ClinVar Miner

List of variants in gene ABCA4 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 910
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HGVS dbSNP gnomAD frequency
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.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
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.2966T>C (p.Val989Ala) rs61749454 0.00089
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_000350.3(ABCA4):c.6730-19G>A rs375179475 0.00052
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.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.2930C>T (p.Thr977Met) rs148015012 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.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.1592A>G (p.Glu531Gly) rs145718830 0.00020
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120 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.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.2431C>T (p.Arg811Cys) rs758777521 0.00009
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.634C>T (p.Arg212Cys) rs61750200 0.00008
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.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.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.1208A>T (p.Asp403Val) rs913030626 0.00004
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter) rs61748550 0.00004
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.4539+2028C>T rs869320785 0.00004
NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln) rs61753021 0.00004
NM_000350.3(ABCA4):c.5242G>A (p.Gly1748Arg) rs61753025 0.00004
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val) rs369973540 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.1609C>T (p.Arg537Cys) rs61748556 0.00003
NM_000350.3(ABCA4):c.1937+1G>A rs61752401 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.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.1906C>T (p.Gln636Ter) rs145961131 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.3050+5G>A rs61751262 0.00002
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met) rs201855602 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.3898C>T (p.Arg1300Ter) rs61752427 0.00002
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402 0.00002
NM_000350.3(ABCA4):c.6109G>A (p.Ala2037Thr) rs756555985 0.00002
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln) rs767729255 0.00002
NM_000350.3(ABCA4):c.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.869G>A (p.Arg290Gln) rs959119236 0.00002
NM_000350.3(ABCA4):c.885del (p.Leu296fs) rs764759172 0.00002
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420 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.1529T>C (p.Leu510Pro) rs886039299 0.00001
NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter) rs886044727 0.00001
NM_000350.3(ABCA4):c.161-1G>C rs1231942062 0.00001
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558 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.183G>C (p.Met61Ile) rs750987349 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.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.290A>G (p.Tyr97Cys) rs755691060 0.00001
NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro) rs61748530 0.00001
NM_000350.3(ABCA4):c.3004C>T (p.Arg1002Trp) rs757678409 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.3094G>C (p.Gly1032Arg) rs771495707 0.00001
NM_000350.3(ABCA4):c.3149G>A (p.Gly1050Asp) rs61750062 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.3211T>C (p.Ser1071Pro) rs781332563 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.3260A>G (p.Glu1087Gly) rs1278743459 0.00001
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) rs62645946 0.00001
NM_000350.3(ABCA4):c.3329-2A>T rs1324958803 0.00001
NM_000350.3(ABCA4):c.3335C>A (p.Thr1112Asn) rs61750122 0.00001
NM_000350.3(ABCA4):c.3344T>C (p.Met1115Thr) rs376947008 0.00001
NM_000350.3(ABCA4):c.3352C>T (p.His1118Tyr) rs369440533 0.00001
NM_000350.3(ABCA4):c.3403C>T (p.Gln1135Ter) rs1057517701 0.00001
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His) rs768278935 0.00001
NM_000350.3(ABCA4):c.3874C>T (p.Gln1292Ter) rs61752426 0.00001
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter) rs61752428 0.00001
NM_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr) rs754899711 0.00001
NM_000350.3(ABCA4):c.4102C>G (p.Arg1368Gly) rs1183074086 0.00001
NM_000350.3(ABCA4):c.4177G>A (p.Val1393Ile) rs1045163391 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.4352+1G>A rs200967229 0.00001
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368 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.4532C>A (p.Pro1511His) rs886046564 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.5070G>A (p.Met1690Ile) rs1659843366 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.5138A>G (p.Gln1713Arg) rs755826006 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.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.5460+1G>T rs61753030 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.560G>A (p.Arg187His) rs202198282 0.00001
NM_000350.3(ABCA4):c.564del (p.Glu189fs) rs886044148 0.00001
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) rs61750639 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.6190G>A (p.Ala2064Thr) rs61753040 0.00001
NM_000350.3(ABCA4):c.6230G>A (p.Arg2077Gln) rs886044759 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.6563T>C (p.Phe2188Ser) rs61750658 0.00001
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) rs61748538 0.00001
NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro) rs61750659 0.00001
NM_000350.3(ABCA4):c.700C>T (p.Gln234Ter) rs1330135890 0.00001
NM_000350.3(ABCA4):c.859-546G>A rs1316240731 0.00001
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp) rs781716640 0.00001
NM_000350.3(ABCA4):c.95C>T (p.Pro32Leu) rs1428504985 0.00001
NC_000001.10:g.(?_94458738)_(94505703_?)del
NC_000001.10:g.(?_94458793)_(94467568_?)del
NC_000001.10:g.(?_94458793)_(94512669_?)del
NC_000001.10:g.(?_94462147)_(94586601_?)del
NC_000001.10:g.(?_94463397)_(94549017_?)del
NC_000001.10:g.(?_94463476)_(94468246_?)del
NC_000001.10:g.(?_94466134)_(94466631_?)del
NC_000001.10:g.(?_94474287)_(94474447_?)del
NC_000001.10:g.(?_94476336)_(94476961_?)del
NC_000001.10:g.(?_94483475)_(94488958_?)del
NC_000001.10:g.(?_94505221)_(94508448_?)del
NC_000001.10:g.(?_94506745)_(94517274_?)del
NC_000001.10:g.(?_94508297)_(94511126_?)del
NC_000001.10:g.(?_94512455)_(94586601_?)del
NC_000001.10:g.(?_94514404)_(94514533_?)del
NC_000001.10:g.(?_94520647)_(94520891_?)del
NC_000001.10:g.(?_94525884)_(94528259_?)del
NC_000001.10:g.(?_94526073)_(94528893_?)del
NC_000001.10:g.(?_94528648)_(94528893_?)del
NC_000001.10:g.(?_94530866)_(94544327_?)del
NC_000001.10:g.(?_94543246)_(94544262_?)del
NC_000001.10:g.(?_94564009)_(94564419_?)del
NC_000001.10:g.(?_94564330)_(94564567_?)del
NC_000001.10:g.(?_94564330)_(94574292_?)del
NC_000001.10:g.(?_94568551)_(94568718_?)del
NC_000001.10:g.(?_94574113)_(94578642_?)del
NC_000001.10:g.(?_94586516)_(94586601_?)del
NC_000001.11:g.(?_94041209)_(94043475_?)del
NC_000001.11:g.(?_94048868)_(94048957_?)del
NC_000001.11:g.(?_94062577)_(94063317_?)del
NC_000001.11:g.94025047CT[1] rs2101027818
NC_000001.11:g.94051699del
NC_000001.11:g.94078589CT[3]
NM_000350.3(ABCA4):c.1006T>C (p.Ser336Pro) rs2101106736
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.1022A>G (p.Glu341Gly) rs2101106686
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs) rs63749083
NM_000350.3(ABCA4):c.1032_1043del (p.Tyr345_Phe348del)
NM_000350.3(ABCA4):c.1034A>C (p.Tyr345Ser)
NM_000350.3(ABCA4):c.1034A>G (p.Tyr345Cys) rs1417184535
NM_000350.3(ABCA4):c.1043T>G (p.Phe348Cys)
NM_000350.3(ABCA4):c.1050del (p.Ile351fs)
NM_000350.3(ABCA4):c.1066A>T (p.Lys356Ter) rs61751391
NM_000350.3(ABCA4):c.1069_1075del (p.Asp357fs) rs2101106559
NM_000350.3(ABCA4):c.1077_1080dup (p.Ser361fs) rs1661660701
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter) rs61752390
NM_000350.3(ABCA4):c.108del (p.Leu37fs) rs62642569
NM_000350.3(ABCA4):c.1095_1096insCAATATCTATAAGGCCTTTCTGGGGATTGACTCCACAAGGAAGGATCCTATCTATTCTTATGACAGAAGA (p.Thr366delinsGlnTyrLeuTer)
NM_000350.3(ABCA4):c.1099+1G>C
NM_000350.3(ABCA4):c.1099+2T>G rs2101106481
NM_000350.3(ABCA4):c.1100-2A>T rs886042034
NM_000350.3(ABCA4):c.1118del (p.Ala372_Leu373insTer) rs2101104619
NM_000350.3(ABCA4):c.1132G>T (p.Glu378Ter)
NM_000350.3(ABCA4):c.1198_1207del (p.Tyr400fs)
NM_000350.3(ABCA4):c.1211C>G (p.Ser404Ter) rs150686179
NM_000350.3(ABCA4):c.1225del (p.Arg409fs) rs387906387
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter) rs61751410
NM_000350.3(ABCA4):c.1232T>C (p.Leu411Pro) rs1661623028
NM_000350.3(ABCA4):c.1237A>T (p.Asn413Tyr) rs763545409
NM_000350.3(ABCA4):c.1239+1G>A
NM_000350.3(ABCA4):c.1240-1G>A
NM_000350.3(ABCA4):c.1244A>G (p.Asn415Ser)
NM_000350.3(ABCA4):c.1289C>A (p.Ala430Asp)
NM_000350.3(ABCA4):c.1293G>C (p.Trp431Cys) rs886044725
NM_000350.3(ABCA4):c.1302del (p.Gln437fs) rs1448468321
NM_000350.3(ABCA4):c.1317G>A (p.Trp439Ter) rs61752391
NM_000350.3(ABCA4):c.1320C>A (p.Tyr440Ter)
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys) rs777078540
NM_000350.3(ABCA4):c.1344del (p.Met448fs) rs61748554
NM_000350.3(ABCA4):c.1363del (p.Leu455fs) rs2101101428
NM_000350.3(ABCA4):c.1368dup (p.Asn457fs) rs2101101390
NM_000350.3(ABCA4):c.1382_1383del (p.Lys461fs)
NM_000350.3(ABCA4):c.1390_1391del (p.Leu464fs) rs61748555
NM_000350.3(ABCA4):c.1391T>A (p.Leu464Ter) rs2101101348
NM_000350.3(ABCA4):c.1399C>T (p.Gln467Ter) rs1661578607
NM_000350.3(ABCA4):c.1417_1420dup (p.Thr474fs) rs1661578005
NM_000350.3(ABCA4):c.1442del (p.Phe481fs) rs2101101226
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.1510A>C (p.Asn504His) rs1243753206
NM_000350.3(ABCA4):c.1552G>T (p.Glu518Ter) rs369860406
NM_000350.3(ABCA4):c.1561del (p.Val521fs) rs1279522242
NM_000350.3(ABCA4):c.1569del (p.Asp523fs) rs2101079417
NM_000350.3(ABCA4):c.1574T>C (p.Phe525Ser)
NM_000350.3(ABCA4):c.1574T>G (p.Phe525Cys)
NM_000350.3(ABCA4):c.157G>T (p.Glu53Ter)
NM_000350.3(ABCA4):c.1586_1587del (p.Asn529fs) rs2101079369
NM_000350.3(ABCA4):c.160+5G>A
NM_000350.3(ABCA4):c.160+5G>C rs1064793004
NM_000350.3(ABCA4):c.161-1G>A
NM_000350.3(ABCA4):c.161-23T>A
NM_000350.3(ABCA4):c.1612G>A (p.Ala538Thr)
NM_000350.3(ABCA4):c.1644G>A (p.Trp548Ter)
NM_000350.3(ABCA4):c.164A>G (p.His55Arg)
NM_000350.3(ABCA4):c.1659C>G (p.Phe553Leu) rs61752396
NM_000350.3(ABCA4):c.1696del (p.His566fs) rs756623639
NM_000350.3(ABCA4):c.1712T>C (p.Ile571Thr)
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.1730del (p.Val577fs) rs2101079061
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.1757del (p.Asp586fs) rs2101079010
NM_000350.3(ABCA4):c.1760+1G>A
NM_000350.3(ABCA4):c.1760+2T>C
NM_000350.3(ABCA4):c.1760+2T>G rs61751385
NM_000350.3(ABCA4):c.1761-1G>A
NM_000350.3(ABCA4):c.1765del (p.Trp589fs) rs1557787559
NM_000350.3(ABCA4):c.1766G>A (p.Trp589Ter) rs2101078482
NM_000350.3(ABCA4):c.1767G>A (p.Trp589Ter)
NM_000350.3(ABCA4):c.1791del (p.Val598fs) rs1661166046
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.1808A>G (p.Tyr603Cys)
NM_000350.3(ABCA4):c.1809del (p.Arg602_Tyr603insTer)
NM_000350.3(ABCA4):c.180del (p.Met61fs)
NM_000350.3(ABCA4):c.1813del (p.Trp605fs) rs1661165160
NM_000350.3(ABCA4):c.1814G>A (p.Trp605Ter) rs2101078370
NM_000350.3(ABCA4):c.1819G>C (p.Gly607Arg) rs61749412
NM_000350.3(ABCA4):c.182T>C (p.Met61Thr)
NM_000350.3(ABCA4):c.1832T>C (p.Leu611Pro)
NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter) rs1057517700
NM_000350.3(ABCA4):c.183G>A (p.Met61Ile)
NM_000350.3(ABCA4):c.1843del (p.Val615fs)
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys) rs1557787473
NM_000350.3(ABCA4):c.184C>G (p.Pro62Ala)
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.1873C>T (p.Gln625Ter) rs878853396
NM_000350.3(ABCA4):c.1874_1912del (p.Gln625_Met637del)
NM_000350.3(ABCA4):c.1888del (p.Val630fs)
NM_000350.3(ABCA4):c.188_197del (p.Ser63fs)
NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg) rs886044730
NM_000350.3(ABCA4):c.1892G>A (p.Gly631Glu)
NM_000350.3(ABCA4):c.1892G>T (p.Gly631Val)
NM_000350.3(ABCA4):c.1906C>A (p.Gln636Lys)
NM_000350.3(ABCA4):c.1908G>T (p.Gln636His) rs61752400
NM_000350.3(ABCA4):c.1913C>T (p.Pro638Leu) rs1440824352
NM_000350.3(ABCA4):c.1917C>A (p.Tyr639Ter) rs61749415
NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu) rs760790294
NM_000350.3(ABCA4):c.1924T>A (p.Phe642Ile) rs2101078030
NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn) rs61749418
NM_000350.3(ABCA4):c.1933G>T (p.Asp645Tyr)
NM_000350.3(ABCA4):c.1937+1G>C
NM_000350.3(ABCA4):c.1937+435C>G rs1570392557
NM_000350.3(ABCA4):c.1937+5G>A rs536864160
NM_000350.3(ABCA4):c.1938-619A>G rs2101076246
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu) rs62654395
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.1995C>G (p.Tyr665Ter)
NM_000350.3(ABCA4):c.1A>T (p.Met1Leu)
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs) rs61749422
NM_000350.3(ABCA4):c.2019_2031del (p.Ser673fs)
NM_000350.3(ABCA4):c.2034G>T (p.Lys678Asn) rs1376036671
NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg) rs62654397
NM_000350.3(ABCA4):c.2040del (p.Leu680fs) rs1661097693
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter) rs61749423
NM_000350.3(ABCA4):c.2063del (p.Asn688fs)
NM_000350.3(ABCA4):c.2069G>A (p.Gly690Asp) rs942734318
NM_000350.3(ABCA4):c.2069del (p.Gly690fs) rs2101075191
NM_000350.3(ABCA4):c.2081del (p.Ala694fs)
NM_000350.3(ABCA4):c.2099G>A (p.Trp700Ter) rs61749425
NM_000350.3(ABCA4):c.2105T>C (p.Leu702Pro)
NM_000350.3(ABCA4):c.215G>A (p.Gly72Glu)
NM_000350.3(ABCA4):c.215G>T (p.Gly72Val) rs2101162548
NM_000350.3(ABCA4):c.2160+1G>C rs61749427
NM_000350.3(ABCA4):c.2161-8G>A rs1660996754
NM_000350.3(ABCA4):c.2184C>A (p.Ser728Arg) rs776910485
NM_000350.3(ABCA4):c.2239del (p.Leu747fs) rs2101069863
NM_000350.3(ABCA4):c.2261T>C (p.Phe754Ser)
NM_000350.3(ABCA4):c.2261TCT[1] (p.Phe755del)
NM_000350.3(ABCA4):c.2265C>G (p.Phe755Leu)
NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn) rs61749429
NM_000350.3(ABCA4):c.2294G>C (p.Ser765Thr) rs61749429
NM_000350.3(ABCA4):c.2294GTG[1] (p.Gly766del) rs2101069736
NM_000350.3(ABCA4):c.2295T>G (p.Ser765Arg) rs61752404
NM_000350.3(ABCA4):c.2353C>G (p.Arg785Gly) rs781254854
NM_000350.3(ABCA4):c.237T>A (p.Asn79Lys)
NM_000350.3(ABCA4):c.2382+1G>A rs1660983058
NM_000350.3(ABCA4):c.2382+1G>C rs1660983058
NM_000350.3(ABCA4):c.2382+4A>G
NM_000350.3(ABCA4):c.2384G>A (p.Ser795Asn)
NM_000350.3(ABCA4):c.2385_2400del (p.Ser795fs) rs281865399
NM_000350.3(ABCA4):c.2395_2396dup (p.Val800fs) rs1660945616
NM_000350.3(ABCA4):c.2408del (p.Gly803fs) rs1570386206
NM_000350.3(ABCA4):c.240_241del (p.Cys81fs)
NM_000350.3(ABCA4):c.2424C>G (p.Tyr808Ter)
NM_000350.3(ABCA4):c.2443C>T (p.Gln815Ter) rs140671840
NM_000350.3(ABCA4):c.2522A>C (p.Gln841Pro) rs2101067700
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val) rs779466403
NM_000350.3(ABCA4):c.2545_2548del (p.Val849fs) rs2101067647
NM_000350.3(ABCA4):c.256_257del (p.Thr86fs)
NM_000350.3(ABCA4):c.2570T>C (p.Leu857Pro) rs768435443
NM_000350.3(ABCA4):c.2587+2T>C rs1557783989
NM_000350.3(ABCA4):c.2603del (p.Pro868fs) rs751791095
NM_000350.3(ABCA4):c.260del (p.Pro87fs) rs2101162359
NM_000350.3(ABCA4):c.2616C>G (p.Tyr872Ter)
NM_000350.3(ABCA4):c.2616del (p.Leu874fs) rs1660844241
NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter) rs1660843703
NM_000350.3(ABCA4):c.2639G>A (p.Trp880Ter)
NM_000350.3(ABCA4):c.2674del (p.Arg892fs)
NM_000350.3(ABCA4):c.2688del (p.Thr897fs)
NM_000350.3(ABCA4):c.2691del (p.Glu898fs) rs1660762877
NM_000350.3(ABCA4):c.2713del (p.Glu905fs) rs869312184
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.2774G>A (p.Trp925Ter)
NM_000350.3(ABCA4):c.2785dup (p.Val929fs)
NM_000350.3(ABCA4):c.2790C>A (p.Cys930Ter)
NM_000350.3(ABCA4):c.2804T>C (p.Val935Ala) rs61749444
NM_000350.3(ABCA4):c.2807del (p.Lys936fs) rs2101057370
NM_000350.3(ABCA4):c.2820del (p.Cys941fs)
NM_000350.3(ABCA4):c.2823T>A (p.Cys941Ter)
NM_000350.3(ABCA4):c.2829del (p.Pro944fs) rs1660702616
NM_000350.3(ABCA4):c.2861A>C (p.Tyr954Ser) rs1660701838
NM_000350.3(ABCA4):c.2862C>G (p.Tyr954Ter)
NM_000350.3(ABCA4):c.2864A>G (p.Glu955Gly)
NM_000350.3(ABCA4):c.2864del (p.Glu955fs)
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.2870A>C (p.Gln957Pro) rs61749448
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala) rs368846708
NM_000350.3(ABCA4):c.2879del (p.Ala960fs) rs2101057149
NM_000350.3(ABCA4):c.287A>T (p.Asn96Ile) rs2101162260
NM_000350.3(ABCA4):c.287del (p.Asn96fs) rs1553196583
NM_000350.3(ABCA4):c.2888del (p.Gly963fs) rs61752410
NM_000350.3(ABCA4):c.288C>A (p.Asn96Lys) rs886039297
NM_000350.3(ABCA4):c.2891del (p.His964fs)
NM_000350.3(ABCA4):c.2900C>T (p.Ala967Val) rs1291080436
NM_000350.3(ABCA4):c.2902G>A (p.Gly968Arg) rs794727220
NM_000350.3(ABCA4):c.2902G>C (p.Gly968Arg)
NM_000350.3(ABCA4):c.2905A>G (p.Lys969Glu) rs1660700260
NM_000350.3(ABCA4):c.2908del (p.Thr970fs) rs2101057076
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+5G>A
NM_000350.3(ABCA4):c.2939T>A (p.Leu980Ter)
NM_000350.3(ABCA4):c.2946_2949del (p.Thr983fs) rs2101053584
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.2967del (p.Gly991fs) rs2101053527
NM_000350.3(ABCA4):c.296dup (p.Asn99fs) rs62645948
NM_000350.3(ABCA4):c.2971G>A (p.Gly991Arg)
NM_000350.3(ABCA4):c.2971G>T (p.Gly991Ter) rs61749455
NM_000350.3(ABCA4):c.2972G>T (p.Gly991Val) rs1297410481
NM_000350.3(ABCA4):c.2972del (p.Gly991fs)
NM_000350.3(ABCA4):c.2980_2987del (p.Ile994fs) rs1306732480
NM_000350.3(ABCA4):c.2T>C (p.Met1Thr)
NM_000350.3(ABCA4):c.3006del (p.Gln1003fs) rs2101053424
NM_000350.3(ABCA4):c.302+4A>C rs1662599697
NM_000350.3(ABCA4):c.3028C>T (p.Gln1010Ter) rs1660619835
NM_000350.3(ABCA4):c.3032ACA[1] (p.Asn1012del)
NM_000350.3(ABCA4):c.3050+1G>A rs1660619132
NM_000350.3(ABCA4):c.3050+1G>C
NM_000350.3(ABCA4):c.3050+2T>C
NM_000350.3(ABCA4):c.3050+370C>T
NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala) rs61749457
NM_000350.3(ABCA4):c.3059_3060insA (p.Ala1021fs)
NM_000350.3(ABCA4):c.3062del (p.Ala1021fs) rs1570373408
NM_000350.3(ABCA4):c.3064G>T (p.Glu1022Ter) rs61749459
NM_000350.3(ABCA4):c.3065A>G (p.Glu1022Gly)
NM_000350.3(ABCA4):c.3081T>G (p.Tyr1027Ter) rs1553190664
NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter) rs61751397
NM_000350.3(ABCA4):c.3091A>T (p.Lys1031Ter) rs61750060
NM_000350.3(ABCA4):c.3093del (p.Gly1032fs) rs886044735
NM_000350.3(ABCA4):c.30_32del (p.Leu10_Leu11delinsPhe)
NM_000350.3(ABCA4):c.3103dup (p.Gln1035fs)
NM_000350.3(ABCA4):c.3117dup (p.Leu1040fs) rs2101051468
NM_000350.3(ABCA4):c.3139del (p.Glu1047fs) rs886042904
NM_000350.3(ABCA4):c.3146_3147del (p.Thr1049fs)
NM_000350.3(ABCA4):c.3179A>C (p.Gln1060Pro) rs772663974
NM_000350.3(ABCA4):c.318T>G (p.Tyr106Ter)
NM_000350.3(ABCA4):c.3190G>A (p.Gly1064Ser) rs2101051331
NM_000350.3(ABCA4):c.3191-2A>G rs61752415
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.3241_3253delinsTTTGTGGGAGATG (p.Lys1081_Leu1085delinsPheValGlyAspVal) rs1660531880
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.3266C>T (p.Thr1089Ile)
NM_000350.3(ABCA4):c.3275_3276insTGGAGGGGGT (p.Asp1093fs)
NM_000350.3(ABCA4):c.3277G>A (p.Asp1093Asn) rs2101050587
NM_000350.3(ABCA4):c.3280C>A (p.Pro1094Thr)
NM_000350.3(ABCA4):c.3281C>A (p.Pro1094His) rs2101050573
NM_000350.3(ABCA4):c.3281C>G (p.Pro1094Arg)
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.328C>T (p.Gln110Ter) rs2101156053
NM_000350.3(ABCA4):c.328delinsNNNNNNNNNNNAAAAAAAAAAA (p.Gln110delinsXaaXaaXaaXaaLysLysLysLys) rs2101156061
NM_000350.3(ABCA4):c.3295T>C (p.Ser1099Pro) rs61750119
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.3299T>C (p.Ile1100Thr) rs1553190559
NM_000350.3(ABCA4):c.3300C>G (p.Ile1100Met) rs2101050504
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.3305A>T (p.Asp1102Val) rs143689372
NM_000350.3(ABCA4):c.3308T>C (p.Leu1103Pro)
NM_000350.3(ABCA4):c.3308T>G (p.Leu1103Arg)
NM_000350.3(ABCA4):c.331_332del (p.Glu111fs) rs749252902
NM_000350.3(ABCA4):c.331del (p.Glu111fs) rs2101156021
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu) rs61750121
NM_000350.3(ABCA4):c.3326dup (p.Gly1110fs)
NM_000350.3(ABCA4):c.3352C>G (p.His1118Asp) rs369440533
NM_000350.3(ABCA4):c.3377T>C (p.Leu1126Pro) rs1047376
NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu) rs1570370929
NM_000350.3(ABCA4):c.3384C>A (p.Asp1128Glu)
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.3392_3393delinsG (p.Ala1131fs)
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.3407G>T (p.Gly1136Val) rs1660480045
NM_000350.3(ABCA4):c.3413T>A (p.Leu1138His) rs1287053724
NM_000350.3(ABCA4):c.3420C>G (p.Cys1140Trp) rs2101048569
NM_000350.3(ABCA4):c.3470T>G (p.Leu1157Ter) rs2101048479
NM_000350.3(ABCA4):c.3522+1G>A rs1265840106
NM_000350.3(ABCA4):c.3522+1G>T
NM_000350.3(ABCA4):c.3522+5del
NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs) rs886044736
NM_000350.3(ABCA4):c.3531C>A (p.Cys1177Ter) rs61750125
NM_000350.3(ABCA4):c.3532del (p.Ser1178fs) rs2101047091
NM_000350.3(ABCA4):c.3543del (p.Lys1182fs)
NM_000350.3(ABCA4):c.355_356del (p.Ser119fs)
NM_000350.3(ABCA4):c.3564T>A (p.Cys1188Ter) rs2101047010
NM_000350.3(ABCA4):c.3564_3566delinsAAG (p.Cys1188_Pro1189delinsTer)
NM_000350.3(ABCA4):c.358_361del (p.Gln120fs)
NM_000350.3(ABCA4):c.3594del (p.Glu1198fs)
NM_000350.3(ABCA4):c.3595C>T (p.Gln1199Ter) rs137853898
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg) rs1064793011
NM_000350.3(ABCA4):c.365_366insCA (p.Gly123fs)
NM_000350.3(ABCA4):c.36G>A (p.Trp12Ter) rs761209432
NM_000350.3(ABCA4):c.377G>A (p.Trp126Ter)
NM_000350.3(ABCA4):c.378G>A (p.Trp126Ter)
NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter) rs746541266
NM_000350.3(ABCA4):c.3907del (p.Cys1303fs)
NM_000350.3(ABCA4):c.3928_3932dup (p.Gln1312fs) rs2101037211
NM_000350.3(ABCA4):c.3934dup (p.Gln1312fs) rs1660218703
NM_000350.3(ABCA4):c.3943C>T (p.Gln1315Ter) rs1660218357
NM_000350.3(ABCA4):c.3951del (p.Asn1318fs) rs2101037158
NM_000350.3(ABCA4):c.3970del (p.Ala1324fs) rs1660217584
NM_000350.3(ABCA4):c.3986del (p.Pro1329fs)
NM_000350.3(ABCA4):c.3988G>T (p.Glu1330Ter)
NM_000350.3(ABCA4):c.3G>T (p.Met1Ile) rs886041554
NM_000350.3(ABCA4):c.4003_4004del (p.Pro1335fs) rs1571265241
NM_000350.3(ABCA4):c.4036_4037del (p.Thr1346fs) rs61751401
NM_000350.3(ABCA4):c.4057C>T (p.Gln1353Ter) rs2101036893
NM_000350.3(ABCA4):c.4070C>A (p.Ala1357Glu) rs552517556
NM_000350.3(ABCA4):c.4070C>T (p.Ala1357Val) rs552517556
NM_000350.3(ABCA4):c.4099_4102dup (p.Arg1368fs)
NM_000350.3(ABCA4):c.4102C>T (p.Arg1368Cys) rs1183074086
NM_000350.3(ABCA4):c.4103G>T (p.Arg1368Leu) rs761163530
NM_000350.3(ABCA4):c.4108del (p.His1370fs) rs1571265125
NM_000350.3(ABCA4):c.4128+1G>A rs2101036750
NM_000350.3(ABCA4):c.4163T>C (p.Leu1388Pro) rs61750131
NM_000350.3(ABCA4):c.4193del (p.Gly1398fs)
NM_000350.3(ABCA4):c.4205dup (p.Leu1403fs) rs2101035787
NM_000350.3(ABCA4):c.4216C>T (p.His1406Tyr) rs61750133
NM_000350.3(ABCA4):c.4217A>G (p.His1406Arg) rs1660186858
NM_000350.3(ABCA4):c.4223G>A (p.Trp1408Ter) rs61750134
NM_000350.3(ABCA4):c.4223G>T (p.Trp1408Leu) rs61750134
NM_000350.3(ABCA4):c.4225A>G (p.Ile1409Val) rs2101035728
NM_000350.3(ABCA4):c.4237C>T (p.Gln1413Ter) rs2101035684
NM_000350.3(ABCA4):c.4246TTC[1] (p.Phe1417del) rs1467000353
NM_000350.3(ABCA4):c.4253+5G>T rs61750138
NM_000350.3(ABCA4):c.4263_4266dup (p.Gly1423fs)
NM_000350.3(ABCA4):c.428del (p.Pro143fs) rs1662504407
NM_000350.3(ABCA4):c.4290del (p.Ala1431fs)
NM_000350.3(ABCA4):c.4302_4352+128del rs2101034641
NM_000350.3(ABCA4):c.4309A>T (p.Lys1437Ter) rs1283350532
NM_000350.3(ABCA4):c.4313C>G (p.Pro1438Arg) rs774582644
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.4340_4343dup (p.Trp1449fs)
NM_000350.3(ABCA4):c.4352+1G>C rs200967229
NM_000350.3(ABCA4):c.4353-1G>C
NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter) rs886044742
NM_000350.3(ABCA4):c.4359C>G (p.Tyr1453Ter) rs192656357
NM_000350.3(ABCA4):c.4363del (p.Cys1455fs) rs2101033821
NM_000350.3(ABCA4):c.436del (p.Ile146fs) rs2101155690
NM_000350.3(ABCA4):c.4377del (p.Trp1461fs)
NM_000350.3(ABCA4):c.4381T>C (p.Trp1461Arg)
NM_000350.3(ABCA4):c.4383G>A (p.Trp1461Ter) rs1347261858
NM_000350.3(ABCA4):c.4383G>C (p.Trp1461Cys) rs1347261858
NM_000350.3(ABCA4):c.4386_4411del (p.Lys1462fs)
NM_000350.3(ABCA4):c.4414C>T (p.Gln1472Ter)
NM_000350.3(ABCA4):c.442+2T>A rs1662504014
NM_000350.3(ABCA4):c.4423C>T (p.Gln1475Ter) rs2101033677
NM_000350.3(ABCA4):c.4429C>T (p.Gln1477Ter) rs794727531
NM_000350.3(ABCA4):c.4437G>A (p.Trp1479Ter) rs1660139846
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr) rs61750147
NM_000350.3(ABCA4):c.4468_4469dup (p.Ser1491fs) rs2101033562
NM_000350.3(ABCA4):c.4480G>T (p.Glu1494Ter)
NM_000350.3(ABCA4):c.4484_4485del (p.Lys1495fs)
NM_000350.3(ABCA4):c.448G>T (p.Gly150Ter)
NM_000350.3(ABCA4):c.44G>A (p.Trp15Ter) rs2101191402
NM_000350.3(ABCA4):c.4505G>T (p.Cys1502Phe) rs1660137001
NM_000350.3(ABCA4):c.4506C>A (p.Cys1502Ter) rs61750149
NM_000350.3(ABCA4):c.4515_4521dup (p.Gly1508fs) rs2101033438
NM_000350.3(ABCA4):c.4519G>T (p.Gly1507Trp) rs568792949
NM_000350.3(ABCA4):c.4532C>G (p.Pro1511Arg) rs886046564
NM_000350.3(ABCA4):c.4537del (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) rs281865377
NM_000350.3(ABCA4):c.4539+1100A>G
NM_000350.3(ABCA4):c.4539+1106C>T
NM_000350.3(ABCA4):c.4539+1729G>T rs1660080565
NM_000350.3(ABCA4):c.4539+1G>T rs61751388
NM_000350.3(ABCA4):c.4539+2064C>T rs1553189179
NM_000350.3(ABCA4):c.4540-2A>C
NM_000350.3(ABCA4):c.4540-2A>G rs61752435
NM_000350.3(ABCA4):c.4546C>T (p.Gln1516Ter)
NM_000350.3(ABCA4):c.4552A>C (p.Ser1518Arg)
NM_000350.3(ABCA4):c.4555del (p.Thr1519fs)
NM_000350.3(ABCA4):c.4561dup (p.Ile1521fs)
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter) rs1553188916
NM_000350.3(ABCA4):c.458T>C (p.Ile153Thr)
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter) rs62645957
NM_000350.3(ABCA4):c.4601del (p.Leu1534fs)
NM_000350.3(ABCA4):c.4612_4625del (p.Tyr1538fs) rs1659997368
NM_000350.3(ABCA4):c.4621del (p.Leu1541_Ile1542insTer) rs1557770132
NM_000350.3(ABCA4):c.4634+1G>A
NM_000350.3(ABCA4):c.4634+1G>C rs767312869
NM_000350.3(ABCA4):c.4634+1del rs1659997092
NM_000350.3(ABCA4):c.4637T>G (p.Leu1546Ter) rs1131691612
NM_000350.3(ABCA4):c.4637del (p.Ser1545_Leu1546insTer)
NM_000350.3(ABCA4):c.4639A>T (p.Lys1547Ter)
NM_000350.3(ABCA4):c.464A>T (p.Asp155Val)
NM_000350.3(ABCA4):c.4653G>A (p.Trp1551Ter)
NM_000350.3(ABCA4):c.4663_4664del (p.Gln1555fs)
NM_000350.3(ABCA4):c.4666del (p.Arg1556fs) rs2101025946
NM_000350.3(ABCA4):c.4667+1G>A rs751319688
NM_000350.3(ABCA4):c.4667G>A (p.Arg1556Lys) rs1385119665
NM_000350.3(ABCA4):c.4668-1G>A rs1439783011
NM_000350.3(ABCA4):c.4668-1G>C
NM_000350.3(ABCA4):c.4670A>G (p.Tyr1557Cys) rs1401716074
NM_000350.3(ABCA4):c.4671T>A (p.Tyr1557Ter) rs1659914762
NM_000350.3(ABCA4):c.4672G>A (p.Gly1558Arg) rs1659914711
NM_000350.3(ABCA4):c.470T>A (p.Leu157Ter) rs953605928
NM_000350.3(ABCA4):c.478G>T (p.Glu160Ter) rs1064793005
NM_000350.3(ABCA4):c.488_491del (p.Leu163fs) rs747950242
NM_000350.3(ABCA4):c.5019-1G>A
NM_000350.3(ABCA4):c.5019-1G>T
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) rs62646872
NM_000350.3(ABCA4):c.5055C>A (p.Cys1685Ter) rs749943475
NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe) rs201996979
NM_000350.3(ABCA4):c.5059del (p.Ile1687fs) rs1571256775
NM_000350.3(ABCA4):c.505A>T (p.Lys169Ter)
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro) rs61753020
NM_000350.3(ABCA4):c.5069T>G (p.Met1690Arg)
NM_000350.3(ABCA4):c.5076_5097del (p.Val1693fs) rs2101020760
NM_000350.3(ABCA4):c.5084C>A (p.Ala1695Asp) rs1659842921
NM_000350.3(ABCA4):c.5137_5138delinsAG (p.Gln1713Arg) rs1659840790
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.5169del (p.Trp1724fs)
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.5190G>A (p.Trp1730Ter) rs2101020591
NM_000350.3(ABCA4):c.5196+1056A>G rs886044749
NM_000350.3(ABCA4):c.5196+1137G>T rs778234759
NM_000350.3(ABCA4):c.5196+1216C>A rs1659795266
NM_000350.3(ABCA4):c.5196+3_5196+6del rs61753023
NM_000350.3(ABCA4):c.5197-2A>C
NM_000350.3(ABCA4):c.5201del (p.Asn1734fs)
NM_000350.3(ABCA4):c.5210del (p.Val1737fs) rs2101015583
NM_000350.3(ABCA4):c.5222_5232del (p.Leu1741fs) rs61750569
NM_000350.3(ABCA4):c.5243G>A (p.Gly1748Glu) rs1659719374
NM_000350.3(ABCA4):c.5248C>T (p.Gln1750Ter) rs61753026
NM_000350.3(ABCA4):c.5260T>G (p.Tyr1754Asp)
NM_000350.3(ABCA4):c.5284del (p.Ala1762fs)
NM_000350.3(ABCA4):c.5289del (p.Val1764fs) rs1553188071
NM_000350.3(ABCA4):c.5308T>G (p.Tyr1770Asp) rs1195430987
NM_000350.3(ABCA4):c.5309A>G (p.Tyr1770Cys) rs760780770
NM_000350.3(ABCA4):c.5310T>G (p.Tyr1770Ter)
NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg) rs374015407
NM_000350.3(ABCA4):c.5312+2T>C
NM_000350.3(ABCA4):c.5312+2T>G rs1307108997
NM_000350.3(ABCA4):c.5312+3A>T rs767451031
NM_000350.3(ABCA4):c.5315G>A (p.Trp1772Ter) rs776757706
NM_000350.3(ABCA4):c.5317_5318insA (p.Ala1773fs) rs1659674437
NM_000350.3(ABCA4):c.5318C>A (p.Ala1773Glu) rs760549861
NM_000350.3(ABCA4):c.5332A>G (p.Met1778Val)
NM_000350.3(ABCA4):c.5332A>T (p.Met1778Leu)
NM_000350.3(ABCA4):c.5351T>G (p.Leu1784Arg) rs746252741
NM_000350.3(ABCA4):c.5364del (p.Ser1789fs) rs2101013784
NM_000350.3(ABCA4):c.5366G>A (p.Ser1789Asn)
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.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.5417G>A (p.Ser1806Asn) rs1659671020
NM_000350.3(ABCA4):c.5425_5426del (p.Ile1809fs)
NM_000350.3(ABCA4):c.5438T>A (p.Leu1813Ter)
NM_000350.3(ABCA4):c.5444T>A (p.Leu1815Ter)
NM_000350.3(ABCA4):c.5453del (p.Asn1818fs) rs2101013633
NM_000350.3(ABCA4):c.5460+1G>A rs61753030
NM_000350.3(ABCA4):c.5461-1G>T rs2101008577
NM_000350.3(ABCA4):c.5486T>C (p.Leu1829Pro)
NM_000350.3(ABCA4):c.5509C>T (p.Pro1837Ser)
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.5527C>G (p.Arg1843Gly)
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.5531G>A (p.Gly1844Asp) rs1659540498
NM_000350.3(ABCA4):c.5554C>T (p.Gln1852Ter) rs531109296
NM_000350.3(ABCA4):c.5564_5565del (p.Thr1855fs)
NM_000350.3(ABCA4):c.5569_5570del (p.Val1857fs)
NM_000350.3(ABCA4):c.5572T>G (p.Tyr1858Asp)
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.5584G>C (p.Gly1862Arg) rs1659538637
NM_000350.3(ABCA4):c.5615G>A (p.Trp1872Ter) rs2101007643
NM_000350.3(ABCA4):c.5616G>A (p.Trp1872Ter)
NM_000350.3(ABCA4):c.5630_5644dup (p.Ala1881_Met1882insLysAsnLeuPheAla)
NM_000350.3(ABCA4):c.5646G>A (p.Met1882Ile) rs752160946
NM_000350.3(ABCA4):c.5646G>C (p.Met1882Ile)
NM_000350.3(ABCA4):c.5646G>T (p.Met1882Ile) rs752160946
NM_000350.3(ABCA4):c.5655del (p.Val1887fs) rs1659524475
NM_000350.3(ABCA4):c.5689C>T (p.Gln1897Ter)
NM_000350.3(ABCA4):c.568C>T (p.Gln190Ter)
NM_000350.3(ABCA4):c.5691G>T (p.Gln1897His) rs771092150
NM_000350.3(ABCA4):c.570+2T>C
NM_000350.3(ABCA4):c.5706del (p.Ser1903fs) rs2101007419
NM_000350.3(ABCA4):c.571-1G>A rs61748533
NM_000350.3(ABCA4):c.571-1G>T rs61748533
NM_000350.3(ABCA4):c.5710C>T (p.Gln1904Ter) rs2101007411
NM_000350.3(ABCA4):c.5714+1G>A rs1232476760
NM_000350.3(ABCA4):c.5714+1G>T rs1232476760
NM_000350.3(ABCA4):c.5753A>T (p.Asp1918Val) rs1659470705
NM_000350.3(ABCA4):c.5756_5757insCC (p.Asp1920fs)
NM_000350.3(ABCA4):c.5758del (p.Asp1920fs)
NM_000350.3(ABCA4):c.5762_5763dup (p.Ala1922fs)
NM_000350.3(ABCA4):c.5822del (p.His1941fs) rs1659465707
NM_000350.3(ABCA4):c.5824G>T (p.Glu1942Ter)
NM_000350.3(ABCA4):c.5828T>C (p.Leu1943Pro) rs886044755
NM_000350.3(ABCA4):c.5830del (p.Thr1944fs)
NM_000350.3(ABCA4):c.5835+1G>T
NM_000350.3(ABCA4):c.5836-2A>G rs1659453002
NM_000350.3(ABCA4):c.5836-2del rs61750637
NM_000350.3(ABCA4):c.5867_5870del (p.Asp1956fs) rs1553187228
NM_000350.3(ABCA4):c.5898+1G>A rs61750638
NM_000350.3(ABCA4):c.5898+2T>C rs2101004096
NM_000350.3(ABCA4):c.5899-1G>A rs1553187160
NM_000350.3(ABCA4):c.5899-2del rs1553187162
NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg) rs61753034
NM_000350.3(ABCA4):c.5914G>A (p.Gly1972Arg) rs61753035
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.5932A>G (p.Lys1978Glu) rs1064793014
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile) rs61753037
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.5970_5990del (p.Thr1992_Val1998del) rs1659426203
NM_000350.3(ABCA4):c.5976del (p.Ser1993fs)
NM_000350.3(ABCA4):c.5981G>A (p.Gly1994Glu)
NM_000350.3(ABCA4):c.6005+1G>A rs61748517
NM_000350.3(ABCA4):c.6005+1G>T rs61748517
NM_000350.3(ABCA4):c.6005+2T>G rs1453899480
NM_000350.3(ABCA4):c.6049T>C (p.Cys2017Arg) rs2101000542
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) rs886044758
NM_000350.3(ABCA4):c.6086G>T (p.Gly2029Val)
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>G (p.Leu2033Arg) rs1553186896
NM_000350.3(ABCA4):c.6114del (p.Leu2039fs)
NM_000350.3(ABCA4):c.6121G>A (p.Gly2041Ser) rs2101000357
NM_000350.3(ABCA4):c.6122del (p.Gly2041fs) rs2101000353
NM_000350.3(ABCA4):c.613T>C (p.Cys205Arg)
NM_000350.3(ABCA4):c.613T>G (p.Cys205Gly)
NM_000350.3(ABCA4):c.6146del (p.Lys2049fs) rs1659351261
NM_000350.3(ABCA4):c.6147+2T>A rs1659351072
NM_000350.3(ABCA4):c.6147+2T>C rs1659351072
NM_000350.3(ABCA4):c.614G>A (p.Cys205Tyr)
NM_000350.3(ABCA4):c.614G>T (p.Cys205Phe) rs1662214905
NM_000350.3(ABCA4):c.6155del (p.Asn2052fs) rs2100995699
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter) rs61750644
NM_000350.3(ABCA4):c.6173T>G (p.Leu2058Arg)
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.6184_6187del (p.Val2062fs) rs886042319
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.6209C>G (p.Thr2070Arg)
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6220G>A (p.Gly2074Ser) rs1659196542
NM_000350.3(ABCA4):c.6221G>A (p.Gly2074Asp) rs367839100
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val) rs367839100
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.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6250G>C (p.Ala2084Pro)
NM_000350.3(ABCA4):c.6283-1G>C rs1410550128
NM_000350.3(ABCA4):c.6285_6286inv (p.Glu2096Lys)
NM_000350.3(ABCA4):c.6287A>G (p.Glu2096Gly)
NM_000350.3(ABCA4):c.6289C>T (p.Pro2097Ser)
NM_000350.3(ABCA4):c.6290C>T (p.Pro2097Leu) rs747046963
NM_000350.3(ABCA4):c.629T>A (p.Leu210Gln) rs1246844424
NM_000350.3(ABCA4):c.629del (p.Leu210fs) rs2101135952
NM_000350.3(ABCA4):c.6304_6317dup (p.Arg2107fs)
NM_000350.3(ABCA4):c.6306C>A (p.Asp2102Glu) rs568627877
NM_000350.3(ABCA4):c.6310C>T (p.Gln2104Ter)
NM_000350.3(ABCA4):c.6310dup (p.Gln2104fs) rs2100994047
NM_000350.3(ABCA4):c.6317del (p.Arg2106fs) rs1659160781
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.6352del (p.Arg2118fs) rs61750650
NM_000350.3(ABCA4):c.6380C>T (p.Ser2127Phe) rs1303289867
NM_000350.3(ABCA4):c.6386+1G>A rs745654673
NM_000350.3(ABCA4):c.6389T>A (p.Met2130Lys) rs2100993760
NM_000350.3(ABCA4):c.6405_6406dup (p.Leu2136fs)
NM_000350.3(ABCA4):c.6410G>A (p.Cys2137Tyr)
NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp) rs61750653
NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro) rs761867791
NM_000350.3(ABCA4):c.6428T>G (p.Met2143Arg)
NM_000350.3(ABCA4):c.6463C>T (p.Gln2155Ter)
NM_000350.3(ABCA4):c.6471del (p.Lys2158fs) rs1373168392
NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu) rs1571241930
NM_000350.3(ABCA4):c.6479+1G>A
NM_000350.3(ABCA4):c.6479+1G>C
NM_000350.3(ABCA4):c.6479+4A>G rs2100993531
NM_000350.3(ABCA4):c.6480-1G>C rs2100988422
NM_000350.3(ABCA4):c.6545_6580del (p.Leu2182_Phe2193del) rs63749058
NM_000350.3(ABCA4):c.6559C>T (p.Gln2187Ter)
NM_000350.3(ABCA4):c.655A>T (p.Arg219Ter) rs757557272
NM_000350.3(ABCA4):c.6568C>T (p.Gln2190Ter) rs2100988221
NM_000350.3(ABCA4):c.6568del (p.Gln2190fs) rs61751381
NM_000350.3(ABCA4):c.6581del (p.Pro2194fs)
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.664del (p.Ala222fs) rs61748539
NM_000350.3(ABCA4):c.6651del (p.Ile2218fs) rs2100987980
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) rs61753046
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) rs63749055
NM_000350.3(ABCA4):c.6670_6671del (p.Ser2224fs) rs1571239957
NM_000350.3(ABCA4):c.6684_6699del (p.Leu2229fs)
NM_000350.3(ABCA4):c.6692_6705del (p.Ile2231fs)
NM_000350.3(ABCA4):c.6694GAG[1] (p.Glu2233del)
NM_000350.3(ABCA4):c.66G>T (p.Lys22Asn) rs2101191227
NM_000350.3(ABCA4):c.67-1G>C rs778908435
NM_000350.3(ABCA4):c.67-2A>G rs398123339
NM_000350.3(ABCA4):c.6705dup (p.Val2236fs)
NM_000350.3(ABCA4):c.6709dup (p.Thr2237fs) rs281865383
NM_000350.3(ABCA4):c.6722T>C (p.Leu2241Pro) rs1659051255
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.6735del (p.Phe2245fs)
NM_000350.3(ABCA4):c.673_704delinsTCTATC (p.Val225fs)
NM_000350.3(ABCA4):c.6746C>A (p.Ala2249Asp)
NM_000350.3(ABCA4):c.6788_6791del (p.Arg2263fs)
NM_000350.3(ABCA4):c.6816+1G>A rs773599043
NM_000350.3(ABCA4):c.6816+1G>C
NM_000350.3(ABCA4):c.6817-2A>C rs1658918693
NM_000350.3(ABCA4):c.6817-2A>G rs1658918693
NM_000350.3(ABCA4):c.688T>A (p.Cys230Ser) rs1057518767
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.723A>T (p.Glu241Asp)
NM_000350.3(ABCA4):c.730_731del (p.Leu244fs) rs62645949
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.746A>G (p.Asp249Gly) rs62646865
NM_000350.3(ABCA4):c.752del (p.Phe251fs) rs2101135446
NM_000350.3(ABCA4):c.769-1G>A
NM_000350.3(ABCA4):c.769-784C>T
NM_000350.3(ABCA4):c.796C>T (p.Gln266Ter) rs764368214
NM_000350.3(ABCA4):c.818G>A (p.Trp273Ter)
NM_000350.3(ABCA4):c.82del (p.Glu28fs) rs2101167069
NM_000350.3(ABCA4):c.834del (p.Asp279fs) rs779743222
NM_000350.3(ABCA4):c.850_857del (p.Ile284fs) rs886042320
NM_000350.3(ABCA4):c.853C>T (p.Gln285Ter) rs886041951
NM_000350.3(ABCA4):c.858+2T>A
NM_000350.3(ABCA4):c.859-506G>C rs1661692833
NM_000350.3(ABCA4):c.859-9T>C rs529598960
NM_000350.3(ABCA4):c.878T>G (p.Met293Arg) rs2101107081
NM_000350.3(ABCA4):c.880C>T (p.Gln294Ter) rs794727903
NM_000350.3(ABCA4):c.913C>T (p.Gln305Ter) rs1661669685
NM_000350.3(ABCA4):c.91T>C (p.Trp31Arg)
NM_000350.3(ABCA4):c.93G>A (p.Trp31Ter) rs1191816747
NM_000350.3(ABCA4):c.950del (p.Gly317fs)
NM_000350.3(ABCA4):c.95CTTTAT[1] (p.Ser34_Leu35del) rs745925619
NM_000350.3(ABCA4):c.967del (p.Leu323fs) rs1661666701
NM_000350.3(ABCA4):c.978C>A (p.Tyr326Ter)
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.985G>T (p.Gly329Ter) rs1199849243

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