000350.3(ABCA4):c.1868A>G (p.Gln623Arg)
NM_000350.3(ABCA4):c.1873C>T (p.Gln625Ter) rs878853396
NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg) rs886044730
NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys) rs61749414
NM_000350.3(ABCA4):c.1918C>G (p.Pro640Ala) rs766570903
NM_000350.3(ABCA4):c.1918C>T (p.Pro640Ser)
NM_000350.3(ABCA4):c.1919C>A (p.Pro640His)
NM_000350.3(ABCA4):c.1919C>G (p.Pro640Arg)
NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu) rs760790294
NM_000350.3(ABCA4):c.191C>T (p.Ala64Val)
NM_000350.3(ABCA4):c.1922G>C (p.Cys641Ser) rs61749416
NM_000350.3(ABCA4):c.1934A>G (p.Asp645Gly) rs2101077991
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu) rs141823837
NM_000350.3(ABCA4):c.1982T>G (p.Leu661Arg)
NM_000350.3(ABCA4):c.1984dup (p.Ala662fs) rs1553192432
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter) rs865990202
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs) rs61749422
NM_000350.3(ABCA4):c.2029G>A (p.Glu677Lys) rs2101075259
NM_000350.3(ABCA4):c.2029G>C (p.Glu677Gln)
NM_000350.3(ABCA4):c.2036A>T (p.Glu679Val) rs1553192420
NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg) rs62654397
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.209T>C (p.Leu70Pro) rs2101162564
NM_000350.3(ABCA4):c.2161-2A>G
NM_000350.3(ABCA4):c.2182A>G (p.Ser728Gly) rs1064793007
NM_000350.3(ABCA4):c.2184C>A (p.Ser728Arg) rs776910485
NM_000350.3(ABCA4):c.2210T>A (p.Leu737Ter) rs1570387558
NM_000350.3(ABCA4):c.223T>C (p.Cys75Arg) rs61748526
NM_000350.3(ABCA4):c.2249T>C (p.Leu750Pro) rs1064793008
NM_000350.3(ABCA4):c.224G>A (p.Cys75Tyr)
NM_000350.3(ABCA4):c.2261T>C (p.Phe754Ser)
NM_000350.3(ABCA4):c.2288C>A (p.Ala763Asp) rs1660985994
NM_000350.3(ABCA4):c.2288C>G (p.Ala763Gly)
NM_000350.3(ABCA4):c.2291G>T (p.Cys764Phe)
NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn) rs61749429
NM_000350.3(ABCA4):c.2294GTG[1] (p.Gly766del) rs2101069736
NM_000350.3(ABCA4):c.2323C>A (p.Pro775Thr)
NM_000350.3(ABCA4):c.2323C>T (p.Pro775Ser)
NM_000350.3(ABCA4):c.2353C>G (p.Arg785Gly) rs781254854
NM_000350.3(ABCA4):c.2382+1G>A rs1660983058
NM_000350.3(ABCA4):c.2385C>G (p.Ser795Arg) rs1660946056
NM_000350.3(ABCA4):c.2390T>C (p.Leu797Pro) rs61749432
NM_000350.3(ABCA4):c.2402C>T (p.Ala801Val)
NM_000350.3(ABCA4):c.242G>C (p.Cys81Ser) rs1570433137
NM_000350.3(ABCA4):c.2452G>A (p.Gly818Arg)
NM_000350.3(ABCA4):c.2459A>C (p.Gln820Pro) rs914542176
NM_000350.3(ABCA4):c.2491G>T (p.Gly831Trp) rs2101067779
NM_000350.3(ABCA4):c.2522_2530del (p.Gln841_Met843del)
NM_000350.3(ABCA4):c.2531T>G (p.Leu844Arg) rs1660938577
NM_000350.3(ABCA4):c.2537A>G (p.Asp846Gly) rs779466403
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val) rs779466403
NM_000350.3(ABCA4):c.2549A>C (p.Tyr850Ser)
NM_000350.3(ABCA4):c.2549A>G (p.Tyr850Cys) rs143797418
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.3(ABCA4):c.2571del (p.Asp858fs) rs61752407
NM_000350.3(ABCA4):c.25C>T (p.Leu9Phe)
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter) rs1570382663
NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter) rs1660843703
NM_000350.3(ABCA4):c.2651_2653+2del
NM_000350.3(ABCA4):c.2653+1G>C rs1212420029
NM_000350.3(ABCA4):c.2653+2T>A
NM_000350.3(ABCA4):c.2653+2T>C
NM_000350.3(ABCA4):c.2653+2del rs766646086
NM_000350.3(ABCA4):c.2654-1G>A
NM_000350.3(ABCA4):c.2654-2A>G rs2101059901
NM_000350.3(ABCA4):c.2680dup (p.Leu894fs) rs1570380080
NM_000350.3(ABCA4):c.2713del (p.Glu905fs) rs869312184
NM_000350.3(ABCA4):c.2744-1G>T rs2101057505
NM_000350.3(ABCA4):c.2791G>T (p.Val931Leu) rs58331765
NM_000350.3(ABCA4):c.2792T>C (p.Val931Ala)
NM_000350.3(ABCA4):c.2803G>A (p.Val935Ile)
NM_000350.3(ABCA4):c.2815G>T (p.Glu939Ter) rs786205447
NM_000350.3(ABCA4):c.2861A>C (p.Tyr954Ser) rs1660701838
NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys) rs398123338
NM_000350.3(ABCA4):c.286A>C (p.Asn96His) rs61748529
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp) rs61748529
NM_000350.3(ABCA4):c.2873T>A (p.Ile958Asn) rs754082669
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.2876C>T (p.Thr959Ile) rs61752409
NM_000350.3(ABCA4):c.2893A>G (p.Asn965Asp) rs61749449
NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys) rs1570377861
NM_000350.3(ABCA4):c.2897G>A (p.Gly966Glu) rs2101057095
NM_000350.3(ABCA4):c.2909C>T (p.Thr970Ile) rs1660700107
NM_000350.3(ABCA4):c.2911A>C (p.Thr971Pro) rs745825311
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn) rs61749450
NM_000350.3(ABCA4):c.2914A>G (p.Thr972Ala)
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.3(ABCA4):c.2915C>T (p.Thr972Ile) rs61749451
NM_000350.3(ABCA4):c.2918+1G>A
NM_000350.3(ABCA4):c.2919-2_2925del
NM_000350.3(ABCA4):c.2930C>G (p.Thr977Arg)
NM_000350.3(ABCA4):c.2933G>C (p.Gly978Ala) rs61749453
NM_000350.3(ABCA4):c.2941C>G (p.Pro981Ala)
NM_000350.3(ABCA4):c.2941C>T (p.Pro981Ser)
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala) rs1368508052
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.2980_2987del (p.Ile994fs) rs1306732480
NM_000350.3(ABCA4):c.2T>C (p.Met1Thr)
NM_000350.3(ABCA4):c.3016G>C (p.Gly1006Arg) rs1660620409
NM_000350.3(ABCA4):c.302+4A>C rs1662599697
NM_000350.3(ABCA4):c.302+4A>G
NM_000350.3(ABCA4):c.3051-16T>A rs1064793009
NM_000350.3(ABCA4):c.3051-1G>C rs2101051637
NM_000350.3(ABCA4):c.3062del (p.Ala1021fs) rs1570373408
NM_000350.3(ABCA4):c.3066G>C (p.Glu1022Asp) rs2101051595
NM_000350.3(ABCA4):c.3098del (p.Lys1033fs) rs878853397
NM_000350.3(ABCA4):c.3134T>C (p.Met1045Thr)
NM_000350.3(ABCA4):c.3148G>A (p.Gly1050Ser)
NM_000350.3(ABCA4):c.3179A>C (p.Gln1060Pro) rs772663974
NM_000350.3(ABCA4):c.3190+2_3190+18del
NM_000350.3(ABCA4):c.3205A>G (p.Lys1069Glu)
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.3223G>A (p.Ala1075Thr)
NM_000350.3(ABCA4):c.3224C>T (p.Ala1075Val)
NM_000350.3(ABCA4):c.3235_3236del (p.Asp1079fs) rs1660532299
NM_000350.3(ABCA4):c.3248T>A (p.Val1083Glu) rs1660531924
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp) rs61752416
NM_000350.3(ABCA4):c.3263C>G (p.Pro1088Arg) rs1660531525
NM_000350.3(ABCA4):c.3263C>T (p.Pro1088Leu) rs1660531525
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu) rs61752417
NM_000350.3(ABCA4):c.3278A>T (p.Asp1093Val)
NM_000350.3(ABCA4):c.3279C>A (p.Asp1093Glu) rs1237125868
NM_000350.3(ABCA4):c.3281C>A (p.Pro1094His) rs2101050573
NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu) rs763267492
NM_000350.3(ABCA4):c.3299T>A (p.Ile1100Asn) rs1553190559
NM_000350.3(ABCA4):c.329A>C (p.Gln110Pro) rs2101156046
NM_000350.3(ABCA4):c.3302G>A (p.Trp1101Ter) rs373868915
NM_000350.3(ABCA4):c.3304G>A (p.Asp1102Asn) rs138641544
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu) rs61750121
NM_000350.3(ABCA4):c.3323del (p.Arg1108fs) rs1660527879
NM_000350.3(ABCA4):c.3328+1G>A rs1660527478
NM_000350.3(ABCA4):c.3328+2T>A rs1660527423
NM_000350.3(ABCA4):c.3344T>G (p.Met1115Arg) rs376947008
NM_000350.3(ABCA4):c.3349A>C (p.Thr1117Pro) rs2101048742
NM_000350.3(ABCA4):c.3352C>A (p.His1118Asn)
NM_000350.3(ABCA4):c.3354C>G (p.His1118Gln)
NM_000350.3(ABCA4):c.3377T>C (p.Leu1126Pro) rs1047376
NM_000350.3(ABCA4):c.3379G>A (p.Gly1127Arg) rs1660481072
NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu) rs1570370929
NM_000350.3(ABCA4):c.3385C>G (p.Arg1129Gly) rs779426136
NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His) rs1801269
NM_000350.3(ABCA4):c.3389T>C (p.Ile1130Thr) rs1064793010
NM_000350.3(ABCA4):c.3407G>A (p.Gly1136Glu) rs1660480045
NM_000350.3(ABCA4):c.3412C>T (p.Leu1138Phe)
NM_000350.3(ABCA4):c.3413T>A (p.Leu1138His) rs1287053724
NM_000350.3(ABCA4):c.3540del (p.Ser1181fs) rs2101047075
NM_000350.3(ABCA4):c.3607+1G>A rs61752421
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg) rs1064793011
NM_000350.3(ABCA4):c.370C>G (p.Arg124Gly)
NM_000350.3(ABCA4):c.37A>G (p.Lys13Glu) rs1131691262
NM_000350.3(ABCA4):c.3863-2A>G
NM_000350.3(ABCA4):c.4049T>C (p.Leu1350Pro) rs1064793012
NM_000350.3(ABCA4):c.4070C>T (p.Ala1357Val) rs552517556
NM_000350.3(ABCA4):c.4128+2T>C
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=) rs1064797113
NM_000350.3(ABCA4):c.4128G>C (p.Gln1376His) rs1064797113
NM_000350.3(ABCA4):c.4129-1G>A rs1553189507
NM_000350.3(ABCA4):c.4192G>A (p.Gly1398Ser)
NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter) rs62642573
NM_000350.3(ABCA4):c.4219C>T (p.Pro1407Ser)
NM_000350.3(ABCA4):c.4220C>T (p.Pro1407Leu) rs1064797091
NM_000350.3(ABCA4):c.4222del (p.Trp1408fs) rs1571264574
NM_000350.3(ABCA4):c.4243A>C (p.Thr1415Pro) rs1571264551
NM_000350.3(ABCA4):c.4253+1G>A rs61750139
NM_000350.3(ABCA4):c.4253+5G>T rs61750138
NM_000350.3(ABCA4):c.4254-1G>A rs886044740
NM_000350.3(ABCA4):c.4254-1G>C rs886044740
NM_000350.3(ABCA4):c.4258G>C (p.Asp1420His)
NM_000350.3(ABCA4):c.427C>G (p.Pro143Ala)
NM_000350.3(ABCA4):c.428del (p.Pro143fs) rs1662504407
NM_000350.3(ABCA4):c.4307A>T (p.Asn1436Ile)
NM_000350.3(ABCA4):c.4309A>T (p.Lys1437Ter) rs1283350532
NM_000350.3(ABCA4):c.4312C>A (p.Pro1438Thr)
NM_000350.3(ABCA4):c.4313C>A (p.Pro1438Gln)
NM_000350.3(ABCA4):c.4313C>G (p.Pro1438Arg) rs774582644
NM_000350.3(ABCA4):c.4313C>T (p.Pro1438Leu)
NM_000350.3(ABCA4):c.4318T>G (p.Phe1440Val) rs61752433
NM_000350.3(ABCA4):c.4319T>C (p.Phe1440Ser) rs61750141
NM_000350.3(ABCA4):c.4324A>G (p.Asn1442Asp) rs2101034926
NM_000350.3(ABCA4):c.4340A>T (p.Glu1447Val) rs2101034896
NM_000350.3(ABCA4):c.4340_4343del (p.Glu1447fs) rs1660166963
NM_000350.3(ABCA4):c.4352+5G>T rs1660166597
NM_000350.3(ABCA4):c.4352+61G>A rs1478038032
NM_000350.3(ABCA4):c.4383G>C (p.Trp1461Cys) rs1347261858
NM_000350.3(ABCA4):c.442+2T>A rs1662504014
NM_000350.3(ABCA4):c.443-2A>G
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr) rs61750147
NM_000350.3(ABCA4):c.4468T>C (p.Cys1490Arg)
NM_000350.3(ABCA4):c.4468T>G (p.Cys1490Gly) rs61750148
NM_000350.3(ABCA4):c.4505G>T (p.Cys1502Phe) rs1660137001
NM_000350.3(ABCA4):c.4519G>T (p.Gly1507Trp) rs568792949
NM_000350.3(ABCA4):c.4520G>C (p.Gly1507Ala)
NM_000350.3(ABCA4):c.452T>C (p.Ile151Thr) rs1012017728
NM_000350.3(ABCA4):c.4531C>A (p.Pro1511Thr)
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu) rs886046564
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4539+2064C>T rs1553189179
NM_000350.3(ABCA4):c.4539+2065C>G
NM_000350.3(ABCA4):c.4540-65_4561delinsCGCTGTGTTCTCTGAGGCAATGAGACACCCACGTTAATTACCTTGGAACTTGAGGACTTATAAGTAGT rs2101027768
NM_000350.3(ABCA4):c.4540-8T>A rs752607057
NM_000350.3(ABCA4):c.4552A>G (p.Ser1518Gly)
NM_000350.3(ABCA4):c.4558G>C (p.Glu1520Gln)
NM_000350.3(ABCA4):c.4609del (p.Thr1537fs) rs1659998657
NM_000350.3(ABCA4):c.4634+1G>C rs767312869
NM_000350.3(ABCA4):c.4634+1del rs1659997092
NM_000350.3(ABCA4):c.4654dup (p.Val1552fs) rs1659953619
NM_000350.3(ABCA4):c.4667+1G>A rs751319688
NM_000350.3(ABCA4):c.4670A>G (p.Tyr1557Cys) rs1401716074
NM_000350.3(ABCA4):c.470T>G (p.Leu157Trp)
NM_000350.3(ABCA4):c.5023A>C (p.Thr1675Pro) rs2101020915
NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe) rs201996979
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro) rs61753020
NM_000350.3(ABCA4):c.5068A>G (p.Met1690Val)
NM_000350.3(ABCA4):c.5084C>T (p.Ala1695Val) rs1659842921
NM_000350.3(ABCA4):c.5086A>G (p.Ser1696Gly)
NM_000350.3(ABCA4):c.5087G>C (p.Ser1696Thr)
NM_000350.3(ABCA4):c.5088C>G (p.Ser1696Arg) rs1435203678
NM_000350.3(ABCA4):c.5113C>G (p.Arg1705Gly)
NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu) rs61753021
NM_000350.3(ABCA4):c.5137_5138delinsAG (p.Gln1713Arg) rs1659840790
NM_000350.3(ABCA4):c.514G>T (p.Gly172Cys)
NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter) rs1557767754
NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs) rs1057518955
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter) rs886044747
NM_000350.3(ABCA4):c.5196+1056A>G rs886044749
NM_000350.3(ABCA4):c.5196+2T>C rs61751405
NM_000350.3(ABCA4):c.5196+3_5196+6del rs61753023
NM_000350.3(ABCA4):c.5203del (p.Tyr1735fs) rs1659721337
NM_000350.3(ABCA4):c.5282C>G (p.Pro1761Arg) rs1057520212
NM_000350.3(ABCA4):c.5288T>C (p.Leu1763Pro) rs61753028
NM_000350.3(ABCA4):c.5289del (p.Val1764fs) rs1553188071
NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg) rs374015407
NM_000350.3(ABCA4):c.5313-2A>G rs759513613
NM_000350.3(ABCA4):c.5315G>A (p.Trp1772Ter) rs776757706
NM_000350.3(ABCA4):c.5330T>G (p.Met1777Arg) rs2101013876
NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys) rs748706582
NM_000350.3(ABCA4):c.5363C>T (p.Pro1788Leu) rs886044751
NM_000350.3(ABCA4):c.5365A>G (p.Ser1789Gly)
NM_000350.3(ABCA4):c.5367C>G (p.Ser1789Arg)
NM_000350.3(ABCA4):c.5371dup (p.Ala1791fs)
NM_000350.3(ABCA4):c.5377G>A (p.Val1793Met) rs1659672463
NM_000350.3(ABCA4):c.5389T>C (p.Cys1797Arg)
NM_000350.3(ABCA4):c.5391_5392del (p.Cys1797_Ala1798insTer) rs786205445
NM_000350.3(ABCA4):c.5395A>G (p.Asn1799Asp) rs61750574
NM_000350.3(ABCA4):c.53G>C (p.Arg18Pro) rs868543294
NM_000350.3(ABCA4):c.5414A>G (p.Asn1805Ser)
NM_000350.3(ABCA4):c.5453del (p.Asn1818fs) rs2101013633
NM_000350.3(ABCA4):c.5461-6T>C rs1659543067
NM_000350.3(ABCA4):c.5510C>T (p.Pro1837Leu) rs1571250077
NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn) rs62642562
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp) rs62642562
NM_000350.3(ABCA4):c.5512C>T (p.His1838Tyr) rs62642562
NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg) rs886044752
NM_000350.3(ABCA4):c.5516T>C (p.Phe1839Ser) rs1297857869
NM_000350.3(ABCA4):c.5522T>A (p.Leu1841Gln)
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp) rs62642576
NM_000350.3(ABCA4):c.5528G>A (p.Arg1843Gln)
NM_000350.3(ABCA4):c.5528_5533del (p.Arg1843_Gly1844del) rs1571250020
NM_000350.3(ABCA4):c.5558C>A (p.Ala1853Asp) rs886044753
NM_000350.3(ABCA4):c.5573A>G (p.Tyr1858Cys)
NM_000350.3(ABCA4):c.5575G>A (p.Ala1859Thr)
NM_000350.3(ABCA4):c.5580del (p.Phe1861fs) rs1659538743
NM_000350.3(ABCA4):c.5584+2T>C rs2101008251
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.559C>T (p.Arg187Cys)
NM_000350.3(ABCA4):c.5621T>C (p.Leu1874Pro)
NM_000350.3(ABCA4):c.5637del (p.Phe1880fs)
NM_000350.3(ABCA4):c.5642C>A (p.Ala1881Asp) rs369973540
NM_000350.3(ABCA4):c.5646G>A (p.Met1882Ile) rs752160946
NM_000350.3(ABCA4):c.5646G>T (p.Met1882Ile) rs752160946
NM_000350.3(ABCA4):c.5656G>A (p.Gly1886Arg) rs886044754
NM_000350.3(ABCA4):c.5687T>A (p.Val1896Asp) rs61750636
NM_000350.3(ABCA4):c.5690_5704del (p.Gln1897_Phe1901del) rs1659522195
NM_000350.3(ABCA4):c.5691G>T (p.Gln1897His) rs771092150
NM_000350.3(ABCA4):c.570+1_570+8del
NM_000350.3(ABCA4):c.570+2T>G
NM_000350.3(ABCA4):c.571-1G>T rs61748533
NM_000350.3(ABCA4):c.571-2A>T rs61748534
NM_000350.3(ABCA4):c.5714+1G>T rs1232476760
NM_000350.3(ABCA4):c.5714+5G>T rs61751407
NM_000350.3(ABCA4):c.5753A>G (p.Asp1918Gly) rs1659470705
NM_000350.3(ABCA4):c.5753A>T (p.Asp1918Val) rs1659470705
NM_000350.3(ABCA4):c.5762_5763del (p.Val1921fs) rs1659469884
NM_000350.3(ABCA4):c.57A>T (p.Lys19Asn) rs1662934961
NM_000350.3(ABCA4):c.5819T>A (p.Leu1940Gln)
NM_000350.3(ABCA4):c.5822A>C (p.His1941Pro) rs1161119501
NM_000350.3(ABCA4):c.5828T>C (p.Leu1943Pro) rs886044755
NM_000350.3(ABCA4):c.5828T>G (p.Leu1943Arg)
NM_000350.3(ABCA4):c.5846del (p.Gly1949fs) rs1659452428
NM_000350.3(ABCA4):c.5863G>A (p.Val1955Met) rs2101004195
NM_000350.3(ABCA4):c.5887C>A (p.Arg1963Ser)
NM_000350.3(ABCA4):c.5898+5G>A
NM_000350.3(ABCA4):c.5898+5del rs922818626
NM_000350.3(ABCA4):c.5900G>A (p.Cys1967Tyr) rs2101003456
NM_000350.3(ABCA4):c.5908C>A (p.Leu1970Ile) rs28938473
NM_000350.3(ABCA4):c.5909T>C (p.Leu1970Pro) rs886044756
NM_000350.3(ABCA4):c.5915del (p.Gly1972fs) rs1659430143
NM_000350.3(ABCA4):c.5924G>T (p.Gly1975Val) rs1659429594
NM_000350.3(ABCA4):c.5929G>C (p.Gly1977Arg) rs61750639
NM_000350.3(ABCA4):c.5929G>T (p.Gly1977Cys) rs61750639
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu) rs1064793014
NM_000350.3(ABCA4):c.5935A>G (p.Thr1979Ala) rs1571247308
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile) rs61753037
NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg) rs752147871
NM_000350.3(ABCA4):c.5950A>T (p.Met1984Leu) rs2101003323
NM_000350.3(ABCA4):c.5959_5964delinsTG (p.Thr1986_Gly1987insTer) rs1659427600
NM_000350.3(ABCA4):c.5986G>A (p.Ala1996Thr) rs2101003223
NM_000350.3(ABCA4):c.6005+1G>T rs61748517
NM_000350.3(ABCA4):c.6006-2A>G
NM_000350.3(ABCA4):c.6044G>T (p.Gly2015Val)
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) rs886044758
NM_000350.3(ABCA4):c.6098T>C (p.Leu2033Pro) rs1553186896
NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg) rs1553186896
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro) rs61750642
NM_000350.3(ABCA4):c.6113G>C (p.Arg2038Pro) rs767729255
NM_000350.3(ABCA4):c.6119G>C (p.Arg2040Pro) rs148460146
NM_000350.3(ABCA4):c.6148-2A>G
NM_000350.3(ABCA4):c.6148-698_6670del
NM_000350.3(ABCA4):c.614G>A (p.Cys205Tyr)
NM_000350.3(ABCA4):c.614G>T (p.Cys205Phe) rs1662214905
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter) rs61750644
NM_000350.3(ABCA4):c.6173T>A (p.Leu2058Gln)
NM_000350.3(ABCA4):c.6178C>G (p.Leu2060Val)
NM_000350.3(ABCA4):c.6179T>C (p.Leu2060Pro)
NM_000350.3(ABCA4):c.6191C>G (p.Ala2064Gly)
NM_000350.3(ABCA4):c.6198C>A (p.Cys2066Ter)
NM_000350.3(ABCA4):c.619G>A (p.Glu207Lys) rs147807073
NM_000350.3(ABCA4):c.61C>T (p.Gln21Ter) rs770272033
NM_000350.3(ABCA4):c.6213C>G (p.Tyr2071Ter) rs62642580
NM_000350.3(ABCA4):c.6214A>G (p.Ser2072Gly)
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val) rs367839100
NM_000350.3(ABCA4):c.6226A>G (p.Lys2076Glu) rs1553186509
NM_000350.3(ABCA4):c.6229C>G (p.Arg2077Gly) rs61750645
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp) rs61750645
NM_000350.3(ABCA4):c.6230G>T (p.Arg2077Leu)
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln) rs951379922
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6245C>T (p.Ala2082Val) rs1659195030
NM_000350.3(ABCA4):c.6284A>T (p.Asp2095Val) rs1064793015
NM_000350.3(ABCA4):c.6285_6286inv (p.Glu2096Lys)
NM_000350.3(ABCA4):c.6288G>C (p.Glu2096Asp) rs2100994099
NM_000350.3(ABCA4):c.6289C>A (p.Pro2097Thr)
NM_000350.3(ABCA4):c.6299G>A (p.Gly2100Glu) rs2100994077
NM_000350.3(ABCA4):c.629del (p.Leu210fs) rs2101135952
NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His) rs2100994049
NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser) rs2297669
NM_000350.3(ABCA4):c.6323_6331delinsGGC (p.Met2108_Asn2111delinsArgHis) rs1659159979
NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro) rs886044761
NM_000350.3(ABCA4):c.6328T>C (p.Trp2110Arg)
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro) rs2100993895
NM_000350.3(ABCA4):c.6386+1G>A rs745654673
NM_000350.3(ABCA4):c.6386+4A>G
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn) rs1571242070
NM_000350.3(ABCA4):c.6397T>C (p.Cys2133Arg)
NM_000350.3(ABCA4):c.6401A>G (p.Glu2134Gly) rs2100993742
NM_000350.3(ABCA4):c.6419T>G (p.Leu2140Arg) rs774475956
NM_000350.3(ABCA4):c.6425T>A (p.Ile2142Asn)
NM_000350.3(ABCA4):c.6428T>A (p.Met2143Lys) rs1659153516
NM_000350.3(ABCA4):c.6437G>A (p.Gly2146Asp) rs61753044
NM_000350.3(ABCA4):c.6446G>C (p.Arg2149Pro) rs61750655
NM_000350.3(ABCA4):c.6446G>T (p.Arg2149Leu) rs61750655
NM_000350.3(ABCA4):c.6454G>A (p.Gly2152Ser)
NM_000350.3(ABCA4):c.6454G>T (p.Gly2152Cys) rs1571241947
NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu) rs1571241930
NM_000350.3(ABCA4):c.6510dup (p.Ile2171fs) rs1659061509
NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg) rs886044762
NM_000350.3(ABCA4):c.66+1G>C
NM_000350.3(ABCA4):c.66+1del rs1662934446
NM_000350.3(ABCA4):c.66+2T>C
NM_000350.3(ABCA4):c.6647C>A (p.Ala2216Glu)
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.3(ABCA4):c.6698A>T (p.Glu2233Val) rs2100987881
NM_000350.3(ABCA4):c.67-2A>G rs398123339
NM_000350.3(ABCA4):c.6713A>G (p.Gln2238Arg) rs886044764
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.6731T>A (p.Val2244Glu) rs1658995249
NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser) rs149780335
NM_000350.3(ABCA4):c.6787C>G (p.Arg2263Gly)
NM_000350.3(ABCA4):c.6788G>A (p.Arg2263Gln) rs281865407
NM_000350.3(ABCA4):c.6816+2T>A rs112005636
NM_000350.3(ABCA4):c.6817-2A>G rs1658918693
NM_000350.3(ABCA4):c.688T>A (p.Cys230Ser) rs1057518767
NM_000350.3(ABCA4):c.689G>A (p.Cys230Tyr)
NM_000350.3(ABCA4):c.689G>T (p.Cys230Phe)
NM_000350.3(ABCA4):c.70C>G (p.Arg24Gly) rs62645942
NM_000350.3(ABCA4):c.712C>T (p.Gln238Ter) rs1356104318
NM_000350.3(ABCA4):c.719T>G (p.Ile240Arg) rs1553195472
NM_000350.3(ABCA4):c.727_728dup (p.Tyr245fs) rs1662208443
NM_000350.3(ABCA4):c.731T>C (p.Leu244Pro) rs62646864
NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter) rs1662208035
NM_000350.3(ABCA4):c.758T>A (p.Leu253His) rs2101135424
NM_000350.3(ABCA4):c.769-784C>T
NM_000350.3(ABCA4):c.834del (p.Asp279fs) rs779743222
NM_000350.3(ABCA4):c.859-1G>C rs2101107143
NM_000350.3(ABCA4):c.859-9T>C rs529598960
NM_000350.3(ABCA4):c.86T>G (p.Leu29Arg) rs886044719
NM_000350.3(ABCA4):c.91T>C (p.Trp31Arg)
NM_000350.3(ABCA4):c.926C>A (p.Pro309Gln)
NM_000350.3(ABCA4):c.982G>A (p.Glu328Lys) rs61751418
NM_000350.3(ABCA4):c.[1411G>A;5693G>A]
NM_000350.3(ABCA4):c.[1531C>T;872C>T]
NM_000350.3(ABCA4):c.[1610G>A;5603A>T]
NM_000350.3(ABCA4):c.[2588G>C;5603A>T]
NM_000350.3(ABCA4):c.[3322C>T;6320G>A]
NM_000350.3(ABCA4):c.[52C>T;5603A>T]
NM_000350.3(ABCA4):c.[5461-10T>C;5603A>T]
NM_000350.3(ABCA4):c.[5603A>T;5714+5G>A]

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.