NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)
|
rs1762114
|
0.78856
|
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=)
|
rs1801555
|
0.27862
|
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg)
|
rs3112831
|
0.25928
|
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)
|
rs1801574
|
0.23813
|
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)
|
rs4147857
|
0.20473
|
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)
|
rs2275029
|
0.19626
|
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)
|
rs6666652
|
0.17582
|
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)
|
rs1801359
|
0.13311
|
NM_000350.3(ABCA4):c.1269C>T (p.His423=)
|
rs4147831
|
0.09402
|
NM_000350.3(ABCA4):c.635G>A (p.Arg212His)
|
rs6657239
|
0.04939
|
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)
|
rs56142141
|
0.03191
|
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)
|
rs1801581
|
0.02951
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)
|
rs61749417
|
0.00491
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)
|
rs61749435
|
0.00385
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile)
|
rs145525174
|
0.00246
|
NM_000350.3(ABCA4):c.1653G>A (p.Val551=)
|
rs61753963
|
0.00243
|
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)
|
rs61749455
|
0.00194
|
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile)
|
rs56357060
|
0.00189
|
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)
|
rs61748519
|
0.00185
|
NM_000350.3(ABCA4):c.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.4283C>T (p.Thr1428Met)
|
rs1800549
|
0.00160
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_000350.3(ABCA4):c.4128+11C>T
|
rs202102586
|
0.00148
|
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)
|
rs58331765
|
0.00136
|
NM_000350.3(ABCA4):c.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.2966T>C (p.Val989Ala)
|
rs61749454
|
0.00089
|
NM_000350.3(ABCA4):c.4129-17C>T
|
rs200194007
|
0.00088
|
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile)
|
rs61750563
|
0.00088
|
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=)
|
rs117400594
|
0.00078
|
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)
|
rs61753019
|
0.00076
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys)
|
rs75267647
|
0.00066
|
NM_000350.3(ABCA4):c.981C>T (p.Pro327=)
|
rs61753057
|
0.00054
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_000350.3(ABCA4):c.4353-4T>C
|
rs375886479
|
0.00039
|
NM_000350.3(ABCA4):c.926C>G (p.Pro309Arg)
|
rs61748545
|
0.00039
|
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
|
rs140482171
|
0.00037
|
NM_000350.3(ABCA4):c.4352+15G>A
|
rs139611589
|
0.00036
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_000350.3(ABCA4):c.5992G>A (p.Val1998Ile)
|
rs147870733
|
0.00036
|
NM_000350.3(ABCA4):c.1969A>G (p.Ile657Val)
|
rs199590367
|
0.00034
|
NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg)
|
rs144995371
|
0.00034
|
NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys)
|
rs150895509
|
0.00034
|
NM_000350.3(ABCA4):c.6316C>T (p.Arg2106Cys)
|
rs61750648
|
0.00034
|
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys)
|
rs200692438
|
0.00033
|
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser)
|
rs61748532
|
0.00033
|
NM_000350.3(ABCA4):c.2383-12G>A
|
rs368548294
|
0.00031
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_000350.3(ABCA4):c.2486C>T (p.Thr829Met)
|
rs139250920
|
0.00029
|
NM_000350.3(ABCA4):c.294C>G (p.Asn98Lys)
|
rs145133167
|
0.00028
|
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)
|
rs148460146
|
0.00024
|
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
|
rs61750130
|
0.00023
|
NM_000350.3(ABCA4):c.667A>C (p.Lys223Gln)
|
rs147619585
|
0.00023
|
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=)
|
rs376624031
|
0.00022
|
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)
|
rs1801269
|
0.00022
|
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)
|
rs61750120
|
0.00019
|
NM_000350.3(ABCA4):c.4128+16G>A
|
rs61783968
|
0.00018
|
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
0.00018
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)
|
rs61750152
|
0.00016
|
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)
|
rs201602424
|
0.00014
|
NM_000350.3(ABCA4):c.3363C>T (p.Asp1121=)
|
rs146117512
|
0.00014
|
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)
|
rs121909207
|
0.00014
|
NM_000350.3(ABCA4):c.5196+1137G>A
|
rs778234759
|
0.00013
|
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys)
|
rs138157885
|
0.00011
|
NM_000350.3(ABCA4):c.3329-11C>T
|
rs367580653
|
0.00011
|
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=)
|
rs570745701
|
0.00010
|
NM_000350.3(ABCA4):c.6718A>G (p.Thr2240Ala)
|
rs779585931
|
0.00010
|
NM_000350.3(ABCA4):c.2813T>C (p.Phe938Ser)
|
rs149071415
|
0.00009
|
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)
|
rs61750145
|
0.00009
|
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met)
|
rs202127235
|
0.00009
|
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu)
|
rs190540405
|
0.00009
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
0.00008
|
NM_000350.3(ABCA4):c.673G>A (p.Val225Met)
|
rs540124349
|
0.00008
|
NM_000350.3(ABCA4):c.1459C>T (p.Arg487Trp)
|
rs369286283
|
0.00007
|
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)
|
rs201471607
|
0.00007
|
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)
|
rs752786160
|
0.00006
|
NM_000350.3(ABCA4):c.1818C>T (p.Gly606=)
|
rs377164833
|
0.00006
|
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu)
|
rs61750202
|
0.00006
|
NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg)
|
rs140281495
|
0.00006
|
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=)
|
rs180921875
|
0.00006
|
NM_000350.3(ABCA4):c.302+1G>A
|
rs61751413
|
0.00006
|
NM_000350.3(ABCA4):c.302+68C>T
|
rs761188244
|
0.00006
|
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)
|
rs756840095
|
0.00006
|
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr)
|
rs61751402
|
0.00006
|
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)
|
rs62642574
|
0.00006
|
NM_000350.3(ABCA4):c.71G>A (p.Arg24His)
|
rs62645958
|
0.00006
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_000350.3(ABCA4):c.1251T>C (p.Thr417=)
|
rs374336459
|
0.00005
|
NM_000350.3(ABCA4):c.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.570+1798A>G
|
rs888731641
|
0.00005
|
NM_000350.3(ABCA4):c.6282+9G>A
|
rs758705900
|
0.00005
|
NM_000350.3(ABCA4):c.6449G>A (p.Cys2150Tyr)
|
rs61751384
|
0.00005
|
NM_000350.3(ABCA4):c.764G>A (p.Arg255His)
|
rs148387660
|
0.00005
|
NM_000350.3(ABCA4):c.1208A>T (p.Asp403Val)
|
rs913030626
|
0.00004
|
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)
|
rs61748550
|
0.00004
|
NM_000350.3(ABCA4):c.156T>G (p.His52Gln)
|
rs557725292
|
0.00004
|
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met)
|
rs74516571
|
0.00004
|
NM_000350.3(ABCA4):c.1729G>A (p.Val577Met)
|
rs547063913
|
0.00004
|
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)
|
rs61749412
|
0.00004
|
NM_000350.3(ABCA4):c.1958G>A (p.Arg653His)
|
rs141823837
|
0.00004
|
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp)
|
rs61751395
|
0.00004
|
NM_000350.3(ABCA4):c.2924T>C (p.Ile975Thr)
|
rs146140442
|
0.00004
|
NM_000350.3(ABCA4):c.3539C>T (p.Ser1180Leu)
|
rs267598773
|
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.5560G>T (p.Val1854Leu)
|
rs374687000
|
0.00004
|
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=)
|
rs191506332
|
0.00004
|
NM_000350.3(ABCA4):c.575C>T (p.Ala192Val)
|
rs185729337
|
0.00004
|
NM_000350.3(ABCA4):c.6112C>T (p.Arg2038Trp)
|
rs61750643
|
0.00004
|
NM_000350.3(ABCA4):c.6319C>T (p.Arg2107Cys)
|
rs2297669
|
0.00004
|
NM_000350.3(ABCA4):c.847A>G (p.Arg283Gly)
|
rs141802200
|
0.00004
|
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)
|
rs61748556
|
0.00003
|
NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His)
|
rs61750121
|
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.5381C>A (p.Ala1794Asp)
|
rs61751406
|
0.00003
|
NM_000350.3(ABCA4):c.5413A>G (p.Asn1805Asp)
|
rs61753029
|
0.00003
|
NM_000350.3(ABCA4):c.5791G>A (p.Gly1931Ser)
|
rs757462382
|
0.00003
|
NM_000350.3(ABCA4):c.5824G>C (p.Glu1942Gln)
|
rs760353830
|
0.00003
|
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)
|
rs61748521
|
0.00003
|
NM_000350.3(ABCA4):c.6806G>A (p.Arg2269Gln)
|
rs202223056
|
0.00003
|
NM_000350.3(ABCA4):c.1007C>G (p.Ser336Cys)
|
rs61748547
|
0.00002
|
NM_000350.3(ABCA4):c.1615C>G (p.Leu539Val)
|
rs748615703
|
0.00002
|
NM_000350.3(ABCA4):c.1745A>G (p.Asn582Ser)
|
rs368362755
|
0.00002
|
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)
|
rs55732384
|
0.00002
|
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)
|
rs61749409
|
0.00002
|
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)
|
rs145961131
|
0.00002
|
NM_000350.3(ABCA4):c.2126C>T (p.Ser709Leu)
|
rs374152623
|
0.00002
|
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp)
|
rs61749446
|
0.00002
|
NM_000350.3(ABCA4):c.2862C>T (p.Tyr954=)
|
rs757870374
|
0.00002
|
NM_000350.3(ABCA4):c.3050+5G>A
|
rs61751262
|
0.00002
|
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)
|
rs201855602
|
0.00002
|
NM_000350.3(ABCA4):c.3291A>G (p.Arg1097=)
|
rs61750118
|
0.00002
|
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)
|
rs61751399
|
0.00002
|
NM_000350.3(ABCA4):c.3449G>A (p.Cys1150Tyr)
|
rs375783686
|
0.00002
|
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter)
|
rs61752427
|
0.00002
|
NM_000350.3(ABCA4):c.3972G>A (p.Ala1324=)
|
rs200965081
|
0.00002
|
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr)
|
rs142673376
|
0.00002
|
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg)
|
rs281865402
|
0.00002
|
NM_000350.3(ABCA4):c.6496A>G (p.Ile2166Val)
|
rs200658526
|
0.00002
|
NM_000350.3(ABCA4):c.6528C>T (p.Asp2176=)
|
rs767917933
|
0.00002
|
NM_000350.3(ABCA4):c.656G>C (p.Arg219Thr)
|
rs61748537
|
0.00002
|
NM_000350.3(ABCA4):c.6579C>T (p.Phe2193=)
|
rs763108716
|
0.00002
|
NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys)
|
rs62645952
|
0.00002
|
NM_000350.3(ABCA4):c.885del (p.Leu296fs)
|
rs764759172
|
0.00002
|
NM_000350.3(ABCA4):c.945G>A (p.Leu315=)
|
rs764002833
|
0.00002
|
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly)
|
rs61751420
|
0.00001
|
NM_000350.3(ABCA4):c.1037A>C (p.Lys346Thr)
|
rs61752389
|
0.00001
|
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser)
|
rs794726979
|
0.00001
|
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)
|
rs61748552
|
0.00001
|
NM_000350.3(ABCA4):c.1586A>G (p.Asn529Ser)
|
rs764995626
|
0.00001
|
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg)
|
rs61748558
|
0.00001
|
NM_000350.3(ABCA4):c.1726G>C (p.Asp576His)
|
rs374224955
|
0.00001
|
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile)
|
rs61752398
|
0.00001
|
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu)
|
rs1057520211
|
0.00001
|
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)
|
rs61749420
|
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.2160+1G>T
|
rs61749427
|
0.00001
|
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr)
|
rs61749428
|
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.2654-6G>A
|
rs759220318
|
0.00001
|
NM_000350.3(ABCA4):c.2654-8T>G
|
rs765263670
|
0.00001
|
NM_000350.3(ABCA4):c.2712G>A (p.Thr904=)
|
rs546067089
|
0.00001
|
NM_000350.3(ABCA4):c.2841C>T (p.Asp947=)
|
rs200551567
|
0.00001
|
NM_000350.3(ABCA4):c.2870A>G (p.Gln957Arg)
|
rs61749448
|
0.00001
|
NM_000350.3(ABCA4):c.2920T>C (p.Ser974Pro)
|
rs281865400
|
0.00001
|
NM_000350.3(ABCA4):c.298T>C (p.Ser100Pro)
|
rs61748530
|
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.3194G>A (p.Gly1065Asp)
|
rs886039300
|
0.00001
|
NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter)
|
rs765429911
|
0.00001
|
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)
|
rs61751398
|
0.00001
|
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)
|
rs62645946
|
0.00001
|
NM_000350.3(ABCA4):c.3329-1G>A
|
rs544428779
|
0.00001
|
NM_000350.3(ABCA4):c.3413T>C (p.Leu1138Pro)
|
rs1287053724
|
0.00001
|
NM_000350.3(ABCA4):c.3523-2A>G
|
rs1168144507
|
0.00001
|
NM_000350.3(ABCA4):c.3994C>T (p.Gln1332Ter)
|
rs61752428
|
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.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.4416G>A (p.Gln1472=)
|
rs780663071
|
0.00001
|
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)
|
rs61750146
|
0.00001
|
NM_000350.3(ABCA4):c.4506C>T (p.Cys1502=)
|
rs61750149
|
0.00001
|
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)
|
rs62646861
|
0.00001
|
NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr)
|
rs1385119665
|
0.00001
|
NM_000350.3(ABCA4):c.5026A>T (p.Thr1676Ser)
|
rs753489583
|
0.00001
|
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)
|
rs771038310
|
0.00001
|
NM_000350.3(ABCA4):c.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.5337C>G (p.Tyr1779Ter)
|
rs61750573
|
0.00001
|
NM_000350.3(ABCA4):c.5361C>T (p.Val1787=)
|
rs757545714
|
0.00001
|
NM_000350.3(ABCA4):c.5460+1G>T
|
rs61753030
|
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.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.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.6250G>A (p.Ala2084Thr)
|
rs1250914690
|
0.00001
|
NM_000350.3(ABCA4):c.6269C>T (p.Pro2090Leu)
|
rs533271864
|
0.00001
|
NM_000350.3(ABCA4):c.6270G>A (p.Pro2090=)
|
rs755217474
|
0.00001
|
NM_000350.3(ABCA4):c.6317G>A (p.Arg2106His)
|
rs1057520213
|
0.00001
|
NM_000350.3(ABCA4):c.6342G>A (p.Val2114=)
|
rs61748520
|
0.00001
|
NM_000350.3(ABCA4):c.6391G>A (p.Glu2131Lys)
|
rs61750652
|
0.00001
|
NM_000350.3(ABCA4):c.6445C>T (p.Arg2149Ter)
|
rs61750654
|
0.00001
|
NM_000350.3(ABCA4):c.6494A>G (p.Tyr2165Cys)
|
rs940867738
|
0.00001
|
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)
|
rs61748538
|
0.00001
|
NM_000350.3(ABCA4):c.6686T>C (p.Leu2229Pro)
|
rs61750659
|
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.868C>T (p.Arg290Trp)
|
rs781716640
|
0.00001
|
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.1025_1038del (p.Asp342fs)
|
rs63749083
|
|
NM_000350.3(ABCA4):c.1034A>G (p.Tyr345Cys)
|
rs1417184535
|
|
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter)
|
rs61752390
|
|
NM_000350.3(ABCA4):c.108del (p.Leu37fs)
|
rs62642569
|
|
NM_000350.3(ABCA4):c.1192dup (p.Ile398fs)
|
rs1661625047
|
|
NM_000350.3(ABCA4):c.1240-8G>A
|
rs185225547
|
|
NM_000350.3(ABCA4):c.1247C>G (p.Ser416Ter)
|
|
|
NM_000350.3(ABCA4):c.1302del (p.Gln437fs)
|
rs1448468321
|
|
NM_000350.3(ABCA4):c.1317G>A (p.Trp439Ter)
|
rs61752391
|
|
NM_000350.3(ABCA4):c.1351A>C (p.Ile451Leu)
|
|
|
NM_000350.3(ABCA4):c.1460G>A (p.Arg487Gln)
|
rs145614671
|
|
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.1529T>G (p.Leu510Arg)
|
rs886039299
|
|
NM_000350.3(ABCA4):c.153T>C (p.His51=)
|
|
|
NM_000350.3(ABCA4):c.1557C>A (p.Cys519Ter)
|
rs1553192726
|
|
NM_000350.3(ABCA4):c.160+2T>A
|
rs886044721
|
|
NM_000350.3(ABCA4):c.166T>A (p.Phe56Ile)
|
rs1662606557
|
|
NM_000350.3(ABCA4):c.1715G>C (p.Arg572Pro)
|
rs61748559
|
|
NM_000350.3(ABCA4):c.1759A>G (p.Arg587Gly)
|
rs1661175150
|
|
NM_000350.3(ABCA4):c.1760+2T>G
|
rs61751385
|
|
NM_000350.3(ABCA4):c.1761G>T (p.Arg587Ser)
|
rs1661166945
|
|
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His)
|
rs1064793006
|
|
NM_000350.3(ABCA4):c.1811T>G (p.Ile604Ser)
|
rs61749411
|
|
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.1862G>C (p.Arg621Thr)
|
|
|
NM_000350.3(ABCA4):c.1873C>T (p.Gln625Ter)
|
rs878853396
|
|
NM_000350.3(ABCA4):c.1903C>A (p.Gln635Lys)
|
rs61749414
|
|
NM_000350.3(ABCA4):c.1917C>A (p.Tyr639Ter)
|
rs61749415
|
|
NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu)
|
rs760790294
|
|
NM_000350.3(ABCA4):c.1933G>A (p.Asp645Asn)
|
rs61749418
|
|
NM_000350.3(ABCA4):c.1937+5G>A
|
rs536864160
|
|
NM_000350.3(ABCA4):c.194G>A (p.Gly65Glu)
|
rs62654395
|
|
NM_000350.3(ABCA4):c.1984dup (p.Ala662fs)
|
rs1553192432
|
|
NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter)
|
rs757302286
|
|
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs)
|
rs61749422
|
|
NM_000350.3(ABCA4):c.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.2099G>A (p.Trp700Ter)
|
rs61749425
|
|
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.2537A>T (p.Asp846Val)
|
rs779466403
|
|
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.2626C>T (p.Gln876Ter)
|
rs1660843703
|
|
NM_000350.3(ABCA4):c.2713del (p.Glu905fs)
|
rs869312184
|
|
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.2893A>G (p.Asn965Asp)
|
rs61749449
|
|
NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys)
|
rs1570377861
|
|
NM_000350.3(ABCA4):c.2911A>C (p.Thr971Pro)
|
rs745825311
|
|
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)
|
rs61749451
|
|
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.2980_2987del (p.Ile994fs)
|
rs1306732480
|
|
NM_000350.3(ABCA4):c.3017G>A (p.Gly1006Asp)
|
rs1660620340
|
|
NM_000350.3(ABCA4):c.302+4A>C
|
rs1662599697
|
|
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.3098del (p.Lys1033fs)
|
rs878853397
|
|
NM_000350.3(ABCA4):c.3117G>C (p.Gln1039His)
|
|
|
NM_000350.3(ABCA4):c.3119T>C (p.Leu1040Pro)
|
|
|
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)
|
rs387906385
|
|
NM_000350.3(ABCA4):c.3235_3236del (p.Asp1079fs)
|
rs1660532299
|
|
NM_000350.3(ABCA4):c.3261A>C (p.Glu1087Asp)
|
rs61752416
|
|
NM_000350.3(ABCA4):c.3279C>A (p.Asp1093Glu)
|
rs1237125868
|
|
NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu)
|
rs763267492
|
|
NM_000350.3(ABCA4):c.3291A>T (p.Arg1097Ser)
|
rs61750118
|
|
NM_000350.3(ABCA4):c.3299T>A (p.Ile1100Asn)
|
rs1553190559
|
|
NM_000350.3(ABCA4):c.3302G>A (p.Trp1101Ter)
|
rs373868915
|
|
NM_000350.3(ABCA4):c.3303G>A (p.Trp1101Ter)
|
rs61752419
|
|
NM_000350.3(ABCA4):c.3339C>T (p.Ile1113=)
|
|
|
NM_000350.3(ABCA4):c.3378T>C (p.Leu1126=)
|
|
|
NM_000350.3(ABCA4):c.3379G>A (p.Gly1127Arg)
|
rs1660481072
|
|
NM_000350.3(ABCA4):c.337C>G (p.Leu113Val)
|
|
|
NM_000350.3(ABCA4):c.3383A>G (p.Asp1128Gly)
|
rs1660480861
|
|
NM_000350.3(ABCA4):c.3386G>A (p.Arg1129His)
|
rs1801269
|
|
NM_000350.3(ABCA4):c.3398T>C (p.Ile1133Thr)
|
rs1432207212
|
|
NM_000350.3(ABCA4):c.3407G>A (p.Gly1136Glu)
|
rs1660480045
|
|
NM_000350.3(ABCA4):c.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.3607+1G>A
|
rs61752421
|
|
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.4203C>T (p.Pro1401=)
|
rs1801666
|
|
NM_000350.3(ABCA4):c.4253+5G>T
|
rs61750138
|
|
NM_000350.3(ABCA4):c.4254-1G>A
|
rs886044740
|
|
NM_000350.3(ABCA4):c.4265C>G (p.Pro1422Arg)
|
|
|
NM_000350.3(ABCA4):c.4309A>T (p.Lys1437Ter)
|
rs1283350532
|
|
NM_000350.3(ABCA4):c.4340_4343del (p.Glu1447fs)
|
rs1660166963
|
|
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.4468T>G (p.Cys1490Gly)
|
rs61750148
|
|
NM_000350.3(ABCA4):c.4505G>T (p.Cys1502Phe)
|
rs1660137001
|
|
NM_000350.3(ABCA4):c.4517C>T (p.Ala1506Val)
|
|
|
NM_000350.3(ABCA4):c.4537del (p.Gln1513fs)
|
rs281865377
|
|
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)
|
rs281865377
|
|
NM_000350.3(ABCA4):c.4539+2000G>A
|
rs1660073175
|
|
NM_000350.3(ABCA4):c.4540-2A>G
|
rs61752435
|
|
NM_000350.3(ABCA4):c.4557G>A (p.Thr1519=)
|
|
|
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter)
|
rs62645957
|
|
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)
|
rs138475920
|
|
NM_000350.3(ABCA4):c.462G>A (p.Arg154=)
|
rs1253706083
|
|
NM_000350.3(ABCA4):c.4634+1del
|
rs1659997092
|
|
NM_000350.3(ABCA4):c.4638A>T (p.Leu1546Phe)
|
|
|
NM_000350.3(ABCA4):c.4654dup (p.Val1552fs)
|
rs1659953619
|
|
NM_000350.3(ABCA4):c.4667+1G>A
|
rs751319688
|
|
NM_000350.3(ABCA4):c.4668-15C>T
|
rs61754054
|
|
NM_000350.3(ABCA4):c.4668-2A>G
|
rs1659914923
|
|
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.5044_5058del (p.Val1682_Val1686del)
|
rs62646872
|
|
NM_000350.3(ABCA4):c.5059A>T (p.Ile1687Phe)
|
rs201996979
|
|
NM_000350.3(ABCA4):c.5080C>A (p.Pro1694Thr)
|
rs1659843027
|
|
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.5172G>T (p.Trp1724Cys)
|
rs1557767754
|
|
NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs)
|
rs1057518955
|
|
NM_000350.3(ABCA4):c.5180A>G (p.Asn1727Ser)
|
|
|
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)
|
rs886044747
|
|
NM_000350.3(ABCA4):c.5196+1056A>G
|
rs886044749
|
|
NM_000350.3(ABCA4):c.5196+1136C>A
|
rs114147805
|
|
NM_000350.3(ABCA4):c.5196+2T>C
|
rs61751405
|
|
NM_000350.3(ABCA4):c.5203del (p.Tyr1735fs)
|
rs1659721337
|
|
NM_000350.3(ABCA4):c.5208C>T (p.Ser1736=)
|
|
|
NM_000350.3(ABCA4):c.5222_5232del (p.Leu1741fs)
|
rs61750569
|
|
NM_000350.3(ABCA4):c.5282C>G (p.Pro1761Arg)
|
rs1057520212
|
|
NM_000350.3(ABCA4):c.5289del (p.Val1764fs)
|
rs1553188071
|
|
NM_000350.3(ABCA4):c.5308T>G (p.Tyr1770Asp)
|
rs1195430987
|
|
NM_000350.3(ABCA4):c.5313-2A>G
|
rs759513613
|
|
NM_000350.3(ABCA4):c.5315G>A (p.Trp1772Ter)
|
rs776757706
|
|
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.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.5512C>T (p.His1838Tyr)
|
rs62642562
|
|
NM_000350.3(ABCA4):c.5519G>C (p.Cys1840Ser)
|
rs946348819
|
|
NM_000350.3(ABCA4):c.5575G>A (p.Ala1859Thr)
|
|
|
NM_000350.3(ABCA4):c.5580del (p.Phe1861fs)
|
rs1659538743
|
|
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.570+2T>G
|
|
|
NM_000350.3(ABCA4):c.5714+19C>A
|
rs1659521212
|
|
NM_000350.3(ABCA4):c.5719_5720delinsTT (p.Ala1907Phe)
|
rs1659472146
|
|
NM_000350.3(ABCA4):c.5754T>C (p.Asp1918=)
|
|
|
NM_000350.3(ABCA4):c.5822A>C (p.His1941Pro)
|
rs1161119501
|
|
NM_000350.3(ABCA4):c.583G>A (p.Val195Ile)
|
|
|
NM_000350.3(ABCA4):c.583G>C (p.Val195Leu)
|
rs1206857720
|
|
NM_000350.3(ABCA4):c.5846del (p.Gly1949fs)
|
rs1659452428
|
|
NM_000350.3(ABCA4):c.5887C>A (p.Arg1963Ser)
|
|
|
NM_000350.3(ABCA4):c.5898+1G>A
|
rs61750638
|
|
NM_000350.3(ABCA4):c.5899-2del
|
rs1553187162
|
|
NM_000350.3(ABCA4):c.5915del (p.Gly1972fs)
|
rs1659430143
|
|
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)
|
rs61751389
|
|
NM_000350.3(ABCA4):c.5929G>C (p.Gly1977Arg)
|
rs61750639
|
|
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)
|
rs1064793014
|
|
NM_000350.3(ABCA4):c.5935A>G (p.Thr1979Ala)
|
rs1571247308
|
|
NM_000350.3(ABCA4):c.5951T>G (p.Met1984Arg)
|
rs1259778135
|
|
NM_000350.3(ABCA4):c.6005+1G>A
|
rs61748517
|
|
NM_000350.3(ABCA4):c.6005+1G>T
|
rs61748517
|
|
NM_000350.3(ABCA4):c.6091G>A (p.Glu2031Lys)
|
rs1659353934
|
|
NM_000350.3(ABCA4):c.6094C>T (p.His2032Tyr)
|
rs183398940
|
|
NM_000350.3(ABCA4):c.6095A>G (p.His2032Arg)
|
rs1242866408
|
|
NM_000350.3(ABCA4):c.6098T>G (p.Leu2033Arg)
|
rs1553186896
|
|
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.6166A>T (p.Lys2056Ter)
|
rs61750644
|
|
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.6208_6209delinsCA (p.Thr2070Gln)
|
rs1659197672
|
|
NM_000350.3(ABCA4):c.6213C>G (p.Tyr2071Ter)
|
rs62642580
|
|
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.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.6285_6286inv (p.Glu2096Lys)
|
|
|
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.6386+1G>A
|
rs745654673
|
|
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.6510dup (p.Ile2171fs)
|
rs1659061509
|
|
NM_000350.3(ABCA4):c.655A>T (p.Arg219Ter)
|
rs757557272
|
|
NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter)
|
rs61753045
|
|
NM_000350.3(ABCA4):c.6620A>G (p.Gln2207Arg)
|
|
|
NM_000350.3(ABCA4):c.6666C>T (p.Leu2222=)
|
|
|
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)
|
rs63749055
|
|
NM_000350.3(ABCA4):c.67-2A>G
|
rs398123339
|
|
NM_000350.3(ABCA4):c.6729+5_6729+19del
|
rs749526785
|
|
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.6817-2A>G
|
rs1658918693
|
|
NM_000350.3(ABCA4):c.712C>T (p.Gln238Ter)
|
rs1356104318
|
|
NM_000350.3(ABCA4):c.731T>C (p.Leu244Pro)
|
rs62646864
|
|
NM_000350.3(ABCA4):c.740A>C (p.Asn247Thr)
|
|
|
NM_000350.3(ABCA4):c.791G>A (p.Arg264His)
|
rs567985213
|
|
NM_000350.3(ABCA4):c.834del (p.Asp279fs)
|
rs779743222
|
|
NM_000350.3(ABCA4):c.853C>T (p.Gln285Ter)
|
rs886041951
|
|
NM_000350.3(ABCA4):c.859-14_859-13del
|
rs1661673887
|
|
NM_000350.3(ABCA4):c.859-9T>C
|
rs529598960
|
|
NM_000350.3(ABCA4):c.911_937del (p.Met304_Phe312del)
|
rs1440228037
|
|
NM_000350.3(ABCA4):c.913C>T (p.Gln305Ter)
|
rs1661669685
|
|
NM_000350.3(ABCA4):c.93G>A (p.Trp31Ter)
|
rs1191816747
|
|
NM_000350.3(ABCA4):c.947T>C (p.Met316Thr)
|
|
|
NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter)
|
rs61751418
|
|