NM_002775.5(HTRA1):c.1274+8G>A
|
rs2672586
|
0.99939
|
NM_001710.6(CFB):c.450A>G (p.Arg150=)
|
rs1048709
|
0.85323
|
NM_000124.4(ERCC6):c.1821+7C>T
|
rs4253132
|
0.84443
|
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=)
|
rs1762114
|
0.78856
|
NM_002775.5(HTRA1):c.1274+14G>A
|
rs2272599
|
0.63755
|
NM_000124.4(ERCC6):c.135C>G (p.Leu45=)
|
rs2228524
|
0.62551
|
NM_000350.3(ABCA4):c.1240-14C>T
|
rs4147830
|
0.47169
|
NM_000124.4(ERCC6):c.*379C>G
|
rs4253234
|
0.31692
|
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=)
|
rs2229760
|
0.31596
|
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=)
|
rs1801555
|
0.27862
|
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg)
|
rs3112831
|
0.25928
|
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=)
|
rs1801574
|
0.23813
|
NM_002775.5(HTRA1):c.102C>T (p.Ala34=)
|
rs1049331
|
0.22934
|
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=)
|
rs4147857
|
0.20473
|
NM_000350.3(ABCA4):c.5836-11G>A
|
rs1800739
|
0.20309
|
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=)
|
rs2275029
|
0.19626
|
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly)
|
rs2228527
|
0.19565
|
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)
|
rs2228526
|
0.19072
|
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg)
|
rs2228529
|
0.18890
|
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp)
|
rs2228528
|
0.17598
|
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_000350.3(ABCA4):c.6730-3T>C
|
rs1800717
|
0.15096
|
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=)
|
rs1801359
|
0.13311
|
NM_000350.3(ABCA4):c.6282+7G>A
|
rs17110761
|
0.13306
|
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_000124.4(ERCC6):c.*1830T>C
|
rs11101137
|
0.09932
|
NM_000124.4(ERCC6):c.*53T>C
|
rs4253231
|
0.09905
|
NM_000124.4(ERCC6):c.411G>A (p.Leu137=)
|
rs4253013
|
0.09896
|
NM_001099667.3(ARMS2):c.*373T>G
|
rs4752698
|
0.09758
|
NM_000350.3(ABCA4):c.1269C>T (p.His423=)
|
rs4147831
|
0.09402
|
NM_000350.3(ABCA4):c.*372A>G
|
rs3747961
|
0.07805
|
NM_000124.4(ERCC6):c.*933G>A
|
rs3750751
|
0.07801
|
NM_000124.4(ERCC6):c.*1964_*1966del
|
rs147228327
|
0.06626
|
NM_000063.6(C2):c.1902+6G>C
|
rs9332730
|
0.05089
|
NM_000350.3(ABCA4):c.635G>A (p.Arg212His)
|
rs6657239
|
0.04939
|
NM_000124.4(ERCC6):c.-78G>T
|
rs4253005
|
0.04162
|
NM_002775.5(HTRA1):c.753C>T (p.Ile251=)
|
rs17624021
|
0.04155
|
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
NM_001710.6(CFB):c.26T>A (p.Leu9His)
|
rs4151667
|
0.03314
|
NM_001710.6(CFB):c.*23C>T
|
rs4151672
|
0.03305
|
NM_001710.6(CFB):c.504G>A (p.Pro168=)
|
rs4151669
|
0.03288
|
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu)
|
rs56142141
|
0.03191
|
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln)
|
rs1801581
|
0.02951
|
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)
|
rs61750126
|
0.02895
|
NM_031935.3(HMCN1):c.*117dup
|
rs397961020
|
0.02844
|
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=)
|
rs77293072
|
0.02574
|
NM_001710.6(CFB):c.754G>A (p.Gly252Ser)
|
rs4151651
|
0.02344
|
NM_001710.6(CFB):c.672C>T (p.Tyr224=)
|
rs4151670
|
0.02070
|
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln)
|
rs61750129
|
0.02065
|
NM_001710.6(CFB):c.1365C>T (p.Val455=)
|
rs2072634
|
0.01961
|
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu)
|
rs4151659
|
0.01851
|
NM_000063.6(C2):c.1922T>C (p.Val641Ala)
|
rs36221133
|
0.01554
|
NM_000350.3(ABCA4):c.*134G>A
|
rs76201551
|
0.01542
|
NM_000124.4(ERCC6):c.528A>G (p.Arg176=)
|
rs4253027
|
0.01480
|
NM_000124.4(ERCC6):c.*1327G>A
|
rs117289374
|
0.01454
|
NM_000350.3(ABCA4):c.2964C>T (p.Leu988=)
|
rs61754034
|
0.01415
|
NM_002775.5(HTRA1):c.77G>A (p.Arg26Gln)
|
rs190036021
|
0.01411
|
NM_002775.5(HTRA1):c.-57C>A
|
rs554513888
|
0.01387
|
NM_001099667.3(ARMS2):c.298-14_298-13insG
|
rs529644268
|
0.01269
|
NM_001710.6(CFB):c.405C>T (p.Tyr135=)
|
rs4151650
|
0.01202
|
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn)
|
rs1800555
|
0.01028
|
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp)
|
rs4253047
|
0.01008
|
NM_000350.3(ABCA4):c.3051-14T>A
|
rs17110922
|
0.01008
|
NM_001710.6(CFB):c.1697A>C (p.Glu566Ala)
|
rs45484591
|
0.00913
|
NM_001710.6(CFB):c.1137C>T (p.Arg379=)
|
rs45600936
|
0.00911
|
NM_002775.5(HTRA1):c.59C>T (p.Ala20Val)
|
rs369149111
|
0.00841
|
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu)
|
rs2229761
|
0.00814
|
NM_000350.3(ABCA4):c.3831G>A (p.Thr1277=)
|
rs75092434
|
0.00783
|
NM_001710.6(CFB):c.1953T>G (p.Asp651Glu)
|
rs4151660
|
0.00673
|
NM_000124.4(ERCC6):c.*1981dup
|
rs557832376
|
0.00515
|
NM_000124.4(ERCC6):c.*2155T>C
|
rs114183603
|
0.00503
|
NM_002775.5(HTRA1):c.473-8G>T
|
rs114877122
|
0.00498
|
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)
|
rs61749417
|
0.00491
|
NM_002775.5(HTRA1):c.337G>T (p.Ala113Ser)
|
rs140088745
|
0.00485
|
NM_000350.3(ABCA4):c.*136G>A
|
rs55665437
|
0.00448
|
NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile)
|
rs114518437
|
0.00425
|
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg)
|
rs149101394
|
0.00391
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_002775.5(HTRA1):c.1221C>T (p.Asp407=)
|
rs11538140
|
0.00305
|
NM_001710.6(CFB):c.1778+9G>A
|
rs188688680
|
0.00301
|
NM_001710.6(CFB):c.858C>T (p.Phe286=)
|
rs117905900
|
0.00285
|
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile)
|
rs145525174
|
0.00246
|
NM_001319074.4(RAX2):c.-331C>T
|
rs150444854
|
0.00246
|
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)
|
rs113106943
|
0.00239
|
NM_002775.5(HTRA1):c.879C>T (p.Thr293=)
|
rs149294320
|
0.00207
|
NM_000350.3(ABCA4):c.*26C>A
|
rs200946608
|
0.00193
|
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr)
|
rs76258939
|
0.00185
|
NM_000350.3(ABCA4):c.6255C>T (p.Leu2085=)
|
rs61748519
|
0.00185
|
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=)
|
rs147884766
|
0.00183
|
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)
|
rs61760163
|
0.00179
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His)
|
rs61752395
|
0.00176
|
NM_001710.6(CFB):c.1143C>T (p.Arg381=)
|
rs150920440
|
0.00175
|
NM_001710.6(CFB):c.724A>C (p.Ile242Leu)
|
rs144812066
|
0.00175
|
NM_000350.3(ABCA4):c.4253+13G>A
|
rs145766145
|
0.00168
|
NM_000350.3(ABCA4):c.-92C>T
|
rs200102393
|
0.00161
|
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met)
|
rs1800549
|
0.00160
|
NM_000063.6(C2):c.2046A>G (p.Ala682=)
|
rs45507391
|
0.00154
|
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met)
|
rs55698015
|
0.00142
|
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)
|
rs145720191
|
0.00137
|
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile)
|
rs61749440
|
0.00133
|
NM_000350.3(ABCA4):c.4050G>C (p.Leu1350=)
|
rs141004967
|
0.00112
|
NM_000063.6(C2):c.1414G>A (p.Ala472Thr)
|
rs142243595
|
0.00105
|
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe)
|
rs201150919
|
0.00100
|
NM_031935.3(HMCN1):c.5851+10del
|
rs375820274
|
0.00091
|
NM_000350.3(ABCA4):c.3547G>T (p.Gly1183Cys)
|
rs75267647
|
0.00066
|
NM_001319074.4(RAX2):c.*477del
|
rs753823753
|
0.00064
|
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp)
|
rs148095899
|
0.00061
|
NM_002775.5(HTRA1):c.1094C>T (p.Thr365Met)
|
rs139620409
|
0.00056
|
NM_002775.5(HTRA1):c.*296C>G
|
rs28665753
|
0.00055
|
NM_001710.6(CFB):c.*47C>T
|
rs375895797
|
0.00052
|
NM_000124.4(ERCC6):c.-15+11G>A
|
rs766986601
|
0.00050
|
NM_000124.4(ERCC6):c.*1279T>A
|
rs189942338
|
0.00048
|
NM_000350.3(ABCA4):c.*299G>C
|
rs538804441
|
0.00048
|
NM_000124.4(ERCC6):c.*1314G>A
|
rs542053472
|
0.00043
|
NM_000124.4(ERCC6):c.3186T>C (p.Ser1062=)
|
rs35365613
|
0.00041
|
NM_000350.3(ABCA4):c.2877C>T (p.Thr959=)
|
rs61754033
|
0.00041
|
NM_002775.5(HTRA1):c.*460C>T
|
rs575641740
|
0.00039
|
NM_000350.3(ABCA4):c.1240-8G>C
|
rs185225547
|
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_000063.6(C2):c.1450A>G (p.Ile484Val)
|
rs145988012
|
0.00031
|
NM_000350.3(ABCA4):c.2744-5C>T
|
rs76305791
|
0.00028
|
NM_006329.4(FBLN5):c.-9G>T
|
rs184393277
|
0.00023
|
NM_000063.6(C2):c.2080-8T>C
|
rs201806170
|
0.00022
|
NM_000350.3(ABCA4):c.1155C>T (p.Ile385=)
|
rs376624031
|
0.00022
|
NM_000350.3(ABCA4):c.4578G>A (p.Thr1526=)
|
rs138831474
|
0.00021
|
NM_002775.5(HTRA1):c.12G>T (p.Pro4=)
|
rs761008513
|
0.00021
|
NM_002775.5(HTRA1):c.245C>G (p.Pro82Arg)
|
rs541204010
|
0.00021
|
NM_001710.6(CFB):c.1407C>G (p.Ile469Met)
|
rs201798809
|
0.00019
|
NM_001710.6(CFB):c.221G>A (p.Arg74His)
|
rs117314762
|
0.00019
|
NM_002775.5(HTRA1):c.*446G>A
|
rs555692792
|
0.00019
|
NM_002775.5(HTRA1):c.451C>A (p.Gln151Lys)
|
rs754645487
|
0.00019
|
NM_000350.3(ABCA4):c.3607+13C>T
|
rs374630957
|
0.00017
|
NM_001710.6(CFB):c.2100C>T (p.Gly700=)
|
rs116928087
|
0.00017
|
NM_000063.6(C2):c.*82C>T
|
rs747202032
|
0.00016
|
NM_000350.3(ABCA4):c.*147C>T
|
rs773349580
|
0.00016
|
NM_031935.3(HMCN1):c.16773G>A (p.Val5591=)
|
rs145772673
|
0.00016
|
NM_000124.4(ERCC6):c.2697G>A (p.Thr899=)
|
rs761802751
|
0.00015
|
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=)
|
rs201602424
|
0.00014
|
NM_001710.6(CFB):c.291G>A (p.Glu97=)
|
rs138236643
|
0.00014
|
NM_000063.6(C2):c.1902+5G>A
|
rs201711512
|
0.00013
|
NM_000350.3(ABCA4):c.741C>T (p.Asn247=)
|
rs372976742
|
0.00013
|
NM_002775.5(HTRA1):c.1333G>A (p.Ala445Thr)
|
rs371279115
|
0.00013
|
NM_002775.5(HTRA1):c.176G>C (p.Arg59Pro)
|
rs1246114252
|
0.00012
|
NM_002775.5(HTRA1):c.472+6C>A
|
rs550039968
|
0.00012
|
NM_002775.5(HTRA1):c.834C>T (p.Phe278=)
|
rs141130635
|
0.00012
|
NM_000063.6(C2):c.1577A>G (p.Lys526Arg)
|
rs146054348
|
0.00011
|
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys)
|
rs138157885
|
0.00011
|
NM_031935.3(HMCN1):c.15439+14dup
|
rs759693498
|
0.00011
|
NM_000350.3(ABCA4):c.*55G>T
|
rs201160433
|
0.00010
|
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=)
|
rs570745701
|
0.00010
|
NM_000350.3(ABCA4):c.6340G>A (p.Val2114Met)
|
rs202127235
|
0.00009
|
NM_031935.3(HMCN1):c.1406C>A (p.Thr469Lys)
|
rs200897962
|
0.00008
|
NM_000350.3(ABCA4):c.2517C>T (p.Ser839=)
|
rs138246242
|
0.00007
|
NM_001710.6(CFB):c.1838C>T (p.Thr613Ile)
|
rs201754399
|
0.00007
|
NM_001710.6(CFB):c.784G>A (p.Val262Ile)
|
rs200645483
|
0.00007
|
NM_002775.5(HTRA1):c.1350C>T (p.Asp450=)
|
rs374675648
|
0.00007
|
NM_002775.5(HTRA1):c.777+14C>T
|
rs201190236
|
0.00007
|
NM_006329.4(FBLN5):c.224T>C (p.Val75Ala)
|
rs145108467
|
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_000350.3(ABCA4):c.2646C>T (p.Gly882=)
|
rs180921875
|
0.00006
|
NM_000350.3(ABCA4):c.5197-4C>T
|
rs758825834
|
0.00006
|
NM_002775.5(HTRA1):c.843C>T (p.Ala281=)
|
rs202167109
|
0.00006
|
NM_000350.3(ABCA4):c.4848+13T>C
|
rs374196141
|
0.00005
|
NM_001319074.4(RAX2):c.*1145G>A
|
rs886054365
|
0.00005
|
NM_001710.6(CFB):c.1548G>A (p.Val516=)
|
rs553118090
|
0.00005
|
NM_000063.6(C2):c.1360+1G>A
|
rs140225293
|
0.00004
|
NM_000350.3(ABCA4):c.3586A>T (p.Thr1196Ser)
|
rs370967816
|
0.00004
|
NM_000350.3(ABCA4):c.5406C>T (p.Ile1802=)
|
rs202199507
|
0.00004
|
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=)
|
rs191506332
|
0.00004
|
NM_001710.6(CFB):c.274A>T (p.Thr92Ser)
|
rs369638886
|
0.00004
|
NM_001710.6(CFB):c.604C>T (p.Arg202Trp)
|
rs537478097
|
0.00004
|
NM_002775.5(HTRA1):c.1260T>A (p.Asp420Glu)
|
rs144118239
|
0.00004
|
NM_000350.3(ABCA4):c.1319A>G (p.Tyr440Cys)
|
rs770439859
|
0.00003
|
NM_000350.3(ABCA4):c.1493A>G (p.Asp498Gly)
|
rs147135304
|
0.00003
|
NM_000350.3(ABCA4):c.3670T>G (p.Cys1224Gly)
|
rs762213896
|
0.00003
|
NM_001710.6(CFB):c.*16A>T
|
rs749158582
|
0.00003
|
NM_001710.6(CFB):c.-3G>A
|
rs755016493
|
0.00003
|
NM_001710.6(CFB):c.1227A>G (p.Leu409=)
|
rs761050063
|
0.00003
|
NM_001710.6(CFB):c.1593T>C (p.Asp531=)
|
rs886061296
|
0.00003
|
NM_001710.6(CFB):c.321C>T (p.His107=)
|
rs767428982
|
0.00003
|
NM_002775.5(HTRA1):c.10C>T (p.Pro4Ser)
|
rs1325725955
|
0.00003
|
NM_000350.3(ABCA4):c.3063T>G (p.Ala1021=)
|
rs886046565
|
0.00002
|
NM_000350.3(ABCA4):c.4194C>T (p.Gly1398=)
|
rs763857670
|
0.00002
|
NM_000350.3(ABCA4):c.4256T>C (p.Met1419Thr)
|
rs142673376
|
0.00002
|
NM_001710.6(CFB):c.1290C>T (p.Val430=)
|
rs201619743
|
0.00002
|
NM_001710.6(CFB):c.720G>A (p.Glu240=)
|
rs753831049
|
0.00002
|
NM_000063.6(C2):c.1835G>A (p.Ser612Asn)
|
rs573509224
|
0.00001
|
NM_000064.4(C3):c.1767C>T (p.His589=)
|
rs775843240
|
0.00001
|
NM_000064.4(C3):c.2403G>A (p.Thr801=)
|
rs886054654
|
0.00001
|
NM_000064.4(C3):c.2450T>A (p.Val817Glu)
|
rs886054653
|
0.00001
|
NM_000124.4(ERCC6):c.4391G>C (p.Cys1464Ser)
|
rs759125039
|
0.00001
|
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg)
|
rs775661924
|
0.00001
|
NM_000350.3(ABCA4):c.331G>C (p.Glu111Gln)
|
rs766512063
|
0.00001
|
NM_000350.3(ABCA4):c.4510G>A (p.Glu1504Lys)
|
rs190370456
|
0.00001
|
NM_000350.3(ABCA4):c.4573C>T (p.Leu1525=)
|
rs774957381
|
0.00001
|
NM_000350.3(ABCA4):c.4945C>T (p.Pro1649Ser)
|
rs886046563
|
0.00001
|
NM_001710.6(CFB):c.1762T>C (p.Tyr588His)
|
rs1364257553
|
0.00001
|
NM_001710.6(CFB):c.1956+10G>A
|
rs545348156
|
0.00001
|
NM_001710.6(CFB):c.917A>G (p.Lys306Arg)
|
rs374738591
|
0.00001
|
NM_002775.5(HTRA1):c.*217T>A
|
rs886046773
|
0.00001
|
NM_002775.5(HTRA1):c.385C>T (p.Leu129=)
|
rs757237545
|
0.00001
|
NM_002775.5(HTRA1):c.578C>T (p.Pro193Leu)
|
rs748367895
|
0.00001
|
NM_002775.5(HTRA1):c.770A>C (p.Asp257Ala)
|
rs1199033479
|
0.00001
|
NM_002775.5(HTRA1):c.844A>C (p.Ile282Leu)
|
rs1329676998
|
0.00001
|
NM_031935.3(HMCN1):c.16754A>C (p.Glu5585Ala)
|
rs771757920
|
0.00001
|
NM_031935.3(HMCN1):c.7589C>G (p.Ser2530Cys)
|
rs573119781
|
0.00001
|
NM_000063.6(C2):c.*183C>T
|
rs567255004
|
|
NM_000063.6(C2):c.81C>T (p.Asn27=)
|
rs201336507
|
|
NM_000064.4(C3):c.-3_-2dup
|
rs528697923
|
|
NM_000064.4(C3):c.2048-14_2048-13del
|
rs140718871
|
|
NM_000064.4(C3):c.4120+8G>T
|
rs886054652
|
|
NM_000124.4(ERCC6):c.*232dup
|
rs74561842
|
|
NM_000124.4(ERCC6):c.*2337A>C
|
rs557944846
|
|
NM_000124.4(ERCC6):c.-87C>A
|
rs4253004
|
|
NM_000124.4(ERCC6):c.2481AGA[2] (p.Glu829del)
|
rs886047036
|
|
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro)
|
rs4253211
|
|
NM_000124.4(ERCC6):c.4438_4440del (p.Ser1480del)
|
rs886047032
|
|
NM_000186.4(CFH):c.428-3C>T
|
rs886045744
|
|
NM_000350.3(ABCA4):c.1356+10dup
|
rs281865386
|
|
NM_000350.3(ABCA4):c.1356+14dup
|
rs886046567
|
|
NM_000350.3(ABCA4):c.1356+5_1356+6insC
|
rs1553193877
|
|
NM_000350.3(ABCA4):c.1356+6_1356+7insC
|
rs886046568
|
|
NM_000350.3(ABCA4):c.2278C>G (p.Leu760Val)
|
rs886046566
|
|
NM_000350.3(ABCA4):c.2875A>G (p.Thr959Ala)
|
rs368846708
|
|
NM_000350.3(ABCA4):c.3840_3845del (p.1279DS[1])
|
rs62642572
|
|
NM_000350.3(ABCA4):c.3947A>C (p.Asp1316Ala)
|
rs746468013
|
|
NM_000350.3(ABCA4):c.3977C>G (p.Ala1326Gly)
|
rs761989194
|
|
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=)
|
rs1801666
|
|
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=)
|
rs1801666
|
|
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu)
|
rs886046564
|
|
NM_000350.3(ABCA4):c.468C>T (p.Ile156=)
|
rs148091207
|
|
NM_000350.3(ABCA4):c.4749T>A (p.Leu1583=)
|
rs754531924
|
|
NM_000350.3(ABCA4):c.4774-17_4774-16del
|
rs55860151
|
|
NM_000350.3(ABCA4):c.5121C>A (p.Asn1707Lys)
|
rs886046562
|
|
NM_000350.3(ABCA4):c.5460+6C>T
|
rs886046561
|
|
NM_000350.3(ABCA4):c.5610C>A (p.Phe1870Leu)
|
rs886046560
|
|
NM_000350.3(ABCA4):c.5953C>T (p.Leu1985Phe)
|
rs886046559
|
|
NM_000350.3(ABCA4):c.6416G>C (p.Arg2139Pro)
|
rs761867791
|
|
NM_000350.3(ABCA4):c.791G>A (p.Arg264His)
|
rs567985213
|
|
NM_001099667.3(ARMS2):c.*377dup
|
rs886046772
|
|
NM_001099667.3(ARMS2):c.298-13A>G
|
rs7088128
|
|
NM_001099667.3(ARMS2):c.298-13A>T
|
rs7088128
|
|
NM_001099667.3(ARMS2):c.298-4del
|
rs369018824
|
|
NM_001319074.4(RAX2):c.*1082_*1092del
|
rs143816706
|
|
NM_001319074.4(RAX2):c.*1205G>A
|
rs886054364
|
|
NM_001319074.4(RAX2):c.*721_*724del
|
rs138512126
|
|
NM_001710.5(CFB):c.-186delG
|
rs796979529
|
|
NM_001710.5(CFB):c.-199T>C
|
rs1771399314
|
|
NM_001710.6(CFB):c.1037-10C>G
|
rs201659953
|
|
NM_001710.6(CFB):c.1037-10C>T
|
rs201659953
|
|
NM_001710.6(CFB):c.1524C>A (p.His508Gln)
|
rs138207668
|
|
NM_001710.6(CFB):c.1524C>T (p.His508=)
|
rs138207668
|
|
NM_001710.6(CFB):c.1803G>A (p.Glu601=)
|
rs377025675
|
|
NM_001710.6(CFB):c.1889C>T (p.Ala630Val)
|
rs886061297
|
|
NM_001710.6(CFB):c.2069C>T (p.Ala690Val)
|
rs1403720810
|
|
NM_001710.6(CFB):c.334G>C (p.Gly112Arg)
|
rs950175817
|
|
NM_001710.6(CFB):c.656A>T (p.Gln219Leu)
|
rs886061295
|
|
NM_002775.5(HTRA1):c.*191G>T
|
rs562876149
|
|
NM_002775.5(HTRA1):c.108G>C (p.Gly36=)
|
rs2293870
|
|
NM_002775.5(HTRA1):c.108G>T (p.Gly36=)
|
rs2293870
|
|
NM_002775.5(HTRA1):c.133C>T (p.Arg45Cys)
|
rs1473219900
|
|
NM_002775.5(HTRA1):c.33_34insTCC (p.Leu11_Leu12insSer)
|
rs541533723
|
|
NM_002775.5(HTRA1):c.34C>T (p.Leu12=)
|
rs996483189
|
|
NM_002775.5(HTRA1):c.840C>A (p.Val280=)
|
rs141925572
|
|
NM_006329.4(FBLN5):c.-441del
|
rs556678788
|
|
NM_031935.3(HMCN1):c.*656TAA[3]
|
rs886045695
|
|
NM_031935.3(HMCN1):c.*775_*778del
|
rs201927661
|
|
NM_031935.3(HMCN1):c.*836dup
|
rs146952459
|
|
NM_031935.3(HMCN1):c.-13dup
|
rs752517345
|
|
NM_031935.3(HMCN1):c.-25dup
|
rs545770705
|
|
NM_031935.3(HMCN1):c.14609-6dup
|
rs759638529
|
|
NM_031935.3(HMCN1):c.16032ACA[1] (p.Gln5345del)
|
rs780673178
|
|
NM_031935.3(HMCN1):c.4910-14_4910-13del
|
rs200156765
|
|