NM_000350.3(ABCA4):c.570+1888A>G
|
rs577059
|
0.99685
|
NM_000350.3(ABCA4):c.141A>G (p.Pro47=)
|
rs4847281
|
0.98746
|
NM_000350.3(ABCA4):c.3050+538_3050+541del
|
rs146620420
|
0.92164
|
NM_000350.3(ABCA4):c.5836-167C>T
|
rs1191234
|
0.86731
|
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)
|
rs1762114
|
0.78856
|
NM_000350.3(ABCA4):c.769-86A>G
|
rs574741
|
0.73478
|
NM_000350.3(ABCA4):c.2160+470T>C
|
rs521538
|
0.70254
|
NM_000350.3(ABCA4):c.5585-70C>T
|
rs537831
|
0.65778
|
NM_000350.3(ABCA4):c.5313-193A>G
|
rs2275034
|
0.60161
|
NM_000350.3(ABCA4):c.4352+168A>G
|
rs4147843
|
0.56299
|
NM_000350.3(ABCA4):c.4540-2169A>G
|
rs3945204
|
0.56197
|
NM_000350.3(ABCA4):c.4128+156C>T
|
rs4147841
|
0.56024
|
NM_000350.3(ABCA4):c.302+26A>G
|
rs2297634
|
0.48752
|
NM_000350.3(ABCA4):c.442+80G>T
|
rs11165073
|
0.48353
|
NM_000350.3(ABCA4):c.5313-283T>G
|
rs3818778
|
0.48248
|
NM_000350.3(ABCA4):c.1240-14C>T
|
rs4147830
|
0.47169
|
NM_000350.3(ABCA4):c.4353-220G>A
|
rs4147846
|
0.46711
|
NM_000350.3(ABCA4):c.4353-300C>T
|
rs4147844
|
0.42281
|
NM_000350.3(ABCA4):c.4353-230G>A
|
rs4147845
|
0.41894
|
NM_000350.3(ABCA4):c.2744-244G>A
|
rs544830
|
0.41858
|
NM_000350.3(ABCA4):c.66+208G>A
|
rs3789451
|
0.41216
|
NM_000350.3(ABCA4):c.5460+62G>A
|
rs2275033
|
0.40111
|
NM_000350.3(ABCA4):c.570+80T>C
|
rs4847278
|
0.36670
|
NM_000350.3(ABCA4):c.2653+204T>G
|
rs1191231
|
0.35972
|
NM_000350.3(ABCA4):c.3051-195C>A
|
rs4147839
|
0.31799
|
NM_000350.3(ABCA4):c.5197-186T>C
|
rs915201
|
0.31452
|
NM_000350.3(ABCA4):c.768+434A>G
|
rs12088309
|
0.31451
|
NM_000350.3(ABCA4):c.5312+304A>G
|
rs914957
|
0.31407
|
NM_000350.3(ABCA4):c.443-124A>G
|
rs2297636
|
0.30085
|
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=)
|
rs1801555
|
0.27862
|
NM_000350.3(ABCA4):c.1100-143G>A
|
rs2275035
|
0.27633
|
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg)
|
rs3112831
|
0.25928
|
NM_000350.3(ABCA4):c.6816+127C>T
|
rs4147872
|
0.25443
|
NM_000350.3(ABCA4):c.769-264T>C
|
rs572960
|
0.24162
|
NM_000350.3(ABCA4):c.769-32T>C
|
rs526016
|
0.24162
|
NM_000350.3(ABCA4):c.5312+227T>C
|
rs914958
|
0.23862
|
NM_000350.3(ABCA4):c.5312+290_5312+291insT
|
rs4147895
|
0.23836
|
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)
|
rs1801574
|
0.23813
|
NM_000350.3(ABCA4):c.5714+152del
|
rs112614086
|
0.23806
|
NM_000350.3(ABCA4):c.5714+321G>A
|
rs2065712
|
0.23789
|
NM_000350.3(ABCA4):c.5461-337G>A
|
rs2893264
|
0.23768
|
NM_000350.3(ABCA4):c.5584+123G>A
|
rs2065711
|
0.23742
|
NM_000350.3(ABCA4):c.1761-54G>A
|
rs4147833
|
0.23727
|
NM_000350.3(ABCA4):c.5461-51del
|
rs4147899
|
0.23674
|
NM_000350.3(ABCA4):c.160+212G>T
|
rs7524869
|
0.22817
|
NM_000350.3(ABCA4):c.161-288G>A
|
rs1889404
|
0.20570
|
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)
|
rs4147857
|
0.20473
|
NM_000350.3(ABCA4):c.5715-25A>C
|
rs4147856
|
0.20432
|
NM_000350.3(ABCA4):c.5836-11G>A
|
rs1800739
|
0.20309
|
NM_000350.3(ABCA4):c.5836-43C>A
|
rs2275031
|
0.19847
|
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)
|
rs2275029
|
0.19626
|
NM_000350.3(ABCA4):c.5898+234G>A
|
rs3789385
|
0.19599
|
NM_000350.3(ABCA4):c.5898+186T>C
|
rs3789386
|
0.19581
|
NM_000350.3(ABCA4):c.5835+122T>G
|
rs2275032
|
0.19529
|
NM_000350.3(ABCA4):c.5899-183G>A
|
rs3789384
|
0.19516
|
NM_000350.3(ABCA4):c.6005+281C>T
|
rs7531001
|
0.19503
|
NM_000350.3(ABCA4):c.6005+328A>G
|
rs4147858
|
0.19392
|
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile)
|
rs6666652
|
0.17582
|
NM_000350.3(ABCA4):c.302+330T>C
|
rs4147810
|
0.16066
|
NM_000350.3(ABCA4):c.442+213T>C
|
rs12093963
|
0.15909
|
NM_000350.3(ABCA4):c.302+101C>T
|
rs2297635
|
0.15778
|
NM_000350.3(ABCA4):c.161-327C>A
|
rs3789438
|
0.15225
|
NM_000350.3(ABCA4):c.6730-3T>C
|
rs1800717
|
0.15096
|
NM_000350.3(ABCA4):c.6816+28G>C
|
rs6666559
|
0.15041
|
NM_000350.3(ABCA4):c.5019-285A>G
|
rs56031604
|
0.14334
|
NM_000350.3(ABCA4):c.6148-686G>A
|
rs74102057
|
0.13430
|
NM_000350.3(ABCA4):c.6148-492T>C
|
rs11804211
|
0.13338
|
NM_000350.3(ABCA4):c.6148-655T>C
|
rs11804569
|
0.13336
|
NM_000350.3(ABCA4):c.6148-215G>A
|
rs17110768
|
0.13322
|
NM_000350.3(ABCA4):c.6148-809C>T
|
rs74102061
|
0.13322
|
NM_000350.3(ABCA4):c.6148-745A>G
|
rs74102058
|
0.13320
|
NM_000350.3(ABCA4):c.6148-297C>T
|
rs11805627
|
0.13318
|
NM_000350.3(ABCA4):c.6479+269G>A
|
rs4147867
|
0.13316
|
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)
|
rs1801359
|
0.13311
|
NM_000350.3(ABCA4):c.6148-184A>T
|
rs74102054
|
0.13310
|
NM_000350.3(ABCA4):c.6148-794C>T
|
rs74102060
|
0.13310
|
NM_000350.3(ABCA4):c.6479+283T>C
|
rs12070278
|
0.13308
|
NM_000350.3(ABCA4):c.6282+7G>A
|
rs17110761
|
0.13306
|
NM_000350.3(ABCA4):c.6480-102A>G
|
rs10874826
|
0.13305
|
NM_000350.3(ABCA4):c.6480-101G>A
|
rs10874825
|
0.13304
|
NM_000350.3(ABCA4):c.6148-777T>C
|
rs74102059
|
0.13296
|
NM_000350.3(ABCA4):c.6729+312C>T
|
rs17110743
|
0.12822
|
NM_000350.3(ABCA4):c.5715-300T>C
|
rs55694362
|
0.11743
|
NM_000350.3(ABCA4):c.5715-220C>G
|
rs56166161
|
0.11697
|
NM_000350.3(ABCA4):c.66+81A>G
|
rs74102103
|
0.11519
|
NM_000350.3(ABCA4):c.4128+201C>T
|
rs7543524
|
0.11502
|
NM_000350.3(ABCA4):c.5585-120G>A
|
rs7519657
|
0.10817
|
NM_000350.3(ABCA4):c.5019-176T>C
|
rs17110850
|
0.10675
|
NM_000350.3(ABCA4):c.4253+106A>G
|
rs56253197
|
0.10498
|
NM_000350.3(ABCA4):c.6147+219T>A
|
rs72956573
|
0.10128
|
NM_000350.3(ABCA4):c.6729+51C>G
|
rs7518454
|
0.09936
|
NM_000350.3(ABCA4):c.1269C>T (p.His423=)
|
rs4147831
|
0.09402
|
NM_000350.3(ABCA4):c.6147+187G>C
|
rs7533425
|
0.09227
|
NM_000350.3(ABCA4):c.570+1887C>T
|
rs72725196
|
0.08930
|
NM_000350.3(ABCA4):c.4539+1770C>A
|
rs17110885
|
0.08679
|
NM_000350.3(ABCA4):c.*372A>G
|
rs3747961
|
0.07805
|
NM_000350.3(ABCA4):c.6282+176C>T
|
rs4147864
|
0.07634
|
NM_000350.3(ABCA4):c.6817-202T>A
|
rs17110718
|
0.06805
|
NM_000350.3(ABCA4):c.5313-109A>G
|
rs56307710
|
0.06488
|
NM_000350.3(ABCA4):c.2918+115C>T
|
rs17392369
|
0.06397
|
NM_000350.3(ABCA4):c.2160+49T>C
|
rs56197337
|
0.05471
|
NM_000350.3(ABCA4):c.571-1949A>C
|
rs3789423
|
0.05330
|
NM_000350.3(ABCA4):c.570+2008C>T
|
rs3789424
|
0.05323
|
NM_000350.3(ABCA4):c.570+1697del
|
rs3842498
|
0.05214
|
NM_000350.3(ABCA4):c.6006-85G>A
|
rs2275028
|
0.05125
|
NM_000350.3(ABCA4):c.5461-284C>T
|
rs4147855
|
0.05119
|
NM_000350.3(ABCA4):c.2654-47T>C
|
rs12095320
|
0.05113
|
NM_000350.3(ABCA4):c.2161-139T>C
|
rs17110958
|
0.05045
|
NM_000350.3(ABCA4):c.2744-262C>G
|
rs72725166
|
0.05026
|
NM_000350.3(ABCA4):c.5196+1015A>G
|
rs17389488
|
0.04989
|
NM_000350.3(ABCA4):c.635G>A (p.Arg212His)
|
rs6657239
|
0.04939
|
NM_000350.3(ABCA4):c.3862+215G>A
|
rs2001963
|
0.04935
|
NM_000350.3(ABCA4):c.2654-48G>C
|
rs12069723
|
0.04589
|
NM_000350.3(ABCA4):c.67-150G>A
|
rs72960501
|
0.04570
|
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
NM_000350.3(ABCA4):c.66+234A>G
|
rs3789450
|
0.03926
|
NM_000350.3(ABCA4):c.67-141G>A
|
rs74104524
|
0.03834
|
NM_000350.3(ABCA4):c.160+278G>A
|
rs7524782
|
0.03667
|
NC_000001.11:g.94121334C>A
|
rs11806223
|
0.03604
|
NC_000001.11:g.94121288G>A
|
rs11802887
|
0.03601
|
NM_000350.3(ABCA4):c.4254-38G>A
|
rs17110898
|
0.03389
|
NM_000350.3(ABCA4):c.4539+2029C>G
|
rs17110883
|
0.03299
|
NM_000350.3(ABCA4):c.4539+1702A>G
|
rs17110887
|
0.03263
|
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)
|
rs56142141
|
0.03191
|
NM_000350.3(ABCA4):c.2587+216C>A
|
rs56375042
|
0.03127
|
NM_000350.3(ABCA4):c.3050+328A>G
|
rs60221131
|
0.03043
|
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.3329-34A>G
|
rs11810336
|
0.02890
|
NM_000350.3(ABCA4):c.3190+101G>A
|
rs79871431
|
0.02596
|
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)
|
rs77293072
|
0.02574
|
NM_000350.3(ABCA4):c.6817-85C>T
|
rs75999881
|
0.02570
|
NM_000350.3(ABCA4):c.1100-186T>G
|
rs17111014
|
0.02532
|
NM_000350.3(ABCA4):c.1099+123T>C
|
rs6682366
|
0.02525
|
NM_000350.3(ABCA4):c.3050+170T>C
|
rs17110925
|
0.02410
|
NM_000350.3(ABCA4):c.4129-278G>T
|
rs78752241
|
0.02265
|
NM_000350.3(ABCA4):c.3863-87C>A
|
rs6690840
|
0.02185
|
NM_000350.3(ABCA4):c.5197-95T>C
|
rs72958426
|
0.02160
|
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln)
|
rs61750129
|
0.02065
|
NM_000350.3(ABCA4):c.6148-389G>A
|
rs17110776
|
0.02027
|
NM_000350.3(ABCA4):c.5460+222C>G
|
rs72958420
|
0.01956
|
NM_000350.3(ABCA4):c.2744-124G>A
|
rs77305056
|
0.01910
|
NM_000350.3(ABCA4):c.4129-119C>T
|
rs74102090
|
0.01660
|
NM_000350.3(ABCA4):c.4540-2095G>C
|
rs79767440
|
0.01616
|
NM_000350.3(ABCA4):c.*134G>A
|
rs76201551
|
0.01542
|
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=)
|
rs61754034
|
0.01415
|
NM_000350.3(ABCA4):c.141= (p.Pro47=)
|
rs4847281
|
0.01254
|
NM_000350.3(ABCA4):c.1761-50G>A
|
rs61754022
|
0.01220
|
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn)
|
rs1800555
|
0.01028
|
NM_000350.3(ABCA4):c.3051-14T>A
|
rs17110922
|
0.01008
|
NM_000350.3(ABCA4):c.6729+21C>T
|
rs1800699
|
0.00981
|
NM_000350.3(ABCA4):c.570+20C>T
|
rs78637152
|
0.00569
|
NM_000350.3(ABCA4):c.302+20C>T
|
rs61753050
|
0.00508
|
NM_000350.3(ABCA4):c.1761-37G>A
|
rs61754021
|
0.00491
|
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)
|
rs61749417
|
0.00491
|
NM_000350.3(ABCA4):c.*136G>A
|
rs55665437
|
0.00448
|
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.768+62C>T
|
rs17111045
|
0.00354
|
NM_000350.3(ABCA4):c.4352+14C>T
|
rs75359153
|
0.00325
|
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=)
|
rs61754023
|
0.00324
|
NM_000350.3(ABCA4):c.4503G>C (p.Glu1501Asp)
|
rs143272984
|
0.00321
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_000350.3(ABCA4):c.237T>C (p.Asn79=)
|
rs149381884
|
0.00306
|
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.672G>A (p.Thr224=)
|
rs140972064
|
0.00214
|
NM_000350.3(ABCA4):c.5196+1159G>A
|
rs80110715
|
0.00191
|
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)
|
rs61748519
|
0.00185
|
NM_000350.3(ABCA4):c.2588-12C>G
|
rs61751396
|
0.00183
|
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His)
|
rs61752395
|
0.00176
|
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)
|
rs61754030
|
0.00174
|
NM_000350.3(ABCA4):c.4253+13G>A
|
rs145766145
|
0.00168
|
NM_000350.3(ABCA4):c.-92C>T
|
rs200102393
|
0.00161
|
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met)
|
rs1800549
|
0.00160
|
NM_000350.3(ABCA4):c.4128+11C>T
|
rs202102586
|
0.00148
|
NM_000350.3(ABCA4):c.3191-20C>T
|
rs61754036
|
0.00130
|
NM_000350.3(ABCA4):c.3328+18G>A
|
rs187354107
|
0.00129
|
NM_000350.3(ABCA4):c.-34C>T
|
rs375186173
|
0.00112
|
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=)
|
rs141004967
|
0.00112
|
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)
|
rs201150919
|
0.00100
|
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.5307G>C (p.Leu1769=)
|
rs146443426
|
0.00079
|
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=)
|
rs117400594
|
0.00078
|
NM_000350.3(ABCA4):c.-94G>T
|
rs113514871
|
0.00076
|
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)
|
rs61753019
|
0.00076
|
NM_000350.3(ABCA4):c.3297A>C (p.Ser1099=)
|
rs148917659
|
0.00073
|
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys)
|
rs75267647
|
0.00066
|
NM_000350.3(ABCA4):c.1356+11_1356+12insG
|
rs1557794244
|
0.00065
|
NM_000350.3(ABCA4):c.3050+16A>G
|
rs111546154
|
0.00055
|
NM_000350.3(ABCA4):c.981C>T (p.Pro327=)
|
rs61753057
|
0.00054
|
NM_000350.3(ABCA4):c.6730-19G>A
|
rs375179475
|
0.00052
|
NM_000350.3(ABCA4):c.5196+20G>A
|
rs55715124
|
0.00045
|
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His)
|
rs140482171
|
0.00037
|
NM_000350.3(ABCA4):c.1692A>G (p.Pro564=)
|
rs143263315
|
0.00037
|
NM_000350.3(ABCA4):c.2744-5C>T
|
rs76305791
|
0.00028
|
NM_000350.3(ABCA4):c.2383-13C>T
|
rs56026711
|
0.00026
|
NM_000350.3(ABCA4):c.4128+16G>A
|
rs61783968
|
0.00018
|
NM_000350.3(ABCA4):c.3213G>A (p.Ser1071=)
|
rs141233353
|
0.00016
|
NM_000350.3(ABCA4):c.5312+8G>A
|
rs187953772
|
0.00016
|
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)
|
rs201602424
|
0.00014
|
NM_000350.3(ABCA4):c.2496C>T (p.Asp832=)
|
rs142186046
|
0.00011
|
NM_000350.3(ABCA4):c.4125G>A (p.Ala1375=)
|
rs776180321
|
0.00009
|
NM_000350.3(ABCA4):c.1818C>T (p.Gly606=)
|
rs377164833
|
0.00006
|
NM_000350.3(ABCA4):c.2646C>T (p.Gly882=)
|
rs180921875
|
0.00006
|
NM_000350.3(ABCA4):c.5241C>T (p.Ile1747=)
|
rs548431469
|
0.00004
|
NM_000350.3(ABCA4):c.933C>T (p.Thr311=)
|
rs61753056
|
0.00003
|
NM_000350.3(ABCA4):c.3867C>T (p.Gly1289=)
|
rs573418899
|
0.00002
|
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr)
|
rs142673376
|
0.00002
|
NM_000350.3(ABCA4):c.1365G>A (p.Leu455=)
|
rs759398868
|
0.00001
|
NM_000350.3(ABCA4):c.2884C>T (p.Leu962=)
|
rs774598114
|
0.00001
|
NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=)
|
rs750526487
|
0.00001
|
NM_000350.3(ABCA4):c.6495T>C (p.Tyr2165=)
|
rs200106061
|
0.00001
|
NM_000350.3(ABCA4):c.769-3C>T
|
rs368010652
|
0.00001
|
NM_000350.3(ABCA4):c.873G>A (p.Pro291=)
|
rs61753054
|
0.00001
|
NM_000350.2:c.+10C>A
|
|
|
NM_000350.3(ABCA4):c.-41G>T
|
rs61784004
|
|
NM_000350.3(ABCA4):c.1100-14T>C
|
rs61753059
|
|
NM_000350.3(ABCA4):c.1239+49TG[13]
|
rs4147886
|
|
NM_000350.3(ABCA4):c.1240-65del
|
rs3215952
|
|
NM_000350.3(ABCA4):c.1248A>C (p.Ser416=)
|
rs61753960
|
|
NM_000350.3(ABCA4):c.1356+3_1356+4insG
|
rs2101102814
|
|
NM_000350.3(ABCA4):c.1356+5_1356+6insC
|
rs1553193877
|
|
NM_000350.3(ABCA4):c.1356+5dup
|
rs281865386
|
|
NM_000350.3(ABCA4):c.1356+6_1356+7insC
|
rs886046568
|
|
NM_000350.3(ABCA4):c.1554+19del
|
|
|
NM_000350.3(ABCA4):c.161-275G>A
|
rs1889405
|
|
NM_000350.3(ABCA4):c.229G>A (p.Val77Met)
|
rs1662603511
|
|
NM_000350.3(ABCA4):c.234C>T (p.Asn78=)
|
rs61753049
|
|
NM_000350.3(ABCA4):c.2588-3del
|
|
|
NM_000350.3(ABCA4):c.2744-9del
|
|
|
NM_000350.3(ABCA4):c.2744-9dup
|
rs763016325
|
|
NM_000350.3(ABCA4):c.303-71del
|
rs4147877
|
|
NM_000350.3(ABCA4):c.3051-15G>T
|
rs200223777
|
|
NM_000350.3(ABCA4):c.3051-304dup
|
rs4147890
|
|
NM_000350.3(ABCA4):c.3329-112del
|
rs4147891
|
|
NM_000350.3(ABCA4):c.3522+10T>G
|
rs763137165
|
|
NM_000350.3(ABCA4):c.384G>A (p.Glu128=)
|
rs2101155846
|
|
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=)
|
rs1801666
|
|
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=)
|
rs1801666
|
|
NM_000350.3(ABCA4):c.4254-171C>T
|
rs2297671
|
|
NM_000350.3(ABCA4):c.4352+32A>G
|
rs75424561
|
|
NM_000350.3(ABCA4):c.4352+54A>G
|
rs547806
|
|
NM_000350.3(ABCA4):c.443-241del
|
rs4147878
|
|
NM_000350.3(ABCA4):c.443-244C>G
|
rs58269697
|
|
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)
|
rs138475920
|
|
NM_000350.3(ABCA4):c.4668-15C>T
|
rs61754054
|
|
NM_000350.3(ABCA4):c.468C>T (p.Ile156=)
|
rs148091207
|
|
NM_000350.3(ABCA4):c.5196+1078del
|
rs3838275
|
|
NM_000350.3(ABCA4):c.5196+1364GT[6]
|
rs3838274
|
|
NM_000350.3(ABCA4):c.5460+168_5460+179del
|
rs143222183
|
|
NM_000350.3(ABCA4):c.5461-291A>C
|
rs565155
|
|
NM_000350.3(ABCA4):c.5461-50dup
|
rs281865391
|
|
NM_000350.3(ABCA4):c.5640T>A (p.Phe1880Leu)
|
rs374811709
|
|
NM_000350.3(ABCA4):c.5680C>T (p.Leu1894=)
|
rs1357586196
|
|
NM_000350.3(ABCA4):c.5843_5844inv (p.Pro1948Leu)
|
|
|
NM_000350.3(ABCA4):c.6005+156_6005+160del
|
rs3831252
|
|
NM_000350.3(ABCA4):c.6005+330del
|
rs3838272
|
|
NM_000350.3(ABCA4):c.6006-16G>A
|
rs4147863
|
|
NM_000350.3(ABCA4):c.6006-8del
|
|
|
NM_000350.3(ABCA4):c.6147+8del
|
|
|
NM_000350.3(ABCA4):c.6148-242C>G
|
rs11805625
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
NM_000350.3(ABCA4):c.6282+193C>T
|
rs4147865
|
|
NM_000350.3(ABCA4):c.6283-347G>A
|
rs12086793
|
|
NM_000350.3(ABCA4):c.6283-3del
|
|
|
NM_000350.3(ABCA4):c.6479+238A>G
|
rs4147866
|
|
NM_000350.3(ABCA4):c.6480-129G>C
|
rs10874827
|
|
NM_000350.3(ABCA4):c.67-11T>G
|
rs1662657188
|
|
NM_000350.3(ABCA4):c.67-5del
|
|
|
NM_000350.3(ABCA4):c.6730-27C>G
|
rs61748522
|
|
NM_000350.3(ABCA4):c.729T>C (p.Thr243=)
|
rs2101135548
|
|
NM_000350.3(ABCA4):c.768+12dup
|
|
|
NM_000350.3(ABCA4):c.859-11C>T
|
rs61753053
|
|