NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)
|
rs1801581
|
0.02951
|
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)
|
rs61750126
|
0.02895
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
NM_000350.3(ABCA4):c.4253+43G>A
|
rs61754045
|
0.00486
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)
|
rs62646862
|
0.00276
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile)
|
rs145525174
|
0.00246
|
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)
|
rs61749455
|
0.00194
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)
|
rs61754024
|
0.00178
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His)
|
rs61752395
|
0.00176
|
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)
|
rs61754030
|
0.00174
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)
|
rs58331765
|
0.00136
|
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)
|
rs61749440
|
0.00133
|
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys)
|
rs1800548
|
0.00090
|
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala)
|
rs61749454
|
0.00089
|
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)
|
rs61750563
|
0.00088
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)
|
rs61748545
|
0.00039
|
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
|
rs140482171
|
0.00037
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)
|
rs61750648
|
0.00034
|
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)
|
rs200692438
|
0.00033
|
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)
|
rs61748532
|
0.00033
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)
|
rs148460146
|
0.00024
|
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
|
rs61750130
|
0.00023
|
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)
|
rs1801269
|
0.00022
|
NM_000350.3(ABCA4):c.5984A>T (p.Asp1995Val)
|
rs141489669
|
0.00022
|
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly)
|
rs145718830
|
0.00020
|
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)
|
rs61750120
|
0.00019
|
NM_000350.3(ABCA4):c.5606C>T (p.Pro1869Leu)
|
rs376925793
|
0.00019
|
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
0.00018
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000350.3(ABCA4):c.6416G>A (p.Arg2139Gln)
|
rs761867791
|
0.00017
|
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)
|
rs61750152
|
0.00016
|
NM_000350.3(ABCA4):c.2673A>T (p.Glu891Asp)
|
rs766079334
|
0.00014
|
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)
|
rs121909207
|
0.00014
|
NM_000350.3(ABCA4):c.5196+1137G>A
|
rs778234759
|
0.00013
|
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys)
|
rs138157885
|
0.00011
|
NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala)
|
rs779585931
|
0.00010
|
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser)
|
rs149071415
|
0.00009
|
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)
|
rs61750145
|
0.00009
|
NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu)
|
rs375184282
|
0.00008
|
NM_000350.3(ABCA4):c.5460+3G>A
|
rs371777196
|
0.00008
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
0.00008
|
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg)
|
rs142253670
|
0.00007
|
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)
|
rs752786160
|
0.00006
|
NM_000350.3(ABCA4):c.1805G>A (p.Arg602Gln)
|
rs61749410
|
0.00006
|
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu)
|
rs61750202
|
0.00006
|
NM_000350.3(ABCA4):c.302+1G>A
|
rs61751413
|
0.00006
|
NM_000350.3(ABCA4):c.3184C>A (p.Leu1062Ile)
|
rs966434923
|
0.00006
|
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)
|
rs756840095
|
0.00006
|
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)
|
rs61751402
|
0.00006
|
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)
|
rs62642574
|
0.00006
|
NM_000350.3(ABCA4):c.4610C>T (p.Thr1537Met)
|
rs62642575
|
0.00006
|
NM_000350.3(ABCA4):c.71G>A (p.Arg24His)
|
rs62645958
|
0.00006
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)
|
rs61748559
|
0.00005
|
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn)
|
rs145265791
|
0.00005
|
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)
|
rs568792949
|
0.00005
|
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp)
|
rs121909205
|
0.00005
|
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)
|
rs61751384
|
0.00005
|
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)
|
rs150774447
|
0.00004
|
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)
|
rs61749412
|
0.00004
|
NM_000350.3(ABCA4):c.1958G>A (p.Arg653His)
|
rs141823837
|
0.00004
|
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp)
|
rs61751395
|
0.00004
|
NM_000350.3(ABCA4):c.4169T>C (p.Leu1390Pro)
|
rs61752430
|
0.00004
|
NM_000350.3(ABCA4):c.5642C>T (p.Ala1881Val)
|
rs369973540
|
0.00004
|
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)
|
rs61748556
|
0.00003
|
NM_000350.3(ABCA4):c.2432G>A (p.Arg811His)
|
rs368016280
|
0.00003
|
NM_000350.3(ABCA4):c.3305A>G (p.Asp1102Gly)
|
rs143689372
|
0.00003
|
NM_000350.3(ABCA4):c.3481C>T (p.Arg1161Cys)
|
rs553776104
|
0.00003
|
NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys)
|
rs138359497
|
0.00003
|
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys)
|
rs62642573
|
0.00003
|
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)
|
rs61750142
|
0.00003
|
NM_000350.3(ABCA4):c.4539+2001G>A
|
rs1457937638
|
0.00003
|
NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn)
|
rs61750564
|
0.00003
|
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)
|
rs61751406
|
0.00003
|
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp)
|
rs61753029
|
0.00003
|
NM_000350.3(ABCA4):c.5761G>A (p.Val1921Met)
|
rs61753032
|
0.00003
|
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro)
|
rs61753033
|
0.00003
|
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)
|
rs61748521
|
0.00003
|
NM_000350.3(ABCA4):c.1007C>G (p.Ser336Cys)
|
rs61748547
|
0.00002
|
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)
|
rs55732384
|
0.00002
|
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)
|
rs61749409
|
0.00002
|
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp)
|
rs61749446
|
0.00002
|
NM_000350.3(ABCA4):c.2932G>A (p.Gly978Ser)
|
rs61749452
|
0.00002
|
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)
|
rs201855602
|
0.00002
|
NM_000350.3(ABCA4):c.3298A>G (p.Ile1100Val)
|
rs572604704
|
0.00002
|
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)
|
rs61751399
|
0.00002
|
NM_000350.3(ABCA4):c.3385C>T (p.Arg1129Cys)
|
rs779426136
|
0.00002
|
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg)
|
rs281865402
|
0.00002
|
NM_000350.3(ABCA4):c.5069T>C (p.Met1690Thr)
|
rs1333985048
|
0.00002
|
NM_000350.3(ABCA4):c.587C>T (p.Pro196Leu)
|
rs769176363
|
0.00002
|
NM_000350.3(ABCA4):c.6113G>A (p.Arg2038Gln)
|
rs767729255
|
0.00002
|
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr)
|
rs61748537
|
0.00002
|
NM_000350.3(ABCA4):c.885del (p.Leu296fs)
|
rs764759172
|
0.00002
|
NM_000350.3(ABCA4):c.1037A>C (p.Lys346Thr)
|
rs61752389
|
0.00001
|
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)
|
rs61748552
|
0.00001
|
NM_000350.3(ABCA4):c.1528C>A (p.Leu510Ile)
|
rs758584771
|
0.00001
|
NM_000350.3(ABCA4):c.1529T>C (p.Leu510Pro)
|
rs886039299
|
0.00001
|
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)
|
rs61748558
|
0.00001
|
NM_000350.3(ABCA4):c.1694C>A (p.Pro565His)
|
rs765891059
|
0.00001
|
NM_000350.3(ABCA4):c.1726G>C (p.Asp576His)
|
rs374224955
|
0.00001
|
NM_000350.3(ABCA4):c.1761-2A>G
|
rs754765164
|
0.00001
|
NM_000350.3(ABCA4):c.1817G>A (p.Gly606Asp)
|
rs147932486
|
0.00001
|
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile)
|
rs61752398
|
0.00001
|
NM_000350.3(ABCA4):c.184C>T (p.Pro62Ser)
|
rs1355238974
|
0.00001
|
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu)
|
rs1057520211
|
0.00001
|
NM_000350.3(ABCA4):c.1903C>T (p.Gln635Ter)
|
rs61749414
|
0.00001
|
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)
|
rs61749420
|
0.00001
|
NM_000350.3(ABCA4):c.1A>G (p.Met1Val)
|
rs201738997
|
0.00001
|
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)
|
rs575453437
|
0.00001
|
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)
|
rs62654397
|
0.00001
|
NM_000350.3(ABCA4):c.2042G>A (p.Arg681Gln)
|
rs761380652
|
0.00001
|
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)
|
rs61751412
|
0.00001
|
NM_000350.3(ABCA4):c.2160+1G>T
|
rs61749427
|
0.00001
|
NM_000350.3(ABCA4):c.2161-6T>C
|
rs998974599
|
0.00001
|
NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly)
|
rs61748526
|
0.00001
|
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr)
|
rs61749428
|
0.00001
|
NM_000350.3(ABCA4):c.2396C>T (p.Pro799Leu)
|
rs542919944
|
0.00001
|
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr)
|
rs374410829
|
0.00001
|
NM_000350.3(ABCA4):c.247_250dup (p.Ser84fs)
|
rs1005271380
|
0.00001
|
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr)
|
rs61749437
|
0.00001
|
NM_000350.3(ABCA4):c.2608C>T (p.Pro870Ser)
|
rs867875828
|
0.00001
|
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu)
|
rs746566873
|
0.00001
|
NM_000350.3(ABCA4):c.2654-8T>G
|
rs765263670
|
0.00001
|
NM_000350.3(ABCA4):c.2870A>G (p.Gln957Arg)
|
rs61749448
|
0.00001
|
NM_000350.3(ABCA4):c.2919-10T>C
|
rs886044733
|
0.00001
|
NM_000350.3(ABCA4):c.2942C>T (p.Pro981Leu)
|
rs147826775
|
0.00001
|
NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro)
|
rs61748530
|
0.00001
|
NM_000350.3(ABCA4):c.3005G>A (p.Arg1002Gln)
|
rs752000268
|
0.00001
|
NM_000350.3(ABCA4):c.3041T>G (p.Leu1014Arg)
|
rs61749456
|
0.00001
|
NM_000350.3(ABCA4):c.3064G>A (p.Glu1022Lys)
|
rs61749459
|
0.00001
|
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)
|
rs61750061
|
0.00001
|
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp)
|
rs886039300
|
0.00001
|
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg)
|
rs775661924
|
0.00001
|
NM_000350.3(ABCA4):c.3218C>T (p.Ala1073Val)
|
rs754788289
|
0.00001
|
NM_000350.3(ABCA4):c.3293G>A (p.Arg1098His)
|
rs891533398
|
0.00001
|
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)
|
rs62645946
|
0.00001
|
NM_000350.3(ABCA4):c.3329-1G>A
|
rs544428779
|
0.00001
|
NM_000350.3(ABCA4):c.3352C>T (p.His1118Tyr)
|
rs369440533
|
0.00001
|
NM_000350.3(ABCA4):c.3384C>G (p.Asp1128Glu)
|
rs369922919
|
0.00001
|
NM_000350.3(ABCA4):c.3413T>C (p.Leu1138Pro)
|
rs1287053724
|
0.00001
|
NM_000350.3(ABCA4):c.3482G>A (p.Arg1161His)
|
rs768278935
|
0.00001
|
NM_000350.3(ABCA4):c.3523-1G>A
|
rs766239144
|
0.00001
|
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter)
|
rs61752428
|
0.00001
|
NM_000350.3(ABCA4):c.4103G>A (p.Arg1368His)
|
rs761163530
|
0.00001
|
NM_000350.3(ABCA4):c.4124C>T (p.Ala1375Val)
|
rs1267585230
|
0.00001
|
NM_000350.3(ABCA4):c.4253+4C>T
|
rs61754044
|
0.00001
|
NM_000350.3(ABCA4):c.4253+5G>A
|
rs61750138
|
0.00001
|
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)
|
rs62646860
|
0.00001
|
NM_000350.3(ABCA4):c.4312C>G (p.Pro1438Ala)
|
rs1046550021
|
0.00001
|
NM_000350.3(ABCA4):c.4326C>A (p.Asn1442Lys)
|
rs762150575
|
0.00001
|
NM_000350.3(ABCA4):c.4347G>T (p.Trp1449Cys)
|
rs886044741
|
0.00001
|
NM_000350.3(ABCA4):c.4352+1G>A
|
rs200967229
|
0.00001
|
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg)
|
rs758835368
|
0.00001
|
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)
|
rs61750146
|
0.00001
|
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe)
|
rs61750147
|
0.00001
|
NM_000350.3(ABCA4):c.4532C>A (p.Pro1511His)
|
rs886046564
|
0.00001
|
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)
|
rs62646861
|
0.00001
|
NM_000350.3(ABCA4):c.4613A>T (p.Tyr1538Phe)
|
rs1427105205
|
0.00001
|
NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr)
|
rs1385119665
|
0.00001
|
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)
|
rs771038310
|
0.00001
|
NM_000350.3(ABCA4):c.5128A>C (p.Lys1710Gln)
|
rs778747291
|
0.00001
|
NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys)
|
rs374343397
|
0.00001
|
NM_000350.3(ABCA4):c.5138A>G (p.Gln1713Arg)
|
rs755826006
|
0.00001
|
NM_000350.3(ABCA4):c.5206T>C (p.Ser1736Pro)
|
rs61750568
|
0.00001
|
NM_000350.3(ABCA4):c.5316G>A (p.Trp1772Ter)
|
rs61750571
|
0.00001
|
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)
|
rs760549861
|
0.00001
|
NM_000350.3(ABCA4):c.5327C>T (p.Pro1776Leu)
|
rs1553187939
|
0.00001
|
NM_000350.3(ABCA4):c.5337C>G (p.Tyr1779Ter)
|
rs61750573
|
0.00001
|
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val)
|
rs1188515677
|
0.00001
|
NM_000350.3(ABCA4):c.5460+1G>T
|
rs61753030
|
0.00001
|
NM_000350.3(ABCA4):c.5463G>A (p.Thr1821=)
|
rs367857935
|
0.00001
|
NM_000350.3(ABCA4):c.5537T>C (p.Ile1846Thr)
|
rs61750575
|
0.00001
|
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro)
|
rs377311148
|
0.00001
|
NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn)
|
rs371489809
|
0.00001
|
NM_000350.3(ABCA4):c.5578C>T (p.Arg1860Trp)
|
rs200849015
|
0.00001
|
NM_000350.3(ABCA4):c.564del (p.Glu189fs)
|
rs886044148
|
0.00001
|
NM_000350.3(ABCA4):c.5657G>A (p.Gly1886Glu)
|
rs62642579
|
0.00001
|
NM_000350.3(ABCA4):c.5773A>G (p.Arg1925Gly)
|
rs757449019
|
0.00001
|
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile)
|
rs1208195953
|
0.00001
|
NM_000350.3(ABCA4):c.5836-3C>A
|
rs1064793013
|
0.00001
|
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser)
|
rs61750639
|
0.00001
|
NM_000350.3(ABCA4):c.599T>C (p.Leu200Pro)
|
rs1662215591
|
0.00001
|
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)
|
rs61751383
|
0.00001
|
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)
|
rs61753038
|
0.00001
|
NM_000350.3(ABCA4):c.6122G>A (p.Gly2041Asp)
|
rs1462350577
|
0.00001
|
NM_000350.3(ABCA4):c.6146A>C (p.Lys2049Thr)
|
rs760481450
|
0.00001
|
NM_000350.3(ABCA4):c.6230G>A (p.Arg2077Gln)
|
rs886044759
|
0.00001
|
NM_000350.3(ABCA4):c.6250G>A (p.Ala2084Thr)
|
rs1250914690
|
0.00001
|
NM_000350.3(ABCA4):c.6282+1G>C
|
rs770453727
|
0.00001
|
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His)
|
rs1057520213
|
0.00001
|
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)
|
rs61748520
|
0.00001
|
NM_000350.3(ABCA4):c.6386+2C>G
|
rs61753043
|
0.00001
|
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)
|
rs61750652
|
0.00001
|
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)
|
rs61750654
|
0.00001
|
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)
|
rs61748538
|
0.00001
|
NM_000350.3(ABCA4):c.6787C>T (p.Arg2263Ter)
|
rs998363634
|
0.00001
|
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)
|
rs781716640
|
0.00001
|
GRCh37/hg19 1p22.1(chr1:94528133-94528873)x1
|
|
|
NC_000001.10:g.(?_94508297)_(94511126_?)dup
|
|
|
NC_000001.10:g.(?_94548977)_(94551693_?)del
|
|
|
NC_000001.11:g.(?_93996109)_(93998110_?)del
|
|
|
NC_000001.11:g.(?_94023386)_(94023418_?)del
|
|
|
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
|
|
|
NM_000350.2(ABCA4):c.[302+68C>T;4539+2028C>T]
|
|
|
NM_000350.2(ABCA4):c.[5381C>A;6148G>C]
|
|
|
NM_000350.2:c.(2918+765_2918+775)_(3328+618_3328+662)del
|
|
|
NM_000350.3(ABCA4):c.1016G>A (p.Trp339Ter)
|
rs1661663692
|
|
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His)
|
rs61748548
|
|
NM_000350.3(ABCA4):c.1019A>C (p.Tyr340Ser)
|
rs1191143782
|
|
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs)
|
rs63749083
|
|
NM_000350.3(ABCA4):c.108del (p.Leu37fs)
|
rs62642569
|
|
NM_000350.3(ABCA4):c.1192dup (p.Ile398fs)
|
rs1661625047
|
|
NM_000350.3(ABCA4):c.1201A>T (p.Thr401Ser)
|
rs559674920
|
|
NM_000350.3(ABCA4):c.1240-8G>A
|
rs185225547
|
|
NM_000350.3(ABCA4):c.1248_1554+248del
|
|
|
NM_000350.3(ABCA4):c.1339C>T (p.Gln447Ter)
|
rs886039882
|
|
NM_000350.3(ABCA4):c.1357-2A>G
|
rs886044726
|
|
NM_000350.3(ABCA4):c.1497G>A (p.Trp499Ter)
|
rs1553193813
|
|
NM_000350.3(ABCA4):c.1508T>C (p.Phe503Ser)
|
|
|
NM_000350.3(ABCA4):c.1519G>T (p.Asp507Tyr)
|
|
|
NM_000350.3(ABCA4):c.1529T>A (p.Leu510His)
|
|
|
NM_000350.3(ABCA4):c.1529T>G (p.Leu510Arg)
|
rs886039299
|
|
NM_000350.3(ABCA4):c.1554+1G>A
|
rs61752393
|
|
NM_000350.3(ABCA4):c.1555-1G>T
|
rs61752394
|
|
NM_000350.3(ABCA4):c.1555-2A>C
|
rs2101079462
|
|
NM_000350.3(ABCA4):c.1570A>G (p.Lys524Glu)
|
rs1570394071
|
|
NM_000350.3(ABCA4):c.160+1G>A
|
rs61748523
|
|
NM_000350.3(ABCA4):c.160+2T>A
|
rs886044721
|
|
NM_000350.3(ABCA4):c.160+5G>C
|
rs1064793004
|
|
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly)
|
rs886044720
|
|
NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs)
|
rs1553192715
|
|
NM_000350.3(ABCA4):c.1630_1633dup (p.Asn545fs)
|
rs793888523
|
|
NM_000350.3(ABCA4):c.1649G>A (p.Gly550Glu)
|
|
|
NM_000350.3(ABCA4):c.1657T>G (p.Phe553Val)
|
|
|
NM_000350.3(ABCA4):c.1676G>A (p.Trp559Ter)
|
rs1570393848
|
|
NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro)
|
rs61748559
|
|
NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile)
|
rs886044728
|
|
NM_000350.3(ABCA4):c.1742C>A (p.Thr581Asn)
|
rs1661175744
|
|
NM_000350.3(ABCA4):c.1757A>G (p.Asp586Gly)
|
rs1553192682
|
|
NM_000350.3(ABCA4):c.1758C>A (p.Asp586Glu)
|
rs1570393727
|
|
NM_000350.3(ABCA4):c.1758C>G (p.Asp586Glu)
|
rs1570393727
|
|
NM_000350.3(ABCA4):c.1783G>A (p.Ala595Thr)
|
rs2101078458
|
|
NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser)
|
rs61751393
|
|
NM_000350.3(ABCA4):c.178G>A (p.Ala60Thr)
|
rs61751411
|
|
NM_000350.3(ABCA4):c.1795_1833del (p.Glu599_Leu611del)
|
rs2101078317
|
|
NM_000350.3(ABCA4):c.1798G>A (p.Asp600Asn)
|
|
|
NM_000350.3(ABCA4):c.179C>A (p.Ala60Glu)
|
|
|
NM_000350.3(ABCA4):c.1805G>C (p.Arg602Pro)
|
|
|
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His)
|
rs1064793006
|
|
NM_000350.3(ABCA4):c.1820G>T (p.Gly607Val)
|
|
|
NM_000350.3(ABCA4):c.1822T>C (p.Phe608Leu)
|
rs61752398
|
|
NM_000350.3(ABCA4):c.1844T>C (p.Val615Ala)
|
rs2101078285
|
|
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)
|
rs1557787473
|
|
NM_000350.3(ABCA4):c.184C>A (p.Pro62Thr)
|
rs1355238974
|
|
NM_000350.3(ABCA4):c.1850A>C (p.Gln617Pro)
|
|
|
NM_000350.3(ABCA4):c.1851_1860del (p.Ile619fs)
|
rs1661162346
|
|
NM_000350.3(ABCA4):c.1853G>A (p.Gly618Glu)
|
rs61751394
|
|
NM_000350.3(ABCA4):c.1868A>G (p.Gln623Arg)
|
|
|
NM_000350.3(ABCA4):c.1873C>T (p.Gln625Ter)
|
rs878853396
|
|
NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg)
|
rs886044730
|
|
NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys)
|
rs61749414
|
|
NM_000350.3(ABCA4):c.1918C>G (p.Pro640Ala)
|
rs766570903
|
|
NM_000350.3(ABCA4):c.1918C>T (p.Pro640Ser)
|
|
|
NM_000350.3(ABCA4):c.1919C>A (p.Pro640His)
|
|
|
NM_000350.3(ABCA4):c.1919C>G (p.Pro640Arg)
|
|
|
NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu)
|
rs760790294
|
|
NM_000350.3(ABCA4):c.191C>T (p.Ala64Val)
|
|
|
NM_000350.3(ABCA4):c.1922G>C (p.Cys641Ser)
|
rs61749416
|
|
NM_000350.3(ABCA4):c.1934A>G (p.Asp645Gly)
|
rs2101077991
|
|
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)
|
rs62654395
|
|
NM_000350.3(ABCA4):c.1958G>T (p.Arg653Leu)
|
rs141823837
|
|
NM_000350.3(ABCA4):c.1982T>G (p.Leu661Arg)
|
|
|
NM_000350.3(ABCA4):c.1984dup (p.Ala662fs)
|
rs1553192432
|
|
NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter)
|
rs865990202
|
|
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs)
|
rs61749422
|
|
NM_000350.3(ABCA4):c.2029G>A (p.Glu677Lys)
|
rs2101075259
|
|
NM_000350.3(ABCA4):c.2029G>C (p.Glu677Gln)
|
|
|
NM_000350.3(ABCA4):c.2036A>T (p.Glu679Val)
|
rs1553192420
|
|
NM_000350.3(ABCA4):c.203C>G (p.Pro68Arg)
|
rs62654397
|
|
NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)
|
rs61749423
|
|
NM_000350.3(ABCA4):c.209T>C (p.Leu70Pro)
|
rs2101162564
|
|
NM_000350.3(ABCA4):c.2161-2A>G
|
|
|
NM_000350.3(ABCA4):c.2182A>G (p.Ser728Gly)
|
rs1064793007
|
|
NM_000350.3(ABCA4):c.2184C>A (p.Ser728Arg)
|
rs776910485
|
|
NM_000350.3(ABCA4):c.2210T>A (p.Leu737Ter)
|
rs1570387558
|
|
NM_000350.3(ABCA4):c.223T>C (p.Cys75Arg)
|
rs61748526
|
|
NM_000350.3(ABCA4):c.2249T>C (p.Leu750Pro)
|
rs1064793008
|
|
NM_000350.3(ABCA4):c.224G>A (p.Cys75Tyr)
|
|
|
NM_000350.3(ABCA4):c.2261T>C (p.Phe754Ser)
|
|
|
NM_000350.3(ABCA4):c.2288C>A (p.Ala763Asp)
|
rs1660985994
|
|
NM_000350.3(ABCA4):c.2288C>G (p.Ala763Gly)
|
|
|
NM_000350.3(ABCA4):c.2291G>T (p.Cys764Phe)
|
|
|
NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)
|
rs61749429
|
|
NM_000350.3(ABCA4):c.2294GTG[1] (p.Gly766del)
|
rs2101069736
|
|
NM_000350.3(ABCA4):c.2323C>A (p.Pro775Thr)
|
|
|
NM_000350.3(ABCA4):c.2323C>T (p.Pro775Ser)
|
|
|
NM_000350.3(ABCA4):c.2353C>G (p.Arg785Gly)
|
rs781254854
|
|
NM_000350.3(ABCA4):c.2382+1G>A
|
rs1660983058
|
|
NM_000350.3(ABCA4):c.2385C>G (p.Ser795Arg)
|
rs1660946056
|
|
NM_000350.3(ABCA4):c.2390T>C (p.Leu797Pro)
|
rs61749432
|
|
NM_000350.3(ABCA4):c.2402C>T (p.Ala801Val)
|
|
|
NM_000350.3(ABCA4):c.242G>C (p.Cys81Ser)
|
rs1570433137
|
|
NM_000350.3(ABCA4):c.2452G>A (p.Gly818Arg)
|
|
|
NM_000350.3(ABCA4):c.2459A>C (p.Gln820Pro)
|
rs914542176
|
|
NM_000350.3(ABCA4):c.2491G>T (p.Gly831Trp)
|
rs2101067779
|
|
NM_000350.3(ABCA4):c.2522_2530del (p.Gln841_Met843del)
|
|
|
NM_000350.3(ABCA4):c.2531T>G (p.Leu844Arg)
|
rs1660938577
|
|
NM_000350.3(ABCA4):c.2537A>G (p.Asp846Gly)
|
rs779466403
|
|
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val)
|
rs779466403
|
|
NM_000350.3(ABCA4):c.2549A>C (p.Tyr850Ser)
|
|
|
NM_000350.3(ABCA4):c.2549A>G (p.Tyr850Cys)
|
rs143797418
|
|
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn)
|
rs201223321
|
|
NM_000350.3(ABCA4):c.2571del (p.Asp858fs)
|
rs61752407
|
|
NM_000350.3(ABCA4):c.25C>T (p.Leu9Phe)
|
|
|
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter)
|
rs1570382663
|
|
NM_000350.3(ABCA4):c.2626C>T (p.Gln876Ter)
|
rs1660843703
|
|
NM_000350.3(ABCA4):c.2651_2653+2del
|
|
|
NM_000350.3(ABCA4):c.2653+1G>C
|
rs1212420029
|
|
NM_000350.3(ABCA4):c.2653+2T>A
|
|
|
NM_000350.3(ABCA4):c.2653+2T>C
|
|
|
NM_000350.3(ABCA4):c.2653+2del
|
rs766646086
|
|
NM_000350.3(ABCA4):c.2654-1G>A
|
|
|
NM_000350.3(ABCA4):c.2654-2A>G
|
rs2101059901
|
|
NM_000350.3(ABCA4):c.2680dup (p.Leu894fs)
|
rs1570380080
|
|
NM_000350.3(ABCA4):c.2713del (p.Glu905fs)
|
rs869312184
|
|
NM_000350.3(ABCA4):c.2744-1G>T
|
rs2101057505
|
|
NM_000350.3(ABCA4):c.2791G>T (p.Val931Leu)
|
rs58331765
|
|
NM_000350.3(ABCA4):c.2792T>C (p.Val931Ala)
|
|
|
NM_000350.3(ABCA4):c.2803G>A (p.Val935Ile)
|
|
|
NM_000350.3(ABCA4):c.2815G>T (p.Glu939Ter)
|
rs786205447
|
|
NM_000350.3(ABCA4):c.2861A>C (p.Tyr954Ser)
|
rs1660701838
|
|
NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys)
|
rs398123338
|
|
NM_000350.3(ABCA4):c.286A>C (p.Asn96His)
|
rs61748529
|
|
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)
|
rs61748529
|
|
NM_000350.3(ABCA4):c.2873T>A (p.Ile958Asn)
|
rs754082669
|
|
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala)
|
rs368846708
|
|
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser)
|
rs368846708
|
|
NM_000350.3(ABCA4):c.2876C>T (p.Thr959Ile)
|
rs61752409
|
|
NM_000350.3(ABCA4):c.2893A>G (p.Asn965Asp)
|
rs61749449
|
|
NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys)
|
rs1570377861
|
|
NM_000350.3(ABCA4):c.2897G>A (p.Gly966Glu)
|
rs2101057095
|
|
NM_000350.3(ABCA4):c.2909C>T (p.Thr970Ile)
|
rs1660700107
|
|
NM_000350.3(ABCA4):c.2911A>C (p.Thr971Pro)
|
rs745825311
|
|
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)
|
rs61749450
|
|
NM_000350.3(ABCA4):c.2914A>G (p.Thr972Ala)
|
|
|
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)
|
rs61749451
|
|
NM_000350.3(ABCA4):c.2915C>T (p.Thr972Ile)
|
rs61749451
|
|
NM_000350.3(ABCA4):c.2918+1G>A
|
|
|
NM_000350.3(ABCA4):c.2919-2_2925del
|
|
|
NM_000350.3(ABCA4):c.2930C>G (p.Thr977Arg)
|
|
|
NM_000350.3(ABCA4):c.2933G>C (p.Gly978Ala)
|
rs61749453
|
|
NM_000350.3(ABCA4):c.2941C>G (p.Pro981Ala)
|
|
|
NM_000350.3(ABCA4):c.2941C>T (p.Pro981Ser)
|
|
|
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala)
|
rs1368508052
|
|
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile)
|
rs61752411
|
|
NM_000350.3(ABCA4):c.2980_2987del (p.Ile994fs)
|
rs1306732480
|
|
NM_000350.3(ABCA4):c.2T>C (p.Met1Thr)
|
|
|
NM_000350.3(ABCA4):c.3016G>C (p.Gly1006Arg)
|
rs1660620409
|
|
NM_000350.3(ABCA4):c.302+4A>C
|
rs1662599697
|
|
NM_000350.3(ABCA4):c.302+4A>G
|
|
|
NM_000350.3(ABCA4):c.3051-16T>A
|
rs1064793009
|
|
NM_000350.3(ABCA4):c.3051-1G>C
|
rs2101051637
|
|
NM_000350.3(ABCA4):c.3062del (p.Ala1021fs)
|
rs1570373408
|
|
NM_000350.3(ABCA4):c.3066G>C (p.Glu1022Asp)
|
rs2101051595
|
|
NM_000350.3(ABCA4):c.3098del (p.Lys1033fs)
|
rs878853397
|
|
NM_000350.3(ABCA4):c.3134T>C (p.Met1045Thr)
|
|
|
NM_000350.3(ABCA4):c.3148G>A (p.Gly1050Ser)
|
|
|
NM_000350.3(ABCA4):c.3179A>C (p.Gln1060Pro)
|
rs772663974
|
|
NM_000350.3(ABCA4):c.3190+2_3190+18del
|
|
|
NM_000350.3(ABCA4):c.3205A>G (p.Lys1069Glu)
|
|
|
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)
|
rs387906385
|
|
NM_000350.3(ABCA4):c.3223G>A (p.Ala1075Thr)
|
|
|
NM_000350.3(ABCA4):c.3224C>T (p.Ala1075Val)
|
|
|
NM_000350.3(ABCA4):c.3235_3236del (p.Asp1079fs)
|
rs1660532299
|
|
NM_000350.3(ABCA4):c.3248T>A (p.Val1083Glu)
|
rs1660531924
|
|
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp)
|
rs61752416
|
|
NM_000350.3(ABCA4):c.3263C>G (p.Pro1088Arg)
|
rs1660531525
|
|
NM_000350.3(ABCA4):c.3263C>T (p.Pro1088Leu)
|
rs1660531525
|
|
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu)
|
rs61752417
|
|
NM_000350.3(ABCA4):c.3278A>T (p.Asp1093Val)
|
|
|
NM_000350.3(ABCA4):c.3279C>A (p.Asp1093Glu)
|
rs1237125868
|
|
NM_000350.3(ABCA4):c.3281C>A (p.Pro1094His)
|
rs2101050573
|
|
NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu)
|
rs763267492
|
|
NM_000350.3(ABCA4):c.3299T>A (p.Ile1100Asn)
|
rs1553190559
|
|
NM_000350.3(ABCA4):c.329A>C (p.Gln110Pro)
|
rs2101156046
|
|
NM_000350.3(ABCA4):c.3302G>A (p.Trp1101Ter)
|
rs373868915
|
|
NM_000350.3(ABCA4):c.3304G>A (p.Asp1102Asn)
|
rs138641544
|
|
NM_000350.3(ABCA4):c.3323G>T (p.Arg1108Leu)
|
rs61750121
|
|
NM_000350.3(ABCA4):c.3323del (p.Arg1108fs)
|
rs1660527879
|
|
NM_000350.3(ABCA4):c.3328+1G>A
|
rs1660527478
|
|
NM_000350.3(ABCA4):c.3328+2T>A
|
rs1660527423
|
|
NM_000350.3(ABCA4):c.3344T>G (p.Met1115Arg)
|
rs376947008
|
|
NM_000350.3(ABCA4):c.3349A>C (p.Thr1117Pro)
|
rs2101048742
|
|
NM_000350.3(ABCA4):c.3352C>A (p.His1118Asn)
|
|
|
NM_000350.3(ABCA4):c.3354C>G (p.His1118Gln)
|
|
|
NM_000350.3(ABCA4):c.3377T>C (p.Leu1126Pro)
|
rs1047376
|
|
NM_000350.3(ABCA4):c.3379G>A (p.Gly1127Arg)
|
rs1660481072
|
|
NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu)
|
rs1570370929
|
|
NM_000350.3(ABCA4):c.3385C>G (p.Arg1129Gly)
|
rs779426136
|
|
NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His)
|
rs1801269
|
|
NM_000350.3(ABCA4):c.3389T>C (p.Ile1130Thr)
|
rs1064793010
|
|
NM_000350.3(ABCA4):c.3407G>A (p.Gly1136Glu)
|
rs1660480045
|
|
NM_000350.3(ABCA4):c.3412C>T (p.Leu1138Phe)
|
|
|
NM_000350.3(ABCA4):c.3413T>A (p.Leu1138His)
|
rs1287053724
|
|
NM_000350.3(ABCA4):c.3540del (p.Ser1181fs)
|
rs2101047075
|
|
NM_000350.3(ABCA4):c.3607+1G>A
|
rs61752421
|
|
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg)
|
rs1064793011
|
|
NM_000350.3(ABCA4):c.370C>G (p.Arg124Gly)
|
|
|
NM_000350.3(ABCA4):c.37A>G (p.Lys13Glu)
|
rs1131691262
|
|
NM_000350.3(ABCA4):c.3863-2A>G
|
|
|
NM_000350.3(ABCA4):c.4049T>C (p.Leu1350Pro)
|
rs1064793012
|
|
NM_000350.3(ABCA4):c.4070C>T (p.Ala1357Val)
|
rs552517556
|
|
NM_000350.3(ABCA4):c.4128+2T>C
|
|
|
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=)
|
rs1064797113
|
|
NM_000350.3(ABCA4):c.4128G>C (p.Gln1376His)
|
rs1064797113
|
|
NM_000350.3(ABCA4):c.4129-1G>A
|
rs1553189507
|
|
NM_000350.3(ABCA4):c.4192G>A (p.Gly1398Ser)
|
|
|
NM_000350.3(ABCA4):c.4195G>T (p.Glu1399Ter)
|
rs62642573
|
|
NM_000350.3(ABCA4):c.4219C>T (p.Pro1407Ser)
|
|
|
NM_000350.3(ABCA4):c.4220C>T (p.Pro1407Leu)
|
rs1064797091
|
|
NM_000350.3(ABCA4):c.4222del (p.Trp1408fs)
|
rs1571264574
|
|
NM_000350.3(ABCA4):c.4243A>C (p.Thr1415Pro)
|
rs1571264551
|
|
NM_000350.3(ABCA4):c.4253+1G>A
|
rs61750139
|
|
NM_000350.3(ABCA4):c.4253+5G>T
|
rs61750138
|
|
NM_000350.3(ABCA4):c.4254-1G>A
|
rs886044740
|
|
NM_000350.3(ABCA4):c.4254-1G>C
|
rs886044740
|
|
NM_000350.3(ABCA4):c.4258G>C (p.Asp1420His)
|
|
|
NM_000350.3(ABCA4):c.427C>G (p.Pro143Ala)
|
|
|
NM_000350.3(ABCA4):c.428del (p.Pro143fs)
|
rs1662504407
|
|
NM_000350.3(ABCA4):c.4307A>T (p.Asn1436Ile)
|
|
|
NM_000350.3(ABCA4):c.4309A>T (p.Lys1437Ter)
|
rs1283350532
|
|
NM_000350.3(ABCA4):c.4312C>A (p.Pro1438Thr)
|
|
|
NM_000350.3(ABCA4):c.4313C>A (p.Pro1438Gln)
|
|
|
NM_000350.3(ABCA4):c.4313C>G (p.Pro1438Arg)
|
rs774582644
|
|
NM_000350.3(ABCA4):c.4313C>T (p.Pro1438Leu)
|
|
|
NM_000350.3(ABCA4):c.4318T>G (p.Phe1440Val)
|
rs61752433
|
|
NM_000350.3(ABCA4):c.4319T>C (p.Phe1440Ser)
|
rs61750141
|
|
NM_000350.3(ABCA4):c.4324A>G (p.Asn1442Asp)
|
rs2101034926
|
|
NM_000350.3(ABCA4):c.4340A>T (p.Glu1447Val)
|
rs2101034896
|
|
NM_000350.3(ABCA4):c.4340_4343del (p.Glu1447fs)
|
rs1660166963
|
|
NM_000350.3(ABCA4):c.4352+5G>T
|
rs1660166597
|
|
NM_000350.3(ABCA4):c.4352+61G>A
|
rs1478038032
|
|
NM_000350.3(ABCA4):c.4383G>C (p.Trp1461Cys)
|
rs1347261858
|
|
NM_000350.3(ABCA4):c.442+2T>A
|
rs1662504014
|
|
NM_000350.3(ABCA4):c.443-2A>G
|
|
|
NM_000350.3(ABCA4):c.4463G>A (p.Cys1488Tyr)
|
rs61750147
|
|
NM_000350.3(ABCA4):c.4468T>C (p.Cys1490Arg)
|
|
|
NM_000350.3(ABCA4):c.4468T>G (p.Cys1490Gly)
|
rs61750148
|
|
NM_000350.3(ABCA4):c.4505G>T (p.Cys1502Phe)
|
rs1660137001
|
|
NM_000350.3(ABCA4):c.4519G>T (p.Gly1507Trp)
|
rs568792949
|
|
NM_000350.3(ABCA4):c.4520G>C (p.Gly1507Ala)
|
|
|
NM_000350.3(ABCA4):c.452T>C (p.Ile151Thr)
|
rs1012017728
|
|
NM_000350.3(ABCA4):c.4531C>A (p.Pro1511Thr)
|
|
|
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu)
|
rs886046564
|
|
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)
|
rs281865377
|
|
NM_000350.3(ABCA4):c.4539+2064C>T
|
rs1553189179
|
|
NM_000350.3(ABCA4):c.4539+2065C>G
|
|
|
NM_000350.3(ABCA4):c.4540-65_4561delinsCGCTGTGTTCTCTGAGGCAATGAGACACCCACGTTAATTACCTTGGAACTTGAGGACTTATAAGTAGT
|
rs2101027768
|
|
NM_000350.3(ABCA4):c.4540-8T>A
|
rs752607057
|
|
NM_000350.3(ABCA4):c.4552A>G (p.Ser1518Gly)
|
|
|
NM_000350.3(ABCA4):c.4558G>C (p.Glu1520Gln)
|
|
|
NM_000350.3(ABCA4):c.4609del (p.Thr1537fs)
|
rs1659998657
|
|
NM_000350.3(ABCA4):c.4634+1G>C
|
rs767312869
|
|
NM_000350.3(ABCA4):c.4634+1del
|
rs1659997092
|
|
NM_000350.3(ABCA4):c.4654dup (p.Val1552fs)
|
rs1659953619
|
|
NM_000350.3(ABCA4):c.4667+1G>A
|
rs751319688
|
|
NM_000350.3(ABCA4):c.4670A>G (p.Tyr1557Cys)
|
rs1401716074
|
|
NM_000350.3(ABCA4):c.470T>G (p.Leu157Trp)
|
|
|
NM_000350.3(ABCA4):c.5023A>C (p.Thr1675Pro)
|
rs2101020915
|
|
NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe)
|
rs201996979
|
|
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro)
|
rs61753020
|
|
NM_000350.3(ABCA4):c.5068A>G (p.Met1690Val)
|
|
|
NM_000350.3(ABCA4):c.5084C>T (p.Ala1695Val)
|
rs1659842921
|
|
NM_000350.3(ABCA4):c.5086A>G (p.Ser1696Gly)
|
|
|
NM_000350.3(ABCA4):c.5087G>C (p.Ser1696Thr)
|
|
|
NM_000350.3(ABCA4):c.5088C>G (p.Ser1696Arg)
|
rs1435203678
|
|
NM_000350.3(ABCA4):c.5113C>G (p.Arg1705Gly)
|
|
|
NM_000350.3(ABCA4):c.5114G>T (p.Arg1705Leu)
|
rs61753021
|
|
NM_000350.3(ABCA4):c.5137_5138delinsAG (p.Gln1713Arg)
|
rs1659840790
|
|
NM_000350.3(ABCA4):c.514G>T (p.Gly172Cys)
|
|
|
NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter)
|
rs1557767754
|
|
NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs)
|
rs1057518955
|
|
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)
|
rs886044747
|
|
NM_000350.3(ABCA4):c.5196+1056A>G
|
rs886044749
|
|
NM_000350.3(ABCA4):c.5196+2T>C
|
rs61751405
|
|
NM_000350.3(ABCA4):c.5196+3_5196+6del
|
rs61753023
|
|
NM_000350.3(ABCA4):c.5203del (p.Tyr1735fs)
|
rs1659721337
|
|
NM_000350.3(ABCA4):c.5282C>G (p.Pro1761Arg)
|
rs1057520212
|
|
NM_000350.3(ABCA4):c.5288T>C (p.Leu1763Pro)
|
rs61753028
|
|
NM_000350.3(ABCA4):c.5289del (p.Val1764fs)
|
rs1553188071
|
|
NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg)
|
rs374015407
|
|
NM_000350.3(ABCA4):c.5313-2A>G
|
rs759513613
|
|
NM_000350.3(ABCA4):c.5315G>A (p.Trp1772Ter)
|
rs776757706
|
|
NM_000350.3(ABCA4):c.5330T>G (p.Met1777Arg)
|
rs2101013876
|
|
NM_000350.3(ABCA4):c.5333T>A (p.Met1778Lys)
|
rs748706582
|
|
NM_000350.3(ABCA4):c.5363C>T (p.Pro1788Leu)
|
rs886044751
|
|
NM_000350.3(ABCA4):c.5365A>G (p.Ser1789Gly)
|
|
|
NM_000350.3(ABCA4):c.5367C>G (p.Ser1789Arg)
|
|
|
NM_000350.3(ABCA4):c.5371dup (p.Ala1791fs)
|
|
|
NM_000350.3(ABCA4):c.5377G>A (p.Val1793Met)
|
rs1659672463
|
|
NM_000350.3(ABCA4):c.5389T>C (p.Cys1797Arg)
|
|
|
NM_000350.3(ABCA4):c.5391_5392del (p.Cys1797_Ala1798insTer)
|
rs786205445
|
|
NM_000350.3(ABCA4):c.5395A>G (p.Asn1799Asp)
|
rs61750574
|
|
NM_000350.3(ABCA4):c.53G>C (p.Arg18Pro)
|
rs868543294
|
|
NM_000350.3(ABCA4):c.5414A>G (p.Asn1805Ser)
|
|
|
NM_000350.3(ABCA4):c.5453del (p.Asn1818fs)
|
rs2101013633
|
|
NM_000350.3(ABCA4):c.5461-6T>C
|
rs1659543067
|
|
NM_000350.3(ABCA4):c.5510C>T (p.Pro1837Leu)
|
rs1571250077
|
|
NM_000350.3(ABCA4):c.5512C>A (p.His1838Asn)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.5512C>G (p.His1838Asp)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.5512C>T (p.His1838Tyr)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.5513A>G (p.His1838Arg)
|
rs886044752
|
|
NM_000350.3(ABCA4):c.5516T>C (p.Phe1839Ser)
|
rs1297857869
|
|
NM_000350.3(ABCA4):c.5522T>A (p.Leu1841Gln)
|
|
|
NM_000350.3(ABCA4):c.5527C>T (p.Arg1843Trp)
|
rs62642576
|
|
NM_000350.3(ABCA4):c.5528G>A (p.Arg1843Gln)
|
|
|
NM_000350.3(ABCA4):c.5528_5533del (p.Arg1843_Gly1844del)
|
rs1571250020
|
|
NM_000350.3(ABCA4):c.5558C>A (p.Ala1853Asp)
|
rs886044753
|
|
NM_000350.3(ABCA4):c.5573A>G (p.Tyr1858Cys)
|
|
|
NM_000350.3(ABCA4):c.5575G>A (p.Ala1859Thr)
|
|
|
NM_000350.3(ABCA4):c.5580del (p.Phe1861fs)
|
rs1659538743
|
|
NM_000350.3(ABCA4):c.5584+2T>C
|
rs2101008251
|
|
NM_000350.3(ABCA4):c.5584+6T>C
|
rs61750633
|
|
NM_000350.3(ABCA4):c.559C>T (p.Arg187Cys)
|
|
|
NM_000350.3(ABCA4):c.5621T>C (p.Leu1874Pro)
|
|
|
NM_000350.3(ABCA4):c.5637del (p.Phe1880fs)
|
|
|
NM_000350.3(ABCA4):c.5642C>A (p.Ala1881Asp)
|
rs369973540
|
|
NM_000350.3(ABCA4):c.5646G>A (p.Met1882Ile)
|
rs752160946
|
|
NM_000350.3(ABCA4):c.5646G>T (p.Met1882Ile)
|
rs752160946
|
|
NM_000350.3(ABCA4):c.5656G>A (p.Gly1886Arg)
|
rs886044754
|
|
NM_000350.3(ABCA4):c.5687T>A (p.Val1896Asp)
|
rs61750636
|
|
NM_000350.3(ABCA4):c.5690_5704del (p.Gln1897_Phe1901del)
|
rs1659522195
|
|
NM_000350.3(ABCA4):c.5691G>T (p.Gln1897His)
|
rs771092150
|
|
NM_000350.3(ABCA4):c.570+1_570+8del
|
|
|
NM_000350.3(ABCA4):c.570+2T>G
|
|
|
NM_000350.3(ABCA4):c.571-1G>T
|
rs61748533
|
|
NM_000350.3(ABCA4):c.571-2A>T
|
rs61748534
|
|
NM_000350.3(ABCA4):c.5714+1G>T
|
rs1232476760
|
|
NM_000350.3(ABCA4):c.5714+5G>T
|
rs61751407
|
|
NM_000350.3(ABCA4):c.5753A>G (p.Asp1918Gly)
|
rs1659470705
|
|
NM_000350.3(ABCA4):c.5753A>T (p.Asp1918Val)
|
rs1659470705
|
|
NM_000350.3(ABCA4):c.5762_5763del (p.Val1921fs)
|
rs1659469884
|
|
NM_000350.3(ABCA4):c.57A>T (p.Lys19Asn)
|
rs1662934961
|
|
NM_000350.3(ABCA4):c.5819T>A (p.Leu1940Gln)
|
|
|
NM_000350.3(ABCA4):c.5822A>C (p.His1941Pro)
|
rs1161119501
|
|
NM_000350.3(ABCA4):c.5828T>C (p.Leu1943Pro)
|
rs886044755
|
|
NM_000350.3(ABCA4):c.5828T>G (p.Leu1943Arg)
|
|
|
NM_000350.3(ABCA4):c.5846del (p.Gly1949fs)
|
rs1659452428
|
|
NM_000350.3(ABCA4):c.5863G>A (p.Val1955Met)
|
rs2101004195
|
|
NM_000350.3(ABCA4):c.5887C>A (p.Arg1963Ser)
|
|
|
NM_000350.3(ABCA4):c.5898+5G>A
|
|
|
NM_000350.3(ABCA4):c.5898+5del
|
rs922818626
|
|
NM_000350.3(ABCA4):c.5900G>A (p.Cys1967Tyr)
|
rs2101003456
|
|
NM_000350.3(ABCA4):c.5908C>A (p.Leu1970Ile)
|
rs28938473
|
|
NM_000350.3(ABCA4):c.5909T>C (p.Leu1970Pro)
|
rs886044756
|
|
NM_000350.3(ABCA4):c.5915del (p.Gly1972fs)
|
rs1659430143
|
|
NM_000350.3(ABCA4):c.5924G>T (p.Gly1975Val)
|
rs1659429594
|
|
NM_000350.3(ABCA4):c.5929G>C (p.Gly1977Arg)
|
rs61750639
|
|
NM_000350.3(ABCA4):c.5929G>T (p.Gly1977Cys)
|
rs61750639
|
|
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)
|
rs1064793014
|
|
NM_000350.3(ABCA4):c.5935A>G (p.Thr1979Ala)
|
rs1571247308
|
|
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile)
|
rs61753037
|
|
NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg)
|
rs752147871
|
|
NM_000350.3(ABCA4):c.5950A>T (p.Met1984Leu)
|
rs2101003323
|
|
NM_000350.3(ABCA4):c.5959_5964delinsTG (p.Thr1986_Gly1987insTer)
|
rs1659427600
|
|
NM_000350.3(ABCA4):c.5986G>A (p.Ala1996Thr)
|
rs2101003223
|
|
NM_000350.3(ABCA4):c.6005+1G>T
|
rs61748517
|
|
NM_000350.3(ABCA4):c.6006-2A>G
|
|
|
NM_000350.3(ABCA4):c.6044G>T (p.Gly2015Val)
|
|
|
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)
|
rs886044758
|
|
NM_000350.3(ABCA4):c.6098T>C (p.Leu2033Pro)
|
rs1553186896
|
|
NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg)
|
rs1553186896
|
|
NM_000350.3(ABCA4):c.6104T>C (p.Leu2035Pro)
|
rs61750642
|
|
NM_000350.3(ABCA4):c.6113G>C (p.Arg2038Pro)
|
rs767729255
|
|
NM_000350.3(ABCA4):c.6119G>C (p.Arg2040Pro)
|
rs148460146
|
|
NM_000350.3(ABCA4):c.6148-2A>G
|
|
|
NM_000350.3(ABCA4):c.6148-698_6670del
|
|
|
NM_000350.3(ABCA4):c.614G>A (p.Cys205Tyr)
|
|
|
NM_000350.3(ABCA4):c.614G>T (p.Cys205Phe)
|
rs1662214905
|
|
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter)
|
rs61750644
|
|
NM_000350.3(ABCA4):c.6173T>A (p.Leu2058Gln)
|
|
|
NM_000350.3(ABCA4):c.6178C>G (p.Leu2060Val)
|
|
|
NM_000350.3(ABCA4):c.6179T>C (p.Leu2060Pro)
|
|
|
NM_000350.3(ABCA4):c.6191C>G (p.Ala2064Gly)
|
|
|
NM_000350.3(ABCA4):c.6198C>A (p.Cys2066Ter)
|
|
|
NM_000350.3(ABCA4):c.619G>A (p.Glu207Lys)
|
rs147807073
|
|
NM_000350.3(ABCA4):c.61C>T (p.Gln21Ter)
|
rs770272033
|
|
NM_000350.3(ABCA4):c.6213C>G (p.Tyr2071Ter)
|
rs62642580
|
|
NM_000350.3(ABCA4):c.6214A>G (p.Ser2072Gly)
|
|
|
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn)
|
rs1553186514
|
|
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)
|
rs367839100
|
|
NM_000350.3(ABCA4):c.6226A>G (p.Lys2076Glu)
|
rs1553186509
|
|
NM_000350.3(ABCA4):c.6229C>G (p.Arg2077Gly)
|
rs61750645
|
|
NM_000350.3(ABCA4):c.6229C>T (p.Arg2077Trp)
|
rs61750645
|
|
NM_000350.3(ABCA4):c.6230G>T (p.Arg2077Leu)
|
|
|
NM_000350.3(ABCA4):c.6232A>C (p.Lys2078Gln)
|
rs951379922
|
|
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs)
|
rs281865382
|
|
NM_000350.3(ABCA4):c.6245C>T (p.Ala2082Val)
|
rs1659195030
|
|
NM_000350.3(ABCA4):c.6284A>T (p.Asp2095Val)
|
rs1064793015
|
|
NM_000350.3(ABCA4):c.6285_6286inv (p.Glu2096Lys)
|
|
|
NM_000350.3(ABCA4):c.6288G>C (p.Glu2096Asp)
|
rs2100994099
|
|
NM_000350.3(ABCA4):c.6289C>A (p.Pro2097Thr)
|
|
|
NM_000350.3(ABCA4):c.6299G>A (p.Gly2100Glu)
|
rs2100994077
|
|
NM_000350.3(ABCA4):c.629del (p.Leu210fs)
|
rs2101135952
|
|
NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His)
|
rs2100994049
|
|
NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser)
|
rs2297669
|
|
NM_000350.3(ABCA4):c.6323_6331delinsGGC (p.Met2108_Asn2111delinsArgHis)
|
rs1659159979
|
|
NM_000350.3(ABCA4):c.6326T>C (p.Leu2109Pro)
|
rs886044761
|
|
NM_000350.3(ABCA4):c.6328T>C (p.Trp2110Arg)
|
|
|
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro)
|
rs2100993895
|
|
NM_000350.3(ABCA4):c.6386+1G>A
|
rs745654673
|
|
NM_000350.3(ABCA4):c.6386+4A>G
|
|
|
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn)
|
rs1571242070
|
|
NM_000350.3(ABCA4):c.6397T>C (p.Cys2133Arg)
|
|
|
NM_000350.3(ABCA4):c.6401A>G (p.Glu2134Gly)
|
rs2100993742
|
|
NM_000350.3(ABCA4):c.6419T>G (p.Leu2140Arg)
|
rs774475956
|
|
NM_000350.3(ABCA4):c.6425T>A (p.Ile2142Asn)
|
|
|
NM_000350.3(ABCA4):c.6428T>A (p.Met2143Lys)
|
rs1659153516
|
|
NM_000350.3(ABCA4):c.6437G>A (p.Gly2146Asp)
|
rs61753044
|
|
NM_000350.3(ABCA4):c.6446G>C (p.Arg2149Pro)
|
rs61750655
|
|
NM_000350.3(ABCA4):c.6446G>T (p.Arg2149Leu)
|
rs61750655
|
|
NM_000350.3(ABCA4):c.6454G>A (p.Gly2152Ser)
|
|
|
NM_000350.3(ABCA4):c.6454G>T (p.Gly2152Cys)
|
rs1571241947
|
|
NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu)
|
rs1571241930
|
|
NM_000350.3(ABCA4):c.6510dup (p.Ile2171fs)
|
rs1659061509
|
|
NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg)
|
rs886044762
|
|
NM_000350.3(ABCA4):c.66+1G>C
|
|
|
NM_000350.3(ABCA4):c.66+1del
|
rs1662934446
|
|
NM_000350.3(ABCA4):c.66+2T>C
|
|
|
NM_000350.3(ABCA4):c.6647C>A (p.Ala2216Glu)
|
|
|
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)
|
rs61753046
|
|
NM_000350.3(ABCA4):c.6698A>T (p.Glu2233Val)
|
rs2100987881
|
|
NM_000350.3(ABCA4):c.67-2A>G
|
rs398123339
|
|
NM_000350.3(ABCA4):c.6713A>G (p.Gln2238Arg)
|
rs886044764
|
|
NM_000350.3(ABCA4):c.6729+5_6729+19del
|
rs749526785
|
|
NM_000350.3(ABCA4):c.6731T>A (p.Val2244Glu)
|
rs1658995249
|
|
NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser)
|
rs149780335
|
|
NM_000350.3(ABCA4):c.6787C>G (p.Arg2263Gly)
|
|
|
NM_000350.3(ABCA4):c.6788G>A (p.Arg2263Gln)
|
rs281865407
|
|
NM_000350.3(ABCA4):c.6816+2T>A
|
rs112005636
|
|
NM_000350.3(ABCA4):c.6817-2A>G
|
rs1658918693
|
|
NM_000350.3(ABCA4):c.688T>A (p.Cys230Ser)
|
rs1057518767
|
|
NM_000350.3(ABCA4):c.689G>A (p.Cys230Tyr)
|
|
|
NM_000350.3(ABCA4):c.689G>T (p.Cys230Phe)
|
|
|
NM_000350.3(ABCA4):c.70C>G (p.Arg24Gly)
|
rs62645942
|
|
NM_000350.3(ABCA4):c.712C>T (p.Gln238Ter)
|
rs1356104318
|
|
NM_000350.3(ABCA4):c.719T>G (p.Ile240Arg)
|
rs1553195472
|
|
NM_000350.3(ABCA4):c.727_728dup (p.Tyr245fs)
|
rs1662208443
|
|
NM_000350.3(ABCA4):c.731T>C (p.Leu244Pro)
|
rs62646864
|
|
NM_000350.3(ABCA4):c.735T>G (p.Tyr245Ter)
|
rs1662208035
|
|
NM_000350.3(ABCA4):c.758T>A (p.Leu253His)
|
rs2101135424
|
|
NM_000350.3(ABCA4):c.769-784C>T
|
|
|
NM_000350.3(ABCA4):c.834del (p.Asp279fs)
|
rs779743222
|
|
NM_000350.3(ABCA4):c.859-1G>C
|
rs2101107143
|
|
NM_000350.3(ABCA4):c.859-9T>C
|
rs529598960
|
|
NM_000350.3(ABCA4):c.86T>G (p.Leu29Arg)
|
rs886044719
|
|
NM_000350.3(ABCA4):c.91T>C (p.Trp31Arg)
|
|
|
NM_000350.3(ABCA4):c.926C>A (p.Pro309Gln)
|
|
|
NM_000350.3(ABCA4):c.982G>A (p.Glu328Lys)
|
rs61751418
|
|
NM_000350.3(ABCA4):c.[1411G>A;5693G>A]
|
|
|
NM_000350.3(ABCA4):c.[1531C>T;872C>T]
|
|
|
NM_000350.3(ABCA4):c.[1610G>A;5603A>T]
|
|
|
NM_000350.3(ABCA4):c.[2588G>C;5603A>T]
|
|
|
NM_000350.3(ABCA4):c.[3322C>T;6320G>A]
|
|
|
NM_000350.3(ABCA4):c.[52C>T;5603A>T]
|
|
|
NM_000350.3(ABCA4):c.[5461-10T>C;5603A>T]
|
|
|
NM_000350.3(ABCA4):c.[5603A>T;5714+5G>A]
|
|
|