NM_000064.4(C3):c.1686+78C>T
|
rs189367
|
0.99827
|
NM_000350.3(ABCA4):c.141A>G (p.Pro47=)
|
rs4847281
|
0.98746
|
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp)
|
rs6471482
|
0.88912
|
NM_000064.4(C3):c.3646+98A>G
|
rs237554
|
0.87336
|
NM_000064.4(C3):c.4546+58A>G
|
rs344555
|
0.80027
|
NM_001319074.4(RAX2):c.*866C>T
|
rs917545
|
0.78969
|
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)
|
rs1762114
|
0.78856
|
NM_000064.4(C3):c.2864-20A>G
|
rs2287847
|
0.76762
|
NM_000064.4(C3):c.2745T>C (p.Ala915=)
|
rs423490
|
0.76736
|
NM_000064.4(C3):c.2246-8C>T
|
rs406514
|
0.76696
|
NM_006329.4(FBLN5):c.945T>C (p.Ile315=)
|
rs2430347
|
0.76291
|
NM_000064.4(C3):c.2950+48T>C
|
rs2287848
|
0.70105
|
NM_000064.4(C3):c.2863+47G>C
|
rs2287846
|
0.67951
|
NM_000064.4(C3):c.2797-21C>A
|
rs2355315
|
0.67336
|
NM_000350.3(ABCA4):c.5585-70C>T
|
rs537831
|
0.65778
|
NM_000064.4(C3):c.2863+7C>T
|
rs2287845
|
0.65549
|
NM_000064.4(C3):c.2421G>C (p.Val807=)
|
rs428453
|
0.65502
|
NM_000064.4(C3):c.2355-23A>G
|
rs432823
|
0.65496
|
NM_000064.4(C3):c.2440+96T>C
|
rs433594
|
0.65473
|
NM_000064.4(C3):c.2797-29C>T
|
rs2253756
|
0.65339
|
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro)
|
rs4961206
|
0.64246
|
NM_031935.3(HMCN1):c.11684-13G>A
|
rs10157742
|
0.64202
|
NM_000186.4(CFH):c.1204C>T (p.His402Tyr)
|
rs1061170
|
0.63625
|
NM_031935.3(HMCN1):c.8885-7A>G
|
rs6425017
|
0.63553
|
NM_031935.3(HMCN1):c.7371C>T (p.Cys2457=)
|
rs7522627
|
0.63057
|
NM_000350.3(ABCA4):c.4773+48C>T
|
rs472908
|
0.62724
|
NM_000186.4(CFH):c.921A>C (p.Ala307=)
|
rs1061147
|
0.61990
|
NM_019098.4(CNGB3):c.*1639C>A
|
rs990192
|
0.58635
|
NM_031935.3(HMCN1):c.8678A>G (p.Glu2893Gly)
|
rs10798035
|
0.56453
|
NM_000350.3(ABCA4):c.4128+156C>T
|
rs4147841
|
0.56024
|
NM_000186.4(CFH):c.2237-543=
|
rs1410996
|
0.54454
|
NM_031935.3(HMCN1):c.7253T>C (p.Ile2418Thr)
|
rs12129650
|
0.53397
|
NM_006017.3(PROM1):c.*1078A>G
|
rs3130
|
0.53265
|
NM_031935.3(HMCN1):c.12230-7A>C
|
rs2057388
|
0.52362
|
NM_000064.4(C3):c.4457-56A>G
|
rs2277983
|
0.50710
|
NM_000064.4(C3):c.4896C>T (p.Pro1632=)
|
rs17030
|
0.50596
|
NM_000064.4(C3):c.4457-4G>A
|
rs2277984
|
0.49417
|
NM_000350.3(ABCA4):c.302+26A>G
|
rs2297634
|
0.48752
|
NM_000350.3(ABCA4):c.1240-14C>T
|
rs4147830
|
0.47169
|
NM_000186.4(CFH):c.1419G>A (p.Ala473=)
|
rs2274700
|
0.43407
|
NM_000186.4(CFH):c.59-36C>T
|
rs551397
|
0.40527
|
NM_000186.4(CFH):c.184G>A (p.Val62Ile)
|
rs800292
|
0.40446
|
NM_006017.3(PROM1):c.303+6G>A
|
rs2078622
|
0.39397
|
NM_031935.3(HMCN1):c.13310A>G (p.Gln4437Arg)
|
rs10911825
|
0.39391
|
NC_000016.10:g.89917680_89917681del
|
rs3212351
|
0.37647
|
NM_000064.4(C3):c.1692G>A (p.Val564=)
|
rs2230204
|
0.36996
|
NM_000186.4(CFH):c.1204= (p.His402=)
|
rs1061170
|
0.36375
|
NM_031935.3(HMCN1):c.4857T>C (p.His1619=)
|
rs6665753
|
0.35166
|
NM_006017.3(PROM1):c.2374-6T>C
|
rs6449209
|
0.34571
|
NM_006329.4(FBLN5):c.-414C>T
|
rs7149187
|
0.26340
|
NM_001319074.4(RAX2):c.*1366C>G
|
rs6510769
|
0.25783
|
NM_031935.3(HMCN1):c.*674C>T
|
rs1056456
|
0.24195
|
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)
|
rs1801574
|
0.23813
|
NM_001099667.3(ARMS2):c.205G>T (p.Ala69Ser)
|
rs10490924
|
0.22973
|
NM_002775.4(HTRA1):c.-625G>A
|
rs11200638
|
0.22958
|
NM_006017.3(PROM1):c.2582+43C>T
|
rs11725522
|
0.22440
|
NM_006017.3(PROM1):c.*667A>C
|
rs2240688
|
0.21643
|
NM_001319074.4(RAX2):c.*785G>A
|
rs917546
|
0.20551
|
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)
|
rs4147857
|
0.20473
|
NM_000350.3(ABCA4):c.5715-25A>C
|
rs4147856
|
0.20432
|
NM_006017.3(PROM1):c.2281-6C>G
|
rs3815344
|
0.20394
|
NM_000350.3(ABCA4):c.5836-11G>A
|
rs1800739
|
0.20309
|
NM_000099.4(CST3):c.73G>A (p.Ala25Thr)
|
rs1064039
|
0.20062
|
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.6764G>T (p.Ser2255Ile)
|
rs6666652
|
0.17582
|
NM_001710.5(CFB):c.94C>T (p.Arg32Trp)
|
rs12614
|
0.17324
|
NM_031935.3(HMCN1):c.3166A>G (p.Thr1056Ala)
|
rs7539719
|
0.16805
|
NM_001319074.4(RAX2):c.*720G>A
|
rs917547
|
0.16734
|
NM_000064.4(C3):c.912G>A (p.Arg304=)
|
rs2230201
|
0.15982
|
NM_001319074.4(RAX2):c.*1149C>T
|
rs1860322
|
0.15969
|
NM_022726.4(ELOVL4):c.895A>G (p.Met299Val)
|
rs3812153
|
0.15428
|
NM_022726.4(ELOVL4):c.*142G>C
|
rs1512118
|
0.15383
|
NM_022726.4(ELOVL4):c.*667T>C
|
rs16891260
|
0.15372
|
NM_001319074.4(RAX2):c.217-8C>T
|
rs79588413
|
0.15214
|
NM_000350.3(ABCA4):c.6730-3T>C
|
rs1800717
|
0.15096
|
NM_022726.4(ELOVL4):c.-236C>T
|
rs240307
|
0.14804
|
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp)
|
rs1065489
|
0.14779
|
NM_000186.4(CFH):c.2016A>G (p.Gln672=)
|
rs3753396
|
0.14639
|
NM_022726.4(ELOVL4):c.*1669T>G
|
rs2991
|
0.14296
|
NM_000064.4(C3):c.304C>G (p.Arg102Gly)
|
rs2230199
|
0.14228
|
NM_000064.4(C3):c.1836G>A (p.Thr612=)
|
rs2230205
|
0.13947
|
NM_000064.4(C3):c.941C>T (p.Pro314Leu)
|
rs1047286
|
0.13563
|
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)
|
rs1801359
|
0.13311
|
NM_000350.3(ABCA4):c.6282+7G>A
|
rs17110761
|
0.13306
|
NM_001099667.3(ARMS2):c.112C>T (p.Arg38Ter)
|
rs2736911
|
0.13199
|
NM_001099667.3(ARMS2):c.*374G>T
|
rs566108895
|
0.13070
|
NM_031935.3(HMCN1):c.14266+17G>C
|
rs17531405
|
0.12803
|
NM_000063.6(C2):c.1023G>A (p.Ala341=)
|
rs1042663
|
0.11857
|
NM_000063.6(C2):c.1360+62G>T
|
rs547154
|
0.11826
|
NM_001710.5(CFB):c.95G>A (p.Arg32Gln)
|
rs641153
|
0.11820
|
NM_001099667.3(ARMS2):c.*376T>C
|
rs2672602
|
0.11668
|
NM_001099667.3(ARMS2):c.*385A>C
|
rs2672603
|
0.11652
|
NM_000064.4(C3):c.3391-4T>C
|
rs11569510
|
0.10612
|
NM_000064.4(C3):c.3391-6T>C
|
rs11569509
|
0.10608
|
NM_000064.4(C3):c.3391-8T>C
|
rs11569508
|
0.10606
|
NM_019098.4(CNGB3):c.*1638G>A
|
rs28471019
|
0.09998
|
NM_006017.3(PROM1):c.1003-35A>C
|
rs2286458
|
0.09908
|
NM_001099667.3(ARMS2):c.*373T>G
|
rs4752698
|
0.09758
|
NM_006017.3(PROM1):c.786G>A (p.Ala262=)
|
rs2286455
|
0.09727
|
NM_001099667.3(ARMS2):c.8G>A (p.Arg3His)
|
rs10490923
|
0.09089
|
NM_006017.3(PROM1):c.129C>T (p.Thr43=)
|
rs10033086
|
0.09038
|
NM_031935.3(HMCN1):c.15260A>T (p.Asp5087Val)
|
rs41317507
|
0.08845
|
NM_000186.4(CFH):c.*178T>A
|
rs488738
|
0.08528
|
NM_000064.4(C3):c.4311C>T (p.Ala1437=)
|
rs7951
|
0.08524
|
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu)
|
rs534399
|
0.08522
|
NM_019098.5(CNGB3):c.2264A>G (p.Glu755Gly)
|
rs3735972
|
0.08214
|
NM_019098.5(CNGB3):c.2214A>G (p.Glu738=)
|
rs3735970
|
0.08211
|
NM_000064.4(C3):c.4631-8C>T
|
rs11569565
|
0.06993
|
NM_031935.3(HMCN1):c.14158G>A (p.Ala4720Thr)
|
rs6693069
|
0.06856
|
NM_001319074.4(RAX2):c.*680G>A
|
rs28673245
|
0.06699
|
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile)
|
rs515299
|
0.06393
|
NM_006017.3(PROM1):c.15C>T (p.Leu5=)
|
rs10033189
|
0.06194
|
NM_019098.5(CNGB3):c.919A>G (p.Ile307Val)
|
rs13265557
|
0.05793
|
NM_019098.5(CNGB3):c.1356G>A (p.Gln452=)
|
rs34839859
|
0.05572
|
NM_000063.6(C2):c.1902+6G>C
|
rs9332730
|
0.05089
|
NM_019098.5(CNGB3):c.608G>A (p.Arg203Gln)
|
rs16916632
|
0.05057
|
NM_019098.5(CNGB3):c.1781+10A>T
|
rs7000747
|
0.05032
|
NM_000064.4(C3):c.2715C>T (p.Thr905=)
|
rs2230208
|
0.04973
|
NM_000064.4(C3):c.2430G>A (p.Ser810=)
|
rs2230207
|
0.04934
|
NM_019098.5(CNGB3):c.211+13T>G
|
rs66881636
|
0.04794
|
NM_000186.3(CFH):c.-195T>C
|
rs35836460
|
0.04685
|
NM_006017.3(PROM1):c.1983+14G>A
|
rs4698436
|
0.04259
|
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
NM_031935.3(HMCN1):c.9516A>T (p.Thr3172=)
|
rs61745374
|
0.04046
|
NM_000186.4(CFH):c.1160-15T>C
|
rs34815383
|
0.03666
|
NM_006017.3(PROM1):c.228G>A (p.Leu76=)
|
rs76963591
|
0.03578
|
NM_006017.3(PROM1):c.1768-5C>T
|
rs55708318
|
0.03551
|
NM_022726.4(ELOVL4):c.*361C>T
|
rs41270557
|
0.03380
|
NM_022726.4(ELOVL4):c.*609G>A
|
rs41270555
|
0.03374
|
NM_022726.4(ELOVL4):c.*1066T>G
|
rs45594338
|
0.03371
|
NM_001710.6(CFB):c.26T>A (p.Leu9His)
|
rs4151667
|
0.03314
|
NM_031935.3(HMCN1):c.2739G>C (p.Leu913=)
|
rs35576281
|
0.03312
|
NM_000063.6(C2):c.954G>C (p.Glu318Asp)
|
rs9332739
|
0.03307
|
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)
|
rs56142141
|
0.03191
|
NM_031935.3(HMCN1):c.8166T>C (p.Asn2722=)
|
rs77026548
|
0.03129
|
NM_031935.3(HMCN1):c.3020A>T (p.Asn1007Ile)
|
rs34460141
|
0.03127
|
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_031935.3(HMCN1):c.*937A>G
|
rs41317509
|
0.02893
|
NM_031935.3(HMCN1):c.4439C>T (p.Thr1480Ile)
|
rs58293393
|
0.02671
|
NM_022726.4(ELOVL4):c.*1551A>G
|
rs55808788
|
0.02617
|
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)
|
rs77293072
|
0.02574
|
NM_031935.3(HMCN1):c.11849-8A>C
|
rs78780269
|
0.02456
|
NM_001319074.4(RAX2):c.*902G>T
|
rs10405125
|
0.02418
|
NM_000186.3(CFH):c.-79A>G
|
rs35906110
|
0.02400
|
NM_031935.3(HMCN1):c.3861A>G (p.Pro1287=)
|
rs74134272
|
0.02399
|
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr)
|
rs35343172
|
0.02118
|
NM_006329.4(FBLN5):c.*623A>T
|
rs77357345
|
0.02046
|
NM_021023.6(CFHR3):c.424C>T (p.Arg142Cys)
|
rs61737525
|
0.02034
|
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr)
|
rs35274867
|
0.01982
|
NM_019098.5(CNGB3):c.*778T>C
|
rs16915859
|
0.01933
|
NM_019098.5(CNGB3):c.*389A>C
|
rs16915861
|
0.01929
|
NM_019098.5(CNGB3):c.595G>A (p.Glu199Lys)
|
rs114305748
|
0.01886
|
NM_000186.4(CFH):c.*98C>T
|
rs35742764
|
0.01872
|
NM_006017.3(PROM1):c.631-14T>C
|
rs16892824
|
0.01810
|
NM_019098.5(CNGB3):c.80A>G (p.Asn27Ser)
|
rs35807406
|
0.01728
|
NM_031935.3(HMCN1):c.57C>T (p.Ser19=)
|
rs114170176
|
0.01714
|
NM_006329.4(FBLN5):c.*514A>G
|
rs17804735
|
0.01698
|
NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=)
|
rs145515678
|
0.01635
|
NM_000186.4(CFH):c.1652T>C (p.Ile551Thr)
|
rs35453854
|
0.01591
|
NM_000186.4(CFH):c.477T>C (p.Ser159=)
|
rs34940854
|
0.01586
|
NM_000063.6(C2):c.1922T>C (p.Val641Ala)
|
rs36221133
|
0.01554
|
NM_000186.4(CFH):c.245-7G>A
|
rs35814900
|
0.01519
|
NM_001319074.4(RAX2):c.155C>T (p.Pro52Leu)
|
rs76076446
|
0.01485
|
NM_031935.3(HMCN1):c.6981G>A (p.Met2327Ile)
|
rs12067376
|
0.01472
|
NM_031935.3(HMCN1):c.13968C>T (p.Ser4656=)
|
rs3737942
|
0.01470
|
NM_000186.4(CFH):c.1428A>G (p.Gln476=)
|
rs34399588
|
0.01440
|
NM_000186.4(CFH):c.2236+8T>A
|
rs7537967
|
0.01429
|
NM_031935.3(HMCN1):c.4269A>G (p.Pro1423=)
|
rs12087462
|
0.01418
|
NM_006329.4(FBLN5):c.989+13G>A
|
rs74071605
|
0.01368
|
NM_031935.3(HMCN1):c.12987C>T (p.Thr4329=)
|
rs41317491
|
0.01364
|
NM_000064.4(C3):c.1407G>C (p.Glu469Asp)
|
rs11569422
|
0.01362
|
NM_001319074.4(RAX2):c.*647T>C
|
rs112369501
|
0.01352
|
NM_031935.3(HMCN1):c.10536T>C (p.Ala3512=)
|
rs72720910
|
0.01345
|
NM_006329.4(FBLN5):c.863-13C>T
|
rs74071606
|
0.01336
|
NM_001319074.4(RAX2):c.*381A>G
|
rs73531473
|
0.01319
|
NM_031935.3(HMCN1):c.13055A>G (p.Lys4352Arg)
|
rs78541701
|
0.01250
|
NM_031935.3(HMCN1):c.13313-4G>A
|
rs41317497
|
0.01218
|
NM_031935.3(HMCN1):c.15531T>C (p.Cys5177=)
|
rs16824983
|
0.01216
|
NM_006329.4(FBLN5):c.*326G>A
|
rs79375113
|
0.01197
|
NM_006329.4(FBLN5):c.*329T>C
|
rs115237925
|
0.01197
|
NM_031935.3(HMCN1):c.3550G>T (p.Val1184Phe)
|
rs12239296
|
0.01178
|
NM_000064.4(C3):c.783C>T (p.Tyr261=)
|
rs2230200
|
0.01155
|
NM_031935.3(HMCN1):c.6908T>C (p.Ile2303Thr)
|
rs149550536
|
0.01074
|
NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala)
|
rs79183244
|
0.01053
|
NM_000064.4(C3):c.741C>T (p.Asn247=)
|
rs11569571
|
0.01041
|
NM_019098.5(CNGB3):c.354G>T (p.Pro118=)
|
rs75858066
|
0.01037
|
NM_031935.3(HMCN1):c.7511C>A (p.Thr2504Lys)
|
rs76748242
|
0.01024
|
NM_021023.6(CFHR3):c.720G>C (p.Gln240His)
|
rs149347641
|
0.01005
|
NM_031935.3(HMCN1):c.12250C>T (p.His4084Tyr)
|
rs41317489
|
0.00992
|
NM_031935.3(HMCN1):c.8509C>T (p.Arg2837Trp)
|
rs74136012
|
0.00984
|
NM_000064.4(C3):c.4457-5C>T
|
rs344554
|
0.00979
|
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr)
|
rs35010099
|
0.00978
|
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln)
|
rs148919174
|
0.00936
|
NM_006017.3(PROM1):c.55T>G (p.Ser19Ala)
|
rs189108830
|
0.00928
|
NM_001710.6(CFB):c.1137C>T (p.Arg379=)
|
rs45600936
|
0.00911
|
NM_031935.3(HMCN1):c.15822T>C (p.Asp5274=)
|
rs57832192
|
0.00905
|
NM_031935.3(HMCN1):c.13040-3C>T
|
rs41317493
|
0.00895
|
NM_031935.3(HMCN1):c.9942G>A (p.Thr3314=)
|
rs75687673
|
0.00845
|
NM_000186.4(CFH):c.2634C>T (p.His878=)
|
rs35292876
|
0.00829
|
NM_031935.3(HMCN1):c.9397A>G (p.Ile3133Val)
|
rs79178888
|
0.00827
|
NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys)
|
rs61737523
|
0.00809
|
NM_019098.5(CNGB3):c.1626C>T (p.Ser542=)
|
rs35903042
|
0.00786
|
NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer)
|
rs769938205
|
0.00770
|
NM_000186.4(CFH):c.1159+19T>G
|
rs35695425
|
0.00756
|
NM_000186.4(CFH):c.3102T>C (p.Asn1034=)
|
rs34594237
|
0.00750
|
NM_031935.3(HMCN1):c.*422A>C
|
rs145533442
|
0.00689
|
NM_031935.3(HMCN1):c.4998T>C (p.Ala1666=)
|
rs115874887
|
0.00678
|
NM_031935.3(HMCN1):c.6029-11G>T
|
rs10911802
|
0.00678
|
NM_031935.3(HMCN1):c.6029-4T>C
|
rs10911803
|
0.00676
|
NM_019098.5(CNGB3):c.*621G>A
|
rs116835980
|
0.00669
|
NM_000064.4(C3):c.1976-19C>T
|
rs11569433
|
0.00656
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
NM_031935.3(HMCN1):c.8757T>C (p.His2919=)
|
rs148188970
|
0.00653
|
NM_000064.4(C3):c.1653G>T (p.Val551=)
|
rs344534
|
0.00648
|
NM_031935.3(HMCN1):c.8815G>A (p.Gly2939Ser)
|
rs74967568
|
0.00644
|
NM_022726.4(ELOVL4):c.800T>C (p.Ile267Thr)
|
rs148594713
|
0.00636
|
NM_019098.5(CNGB3):c.212-3T>C
|
rs79126074
|
0.00635
|
NM_006017.3(PROM1):c.1751A>G (p.His584Arg)
|
rs140027620
|
0.00608
|
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp)
|
rs11569534
|
0.00573
|
NM_001171174.1(CX3CR1):c.10C>G (p.Pro4Ala)
|
rs147724093
|
0.00570
|
NM_006017.3(PROM1):c.1911+14G>A
|
rs79077926
|
0.00565
|
NM_031935.3(HMCN1):c.3695C>T (p.Thr1232Met)
|
rs146418772
|
0.00555
|
NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser)
|
rs41317471
|
0.00550
|
NM_006329.4(FBLN5):c.*423T>C
|
rs17731705
|
0.00543
|
NM_006017.3(PROM1):c.1683-3C>T
|
rs143470288
|
0.00518
|
NM_031935.3(HMCN1):c.15732C>G (p.His5244Gln)
|
rs75161007
|
0.00507
|
NM_006017.3(PROM1):c.*684C>T
|
rs140362696
|
0.00496
|
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)
|
rs61749417
|
0.00491
|
NM_000350.3(ABCA4):c.4253+43G>A
|
rs61754045
|
0.00486
|
NM_031935.3(HMCN1):c.8789T>C (p.Ile2930Thr)
|
rs114135070
|
0.00480
|
NM_000063.6(C2):c.2200C>T (p.Arg734Cys)
|
rs4151648
|
0.00474
|
NM_031935.3(HMCN1):c.13950G>C (p.Gln4650His)
|
rs74136049
|
0.00474
|
NM_031935.3(HMCN1):c.15063C>T (p.Tyr5021=)
|
rs114051074
|
0.00463
|
NM_006329.4(FBLN5):c.502+15G>C
|
rs190933127
|
0.00456
|
NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile)
|
rs114629728
|
0.00449
|
NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser)
|
rs114364265
|
0.00448
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=)
|
rs138332626
|
0.00444
|
NM_031935.3(HMCN1):c.11556A>T (p.Ser3852=)
|
rs144346158
|
0.00443
|
NM_031935.3(HMCN1):c.7652T>C (p.Leu2551Ser)
|
rs116300191
|
0.00436
|
NM_001319074.4(RAX2):c.45T>G (p.Gly15=)
|
rs139127905
|
0.00435
|
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile)
|
rs34362004
|
0.00426
|
NM_000186.4(CFH):c.2850G>T (p.Gln950His)
|
rs149474608
|
0.00425
|
NM_001099667.3(ARMS2):c.*45T>G
|
rs150019974
|
0.00424
|
NM_022726.4(ELOVL4):c.*509C>T
|
rs149410136
|
0.00424
|
NM_022726.4(ELOVL4):c.*8T>C
|
rs144822141
|
0.00421
|
NM_000186.4(CFH):c.-36G>C
|
rs140356702
|
0.00418
|
NM_031935.3(HMCN1):c.8094G>A (p.Ala2698=)
|
rs143866315
|
0.00404
|
NM_000064.4(C3):c.588G>A (p.Pro196=)
|
rs150007726
|
0.00403
|
NM_000064.4(C3):c.1119+15G>A
|
rs114252882
|
0.00399
|
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg)
|
rs149101394
|
0.00391
|
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)
|
rs61730509
|
0.00389
|
NM_000064.4(C3):c.3958C>A (p.Arg1320=)
|
rs141718696
|
0.00386
|
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)
|
rs61749435
|
0.00385
|
NM_000063.6(C2):c.443-4G>A
|
rs9332719
|
0.00380
|
NM_031935.3(HMCN1):c.11938G>A (p.Val3980Met)
|
rs139870667
|
0.00379
|
NM_031935.3(HMCN1):c.12571G>A (p.Val4191Ile)
|
rs141096306
|
0.00371
|
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe)
|
rs28938473
|
0.00362
|
NM_031935.3(HMCN1):c.1152A>G (p.Lys384=)
|
rs151284138
|
0.00356
|
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met)
|
rs115246141
|
0.00350
|
NM_031935.3(HMCN1):c.7515G>T (p.Gly2505=)
|
rs41317479
|
0.00347
|
NM_022726.4(ELOVL4):c.-98C>T
|
rs562763990
|
0.00344
|
NM_022726.4(ELOVL4):c.-268T>G
|
rs546271509
|
0.00343
|
NM_000064.4(C3):c.-28C>G
|
rs339394
|
0.00341
|
NM_031935.3(HMCN1):c.114G>T (p.Gly38=)
|
rs115169621
|
0.00337
|
NM_031935.3(HMCN1):c.7494G>A (p.Thr2498=)
|
rs148467349
|
0.00333
|
NM_000350.3(ABCA4):c.1878G>A (p.Ala626=)
|
rs61754023
|
0.00324
|
NM_006329.4(FBLN5):c.620-8T>C
|
rs147699855
|
0.00324
|
NM_031935.3(HMCN1):c.16318G>A (p.Asp5440Asn)
|
rs74136061
|
0.00324
|
NM_006017.3(PROM1):c.1497C>T (p.Ile499=)
|
rs113895168
|
0.00322
|
NM_019098.5(CNGB3):c.*29G>T
|
rs138432513
|
0.00309
|
NM_031935.3(HMCN1):c.11803A>G (p.Ile3935Val)
|
rs114270813
|
0.00309
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_019098.5(CNGB3):c.2420C>G (p.Ala807Gly)
|
rs142846289
|
0.00300
|
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln)
|
rs150418024
|
0.00299
|
NM_031935.3(HMCN1):c.12771T>C (p.His4257=)
|
rs115171363
|
0.00295
|
NM_031935.3(HMCN1):c.785A>G (p.Asn262Ser)
|
rs60502467
|
0.00295
|
NM_001319074.4(RAX2):c.*1324A>G
|
rs138882802
|
0.00293
|
NM_031935.3(HMCN1):c.16623C>G (p.Leu5541=)
|
rs151256828
|
0.00293
|
NM_000064.4(C3):c.600-14C>T
|
rs3745558
|
0.00289
|
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)
|
rs62646862
|
0.00276
|
NM_031935.3(HMCN1):c.6708A>G (p.Pro2236=)
|
rs144191448
|
0.00272
|
NM_000186.4(CFH):c.428-14T>C
|
rs184188486
|
0.00271
|
NM_000186.4(CFH):c.3150T>C (p.Asn1050=)
|
rs113347629
|
0.00269
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_001319074.4(RAX2):c.-270C>T
|
rs776666200
|
0.00265
|
NM_006329.4(FBLN5):c.*647C>T
|
rs10197
|
0.00262
|
NM_000064.4(C3):c.4878T>C (p.Thr1626=)
|
rs1803223
|
0.00261
|
NM_031935.3(HMCN1):c.6287T>A (p.Ile2096Asn)
|
rs114669703
|
0.00259
|
NM_031935.3(HMCN1):c.13313-5C>T
|
rs184095385
|
0.00253
|
NM_000064.4(C3):c.463A>C (p.Lys155Gln)
|
rs147859257
|
0.00250
|
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp)
|
rs35365413
|
0.00248
|
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile)
|
rs145525174
|
0.00246
|
NM_000064.4(C3):c.4631-9C>T
|
rs116302413
|
0.00242
|
NM_006329.4(FBLN5):c.-411A>G
|
rs143296045
|
0.00240
|
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)
|
rs113106943
|
0.00239
|
NM_031935.3(HMCN1):c.10697G>A (p.Gly3566Asp)
|
rs41317483
|
0.00239
|
NM_000064.4(C3):c.2394C>T (p.Ser798=)
|
rs112178657
|
0.00237
|
NM_031935.3(HMCN1):c.4475+9C>A
|
rs111694556
|
0.00229
|
NM_031935.3(HMCN1):c.15256+4A>T
|
rs184102616
|
0.00225
|
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp)
|
rs145529594
|
0.00224
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_006017.3(PROM1):c.1977C>T (p.Asn659=)
|
rs149028760
|
0.00222
|
NM_031935.3(HMCN1):c.5070A>T (p.Ile1690=)
|
rs141581919
|
0.00222
|
NM_000186.4(CFH):c.3207T>C (p.Ser1069=)
|
rs62641697
|
0.00219
|
NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile)
|
rs140493567
|
0.00218
|
NM_000064.4(C3):c.1686+20G>A
|
rs76024222
|
0.00212
|
NM_031935.3(HMCN1):c.4782A>G (p.Ala1594=)
|
rs78613732
|
0.00210
|
NM_001319074.4(RAX2):c.*689C>T
|
rs115071988
|
0.00201
|
NM_006329.4(FBLN5):c.-152C>T
|
rs139387007
|
0.00199
|
NM_006329.4(FBLN5):c.376G>A (p.Val126Met)
|
rs61734479
|
0.00199
|
NM_000064.4(C3):c.2203C>T (p.Arg735Trp)
|
rs117793540
|
0.00198
|
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)
|
rs61749455
|
0.00194
|
NM_006017.3(PROM1):c.-25T>A
|
rs149845694
|
0.00194
|
NM_031935.3(HMCN1):c.16385A>G (p.Gln5462Arg)
|
rs35856562
|
0.00193
|
NM_000064.4(C3):c.2245+15G>A
|
rs11569434
|
0.00192
|
NM_000350.3(ABCA4):c.5196+1159G>A
|
rs80110715
|
0.00191
|
NM_031935.3(HMCN1):c.6063G>A (p.Val2021=)
|
rs144776594
|
0.00191
|
NM_006017.3(PROM1):c.1579-6T>C
|
rs181261277
|
0.00190
|
NM_000064.4(C3):c.2685C>T (p.Ser895=)
|
rs138884408
|
0.00189
|
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_000064.4(C3):c.3216G>T (p.Arg1072=)
|
rs137880434
|
0.00183
|
NM_000350.3(ABCA4):c.2588-12C>G
|
rs61751396
|
0.00183
|
NM_000350.3(ABCA4):c.838A>T (p.Met280Leu)
|
rs138682163
|
0.00183
|
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_019098.5(CNGB3):c.*1459C>T
|
rs192543896
|
0.00178
|
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)
|
rs61754030
|
0.00174
|
NM_022726.4(ELOVL4):c.*1050A>G
|
rs114429396
|
0.00158
|
NM_031935.3(HMCN1):c.8103T>C (p.Ile2701=)
|
rs143271285
|
0.00156
|
NM_000063.6(C2):c.2046A>G (p.Ala682=)
|
rs45507391
|
0.00154
|
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His)
|
rs1800552
|
0.00153
|
NM_006017.3(PROM1):c.1345G>A (p.Val449Met)
|
rs200620291
|
0.00152
|
NM_031935.3(HMCN1):c.16121G>A (p.Arg5374Gln)
|
rs147189545
|
0.00152
|
NM_006017.3(PROM1):c.2211+7C>T
|
rs372262346
|
0.00150
|
NM_000064.4(C3):c.2901C>T (p.Leu967=)
|
rs34029609
|
0.00142
|
NM_006329.4(FBLN5):c.*648G>A
|
rs182435130
|
0.00140
|
NM_031935.3(HMCN1):c.2372-3C>T
|
rs186546131
|
0.00139
|
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)
|
rs58331765
|
0.00136
|
NM_001099667.3(ARMS2):c.*251T>C
|
rs578150200
|
0.00136
|
NM_006329.4(FBLN5):c.714T>A (p.Leu238=)
|
rs141152607
|
0.00134
|
NM_000063.6(C2):c.1778G>A (p.Arg593Gln)
|
rs150878060
|
0.00133
|
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)
|
rs61749440
|
0.00133
|
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)
|
rs1762111
|
0.00132
|
NM_000186.4(CFH):c.2867C>T (p.Thr956Met)
|
rs145975787
|
0.00130
|
NM_000186.4(CFH):c.1707C>T (p.Cys569=)
|
rs144976181
|
0.00129
|
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg)
|
rs182096110
|
0.00128
|
NM_019098.5(CNGB3):c.2159A>G (p.Gln720Arg)
|
rs112573107
|
0.00124
|
NM_019098.4(CNGB3):c.-32T>C
|
rs376141938
|
0.00123
|
NM_019098.5(CNGB3):c.43G>C (p.Gly15Arg)
|
rs150260103
|
0.00122
|
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=)
|
rs145483148
|
0.00120
|
NM_001319074.4(RAX2):c.*45C>T
|
rs139146360
|
0.00120
|
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln)
|
rs147876778
|
0.00119
|
NM_000064.4(C3):c.2067G>A (p.Glu689=)
|
rs147477257
|
0.00118
|
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg)
|
rs2230210
|
0.00118
|
NM_031935.3(HMCN1):c.-151C>A
|
rs143020055
|
0.00118
|
NM_031935.3(HMCN1):c.1480G>A (p.Glu494Lys)
|
rs139490011
|
0.00113
|
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val)
|
rs139520520
|
0.00112
|
NM_031935.3(HMCN1):c.15489C>T (p.Asp5163=)
|
rs142456335
|
0.00112
|
NM_031935.3(HMCN1):c.5356A>G (p.Asn1786Asp)
|
rs147995526
|
0.00111
|
NM_001319074.4(RAX2):c.432G>A (p.Ala144=)
|
rs149918940
|
0.00108
|
NM_031935.3(HMCN1):c.865G>A (p.Val289Met)
|
rs144384070
|
0.00108
|
NM_000063.6(C2):c.1414G>A (p.Ala472Thr)
|
rs142243595
|
0.00105
|
NM_000186.4(CFH):c.1935G>T (p.Thr645=)
|
rs56035657
|
0.00105
|
NM_001319074.4(RAX2):c.282C>T (p.Ala94=)
|
rs201021639
|
0.00102
|
NM_031935.3(HMCN1):c.15393C>T (p.Ser5131=)
|
rs142864872
|
0.00101
|
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)
|
rs201150919
|
0.00100
|
NM_031935.3(HMCN1):c.9546G>A (p.Thr3182=)
|
rs140049629
|
0.00100
|
NM_001319074.4(RAX2):c.*191C>T
|
rs150808899
|
0.00099
|
NM_000350.3(ABCA4):c.1500G>A (p.Arg500=)
|
rs139050119
|
0.00097
|
NM_019098.5(CNGB3):c.*1183T>C
|
rs78927155
|
0.00096
|
NM_022726.4(ELOVL4):c.-103G>C
|
rs530801492
|
0.00096
|
NM_031935.3(HMCN1):c.12080A>G (p.Asn4027Ser)
|
rs144994573
|
0.00096
|
NM_031935.3(HMCN1):c.2212+8T>G
|
rs183165464
|
0.00095
|
NM_031935.3(HMCN1):c.12074G>A (p.Gly4025Asp)
|
rs146671871
|
0.00093
|
NM_022726.4(ELOVL4):c.*40A>C
|
rs185190995
|
0.00091
|
NM_031935.3(HMCN1):c.4515C>G (p.Asp1505Glu)
|
rs146532107
|
0.00091
|
NM_031935.3(HMCN1):c.5851+10del
|
rs375820274
|
0.00091
|
NM_000041.4(APOE):c.651C>T (p.Ala217=)
|
rs72654468
|
0.00090
|
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_006017.3(PROM1):c.714A>G (p.Gly238=)
|
rs201662148
|
0.00088
|
NM_019098.5(CNGB3):c.*125G>C
|
rs186370374
|
0.00087
|
NM_000064.4(C3):c.1344C>T (p.Thr448=)
|
rs150934856
|
0.00086
|
NM_000064.4(C3):c.4172+19G>A
|
rs181489450
|
0.00086
|
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val)
|
rs146062161
|
0.00086
|
NM_000064.4(C3):c.4767G>A (p.Lys1589=)
|
rs144589541
|
0.00083
|
NM_006017.3(PROM1):c.*1149A>G
|
rs543722299
|
0.00083
|
NM_000063.6(C2):c.2171C>T (p.Pro724Leu)
|
rs145050210
|
0.00081
|
NM_031935.3(HMCN1):c.13231-4A>G
|
rs191690433
|
0.00081
|
NM_031935.3(HMCN1):c.15440-13C>T
|
rs12034495
|
0.00081
|
NM_000322.5(PRPH2):c.866C>T (p.Ser289Leu)
|
rs62645939
|
0.00079
|
NM_001099667.3(ARMS2):c.*161C>T
|
rs536799180
|
0.00078
|
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)
|
rs61753019
|
0.00076
|
NM_001319074.4(RAX2):c.*368C>T
|
rs756898228
|
0.00076
|
NM_031935.3(HMCN1):c.13313G>A (p.Ser4438Asn)
|
rs61732179
|
0.00076
|
NM_022726.4(ELOVL4):c.699G>A (p.Thr233=)
|
rs17853840
|
0.00073
|
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe)
|
rs200520976
|
0.00070
|
NM_019098.5(CNGB3):c.913G>A (p.Ala305Thr)
|
rs144637286
|
0.00070
|
NM_031935.3(HMCN1):c.16034A>G (p.Gln5345Arg)
|
rs121434382
|
0.00070
|
NM_031935.3(HMCN1):c.16731T>C (p.Thr5577=)
|
rs146867591
|
0.00070
|
NM_000064.4(C3):c.876+19G>A
|
rs11569574
|
0.00068
|
NM_006017.3(PROM1):c.*189A>G
|
rs537324748
|
0.00068
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly)
|
rs62617075
|
0.00065
|
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala)
|
rs140286824
|
0.00065
|
NM_001099667.3(ARMS2):c.*204C>A
|
rs79134213
|
0.00063
|
NM_031935.3(HMCN1):c.3551T>C (p.Val1184Ala)
|
rs201865736
|
0.00063
|
NM_019098.5(CNGB3):c.494-11T>C
|
rs543970676
|
0.00062
|
NM_001142800.2(EYS):c.1459+5C>T
|
rs200387978
|
0.00061
|
NM_031935.3(HMCN1):c.11011C>G (p.Leu3671Val)
|
rs150618921
|
0.00061
|
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His)
|
rs150188026
|
0.00061
|
NM_031935.3(HMCN1):c.*418A>G
|
rs756210638
|
0.00060
|
NM_031935.3(HMCN1):c.15515G>A (p.Arg5172His)
|
rs147769095
|
0.00060
|
NM_001319074.4(RAX2):c.156G>A (p.Pro52=)
|
rs141804618
|
0.00059
|
NM_000064.4(C3):c.1898A>G (p.Lys633Arg)
|
rs140655115
|
0.00058
|
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly)
|
rs202029748
|
0.00058
|
NM_031935.3(HMCN1):c.*588T>C
|
rs1029168553
|
0.00058
|
NM_019098.5(CNGB3):c.319G>A (p.Gly107Arg)
|
rs146688972
|
0.00057
|
NM_031935.3(HMCN1):c.5888G>T (p.Gly1963Val)
|
rs144649977
|
0.00057
|
NM_031935.3(HMCN1):c.15212T>G (p.Ile5071Arg)
|
rs150734874
|
0.00056
|
NM_000064.4(C3):c.2190C>T (p.Tyr730=)
|
rs142455019
|
0.00055
|
NM_000350.3(ABCA4):c.981C>T (p.Pro327=)
|
rs61753057
|
0.00054
|
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=)
|
rs141934736
|
0.00054
|
NM_000064.4(C3):c.26T>C (p.Leu9Pro)
|
rs138214338
|
0.00053
|
NM_000186.4(CFH):c.245-15T>C
|
rs200079172
|
0.00052
|
NM_019098.5(CNGB3):c.*51C>T
|
rs189210452
|
0.00051
|
NM_022726.4(ELOVL4):c.*217C>G
|
rs537775144
|
0.00051
|
NM_000064.4(C3):c.1480-4C>A
|
rs200965763
|
0.00050
|
NM_000186.4(CFH):c.2509G>A (p.Val837Ile)
|
rs55807605
|
0.00050
|
NM_000186.4(CFH):c.2637A>G (p.Gly879=)
|
rs55752475
|
0.00050
|
NM_031935.3(HMCN1):c.7345A>G (p.Met2449Val)
|
rs199613884
|
0.00050
|
NM_000186.4(CFH):c.285T>C (p.Thr95=)
|
rs148182625
|
0.00049
|
NM_001710.6(CFB):c.658+7T>C
|
rs541260302
|
0.00049
|
NM_006329.4(FBLN5):c.*363C>T
|
rs536827304
|
0.00049
|
NM_022726.4(ELOVL4):c.*1511G>A
|
rs547251322
|
0.00049
|
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln)
|
rs61750641
|
0.00048
|
NM_001319074.4(RAX2):c.-281G>A
|
rs182965071
|
0.00048
|
NM_001319074.4(RAX2):c.-316G>A
|
rs576680324
|
0.00048
|
NM_031935.3(HMCN1):c.15764T>C (p.Ile5255Thr)
|
rs143665535
|
0.00048
|
NM_000186.4(CFH):c.172T>G (p.Ser58Ala)
|
rs141336681
|
0.00047
|
NM_031935.3(HMCN1):c.16460G>A (p.Arg5487His)
|
rs184128357
|
0.00047
|
NM_031935.3(HMCN1):c.3276T>G (p.Leu1092=)
|
rs146430539
|
0.00047
|
NM_031935.3(HMCN1):c.13868G>A (p.Arg4623Gln)
|
rs145398864
|
0.00046
|
NM_031935.3(HMCN1):c.2164G>A (p.Glu722Lys)
|
rs34692227
|
0.00046
|
NM_031935.3(HMCN1):c.5881C>T (p.Leu1961Phe)
|
rs140559544
|
0.00046
|
NM_031935.3(HMCN1):c.2119G>T (p.Val707Phe)
|
rs137903471
|
0.00045
|
NM_000064.4(C3):c.1449C>T (p.His483=)
|
rs140133060
|
0.00044
|
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu)
|
rs61748434
|
0.00044
|
NM_031935.3(HMCN1):c.8939A>C (p.Asn2980Thr)
|
rs150226500
|
0.00044
|
NM_000186.4(CFH):c.1825G>A (p.Val609Ile)
|
rs148165372
|
0.00042
|
NM_000063.6(C2):c.1413C>T (p.Asn471=)
|
rs138221333
|
0.00041
|
NM_000064.4(C3):c.1452G>A (p.Glu484=)
|
rs146594928
|
0.00041
|
NM_000064.4(C3):c.1731T>C (p.Pro577=)
|
rs148182019
|
0.00041
|
NM_000064.4(C3):c.1855G>A (p.Val619Met)
|
rs146613648
|
0.00041
|
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=)
|
rs61754033
|
0.00041
|
NM_001319074.4(RAX2):c.*776C>T
|
rs887917665
|
0.00041
|
NM_031935.3(HMCN1):c.5732T>C (p.Ile1911Thr)
|
rs150811327
|
0.00041
|
NM_031935.3(HMCN1):c.11134C>T (p.Pro3712Ser)
|
rs141099682
|
0.00040
|
NM_000064.4(C3):c.-44C>T
|
rs773043245
|
0.00039
|
NM_000186.4(CFH):c.2821G>T (p.Val941Phe)
|
rs529491401
|
0.00039
|
NM_031935.3(HMCN1):c.11404+11G>A
|
rs187354891
|
0.00039
|
NM_000186.4(CFH):c.245-8C>T
|
rs537160602
|
0.00038
|
NM_031935.3(HMCN1):c.13855C>A (p.Gln4619Lys)
|
rs137942830
|
0.00038
|
NM_031935.3(HMCN1):c.5923A>G (p.Ile1975Val)
|
rs145889775
|
0.00038
|
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_006017.3(PROM1):c.-168G>A
|
rs180926533
|
0.00037
|
NM_031935.3(HMCN1):c.12965A>T (p.Asp4322Val)
|
rs138409434
|
0.00037
|
NM_000186.3(CFH):c.-175T>C
|
rs762143457
|
0.00036
|
NM_000186.4(CFH):c.1111C>A (p.His371Asn)
|
rs145650378
|
0.00036
|
NM_000186.4(CFH):c.3133+8G>T
|
rs142718541
|
0.00036
|
NM_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
0.00036
|
NM_006017.3(PROM1):c.2112C>T (p.Arg704=)
|
rs375358457
|
0.00036
|
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=)
|
rs143131185
|
0.00036
|
NM_031935.3(HMCN1):c.11640C>T (p.Asn3880=)
|
rs140981285
|
0.00036
|
NM_031935.3(HMCN1):c.2157C>T (p.Thr719=)
|
rs141371119
|
0.00036
|
NM_031935.3(HMCN1):c.9929T>C (p.Leu3310Pro)
|
rs148265876
|
0.00036
|
NM_000064.4(C3):c.4827C>T (p.Ser1609=)
|
rs150537373
|
0.00035
|
NM_031935.3(HMCN1):c.602A>G (p.Asp201Gly)
|
rs182468717
|
0.00035
|
NM_000064.4(C3):c.4824C>T (p.Ser1608=)
|
rs139457470
|
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_001371596.2(MFSD8):c.1311C>G (p.Ser437=)
|
rs145453022
|
0.00034
|
NM_019098.5(CNGB3):c.*737T>C
|
rs146999298
|
0.00034
|
NM_031935.3(HMCN1):c.*669A>G
|
rs577673255
|
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_004183.4(BEST1):c.422G>A (p.Arg141His)
|
rs121918284
|
0.00033
|
NM_006017.3(PROM1):c.1911+8G>A
|
rs370302107
|
0.00033
|
NM_006329.4(FBLN5):c.*121C>T
|
rs548351890
|
0.00033
|
NM_031935.3(HMCN1):c.14562C>T (p.Pro4854=)
|
rs138776748
|
0.00033
|
NM_031935.3(HMCN1):c.14927G>A (p.Arg4976Gln)
|
rs201563661
|
0.00033
|
NM_031935.3(HMCN1):c.7048C>A (p.Leu2350Met)
|
rs201628935
|
0.00033
|
NM_000041.4(APOE):c.805C>G (p.Arg269Gly)
|
rs267606661
|
0.00032
|
NM_000186.4(CFH):c.2171C>A (p.Thr724Lys)
|
rs142902005
|
0.00032
|
NM_000063.6(C2):c.1450A>G (p.Ile484Val)
|
rs145988012
|
0.00031
|
NM_000063.6(C2):c.929A>G (p.Asn310Ser)
|
rs144201432
|
0.00031
|
NM_000064.4(C3):c.1909G>C (p.Gly637Arg)
|
rs149850773
|
0.00031
|
NM_000064.4(C3):c.2799G>A (p.Pro933=)
|
rs149209011
|
0.00031
|
NM_000186.4(CFH):c.2957-7A>G
|
rs190778135
|
0.00031
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_001319074.4(RAX2):c.*1169G>A
|
rs554924169
|
0.00031
|
NM_019098.5(CNGB3):c.2308G>T (p.Val770Phe)
|
rs78239264
|
0.00031
|
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys)
|
rs148018494
|
0.00031
|
NM_031935.3(HMCN1):c.3740C>T (p.Ala1247Val)
|
rs145595000
|
0.00031
|
NM_031935.3(HMCN1):c.8391T>C (p.Leu2797=)
|
rs149752078
|
0.00031
|
NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser)
|
rs191172038
|
0.00030
|
NM_022726.4(ELOVL4):c.*1048G>A
|
rs569179100
|
0.00030
|
NM_031935.3(HMCN1):c.2385C>T (p.Phe795=)
|
rs140778669
|
0.00030
|
NM_031935.3(HMCN1):c.959G>A (p.Arg320Gln)
|
rs140296295
|
0.00030
|
NM_000063.6(C2):c.73C>T (p.Pro25Ser)
|
rs200095096
|
0.00029
|
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His)
|
rs55679475
|
0.00029
|
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu)
|
rs55771831
|
0.00029
|
NM_019098.5(CNGB3):c.912C>T (p.Val304=)
|
rs117806701
|
0.00029
|
NM_031935.3(HMCN1):c.10989+5A>G
|
rs200045422
|
0.00029
|
NM_031935.3(HMCN1):c.14323G>A (p.Gly4775Arg)
|
rs147296385
|
0.00029
|
NM_031935.3(HMCN1):c.4920G>A (p.Met1640Ile)
|
rs145758069
|
0.00029
|
NM_000350.3(ABCA4):c.3076T>C (p.Phe1026Leu)
|
rs369703217
|
0.00028
|
NM_001099667.3(ARMS2):c.39G>A (p.Ala13=)
|
rs200123144
|
0.00028
|
NM_031935.3(HMCN1):c.14111C>T (p.Ala4704Val)
|
rs41317503
|
0.00028
|
NM_000063.6(C2):c.749C>G (p.Ser250Cys)
|
rs150827255
|
0.00027
|
NM_000064.4(C3):c.3855C>T (p.Asp1285=)
|
rs142359391
|
0.00027
|
NM_022726.4(ELOVL4):c.*377T>A
|
rs77249894
|
0.00027
|
NM_000064.4(C3):c.4635C>T (p.Tyr1545=)
|
rs189948635
|
0.00026
|
NM_000186.4(CFH):c.3079G>C (p.Ala1027Pro)
|
rs373385518
|
0.00026
|
NM_000322.5(PRPH2):c.94A>G (p.Ile32Val)
|
rs61755767
|
0.00026
|
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
|
rs140872693
|
0.00026
|
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe)
|
rs202041422
|
0.00026
|
NM_006329.4(FBLN5):c.143C>T (p.Thr48Ile)
|
rs141200859
|
0.00026
|
NM_006329.4(FBLN5):c.799G>A (p.Gly267Ser)
|
rs149396611
|
0.00026
|
NM_006329.4(FBLN5):c.989+9C>T
|
rs557362799
|
0.00026
|
NM_031935.3(HMCN1):c.*92A>G
|
rs558737295
|
0.00026
|
NM_031935.3(HMCN1):c.12536C>T (p.Thr4179Met)
|
rs147851396
|
0.00026
|
NM_000186.4(CFH):c.3133+4C>G
|
rs374729595
|
0.00025
|
NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu)
|
rs62625015
|
0.00025
|
NM_001099667.3(ARMS2):c.*107T>G
|
rs183542198
|
0.00025
|
NM_006329.4(FBLN5):c.862+12C>T
|
rs202088447
|
0.00025
|
NM_019098.5(CNGB3):c.*1371G>T
|
rs372688369
|
0.00025
|
NM_019098.5(CNGB3):c.2415A>C (p.Glu805Asp)
|
rs186448979
|
0.00025
|
NM_000041.4(APOE):c.69G>A (p.Ala23=)
|
rs111833428
|
0.00024
|
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met)
|
rs61752424
|
0.00024
|
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)
|
rs148460146
|
0.00024
|
NM_031935.3(HMCN1):c.1021+8T>C
|
rs199547255
|
0.00024
|
NM_031935.3(HMCN1):c.11333C>T (p.Thr3778Ile)
|
rs199585281
|
0.00024
|
NM_000064.4(C3):c.1873A>T (p.Ile625Phe)
|
rs144432231
|
0.00023
|
NM_000186.4(CFH):c.3291G>A (p.Thr1097=)
|
rs409953
|
0.00023
|
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)
|
rs61750130
|
0.00023
|
NM_031935.3(HMCN1):c.3764C>T (p.Thr1255Met)
|
rs201379680
|
0.00023
|
NM_000063.6(C2):c.2080-8T>C
|
rs201806170
|
0.00022
|
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)
|
rs1801269
|
0.00022
|
NM_006017.3(PROM1):c.2271C>T (p.Ile757=)
|
rs375986111
|
0.00022
|
NM_000064.4(C3):c.4791G>A (p.Glu1597=)
|
rs149675330
|
0.00021
|
NM_000186.4(CFH):c.1949G>T (p.Gly650Val)
|
rs143237092
|
0.00021
|
NM_006017.3(PROM1):c.181A>G (p.Ile61Val)
|
rs201701647
|
0.00021
|
NM_006329.4(FBLN5):c.621T>C (p.Asp207=)
|
rs200178859
|
0.00021
|
NM_031935.3(HMCN1):c.14095A>G (p.Ile4699Val)
|
rs141213545
|
0.00021
|
NM_031935.3(HMCN1):c.14726G>A (p.Arg4909His)
|
rs148097981
|
0.00021
|
NM_000063.6(C2):c.218C>T (p.Pro73Leu)
|
rs137902889
|
0.00020
|
NM_006017.3(PROM1):c.678G>A (p.Ala226=)
|
rs187116049
|
0.00020
|
NM_031935.3(HMCN1):c.36G>C (p.Leu12=)
|
rs76631922
|
0.00020
|
NM_000064.4(C3):c.1650C>T (p.Ser550=)
|
rs138835619
|
0.00019
|
NM_000064.4(C3):c.1923C>T (p.Asp641=)
|
rs113044084
|
0.00019
|
NM_000064.4(C3):c.2354+19C>T
|
rs192942944
|
0.00019
|
NM_000064.4(C3):c.774-4G>A
|
rs368095422
|
0.00019
|
NM_000186.4(CFH):c.1198C>A (p.Gln400Lys)
|
rs201671665
|
0.00019
|
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)
|
rs121913059
|
0.00019
|
NM_000350.3(ABCA4):c.2473G>A (p.Gly825Arg)
|
rs368367104
|
0.00019
|
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys)
|
rs61750120
|
0.00019
|
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu)
|
rs146786552
|
0.00019
|
NM_000350.3(ABCA4):c.5606C>T (p.Pro1869Leu)
|
rs376925793
|
0.00019
|
NM_001319074.4(RAX2):c.260G>A (p.Arg87Gln)
|
rs121908280
|
0.00019
|
NM_001371596.2(MFSD8):c.677T>C (p.Ile226Thr)
|
rs200591471
|
0.00019
|
NM_006017.3(PROM1):c.843C>T (p.His281=)
|
rs374394451
|
0.00019
|
NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln)
|
rs142907552
|
0.00019
|
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser)
|
rs144288844
|
0.00019
|
NM_019098.5(CNGB3):c.*798A>C
|
rs886063157
|
0.00019
|
NM_022726.4(ELOVL4):c.*349C>T
|
rs1042694825
|
0.00019
|
NM_031935.3(HMCN1):c.15440-9C>T
|
rs374670687
|
0.00019
|
NM_031935.3(HMCN1):c.861G>A (p.Val287=)
|
rs138455877
|
0.00019
|
NM_000322.5(PRPH2):c.541A>T (p.Ser181Cys)
|
rs1465783712
|
0.00018
|
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
0.00018
|
NM_031935.3(HMCN1):c.12649A>G (p.Thr4217Ala)
|
rs138440972
|
0.00018
|
NM_000063.5(C2):c.-145A>C
|
rs150299426
|
0.00017
|
NM_000063.6(C2):c.1130-11C>T
|
rs117576077
|
0.00017
|
NM_000063.6(C2):c.936C>G (p.Asn312Lys)
|
rs532091149
|
0.00017
|
NM_000064.4(C3):c.4319A>C (p.Asp1440Ala)
|
rs147116781
|
0.00017
|
NM_000186.4(CFH):c.2675C>T (p.Ala892Val)
|
rs151068461
|
0.00017
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_001710.6(CFB):c.2100C>T (p.Gly700=)
|
rs116928087
|
0.00017
|
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly)
|
rs139337746
|
0.00017
|
NM_022726.4(ELOVL4):c.*146A>T
|
rs1042725955
|
0.00017
|
NM_022726.4(ELOVL4):c.*327A>G
|
rs1001220828
|
0.00017
|
NM_031935.3(HMCN1):c.4382A>G (p.Asn1461Ser)
|
rs376910631
|
0.00017
|
NM_031935.3(HMCN1):c.8346G>C (p.Arg2782Ser)
|
rs199920138
|
0.00017
|
NM_000063.6(C2):c.*82C>T
|
rs747202032
|
0.00016
|
NM_000063.6(C2):c.1716G>C (p.Lys572Asn)
|
rs376278843
|
0.00016
|
NM_000064.4(C3):c.1623C>T (p.Ser541=)
|
rs202078483
|
0.00016
|
NM_000064.4(C3):c.2157G>A (p.Ala719=)
|
rs143671993
|
0.00016
|
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)
|
rs61750152
|
0.00016
|
NM_001371596.2(MFSD8):c.864-16A>T
|
rs202196597
|
0.00016
|
NM_006017.3(PROM1):c.1279T>C (p.Leu427=)
|
rs200710798
|
0.00016
|
NM_019098.5(CNGB3):c.*499G>C
|
rs540507221
|
0.00016
|
NM_031935.3(HMCN1):c.*872C>T
|
rs746238036
|
0.00016
|
NM_031935.3(HMCN1):c.11231T>A (p.Ile3744Lys)
|
rs149594098
|
0.00016
|
NM_031935.3(HMCN1):c.7677G>C (p.Lys2559Asn)
|
rs139899015
|
0.00016
|
NM_031935.3(HMCN1):c.9888-5C>T
|
rs142970299
|
0.00016
|
NM_019098.5(CNGB3):c.*84C>T
|
rs372938106
|
0.00015
|
NM_031935.3(HMCN1):c.12746C>T (p.Thr4249Ile)
|
rs200642597
|
0.00015
|
NM_031935.3(HMCN1):c.3403A>G (p.Met1135Val)
|
rs781513060
|
0.00015
|
NM_031935.3(HMCN1):c.5137G>A (p.Val1713Met)
|
rs140990615
|
0.00015
|
NM_000063.6(C2):c.1169A>C (p.Asp390Ala)
|
rs142088624
|
0.00014
|
NM_000063.6(C2):c.1613C>T (p.Ala538Val)
|
rs140194348
|
0.00014
|
NM_000064.4(C3):c.1722G>A (p.Gln574=)
|
rs140143815
|
0.00014
|
NM_000064.4(C3):c.2184C>T (p.Cys728=)
|
rs200258941
|
0.00014
|
NM_000064.4(C3):c.4667A>G (p.Asn1556Ser)
|
rs139381845
|
0.00014
|
NM_000186.4(CFH):c.3004G>C (p.Gly1002Arg)
|
rs201816520
|
0.00014
|
NM_000186.4(CFH):c.472G>A (p.Val158Ile)
|
rs141852866
|
0.00014
|
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)
|
rs201602424
|
0.00014
|
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala)
|
rs121909207
|
0.00014
|
NM_000350.3(ABCA4):c.6560A>G (p.Gln2187Arg)
|
rs1339233014
|
0.00014
|
NM_001319074.4(RAX2):c.*201C>T
|
rs565417258
|
0.00014
|
NM_006329.4(FBLN5):c.1191G>A (p.Thr397=)
|
rs148660796
|
0.00014
|
NM_019098.5(CNGB3):c.*649A>G
|
rs778028865
|
0.00014
|
NM_019098.5(CNGB3):c.*997A>G
|
rs141428300
|
0.00014
|
NM_031935.3(HMCN1):c.109G>A (p.Glu37Lys)
|
rs199574143
|
0.00014
|
NM_031935.3(HMCN1):c.11423C>T (p.Pro3808Leu)
|
rs199984579
|
0.00014
|
NM_031935.3(HMCN1):c.15109T>C (p.Tyr5037His)
|
rs41317505
|
0.00014
|
NM_031935.3(HMCN1):c.4009A>T (p.Ile1337Phe)
|
rs188107197
|
0.00014
|
NM_031935.3(HMCN1):c.9522T>A (p.Asp3174Glu)
|
rs76432158
|
0.00014
|
NM_000041.4(APOE):c.434G>A (p.Gly145Asp)
|
rs267606664
|
0.00013
|
NM_000063.6(C2):c.1902+5G>A
|
rs201711512
|
0.00013
|
NM_000186.4(CFH):c.388G>A (p.Asp130Asn)
|
rs147002633
|
0.00013
|
NM_000350.3(ABCA4):c.5196+1137G>A
|
rs778234759
|
0.00013
|
NM_019098.5(CNGB3):c.*1470G>C
|
rs568808064
|
0.00013
|
NM_019098.5(CNGB3):c.*293T>C
|
rs141717983
|
0.00013
|
NM_019098.5(CNGB3):c.1833C>T (p.His611=)
|
rs368787128
|
0.00013
|
NM_019098.5(CNGB3):c.624C>T (p.Asn208=)
|
rs144347980
|
0.00013
|
NM_031935.3(HMCN1):c.12165T>G (p.Thr4055=)
|
rs147891898
|
0.00013
|
NM_178857.6(RP1L1):c.2927C>T (p.Ala976Val)
|
rs200854148
|
0.00013
|
NM_000064.4(C3):c.2861G>A (p.Arg954His)
|
rs139864704
|
0.00012
|
NM_000064.4(C3):c.681C>T (p.Tyr227=)
|
rs756694755
|
0.00012
|
NM_001319074.4(RAX2):c.*501C>T
|
rs891425007
|
0.00012
|
NM_006329.4(FBLN5):c.604G>A (p.Gly202Arg)
|
rs80338765
|
0.00012
|
NM_000063.6(C2):c.1577A>G (p.Lys526Arg)
|
rs146054348
|
0.00011
|
NM_000064.4(C3):c.1027C>T (p.Arg343Cys)
|
rs772505177
|
0.00011
|
NM_000064.4(C3):c.1273C>T (p.Arg425Cys)
|
rs200967589
|
0.00011
|
NM_000064.4(C3):c.1480-10G>A
|
rs200390075
|
0.00011
|
NM_000064.4(C3):c.2047+7G>A
|
rs770932217
|
0.00011
|
NM_000064.4(C3):c.2204G>A (p.Arg735Gln)
|
rs201285239
|
0.00011
|
NM_000064.4(C3):c.2991G>A (p.Ala997=)
|
rs150763358
|
0.00011
|
NM_000064.4(C3):c.4148C>A (p.Thr1383Asn)
|
rs139100972
|
0.00011
|
NM_000064.4(C3):c.420C>A (p.Thr140=)
|
rs182399298
|
0.00011
|
NM_000186.4(CFH):c.2488C>T (p.Arg830Trp)
|
rs62641696
|
0.00011
|
NM_000186.4(CFH):c.476G>A (p.Ser159Asn)
|
rs370640334
|
0.00011
|
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys)
|
rs138157885
|
0.00011
|
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp)
|
rs369512467
|
0.00011
|
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln)
|
rs369815021
|
0.00011
|
NM_019098.5(CNGB3):c.*108C>T
|
rs1031324821
|
0.00011
|
NM_019098.5(CNGB3):c.2087G>A (p.Arg696Gln)
|
rs377730576
|
0.00011
|
NM_019098.5(CNGB3):c.721G>A (p.Val241Ile)
|
rs138320784
|
0.00011
|
NM_031935.3(HMCN1):c.*327C>A
|
rs541810746
|
0.00011
|
NM_031935.3(HMCN1):c.11905G>A (p.Ala3969Thr)
|
rs145955451
|
0.00011
|
NM_031935.3(HMCN1):c.4373A>G (p.Asn1458Ser)
|
rs757430423
|
0.00011
|
NM_031935.3(HMCN1):c.5922G>C (p.Gln1974His)
|
rs147974906
|
0.00011
|
NM_031935.3(HMCN1):c.7212A>G (p.Val2404=)
|
rs368757349
|
0.00011
|
NM_031935.3(HMCN1):c.974G>A (p.Arg325Gln)
|
rs202206115
|
0.00011
|
NM_000064.4(C3):c.4030-4C>T
|
rs372612816
|
0.00010
|
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys)
|
rs147403664
|
0.00010
|
NM_000186.4(CFH):c.2461C>T (p.His821Tyr)
|
rs367687415
|
0.00010
|
NM_000186.4(CFH):c.332T>A (p.Val111Glu)
|
rs576819823
|
0.00010
|
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)
|
rs139185976
|
0.00010
|
NM_006017.3(PROM1):c.-127A>G
|
rs886059206
|
0.00010
|
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn)
|
rs146434364
|
0.00010
|
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp)
|
rs28939073
|
0.00010
|
NM_022726.4(ELOVL4):c.*1020A>G
|
rs563759730
|
0.00010
|
NM_022726.4(ELOVL4):c.*1506A>G
|
rs886061798
|
0.00010
|
NM_031935.3(HMCN1):c.*18A>G
|
rs202061344
|
0.00010
|
NM_031935.3(HMCN1):c.16526G>A (p.Arg5509Gln)
|
rs140641844
|
0.00010
|
NM_031935.3(HMCN1):c.16811G>T (p.Arg5604Leu)
|
rs372803002
|
0.00010
|
NM_031935.3(HMCN1):c.6813G>A (p.Ala2271=)
|
rs181852740
|
0.00010
|
NM_000063.6(C2):c.2253C>T (p.Pro751=)
|
rs771797450
|
0.00009
|
NM_000064.4(C3):c.1686G>A (p.Ser562=)
|
rs143750180
|
0.00009
|
NM_000064.4(C3):c.216G>A (p.Glu72=)
|
rs375940408
|
0.00009
|
NM_000064.4(C3):c.2797-5C>T
|
rs369673832
|
0.00009
|
NM_000064.4(C3):c.3655C>T (p.Arg1219Cys)
|
rs373102036
|
0.00009
|
NM_000064.4(C3):c.3687C>T (p.Asn1229=)
|
rs201108539
|
0.00009
|
NM_000064.4(C3):c.4535G>A (p.Arg1512His)
|
rs142868256
|
0.00009
|
NM_000064.4(C3):c.835G>A (p.Glu279Lys)
|
rs146167974
|
0.00009
|
NM_000064.4(C3):c.928G>A (p.Gly310Arg)
|
rs139527231
|
0.00009
|
NM_000064.4(C3):c.987C>T (p.Thr329=)
|
rs748313429
|
0.00009
|
NM_000186.4(CFH):c.3045T>C (p.Thr1015=)
|
rs147864267
|
0.00009
|
NM_000186.4(CFH):c.3318A>G (p.Thr1106=)
|
rs1137971
|
0.00009
|
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)
|
rs61750145
|
0.00009
|
NM_000350.3(ABCA4):c.5714+4C>T
|
rs376586802
|
0.00009
|
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)
|
rs375315619
|
0.00009
|
NM_006017.3(PROM1):c.376G>A (p.Val126Met)
|
rs199556426
|
0.00009
|
NM_006329.4(FBLN5):c.*98G>A
|
rs568348723
|
0.00009
|
NM_031935.3(HMCN1):c.*884C>G
|
rs753718697
|
0.00009
|
NM_031935.3(HMCN1):c.1104A>G (p.Ser368=)
|
rs41317461
|
0.00009
|
NM_031935.3(HMCN1):c.14639T>G (p.Ile4880Ser)
|
rs77460954
|
0.00009
|
NM_031935.3(HMCN1):c.1751A>G (p.Asn584Ser)
|
rs143393655
|
0.00009
|
NM_031935.3(HMCN1):c.6239G>C (p.Arg2080Thr)
|
rs199945360
|
0.00009
|
NM_031935.3(HMCN1):c.6296G>A (p.Arg2099Gln)
|
rs116409560
|
0.00009
|
NM_031935.3(HMCN1):c.7499C>T (p.Thr2500Ile)
|
rs376810057
|
0.00009
|
NM_000350.3(ABCA4):c.3608-35A>G
|
rs372604876
|
0.00008
|
NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr)
|
rs61754056
|
0.00008
|
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.5478C>T (p.Asn1826=)
|
rs762632312
|
0.00008
|
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)
|
rs61750200
|
0.00008
|
NM_006329.4(FBLN5):c.*426C>T
|
rs553193064
|
0.00008
|
NM_006329.4(FBLN5):c.1113G>A (p.Thr371=)
|
rs560780691
|
0.00008
|
NM_022726.4(ELOVL4):c.311C>T (p.Ala104Val)
|
rs200915130
|
0.00008
|
NM_031935.3(HMCN1):c.11915C>T (p.Ala3972Val)
|
rs752692827
|
0.00008
|
NM_031935.3(HMCN1):c.16741G>A (p.Ala5581Thr)
|
rs754660196
|
0.00008
|
NM_031935.3(HMCN1):c.4828G>A (p.Val1610Ile)
|
rs201176937
|
0.00008
|
NM_000063.6(C2):c.1109C>T (p.Ala370Val)
|
rs777200072
|
0.00007
|
NM_000063.6(C2):c.980A>G (p.Asn327Ser)
|
rs766665783
|
0.00007
|
NM_000064.4(C3):c.1758G>A (p.Glu586=)
|
rs764201055
|
0.00007
|
NM_000064.4(C3):c.2207G>A (p.Arg736Gln)
|
rs578116271
|
0.00007
|
NM_000064.4(C3):c.2951-5T>C
|
rs375107570
|
0.00007
|
NM_000064.4(C3):c.3124C>T (p.Arg1042Trp)
|
rs550043629
|
0.00007
|
NM_000186.4(CFH):c.350+9T>C
|
rs201686629
|
0.00007
|
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)
|
rs201471607
|
0.00007
|
NM_000350.3(ABCA4):c.5881G>A (p.Gly1961Arg)
|
rs142253670
|
0.00007
|
NM_001099667.3(ARMS2):c.-9G>A
|
rs186211237
|
0.00007
|
NM_001319074.4(RAX2):c.-286G>T
|
rs563046576
|
0.00007
|
NM_001319074.4(RAX2):c.413C>T (p.Pro138Leu)
|
rs978473853
|
0.00007
|
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp)
|
rs201870277
|
0.00007
|
NM_006017.3(PROM1):c.717C>T (p.Gly239=)
|
rs763697898
|
0.00007
|
NM_006329.4(FBLN5):c.-413C>T
|
rs886050892
|
0.00007
|
NM_022726.4(ELOVL4):c.*1568A>G
|
rs886061796
|
0.00007
|
NM_031935.3(HMCN1):c.11722G>C (p.Val3908Leu)
|
rs146636123
|
0.00007
|
NM_031935.3(HMCN1):c.11797A>T (p.Asn3933Tyr)
|
rs184081240
|
0.00007
|
NM_031935.3(HMCN1):c.13875T>G (p.Cys4625Trp)
|
rs371095992
|
0.00007
|
NM_031935.3(HMCN1):c.13966A>G (p.Ser4656Gly)
|
rs776783939
|
0.00007
|
NM_031935.3(HMCN1):c.15127G>A (p.Val5043Ile)
|
rs769706639
|
0.00007
|
NM_031935.3(HMCN1):c.3422G>A (p.Arg1141His)
|
rs370518238
|
0.00007
|
NM_031935.3(HMCN1):c.6511C>T (p.Arg2171Cys)
|
rs41317477
|
0.00007
|
NM_031935.3(HMCN1):c.7714A>G (p.Thr2572Ala)
|
rs201878929
|
0.00007
|
NM_000063.6(C2):c.*304A>G
|
rs72842444
|
0.00006
|
NM_000063.6(C2):c.1529G>A (p.Arg510His)
|
rs45476300
|
0.00006
|
NM_000063.6(C2):c.442+15T>G
|
rs776839411
|
0.00006
|
NM_000064.4(C3):c.1098A>G (p.Pro366=)
|
rs757883156
|
0.00006
|
NM_000064.4(C3):c.1119+10G>A
|
rs752328639
|
0.00006
|
NM_000064.4(C3):c.1164C>T (p.Pro388=)
|
rs769368306
|
0.00006
|
NM_000064.4(C3):c.2248A>T (p.Asn750Tyr)
|
rs769294331
|
0.00006
|
NM_000064.4(C3):c.2441-7C>T
|
rs372528487
|
0.00006
|
NM_000064.4(C3):c.2907C>T (p.Asp969=)
|
rs144672500
|
0.00006
|
NM_000064.4(C3):c.3018C>T (p.Thr1006=)
|
rs141373588
|
0.00006
|
NM_000064.4(C3):c.3858C>T (p.Ala1286=)
|
rs751808949
|
0.00006
|
NM_000064.4(C3):c.4095C>G (p.Val1365=)
|
rs527830114
|
0.00006
|
NM_000064.4(C3):c.4257G>A (p.Lys1419=)
|
rs768065757
|
0.00006
|
NM_000064.4(C3):c.763A>G (p.Ile255Val)
|
rs746486431
|
0.00006
|
NM_000186.4(CFH):c.1418C>T (p.Ala473Val)
|
rs371053403
|
0.00006
|
NM_000186.4(CFH):c.1922T>C (p.Val641Ala)
|
rs371768180
|
0.00006
|
NM_000186.4(CFH):c.2056+16T>C
|
rs777352172
|
0.00006
|
NM_000186.4(CFH):c.2195C>T (p.Thr732Met)
|
rs201360629
|
0.00006
|
NM_000186.4(CFH):c.2196G>A (p.Thr732=)
|
rs144325643
|
0.00006
|
NM_000186.4(CFH):c.245-17T>A
|
rs775088366
|
0.00006
|
NM_000186.4(CFH):c.3310+12T>C
|
rs757045842
|
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.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.4610C>T (p.Thr1537Met)
|
rs62642575
|
0.00006
|
NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met)
|
rs185093512
|
0.00006
|
NM_000350.3(ABCA4):c.768G>T (p.Val256=)
|
rs62645944
|
0.00006
|
NM_001099667.3(ARMS2):c.*15A>G
|
rs886046771
|
0.00006
|
NM_001319074.4(RAX2):c.83G>A (p.Arg28Gln)
|
rs199546013
|
0.00006
|
NM_006017.3(PROM1):c.*580T>A
|
rs1250583925
|
0.00006
|
NM_006017.3(PROM1):c.277-15C>T
|
rs372599685
|
0.00006
|
NM_019098.5(CNGB3):c.1531G>A (p.Ala511Thr)
|
rs150642676
|
0.00006
|
NM_019098.5(CNGB3):c.670C>T (p.Leu224Phe)
|
rs373286939
|
0.00006
|
NM_019098.5(CNGB3):c.677C>A (p.Thr226Asn)
|
rs202240228
|
0.00006
|
NM_019098.5(CNGB3):c.720C>T (p.Leu240=)
|
rs770816095
|
0.00006
|
NM_022726.4(ELOVL4):c.-163C>A
|
rs374986643
|
0.00006
|
NM_031935.3(HMCN1):c.*689G>A
|
rs978833235
|
0.00006
|
NM_031935.3(HMCN1):c.13230+9C>T
|
rs573598298
|
0.00006
|
NM_031935.3(HMCN1):c.13441T>A (p.Ser4481Thr)
|
rs778062119
|
0.00006
|
NM_031935.3(HMCN1):c.13442C>A (p.Ser4481Tyr)
|
rs747405345
|
0.00006
|
NM_031935.3(HMCN1):c.13582+11T>C
|
rs764698262
|
0.00006
|
NM_031935.3(HMCN1):c.14076C>T (p.Cys4692=)
|
rs144621380
|
0.00006
|
NM_031935.3(HMCN1):c.16021T>C (p.Cys5341Arg)
|
rs375692254
|
0.00006
|
NM_031935.3(HMCN1):c.1655C>A (p.Thr552Asn)
|
rs200601125
|
0.00006
|
NM_031935.3(HMCN1):c.4385A>T (p.Glu1462Val)
|
rs371177035
|
0.00006
|
NM_031935.3(HMCN1):c.7017A>G (p.Val2339=)
|
rs758248236
|
0.00006
|
NM_031935.3(HMCN1):c.7327C>T (p.Arg2443Trp)
|
rs376132541
|
0.00006
|
NM_000063.6(C2):c.*141C>T
|
rs1026987640
|
0.00005
|
NM_000063.6(C2):c.-36G>A
|
rs758966628
|
0.00005
|
NM_000063.6(C2):c.386G>A (p.Arg129His)
|
rs367996721
|
0.00005
|
NM_000064.4(C3):c.1119+14C>T
|
rs374368486
|
0.00005
|
NM_000064.4(C3):c.1470C>T (p.Tyr490=)
|
rs762635358
|
0.00005
|
NM_000064.4(C3):c.1819A>G (p.Lys607Glu)
|
rs140637006
|
0.00005
|
NM_000064.4(C3):c.1854C>T (p.Asp618=)
|
rs570503574
|
0.00005
|
NM_000064.4(C3):c.193A>C (p.Lys65Gln)
|
rs539992721
|
0.00005
|
NM_000064.4(C3):c.3096G>C (p.Glu1032Asp)
|
rs148698696
|
0.00005
|
NM_000064.4(C3):c.3131G>A (p.Gly1044Glu)
|
rs373392964
|
0.00005
|
NM_000064.4(C3):c.3953T>G (p.Leu1318Arg)
|
rs769873702
|
0.00005
|
NM_000064.4(C3):c.4084G>A (p.Asp1362Asn)
|
rs368788004
|
0.00005
|
NM_000064.4(C3):c.4471C>T (p.Arg1491Trp)
|
rs140928439
|
0.00005
|
NM_000186.4(CFH):c.2085T>A (p.Pro695=)
|
rs777482186
|
0.00005
|
NM_000186.4(CFH):c.3160G>A (p.Val1054Ile)
|
rs757426928
|
0.00005
|
NM_000186.4(CFH):c.59-16T>C
|
rs201067374
|
0.00005
|
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)
|
rs201117452
|
0.00005
|
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln)
|
rs61748559
|
0.00005
|
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)
|
rs142732109
|
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_001319074.4(RAX2):c.*1054C>T
|
rs368356816
|
0.00005
|
NM_001319074.4(RAX2):c.131G>A (p.Arg44Gln)
|
rs370757303
|
0.00005
|
NM_001319074.4(RAX2):c.236G>A (p.Arg79Gln)
|
rs779301810
|
0.00005
|
NM_001710.6(CFB):c.1778+8C>T
|
rs148298609
|
0.00005
|
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser)
|
rs201748228
|
0.00005
|
NM_006017.3(PROM1):c.1344C>T (p.Ile448=)
|
rs147174580
|
0.00005
|
NM_006017.3(PROM1):c.2582+9A>C
|
rs200033458
|
0.00005
|
NM_006017.3(PROM1):c.718G>A (p.Gly240Arg)
|
rs752543587
|
0.00005
|
NM_006329.4(FBLN5):c.901C>A (p.Leu301Met)
|
rs377360782
|
0.00005
|
NM_022726.4(ELOVL4):c.-35C>T
|
rs751105802
|
0.00005
|
NM_031935.3(HMCN1):c.12726C>T (p.Asn4242=)
|
rs150757082
|
0.00005
|
NM_031935.3(HMCN1):c.13888G>A (p.Val4630Met)
|
rs146247104
|
0.00005
|
NM_031935.3(HMCN1):c.15467A>G (p.His5156Arg)
|
rs770537331
|
0.00005
|
NM_031935.3(HMCN1):c.16299T>G (p.Ile5433Met)
|
rs553018813
|
0.00005
|
NM_031935.3(HMCN1):c.1973A>G (p.Tyr658Cys)
|
rs370251638
|
0.00005
|
NM_031935.3(HMCN1):c.4348+11C>T
|
rs755881880
|
0.00005
|
NM_031935.3(HMCN1):c.4499A>G (p.Asn1500Ser)
|
rs772105060
|
0.00005
|
NM_031935.3(HMCN1):c.5411G>A (p.Arg1804Gln)
|
rs777060812
|
0.00005
|
NM_031935.3(HMCN1):c.6974C>T (p.Thr2325Ile)
|
rs147722917
|
0.00005
|
NM_031935.3(HMCN1):c.8241A>G (p.Ala2747=)
|
rs183725854
|
0.00005
|
NM_000063.6(C2):c.1981G>A (p.Asp661Asn)
|
rs374481091
|
0.00004
|
NM_000063.6(C2):c.245C>T (p.Ala82Val)
|
rs547881286
|
0.00004
|
NM_000064.4(C3):c.1274G>T (p.Arg425Leu)
|
rs201714568
|
0.00004
|
NM_000064.4(C3):c.1508C>T (p.Ala503Val)
|
rs781417846
|
0.00004
|
NM_000064.4(C3):c.2668C>T (p.Pro890Ser)
|
rs531463049
|
0.00004
|
NM_000064.4(C3):c.3024G>A (p.Ser1008=)
|
rs779366181
|
0.00004
|
NM_000064.4(C3):c.305G>A (p.Arg102His)
|
rs554587967
|
0.00004
|
NM_000064.4(C3):c.3299T>C (p.Leu1100Pro)
|
rs750654763
|
0.00004
|
NM_000064.4(C3):c.4353C>G (p.Val1451=)
|
rs750821412
|
0.00004
|
NM_000064.4(C3):c.4803C>T (p.His1601=)
|
rs762332809
|
0.00004
|
NM_000064.4(C3):c.769G>A (p.Ala257Thr)
|
rs200918899
|
0.00004
|
NM_000064.4(C3):c.944G>A (p.Arg315Gln)
|
rs761503659
|
0.00004
|
NM_000186.4(CFH):c.1736T>C (p.Val579Ala)
|
rs201411537
|
0.00004
|
NM_000186.4(CFH):c.1998G>T (p.Lys666Asn)
|
rs752859825
|
0.00004
|
NM_000186.4(CFH):c.2236+18A>G
|
rs749643506
|
0.00004
|
NM_000186.4(CFH):c.2596+8G>T
|
rs375176505
|
0.00004
|
NM_000186.4(CFH):c.2957-15T>C
|
rs756514818
|
0.00004
|
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr)
|
rs11539862
|
0.00004
|
NM_000186.4(CFH):c.481G>T (p.Ala161Ser)
|
rs777300338
|
0.00004
|
NM_000186.4(CFH):c.565G>A (p.Glu189Lys)
|
rs121913054
|
0.00004
|
NM_000186.4(CFH):c.764G>A (p.Gly255Glu)
|
rs771112278
|
0.00004
|
NM_000186.4(CFH):c.807T>C (p.Asn269=)
|
rs757654697
|
0.00004
|
NM_000186.4(CFH):c.907C>T (p.Arg303Trp)
|
rs142937931
|
0.00004
|
NM_000186.4(CFH):c.964+18C>A
|
rs1258420173
|
0.00004
|
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn)
|
rs747893076
|
0.00004
|
NM_000350.3(ABCA4):c.1222C>T (p.Arg408Ter)
|
rs61748550
|
0.00004
|
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr)
|
rs150774447
|
0.00004
|
NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)
|
rs61749412
|
0.00004
|
NM_000350.3(ABCA4):c.2300T>A (p.Val767Asp)
|
rs61751395
|
0.00004
|
NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln)
|
rs759799179
|
0.00004
|
NM_000350.3(ABCA4):c.4539+2028C>T
|
rs869320785
|
0.00004
|
NM_000350.3(ABCA4):c.4773+3A>G
|
rs759672616
|
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.766G>T (p.Val256Leu)
|
rs374851665
|
0.00004
|
NM_001319074.4(RAX2):c.*624G>A
|
rs886054368
|
0.00004
|
NM_001319074.4(RAX2):c.*751G>A
|
rs901586216
|
0.00004
|
NM_001319074.4(RAX2):c.*784C>T
|
rs929531306
|
0.00004
|
NM_001319074.4(RAX2):c.535A>G (p.Arg179Gly)
|
rs1025462223
|
0.00004
|
NM_001710.6(CFB):c.1374G>A (p.Met458Ile)
|
rs200837114
|
0.00004
|
NM_006017.3(PROM1):c.*1052G>A
|
rs577484119
|
0.00004
|
NM_006017.3(PROM1):c.*1070A>G
|
rs886059195
|
0.00004
|
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys)
|
rs770268627
|
0.00004
|
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro)
|
rs140682455
|
0.00004
|
NM_006017.3(PROM1):c.1407G>A (p.Pro469=)
|
rs763710252
|
0.00004
|
NM_006017.3(PROM1):c.155T>C (p.Ile52Thr)
|
rs778896066
|
0.00004
|
NM_006017.3(PROM1):c.1579-12A>C
|
rs370183490
|
0.00004
|
NM_006017.3(PROM1):c.1632G>T (p.Gly544=)
|
rs753308387
|
0.00004
|
NM_006017.3(PROM1):c.2364C>T (p.Ile788=)
|
rs551849678
|
0.00004
|
NM_006329.4(FBLN5):c.-57G>A
|
rs546827390
|
0.00004
|
NM_006329.4(FBLN5):c.1087G>A (p.Ala363Thr)
|
rs121434302
|
0.00004
|
NM_006329.4(FBLN5):c.273G>A (p.Pro91=)
|
rs368771780
|
0.00004
|
NM_019098.5(CNGB3):c.*206G>A
|
rs886063159
|
0.00004
|
NM_019098.5(CNGB3):c.*570T>C
|
rs965656666
|
0.00004
|
NM_019098.5(CNGB3):c.*731C>T
|
rs886063158
|
0.00004
|
NM_019098.5(CNGB3):c.2248C>T (p.Pro750Ser)
|
rs3735971
|
0.00004
|
NM_019098.5(CNGB3):c.2419G>A (p.Ala807Thr)
|
rs375288585
|
0.00004
|
NM_019098.5(CNGB3):c.739G>A (p.Ala247Thr)
|
rs150490913
|
0.00004
|
NM_031935.3(HMCN1):c.-87T>C
|
rs886045658
|
0.00004
|
NM_031935.3(HMCN1):c.12043C>T (p.Pro4015Ser)
|
rs367750334
|
0.00004
|
NM_031935.3(HMCN1):c.12149G>A (p.Arg4050Gln)
|
rs565996021
|
0.00004
|
NM_031935.3(HMCN1):c.12355A>G (p.Ile4119Val)
|
rs146177894
|
0.00004
|
NM_031935.3(HMCN1):c.13637G>A (p.Gly4546Glu)
|
rs202140956
|
0.00004
|
NM_031935.3(HMCN1):c.14814A>G (p.Ala4938=)
|
rs764895427
|
0.00004
|
NM_031935.3(HMCN1):c.15182C>T (p.Ala5061Val)
|
rs754953588
|
0.00004
|
NM_031935.3(HMCN1):c.15689-7T>C
|
rs370901552
|
0.00004
|
NM_031935.3(HMCN1):c.1900T>C (p.Ser634Pro)
|
rs779907065
|
0.00004
|
NM_031935.3(HMCN1):c.3048+12A>G
|
rs759007264
|
0.00004
|
NM_031935.3(HMCN1):c.3245C>T (p.Ser1082Phe)
|
rs369263478
|
0.00004
|
NM_031935.3(HMCN1):c.3999T>A (p.Asn1333Lys)
|
rs575710648
|
0.00004
|
NM_031935.3(HMCN1):c.4223A>C (p.Gln1408Pro)
|
rs201953947
|
0.00004
|
NM_031935.3(HMCN1):c.4772G>A (p.Ser1591Asn)
|
rs140480677
|
0.00004
|
NM_031935.3(HMCN1):c.498+15A>C
|
rs565661847
|
0.00004
|
NM_031935.3(HMCN1):c.5749+6G>A
|
rs575776317
|
0.00004
|
NM_031935.3(HMCN1):c.6435G>A (p.Leu2145=)
|
rs747509922
|
0.00004
|
NM_031935.3(HMCN1):c.6701-4G>C
|
rs780518184
|
0.00004
|
NM_031935.3(HMCN1):c.7160T>C (p.Ile2387Thr)
|
rs536019281
|
0.00004
|
NM_031935.3(HMCN1):c.8485+14C>T
|
rs201345841
|
0.00004
|
NM_031935.3(HMCN1):c.8776C>T (p.Arg2926Ter)
|
rs142475663
|
0.00004
|
NM_031935.3(HMCN1):c.9057T>A (p.Thr3019=)
|
rs745727347
|
0.00004
|
NM_031935.3(HMCN1):c.9446-10T>A
|
rs753374697
|
0.00004
|
NM_031935.3(HMCN1):c.9637C>T (p.Arg3213Trp)
|
rs1404028877
|
0.00004
|
NM_031935.3(HMCN1):c.9941C>T (p.Thr3314Met)
|
rs367681878
|
0.00004
|
NM_000041.4(APOE):c.249C>T (p.Asp83=)
|
rs767980905
|
0.00003
|
NM_000063.6(C2):c.*286T>C
|
rs948285998
|
0.00003
|
NM_000064.4(C3):c.3702C>T (p.Ser1234=)
|
rs754607975
|
0.00003
|
NM_000064.4(C3):c.4029G>A (p.Ser1343=)
|
rs190354796
|
0.00003
|
NM_000064.4(C3):c.4177C>T (p.Arg1393Trp)
|
rs148227405
|
0.00003
|
NM_000064.4(C3):c.4350+7C>A
|
rs148695501
|
0.00003
|
NM_000064.4(C3):c.4457-13C>T
|
rs375382978
|
0.00003
|
NM_000064.4(C3):c.4546+18G>A
|
rs377076572
|
0.00003
|
NM_000064.4(C3):c.48C>A (p.His16Gln)
|
rs184455094
|
0.00003
|
NM_000064.4(C3):c.4906G>C (p.Glu1636Gln)
|
rs139388954
|
0.00003
|
NM_000186.4(CFH):c.2868G>A (p.Thr956=)
|
rs533238588
|
0.00003
|
NM_000186.4(CFH):c.526T>C (p.Phe176Leu)
|
rs762132970
|
0.00003
|
NM_000186.4(CFH):c.647T>C (p.Ile216Thr)
|
rs183474263
|
0.00003
|
NM_000186.4(CFH):c.770G>A (p.Arg257His)
|
rs140107330
|
0.00003
|
NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly)
|
rs543703718
|
0.00003
|
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln)
|
rs554945964
|
0.00003
|
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)
|
rs61748556
|
0.00003
|
NM_000350.3(ABCA4):c.1937+1G>A
|
rs61752401
|
0.00003
|
NM_000350.3(ABCA4):c.3323G>A (p.Arg1108His)
|
rs61750121
|
0.00003
|
NM_000350.3(ABCA4):c.3670T>G (p.Cys1224Gly)
|
rs762213896
|
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.4773G>T (p.Gly1591=)
|
rs751844313
|
0.00003
|
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)
|
rs61750155
|
0.00003
|
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)
|
rs61751404
|
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.5819T>C (p.Leu1940Pro)
|
rs61753033
|
0.00003
|
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val)
|
rs61748521
|
0.00003
|
NM_000539.3(RHO):c.361G>A (p.Gly121Ser)
|
rs771637224
|
0.00003
|
NM_001319074.4(RAX2):c.*1523T>C
|
rs775609621
|
0.00003
|
NM_001319074.4(RAX2):c.*248C>T
|
rs1418917467
|
0.00003
|
NM_001319074.4(RAX2):c.-269+8C>T
|
rs886054370
|
0.00003
|
NM_001319074.4(RAX2):c.385G>A (p.Val129Met)
|
rs758285438
|
0.00003
|
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter)
|
rs724159971
|
0.00003
|
NM_001371596.2(MFSD8):c.343G>A (p.Val115Met)
|
rs183450731
|
0.00003
|
NM_001371596.2(MFSD8):c.652G>A (p.Ala218Thr)
|
rs368614789
|
0.00003
|
NM_001371596.2(MFSD8):c.754+2T>A
|
rs587778809
|
0.00003
|
NM_001710.6(CFB):c.-3G>A
|
rs755016493
|
0.00003
|
NM_002775.5(HTRA1):c.820C>T (p.Arg274Trp)
|
rs748074236
|
0.00003
|
NM_006017.3(PROM1):c.1301+10T>A
|
rs192338518
|
0.00003
|
NM_006017.3(PROM1):c.1301+11C>A
|
rs189953160
|
0.00003
|
NM_006017.3(PROM1):c.1450A>G (p.Met484Val)
|
rs574974703
|
0.00003
|
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu)
|
rs761911901
|
0.00003
|
NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro)
|
rs368515078
|
0.00003
|
NM_006017.3(PROM1):c.276+15G>T
|
rs766012920
|
0.00003
|
NM_006329.4(FBLN5):c.*458T>C
|
rs886050887
|
0.00003
|
NM_019098.5(CNGB3):c.*1476T>A
|
rs914165933
|
0.00003
|
NM_022726.4(ELOVL4):c.-235C>T
|
rs886061804
|
0.00003
|
NM_031935.3(HMCN1):c.-121A>G
|
rs1413424553
|
0.00003
|
NM_031935.3(HMCN1):c.-156G>A
|
rs886045657
|
0.00003
|
NM_031935.3(HMCN1):c.11191G>A (p.Val3731Ile)
|
rs773110395
|
0.00003
|
NM_031935.3(HMCN1):c.12320C>T (p.Pro4107Leu)
|
rs766042341
|
0.00003
|
NM_031935.3(HMCN1):c.12876A>G (p.Thr4292=)
|
rs886045684
|
0.00003
|
NM_031935.3(HMCN1):c.15283G>A (p.Gly5095Arg)
|
rs373876634
|
0.00003
|
NM_031935.3(HMCN1):c.15746G>A (p.Arg5249His)
|
rs766387783
|
0.00003
|
NM_031935.3(HMCN1):c.2098+12C>A
|
rs776336811
|
0.00003
|
NM_031935.3(HMCN1):c.2266C>T (p.Leu756Phe)
|
rs754608294
|
0.00003
|
NM_031935.3(HMCN1):c.3278C>A (p.Ala1093Glu)
|
rs373402377
|
0.00003
|
NM_031935.3(HMCN1):c.3524G>A (p.Arg1175His)
|
rs527332989
|
0.00003
|
NM_031935.3(HMCN1):c.3684C>T (p.Ile1228=)
|
rs566865273
|
0.00003
|
NM_031935.3(HMCN1):c.4090A>C (p.Lys1364Gln)
|
rs777994384
|
0.00003
|
NM_031935.3(HMCN1):c.4910-14A>G
|
rs767012387
|
0.00003
|
NM_031935.3(HMCN1):c.5669T>C (p.Leu1890Ser)
|
rs199971679
|
0.00003
|
NM_031935.3(HMCN1):c.5852-12T>G
|
rs373816059
|
0.00003
|
NM_031935.3(HMCN1):c.7079G>A (p.Arg2360His)
|
rs559595305
|
0.00003
|
NM_031935.3(HMCN1):c.8139+7C>A
|
rs201246528
|
0.00003
|
NM_133497.4(KCNV2):c.357dup (p.Lys120fs)
|
rs1402837406
|
0.00003
|
NM_000041.4(APOE):c.688G>A (p.Glu230Lys)
|
rs567353589
|
0.00002
|
NM_000063.6(C2):c.849+59G>A
|
rs764825466
|
0.00002
|
NM_000063.6(C2):c.988+5G>A
|
rs780974763
|
0.00002
|
NM_000064.4(C3):c.1303G>A (p.Glu435Lys)
|
rs774826179
|
0.00002
|
NM_000064.4(C3):c.1479+13C>G
|
rs368352750
|
0.00002
|
NM_000064.4(C3):c.1685C>T (p.Ser562Leu)
|
rs200541526
|
0.00002
|
NM_000064.4(C3):c.1835C>T (p.Thr612Met)
|
rs201572752
|
0.00002
|
NM_000064.4(C3):c.283G>A (p.Glu95Lys)
|
rs746332934
|
0.00002
|
NM_000064.4(C3):c.3015G>T (p.Val1005=)
|
rs1340489185
|
0.00002
|
NM_000064.4(C3):c.3411C>T (p.Asn1137=)
|
rs753019751
|
0.00002
|
NM_000064.4(C3):c.3449C>G (p.Ser1150Trp)
|
rs1178318400
|
0.00002
|
NM_000064.4(C3):c.3647-13A>G
|
rs760807491
|
0.00002
|
NM_000064.4(C3):c.4484C>T (p.Pro1495Leu)
|
rs368362113
|
0.00002
|
NM_000186.4(CFH):c.122C>T (p.Thr41Ile)
|
rs1192717326
|
0.00002
|
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala)
|
rs570523689
|
0.00002
|
NM_000186.4(CFH):c.16A>G (p.Lys6Glu)
|
rs749875053
|
0.00002
|
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)
|
rs150694809
|
0.00002
|
NM_000186.4(CFH):c.1913A>G (p.Asn638Ser)
|
rs755928805
|
0.00002
|
NM_000186.4(CFH):c.2278A>T (p.Ile760Leu)
|
rs772553879
|
0.00002
|
NM_000186.4(CFH):c.2424A>G (p.Ile808Met)
|
rs752302466
|
0.00002
|
NM_000186.4(CFH):c.2427A>G (p.Gln809=)
|
rs758809077
|
0.00002
|
NM_000186.4(CFH):c.2456A>G (p.Asn819Ser)
|
rs781393769
|
0.00002
|
NM_000186.4(CFH):c.2639C>T (p.Thr880Ile)
|
rs186711438
|
0.00002
|
NM_000186.4(CFH):c.2900G>A (p.Gly967Glu)
|
rs375951438
|
0.00002
|
NM_000186.4(CFH):c.3156C>T (p.Pro1052=)
|
rs764539113
|
0.00002
|
NM_000186.4(CFH):c.33G>T (p.Met11Ile)
|
rs779670935
|
0.00002
|
NM_000186.4(CFH):c.906C>G (p.Thr302=)
|
rs148552495
|
0.00002
|
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val)
|
rs55732384
|
0.00002
|
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)
|
rs61749409
|
0.00002
|
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)
|
rs145961131
|
0.00002
|
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp)
|
rs61749446
|
0.00002
|
NM_000350.3(ABCA4):c.2932G>A (p.Gly978Ser)
|
rs61749452
|
0.00002
|
NM_000350.3(ABCA4):c.303-3C>T
|
rs777945195
|
0.00002
|
NM_000350.3(ABCA4):c.3050+5G>A
|
rs61751262
|
0.00002
|
NM_000350.3(ABCA4):c.3056C>T (p.Thr1019Met)
|
rs201855602
|
0.00002
|
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys)
|
rs61751399
|
0.00002
|
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter)
|
rs61752427
|
0.00002
|
NM_000350.3(ABCA4):c.4140G>A (p.Pro1380=)
|
rs139109485
|
0.00002
|
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg)
|
rs281865402
|
0.00002
|
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)
|
rs777415466
|
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.6647C>T (p.Ala2216Val)
|
rs886044763
|
0.00002
|
NM_000350.3(ABCA4):c.885del (p.Leu296fs)
|
rs764759172
|
0.00002
|
NM_001319074.4(RAX2):c.*195G>A
|
rs1449281671
|
0.00002
|
NM_001319074.4(RAX2):c.*918G>A
|
rs748630795
|
0.00002
|
NM_001371596.2(MFSD8):c.1107G>C (p.Leu369Phe)
|
rs747197852
|
0.00002
|
NM_001371596.2(MFSD8):c.553+20C>T
|
rs542955531
|
0.00002
|
NM_006017.3(PROM1):c.1377C>T (p.Gly459=)
|
rs779072238
|
0.00002
|
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys)
|
rs536622788
|
0.00002
|
NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser)
|
rs372632641
|
0.00002
|
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala)
|
rs747844753
|
0.00002
|
NM_006017.3(PROM1):c.792G>A (p.Lys264=)
|
rs776605111
|
0.00002
|
NM_006329.4(FBLN5):c.-458G>A
|
rs369441736
|
0.00002
|
NM_006329.4(FBLN5):c.178G>C (p.Val60Leu)
|
rs121434299
|
0.00002
|
NM_006329.4(FBLN5):c.212G>A (p.Arg71Gln)
|
rs121434300
|
0.00002
|
NM_019098.5(CNGB3):c.*183A>C
|
rs1199541859
|
0.00002
|
NM_022726.4(ELOVL4):c.*1193T>C
|
rs975960939
|
0.00002
|
NM_031935.3(HMCN1):c.12464G>C (p.Gly4155Ala)
|
rs537694143
|
0.00002
|
NM_031935.3(HMCN1):c.12963G>C (p.Glu4321Asp)
|
rs773577908
|
0.00002
|
NM_031935.3(HMCN1):c.15320-7C>T
|
rs745639179
|
0.00002
|
NM_031935.3(HMCN1):c.15366C>A (p.His5122Gln)
|
rs370909774
|
0.00002
|
NM_031935.3(HMCN1):c.15561G>T (p.Gly5187=)
|
rs373603132
|
0.00002
|
NM_031935.3(HMCN1):c.16295-9C>T
|
rs760760319
|
0.00002
|
NM_031935.3(HMCN1):c.1956C>T (p.Ile652=)
|
rs766591582
|
0.00002
|
NM_031935.3(HMCN1):c.2436A>C (p.Leu812Phe)
|
rs367914815
|
0.00002
|
NM_031935.3(HMCN1):c.4647A>G (p.Lys1549=)
|
rs146365142
|
0.00002
|
NM_031935.3(HMCN1):c.7078C>T (p.Arg2360Cys)
|
rs779454634
|
0.00002
|
NM_031935.3(HMCN1):c.7955C>T (p.Ala2652Val)
|
rs200327975
|
0.00002
|
NM_031935.3(HMCN1):c.8313C>G (p.Leu2771=)
|
rs776416150
|
0.00002
|
NM_031935.3(HMCN1):c.8489G>A (p.Gly2830Glu)
|
rs749154171
|
0.00002
|
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile)
|
rs200871004
|
0.00002
|
NM_031935.3(HMCN1):c.9047-12A>G
|
rs767424930
|
0.00002
|
NM_031935.3(HMCN1):c.9081A>G (p.Val3027=)
|
rs573229310
|
0.00002
|
NM_031935.3(HMCN1):c.9685A>G (p.Met3229Val)
|
rs779147330
|
0.00002
|
NM_000041.4(APOE):c.127C>T (p.Arg43Cys)
|
rs121918399
|
0.00001
|
NM_000063.6(C2):c.1082C>T (p.Thr361Met)
|
rs61730574
|
0.00001
|
NM_000063.6(C2):c.1835G>A (p.Ser612Asn)
|
rs573509224
|
0.00001
|
NM_000063.6(C2):c.283T>G (p.Phe95Val)
|
rs201023669
|
0.00001
|
NM_000063.6(C2):c.819C>T (p.Phe273=)
|
rs886360667
|
0.00001
|
NM_000064.4(C3):c.1042A>G (p.Ile348Val)
|
rs141737564
|
0.00001
|
NM_000064.4(C3):c.1047G>C (p.Val349=)
|
rs747191565
|
0.00001
|
NM_000064.4(C3):c.1296G>A (p.Ser432=)
|
rs760150621
|
0.00001
|
NM_000064.4(C3):c.1433G>T (p.Arg478Leu)
|
rs747968673
|
0.00001
|
NM_000064.4(C3):c.1491G>A (p.Lys497=)
|
rs768360920
|
0.00001
|
NM_000064.4(C3):c.1887G>A (p.Pro629=)
|
rs747150559
|
0.00001
|
NM_000064.4(C3):c.1999G>A (p.Ala667Thr)
|
rs199535288
|
0.00001
|
NM_000064.4(C3):c.2118G>A (p.Ser706=)
|
rs755973774
|
0.00001
|
NM_000064.4(C3):c.2441-6G>A
|
rs752216964
|
0.00001
|
NM_000064.4(C3):c.2583+13G>A
|
rs774609150
|
0.00001
|
NM_000064.4(C3):c.2583+9C>T
|
rs372400121
|
0.00001
|
NM_000064.4(C3):c.2646C>T (p.His882=)
|
rs377316231
|
0.00001
|
NM_000064.4(C3):c.2793C>T (p.Val931=)
|
rs781226831
|
0.00001
|
NM_000064.4(C3):c.3242A>G (p.Tyr1081Cys)
|
rs531259592
|
0.00001
|
NM_000064.4(C3):c.3400C>T (p.Arg1134Trp)
|
rs138900723
|
0.00001
|
NM_000064.4(C3):c.3401G>A (p.Arg1134Gln)
|
rs777904423
|
0.00001
|
NM_000064.4(C3):c.3489+18T>C
|
rs747517809
|
0.00001
|
NM_000064.4(C3):c.3546C>T (p.Asn1182=)
|
rs189353964
|
0.00001
|
NM_000064.4(C3):c.3593A>G (p.Gln1198Arg)
|
rs372976419
|
0.00001
|
NM_000064.4(C3):c.3754G>A (p.Val1252Ile)
|
rs537300095
|
0.00001
|
NM_000064.4(C3):c.3757G>A (p.Val1253Met)
|
rs769164285
|
0.00001
|
NM_000064.4(C3):c.3970-15C>G
|
rs1233140401
|
0.00001
|
NM_000064.4(C3):c.3993A>G (p.Thr1331=)
|
rs202210310
|
0.00001
|
NM_000064.4(C3):c.4121-4C>T
|
rs747452882
|
0.00001
|
NM_000064.4(C3):c.4155C>T (p.Ile1385=)
|
rs563352895
|
0.00001
|
NM_000064.4(C3):c.4348A>C (p.Lys1450Gln)
|
rs191489530
|
0.00001
|
NM_000064.4(C3):c.443G>A (p.Arg148Gln)
|
rs886054657
|
0.00001
|
NM_000064.4(C3):c.452C>G (p.Thr151Ser)
|
rs1968082456
|
0.00001
|
NM_000064.4(C3):c.4631-6C>T
|
rs775109096
|
0.00001
|
NM_000064.4(C3):c.4665C>G (p.Ser1555=)
|
rs542668902
|
0.00001
|
NM_000064.4(C3):c.4759C>T (p.Pro1587Ser)
|
rs746985605
|
0.00001
|
NM_000064.4(C3):c.4850+12C>A
|
rs748416799
|
0.00001
|
NM_000064.4(C3):c.4941G>A (p.Gln1647=)
|
rs780251209
|
0.00001
|
NM_000064.4(C3):c.899T>C (p.Val300Ala)
|
rs756370451
|
0.00001
|
NM_000064.4(C3):c.976G>A (p.Val326Met)
|
rs375264020
|
0.00001
|
NM_000186.4(CFH):c.*14G>A
|
rs463726
|
0.00001
|
NM_000186.4(CFH):c.100A>T (p.Thr34Ser)
|
rs1389897706
|
0.00001
|
NM_000186.4(CFH):c.1357A>T (p.Ile453Leu)
|
rs1450633243
|
0.00001
|
NM_000186.4(CFH):c.1474A>G (p.Ile492Val)
|
rs892717090
|
0.00001
|
NM_000186.4(CFH):c.157C>T (p.Arg53Cys)
|
rs757785149
|
0.00001
|
NM_000186.4(CFH):c.1612G>C (p.Asp538His)
|
rs778051521
|
0.00001
|
NM_000186.4(CFH):c.1697-3A>C
|
rs778174105
|
0.00001
|
NM_000186.4(CFH):c.1744C>T (p.Arg582Cys)
|
rs144696019
|
0.00001
|
NM_000186.4(CFH):c.1745G>A (p.Arg582His)
|
rs138890387
|
0.00001
|
NM_000186.4(CFH):c.1864A>G (p.Ile622Val)
|
rs990484984
|
0.00001
|
NM_000186.4(CFH):c.1934C>T (p.Thr645Met)
|
rs749232210
|
0.00001
|
NM_000186.4(CFH):c.2047G>A (p.Val683Met)
|
rs573295841
|
0.00001
|
NM_000186.4(CFH):c.2151C>A (p.Phe717Leu)
|
rs763441589
|
0.00001
|
NM_000186.4(CFH):c.2236+10C>G
|
rs755790229
|
0.00001
|
NM_000186.4(CFH):c.2314G>A (p.Asp772Asn)
|
rs374704701
|
0.00001
|
NM_000186.4(CFH):c.2416G>T (p.Ala806Ser)
|
rs753331225
|
0.00001
|
NM_000186.4(CFH):c.2542G>A (p.Gly848Arg)
|
rs886045746
|
0.00001
|
NM_000186.4(CFH):c.2753G>A (p.Gly918Glu)
|
rs1408179720
|
0.00001
|
NM_000186.4(CFH):c.2784C>A (p.Gly928=)
|
rs755926856
|
0.00001
|
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser)
|
rs149938052
|
0.00001
|
NM_000186.4(CFH):c.2946A>G (p.Pro982=)
|
rs553471643
|
0.00001
|
NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly)
|
rs1366929531
|
0.00001
|
NM_000186.4(CFH):c.3134-7T>C
|
rs779166622
|
0.00001
|
NM_000186.4(CFH):c.3357C>G (p.Asp1119Glu)
|
rs1408795010
|
0.00001
|
NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe)
|
rs771435716
|
0.00001
|
NM_000186.4(CFH):c.3581G>A (p.Gly1194Asp)
|
rs761877050
|
0.00001
|
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)
|
rs460184
|
0.00001
|
NM_000186.4(CFH):c.496C>T (p.Arg166Trp)
|
rs746222626
|
0.00001
|
NM_000186.4(CFH):c.506A>G (p.His169Arg)
|
rs768647508
|
0.00001
|
NM_000186.4(CFH):c.524G>C (p.Arg175Pro)
|
rs139360826
|
0.00001
|
NM_000186.4(CFH):c.727T>C (p.Tyr243His)
|
rs748692496
|
0.00001
|
NM_000186.4(CFH):c.849A>G (p.Lys283=)
|
rs771886590
|
0.00001
|
NM_000186.4(CFH):c.879G>A (p.Gln293=)
|
rs769615121
|
0.00001
|
NM_000186.4(CFH):c.889G>A (p.Gly297Ser)
|
rs764573258
|
0.00001
|
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)
|
rs61755771
|
0.00001
|
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)
|
rs61755783
|
0.00001
|
NM_000322.5(PRPH2):c.638G>A (p.Cys213Tyr)
|
rs61755803
|
0.00001
|
NM_000322.5(PRPH2):c.683C>T (p.Thr228Ile)
|
rs369507460
|
0.00001
|
NM_000322.5(PRPH2):c.828+3A>T
|
rs281865373
|
0.00001
|
NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu)
|
rs886044724
|
0.00001
|
NM_000350.3(ABCA4):c.1239+1G>C
|
rs765707028
|
0.00001
|
NM_000350.3(ABCA4):c.1293G>A (p.Trp431Ter)
|
rs886044725
|
0.00001
|
NM_000350.3(ABCA4):c.1335C>G (p.Ser445Arg)
|
rs61748552
|
0.00001
|
NM_000350.3(ABCA4):c.1364T>A (p.Leu455Gln)
|
rs1366296798
|
0.00001
|
NM_000350.3(ABCA4):c.1584C>A (p.Tyr528Ter)
|
rs886044727
|
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.1761-2A>G
|
rs754765164
|
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.1903C>T (p.Gln635Ter)
|
rs61749414
|
0.00001
|
NM_000350.3(ABCA4):c.1938-1G>A
|
rs61751263
|
0.00001
|
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys)
|
rs61749420
|
0.00001
|
NM_000350.3(ABCA4):c.1A>G (p.Met1Val)
|
rs201738997
|
0.00001
|
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile)
|
rs575453437
|
0.00001
|
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu)
|
rs62654397
|
0.00001
|
NM_000350.3(ABCA4):c.214G>A (p.Gly72Arg)
|
rs61751412
|
0.00001
|
NM_000350.3(ABCA4):c.2160+1G>T
|
rs61749427
|
0.00001
|
NM_000350.3(ABCA4):c.223T>G (p.Cys75Gly)
|
rs61748526
|
0.00001
|
NM_000350.3(ABCA4):c.2291G>A (p.Cys764Tyr)
|
rs61749428
|
0.00001
|
NM_000350.3(ABCA4):c.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.2564G>A (p.Trp855Ter)
|
rs61752406
|
0.00001
|
NM_000350.3(ABCA4):c.2609C>T (p.Pro870Leu)
|
rs746566873
|
0.00001
|
NM_000350.3(ABCA4):c.2744-402G>A
|
rs1251023127
|
0.00001
|
NM_000350.3(ABCA4):c.2779C>T (p.Pro927Ser)
|
rs985690206
|
0.00001
|
NM_000350.3(ABCA4):c.2919-10T>C
|
rs886044733
|
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.3163C>T (p.Arg1055Trp)
|
rs61752412
|
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.3482G>A (p.Arg1161His)
|
rs768278935
|
0.00001
|
NM_000350.3(ABCA4):c.3523-1G>A
|
rs766239144
|
0.00001
|
NM_000350.3(ABCA4):c.3900A>G (p.Arg1300=)
|
rs886044739
|
0.00001
|
NM_000350.3(ABCA4):c.4069G>A (p.Ala1357Thr)
|
rs754899711
|
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+5G>A
|
rs61750138
|
0.00001
|
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu)
|
rs62646860
|
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.4436G>A (p.Trp1479Ter)
|
rs61752434
|
0.00001
|
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg)
|
rs61750146
|
0.00001
|
NM_000350.3(ABCA4):c.4463G>T (p.Cys1488Phe)
|
rs61750147
|
0.00001
|
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)
|
rs62646861
|
0.00001
|
NM_000350.3(ABCA4):c.4748T>C (p.Leu1583Pro)
|
rs61750153
|
0.00001
|
NM_000350.3(ABCA4):c.4765G>A (p.Val1589Met)
|
rs767980304
|
0.00001
|
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)
|
rs61751403
|
0.00001
|
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)
|
rs61753017
|
0.00001
|
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)
|
rs1211325812
|
0.00001
|
NM_000350.3(ABCA4):c.5018+2T>C
|
rs61750562
|
0.00001
|
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp)
|
rs771038310
|
0.00001
|
NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys)
|
rs374343397
|
0.00001
|
NM_000350.3(ABCA4):c.5196+1G>A
|
rs61751377
|
0.00001
|
NM_000350.3(ABCA4):c.5209G>A (p.Val1737Met)
|
rs761017794
|
0.00001
|
NM_000350.3(ABCA4):c.5305C>A (p.Leu1769Met)
|
rs1274228304
|
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.5327C>T (p.Pro1776Leu)
|
rs1553187939
|
0.00001
|
NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val)
|
rs1188515677
|
0.00001
|
NM_000350.3(ABCA4):c.5463G>A (p.Thr1821=)
|
rs367857935
|
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.5645T>C (p.Met1882Thr)
|
rs780817685
|
0.00001
|
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile)
|
rs1208195953
|
0.00001
|
NM_000350.3(ABCA4):c.5973G>C (p.Val1991=)
|
rs886044757
|
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.6230G>A (p.Arg2077Gln)
|
rs886044759
|
0.00001
|
NM_000350.3(ABCA4):c.6282+1G>C
|
rs770453727
|
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.6445C>T (p.Arg2149Ter)
|
rs61750654
|
0.00001
|
NM_000350.3(ABCA4):c.6563T>C (p.Phe2188Ser)
|
rs61750658
|
0.00001
|
NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys)
|
rs61748538
|
0.00001
|
NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter)
|
rs372234578
|
0.00001
|
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)
|
rs781716640
|
0.00001
|
NM_001099667.3(ARMS2):c.*313G>C
|
rs1237612173
|
0.00001
|
NM_001099667.3(ARMS2):c.23C>T (p.Pro8Leu)
|
rs778271975
|
0.00001
|
NM_001319074.4(RAX2):c.*1490A>G
|
rs1432848167
|
0.00001
|
NM_001319074.4(RAX2):c.*552C>T
|
rs760554835
|
0.00001
|
NM_001319074.4(RAX2):c.*667G>A
|
rs1477435359
|
0.00001
|
NM_001319074.4(RAX2):c.*679C>T
|
rs576669713
|
0.00001
|
NM_001319074.4(RAX2):c.*687A>G
|
rs1208248243
|
0.00001
|
NM_001319074.4(RAX2):c.*972T>A
|
rs886054366
|
0.00001
|
NM_001319074.4(RAX2):c.134C>T (p.Ala45Val)
|
rs775581464
|
0.00001
|
NM_001319074.4(RAX2):c.19G>A (p.Glu7Lys)
|
rs556179949
|
0.00001
|
NM_001319074.4(RAX2):c.217-10C>T
|
rs772762463
|
0.00001
|
NM_001319074.4(RAX2):c.320C>T (p.Pro107Leu)
|
rs774846243
|
0.00001
|
NM_001319074.4(RAX2):c.446A>G (p.His149Arg)
|
rs1230148971
|
0.00001
|
NM_001319074.4(RAX2):c.49G>C (p.Gly17Arg)
|
rs766488722
|
0.00001
|
NM_001371596.2(MFSD8):c.103C>T (p.Arg35Ter)
|
rs749315686
|
0.00001
|
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter)
|
rs724159970
|
0.00001
|
NM_001371596.2(MFSD8):c.1235C>T (p.Pro412Leu)
|
rs267607235
|
0.00001
|
NM_001371596.2(MFSD8):c.670A>T (p.Asn224Tyr)
|
rs1156864297
|
0.00001
|
NM_001371596.2(MFSD8):c.863C>T (p.Thr288Ile)
|
rs755384900
|
0.00001
|
NM_006017.3(PROM1):c.*198T>C
|
rs1713762475
|
0.00001
|
NM_006017.3(PROM1):c.*681C>G
|
rs947805890
|
0.00001
|
NM_006017.3(PROM1):c.*781G>A
|
rs1713636052
|
0.00001
|
NM_006017.3(PROM1):c.*963A>G
|
rs886059196
|
0.00001
|
NM_006017.3(PROM1):c.*985C>G
|
rs937617123
|
0.00001
|
NM_006017.3(PROM1):c.-148G>A
|
rs75531222
|
0.00001
|
NM_006017.3(PROM1):c.1002+5G>A
|
rs1196489060
|
0.00001
|
NM_006017.3(PROM1):c.1142-1G>A
|
rs752619497
|
0.00001
|
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter)
|
rs886037880
|
0.00001
|
NM_006017.3(PROM1):c.1387T>C (p.Tyr463His)
|
rs1297490531
|
0.00001
|
NM_006017.3(PROM1):c.1578+9G>C
|
rs747638667
|
0.00001
|
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=)
|
rs201644238
|
0.00001
|
NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe)
|
rs886059201
|
0.00001
|
NM_006017.3(PROM1):c.1738A>C (p.Asn580His)
|
rs199674847
|
0.00001
|
NM_006017.3(PROM1):c.1984-1G>T
|
rs373680665
|
0.00001
|
NM_006017.3(PROM1):c.2309C>A (p.Pro770His)
|
rs568361529
|
0.00001
|
NM_006017.3(PROM1):c.2327A>T (p.Asp776Val)
|
rs1033920857
|
0.00001
|
NM_006017.3(PROM1):c.2397A>G (p.Gly799=)
|
rs931618095
|
0.00001
|
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile)
|
rs201910962
|
0.00001
|
NM_006017.3(PROM1):c.400C>T (p.Arg134Cys)
|
rs768526003
|
0.00001
|
NM_006017.3(PROM1):c.677C>T (p.Ala226Val)
|
rs376198840
|
0.00001
|
NM_006017.3(PROM1):c.706G>A (p.Val236Met)
|
rs536161084
|
0.00001
|
NM_006329.4(FBLN5):c.*419G>C
|
rs1451509746
|
0.00001
|
NM_006329.4(FBLN5):c.*653G>A
|
rs886050886
|
0.00001
|
NM_006329.4(FBLN5):c.*775A>C
|
rs886050885
|
0.00001
|
NM_006329.4(FBLN5):c.*77T>A
|
rs1326922015
|
0.00001
|
NM_006329.4(FBLN5):c.-382C>G
|
rs886050890
|
0.00001
|
NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp)
|
rs372650987
|
0.00001
|
NM_006329.4(FBLN5):c.245A>C (p.Asn82Thr)
|
rs759508064
|
0.00001
|
NM_006329.4(FBLN5):c.251A>G (p.Tyr84Cys)
|
rs886050889
|
0.00001
|
NM_006329.4(FBLN5):c.336A>G (p.Ile112Met)
|
rs1221579102
|
0.00001
|
NM_006329.4(FBLN5):c.573A>G (p.Thr191=)
|
rs756288143
|
0.00001
|
NM_006329.4(FBLN5):c.676G>A (p.Gly226Ser)
|
rs747288805
|
0.00001
|
NM_019098.4(CNGB3):c.*1701C>T
|
rs886063154
|
0.00001
|
NM_019098.5(CNGB3):c.*1218C>T
|
rs1054383456
|
0.00001
|
NM_019098.5(CNGB3):c.*1368T>C
|
rs886063155
|
0.00001
|
NM_019098.5(CNGB3):c.*1431G>A
|
rs1337904740
|
0.00001
|
NM_019098.5(CNGB3):c.1160A>G (p.Tyr387Cys)
|
rs886063160
|
0.00001
|
NM_019098.5(CNGB3):c.1498A>G (p.Lys500Glu)
|
rs373679269
|
0.00001
|
NM_019098.5(CNGB3):c.1515G>A (p.Thr505=)
|
rs751667290
|
0.00001
|
NM_019098.5(CNGB3):c.168G>C (p.Lys56Asn)
|
rs1410218983
|
0.00001
|
NM_019098.5(CNGB3):c.2350C>T (p.Leu784Phe)
|
rs750535143
|
0.00001
|
NM_019098.5(CNGB3):c.460G>T (p.Asp154Tyr)
|
rs1823848358
|
0.00001
|
NM_019098.5(CNGB3):c.644-1G>C
|
rs201794629
|
0.00001
|
NM_019098.5(CNGB3):c.738C>T (p.Thr246=)
|
rs781628736
|
0.00001
|
NM_019098.5(CNGB3):c.773T>C (p.Ile258Thr)
|
rs886063162
|
0.00001
|
NM_021023.6(CFHR3):c.803G>T (p.Cys268Phe)
|
rs745503234
|
0.00001
|
NM_022726.4(ELOVL4):c.*125C>A
|
rs181283522
|
0.00001
|
NM_022726.4(ELOVL4):c.*240C>T
|
rs886061801
|
0.00001
|
NM_022726.4(ELOVL4):c.*309T>C
|
rs1034507611
|
0.00001
|
NM_022726.4(ELOVL4):c.*363G>A
|
rs1376229769
|
0.00001
|
NM_022726.4(ELOVL4):c.*606G>T
|
rs907879501
|
0.00001
|
NM_022726.4(ELOVL4):c.*803T>C
|
rs542722575
|
0.00001
|
NM_022726.4(ELOVL4):c.*905T>C
|
rs886061799
|
0.00001
|
NM_022726.4(ELOVL4):c.*950T>C
|
rs1458099165
|
0.00001
|
NM_022726.4(ELOVL4):c.*999A>G
|
rs1172216845
|
0.00001
|
NM_022726.4(ELOVL4):c.192A>C (p.Pro64=)
|
rs201014417
|
0.00001
|
NM_022726.4(ELOVL4):c.735A>G (p.Lys245=)
|
rs769435926
|
0.00001
|
NM_031935.3(HMCN1):c.*234G>A
|
rs564259144
|
0.00001
|
NM_031935.3(HMCN1):c.*902G>C
|
rs886045698
|
0.00001
|
NM_031935.3(HMCN1):c.10230G>A (p.Val3410=)
|
rs747892157
|
0.00001
|
NM_031935.3(HMCN1):c.10370G>A (p.Cys3457Tyr)
|
rs751358209
|
0.00001
|
NM_031935.3(HMCN1):c.10958T>C (p.Ile3653Thr)
|
rs746480984
|
0.00001
|
NM_031935.3(HMCN1):c.11006G>A (p.Arg3669Gln)
|
rs745313929
|
0.00001
|
NM_031935.3(HMCN1):c.11443G>A (p.Val3815Ile)
|
rs569383096
|
0.00001
|
NM_031935.3(HMCN1):c.1165T>C (p.Trp389Arg)
|
rs777770411
|
0.00001
|
NM_031935.3(HMCN1):c.12159T>G (p.Ala4053=)
|
rs752738056
|
0.00001
|
NM_031935.3(HMCN1):c.12189G>A (p.Pro4063=)
|
rs886045682
|
0.00001
|
NM_031935.3(HMCN1):c.12453C>A (p.Ala4151=)
|
rs1160639880
|
0.00001
|
NM_031935.3(HMCN1):c.12667G>A (p.Glu4223Lys)
|
rs1400175925
|
0.00001
|
NM_031935.3(HMCN1):c.1266C>G (p.Ser422=)
|
rs565658664
|
0.00001
|
NM_031935.3(HMCN1):c.1285+7C>T
|
rs753115471
|
0.00001
|
NM_031935.3(HMCN1):c.12986C>T (p.Thr4329Ile)
|
rs200984902
|
0.00001
|
NM_031935.3(HMCN1):c.13162G>A (p.Val4388Met)
|
rs563362752
|
0.00001
|
NM_031935.3(HMCN1):c.1338G>A (p.Pro446=)
|
rs763275429
|
0.00001
|
NM_031935.3(HMCN1):c.13925-10G>C
|
rs755762622
|
0.00001
|
NM_031935.3(HMCN1):c.14311C>T (p.Arg4771Trp)
|
rs768284133
|
0.00001
|
NM_031935.3(HMCN1):c.14896+8T>A
|
rs767566761
|
0.00001
|
NM_031935.3(HMCN1):c.15076C>T (p.Arg5026Trp)
|
rs536701183
|
0.00001
|
NM_031935.3(HMCN1):c.15371C>T (p.Ala5124Val)
|
rs767070754
|
0.00001
|
NM_031935.3(HMCN1):c.15421G>A (p.Asp5141Asn)
|
rs886045689
|
0.00001
|
NM_031935.3(HMCN1):c.15460G>A (p.Gly5154Ser)
|
rs777284205
|
0.00001
|
NM_031935.3(HMCN1):c.15685A>G (p.Met5229Val)
|
rs748823261
|
0.00001
|
NM_031935.3(HMCN1):c.16002C>T (p.Pro5334=)
|
rs373461955
|
0.00001
|
NM_031935.3(HMCN1):c.16573T>C (p.Leu5525=)
|
rs761197473
|
0.00001
|
NM_031935.3(HMCN1):c.16754A>C (p.Glu5585Ala)
|
rs771757920
|
0.00001
|
NM_031935.3(HMCN1):c.16793G>A (p.Arg5598Gln)
|
rs748032823
|
0.00001
|
NM_031935.3(HMCN1):c.2261T>G (p.Leu754Trp)
|
rs1046849931
|
0.00001
|
NM_031935.3(HMCN1):c.2656G>A (p.Gly886Arg)
|
rs368702685
|
0.00001
|
NM_031935.3(HMCN1):c.2670A>G (p.Pro890=)
|
rs201113609
|
0.00001
|
NM_031935.3(HMCN1):c.3172G>A (p.Gly1058Ser)
|
rs1418379831
|
0.00001
|
NM_031935.3(HMCN1):c.3307G>A (p.Val1103Met)
|
rs762631011
|
0.00001
|
NM_031935.3(HMCN1):c.3426T>C (p.Thr1142=)
|
rs886045668
|
0.00001
|
NM_031935.3(HMCN1):c.3437G>A (p.Gly1146Glu)
|
rs780422973
|
0.00001
|
NM_031935.3(HMCN1):c.4200+6T>C
|
rs759273685
|
0.00001
|
NM_031935.3(HMCN1):c.4446T>C (p.Phe1482=)
|
rs886045670
|
0.00001
|
NM_031935.3(HMCN1):c.4492G>A (p.Asp1498Asn)
|
rs762354666
|
0.00001
|
NM_031935.3(HMCN1):c.4543G>T (p.Ala1515Ser)
|
rs1332606772
|
0.00001
|
NM_031935.3(HMCN1):c.4565G>A (p.Arg1522His)
|
rs886045671
|
0.00001
|
NM_031935.3(HMCN1):c.5241G>T (p.Met1747Ile)
|
rs766434071
|
0.00001
|
NM_031935.3(HMCN1):c.5706C>T (p.Asn1902=)
|
rs769758485
|
0.00001
|
NM_031935.3(HMCN1):c.5875C>T (p.Arg1959Cys)
|
rs149920975
|
0.00001
|
NM_031935.3(HMCN1):c.6228C>T (p.Ser2076=)
|
rs777752487
|
0.00001
|
NM_031935.3(HMCN1):c.6249C>T (p.Cys2083=)
|
rs368334157
|
0.00001
|
NM_031935.3(HMCN1):c.6564T>G (p.Asn2188Lys)
|
rs1656752926
|
0.00001
|
NM_031935.3(HMCN1):c.6996C>G (p.Pro2332=)
|
rs767597600
|
0.00001
|
NM_031935.3(HMCN1):c.710G>T (p.Arg237Ile)
|
rs530178194
|
0.00001
|
NM_031935.3(HMCN1):c.7156A>G (p.Ile2386Val)
|
rs1167111929
|
0.00001
|
NM_031935.3(HMCN1):c.7426+15T>A
|
rs1198026867
|
0.00001
|
NM_031935.3(HMCN1):c.7589C>G (p.Ser2530Cys)
|
rs573119781
|
0.00001
|
NM_031935.3(HMCN1):c.793+9T>C
|
rs375021941
|
0.00001
|
NM_031935.3(HMCN1):c.7957G>A (p.Gly2653Arg)
|
rs1172387552
|
0.00001
|
NM_031935.3(HMCN1):c.8033G>C (p.Gly2678Ala)
|
rs577435610
|
0.00001
|
NM_031935.3(HMCN1):c.8150C>T (p.Ser2717Phe)
|
rs201586866
|
0.00001
|
NM_031935.3(HMCN1):c.856G>A (p.Val286Ile)
|
rs376875658
|
0.00001
|
NM_031935.3(HMCN1):c.8652G>C (p.Val2884=)
|
rs1221324876
|
0.00001
|
NM_031935.3(HMCN1):c.880G>A (p.Ala294Thr)
|
rs886045662
|
0.00001
|
NM_031935.3(HMCN1):c.8929G>A (p.Val2977Met)
|
rs556443296
|
0.00001
|
NM_031935.3(HMCN1):c.8975C>T (p.Pro2992Leu)
|
rs574155244
|
0.00001
|
NM_031935.3(HMCN1):c.9127G>A (p.Glu3043Lys)
|
rs747230633
|
0.00001
|
NM_031935.3(HMCN1):c.9157T>C (p.Tyr3053His)
|
rs375407833
|
0.00001
|
NM_031935.3(HMCN1):c.9182A>G (p.His3061Arg)
|
rs748058327
|
0.00001
|
NM_031935.3(HMCN1):c.9406G>A (p.Ala3136Thr)
|
rs886045676
|
0.00001
|
NM_031935.3(HMCN1):c.9899A>G (p.Asn3300Ser)
|
rs146969586
|
0.00001
|
NM_201548.5(CERKL):c.678-1G>A
|
rs1209393896
|
0.00001
|
CX3CR1:c.[841G>A;935C>T] (p.Val294Ile;Thr280Met)
|
|
|
NC_000001.10:g.(196722206_?)_(?_196808505)del
|
|
|
NC_000010.11:g.122457305_122457748delinsTTATTAATTAATTAACTAAAATTAAATTATTTAGTTAATTTAATTAACTAAACT
|
rs2133900556
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NM_000063.5(C2):c.-37C>A
|
rs776263411
|
|
NM_000063.6(C2):c.*120T>C
|
rs886061294
|
|
NM_000063.6(C2):c.*183C>T
|
rs567255004
|
|
NM_000063.6(C2):c.-21G>A
|
rs764589447
|
|
NM_000063.6(C2):c.1066C>T (p.Leu356Phe)
|
rs886061293
|
|
NM_000063.6(C2):c.109C>T (p.Leu37Phe)
|
rs1310333522
|
|
NM_000063.6(C2):c.1239G>C (p.Val413=)
|
rs751253087
|
|
NM_000063.6(C2):c.149C>T (p.Ser50Phe)
|
rs1277611780
|
|
NM_000063.6(C2):c.1567+22_1567+43del
|
rs541057516
|
|
NM_000063.6(C2):c.1602T>C (p.Leu534=)
|
rs767886405
|
|
NM_000063.6(C2):c.2201G>T (p.Arg734Leu)
|
rs146067615
|
|
NM_000063.6(C2):c.313G>A (p.Gly105Arg)
|
rs886061292
|
|
NM_000063.6(C2):c.337G>A (p.Val113Met)
|
rs1769482101
|
|
NM_000063.6(C2):c.841_849+19del
|
rs9332736
|
|
NM_000063.6(C2):c.913C>T (p.Leu305Phe)
|
rs1562601398
|
|
NM_000064.3(C3):c.-75A>C
|
rs1316357912
|
|
NM_000064.4(C3):c.1269+14C>A
|
rs886054655
|
|
NM_000064.4(C3):c.1402G>A (p.Gly468Arg)
|
rs148820222
|
|
NM_000064.4(C3):c.1554C>A (p.Pro518=)
|
rs2230203
|
|
NM_000064.4(C3):c.1686+10C>T
|
rs776885748
|
|
NM_000064.4(C3):c.1686+48TC[8]
|
rs112132860
|
|
NM_000064.4(C3):c.1725T>C (p.Pro575=)
|
rs1967865144
|
|
NM_000064.4(C3):c.1775G>A (p.Arg592Gln)
|
rs121909583
|
|
NM_000064.4(C3):c.1920C>T (p.Ser640=)
|
rs139693406
|
|
NM_000064.4(C3):c.2326G>C (p.Glu776Gln)
|
rs2145417819
|
|
NM_000064.4(C3):c.2390A>C (p.Asp797Ala)
|
rs1967690681
|
|
NM_000064.4(C3):c.2429C>T (p.Ser810Leu)
|
rs781280055
|
|
NM_000064.4(C3):c.2440+116C>G
|
rs408290
|
|
NM_000064.4(C3):c.2441-24C>A
|
rs366510
|
|
NM_000064.4(C3):c.2584G>T (p.Val862Leu)
|
rs1967565745
|
|
NM_000064.4(C3):c.2617T>C (p.Cys873Arg)
|
rs1967565177
|
|
NM_000064.4(C3):c.267+9A>G
|
rs762058420
|
|
NM_000064.4(C3):c.2670C>G (p.Pro890=)
|
rs137956083
|
|
NM_000064.4(C3):c.2700C>G (p.Ile900Met)
|
rs763155610
|
|
NM_000064.4(C3):c.2857G>A (p.Gly953Ser)
|
rs779124363
|
|
NM_000064.4(C3):c.2863+15G>T
|
rs759976981
|
|
NM_000064.4(C3):c.2951-5_2951-3del
|
rs544122376
|
|
NM_000064.4(C3):c.3407A>G (p.Asn1136Ser)
|
rs1918144043
|
|
NM_000064.4(C3):c.3586C>T (p.Leu1196=)
|
rs1918019867
|
|
NM_000064.4(C3):c.373dup (p.Leu125fs)
|
rs1337559480
|
|
NM_000064.4(C3):c.3753C>A (p.Pro1251=)
|
rs2230209
|
|
NM_000064.4(C3):c.3793G>A (p.Gly1265Ser)
|
rs1918001974
|
|
NM_000064.4(C3):c.453C>T (p.Thr151=)
|
rs148870667
|
|
NM_000064.4(C3):c.4547-16C>G
|
rs1414347444
|
|
NM_000064.4(C3):c.4645C>A (p.Leu1549Met)
|
rs149202905
|
|
NM_000064.4(C3):c.4645C>T (p.Leu1549=)
|
rs149202905
|
|
NM_000064.4(C3):c.4867G>T (p.Gly1623Trp)
|
|
|
NM_000064.4(C3):c.4947C>T (p.Leu1649=)
|
|
|
NM_000064.4(C3):c.683-4C>G
|
rs377240996
|
|
NM_000064.4(C3):c.819C>T (p.Phe273=)
|
rs886054656
|
|
NM_000064.4(C3):c.965A>G (p.Lys322Arg)
|
rs746892541
|
|
NM_000064.4(C3):c.975C>T (p.Tyr325=)
|
rs1301665029
|
|
NM_000186.3(CFH):c.-124G>T
|
rs527444515
|
|
NM_000186.4(CFH):c.*127G>T
|
rs369221006
|
|
NM_000186.4(CFH):c.-61A>G
|
rs886045741
|
|
NM_000186.4(CFH):c.103G>A (p.Gly35Ser)
|
rs886045742
|
|
NM_000186.4(CFH):c.1419G>C (p.Ala473=)
|
rs2274700
|
|
NM_000186.4(CFH):c.1451C>T (p.Ala484Val)
|
rs1668781638
|
|
NM_000186.4(CFH):c.1511C>T (p.Thr504Met)
|
rs377008918
|
|
NM_000186.4(CFH):c.1617T>C (p.Gly539=)
|
|
|
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly)
|
rs757756991
|
|
NM_000186.4(CFH):c.1795C>A (p.Pro599Thr)
|
|
|
NM_000186.4(CFH):c.1935G>A (p.Thr645=)
|
rs56035657
|
|
NM_000186.4(CFH):c.1984A>G (p.Arg662Gly)
|
rs760174473
|
|
NM_000186.4(CFH):c.2030A>G (p.Glu677Gly)
|
|
|
NM_000186.4(CFH):c.2054T>C (p.Ile685Thr)
|
rs1431491220
|
|
NM_000186.4(CFH):c.2072G>C (p.Cys691Ser)
|
rs2149108610
|
|
NM_000186.4(CFH):c.213G>A (p.Trp71Ter)
|
rs1210674261
|
|
NM_000186.4(CFH):c.2215A>G (p.Thr739Ala)
|
rs886045745
|
|
NM_000186.4(CFH):c.245-10_245-9dup
|
rs35507625
|
|
NM_000186.4(CFH):c.245-11_245-9dup
|
rs35507625
|
|
NM_000186.4(CFH):c.245-9del
|
rs35507625
|
|
NM_000186.4(CFH):c.245-9dup
|
rs35507625
|
|
NM_000186.4(CFH):c.275C>T (p.Pro92Leu)
|
rs886045743
|
|
NM_000186.4(CFH):c.2763T>C (p.Ser921=)
|
rs1212658402
|
|
NM_000186.4(CFH):c.2783-3dup
|
rs748791414
|
|
NM_000186.4(CFH):c.2956+13G>A
|
rs572034879
|
|
NM_000186.4(CFH):c.3118A>G (p.Arg1040Gly)
|
|
|
NM_000186.4(CFH):c.3134-5T>C
|
rs513699
|
|
NM_000186.4(CFH):c.3138C>T (p.Thr1046=)
|
rs61822181
|
|
NM_000186.4(CFH):c.3169G>A (p.Ala1057Thr)
|
rs1652885970
|
|
NM_000186.4(CFH):c.318T>C (p.Tyr106=)
|
rs1448752091
|
|
NM_000186.4(CFH):c.3306C>G (p.Cys1102Trp)
|
|
|
NM_000186.4(CFH):c.3427C>G (p.Gln1143Glu)
|
rs15809
|
|
NM_000186.4(CFH):c.3446G>A (p.Arg1149Gln)
|
rs1064795727
|
|
NM_000186.4(CFH):c.3493C>T (p.His1165Tyr)
|
|
|
NM_000186.4(CFH):c.350+15C>T
|
rs190197472
|
|
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)
|
rs460897
|
|
NM_000186.4(CFH):c.497G>A (p.Arg166Gln)
|
rs770339409
|
|
NM_000186.4(CFH):c.497G>T (p.Arg166Leu)
|
rs770339409
|
|
NM_000186.4(CFH):c.752G>A (p.Cys251Tyr)
|
|
|
NM_000186.4(CFH):c.773C>T (p.Pro258Leu)
|
|
|
NM_000186.4(CFH):c.7C>G (p.Leu3Val)
|
rs139254423
|
|
NM_000322.5(PRPH2):c.113del (p.Gly38fs)
|
rs61755769
|
|
NM_000322.5(PRPH2):c.163del (p.Ser55fs)
|
rs1761917286
|
|
NM_000322.5(PRPH2):c.246C>A (p.Cys82Ter)
|
rs1242862941
|
|
NM_000322.5(PRPH2):c.259_266del (p.Asp87fs)
|
rs1554270834
|
|
NM_000322.5(PRPH2):c.310_313del (p.Ile104fs)
|
rs1761913253
|
|
NM_000322.5(PRPH2):c.318del (p.Leu107fs)
|
rs1761913048
|
|
NM_000322.5(PRPH2):c.394del (p.Gln132fs)
|
rs769723975
|
|
NM_000322.5(PRPH2):c.403A>G (p.Lys135Glu)
|
rs1761910611
|
|
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)
|
rs61755781
|
|
NM_000322.5(PRPH2):c.441del (p.Gly148fs)
|
rs61755784
|
|
NM_000322.5(PRPH2):c.458A>C (p.Lys153Thr)
|
rs61755785
|
|
NM_000322.5(PRPH2):c.458AGA[1] (p.Lys154del)
|
rs61755786
|
|
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn)
|
rs61755787
|
|
NM_000322.5(PRPH2):c.478C>T (p.Gln160Ter)
|
rs1582780550
|
|
NM_000322.5(PRPH2):c.483C>G (p.Ile161Met)
|
rs76989855
|
|
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser)
|
rs527236098
|
|
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)
|
rs61755792
|
|
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)
|
rs61755793
|
|
NM_000322.5(PRPH2):c.582-1G>A
|
rs1800118693
|
|
NM_000322.5(PRPH2):c.588_589dup (p.Lys197fs)
|
rs1800118385
|
|
NM_000322.5(PRPH2):c.612C>A (p.Tyr204Ter)
|
rs1554269081
|
|
NM_000322.5(PRPH2):c.614T>C (p.Leu205Pro)
|
rs1800117244
|
|
NM_000322.5(PRPH2):c.629C>G (p.Pro210Arg)
|
rs61755798
|
|
NM_000322.5(PRPH2):c.638G>C (p.Cys213Ser)
|
rs61755803
|
|
NM_000322.5(PRPH2):c.642C>A (p.Cys214Ter)
|
rs1388865786
|
|
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu)
|
rs986748364
|
|
NM_000322.5(PRPH2):c.665G>A (p.Cys222Tyr)
|
rs1442844778
|
|
NM_000322.5(PRPH2):c.708C>G (p.Tyr236Ter)
|
rs61755813
|
|
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)
|
rs61755814
|
|
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly)
|
rs542296728
|
|
NM_000322.5(PRPH2):c.748T>A (p.Cys250Ser)
|
rs1064793931
|
|
NM_000322.5(PRPH2):c.828+2T>C
|
rs1800108496
|
|
NM_000322.5(PRPH2):c.961G>T (p.Glu321Ter)
|
rs749391375
|
|
NM_000350.2(ABCA4):c.3210_3211insGT (p.Ser1071Valfs)
|
rs61750064
|
|
NM_000350.2(ABCA4):c.571_580dup
|
rs1662216783
|
|
NM_000350.2(ABCA4):c.[1622T>C;3113C>T]
|
|
|
NM_000350.2(ABCA4):c.[1A>G;6089G>A]
|
|
|
NM_000350.2(ABCA4):c.[2588G>C;3289A>T]
|
|
|
NM_000350.2(ABCA4):c.[2588G>C;5153T>G]
|
|
|
NM_000350.2(ABCA4):c.[2588G>C];[5882G>A]
|
|
|
NM_000350.2(ABCA4):c.[302+68C>T;4539+2028C>T]
|
|
|
NM_000350.2(ABCA4):c.[5381C>A;6148G>C]
|
|
|
NM_000350.2(ABCA4):c.[5512C>G;5882G>A]
|
|
|
NM_000350.2:c.(2918+765_2918+775)_(3328+618_3328+662)del
|
|
|
NM_000350.2:c.(6816+1_6817-1)_(*1_?)del
|
|
|
NM_000350.3(ABCA4):c.1018T>G (p.Tyr340Asp)
|
rs61748548
|
|
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs)
|
rs63749083
|
|
NM_000350.3(ABCA4):c.1086T>A (p.Tyr362Ter)
|
rs61752390
|
|
NM_000350.3(ABCA4):c.1172del (p.Lys391fs)
|
rs1570407032
|
|
NM_000350.3(ABCA4):c.1201A>T (p.Thr401Ser)
|
rs559674920
|
|
NM_000350.3(ABCA4):c.122G>A (p.Trp41Ter)
|
rs61751410
|
|
NM_000350.3(ABCA4):c.1240-65del
|
rs3215952
|
|
NM_000350.3(ABCA4):c.1248_1554+248del
|
|
|
NM_000350.3(ABCA4):c.1254T>A (p.Phe418Leu)
|
|
|
NM_000350.3(ABCA4):c.1267_1268inv (p.His423Cys)
|
|
|
NM_000350.3(ABCA4):c.1344del (p.Met448fs)
|
rs61748554
|
|
NM_000350.3(ABCA4):c.1356+4dup
|
rs1661600677
|
|
NM_000350.3(ABCA4):c.1357-2A>G
|
rs886044726
|
|
NM_000350.3(ABCA4):c.1391T>A (p.Leu464Ter)
|
rs2101101348
|
|
NM_000350.3(ABCA4):c.1454del (p.Gly485fs)
|
rs1661577361
|
|
NM_000350.3(ABCA4):c.1508T>C (p.Phe503Ser)
|
|
|
NM_000350.3(ABCA4):c.1555-2A>C
|
rs2101079462
|
|
NM_000350.3(ABCA4):c.160+2T>C
|
rs886044721
|
|
NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly)
|
rs886044720
|
|
NM_000350.3(ABCA4):c.161G>T (p.Cys54Phe)
|
rs150774447
|
|
NM_000350.3(ABCA4):c.1621_1622del (p.Leu541fs)
|
rs1553192715
|
|
NM_000350.3(ABCA4):c.1645G>A (p.Ala549Thr)
|
rs61748557
|
|
NM_000350.3(ABCA4):c.1719G>A (p.Met573Ile)
|
rs886044728
|
|
NM_000350.3(ABCA4):c.173A>T (p.Asn58Ile)
|
|
|
NM_000350.3(ABCA4):c.1742C>A (p.Thr581Asn)
|
rs1661175744
|
|
NM_000350.3(ABCA4):c.1749_1750del (p.Lys583fs)
|
rs2101079015
|
|
NM_000350.3(ABCA4):c.1758C>A (p.Asp586Glu)
|
rs1570393727
|
|
NM_000350.3(ABCA4):c.1760+2T>G
|
rs61751385
|
|
NM_000350.3(ABCA4):c.1789C>T (p.Pro597Ser)
|
rs61751393
|
|
NM_000350.3(ABCA4):c.1792G>A (p.Val598Met)
|
rs201838557
|
|
NM_000350.3(ABCA4):c.1793T>G (p.Val598Gly)
|
rs886044729
|
|
NM_000350.3(ABCA4):c.180G>C (p.Ala60=)
|
rs756647171
|
|
NM_000350.3(ABCA4):c.1820G>T (p.Gly607Val)
|
|
|
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)
|
rs1557787473
|
|
NM_000350.3(ABCA4):c.1891G>A (p.Gly631Arg)
|
rs886044730
|
|
NM_000350.3(ABCA4):c.1901T>C (p.Leu634Pro)
|
|
|
NM_000350.3(ABCA4):c.1918C>G (p.Pro640Ala)
|
rs766570903
|
|
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.1995C>A (p.Tyr665Ter)
|
rs757302286
|
|
NM_000350.3(ABCA4):c.2005_2006del (p.Met669fs)
|
rs61749422
|
|
NM_000350.3(ABCA4):c.2007G>C (p.Met669Ile)
|
rs545963645
|
|
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.2069del (p.Gly690fs)
|
rs2101075191
|
|
NM_000350.3(ABCA4):c.206G>A (p.Trp69Ter)
|
rs886044722
|
|
NM_000350.3(ABCA4):c.2099G>T (p.Trp700Leu)
|
rs61749425
|
|
NM_000350.3(ABCA4):c.2105T>C (p.Leu702Pro)
|
|
|
NM_000350.3(ABCA4):c.2161-1G>A
|
rs1401924846
|
|
NM_000350.3(ABCA4):c.2292_2295delinsAGG (p.Cys764_Ser765delinsTer)
|
rs2101069758
|
|
NM_000350.3(ABCA4):c.2294G>A (p.Ser765Asn)
|
rs61749429
|
|
NM_000350.3(ABCA4):c.2318A>G (p.Tyr773Cys)
|
rs764727316
|
|
NM_000350.3(ABCA4):c.2327A>G (p.His776Arg)
|
|
|
NM_000350.3(ABCA4):c.2347C>T (p.Gln783Ter)
|
rs2101069632
|
|
NM_000350.3(ABCA4):c.2408del (p.Gly803fs)
|
rs1570386206
|
|
NM_000350.3(ABCA4):c.2424C>G (p.Tyr808Ter)
|
|
|
NM_000350.3(ABCA4):c.242G>C (p.Cys81Ser)
|
rs1570433137
|
|
NM_000350.3(ABCA4):c.2453G>C (p.Gly818Ala)
|
|
|
NM_000350.3(ABCA4):c.2461T>C (p.Trp821Arg)
|
rs61749433
|
|
NM_000350.3(ABCA4):c.2522_2530del (p.Gln841_Met843del)
|
|
|
NM_000350.3(ABCA4):c.2537A>G (p.Asp846Gly)
|
rs779466403
|
|
NM_000350.3(ABCA4):c.2565G>A (p.Trp855Ter)
|
rs61749438
|
|
NM_000350.3(ABCA4):c.2587+1G>A
|
rs61749439
|
|
NM_000350.3(ABCA4):c.2587+2T>C
|
rs1557783989
|
|
NM_000350.3(ABCA4):c.2653+2del
|
rs766646086
|
|
NM_000350.3(ABCA4):c.2680dup (p.Leu894fs)
|
rs1570380080
|
|
NM_000350.3(ABCA4):c.2692G>T (p.Glu898Ter)
|
rs61749441
|
|
NM_000350.3(ABCA4):c.2731_2732del (p.Glu911fs)
|
rs1660761326
|
|
NM_000350.3(ABCA4):c.2741_2742del (p.His914fs)
|
rs2101059717
|
|
NM_000350.3(ABCA4):c.2798A>T (p.Asn933Ile)
|
rs527236129
|
|
NM_000350.3(ABCA4):c.2807del (p.Lys936fs)
|
rs2101057370
|
|
NM_000350.3(ABCA4):c.2828G>T (p.Arg943Leu)
|
rs1801581
|
|
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.287del (p.Asn96fs)
|
rs1553196583
|
|
NM_000350.3(ABCA4):c.2888del (p.Gly963fs)
|
rs61752410
|
|
NM_000350.3(ABCA4):c.2895T>G (p.Asn965Lys)
|
rs1570377861
|
|
NM_000350.3(ABCA4):c.2908del (p.Thr970fs)
|
rs2101057076
|
|
NM_000350.3(ABCA4):c.2912C>A (p.Thr971Asn)
|
rs61749450
|
|
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn)
|
rs61749451
|
|
NM_000350.3(ABCA4):c.2918+1060G>T
|
rs763003887
|
|
NM_000350.3(ABCA4):c.2919-2A>G
|
rs1660626613
|
|
NM_000350.3(ABCA4):c.2922_2949del (p.Ile975fs)
|
rs2101053587
|
|
NM_000350.3(ABCA4):c.2940G>C (p.Leu980Phe)
|
rs886044734
|
|
NM_000350.3(ABCA4):c.2947A>G (p.Thr983Ala)
|
rs1368508052
|
|
NM_000350.3(ABCA4):c.296dup (p.Asn99fs)
|
rs62645948
|
|
NM_000350.3(ABCA4):c.2T>C (p.Met1Thr)
|
|
|
NM_000350.3(ABCA4):c.3016G>C (p.Gly1006Arg)
|
rs1660620409
|
|
NM_000350.3(ABCA4):c.3081T>G (p.Tyr1027Ter)
|
rs1553190664
|
|
NM_000350.3(ABCA4):c.3083C>T (p.Ala1028Val)
|
rs121909204
|
|
NM_000350.3(ABCA4):c.3085C>T (p.Gln1029Ter)
|
rs61751397
|
|
NM_000350.3(ABCA4):c.3093del (p.Gly1032fs)
|
rs886044735
|
|
NM_000350.3(ABCA4):c.3179A>C (p.Gln1060Pro)
|
rs772663974
|
|
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)
|
rs387906385
|
|
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.3266C>A (p.Thr1089Asn)
|
rs2101050605
|
|
NM_000350.3(ABCA4):c.3272G>A (p.Gly1091Glu)
|
rs61752417
|
|
NM_000350.3(ABCA4):c.3287C>T (p.Ser1096Leu)
|
rs763267492
|
|
NM_000350.3(ABCA4):c.3296C>G (p.Ser1099Ter)
|
rs776773510
|
|
NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr)
|
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.3349A>C (p.Thr1117Pro)
|
rs2101048742
|
|
NM_000350.3(ABCA4):c.3377T>C (p.Leu1126Pro)
|
rs1047376
|
|
NM_000350.3(ABCA4):c.3380G>A (p.Gly1127Glu)
|
rs1570370929
|
|
NM_000350.3(ABCA4):c.3385C>G (p.Arg1129Gly)
|
rs779426136
|
|
NM_000350.3(ABCA4):c.3415T>G (p.Tyr1139Asp)
|
rs2101048577
|
|
NM_000350.3(ABCA4):c.3449_3451del (p.Cys1150del)
|
rs1570370826
|
|
NM_000350.3(ABCA4):c.3470T>G (p.Leu1157Ter)
|
rs2101048479
|
|
NM_000350.3(ABCA4):c.3529_3532dup (p.Ser1178fs)
|
rs886044736
|
|
NM_000350.3(ABCA4):c.3540del (p.Ser1181fs)
|
rs2101047075
|
|
NM_000350.3(ABCA4):c.3608-1G>A
|
|
|
NM_000350.3(ABCA4):c.3664_3669del (p.Val1222_Glu1223del)
|
rs1570367367
|
|
NM_000350.3(ABCA4):c.3698T>C (p.Leu1233Pro)
|
rs1366653130
|
|
NM_000350.3(ABCA4):c.36G>A (p.Trp12Ter)
|
rs761209432
|
|
NM_000350.3(ABCA4):c.3729T>A (p.Tyr1243Ter)
|
rs1570367230
|
|
NM_000350.3(ABCA4):c.3732del (p.Ser1245fs)
|
|
|
NM_000350.3(ABCA4):c.3767_3768dup (p.Leu1257fs)
|
rs1570367144
|
|
NM_000350.3(ABCA4):c.3808G>T (p.Glu1270Ter)
|
rs61752425
|
|
NM_000350.3(ABCA4):c.3812A>G (p.Glu1271Gly)
|
rs1660360744
|
|
NM_000350.3(ABCA4):c.3813G>A (p.Glu1271=)
|
rs886044737
|
|
NM_000350.3(ABCA4):c.3814-2A>T
|
rs1660350150
|
|
NM_000350.3(ABCA4):c.3815T>C (p.Ile1272Thr)
|
rs886044738
|
|
NM_000350.3(ABCA4):c.3862+1G>A
|
rs61751400
|
|
NM_000350.3(ABCA4):c.3871C>T (p.Gln1291Ter)
|
rs746541266
|
|
NM_000350.3(ABCA4):c.3898del (p.Arg1300fs)
|
|
|
NM_000350.3(ABCA4):c.3941C>T (p.Pro1314Leu)
|
rs2101037181
|
|
NM_000350.3(ABCA4):c.4003_4004del (p.Pro1335fs)
|
rs1571265241
|
|
NM_000350.3(ABCA4):c.4036_4037del (p.Thr1346fs)
|
rs61751401
|
|
NM_000350.3(ABCA4):c.4102C>T (p.Arg1368Cys)
|
rs1183074086
|
|
NM_000350.3(ABCA4):c.4108del (p.His1370fs)
|
rs1571265125
|
|
NM_000350.3(ABCA4):c.4128+1G>A
|
rs2101036750
|
|
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.4222del (p.Trp1408fs)
|
rs1571264574
|
|
NM_000350.3(ABCA4):c.4243A>C (p.Thr1415Pro)
|
rs1571264551
|
|
NM_000350.3(ABCA4):c.4243dup (p.Thr1415fs)
|
|
|
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.428del (p.Pro143fs)
|
rs1662504407
|
|
NM_000350.3(ABCA4):c.4313C>A (p.Pro1438Gln)
|
|
|
NM_000350.3(ABCA4):c.4319T>C (p.Phe1440Ser)
|
rs61750141
|
|
NM_000350.3(ABCA4):c.4352+54A>G
|
rs547806
|
|
NM_000350.3(ABCA4):c.4354G>T (p.Glu1452Ter)
|
rs886044742
|
|
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.452T>C (p.Ile151Thr)
|
rs1012017728
|
|
NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs)
|
rs281865377
|
|
NM_000350.3(ABCA4):c.4539+2064C>T
|
rs1553189179
|
|
NM_000350.3(ABCA4):c.4539+2066C>G
|
rs1571261864
|
|
NM_000350.3(ABCA4):c.4540-1573C>T
|
|
|
NM_000350.3(ABCA4):c.4540-2036C>A
|
rs886044743
|
|
NM_000350.3(ABCA4):c.4567C>T (p.Gln1523Ter)
|
rs1553188916
|
|
NM_000350.3(ABCA4):c.4571del (p.Asp1524fs)
|
rs2101027758
|
|
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser)
|
rs1557770154
|
|
NM_000350.3(ABCA4):c.45G>A (p.Trp15Ter)
|
rs62645957
|
|
NM_000350.3(ABCA4):c.4609del (p.Thr1537fs)
|
rs1659998657
|
|
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=)
|
rs138475920
|
|
NM_000350.3(ABCA4):c.4635C>T (p.Ser1545=)
|
rs886044744
|
|
NM_000350.3(ABCA4):c.4640del (p.Lys1547fs)
|
rs886044745
|
|
NM_000350.3(ABCA4):c.4679T>A (p.Ile1560Asn)
|
rs1571258567
|
|
NM_000350.3(ABCA4):c.4720G>T (p.Glu1574Ter)
|
rs1282472315
|
|
NM_000350.3(ABCA4):c.4727T>G (p.Leu1576Arg)
|
rs1553188682
|
|
NM_000350.3(ABCA4):c.4734_4739del (p.Phe1579_Leu1580del)
|
rs1571258440
|
|
NM_000350.3(ABCA4):c.4734_4739delinsCC (p.Phe1579fs)
|
rs2101024039
|
|
NM_000350.3(ABCA4):c.4774-17_4774-16del
|
rs55860151
|
|
NM_000350.3(ABCA4):c.4774-9G>A
|
rs2101023661
|
|
NM_000350.3(ABCA4):c.4838del (p.Asp1613fs)
|
rs61752438
|
|
NM_000350.3(ABCA4):c.4842C>G (p.Asn1614Lys)
|
rs1265079301
|
|
NM_000350.3(ABCA4):c.4848+1G>T
|
rs1659900228
|
|
NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys)
|
rs61752439
|
|
NM_000350.3(ABCA4):c.488_491del (p.Leu163fs)
|
rs747950242
|
|
NM_000350.3(ABCA4):c.4897G>A (p.Val1633Met)
|
|
|
NM_000350.3(ABCA4):c.4958G>A (p.Gly1653Glu)
|
rs1659888526
|
|
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)
|
rs886044746
|
|
NM_000350.3(ABCA4):c.5012_5016del (p.Ile1671fs)
|
rs1571257754
|
|
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)
|
rs62646872
|
|
NM_000350.3(ABCA4):c.5059del (p.Ile1687fs)
|
rs1571256775
|
|
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro)
|
rs61753020
|
|
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.5161_5162del (p.Thr1721fs)
|
rs61750566
|
|
NM_000350.3(ABCA4):c.5169C>G (p.Tyr1723Ter)
|
rs1437993640
|
|
NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter)
|
rs1557767754
|
|
NM_000350.3(ABCA4):c.5175dup (p.Thr1726fs)
|
rs1057518955
|
|
NM_000350.3(ABCA4):c.517dup (p.Leu173fs)
|
rs1662327418
|
|
NM_000350.3(ABCA4):c.5189G>A (p.Trp1730Ter)
|
rs886044747
|
|
NM_000350.3(ABCA4):c.5196+1013A>G
|
rs886044748
|
|
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.5278C>A (p.Leu1760Ile)
|
|
|
NM_000350.3(ABCA4):c.5285C>A (p.Ala1762Asp)
|
rs121909206
|
|
NM_000350.3(ABCA4):c.5288T>C (p.Leu1763Pro)
|
rs61753028
|
|
NM_000350.3(ABCA4):c.5311G>A (p.Gly1771Arg)
|
rs374015407
|
|
NM_000350.3(ABCA4):c.5351T>G (p.Leu1784Arg)
|
rs746252741
|
|
NM_000350.3(ABCA4):c.5363C>T (p.Pro1788Leu)
|
rs886044751
|
|
NM_000350.3(ABCA4):c.5371dup (p.Ala1791fs)
|
|
|
NM_000350.3(ABCA4):c.5377G>A (p.Val1793Met)
|
rs1659672463
|
|
NM_000350.3(ABCA4):c.5380G>C (p.Ala1794Pro)
|
rs1571252997
|
|
NM_000350.3(ABCA4):c.5391_5392del (p.Cys1797_Ala1798insTer)
|
rs786205445
|
|
NM_000350.3(ABCA4):c.5453del (p.Asn1818fs)
|
rs2101013633
|
|
NM_000350.3(ABCA4):c.5460+1G>A
|
rs61753030
|
|
NM_000350.3(ABCA4):c.5460+2T>C
|
|
|
NM_000350.3(ABCA4):c.5461-1G>T
|
rs2101008577
|
|
NM_000350.3(ABCA4):c.5461-6T>C
|
rs1659543067
|
|
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.5513A>G (p.His1838Arg)
|
rs886044752
|
|
NM_000350.3(ABCA4):c.5516T>C (p.Phe1839Ser)
|
rs1297857869
|
|
NM_000350.3(ABCA4):c.5530G>T (p.Gly1844Cys)
|
rs2101008373
|
|
NM_000350.3(ABCA4):c.5558C>A (p.Ala1853Asp)
|
rs886044753
|
|
NM_000350.3(ABCA4):c.5584+6T>C
|
rs61750633
|
|
NM_000350.3(ABCA4):c.5637del (p.Phe1880fs)
|
|
|
NM_000350.3(ABCA4):c.5655del (p.Val1887fs)
|
rs1659524475
|
|
NM_000350.3(ABCA4):c.5656G>A (p.Gly1886Arg)
|
rs886044754
|
|
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+1818G>T
|
|
|
NM_000350.3(ABCA4):c.571-2A>G
|
rs61748534
|
|
NM_000350.3(ABCA4):c.5714+103A>G
|
|
|
NM_000350.3(ABCA4):c.5714+1G>T
|
rs1232476760
|
|
NM_000350.3(ABCA4):c.5762_5763del (p.Val1921fs)
|
rs1659469884
|
|
NM_000350.3(ABCA4):c.5828T>C (p.Leu1943Pro)
|
rs886044755
|
|
NM_000350.3(ABCA4):c.5905G>A (p.Gly1969Ser)
|
|
|
NM_000350.3(ABCA4):c.5907CCT[3] (p.Leu1971_Gly1972insLeu)
|
rs1659430629
|
|
NM_000350.3(ABCA4):c.5909T>C (p.Leu1970Pro)
|
rs886044756
|
|
NM_000350.3(ABCA4):c.5912T>G (p.Leu1971Arg)
|
rs61753034
|
|
NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer)
|
rs61751389
|
|
NM_000350.3(ABCA4):c.5924G>T (p.Gly1975Val)
|
rs1659429594
|
|
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)
|
rs1064793014
|
|
NM_000350.3(ABCA4):c.5936C>T (p.Thr1979Ile)
|
rs61753037
|
|
NM_000350.3(ABCA4):c.5942C>G (p.Thr1981Arg)
|
rs752147871
|
|
NM_000350.3(ABCA4):c.5959_5964delinsTG (p.Thr1986_Gly1987insTer)
|
rs1659427600
|
|
NM_000350.3(ABCA4):c.5977del (p.Ser1993fs)
|
rs1659426620
|
|
NM_000350.3(ABCA4):c.6006-16G>A
|
rs4147863
|
|
NM_000350.3(ABCA4):c.6007A>T (p.Ile2003Phe)
|
rs1170554250
|
|
NM_000350.3(ABCA4):c.6044G>T (p.Gly2015Val)
|
|
|
NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro)
|
rs886044758
|
|
NM_000350.3(ABCA4):c.6077del (p.Leu2026fs)
|
rs1571245809
|
|
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.6146del (p.Lys2049fs)
|
rs1659351261
|
|
NM_000350.3(ABCA4):c.6148-698_6670del
|
|
|
NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg)
|
rs61753039
|
|
NM_000350.3(ABCA4):c.6181_6184del (p.Thr2061fs)
|
rs1659200106
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
NM_000350.3(ABCA4):c.61C>T (p.Gln21Ter)
|
rs770272033
|
|
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val)
|
rs367839100
|
|
NM_000350.3(ABCA4):c.6221del (p.Gly2074fs)
|
rs1571243037
|
|
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.6283-3_6283-2delinsAG
|
rs886044760
|
|
NM_000350.3(ABCA4):c.6299G>A (p.Gly2100Glu)
|
rs2100994077
|
|
NM_000350.3(ABCA4):c.6308C>A (p.Pro2103His)
|
rs2100994049
|
|
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.6329G>A (p.Trp2110Ter)
|
rs62642565
|
|
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro)
|
rs2100993895
|
|
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn)
|
rs1571242070
|
|
NM_000350.3(ABCA4):c.6401A>G (p.Glu2134Gly)
|
rs2100993742
|
|
NM_000350.3(ABCA4):c.6428T>A (p.Met2143Lys)
|
rs1659153516
|
|
NM_000350.3(ABCA4):c.6446G>C (p.Arg2149Pro)
|
rs61750655
|
|
NM_000350.3(ABCA4):c.6453G>T (p.Met2151Ile)
|
rs1057518954
|
|
NM_000350.3(ABCA4):c.6454G>A (p.Gly2152Ser)
|
|
|
NM_000350.3(ABCA4):c.6454G>T (p.Gly2152Cys)
|
rs1571241947
|
|
NM_000350.3(ABCA4):c.6471del (p.Lys2158fs)
|
rs1373168392
|
|
NM_000350.3(ABCA4):c.6478A>G (p.Lys2160Glu)
|
rs1571241930
|
|
NM_000350.3(ABCA4):c.6515A>G (p.Lys2172Arg)
|
rs886044762
|
|
NM_000350.3(ABCA4):c.6609C>A (p.Tyr2203Ter)
|
rs61753045
|
|
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)
|
rs61753046
|
|
NM_000350.3(ABCA4):c.666_678del (p.Lys223fs)
|
rs63749055
|
|
NM_000350.3(ABCA4):c.6698A>T (p.Glu2233Val)
|
rs2100987881
|
|
NM_000350.3(ABCA4):c.67-1G>C
|
rs778908435
|
|
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.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>T (p.Cys230Phe)
|
|
|
NM_000350.3(ABCA4):c.758T>A (p.Leu253His)
|
rs2101135424
|
|
NM_000350.3(ABCA4):c.768+1G>A
|
|
|
NM_000350.3(ABCA4):c.785A>G (p.Asp262Gly)
|
rs1661753710
|
|
NM_000350.3(ABCA4):c.834del (p.Asp279fs)
|
rs779743222
|
|
NM_000350.3(ABCA4):c.859-13T>C
|
rs1246188478
|
|
NM_000350.3(ABCA4):c.86T>G (p.Leu29Arg)
|
rs886044719
|
|
NM_000350.3(ABCA4):c.956T>G (p.Leu319Arg)
|
rs886044723
|
|
NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter)
|
rs61751418
|
|
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]
|
|
|
NM_000350.3:c.1876_1999del
|
|
|
NM_000554.6(CRX):c.381dup (p.Ser128fs)
|
rs1599991268
|
|
NM_000554.6(CRX):c.590del (p.Pro197fs)
|
rs1968169100
|
|
NM_000554.6(CRX):c.827G>A (p.Trp276Ter)
|
rs1599992622
|
|
NM_001029883.3(PCARE):c.947del (p.Asn316fs)
|
rs779886453
|
|
NM_001099667.3(ARMS2):c.*399A>G
|
rs2097478012
|
|
NM_001099667.3(ARMS2):c.-60G>T
|
rs886046769
|
|
NM_001099667.3(ARMS2):c.298-13A>G
|
rs7088128
|
|
NM_001099667.3(ARMS2):c.298-13A>T
|
rs7088128
|
|
NM_001319074.4(RAX2):c.*1483C>T
|
rs886054363
|
|
NM_001319074.4(RAX2):c.*194C>G
|
rs11883056
|
|
NM_001319074.4(RAX2):c.*263C>T
|
rs1568400313
|
|
NM_001319074.4(RAX2):c.*7C>T
|
rs781395665
|
|
NM_001319074.4(RAX2):c.*88C>T
|
rs886054369
|
|
NM_001319074.4(RAX2):c.*897C>T
|
rs2037229349
|
|
NM_001319074.4(RAX2):c.*949C>T
|
rs886054367
|
|
NM_001319074.4(RAX2):c.-275G>A
|
rs1184528094
|
|
NM_001319074.4(RAX2):c.-319C>A
|
rs886054371
|
|
NM_001319074.4(RAX2):c.217-11G>C
|
rs762459292
|
|
NM_001319074.4(RAX2):c.217-8C>A
|
rs79588413
|
|
NM_001319074.4(RAX2):c.76A>C (p.Lys26Gln)
|
rs370364475
|
|
NM_001371596.2(MFSD8):c.1102G>C (p.Asp368His)
|
rs727502800
|
|
NM_001371596.2(MFSD8):c.1124del (p.Pro375fs)
|
rs1578794927
|
|
NM_001371596.2(MFSD8):c.115A>T (p.Ile39Phe)
|
rs201739608
|
|
NM_001371596.2(MFSD8):c.1351-9C>T
|
rs75039907
|
|
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)
|
rs559155109
|
|
NM_001371596.2(MFSD8):c.5C>T (p.Ala2Val)
|
rs867524398
|
|
NM_001371596.2(MFSD8):c.698+2T>A
|
|
|
NM_001371596.2(MFSD8):c.754+1G>A
|
rs868732642
|
|
NM_001371596.2(MFSD8):c.863+5G>A
|
|
|
NM_001844.5(COL2A1):c.1527+135G>A
|
rs1592218346
|
|
NM_001922.5(DCT):c.1180-122A>G
|
rs1407995
|
|
NM_002775.5(HTRA1):c.958G>A (p.Asp320Asn)
|
|
|
NM_002775.5(HTRA1):c.972+1G>A
|
|
|
NM_003322.6(TULP1):c.1201C>T (p.Gln401Ter)
|
rs1761021773
|
|
NM_004183.4(BEST1):c.1030C>T (p.Gln344Ter)
|
rs1591303900
|
|
NM_004183.4(BEST1):c.1566_1576dup (p.His526delinsProTer)
|
rs1389863115
|
|
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys)
|
rs727503824
|
|
NM_004183.4(BEST1):c.95T>C (p.Leu32Pro)
|
rs1591266591
|
|
NM_006017.3(PROM1):c.*107G>T
|
rs1024479425
|
|
NM_006017.3(PROM1):c.*1143A>C
|
rs544424652
|
|
NM_006017.3(PROM1):c.*1160A>G
|
rs886059194
|
|
NM_006017.3(PROM1):c.*551A>T
|
rs886059197
|
|
NM_006017.3(PROM1):c.*640T>A
|
rs1713667197
|
|
NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp)
|
rs1414948996
|
|
NM_006017.3(PROM1):c.105A>G (p.Glu35=)
|
rs886059205
|
|
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys)
|
rs137853006
|
|
NM_006017.3(PROM1):c.1218C>G (p.Leu406=)
|
rs886059203
|
|
NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser)
|
rs886059202
|
|
NM_006017.3(PROM1):c.1279T>A (p.Leu427Met)
|
rs200710798
|
|
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)
|
rs543698823
|
|
NM_006017.3(PROM1):c.1424T>A (p.Val475Asp)
|
rs2149234796
|
|
NM_006017.3(PROM1):c.1579-3T>G
|
rs1355865032
|
|
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp)
|
rs755064227
|
|
NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr)
|
rs886059200
|
|
NM_006017.3(PROM1):c.1954T>G (p.Tyr652Asp)
|
rs768320190
|
|
NM_006017.3(PROM1):c.2023C>T (p.Gln675Ter)
|
rs1324631413
|
|
NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly)
|
rs530749007
|
|
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg)
|
rs199727800
|
|
NM_006017.3(PROM1):c.2281-5C>G
|
rs777654968
|
|
NM_006017.3(PROM1):c.2373+13C>G
|
rs886059199
|
|
NM_006017.3(PROM1):c.2480T>C (p.Val827Ala)
|
rs886059198
|
|
NM_006017.3(PROM1):c.2489+8T>C
|
rs1433533825
|
|
NM_006017.3(PROM1):c.2508G>A (p.Met836Ile)
|
rs534529507
|
|
NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn)
|
rs1734560540
|
|
NM_006017.3(PROM1):c.380G>T (p.Gly127Val)
|
rs1733212554
|
|
NM_006017.3(PROM1):c.734T>C (p.Leu245Pro)
|
rs1730403199
|
|
NM_006017.3(PROM1):c.784+1G>A
|
rs745704627
|
|
NM_006329.4(FBLN5):c.-139C>T
|
rs554315938
|
|
NM_006329.4(FBLN5):c.-389C>A
|
rs886050891
|
|
NM_006329.4(FBLN5):c.-428G>C
|
rs886050893
|
|
NM_006329.4(FBLN5):c.-77C>G
|
rs751344551
|
|
NM_006329.4(FBLN5):c.1063G>C (p.Val355Leu)
|
rs754104809
|
|
NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs)
|
rs1595286986
|
|
NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu)
|
rs121434303
|
|
NM_006329.4(FBLN5):c.124+8C>A
|
rs2056089374
|
|
NM_006329.4(FBLN5):c.259C>T (p.Pro87Ser)
|
rs121434301
|
|
NM_006329.4(FBLN5):c.371A>C (p.Gln124Pro)
|
|
|
NM_006329.4(FBLN5):c.388G>A (p.Glu130Lys)
|
rs886050888
|
|
NM_006329.4(FBLN5):c.506T>C (p.Ile169Thr)
|
rs28939072
|
|
NM_006329.4(FBLN5):c.726C>G (p.Gly242=)
|
rs148209555
|
|
NM_006329.4(FBLN5):c.992G>A (p.Arg331His)
|
rs774735234
|
|
NM_014014.5(SNRNP200):c.210-5A>G
|
rs745775178
|
|
NM_014053.4(FLVCR1):c.1557_1561del (p.Asn519fs)
|
rs748989557
|
|
NM_019098.4(CNGB3):c.*1654C>T
|
rs796676165
|
|
NM_019098.4(CNGB3):c.*1705A>C
|
rs982329960
|
|
NM_019098.4(CNGB3):c.*1733T>C
|
rs970889903
|
|
NM_019098.4(CNGB3):c.-36T>G
|
rs7812496
|
|
NM_019098.4(CNGB3):c.[1193A>G];[1208G>A]
|
|
|
NM_019098.5(CNGB3):c.*1093C>T
|
rs886063156
|
|
NM_019098.5(CNGB3):c.*1143T>C
|
rs1821625317
|
|
NM_019098.5(CNGB3):c.*1303G>A
|
rs17683284
|
|
NM_019098.5(CNGB3):c.*272G>T
|
rs1821641223
|
|
NM_019098.5(CNGB3):c.*291T>A
|
rs1821640855
|
|
NM_019098.5(CNGB3):c.*379T>G
|
rs188787381
|
|
NM_019098.5(CNGB3):c.*435G>A
|
rs964834349
|
|
NM_019098.5(CNGB3):c.*735A>G
|
rs73269601
|
|
NM_019098.5(CNGB3):c.*800C>G
|
rs1028298142
|
|
NM_019098.5(CNGB3):c.*915G>C
|
rs189446254
|
|
NM_019098.5(CNGB3):c.-1G>A
|
rs1825379377
|
|
NM_019098.5(CNGB3):c.1178+9T>C
|
rs549858104
|
|
NM_019098.5(CNGB3):c.1347A>T (p.Thr449=)
|
rs768959472
|
|
NM_019098.5(CNGB3):c.1714C>G (p.Leu572Val)
|
rs771889150
|
|
NM_019098.5(CNGB3):c.1773A>G (p.Gly591=)
|
rs1822365271
|
|
NM_019098.5(CNGB3):c.1781+1G>T
|
rs1375507464
|
|
NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])
|
rs746549330
|
|
NM_019098.5(CNGB3):c.2423A>C (p.Lys808Thr)
|
rs1821645749
|
|
NM_019098.5(CNGB3):c.331C>G (p.Pro111Ala)
|
rs778184687
|
|
NM_019098.5(CNGB3):c.387T>G (p.Asp129Glu)
|
rs758681401
|
|
NM_019098.5(CNGB3):c.473C>T (p.Pro158Leu)
|
rs1456633980
|
|
NM_019098.5(CNGB3):c.989A>G (p.Lys330Arg)
|
rs1823317372
|
|
NM_021023.6(CFHR3):c.839_840del (p.Ile280fs)
|
rs781400776
|
|
NM_021023.6(CFHR3):c.934A>T (p.Ile312Phe)
|
rs73073594
|
|
NM_022726.4(ELOVL4):c.*1038A>G
|
rs578261043
|
|
NM_022726.4(ELOVL4):c.*1241T>G
|
rs1582042288
|
|
NM_022726.4(ELOVL4):c.*1423A>G
|
rs1774136809
|
|
NM_022726.4(ELOVL4):c.*163C>T
|
rs945949866
|
|
NM_022726.4(ELOVL4):c.*360A>G
|
rs537318852
|
|
NM_022726.4(ELOVL4):c.*373A>T
|
rs886061800
|
|
NM_022726.4(ELOVL4):c.-125C>G
|
rs886061803
|
|
NM_022726.4(ELOVL4):c.-1G>A
|
rs1330070846
|
|
NM_022726.4(ELOVL4):c.-236C>G
|
rs240307
|
|
NM_022726.4(ELOVL4):c.-248G>A
|
rs886061805
|
|
NM_022726.4(ELOVL4):c.-252G>A
|
rs539142746
|
|
NM_022726.4(ELOVL4):c.-258C>T
|
rs886061806
|
|
NM_022726.4(ELOVL4):c.-262A>G
|
rs886061807
|
|
NM_022726.4(ELOVL4):c.-90G>C
|
rs62407622
|
|
NM_022726.4(ELOVL4):c.101-6C>G
|
rs1774344408
|
|
NM_022726.4(ELOVL4):c.215del (p.Pro72fs)
|
rs746047636
|
|
NM_022726.4(ELOVL4):c.502T>C (p.Leu168=)
|
rs886061802
|
|
NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe)
|
rs587777598
|
|
NM_022726.4(ELOVL4):c.789_793delinsAAC (p.Asn264fs)
|
rs587776613
|
|
NM_022726.4(ELOVL4):c.790_794del (p.Asn264fs)
|
rs1131690770
|
|
NM_022726.4(ELOVL4):c.810C>G (p.Tyr270Ter)
|
rs104893946
|
|
NM_031935.3(HMCN1):c.*223A>G
|
rs1653630018
|
|
NM_031935.3(HMCN1):c.*396T>G
|
rs886045694
|
|
NM_031935.3(HMCN1):c.*768G>T
|
rs560234419
|
|
NM_031935.3(HMCN1):c.*927T>C
|
rs886045699
|
|
NM_031935.3(HMCN1):c.*982T>G
|
rs886045700
|
|
NM_031935.3(HMCN1):c.-40T>C
|
rs886045659
|
|
NM_031935.3(HMCN1):c.1004T>A (p.Val335Asp)
|
|
|
NM_031935.3(HMCN1):c.10168C>T (p.Arg3390Trp)
|
|
|
NM_031935.3(HMCN1):c.10169G>A (p.Arg3390Gln)
|
rs369620574
|
|
NM_031935.3(HMCN1):c.10403C>G (p.Ala3468Gly)
|
rs201041141
|
|
NM_031935.3(HMCN1):c.10866T>G (p.Ile3622Met)
|
|
|
NM_031935.3(HMCN1):c.10942G>C (p.Val3648Leu)
|
rs886045679
|
|
NM_031935.3(HMCN1):c.10982G>C (p.Arg3661Pro)
|
rs141818688
|
|
NM_031935.3(HMCN1):c.10996C>T (p.Pro3666Ser)
|
|
|
NM_031935.3(HMCN1):c.11054G>C (p.Gly3685Ala)
|
rs145492995
|
|
NM_031935.3(HMCN1):c.11240G>C (p.Arg3747Thr)
|
rs886045680
|
|
NM_031935.3(HMCN1):c.11404+11G>T
|
rs187354891
|
|
NM_031935.3(HMCN1):c.11464A>G (p.Thr3822Ala)
|
|
|
NM_031935.3(HMCN1):c.11531T>C (p.Leu3844Pro)
|
rs1661087003
|
|
NM_031935.3(HMCN1):c.11641G>A (p.Gly3881Ser)
|
|
|
NM_031935.3(HMCN1):c.11687C>T (p.Pro3896Leu)
|
rs761533889
|
|
NM_031935.3(HMCN1):c.11743G>A (p.Val3915Ile)
|
|
|
NM_031935.3(HMCN1):c.11953C>T (p.His3985Tyr)
|
rs886045681
|
|
NM_031935.3(HMCN1):c.12003G>T (p.Leu4001=)
|
rs752889177
|
|
NM_031935.3(HMCN1):c.12047G>T (p.Ser4016Ile)
|
rs1661313788
|
|
NM_031935.3(HMCN1):c.12073G>A (p.Gly4025Ser)
|
|
|
NM_031935.3(HMCN1):c.12455A>G (p.Asn4152Ser)
|
rs1661480969
|
|
NM_031935.3(HMCN1):c.12726C>A (p.Asn4242Lys)
|
|
|
NM_031935.3(HMCN1):c.12763A>C (p.Thr4255Pro)
|
rs1661739529
|
|
NM_031935.3(HMCN1):c.12850A>G (p.Thr4284Ala)
|
rs886045683
|
|
NM_031935.3(HMCN1):c.12906C>T (p.Ala4302=)
|
rs144437187
|
|
NM_031935.3(HMCN1):c.12936A>G (p.Glu4312=)
|
rs1661842867
|
|
NM_031935.3(HMCN1):c.13070C>A (p.Ser4357Tyr)
|
|
|
NM_031935.3(HMCN1):c.13078A>T (p.Ile4360Phe)
|
rs372109906
|
|
NM_031935.3(HMCN1):c.13231-12T>G
|
rs1661981826
|
|
NM_031935.3(HMCN1):c.13939A>G (p.Ser4647Gly)
|
|
|
NM_031935.3(HMCN1):c.13942G>T (p.Ala4648Ser)
|
rs367723447
|
|
NM_031935.3(HMCN1):c.14021C>T (p.Pro4674Leu)
|
|
|
NM_031935.3(HMCN1):c.14129G>A (p.Ser4710Asn)
|
|
|
NM_031935.3(HMCN1):c.14266+19_14266+22del
|
rs770465309
|
|
NM_031935.3(HMCN1):c.1442G>C (p.Ser481Thr)
|
|
|
NM_031935.3(HMCN1):c.14437+6C>T
|
rs972515280
|
|
NM_031935.3(HMCN1):c.14516G>A (p.Arg4839Gln)
|
|
|
NM_031935.3(HMCN1):c.14539G>A (p.Val4847Ile)
|
|
|
NM_031935.3(HMCN1):c.14608+14T>G
|
rs150050864
|
|
NM_031935.3(HMCN1):c.14649T>G (p.Ile4883Met)
|
rs886045686
|
|
NM_031935.3(HMCN1):c.14738C>A (p.Thr4913Asn)
|
rs138232561
|
|
NM_031935.3(HMCN1):c.14918A>T (p.His4973Leu)
|
|
|
NM_031935.3(HMCN1):c.14952G>C (p.Leu4984Phe)
|
|
|
NM_031935.3(HMCN1):c.15010_15011delinsTT (p.Thr5004Phe)
|
rs794728017
|
|
NM_031935.3(HMCN1):c.15018+7T>A
|
rs886045687
|
|
NM_031935.3(HMCN1):c.15043A>G (p.Thr5015Ala)
|
rs767233028
|
|
NM_031935.3(HMCN1):c.15265A>T (p.Ser5089Cys)
|
rs749090856
|
|
NM_031935.3(HMCN1):c.15352T>A (p.Ser5118Thr)
|
rs886045688
|
|
NM_031935.3(HMCN1):c.15478G>A (p.Ala5160Thr)
|
|
|
NM_031935.3(HMCN1):c.15551C>G (p.Thr5184Ser)
|
rs142062263
|
|
NM_031935.3(HMCN1):c.15601C>T (p.Pro5201Ser)
|
rs1652220614
|
|
NM_031935.3(HMCN1):c.15691G>A (p.Val5231Met)
|
|
|
NM_031935.3(HMCN1):c.15808T>C (p.Cys5270Arg)
|
|
|
NM_031935.3(HMCN1):c.15834T>C (p.Asp5278=)
|
rs538516291
|
|
NM_031935.3(HMCN1):c.15893G>A (p.Cys5298Tyr)
|
|
|
NM_031935.3(HMCN1):c.1589C>T (p.Thr530Ile)
|
rs189951644
|
|
NM_031935.3(HMCN1):c.15941T>C (p.Met5314Thr)
|
|
|
NM_031935.3(HMCN1):c.16032ACA[1] (p.Gln5345del)
|
rs780673178
|
|
NM_031935.3(HMCN1):c.16280A>G (p.His5427Arg)
|
|
|
NM_031935.3(HMCN1):c.16414+12T>C
|
rs886045692
|
|
NM_031935.3(HMCN1):c.16602G>A (p.Leu5534=)
|
rs1653581731
|
|
NM_031935.3(HMCN1):c.16612C>T (p.Leu5538Phe)
|
rs369798131
|
|
NM_031935.3(HMCN1):c.16627T>C (p.Phe5543Leu)
|
rs886045693
|
|
NM_031935.3(HMCN1):c.16728G>A (p.Gln5576=)
|
rs749265997
|
|
NM_031935.3(HMCN1):c.16886C>G (p.Ala5629Gly)
|
|
|
NM_031935.3(HMCN1):c.1824G>T (p.Val608=)
|
rs756585754
|
|
NM_031935.3(HMCN1):c.2086C>G (p.Leu696Val)
|
rs886045663
|
|
NM_031935.3(HMCN1):c.2099-11G>A
|
rs886045664
|
|
NM_031935.3(HMCN1):c.2126G>A (p.Ser709Asn)
|
rs886045665
|
|
NM_031935.3(HMCN1):c.2359C>G (p.Leu787Val)
|
rs886045666
|
|
NM_031935.3(HMCN1):c.2727G>A (p.Leu909=)
|
rs775972475
|
|
NM_031935.3(HMCN1):c.2749A>C (p.Asn917His)
|
rs886045667
|
|
NM_031935.3(HMCN1):c.2761G>C (p.Glu921Gln)
|
rs568780532
|
|
NM_031935.3(HMCN1):c.295G>A (p.Asp99Asn)
|
rs1661793285
|
|
NM_031935.3(HMCN1):c.3520C>G (p.Gln1174Glu)
|
rs1468012804
|
|
NM_031935.3(HMCN1):c.3848G>A (p.Arg1283His)
|
|
|
NM_031935.3(HMCN1):c.3889A>T (p.Thr1297Ser)
|
|
|
NM_031935.3(HMCN1):c.4029A>G (p.Glu1343=)
|
rs368008071
|
|
NM_031935.3(HMCN1):c.4163del (p.Pro1388fs)
|
rs879255520
|
|
NM_031935.3(HMCN1):c.4181G>T (p.Trp1394Leu)
|
rs1653190129
|
|
NM_031935.3(HMCN1):c.4212C>T (p.Ser1404=)
|
rs1653204941
|
|
NM_031935.3(HMCN1):c.4352C>T (p.Pro1451Leu)
|
rs886045669
|
|
NM_031935.3(HMCN1):c.4440T>C (p.Thr1480=)
|
rs767657987
|
|
NM_031935.3(HMCN1):c.4511del (p.Leu1504fs)
|
rs1558137982
|
|
NM_031935.3(HMCN1):c.451C>T (p.Arg151Trp)
|
|
|
NM_031935.3(HMCN1):c.452G>A (p.Arg151Gln)
|
|
|
NM_031935.3(HMCN1):c.4715G>A (p.Arg1572Gln)
|
|
|
NM_031935.3(HMCN1):c.4844C>T (p.Thr1615Ile)
|
|
|
NM_031935.3(HMCN1):c.4892T>G (p.Phe1631Cys)
|
rs765224895
|
|
NM_031935.3(HMCN1):c.4896T>C (p.His1632=)
|
rs377764090
|
|
NM_031935.3(HMCN1):c.4910-14_4910-13del
|
rs200156765
|
|
NM_031935.3(HMCN1):c.4936G>A (p.Ala1646Thr)
|
|
|
NM_031935.3(HMCN1):c.5300+7G>T
|
rs367562861
|
|
NM_031935.3(HMCN1):c.5327A>T (p.Asp1776Val)
|
rs376847972
|
|
NM_031935.3(HMCN1):c.5546T>A (p.Ile1849Lys)
|
rs756344375
|
|
NM_031935.3(HMCN1):c.5552A>G (p.Asn1851Ser)
|
|
|
NM_031935.3(HMCN1):c.5820G>T (p.Leu1940=)
|
rs1655949105
|
|
NM_031935.3(HMCN1):c.5852-1G>A
|
rs886045673
|
|
NM_031935.3(HMCN1):c.5927T>C (p.Ile1976Thr)
|
|
|
NM_031935.3(HMCN1):c.6075T>C (p.Val2025=)
|
rs886045674
|
|
NM_031935.3(HMCN1):c.6220C>A (p.Gln2074Lys)
|
rs200822474
|
|
NM_031935.3(HMCN1):c.6250G>A (p.Val2084Met)
|
|
|
NM_031935.3(HMCN1):c.6292C>A (p.Leu2098Ile)
|
|
|
NM_031935.3(HMCN1):c.6309G>A (p.Pro2103=)
|
rs367790421
|
|
NM_031935.3(HMCN1):c.6309G>C (p.Pro2103=)
|
rs367790421
|
|
NM_031935.3(HMCN1):c.6733G>A (p.Val2245Ile)
|
|
|
NM_031935.3(HMCN1):c.6897T>A (p.Pro2299=)
|
rs764699819
|
|
NM_031935.3(HMCN1):c.6924G>C (p.Lys2308Asn)
|
|
|
NM_031935.3(HMCN1):c.7307T>C (p.Leu2436Pro)
|
rs886045675
|
|
NM_031935.3(HMCN1):c.7426+8T>C
|
|
|
NM_031935.3(HMCN1):c.7615A>G (p.Asn2539Asp)
|
rs1335242665
|
|
NM_031935.3(HMCN1):c.7809T>G (p.Pro2603=)
|
|
|
NM_031935.3(HMCN1):c.781C>T (p.Arg261Cys)
|
|
|
NM_031935.3(HMCN1):c.782G>A (p.Arg261His)
|
rs753817944
|
|
NM_031935.3(HMCN1):c.7857C>A (p.Asn2619Lys)
|
|
|
NM_031935.3(HMCN1):c.7929A>T (p.Arg2643Ser)
|
rs1658366937
|
|
NM_031935.3(HMCN1):c.7946C>T (p.Thr2649Met)
|
|
|
NM_031935.3(HMCN1):c.8140C>G (p.Pro2714Ala)
|
|
|
NM_031935.3(HMCN1):c.8324G>A (p.Gly2775Glu)
|
|
|
NM_031935.3(HMCN1):c.8579A>G (p.Gln2860Arg)
|
|
|
NM_031935.3(HMCN1):c.8600-14C>G
|
rs1254696195
|
|
NM_031935.3(HMCN1):c.8618G>A (p.Gly2873Glu)
|
rs1659149388
|
|
NM_031935.3(HMCN1):c.8739G>T (p.Leu2913Phe)
|
rs1659158548
|
|
NM_031935.3(HMCN1):c.8876A>G (p.Asn2959Ser)
|
|
|
NM_031935.3(HMCN1):c.9223A>C (p.Thr3075Pro)
|
rs752694815
|
|
NM_031935.3(HMCN1):c.9433C>T (p.Leu3145Phe)
|
rs192222844
|
|
NM_031935.3(HMCN1):c.9474A>G (p.Arg3158=)
|
rs886045677
|
|
NM_031935.3(HMCN1):c.9491C>T (p.Thr3164Met)
|
|
|
NM_031935.3(HMCN1):c.9657T>G (p.Ser3219Arg)
|
rs886045678
|
|
NM_031935.3(HMCN1):c.9771T>G (p.Ser3257Arg)
|
|
|
NM_130837.3(OPA1):c.800_801del (p.Lys267fs)
|
rs794727804
|
|
NM_152443.3(RDH12):c.607A>G (p.Ser203Gly)
|
rs2140145566
|
|
NM_198506.5(LRIT3):c.277G>T (p.Val93Leu)
|
rs1479270315
|
|
NM_198506.5(LRIT3):c.59_61del (p.Leu20del)
|
|
|
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)
|
rs564754426
|
|
NM_201253.3(CRB1):c.849-26A>G
|
rs1558070004
|
|
Single allele
|
|
|