ClinVar Miner

List of variants in gene ABCA4 studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1130
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.141A>G (p.Pro47=) rs4847281 0.98746
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_000350.3(ABCA4):c.5585-70C>T rs537831 0.65778
NM_000350.3(ABCA4):c.4128+156C>T rs4147841 0.56024
NM_000350.3(ABCA4):c.302+26A>G rs2297634 0.48752
NM_000350.3(ABCA4):c.1240-14C>T rs4147830 0.47169
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=) rs1801555 0.27862
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831 0.25928
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5715-25A>C rs4147856 0.20432
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_000350.3(ABCA4):c.5836-43C>A rs2275031 0.19847
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_000350.3(ABCA4):c.6730-3T>C rs1800717 0.15096
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359 0.13311
NM_000350.3(ABCA4):c.6282+7G>A rs17110761 0.13306
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831 0.09402
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239 0.04939
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.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072 0.02574
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.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.1878G>A (p.Ala626=) rs61754023 0.00324
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.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.5196+1159G>A rs80110715 0.00191
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.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.4283C>T (p.Thr1428Met) rs1800549 0.00160
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.2791G>A (p.Val931Met) rs58331765 0.00136
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.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.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys) rs75267647 0.00066
NM_000350.3(ABCA4):c.981C>T (p.Pro327=) rs61753057 0.00054
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641 0.00048
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=) rs61754033 0.00041
NM_000350.3(ABCA4):c.4353-4T>C rs375886479 0.00039
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.1692A>G (p.Pro564=) rs143263315 0.00037
NM_000350.3(ABCA4):c.4352+15G>A rs139611589 0.00036
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.5992G>A (p.Val1998Ile) rs147870733 0.00036
NM_000350.3(ABCA4):c.1969A>G (p.Ile657Val) rs199590367 0.00034
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg) rs144995371 0.00034
NM_000350.3(ABCA4):c.2930C>T (p.Thr977Met) rs148015012 0.00034
NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys) rs150895509 0.00034
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.2383-12G>A rs368548294 0.00031
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met) rs139250920 0.00029
NM_000350.3(ABCA4):c.294C>G (p.Asn98Lys) rs145133167 0.00028
NM_000350.3(ABCA4):c.3076T>C (p.Phe1026Leu) rs369703217 0.00028
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130 0.00023
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.3386G>T (p.Arg1129Leu) rs1801269 0.00022
NM_000350.3(ABCA4):c.2473G>A (p.Gly825Arg) rs368367104 0.00019
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.4128+16G>A rs61783968 0.00018
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.4577C>T (p.Thr1526Met) rs61750152 0.00016
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424 0.00014
NM_000350.3(ABCA4):c.3363C>T (p.Asp1121=) rs146117512 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.5196+1137G>A rs778234759 0.00013
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885 0.00011
NM_000350.3(ABCA4):c.3191-19G>A rs371455065 0.00011
NM_000350.3(ABCA4):c.3329-11C>T rs367580653 0.00011
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.2813T>C (p.Phe938Ser) rs149071415 0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_000350.3(ABCA4):c.5714+4C>T rs376586802 0.00009
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met) rs202127235 0.00009
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405 0.00009
NM_000350.3(ABCA4):c.2843G>A (p.Arg948His) rs148545207 0.00008
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.5478C>T (p.Asn1826=) rs762632312 0.00008
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys) rs61750200 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.2894A>G (p.Asn965Ser) rs201471607 0.00007
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.1818C>T (p.Gly606=) rs377164833 0.00006
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu) rs61750202 0.00006
NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg) rs140281495 0.00006
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=) rs180921875 0.00006
NM_000350.3(ABCA4):c.302+1G>A rs61751413 0.00006
NM_000350.3(ABCA4):c.302+68C>T rs761188244 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.1251T>C (p.Thr417=) rs374336459 0.00005
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452 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.2267C>T (p.Ser756Phe) rs372508062 0.00005
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met) rs142732109 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.570+1798A>G rs888731641 0.00005
NM_000350.3(ABCA4):c.6282+9G>A rs758705900 0.00005
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr) rs61751384 0.00005
NM_000350.3(ABCA4):c.764G>A (p.Arg255His) rs148387660 0.00005
NM_000350.3(ABCA4):c.1208A>T (p.Asp403Val) rs913030626 0.00004
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550 0.00004
NM_000350.3(ABCA4):c.156T>G (p.His52Gln) rs557725292 0.00004
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447 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.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.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.3974C>T (p.Pro1325Leu) rs371582683 0.00004
NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro) rs61752430 0.00004
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785 0.00004
NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln) rs61753021 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.5642C>T (p.Ala1881Val) rs369973540 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.6112C>T (p.Arg2038Trp) rs61750643 0.00004
NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys) rs2297669 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.1319A>G (p.Tyr440Cys) rs770439859 0.00003
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys) rs61748556 0.00003
NM_000350.3(ABCA4):c.1937+1G>A rs61752401 0.00003
NM_000350.3(ABCA4):c.2147C>T (p.Thr716Met) rs61749426 0.00003
NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His) rs61750121 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.4327C>T (p.Arg1443Cys) rs533422156 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.5791G>A (p.Gly1931Ser) rs757462382 0.00003
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) rs61753033 0.00003
NM_000350.3(ABCA4):c.5824G>C (p.Glu1942Gln) rs760353830 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.1007C>G (p.Ser336Cys) rs61748547 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.179C>T (p.Ala60Val) rs55732384 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter) rs145961131 0.00002
NM_000350.3(ABCA4):c.2126C>T (p.Ser709Leu) rs374152623 0.00002
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp) rs61749446 0.00002
NM_000350.3(ABCA4):c.2862C>T (p.Tyr954=) rs757870374 0.00002
NM_000350.3(ABCA4):c.2932G>A (p.Gly978Ser) rs61749452 0.00002
NM_000350.3(ABCA4):c.303-3C>T rs777945195 0.00002
NM_000350.3(ABCA4):c.3050+5G>A rs61751262 0.00002
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) rs201855602 0.00002
NM_000350.3(ABCA4):c.3291A>G (p.Arg1097=) rs61750118 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.3449G>A (p.Cys1150Tyr) rs375783686 0.00002
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter) rs61752427 0.00002
NM_000350.3(ABCA4):c.3972G>A (p.Ala1324=) rs200965081 0.00002
NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=) rs139109485 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.587C>T (p.Pro196Leu) rs769176363 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.6528C>T (p.Asp2176=) rs767917933 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.6647C>T (p.Ala2216Val) rs886044763 0.00002
NM_000350.3(ABCA4):c.70C>T (p.Arg24Cys) rs62645942 0.00002
NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys) rs62645952 0.00002
NM_000350.3(ABCA4):c.885del (p.Leu296fs) rs764759172 0.00002
NM_000350.3(ABCA4):c.945G>A (p.Leu315=) rs764002833 0.00002
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.1239+1G>C rs765707028 0.00001
NM_000350.3(ABCA4):c.123G>A (p.Trp41Ter) rs748357067 0.00001
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) rs794726979 0.00001
NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter) rs886044725 0.00001
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg) rs61748552 0.00001
NM_000350.3(ABCA4):c.1342A>G (p.Met448Val) rs1169850759 0.00001
NM_000350.3(ABCA4):c.1364T>A (p.Leu455Gln) rs1366296798 0.00001
NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter) rs886044727 0.00001
NM_000350.3(ABCA4):c.1586A>G (p.Asn529Ser) rs764995626 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.1938-1G>A rs61751263 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.223T>G (p.Cys75Gly) rs61748526 0.00001
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr) rs61749428 0.00001
NM_000350.3(ABCA4):c.2345G>A (p.Trp782Ter) rs911580078 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.2461T>A (p.Trp821Arg) rs61749433 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.2564G>A (p.Trp855Ter) rs61752406 0.00001
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu) rs746566873 0.00001
NM_000350.3(ABCA4):c.2617T>C (p.Phe873Leu) rs62642570 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.2712G>A (p.Thr904=) rs546067089 0.00001
NM_000350.3(ABCA4):c.2744-402G>A rs1251023127 0.00001
NM_000350.3(ABCA4):c.2779C>T (p.Pro927Ser) rs985690206 0.00001
NM_000350.3(ABCA4):c.2841C>T (p.Asp947=) rs200551567 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.2920T>C (p.Ser974Pro) rs281865400 0.00001
NM_000350.3(ABCA4):c.2980A>G (p.Ile994Val) rs546606452 0.00001
NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro) rs61748530 0.00001
NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg) rs61749456 0.00001
NM_000350.3(ABCA4):c.3059T>A (p.Val1020Glu) rs112300381 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.3149G>A (p.Gly1050Asp) rs61750062 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.319C>T (p.Arg107Ter) rs765429911 0.00001
NM_000350.3(ABCA4):c.3212C>T (p.Ser1071Leu) rs61750065 0.00001
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys) rs61751398 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.3409A>G (p.Arg1137Gly) rs765328414 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.3523-2A>G rs1168144507 0.00001
NM_000350.3(ABCA4):c.3900A>G (p.Arg1300=) rs886044739 0.00001
NM_000350.3(ABCA4):c.3953A>G (p.Asn1318Ser) rs960704174 0.00001
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter) rs61752428 0.00001
NM_000350.3(ABCA4):c.3996G>T (p.Gln1332His) rs765176802 0.00001
NM_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr) rs754899711 0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135 0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) rs61750137 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.4416G>A (p.Gln1472=) rs780663071 0.00001
NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter) rs61752434 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.4501G>T (p.Glu1501Ter) rs888059763 0.00001
NM_000350.3(ABCA4):c.4506C>T (p.Cys1502=) rs61750149 0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter) rs62646861 0.00001
NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr) rs1385119665 0.00001
NM_000350.3(ABCA4):c.5026A>T (p.Thr1676Ser) rs753489583 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys) rs374343397 0.00001
NM_000350.3(ABCA4):c.5186T>C (p.Leu1729Pro) rs61750567 0.00001
NM_000350.3(ABCA4):c.5196+1G>A rs61751377 0.00001
NM_000350.3(ABCA4):c.5209G>A (p.Val1737Met) rs761017794 0.00001
NM_000350.3(ABCA4):c.5305C>A (p.Leu1769Met) rs1274228304 0.00001
NM_000350.3(ABCA4):c.5312+1G>A rs886044750 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.5324T>A (p.Ile1775Asn) rs771742619 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.5361C>T (p.Val1787=) rs757545714 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.5501T>C (p.Ile1834Thr) rs748355733 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.5593C>T (p.His1865Tyr) rs201707267 0.00001
NM_000350.3(ABCA4):c.5645T>C (p.Met1882Thr) rs780817685 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.5973G>C (p.Val1991=) rs886044757 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.6269C>T (p.Pro2090Leu) rs533271864 0.00001
NM_000350.3(ABCA4):c.6270G>A (p.Pro2090=) rs755217474 0.00001
NM_000350.3(ABCA4):c.6282+1G>C rs770453727 0.00001
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646 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.6383A>G (p.His2128Arg) rs61750651 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.6494A>G (p.Tyr2165Cys) rs940867738 0.00001
NM_000350.3(ABCA4):c.6499G>A (p.Val2167Ile) rs761087853 0.00001
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser) rs61750658 0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538 0.00001
NM_000350.3(ABCA4):c.66+19G>A rs777949965 0.00001
NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro) rs61750659 0.00001
NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter) rs372234578 0.00001
NM_000350.3(ABCA4):c.733T>C (p.Tyr245His) rs201136017 0.00001
NM_000350.3(ABCA4):c.740A>G (p.Asn247Ser) rs62645950 0.00001
NM_000350.3(ABCA4):c.769-3C>T rs368010652 0.00001
NM_000350.3(ABCA4):c.790C>T (p.Arg264Cys) rs767947718 0.00001
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp) rs781716640 0.00001
NC_000001.11:g.(?_93993236)_(94005583_94007633)del
NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs) rs61750064
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
NM_000350.2(ABCA4):c.[1A>G;6089G>A]
NM_000350.2(ABCA4):c.[2588G>C];[5882G>A]
NM_000350.2(ABCA4):c.[302+68C>T;4539+2028C>T]
NM_000350.2(ABCA4):c.[5512C>G;5882G>A]
NM_000350.2:c.(2918+765_2918+775)_(3328+618_3328+662)del
NM_000350.2:c.(6816+1_6817-1)_(*1_?)del
NM_000350.3(ABCA4):c.1016G>A (p.Trp339Ter) rs1661663692
NM_000350.3(ABCA4):c.1017G>A (p.Trp339Ter)
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.1018T>G (p.Tyr340Asp) rs61748548
NM_000350.3(ABCA4):c.1019A>C (p.Tyr340Ser) rs1191143782
NM_000350.3(ABCA4):c.1019A>G (p.Tyr340Cys)
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs) rs63749083
NM_000350.3(ABCA4):c.1034A>G (p.Tyr345Cys) rs1417184535
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter) rs61752390
NM_000350.3(ABCA4):c.108del (p.Leu37fs) rs62642569
NM_000350.3(ABCA4):c.1099+3A>C rs1570407965
NM_000350.3(ABCA4):c.1099+4A>C
NM_000350.3(ABCA4):c.113T>G (p.Val38Gly)
NM_000350.3(ABCA4):c.1172del (p.Lys391fs) rs1570407032
NM_000350.3(ABCA4):c.1192dup (p.Ile398fs) rs1661625047
NM_000350.3(ABCA4):c.1201A>T (p.Thr401Ser) rs559674920
NM_000350.3(ABCA4):c.1225del (p.Arg409fs) rs387906387
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter) rs61751410
NM_000350.3(ABCA4):c.1230A>G (p.Ile410Met)
NM_000350.3(ABCA4):c.1240-3_1240dup
NM_000350.3(ABCA4):c.1240-65del rs3215952
NM_000350.3(ABCA4):c.1240-8G>A rs185225547
NM_000350.3(ABCA4):c.1247C>G (p.Ser416Ter)
NM_000350.3(ABCA4):c.1248_1554+248del
NM_000350.3(ABCA4):c.1254T>A (p.Phe418Leu)
NM_000350.3(ABCA4):c.1267_1268inv (p.His423Cys)
NM_000350.3(ABCA4):c.1302del (p.Gln437fs) rs1448468321
NM_000350.3(ABCA4):c.1317G>A (p.Trp439Ter) rs61752391
NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter) rs886039882
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys) rs777078540
NM_000350.3(ABCA4):c.1344del (p.Met448fs) rs61748554
NM_000350.3(ABCA4):c.1351A>C (p.Ile451Leu)
NM_000350.3(ABCA4):c.1356+1G>T
NM_000350.3(ABCA4):c.1356+4dup rs1661600677
NM_000350.3(ABCA4):c.1357-2A>G rs886044726
NM_000350.3(ABCA4):c.1391T>A (p.Leu464Ter) rs2101101348
NM_000350.3(ABCA4):c.1417_1420dup (p.Thr474fs) rs1661578005
NM_000350.3(ABCA4):c.1454del (p.Gly485fs) rs1661577361
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln) rs145614671
NM_000350.3(ABCA4):c.1495T>C (p.Trp499Arg)
NM_000350.3(ABCA4):c.1496G>A (p.Trp499Ter) rs1661575232
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter) rs1553193813
NM_000350.3(ABCA4):c.1508T>C (p.Phe503Ser)
NM_000350.3(ABCA4):c.1520A>G (p.Asp507Gly)
NM_000350.3(ABCA4):c.1523G>C (p.Arg508Pro)
NM_000350.3(ABCA4):c.1529T>G (p.Leu510Arg) rs886039299
NM_000350.3(ABCA4):c.153T>C (p.His51=)
NM_000350.3(ABCA4):c.1553A>C (p.Glu518Ala)
NM_000350.3(ABCA4):c.1554+1G>T
NM_000350.3(ABCA4):c.1554+3_1554+4del
NM_000350.3(ABCA4):c.1555-2A>C rs2101079462
NM_000350.3(ABCA4):c.1555-6842A>G
NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter) rs1553192726
NM_000350.3(ABCA4):c.1574T>C (p.Phe525Ser)
NM_000350.3(ABCA4):c.1597C>T (p.Gln533Ter)
NM_000350.3(ABCA4):c.160+1G>A rs61748523
NM_000350.3(ABCA4):c.160+2T>A rs886044721
NM_000350.3(ABCA4):c.160+2T>C rs886044721
NM_000350.3(ABCA4):c.160+367G>A
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly) rs886044720
NM_000350.3(ABCA4):c.161-1G>A
NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe) rs150774447
NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs) rs1553192715
NM_000350.3(ABCA4):c.1645G>A (p.Ala549Thr) rs61748557
NM_000350.3(ABCA4):c.1652T>C (p.Val551Ala)
NM_000350.3(ABCA4):c.1653G>T (p.Val551=)
NM_000350.3(ABCA4):c.166T>A (p.Phe56Ile) rs1662606557
NM_000350.3(ABCA4):c.1676G>A (p.Trp559Ter) rs1570393848
NM_000350.3(ABCA4):c.1698C>G (p.His566Gln)
NM_000350.3(ABCA4):c.1714C>T (p.Arg572Ter) rs1557787756
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.173A>T (p.Asn58Ile)
NM_000350.3(ABCA4):c.1742C>A (p.Thr581Asn) rs1661175744
NM_000350.3(ABCA4):c.1749_1750del (p.Lys583fs) rs2101079015
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.1759A>G (p.Arg587Gly) rs1661175150
NM_000350.3(ABCA4):c.1760+2T>G rs61751385
NM_000350.3(ABCA4):c.1761G>T (p.Arg587Ser) rs1661166945
NM_000350.3(ABCA4):c.1765del (p.Trp589fs) rs1557787559
NM_000350.3(ABCA4):c.1766G>A (p.Trp589Ter) rs2101078482
NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser) rs61751393
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.1798G>T (p.Asp600Tyr) rs61752397
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His) rs1064793006
NM_000350.3(ABCA4):c.180G>C (p.Ala60=) rs756647171
NM_000350.3(ABCA4):c.1811T>G (p.Ile604Ser) rs61749411
NM_000350.3(ABCA4):c.1819G>C (p.Gly607Arg) rs61749412
NM_000350.3(ABCA4):c.1820G>T (p.Gly607Val)
NM_000350.3(ABCA4):c.1832T>C (p.Leu611Pro)
NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter) rs1057517700
NM_000350.3(ABCA4):c.1835A>C (p.Gln612Pro)
NM_000350.3(ABCA4):c.1838A>G (p.Asp613Gly)
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys) rs1557787473
NM_000350.3(ABCA4):c.1848del (p.Glu616fs) rs61751386
NM_000350.3(ABCA4):c.1851_1860del (p.Ile619fs) rs1661162346
NM_000350.3(ABCA4):c.1852G>A (p.Gly618Arg) rs1661163134
NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu) rs61751394
NM_000350.3(ABCA4):c.1862G>C (p.Arg621Thr)
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.1901T>C (p.Leu634Pro)
NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys) rs61749414
NM_000350.3(ABCA4):c.1917C>A (p.Tyr639Ter) rs61749415
NM_000350.3(ABCA4):c.1918C>A (p.Pro640Thr)
NM_000350.3(ABCA4):c.1918C>G (p.Pro640Ala) rs766570903
NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu) rs760790294
NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn) rs61749418
NM_000350.3(ABCA4):c.1937+3G>A
NM_000350.3(ABCA4):c.1937+5G>A rs536864160
NM_000350.3(ABCA4):c.1938-621G>A
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
NM_000350.3(ABCA4):c.1957del (p.Arg653fs)
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu) rs141823837
NM_000350.3(ABCA4):c.1984dup (p.Ala662fs) rs1553192432
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter) rs865990202
NM_000350.3(ABCA4):c.1994del (p.Tyr665fs)
NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter) rs757302286
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs) rs61749422
NM_000350.3(ABCA4):c.2007G>C (p.Met669Ile) rs545963645
NM_000350.3(ABCA4):c.2012_2013del (p.Val671fs) rs1661098509
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.2055del (p.Thr685_Leu686insTer)
NM_000350.3(ABCA4):c.2063dup (p.Asn688fs)
NM_000350.3(ABCA4):c.2069del (p.Gly690fs) rs2101075191
NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter) rs886044722
NM_000350.3(ABCA4):c.2099G>A (p.Trp700Ter) rs61749425
NM_000350.3(ABCA4):c.2099G>T (p.Trp700Leu) rs61749425
NM_000350.3(ABCA4):c.2105T>C (p.Leu702Pro)
NM_000350.3(ABCA4):c.2123T>A (p.Met708Lys)
NM_000350.3(ABCA4):c.2148G>A (p.Thr716=)
NM_000350.3(ABCA4):c.2154C>T (p.Phe718=)
NM_000350.3(ABCA4):c.2161-1G>A rs1401924846
NM_000350.3(ABCA4):c.2200T>G (p.Phe734Val)
NM_000350.3(ABCA4):c.2203del (p.Leu735fs)
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.2256C>A (p.Ser752Arg)
NM_000350.3(ABCA4):c.2261T>C (p.Phe754Ser)
NM_000350.3(ABCA4):c.2279T>C (p.Leu760Pro)
NM_000350.3(ABCA4):c.2290T>C (p.Cys764Arg)
NM_000350.3(ABCA4):c.2292_2295delinsAGG (p.Cys764_Ser765delinsTer) rs2101069758
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.2318A>G (p.Tyr773Cys) rs764727316
NM_000350.3(ABCA4):c.2327A>G (p.His776Arg)
NM_000350.3(ABCA4):c.2331C>A (p.Ile777=)
NM_000350.3(ABCA4):c.2337C>G (p.Cys779Trp)
NM_000350.3(ABCA4):c.2347C>T (p.Gln783Ter) rs2101069632
NM_000350.3(ABCA4):c.2368C>G (p.Leu790Val)
NM_000350.3(ABCA4):c.2382+4A>G
NM_000350.3(ABCA4):c.2397G>A (p.Pro799=) rs778503467
NM_000350.3(ABCA4):c.2407G>A (p.Gly803Arg) rs1660945050
NM_000350.3(ABCA4):c.2408del (p.Gly803fs) rs1570386206
NM_000350.3(ABCA4):c.241T>C (p.Cys81Arg)
NM_000350.3(ABCA4):c.2424C>G (p.Tyr808Ter)
NM_000350.3(ABCA4):c.242G>C (p.Cys81Ser) rs1570433137
NM_000350.3(ABCA4):c.2440G>A (p.Glu814Lys)
NM_000350.3(ABCA4):c.2453G>C (p.Gly818Ala)
NM_000350.3(ABCA4):c.2461T>C (p.Trp821Arg) rs61749433
NM_000350.3(ABCA4):c.2464A>G (p.Ser822Gly)
NM_000350.3(ABCA4):c.2522A>C (p.Gln841Pro) rs2101067700
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>G (p.Tyr850Cys) rs143797418
NM_000350.3(ABCA4):c.2552G>A (p.Gly851Asp) rs61749436
NM_000350.3(ABCA4):c.2556del (p.Leu852fs) rs1660937747
NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter) rs61749438
NM_000350.3(ABCA4):c.2565_2572del (p.Trp855_Asp858delinsTer)
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.2571del (p.Asp858fs) rs61752407
NM_000350.3(ABCA4):c.2576_2579dup (p.Phe861fs) rs2101067575
NM_000350.3(ABCA4):c.2587+1G>A rs61749439
NM_000350.3(ABCA4):c.2587+2T>C rs1557783989
NM_000350.3(ABCA4):c.2588-7_2588-5delinsGG rs1660845802
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter) rs1570382663
NM_000350.3(ABCA4):c.2616_2617del (p.Phe873fs) rs62642560
NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter) rs1660843703
NM_000350.3(ABCA4):c.2653+2del rs766646086
NM_000350.3(ABCA4):c.2654-2A>C
NM_000350.3(ABCA4):c.2657del (p.Cys886fs)
NM_000350.3(ABCA4):c.265G>T (p.Glu89Ter)
NM_000350.3(ABCA4):c.2680dup (p.Leu894fs) rs1570380080
NM_000350.3(ABCA4):c.2692G>T (p.Glu898Ter) rs61749441
NM_000350.3(ABCA4):c.2713del (p.Glu905fs) rs869312184
NM_000350.3(ABCA4):c.2731_2732del (p.Glu911fs) rs1660761326
NM_000350.3(ABCA4):c.2741_2742del (p.His914fs) rs2101059717
NM_000350.3(ABCA4):c.2743G>A (p.Asp915Asn) rs139035971
NM_000350.3(ABCA4):c.2744-2A>G
NM_000350.3(ABCA4):c.2759G>A (p.Arg920His) rs376526710
NM_000350.3(ABCA4):c.2782G>T (p.Gly928Trp) rs398123337
NM_000350.3(ABCA4):c.2791G>T (p.Val931Leu) rs58331765
NM_000350.3(ABCA4):c.2798A>T (p.Asn933Ile) rs527236129
NM_000350.3(ABCA4):c.2802_2804del (p.Val935del)
NM_000350.3(ABCA4):c.2804T>C (p.Val935Ala) rs61749444
NM_000350.3(ABCA4):c.2807del (p.Lys936fs) rs2101057370
NM_000350.3(ABCA4):c.2818C>T (p.Pro940Ser)
NM_000350.3(ABCA4):c.2828G>T (p.Arg943Leu) rs1801581
NM_000350.3(ABCA4):c.2829del (p.Pro944fs) rs1660702616
NM_000350.3(ABCA4):c.2843G>C (p.Arg948Pro)
NM_000350.3(ABCA4):c.284C>T (p.Ser95Leu)
NM_000350.3(ABCA4):c.2857_2877del (p.Phe953_Thr959del)
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>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.287del (p.Asn96fs) rs1553196583
NM_000350.3(ABCA4):c.2888del (p.Gly963fs) rs61752410
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.2893A>G (p.Asn965Asp) rs61749449
NM_000350.3(ABCA4):c.2894A>T (p.Asn965Ile)
NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys) rs1570377861
NM_000350.3(ABCA4):c.2900C>T (p.Ala967Val) rs1291080436
NM_000350.3(ABCA4):c.2905A>C (p.Lys969Gln)
NM_000350.3(ABCA4):c.2905A>G (p.Lys969Glu) rs1660700260
NM_000350.3(ABCA4):c.2908del (p.Thr970fs) rs2101057076
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.2915C>A (p.Thr972Asn) rs61749451
NM_000350.3(ABCA4):c.2918+1060G>T rs763003887
NM_000350.3(ABCA4):c.2919-2A>G rs1660626613
NM_000350.3(ABCA4):c.291_292del (p.Tyr97_Asn98delinsTer)
NM_000350.3(ABCA4):c.2922_2949del (p.Ile975fs) rs2101053587
NM_000350.3(ABCA4):c.2927del (p.Leu976fs) rs863223338
NM_000350.3(ABCA4):c.2933G>A (p.Gly978Asp) rs61749453
NM_000350.3(ABCA4):c.2940G>C (p.Leu980Phe) rs886044734
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala) rs1368508052
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.2950T>C (p.Ser984Pro)
NM_000350.3(ABCA4):c.2953G>A (p.Gly985Arg)
NM_000350.3(ABCA4):c.2954G>T (p.Gly985Val) rs1660624360
NM_000350.3(ABCA4):c.296dup (p.Asn99fs) rs62645948
NM_000350.3(ABCA4):c.2972G>T (p.Gly991Val) rs1297410481
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.3017G>A (p.Gly1006Asp) rs1660620340
NM_000350.3(ABCA4):c.302+2T>G
NM_000350.3(ABCA4):c.302+4A>C rs1662599697
NM_000350.3(ABCA4):c.302+4A>G
NM_000350.3(ABCA4):c.302+6T>G rs1662599652
NM_000350.3(ABCA4):c.3022T>C (p.Cys1008Arg) rs1660620146
NM_000350.3(ABCA4):c.303-1G>T
NM_000350.3(ABCA4):c.303-3C>G
NM_000350.3(ABCA4):c.3050+1G>C
NM_000350.3(ABCA4):c.3050+5G>T
NM_000350.3(ABCA4):c.3051-19C>A rs375804885
NM_000350.3(ABCA4):c.3051-19C>G rs375804885
NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala) rs61749457
NM_000350.3(ABCA4):c.3062del (p.Ala1021fs) rs1570373408
NM_000350.3(ABCA4):c.3081T>G (p.Tyr1027Ter) rs1553190664
NM_000350.3(ABCA4):c.3083C>T (p.Ala1028Val) rs121909204
NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter) rs61751397
NM_000350.3(ABCA4):c.3089T>A (p.Leu1030Gln)
NM_000350.3(ABCA4):c.3093del (p.Gly1032fs) rs886044735
NM_000350.3(ABCA4):c.3098del (p.Lys1033fs) rs878853397
NM_000350.3(ABCA4):c.3117G>C (p.Gln1039His)
NM_000350.3(ABCA4):c.3119T>C (p.Leu1040Pro)
NM_000350.3(ABCA4):c.3169G>T (p.Glu1057Ter)
NM_000350.3(ABCA4):c.3179A>C (p.Gln1060Pro) rs772663974
NM_000350.3(ABCA4):c.3191-11T>A
NM_000350.3(ABCA4):c.3191-2A>G rs61752415
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
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.3259G>T (p.Glu1087Ter) rs61751398
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp) rs61752416
NM_000350.3(ABCA4):c.3262C>T (p.Pro1088Ser) rs1553190579
NM_000350.3(ABCA4):c.3263C>G (p.Pro1088Arg) rs1660531525
NM_000350.3(ABCA4):c.3264del (p.Thr1089fs)
NM_000350.3(ABCA4):c.3266C>A (p.Thr1089Asn) rs2101050605
NM_000350.3(ABCA4):c.3266C>T (p.Thr1089Ile)
NM_000350.3(ABCA4):c.3268T>C (p.Ser1090Pro) rs1131691351
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu) rs61752417
NM_000350.3(ABCA4):c.3279C>A (p.Asp1093Glu) rs1237125868
NM_000350.3(ABCA4):c.327dup (p.Gln110fs) rs61748531
NM_000350.3(ABCA4):c.3286_3287del (p.Ser1096fs)
NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu) rs763267492
NM_000350.3(ABCA4):c.3289A>T (p.Arg1097Ter) rs886044731
NM_000350.3(ABCA4):c.3291A>T (p.Arg1097Ser) rs61750118
NM_000350.3(ABCA4):c.3296C>G (p.Ser1099Ter) rs776773510
NM_000350.3(ABCA4):c.3299T>A (p.Ile1100Asn) rs1553190559
NM_000350.3(ABCA4):c.3302G>A (p.Trp1101Ter) rs373868915
NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter) rs61752419
NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr) rs138641544
NM_000350.3(ABCA4):c.3308T>G (p.Leu1103Arg)
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu) rs61750121
NM_000350.3(ABCA4):c.3323del (p.Arg1108fs) rs1660527879
NM_000350.3(ABCA4):c.3339C>T (p.Ile1113=)
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.3364G>T (p.Glu1122Ter)
NM_000350.3(ABCA4):c.3377T>C (p.Leu1126Pro) rs1047376
NM_000350.3(ABCA4):c.3378T>C (p.Leu1126=)
NM_000350.3(ABCA4):c.3379G>A (p.Gly1127Arg) rs1660481072
NM_000350.3(ABCA4):c.337C>G (p.Leu113Val)
NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu) rs1570370929
NM_000350.3(ABCA4):c.3383A>G (p.Asp1128Gly) rs1660480861
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.3398T>C (p.Ile1133Thr) rs1432207212
NM_000350.3(ABCA4):c.3407G>A (p.Gly1136Glu) rs1660480045
NM_000350.3(ABCA4):c.3413T>A (p.Leu1138His) rs1287053724
NM_000350.3(ABCA4):c.3415T>G (p.Tyr1139Asp) rs2101048577
NM_000350.3(ABCA4):c.341T>C (p.Met114Thr)
NM_000350.3(ABCA4):c.3422C>T (p.Ser1141Leu)
NM_000350.3(ABCA4):c.3449_3451del (p.Cys1150del) rs1570370826
NM_000350.3(ABCA4):c.346_347del (p.Ala116fs) rs1662507319
NM_000350.3(ABCA4):c.3470T>G (p.Leu1157Ter) rs2101048479
NM_000350.3(ABCA4):c.3510del (p.Gly1172fs)
NM_000350.3(ABCA4):c.3522+1G>A rs1265840106
NM_000350.3(ABCA4):c.3522+6T>C rs1570370713
NM_000350.3(ABCA4):c.3523-6T>C rs1660449701
NM_000350.3(ABCA4):c.3528C>T (p.Thr1176=)
NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs) rs886044736
NM_000350.3(ABCA4):c.3540_3555del (p.Ser1181fs) rs387906388
NM_000350.3(ABCA4):c.3540del (p.Ser1181fs) rs2101047075
NM_000350.3(ABCA4):c.3583_3584insGT (p.Leu1195fs) rs1660447204
NM_000350.3(ABCA4):c.3607+1G>A rs61752421
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg) rs1064793011
NM_000350.3(ABCA4):c.36G>A (p.Trp12Ter) rs761209432
NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter) rs746541266
NM_000350.3(ABCA4):c.3898del (p.Arg1300fs)
NM_000350.3(ABCA4):c.3941C>T (p.Pro1314Leu) rs2101037181
NM_000350.3(ABCA4):c.3965del (p.Pro1322fs)
NM_000350.3(ABCA4):c.396del (p.Leu132fs)
NM_000350.3(ABCA4):c.3977C>G (p.Ala1326Gly) rs761989194
NM_000350.3(ABCA4):c.4003_4004del (p.Pro1335fs) rs1571265241
NM_000350.3(ABCA4):c.4034A>G (p.Asn1345Ser)
NM_000350.3(ABCA4):c.4036_4037del (p.Thr1346fs) rs61751401
NM_000350.3(ABCA4):c.4070C>A (p.Ala1357Glu) rs552517556
NM_000350.3(ABCA4):c.4070C>G (p.Ala1357Gly)
NM_000350.3(ABCA4):c.4070C>T (p.Ala1357Val) rs552517556
NM_000350.3(ABCA4):c.4073T>C (p.Leu1358Pro) rs61752429
NM_000350.3(ABCA4):c.4079T>C (p.Val1360Ala)
NM_000350.3(ABCA4):c.4102C>T (p.Arg1368Cys) rs1183074086
NM_000350.3(ABCA4):c.4108del (p.His1370fs) rs1571265125
NM_000350.3(ABCA4):c.4128+1G>A rs2101036750
NM_000350.3(ABCA4):c.4128+8T>C rs1660211252
NM_000350.3(ABCA4):c.4128G>C (p.Gln1376His) rs1064797113
NM_000350.3(ABCA4):c.4129-1G>A rs1553189507
NM_000350.3(ABCA4):c.4129A>G (p.Ile1377Val) rs1327707460
NM_000350.3(ABCA4):c.4192G>A (p.Gly1398Ser)
NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter) rs62642573
NM_000350.3(ABCA4):c.419G>C (p.Arg140Pro) rs369105023
NM_000350.3(ABCA4):c.4200C>A (p.Tyr1400Ter)
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4204G>T (p.Ala1402Ser) rs554101094
NM_000350.3(ABCA4):c.4222del (p.Trp1408fs) rs1571264574
NM_000350.3(ABCA4):c.4225A>G (p.Ile1409Val) rs2101035728
NM_000350.3(ABCA4):c.4243A>C (p.Thr1415Pro) rs1571264551
NM_000350.3(ABCA4):c.4243dup (p.Thr1415fs)
NM_000350.3(ABCA4):c.4246TTC[1] (p.Phe1417del) rs1467000353
NM_000350.3(ABCA4):c.4253+1G>T rs61750139
NM_000350.3(ABCA4):c.4253+5G>T rs61750138
NM_000350.3(ABCA4):c.4254-17T>A
NM_000350.3(ABCA4):c.4254-1G>A rs886044740
NM_000350.3(ABCA4):c.4254-1G>C rs886044740
NM_000350.3(ABCA4):c.4265C>G (p.Pro1422Arg)
NM_000350.3(ABCA4):c.4269C>T (p.Gly1423=) rs778456901
NM_000350.3(ABCA4):c.4289T>C (p.Leu1430Pro)
NM_000350.3(ABCA4):c.428del (p.Pro143fs) rs1662504407
NM_000350.3(ABCA4):c.4309A>T (p.Lys1437Ter) rs1283350532
NM_000350.3(ABCA4):c.4313C>A (p.Pro1438Gln)
NM_000350.3(ABCA4):c.4316G>A (p.Gly1439Asp) rs61750140
NM_000350.3(ABCA4):c.4319T>C (p.Phe1440Ser) rs61750141
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+54A>G rs547806
NM_000350.3(ABCA4):c.4352+5G>T rs1660166597
NM_000350.3(ABCA4):c.4352+61G>A rs1478038032
NM_000350.3(ABCA4):c.4353-8T>G
NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter) rs886044742
NM_000350.3(ABCA4):c.4383G>C (p.Trp1461Cys) rs1347261858
NM_000350.3(ABCA4):c.438del (p.Ile146fs)
NM_000350.3(ABCA4):c.442+2T>A rs1662504014
NM_000350.3(ABCA4):c.4426A>G (p.Lys1476Glu)
NM_000350.3(ABCA4):c.443-2A>G
NM_000350.3(ABCA4):c.443-5_443-2del
NM_000350.3(ABCA4):c.4437G>A (p.Trp1479Ter) rs1660139846
NM_000350.3(ABCA4):c.443G>A (p.Gly148Glu)
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr) rs61750147
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.4517C>T (p.Ala1506Val)
NM_000350.3(ABCA4):c.452T>C (p.Ile151Thr) rs1012017728
NM_000350.3(ABCA4):c.4537del (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4539+1101G>A
NM_000350.3(ABCA4):c.4539+1321A>G
NM_000350.3(ABCA4):c.4539+1G>C
NM_000350.3(ABCA4):c.4539+1G>T rs61751388
NM_000350.3(ABCA4):c.4539+2000G>A rs1660073175
NM_000350.3(ABCA4):c.4539+2064C>T rs1553189179
NM_000350.3(ABCA4):c.4539+2066C>G rs1571261864
NM_000350.3(ABCA4):c.4539+2T>G
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.4540-2A>G rs61752435
NM_000350.3(ABCA4):c.4557G>A (p.Thr1519=)
NM_000350.3(ABCA4):c.4558G>C (p.Glu1520Gln)
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter) rs1553188916
NM_000350.3(ABCA4):c.4571del (p.Asp1524fs) rs2101027758
NM_000350.3(ABCA4):c.4574_4577dup (p.Arg1528fs)
NM_000350.3(ABCA4):c.4595A>T (p.Asp1532Val)
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser) rs1557770154
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter) rs62645957
NM_000350.3(ABCA4):c.4609del (p.Thr1537fs) rs1659998657
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.4615_4625del (p.Pro1539fs)
NM_000350.3(ABCA4):c.462G>A (p.Arg154=) rs1253706083
NM_000350.3(ABCA4):c.4634+1del rs1659997092
NM_000350.3(ABCA4):c.4635C>T (p.Ser1545=) rs886044744
NM_000350.3(ABCA4):c.4635del (p.Ser1545_Leu1546insTer) rs1659954489
NM_000350.3(ABCA4):c.4638A>T (p.Leu1546Phe)
NM_000350.3(ABCA4):c.4640del (p.Lys1547fs) rs886044745
NM_000350.3(ABCA4):c.4654dup (p.Val1552fs) rs1659953619
NM_000350.3(ABCA4):c.4663_4664del (p.Gln1555fs)
NM_000350.3(ABCA4):c.4667+1G>A rs751319688
NM_000350.3(ABCA4):c.4667+1G>C
NM_000350.3(ABCA4):c.4668-15C>T rs61754054
NM_000350.3(ABCA4):c.4668-2A>G rs1659914923
NM_000350.3(ABCA4):c.4670A>G (p.Tyr1557Cys) rs1401716074
NM_000350.3(ABCA4):c.4672G>A (p.Gly1558Arg) rs1659914711
NM_000350.3(ABCA4):c.481G>A (p.Glu161Lys) rs62645943
NM_000350.3(ABCA4):c.488T>G (p.Leu163Arg) rs1662328590
NM_000350.3(ABCA4):c.488_491del (p.Leu163fs) rs747950242
NM_000350.3(ABCA4):c.5026A>C (p.Thr1676Pro) rs753489583
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) rs62646872
NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe) rs201996979
NM_000350.3(ABCA4):c.5059del (p.Ile1687fs) rs1571256775
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro) rs61753020
NM_000350.3(ABCA4):c.5073del (p.Phe1692fs)
NM_000350.3(ABCA4):c.5080C>A (p.Pro1694Thr) rs1659843027
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.5153T>G (p.Val1718Gly) rs886044732
NM_000350.3(ABCA4):c.5158C>A (p.Pro1720Thr)
NM_000350.3(ABCA4):c.5161_5162del (p.Thr1721fs) rs61750566
NM_000350.3(ABCA4):c.5169C>G (p.Tyr1723Ter) rs1437993640
NM_000350.3(ABCA4):c.5171G>C (p.Trp1724Ser) rs1571256634
NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter) rs1557767754
NM_000350.3(ABCA4):c.5172G>T (p.Trp1724Cys) rs1557767754
NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs) rs1057518955
NM_000350.3(ABCA4):c.517dup (p.Leu173fs) rs1662327418
NM_000350.3(ABCA4):c.5180A>G (p.Asn1727Ser)
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter) rs886044747
NM_000350.3(ABCA4):c.5196+1013A>G rs886044748
NM_000350.3(ABCA4):c.5196+1056A>G rs886044749
NM_000350.3(ABCA4):c.5196+1136C>A rs114147805
NM_000350.3(ABCA4):c.5196+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.5208C>T (p.Ser1736=)
NM_000350.3(ABCA4):c.5222_5232del (p.Leu1741fs) rs61750569
NM_000350.3(ABCA4):c.5278C>A (p.Leu1760Ile)
NM_000350.3(ABCA4):c.5282C>G (p.Pro1761Arg) rs1057520212
NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp) rs121909206
NM_000350.3(ABCA4):c.5288T>C (p.Leu1763Pro) rs61753028
NM_000350.3(ABCA4):c.5289del (p.Val1764fs) rs1553188071
NM_000350.3(ABCA4):c.5308T>G (p.Tyr1770Asp) rs1195430987
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.5333T>A (p.Met1778Lys) rs748706582
NM_000350.3(ABCA4):c.5333_5336del (p.Met1778fs) rs1571253050
NM_000350.3(ABCA4):c.5335T>C (p.Tyr1779His)
NM_000350.3(ABCA4):c.5342C>A (p.Ala1781Glu)
NM_000350.3(ABCA4):c.5351T>C (p.Leu1784Pro)
NM_000350.3(ABCA4):c.5351T>G (p.Leu1784Arg) rs746252741
NM_000350.3(ABCA4):c.5363C>T (p.Pro1788Leu) rs886044751
NM_000350.3(ABCA4):c.5371dup (p.Ala1791fs)
NM_000350.3(ABCA4):c.5377G>A (p.Val1793Met) rs1659672463
NM_000350.3(ABCA4):c.5380G>C (p.Ala1794Pro) rs1571252997
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>A (p.Arg18Gln) rs868543294
NM_000350.3(ABCA4):c.53G>C (p.Arg18Pro) rs868543294
NM_000350.3(ABCA4):c.5400_5401del (p.Phe1801fs)
NM_000350.3(ABCA4):c.5418C>A (p.Ser1806Arg) rs1659670972
NM_000350.3(ABCA4):c.5420dup (p.Ser1807fs)
NM_000350.3(ABCA4):c.5423C>G (p.Ala1808Gly)
NM_000350.3(ABCA4):c.5423del (p.Ala1808fs)
NM_000350.3(ABCA4):c.5453del (p.Asn1818fs) rs2101013633
NM_000350.3(ABCA4):c.5460+1G>A rs61753030
NM_000350.3(ABCA4):c.5460+2T>C
NM_000350.3(ABCA4):c.5461-10T>G
NM_000350.3(ABCA4):c.5461-1G>T rs2101008577
NM_000350.3(ABCA4):c.5461-6T>C rs1659543067
NM_000350.3(ABCA4):c.5461-6T>G
NM_000350.3(ABCA4):c.5486T>C (p.Leu1829Pro)
NM_000350.3(ABCA4):c.5498T>G (p.Leu1833Arg)
NM_000350.3(ABCA4):c.5509C>G (p.Pro1837Ala)
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.5519G>C (p.Cys1840Ser) rs946348819
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp) rs62642576
NM_000350.3(ABCA4):c.5528_5533del (p.Arg1843_Gly1844del) rs1571250020
NM_000350.3(ABCA4):c.5530G>T (p.Gly1844Cys) rs2101008373
NM_000350.3(ABCA4):c.5558C>A (p.Ala1853Asp) rs886044753
NM_000350.3(ABCA4):c.5569_5570del (p.Val1857fs)
NM_000350.3(ABCA4):c.5575G>A (p.Ala1859Thr)
NM_000350.3(ABCA4):c.5580del (p.Phe1861fs) rs1659538743
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.5584G>A (p.Gly1862Ser) rs1659538637
NM_000350.3(ABCA4):c.559C>T (p.Arg187Cys)
NM_000350.3(ABCA4):c.5611C>T (p.His1871Tyr)
NM_000350.3(ABCA4):c.5637del (p.Phe1880fs)
NM_000350.3(ABCA4):c.5641del (p.Ala1881fs)
NM_000350.3(ABCA4):c.5646G>T (p.Met1882Ile) rs752160946
NM_000350.3(ABCA4):c.5653G>A (p.Glu1885Lys) rs62642563
NM_000350.3(ABCA4):c.5655del (p.Val1887fs) rs1659524475
NM_000350.3(ABCA4):c.5656G>A (p.Gly1886Arg) rs886044754
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+1818G>T
NM_000350.3(ABCA4):c.570+2T>G
NM_000350.3(ABCA4):c.5704dup (p.Leu1902fs)
NM_000350.3(ABCA4):c.571-2A>G rs61748534
NM_000350.3(ABCA4):c.571-2A>T rs61748534
NM_000350.3(ABCA4):c.571-7C>G
NM_000350.3(ABCA4):c.5714+103A>G
NM_000350.3(ABCA4):c.5714+19C>A rs1659521212
NM_000350.3(ABCA4):c.5714+1G>A rs1232476760
NM_000350.3(ABCA4):c.5714+1G>T rs1232476760
NM_000350.3(ABCA4):c.5719_5720delinsTT (p.Ala1907Phe) rs1659472146
NM_000350.3(ABCA4):c.571_580dup rs1662216783
NM_000350.3(ABCA4):c.5754T>C (p.Asp1918=)
NM_000350.3(ABCA4):c.5761del (p.Val1921fs)
NM_000350.3(ABCA4):c.5762_5763del (p.Val1921fs) rs1659469884
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.583G>A (p.Val195Ile)
NM_000350.3(ABCA4):c.583G>C (p.Val195Leu) rs1206857720
NM_000350.3(ABCA4):c.5846del (p.Gly1949fs) rs1659452428
NM_000350.3(ABCA4):c.5851T>C (p.Ser1951Pro)
NM_000350.3(ABCA4):c.5887C>A (p.Arg1963Ser)
NM_000350.3(ABCA4):c.5898+1G>A rs61750638
NM_000350.3(ABCA4):c.5898+5G>A
NM_000350.3(ABCA4):c.5899-1G>T rs1553187160
NM_000350.3(ABCA4):c.5899-2del rs1553187162
NM_000350.3(ABCA4):c.5905G>A (p.Gly1969Ser)
NM_000350.3(ABCA4):c.5907CCT[3] (p.Leu1971_Gly1972insLeu) rs1659430629
NM_000350.3(ABCA4):c.5909T>C (p.Leu1970Pro) rs886044756
NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg) rs61753034
NM_000350.3(ABCA4):c.5915del (p.Gly1972fs) rs1659430143
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) rs61751389
NM_000350.3(ABCA4):c.5923G>C (p.Gly1975Arg) rs61753036
NM_000350.3(ABCA4):c.5924G>T (p.Gly1975Val) rs1659429594
NM_000350.3(ABCA4):c.5926G>A (p.Ala1976Thr)
NM_000350.3(ABCA4):c.5929G>C (p.Gly1977Arg) 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.5951T>G (p.Met1984Arg) rs1259778135
NM_000350.3(ABCA4):c.5959_5964delinsTG (p.Thr1986_Gly1987insTer) rs1659427600
NM_000350.3(ABCA4):c.5977T>C (p.Ser1993Pro)
NM_000350.3(ABCA4):c.5977del (p.Ser1993fs) rs1659426620
NM_000350.3(ABCA4):c.6005+1G>A rs61748517
NM_000350.3(ABCA4):c.6005+1G>T rs61748517
NM_000350.3(ABCA4):c.6005+5G>A rs1331785486
NM_000350.3(ABCA4):c.6006-16G>A rs4147863
NM_000350.3(ABCA4):c.6006-1G>A
NM_000350.3(ABCA4):c.6006-609T>A
NM_000350.3(ABCA4):c.6007A>T (p.Ile2003Phe) rs1170554250
NM_000350.3(ABCA4):c.6044G>T (p.Gly2015Val)
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) rs886044758
NM_000350.3(ABCA4):c.6077del (p.Leu2026fs) rs1571245809
NM_000350.3(ABCA4):c.607_611del (p.Ile203fs)
NM_000350.3(ABCA4):c.6083C>G (p.Thr2028Arg)
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.6095A>G (p.His2032Arg) rs1242866408
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.6100del (p.Tyr2034fs)
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro) rs61750642
NM_000350.3(ABCA4):c.6107A>G (p.Tyr2036Cys) rs878853398
NM_000350.3(ABCA4):c.6110C>T (p.Ala2037Val) rs1659353253
NM_000350.3(ABCA4):c.6113G>C (p.Arg2038Pro) rs767729255
NM_000350.3(ABCA4):c.6146del (p.Lys2049fs) rs1659351261
NM_000350.3(ABCA4):c.6147G>A (p.Lys2049=)
NM_000350.3(ABCA4):c.6148-2A>G
NM_000350.3(ABCA4):c.6148-698_6670del
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter) rs61750644
NM_000350.3(ABCA4):c.6176G>A (p.Gly2059Asp)
NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg) rs61753039
NM_000350.3(ABCA4):c.6181_6184del (p.Thr2061fs) rs1659200106
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6191C>T (p.Ala2064Val) rs1362964563
NM_000350.3(ABCA4):c.61C>T (p.Gln21Ter) rs770272033
NM_000350.3(ABCA4):c.6208_6209delinsCA (p.Thr2070Gln) rs1659197672
NM_000350.3(ABCA4):c.6209C>G (p.Thr2070Arg)
NM_000350.3(ABCA4):c.6209C>T (p.Thr2070Met)
NM_000350.3(ABCA4):c.6213C>G (p.Tyr2071Ter) rs62642580
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6220G>T (p.Gly2074Cys)
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val) rs367839100
NM_000350.3(ABCA4):c.6221del (p.Gly2074fs) rs1571243037
NM_000350.3(ABCA4):c.6225C>G (p.Asn2075Lys)
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.6232A>C (p.Lys2078Gln) rs951379922
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6249C>G (p.Ile2083Met)
NM_000350.3(ABCA4):c.6252A>C (p.Ala2084=)
NM_000350.3(ABCA4):c.6257T>G (p.Ile2086Ser)
NM_000350.3(ABCA4):c.6282+3A>T
NM_000350.3(ABCA4):c.6283-2A>G
NM_000350.3(ABCA4):c.6283-3C>A
NM_000350.3(ABCA4):c.6285_6286inv (p.Glu2096Lys)
NM_000350.3(ABCA4):c.6287A>G (p.Glu2096Gly)
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.629del (p.Leu210fs) rs2101135952
NM_000350.3(ABCA4):c.6304G>C (p.Asp2102His)
NM_000350.3(ABCA4):c.6305A>C (p.Asp2102Ala)
NM_000350.3(ABCA4):c.6306C>A (p.Asp2102Glu) rs568627877
NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His) rs2100994049
NM_000350.3(ABCA4):c.6313del (p.Ala2105fs)
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.6329G>A (p.Trp2110Ter) rs62642565
NM_000350.3(ABCA4):c.6339C>G (p.Ile2113Met) rs61750649
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+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.6387-5C>A
NM_000350.3(ABCA4):c.6394G>T (p.Glu2132Ter)
NM_000350.3(ABCA4):c.6397T>C (p.Cys2133Arg)
NM_000350.3(ABCA4):c.639del (p.Phe213fs) rs1662213462
NM_000350.3(ABCA4):c.6401A>G (p.Glu2134Gly) rs2100993742
NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp) rs61750653
NM_000350.3(ABCA4):c.6419T>G (p.Leu2140Arg) rs774475956
NM_000350.3(ABCA4):c.6428T>A (p.Met2143Lys) rs1659153516
NM_000350.3(ABCA4):c.6446G>C (p.Arg2149Pro) rs61750655
NM_000350.3(ABCA4):c.6453G>T (p.Met2151Ile) rs1057518954
NM_000350.3(ABCA4):c.6454G>A (p.Gly2152Ser)
NM_000350.3(ABCA4):c.6454G>T (p.Gly2152Cys) rs1571241947
NM_000350.3(ABCA4):c.6455G>T (p.Gly2152Val) rs1659152504
NM_000350.3(ABCA4):c.6471del (p.Lys2158fs) rs1373168392
NM_000350.3(ABCA4):c.6473A>T (p.Lys2158Met)
NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu) rs1571241930
NM_000350.3(ABCA4):c.6479+1G>A
NM_000350.3(ABCA4):c.6479+5G>C
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=) rs61751379
NM_000350.3(ABCA4):c.6510dup (p.Ile2171fs) rs1659061509
NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg) rs886044762
NM_000350.3(ABCA4):c.652_660del (p.Gln218_Arg220del)
NM_000350.3(ABCA4):c.6545_6580del (p.Leu2182_Phe2193del) rs63749058
NM_000350.3(ABCA4):c.655A>T (p.Arg219Ter) rs757557272
NM_000350.3(ABCA4):c.6601_6602del (p.Arg2201fs) rs61751409
NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter) rs61753045
NM_000350.3(ABCA4):c.6620A>G (p.Gln2207Arg)
NM_000350.3(ABCA4):c.6632C>T (p.Ser2211Phe)
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.3(ABCA4):c.6666C>T (p.Leu2222=)
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) rs63749055
NM_000350.3(ABCA4):c.6698A>T (p.Glu2233Val) rs2100987881
NM_000350.3(ABCA4):c.67-1G>C rs778908435
NM_000350.3(ABCA4):c.67-1dup
NM_000350.3(ABCA4):c.67-2A>G rs398123339
NM_000350.3(ABCA4):c.6705dup (p.Val2236fs)
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.6735del (p.Phe2245fs)
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>G (p.Leu2258Val)
NM_000350.3(ABCA4):c.6772C>T (p.Leu2258Phe)
NM_000350.3(ABCA4):c.6816+2T>A rs112005636
NM_000350.3(ABCA4):c.6816G>A (p.Gln2272=)
NM_000350.3(ABCA4):c.6817-2A>G rs1658918693
NM_000350.3(ABCA4):c.6820T>A (p.Ter2274Arg) rs1658918432
NM_000350.3(ABCA4):c.688T>A (p.Cys230Ser) rs1057518767
NM_000350.3(ABCA4):c.689G>T (p.Cys230Phe)
NM_000350.3(ABCA4):c.699_768+341del rs1662191792
NM_000350.3(ABCA4):c.712C>T (p.Gln238Ter) rs1356104318
NM_000350.3(ABCA4):c.716G>A (p.Trp239Ter) rs755733328
NM_000350.3(ABCA4):c.717G>T (p.Trp239Cys)
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.740A>C (p.Asn247Thr)
NM_000350.3(ABCA4):c.746A>G (p.Asp249Gly) rs62646865
NM_000350.3(ABCA4):c.749del (p.Phe250fs)
NM_000350.3(ABCA4):c.758T>A (p.Leu253His) rs2101135424
NM_000350.3(ABCA4):c.768+1G>A
NM_000350.3(ABCA4):c.769-605T>C
NM_000350.3(ABCA4):c.769-784C>T
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.834del (p.Asp279fs) rs779743222
NM_000350.3(ABCA4):c.853C>T (p.Gln285Ter) rs886041951
NM_000350.3(ABCA4):c.859-13T>C rs1246188478
NM_000350.3(ABCA4):c.859-14_859-13del rs1661673887
NM_000350.3(ABCA4):c.859-9T>C rs529598960
NM_000350.3(ABCA4):c.86T>G (p.Leu29Arg) rs886044719
NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter) rs794727903
NM_000350.3(ABCA4):c.905C>T (p.Pro302Leu)
NM_000350.3(ABCA4):c.911_937del (p.Met304_Phe312del) rs1440228037
NM_000350.3(ABCA4):c.913C>T (p.Gln305Ter) rs1661669685
NM_000350.3(ABCA4):c.93G>A (p.Trp31Ter) rs1191816747
NM_000350.3(ABCA4):c.947T>C (p.Met316Thr)
NM_000350.3(ABCA4):c.956T>G (p.Leu319Arg) rs886044723
NM_000350.3(ABCA4):c.95CTTTAT[1] (p.Ser34_Leu35del) rs745925619
NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter) rs61751418
NM_000350.3(ABCA4):c.983A>T (p.Glu328Val) rs61751419
NM_000350.3(ABCA4):c.[1411G>A;5693G>A]
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]
NM_000350.3:c.(1554+1_1555-1)_(1937+1_1938-1)del
NM_000350.3:c.(2918+1_2919-1)_(3328+1_3329-1)del
NM_000350.3:c.(570+1_571-1)_(768+1_769-1)del
NM_000350.3:c.1876_1999del

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.