NM_000350.3(ABCA4):c.635G>A (p.Arg212His)
|
rs6657239
|
0.04939
|
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)
|
rs61749417
|
0.00491
|
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)
|
rs61749435
|
0.00385
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile)
|
rs145525174
|
0.00246
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)
|
rs61754024
|
0.00178
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_000350.3(ABCA4):c.4128+11C>T
|
rs202102586
|
0.00148
|
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.1411G>A (p.Glu471Lys)
|
rs1800548
|
0.00090
|
NM_000350.3(ABCA4):c.4129-17C>T
|
rs200194007
|
0.00088
|
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.4353-4T>C
|
rs375886479
|
0.00039
|
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
|
rs140482171
|
0.00037
|
NM_000350.3(ABCA4):c.4352+15G>A
|
rs139611589
|
0.00036
|
NM_000350.3(ABCA4):c.5992G>A (p.Val1998Ile)
|
rs147870733
|
0.00036
|
NM_000350.3(ABCA4):c.1969A>G (p.Ile657Val)
|
rs199590367
|
0.00034
|
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg)
|
rs144995371
|
0.00034
|
NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys)
|
rs150895509
|
0.00034
|
NM_000350.3(ABCA4):c.2383-12G>A
|
rs368548294
|
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.667A>C (p.Lys223Gln)
|
rs147619585
|
0.00023
|
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=)
|
rs376624031
|
0.00022
|
NM_000350.3(ABCA4):c.4128+16G>A
|
rs61783968
|
0.00018
|
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)
|
rs121909207
|
0.00014
|
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.6340G>A (p.Val2114Met)
|
rs202127235
|
0.00009
|
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu)
|
rs190540405
|
0.00009
|
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.1531C>T (p.Arg511Cys)
|
rs752786160
|
0.00006
|
NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg)
|
rs140281495
|
0.00006
|
NM_000350.3(ABCA4):c.302+68C>T
|
rs761188244
|
0.00006
|
NM_000350.3(ABCA4):c.1251T>C (p.Thr417=)
|
rs374336459
|
0.00005
|
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)
|
rs61748559
|
0.00005
|
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)
|
rs568792949
|
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.764G>A (p.Arg255His)
|
rs148387660
|
0.00005
|
NM_000350.3(ABCA4):c.1208A>T (p.Asp403Val)
|
rs913030626
|
0.00004
|
NM_000350.3(ABCA4):c.156T>G (p.His52Gln)
|
rs557725292
|
0.00004
|
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met)
|
rs74516571
|
0.00004
|
NM_000350.3(ABCA4):c.1729G>A (p.Val577Met)
|
rs547063913
|
0.00004
|
NM_000350.3(ABCA4):c.2924T>C (p.Ile975Thr)
|
rs146140442
|
0.00004
|
NM_000350.3(ABCA4):c.3539C>T (p.Ser1180Leu)
|
rs267598773
|
0.00004
|
NM_000350.3(ABCA4):c.5560G>T (p.Val1854Leu)
|
rs374687000
|
0.00004
|
NM_000350.3(ABCA4):c.575C>T (p.Ala192Val)
|
rs185729337
|
0.00004
|
NM_000350.3(ABCA4):c.847A>G (p.Arg283Gly)
|
rs141802200
|
0.00004
|
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys)
|
rs62642573
|
0.00003
|
NM_000350.3(ABCA4):c.5791G>A (p.Gly1931Ser)
|
rs757462382
|
0.00003
|
NM_000350.3(ABCA4):c.5824G>C (p.Glu1942Gln)
|
rs760353830
|
0.00003
|
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)
|
rs61748521
|
0.00003
|
NM_000350.3(ABCA4):c.6806G>A (p.Arg2269Gln)
|
rs202223056
|
0.00003
|
NM_000350.3(ABCA4):c.1615C>G (p.Leu539Val)
|
rs748615703
|
0.00002
|
NM_000350.3(ABCA4):c.1745A>G (p.Asn582Ser)
|
rs368362755
|
0.00002
|
NM_000350.3(ABCA4):c.2126C>T (p.Ser709Leu)
|
rs374152623
|
0.00002
|
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp)
|
rs61749446
|
0.00002
|
NM_000350.3(ABCA4):c.3291A>G (p.Arg1097=)
|
rs61750118
|
0.00002
|
NM_000350.3(ABCA4):c.3449G>A (p.Cys1150Tyr)
|
rs375783686
|
0.00002
|
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr)
|
rs142673376
|
0.00002
|
NM_000350.3(ABCA4):c.6496A>G (p.Ile2166Val)
|
rs200658526
|
0.00002
|
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr)
|
rs61748537
|
0.00002
|
NM_000350.3(ABCA4):c.6579C>T (p.Phe2193=)
|
rs763108716
|
0.00002
|
NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys)
|
rs62645952
|
0.00002
|
NM_000350.3(ABCA4):c.945G>A (p.Leu315=)
|
rs764002833
|
0.00002
|
NM_000350.3(ABCA4):c.1037A>C (p.Lys346Thr)
|
rs61752389
|
0.00001
|
NM_000350.3(ABCA4):c.1586A>G (p.Asn529Ser)
|
rs764995626
|
0.00001
|
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu)
|
rs1057520211
|
0.00001
|
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)
|
rs61749437
|
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.2920T>C (p.Ser974Pro)
|
rs281865400
|
0.00001
|
NM_000350.3(ABCA4):c.3059T>A (p.Val1020Glu)
|
rs112300381
|
0.00001
|
NM_000350.3(ABCA4):c.3164G>A (p.Arg1055Gln)
|
rs187071406
|
0.00001
|
NM_000350.3(ABCA4):c.4416G>A (p.Gln1472=)
|
rs780663071
|
0.00001
|
NM_000350.3(ABCA4):c.4506C>T (p.Cys1502=)
|
rs61750149
|
0.00001
|
NM_000350.3(ABCA4):c.5026A>T (p.Thr1676Ser)
|
rs753489583
|
0.00001
|
NM_000350.3(ABCA4):c.5361C>T (p.Val1787=)
|
rs757545714
|
0.00001
|
NM_000350.3(ABCA4):c.5501T>C (p.Ile1834Thr)
|
rs748355733
|
0.00001
|
NM_000350.3(ABCA4):c.5593C>T (p.His1865Tyr)
|
rs201707267
|
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.6494A>G (p.Tyr2165Cys)
|
rs940867738
|
0.00001
|
NM_000350.3(ABCA4):c.733T>C (p.Tyr245His)
|
rs201136017
|
0.00001
|
NM_000350.3(ABCA4):c.769-3C>T
|
rs368010652
|
0.00001
|
NM_000350.3(ABCA4):c.790C>T (p.Arg264Cys)
|
rs767947718
|
0.00001
|
NM_000350.3(ABCA4):c.1034A>G (p.Tyr345Cys)
|
rs1417184535
|
|
NM_000350.3(ABCA4):c.1240-8G>A
|
rs185225547
|
|
NM_000350.3(ABCA4):c.1351A>C (p.Ile451Leu)
|
|
|
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln)
|
rs145614671
|
|
NM_000350.3(ABCA4):c.153T>C (p.His51=)
|
|
|
NM_000350.3(ABCA4):c.166T>A (p.Phe56Ile)
|
rs1662606557
|
|
NM_000350.3(ABCA4):c.1759A>G (p.Arg587Gly)
|
rs1661175150
|
|
NM_000350.3(ABCA4):c.1761G>T (p.Arg587Ser)
|
rs1661166945
|
|
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His)
|
rs1064793006
|
|
NM_000350.3(ABCA4):c.1811T>G (p.Ile604Ser)
|
rs61749411
|
|
NM_000350.3(ABCA4):c.1862G>C (p.Arg621Thr)
|
|
|
NM_000350.3(ABCA4):c.1937+5G>A
|
rs536864160
|
|
NM_000350.3(ABCA4):c.2036A>T (p.Glu679Val)
|
rs1553192420
|
|
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.2243G>A (p.Cys748Tyr)
|
rs1660994342
|
|
NM_000350.3(ABCA4):c.2252T>C (p.Leu751Pro)
|
rs1660994125
|
|
NM_000350.3(ABCA4):c.2331C>A (p.Ile777=)
|
|
|
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.2464A>G (p.Ser822Gly)
|
|
|
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.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.284C>T (p.Ser95Leu)
|
|
|
NM_000350.3(ABCA4):c.2857_2877del (p.Phe953_Thr959del)
|
|
|
NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys)
|
rs398123338
|
|
NM_000350.3(ABCA4):c.2889C>T (p.Gly963=)
|
rs1660700628
|
|
NM_000350.3(ABCA4):c.2911A>C (p.Thr971Pro)
|
rs745825311
|
|
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile)
|
rs61752411
|
|
NM_000350.3(ABCA4):c.2954G>T (p.Gly985Val)
|
rs1660624360
|
|
NM_000350.3(ABCA4):c.3017G>A (p.Gly1006Asp)
|
rs1660620340
|
|
NM_000350.3(ABCA4):c.302+6T>G
|
rs1662599652
|
|
NM_000350.3(ABCA4):c.3022T>C (p.Cys1008Arg)
|
rs1660620146
|
|
NM_000350.3(ABCA4):c.3051-19C>A
|
rs375804885
|
|
NM_000350.3(ABCA4):c.3051-19C>G
|
rs375804885
|
|
NM_000350.3(ABCA4):c.3117G>C (p.Gln1039His)
|
|
|
NM_000350.3(ABCA4):c.3119T>C (p.Leu1040Pro)
|
|
|
NM_000350.3(ABCA4):c.3291A>T (p.Arg1097Ser)
|
rs61750118
|
|
NM_000350.3(ABCA4):c.3339C>T (p.Ile1113=)
|
|
|
NM_000350.3(ABCA4):c.3378T>C (p.Leu1126=)
|
|
|
NM_000350.3(ABCA4):c.337C>G (p.Leu113Val)
|
|
|
NM_000350.3(ABCA4):c.3383A>G (p.Asp1128Gly)
|
rs1660480861
|
|
NM_000350.3(ABCA4):c.3398T>C (p.Ile1133Thr)
|
rs1432207212
|
|
NM_000350.3(ABCA4):c.341T>C (p.Met114Thr)
|
|
|
NM_000350.3(ABCA4):c.3422C>T (p.Ser1141Leu)
|
|
|
NM_000350.3(ABCA4):c.3523-6T>C
|
rs1660449701
|
|
NM_000350.3(ABCA4):c.3528C>T (p.Thr1176=)
|
|
|
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg)
|
rs1064793011
|
|
NM_000350.3(ABCA4):c.3977C>G (p.Ala1326Gly)
|
rs761989194
|
|
NM_000350.3(ABCA4):c.4034A>G (p.Asn1345Ser)
|
|
|
NM_000350.3(ABCA4):c.4070C>G (p.Ala1357Gly)
|
|
|
NM_000350.3(ABCA4):c.4079T>C (p.Val1360Ala)
|
|
|
NM_000350.3(ABCA4):c.4128+8T>C
|
rs1660211252
|
|
NM_000350.3(ABCA4):c.4129A>G (p.Ile1377Val)
|
rs1327707460
|
|
NM_000350.3(ABCA4):c.4265C>G (p.Pro1422Arg)
|
|
|
NM_000350.3(ABCA4):c.4352+5G>T
|
rs1660166597
|
|
NM_000350.3(ABCA4):c.4426A>G (p.Lys1476Glu)
|
|
|
NM_000350.3(ABCA4):c.443-5_443-2del
|
|
|
NM_000350.3(ABCA4):c.4517C>T (p.Ala1506Val)
|
|
|
NM_000350.3(ABCA4):c.4539+2000G>A
|
rs1660073175
|
|
NM_000350.3(ABCA4):c.4557G>A (p.Thr1519=)
|
|
|
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)
|
rs138475920
|
|
NM_000350.3(ABCA4):c.4638A>T (p.Leu1546Phe)
|
|
|
NM_000350.3(ABCA4):c.4668-15C>T
|
rs61754054
|
|
NM_000350.3(ABCA4):c.4672G>A (p.Gly1558Arg)
|
rs1659914711
|
|
NM_000350.3(ABCA4):c.488T>G (p.Leu163Arg)
|
rs1662328590
|
|
NM_000350.3(ABCA4):c.5026A>C (p.Thr1676Pro)
|
rs753489583
|
|
NM_000350.3(ABCA4):c.5080C>A (p.Pro1694Thr)
|
rs1659843027
|
|
NM_000350.3(ABCA4):c.5172G>T (p.Trp1724Cys)
|
rs1557767754
|
|
NM_000350.3(ABCA4):c.5180A>G (p.Asn1727Ser)
|
|
|
NM_000350.3(ABCA4):c.5196+1136C>A
|
rs114147805
|
|
NM_000350.3(ABCA4):c.5208C>T (p.Ser1736=)
|
|
|
NM_000350.3(ABCA4):c.5308T>G (p.Tyr1770Asp)
|
rs1195430987
|
|
NM_000350.3(ABCA4):c.5400_5401del (p.Phe1801fs)
|
|
|
NM_000350.3(ABCA4):c.5418C>A (p.Ser1806Arg)
|
rs1659670972
|
|
NM_000350.3(ABCA4):c.5423C>G (p.Ala1808Gly)
|
|
|
NM_000350.3(ABCA4):c.5519G>C (p.Cys1840Ser)
|
rs946348819
|
|
NM_000350.3(ABCA4):c.5584G>A (p.Gly1862Ser)
|
rs1659538637
|
|
NM_000350.3(ABCA4):c.5611C>T (p.His1871Tyr)
|
|
|
NM_000350.3(ABCA4):c.5653G>A (p.Glu1885Lys)
|
rs62642563
|
|
NM_000350.3(ABCA4):c.5714+19C>A
|
rs1659521212
|
|
NM_000350.3(ABCA4):c.5719_5720delinsTT (p.Ala1907Phe)
|
rs1659472146
|
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NM_000350.3(ABCA4):c.5754T>C (p.Asp1918=)
|
|
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NM_000350.3(ABCA4):c.5822A>C (p.His1941Pro)
|
rs1161119501
|
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NM_000350.3(ABCA4):c.583G>A (p.Val195Ile)
|
|
|
NM_000350.3(ABCA4):c.583G>C (p.Val195Leu)
|
rs1206857720
|
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NM_000350.3(ABCA4):c.5951T>G (p.Met1984Arg)
|
rs1259778135
|
|
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.6107A>G (p.Tyr2036Cys)
|
rs878853398
|
|
NM_000350.3(ABCA4):c.6110C>T (p.Ala2037Val)
|
rs1659353253
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
NM_000350.3(ABCA4):c.6208_6209delinsCA (p.Thr2070Gln)
|
rs1659197672
|
|
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)
|
rs367839100
|
|
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.629T>A (p.Leu210Gln)
|
rs1246844424
|
|
NM_000350.3(ABCA4):c.6305A>C (p.Asp2102Ala)
|
|
|
NM_000350.3(ABCA4):c.6380C>T (p.Ser2127Phe)
|
rs1303289867
|
|
NM_000350.3(ABCA4):c.6453G>T (p.Met2151Ile)
|
rs1057518954
|
|
NM_000350.3(ABCA4):c.6455G>T (p.Gly2152Val)
|
rs1659152504
|
|
NM_000350.3(ABCA4):c.6498C>T (p.Ile2166=)
|
rs61751379
|
|
NM_000350.3(ABCA4):c.6620A>G (p.Gln2207Arg)
|
|
|
NM_000350.3(ABCA4):c.6666C>T (p.Leu2222=)
|
|
|
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.740A>C (p.Asn247Thr)
|
|
|
NM_000350.3(ABCA4):c.791G>A (p.Arg264His)
|
rs567985213
|
|
NM_000350.3(ABCA4):c.859-14_859-13del
|
rs1661673887
|
|
NM_000350.3(ABCA4):c.911_937del (p.Met304_Phe312del)
|
rs1440228037
|
|
NM_000350.3(ABCA4):c.947T>C (p.Met316Thr)
|
|
|