NM_000065.5(C6):c.1881C>T (p.Asp627=)
|
rs6866352
|
0.99985
|
NM_000064.4(C3):c.1686+78C>T
|
rs189367
|
0.99827
|
NM_000066.4(C8B):c.349G>A (p.Gly117Arg)
|
rs1013579
|
0.97877
|
NM_000204.5(CFI):c.941-49C>G
|
rs7441380
|
0.96948
|
NM_000204.5(CFI):c.772+61G>A
|
rs4382037
|
0.96727
|
NM_000204.5(CFI):c.884-63C>A
|
rs7437142
|
0.96722
|
NM_000204.5(CFI):c.*112C>T
|
rs551
|
0.94881
|
NM_000064.4(C3):c.3646+98A>G
|
rs237554
|
0.87336
|
NM_001710.6(CFB):c.450A>G (p.Arg150=)
|
rs1048709
|
0.85323
|
NM_000066.4(C8B):c.1622-20A>G
|
rs605648
|
0.84486
|
NM_000064.4(C3):c.4546+58A>G
|
rs344555
|
0.80027
|
NM_001378373.1(MBL2):c.378C>G (p.Leu126=)
|
rs930507
|
0.77778
|
NM_002473.6(MYH9):c.1728+10G>A
|
rs2413396
|
0.77118
|
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_000361.3(THBD):c.*1918G>A
|
rs1962
|
0.75190
|
NM_000064.4(C3):c.2950+48T>C
|
rs2287848
|
0.70105
|
NM_006610.4(MASP2):c.*225T>C
|
rs1033638
|
0.69325
|
NM_000064.4(C3):c.2863+47G>C
|
rs2287846
|
0.67951
|
NM_006610.4(MASP2):c.1479C>T (p.Ser493=)
|
rs1782455
|
0.67756
|
NM_000064.4(C3):c.2797-21C>A
|
rs2355315
|
0.67336
|
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_001243133.2(NLRP3):c.*230G>C
|
rs10754558
|
0.63911
|
NM_000186.4(CFH):c.1204C>T (p.His402Tyr)
|
rs1061170
|
0.63625
|
NM_006610.4(MASP2):c.1111G>T (p.Asp371Tyr)
|
rs12711521
|
0.62832
|
NM_000186.4(CFH):c.921A>C (p.Ala307=)
|
rs1061147
|
0.61990
|
NM_001710.6(CFB):c.2140-74A>G
|
rs2072633
|
0.58857
|
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_015991.4(C1QA):c.276A>G (p.Gly92=)
|
rs172378
|
0.48561
|
NM_001378373.1(MBL2):c.*1691G>A
|
rs10824792
|
0.47567
|
NM_000186.4(CFH):c.1419G>A (p.Ala473=)
|
rs2274700
|
0.43407
|
NM_172351.3(CD46):c.*897T>C
|
rs7144
|
0.40706
|
NM_000186.4(CFH):c.59-36C>T
|
rs551397
|
0.40527
|
NM_000186.4(CFH):c.184G>A (p.Val62Ile)
|
rs800292
|
0.40446
|
NM_000064.4(C3):c.1692G>A (p.Val564=)
|
rs2230204
|
0.36996
|
NM_001378373.1(MBL2):c.*2219A>C
|
rs2083771
|
0.33140
|
NM_001378373.1(MBL2):c.*2388T>G
|
rs2506
|
0.33130
|
NM_001378373.1(MBL2):c.*2048A>G
|
rs2099902
|
0.33061
|
NM_000361.3(THBD):c.*793A>G
|
rs1042580
|
0.32212
|
NM_000562.3(C8A):c.277C>A (p.Gln93Lys)
|
rs652785
|
0.31666
|
NM_000204.5(CFI):c.804G>A (p.Ser268=)
|
rs2298749
|
0.30706
|
NM_000242.2(MBL2):c.-66C>T
|
rs7095891
|
0.30009
|
NM_001378373.1(MBL2):c.*1275T>C
|
rs10082466
|
0.29126
|
NM_001378373.1(MBL2):c.*1879A>C
|
rs2120131
|
0.28974
|
NM_001378373.1(MBL2):c.*1913C>T
|
rs2165813
|
0.28952
|
NM_001378373.1(MBL2):c.*1857A>G
|
rs2120132
|
0.28951
|
NM_001378373.1(MBL2):c.*2040G>T
|
rs2099903
|
0.28799
|
NM_030787.4(CFHR5):c.-20T>C
|
rs9427662
|
0.19169
|
NM_001710.5(CFB):c.94C>T (p.Arg32Trp)
|
rs12614
|
0.17324
|
NM_000064.4(C3):c.912G>A (p.Arg304=)
|
rs2230201
|
0.15982
|
NM_000361.3(THBD):c.*1001A>C
|
rs3176123
|
0.15095
|
NM_000361.3(THBD):c.1418C>T (p.Ala473Val)
|
rs1042579
|
0.15009
|
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_000064.4(C3):c.1836G>A (p.Thr612=)
|
rs2230205
|
0.13947
|
NM_000064.4(C3):c.941C>T (p.Pro314Leu)
|
rs1047286
|
0.13563
|
NM_000063.6(C2):c.1023G>A (p.Ala341=)
|
rs1042663
|
0.11857
|
NM_001710.5(CFB):c.95G>A (p.Arg32Gln)
|
rs641153
|
0.11820
|
NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp)
|
rs1800450
|
0.11335
|
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_004621.6(TRPC6):c.-254C>G
|
rs3824934
|
0.08690
|
NM_006610.4(MASP2):c.891G>A (p.Ala297=)
|
rs12142107
|
0.08579
|
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_006610.4(MASP2):c.729C>T (p.Tyr243=)
|
rs7536030
|
0.08173
|
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu)
|
rs1800451
|
0.08024
|
NM_000064.4(C3):c.4631-8C>T
|
rs11569565
|
0.06993
|
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile)
|
rs515299
|
0.06393
|
NM_000091.5(COL4A3):c.3807C>A (p.Asp1269Glu)
|
rs57611801
|
0.06070
|
NM_006610.4(MASP2):c.1130T>C (p.Val377Ala)
|
rs2273346
|
0.05757
|
NM_000063.6(C2):c.1902+6G>C
|
rs9332730
|
0.05089
|
NM_000064.4(C3):c.2715C>T (p.Thr905=)
|
rs2230208
|
0.04973
|
NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys)
|
rs5030737
|
0.04964
|
NM_000064.4(C3):c.2430G>A (p.Ser810=)
|
rs2230207
|
0.04934
|
NM_001378373.1(MBL2):c.*1135A>G
|
rs11595876
|
0.04693
|
NM_000186.3(CFH):c.-195T>C
|
rs35836460
|
0.04685
|
NM_004646.4(NPHS1):c.1223G>A (p.Arg408Gln)
|
rs33950747
|
0.04436
|
NM_172351.3(CD46):c.*1875T>G
|
rs1237
|
0.04298
|
NM_001378373.1(MBL2):c.*1711T>G
|
rs12254557
|
0.04213
|
NM_000361.3(THBD):c.*351A>G
|
rs11696919
|
0.04028
|
NM_006610.4(MASP2):c.377C>T (p.Pro126Leu)
|
rs56392418
|
0.03726
|
NM_000186.4(CFH):c.1160-15T>C
|
rs34815383
|
0.03666
|
NM_001375278.1(CFI):c.1558+1812A>G
|
rs28361433
|
0.03412
|
NM_001710.6(CFB):c.26T>A (p.Leu9His)
|
rs4151667
|
0.03314
|
NM_000063.6(C2):c.954G>C (p.Glu318Asp)
|
rs9332739
|
0.03307
|
NM_001710.6(CFB):c.*23C>T
|
rs4151672
|
0.03305
|
NM_002473.6(MYH9):c.3345A>G (p.Glu1115=)
|
rs875725
|
0.03292
|
NM_001710.6(CFB):c.504G>A (p.Pro168=)
|
rs4151669
|
0.03288
|
NM_000092.5(COL4A4):c.1634G>C (p.Gly545Ala)
|
rs1800516
|
0.03182
|
NM_172351.3(CD46):c.*1435T>C
|
rs14374
|
0.03161
|
NM_006610.4(MASP2):c.1316G>A (p.Arg439His)
|
rs12085877
|
0.02961
|
NM_000361.3(THBD):c.*87T>G
|
rs3176133
|
0.02931
|
NM_002473.6(MYH9):c.4563C>T (p.His1521=)
|
rs11549907
|
0.02903
|
NM_000361.3(THBD):c.-58G>C
|
rs13306849
|
0.02804
|
NM_000092.5(COL4A4):c.2276C>T (p.Pro759Leu)
|
rs36121515
|
0.02697
|
NM_000091.5(COL4A3):c.547-9A>C
|
rs55667591
|
0.02682
|
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu)
|
rs73996414
|
0.02579
|
NM_006610.4(MASP2):c.555C>T (p.Ser185=)
|
rs78775425
|
0.02482
|
NM_000186.3(CFH):c.-79A>G
|
rs35906110
|
0.02400
|
NM_001710.6(CFB):c.754G>A (p.Gly252Ser)
|
rs4151651
|
0.02344
|
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly)
|
rs72550870
|
0.02284
|
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His)
|
rs34248917
|
0.02256
|
NM_172351.3(CD46):c.1083-10C>T
|
rs41317997
|
0.02234
|
NM_007375.4(TARDBP):c.*2331A>G
|
rs114897688
|
0.02160
|
NM_006610.4(MASP2):c.296G>A (p.Arg99Gln)
|
rs61735600
|
0.02122
|
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr)
|
rs35343172
|
0.02118
|
NM_001710.6(CFB):c.672C>T (p.Tyr224=)
|
rs4151670
|
0.02070
|
NM_001378373.1(MBL2):c.408C>T (p.Asn136=)
|
rs35805975
|
0.02062
|
NM_021023.6(CFHR3):c.424C>T (p.Arg142Cys)
|
rs61737525
|
0.02034
|
NM_172351.3(CD46):c.*503A>G
|
rs2724390
|
0.02021
|
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=)
|
rs75519005
|
0.01995
|
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr)
|
rs35274867
|
0.01982
|
NM_001710.6(CFB):c.1365C>T (p.Val455=)
|
rs2072634
|
0.01961
|
NM_000186.4(CFH):c.*98C>T
|
rs35742764
|
0.01872
|
NM_006610.4(MASP2):c.882G>A (p.Thr294=)
|
rs61735598
|
0.01862
|
NM_001710.6(CFB):c.1693A>G (p.Lys565Glu)
|
rs4151659
|
0.01851
|
NM_001378373.1(MBL2):c.*865A>C
|
rs55714260
|
0.01839
|
NM_030787.4(CFHR5):c.1067G>A (p.Arg356His)
|
rs35662416
|
0.01746
|
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_172351.3(CD46):c.1013C>T (p.Ala338Val)
|
rs35366573
|
0.01505
|
NM_000204.5(CFI):c.884-7T>C
|
rs140555685
|
0.01504
|
NM_000186.4(CFH):c.1428A>G (p.Gln476=)
|
rs34399588
|
0.01440
|
NM_000186.4(CFH):c.2236+8T>A
|
rs7537967
|
0.01429
|
NM_000204.5(CFI):c.482+14T>A
|
rs76014294
|
0.01365
|
NM_000064.4(C3):c.1407G>C (p.Glu469Asp)
|
rs11569422
|
0.01362
|
NM_006610.4(MASP2):c.1617T>C (p.Asn539=)
|
rs72550845
|
0.01301
|
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu)
|
rs13027659
|
0.01279
|
NM_172351.3(CD46):c.*918G>A
|
rs6664092
|
0.01233
|
NM_001710.6(CFB):c.405C>T (p.Tyr135=)
|
rs4151650
|
0.01202
|
NM_000361.3(THBD):c.*2143C>T
|
rs3176126
|
0.01185
|
NM_000064.4(C3):c.783C>T (p.Tyr261=)
|
rs2230200
|
0.01155
|
NM_030787.4(CFHR5):c.136C>T (p.Pro46Ser)
|
rs12097550
|
0.01068
|
NM_000064.4(C3):c.741C>T (p.Asn247=)
|
rs11569571
|
0.01041
|
NM_004646.4(NPHS1):c.1930+10C>T
|
rs76131336
|
0.01025
|
NM_021023.6(CFHR3):c.720G>C (p.Gln240His)
|
rs149347641
|
0.01005
|
NM_000064.4(C3):c.4457-5C>T
|
rs344554
|
0.00979
|
NM_000361.3(THBD):c.*1993T>C
|
rs3176136
|
0.00972
|
NM_002473.6(MYH9):c.1108+9C>T
|
rs145751072
|
0.00959
|
NM_000204.5(CFI):c.1534+5G>T
|
rs114013791
|
0.00951
|
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_001378373.1(MBL2):c.*1134C>T
|
rs11003121
|
0.00880
|
NM_000065.5(C6):c.1189A>G (p.Lys397Glu)
|
rs6896011
|
0.00878
|
NM_000204.5(CFI):c.*7G>T
|
rs80173133
|
0.00861
|
NM_000204.5(CFI):c.*144T>C
|
rs77449037
|
0.00857
|
NM_001201550.3(CFHR4):c.228T>C (p.Asp76=)
|
rs145744152
|
0.00846
|
NM_006610.4(MASP2):c.408C>T (p.Ala136=)
|
rs138386377
|
0.00838
|
NM_000361.3(THBD):c.*277G>A
|
rs3176134
|
0.00836
|
NM_000186.4(CFH):c.2634C>T (p.His878=)
|
rs35292876
|
0.00829
|
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser)
|
rs139017763
|
0.00815
|
NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys)
|
rs61737523
|
0.00809
|
NM_000361.3(THBD):c.*497G>A
|
rs3176122
|
0.00808
|
NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer)
|
rs769938205
|
0.00770
|
NM_006610.4(MASP2):c.33T>C (p.Cys11=)
|
rs61735592
|
0.00763
|
NM_000186.4(CFH):c.1159+19T>G
|
rs35695425
|
0.00756
|
NM_000065.5(C6):c.2087A>G (p.Asp696Gly)
|
rs41271067
|
0.00752
|
NM_000186.4(CFH):c.3102T>C (p.Asn1034=)
|
rs34594237
|
0.00750
|
NM_033380.3(COL4A5):c.1992G>T (p.Lys664Asn)
|
rs34077552
|
0.00745
|
NM_001378373.1(MBL2):c.*2702G>A
|
rs114932753
|
0.00736
|
NM_001710.6(CFB):c.1953T>G (p.Asp651Glu)
|
rs4151660
|
0.00673
|
NM_000361.3(THBD):c.*321G>T
|
rs56354707
|
0.00668
|
NM_006610.4(MASP2):c.1243G>A (p.Asp415Asn)
|
rs61735593
|
0.00658
|
NM_000064.4(C3):c.1976-19C>T
|
rs11569433
|
0.00656
|
NM_000361.3(THBD):c.1504G>C (p.Gly502Arg)
|
rs76135678
|
0.00655
|
NM_000064.4(C3):c.1653G>T (p.Val551=)
|
rs344534
|
0.00648
|
NM_000204.5(CFI):c.1206C>T (p.Pro402=)
|
rs115780371
|
0.00646
|
NM_000361.3(THBD):c.*759A>T
|
rs73611750
|
0.00628
|
NM_000361.3(THBD):c.1092G>A (p.Glu364=)
|
rs73901577
|
0.00611
|
NM_000204.5(CFI):c.315A>T (p.Thr105=)
|
rs61745205
|
0.00608
|
NM_006610.4(MASP2):c.60G>A (p.Pro20=)
|
rs61432273
|
0.00601
|
NM_000204.5(CFI):c.1217G>A (p.Arg406His)
|
rs74817407
|
0.00599
|
NM_172351.3(CD46):c.417A>G (p.Leu139=)
|
rs12126088
|
0.00583
|
NM_006610.4(MASP2):c.*189G>A
|
rs116311214
|
0.00581
|
NM_006610.4(MASP2):c.470A>G (p.His157Arg)
|
rs144247267
|
0.00581
|
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp)
|
rs11569534
|
0.00573
|
NM_006610.4(MASP2):c.467G>A (p.Cys156Tyr)
|
rs41307788
|
0.00558
|
NM_006610.4(MASP2):c.234+13C>T
|
rs72647262
|
0.00557
|
NM_001378373.1(MBL2):c.*1694G>T
|
rs35327474
|
0.00547
|
NM_006610.4(MASP2):c.881C>T (p.Thr294Met)
|
rs139962539
|
0.00544
|
NM_001378373.1(MBL2):c.*1136A>G
|
rs115639140
|
0.00540
|
NM_000065.5(C6):c.542C>T (p.Thr181Ile)
|
rs114609505
|
0.00539
|
NM_001735.3(C5):c.3098T>C (p.Ile1033Thr)
|
rs41311881
|
0.00529
|
NM_001710.6(CFB):c.600C>T (p.Ser200=)
|
rs113197809
|
0.00527
|
NM_000361.3(THBD):c.40G>A (p.Gly14Ser)
|
rs191884040
|
0.00483
|
NM_000064.4(C3):c.3970-8C>T
|
rs11569540
|
0.00476
|
NM_000063.6(C2):c.2200C>T (p.Arg734Cys)
|
rs4151648
|
0.00474
|
NM_024426.6(WT1):c.1114-9T>C
|
rs5030274
|
0.00465
|
NM_000361.3(THBD):c.*1562G>T
|
rs183647515
|
0.00453
|
NM_000361.3(THBD):c.*520C>G
|
rs41282276
|
0.00453
|
NM_006610.4(MASP2):c.*184C>T
|
rs115750484
|
0.00452
|
NM_002473.6(MYH9):c.1083C>T (p.Asp361=)
|
rs56001030
|
0.00436
|
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_000186.4(CFH):c.-36G>C
|
rs140356702
|
0.00418
|
NM_172351.3(CD46):c.453C>T (p.Ser151=)
|
rs145041158
|
0.00408
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
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_001378373.1(MBL2):c.*2450A>T
|
rs56325023
|
0.00387
|
NM_000064.4(C3):c.3958C>A (p.Arg1320=)
|
rs141718696
|
0.00386
|
NM_000063.6(C2):c.443-4G>A
|
rs9332719
|
0.00380
|
NM_001378373.1(MBL2):c.*2727G>T
|
rs138449358
|
0.00372
|
NM_000204.5(CFI):c.1246A>C (p.Ile416Leu)
|
rs61733901
|
0.00369
|
NM_172351.3(CD46):c.796G>A (p.Asp266Asn)
|
rs17006830
|
0.00369
|
NM_172351.3(CD46):c.861G>A (p.Ser287=)
|
rs17006843
|
0.00368
|
NM_000361.3(THBD):c.*1469C>T
|
rs3176124
|
0.00363
|
NM_001734.5(C1S):c.943G>A (p.Asp315Asn)
|
rs117907409
|
0.00349
|
NM_001735.3(C5):c.3033G>C (p.Glu1011Asp)
|
rs150096192
|
0.00349
|
NM_000064.4(C3):c.-28C>G
|
rs339394
|
0.00341
|
NM_000562.3(C8A):c.1331G>A (p.Arg444His)
|
rs143908758
|
0.00334
|
NM_015991.4(C1QA):c.67G>A (p.Glu23Lys)
|
rs17887074
|
0.00330
|
NM_000065.5(C6):c.1879del (p.Asp627fs)
|
rs61469168
|
0.00328
|
NM_006610.4(MASP2):c.1064A>T (p.Asp355Val)
|
rs61735596
|
0.00303
|
NM_001710.6(CFB):c.1778+9G>A
|
rs188688680
|
0.00301
|
NM_001378373.1(MBL2):c.*2207G>A
|
rs191761980
|
0.00290
|
NM_000064.4(C3):c.600-14C>T
|
rs3745558
|
0.00289
|
NM_001710.6(CFB):c.858C>T (p.Phe286=)
|
rs117905900
|
0.00285
|
NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr)
|
rs41348347
|
0.00281
|
NM_005141.5(FGB):c.794C>T (p.Pro265Leu)
|
rs6054
|
0.00275
|
NM_000186.4(CFH):c.428-14T>C
|
rs184188486
|
0.00271
|
NM_000186.4(CFH):c.3150T>C (p.Asn1050=)
|
rs113347629
|
0.00269
|
NM_001378156.1(C1QB):c.543C>T (p.Asn181=)
|
rs149612866
|
0.00265
|
NM_172351.3(CD46):c.-11C>A
|
rs74477032
|
0.00262
|
NM_172351.3(CD46):c.38C>T (p.Ser13Phe)
|
rs138843816
|
0.00262
|
NM_000064.4(C3):c.4878T>C (p.Thr1626=)
|
rs1803223
|
0.00261
|
NM_000361.3(THBD):c.127G>A (p.Ala43Thr)
|
rs1800576
|
0.00255
|
NM_000064.4(C3):c.463A>C (p.Lys155Gln)
|
rs147859257
|
0.00250
|
NM_030787.4(CFHR5):c.732C>T (p.Asn244=)
|
rs41306229
|
0.00250
|
NM_003665.4(FCN3):c.750C>T (p.His250=)
|
rs28385652
|
0.00249
|
NM_000361.3(THBD):c.*1171C>G
|
rs143450327
|
0.00245
|
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg)
|
rs41278047
|
0.00243
|
NM_000064.4(C3):c.4631-9C>T
|
rs116302413
|
0.00242
|
NM_000065.5(C6):c.2381+2T>C
|
rs76202909
|
0.00242
|
NM_172351.3(CD46):c.926C>T (p.Pro309Leu)
|
rs41317833
|
0.00241
|
NM_000064.4(C3):c.2394C>T (p.Ser798=)
|
rs112178657
|
0.00237
|
NM_000361.3(THBD):c.*1770T>C
|
rs113252822
|
0.00232
|
NM_001378373.1(MBL2):c.*447G>C
|
rs374583038
|
0.00228
|
NM_000186.4(CFH):c.3207T>C (p.Ser1069=)
|
rs62641697
|
0.00219
|
NM_001378373.1(MBL2):c.*1498C>T
|
rs56009657
|
0.00213
|
NM_000064.4(C3):c.1686+20G>A
|
rs76024222
|
0.00212
|
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)
|
rs36220240
|
0.00209
|
NM_000065.5(C6):c.1138del (p.Gln380fs)
|
rs375762365
|
0.00206
|
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln)
|
rs7437875
|
0.00206
|
NM_000064.4(C3):c.2203C>T (p.Arg735Trp)
|
rs117793540
|
0.00198
|
NM_006610.4(MASP2):c.263C>T (p.Thr88Met)
|
rs61735601
|
0.00197
|
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu)
|
rs1800579
|
0.00193
|
NM_000064.4(C3):c.2245+15G>A
|
rs11569434
|
0.00192
|
NM_000204.5(CFI):c.1443C>T (p.Val481=)
|
rs114091883
|
0.00190
|
NM_000064.4(C3):c.2685C>T (p.Ser895=)
|
rs138884408
|
0.00189
|
NM_000065.5(C6):c.1695C>T (p.Asp565=)
|
rs79523005
|
0.00189
|
NM_000064.4(C3):c.3216G>T (p.Arg1072=)
|
rs137880434
|
0.00183
|
NM_000587.4(C7):c.1341G>A (p.Glu447=)
|
rs150696042
|
0.00183
|
NM_001737.5(C9):c.133A>T (p.Met45Leu)
|
rs41271047
|
0.00183
|
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_172351.3(CD46):c.285T>C (p.Tyr95=)
|
rs112089594
|
0.00175
|
NM_001378373.1(MBL2):c.*1819T>C
|
rs774307463
|
0.00171
|
NM_001735.3(C5):c.2059+16T>A
|
rs199849879
|
0.00171
|
NM_000204.5(CFI):c.916A>G (p.Ile306Val)
|
rs113273712
|
0.00164
|
NM_021023.6(CFHR3):c.53G>C (p.Gly18Ala)
|
rs140313679
|
0.00156
|
NM_000063.6(C2):c.2046A>G (p.Ala682=)
|
rs45507391
|
0.00154
|
NM_000204.5(CFI):c.782G>A (p.Gly261Asp)
|
rs112534524
|
0.00153
|
NM_003665.4(FCN3):c.232+1G>A
|
rs141300199
|
0.00153
|
NM_001735.3(C5):c.921C>G (p.Val307=)
|
rs62640871
|
0.00148
|
NM_000064.4(C3):c.2901C>T (p.Leu967=)
|
rs34029609
|
0.00142
|
NM_001735.3(C5):c.3303T>C (p.Cys1101=)
|
rs145979468
|
0.00142
|
NM_001378373.1(MBL2):c.628G>T (p.Glu210Ter)
|
rs74754826
|
0.00140
|
NM_000204.5(CFI):c.1657C>T (p.Pro553Ser)
|
rs113460688
|
0.00134
|
NM_000063.6(C2):c.1778G>A (p.Arg593Gln)
|
rs150878060
|
0.00133
|
NM_172351.3(CD46):c.*1498G>T
|
rs117431447
|
0.00133
|
NM_000065.5(C6):c.821del (p.Gln274fs)
|
rs557023458
|
0.00131
|
NM_000186.4(CFH):c.2867C>T (p.Thr956Met)
|
rs145975787
|
0.00130
|
NM_006610.4(MASP2):c.1731A>C (p.Gln577His)
|
rs144471433
|
0.00130
|
NM_000186.4(CFH):c.1707C>T (p.Cys569=)
|
rs144976181
|
0.00129
|
NM_000562.3(C8A):c.606T>C (p.Asp202=)
|
rs150755683
|
0.00121
|
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_000066.4(C8B):c.1282C>T (p.Arg428Ter)
|
rs41286844
|
0.00118
|
NM_000361.3(THBD):c.*158G>A
|
rs3176121
|
0.00118
|
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val)
|
rs139520520
|
0.00112
|
NM_001737.5(C9):c.1451T>A (p.Met484Lys)
|
rs145969667
|
0.00109
|
NM_001735.3(C5):c.4762+14C>T
|
rs372929361
|
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_001735.3(C5):c.5031A>G (p.Ter1677=)
|
rs140229894
|
0.00105
|
NM_000065.5(C6):c.933T>C (p.Ser311=)
|
rs75043846
|
0.00103
|
NM_000587.4(C7):c.1258A>C (p.Lys420Gln)
|
rs3792646
|
0.00103
|
NM_006610.4(MASP2):c.464A>G (p.His155Arg)
|
rs2273343
|
0.00096
|
NM_000062.3(SERPING1):c.5C>T (p.Ala2Val)
|
rs185342631
|
0.00094
|
NM_001735.3(C5):c.1418A>G (p.His473Arg)
|
rs78640581
|
0.00093
|
NM_001737.5(C9):c.974C>T (p.Ala325Val)
|
rs147068084
|
0.00093
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile)
|
rs146803767
|
0.00093
|
NM_000587.4(C7):c.405del (p.Asn136fs)
|
rs139491301
|
0.00088
|
NM_001378373.1(MBL2):c.132C>T (p.Asn44=)
|
rs34120190
|
0.00087
|
NM_001735.3(C5):c.989T>C (p.Ile330Thr)
|
rs147430470
|
0.00087
|
NM_003665.4(FCN3):c.498G>C (p.Glu166Asp)
|
rs56405086
|
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_006610.4(MASP2):c.742-12C>T
|
rs201703577
|
0.00086
|
NM_000064.4(C3):c.4767G>A (p.Lys1589=)
|
rs144589541
|
0.00083
|
NM_001735.3(C5):c.306G>A (p.Val102=)
|
rs151322743
|
0.00082
|
NM_000063.6(C2):c.2171C>T (p.Pro724Leu)
|
rs145050210
|
0.00081
|
NM_001735.3(C5):c.450C>T (p.Asp150=)
|
rs141829974
|
0.00081
|
NM_006610.4(MASP2):c.828C>G (p.Ile276Met)
|
rs149800848
|
0.00080
|
NM_000587.4(C7):c.1852C>T (p.Arg618Trp)
|
rs202140226
|
0.00073
|
NM_001735.3(C5):c.267A>C (p.Pro89=)
|
rs758128814
|
0.00069
|
NM_000064.4(C3):c.876+19G>A
|
rs11569574
|
0.00068
|
NM_006610.4(MASP2):c.352C>T (p.Arg118Cys)
|
rs147270785
|
0.00066
|
NM_001735.3(C5):c.64A>G (p.Thr22Ala)
|
rs564964646
|
0.00063
|
NM_006610.4(MASP2):c.1142C>T (p.Thr381Ile)
|
rs143981111
|
0.00063
|
NM_001378373.1(MBL2):c.*1995del
|
rs751460283
|
0.00061
|
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=)
|
rs151251039
|
0.00061
|
NM_006610.4(MASP2):c.383C>T (p.Thr128Met)
|
rs141145402
|
0.00061
|
NM_006610.4(MASP2):c.395C>T (p.Ala132Val)
|
rs144632025
|
0.00061
|
NM_000361.3(THBD):c.683C>T (p.Pro228Leu)
|
rs375011249
|
0.00060
|
NM_001735.3(C5):c.3230+17G>C
|
rs374404058
|
0.00060
|
NM_000064.4(C3):c.1898A>G (p.Lys633Arg)
|
rs140655115
|
0.00058
|
NM_000361.3(THBD):c.*41T>C
|
rs377311614
|
0.00058
|
NM_006610.4(MASP2):c.231C>T (p.Val77=)
|
rs140239262
|
0.00058
|
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser)
|
rs1800578
|
0.00057
|
NM_000064.4(C3):c.2190C>T (p.Tyr730=)
|
rs142455019
|
0.00055
|
NM_001378373.1(MBL2):c.*2209T>C
|
rs747317698
|
0.00055
|
NM_006610.4(MASP2):c.*219C>T
|
rs775881603
|
0.00055
|
NM_001378156.1(C1QB):c.217G>A (p.Gly73Arg)
|
rs35477594
|
0.00054
|
NM_000064.4(C3):c.26T>C (p.Leu9Pro)
|
rs138214338
|
0.00053
|
NM_000361.3(THBD):c.*26C>T
|
rs13306852
|
0.00053
|
NM_000186.4(CFH):c.245-15T>C
|
rs200079172
|
0.00052
|
NM_001710.6(CFB):c.*47C>T
|
rs375895797
|
0.00052
|
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_000186.4(CFH):c.285T>C (p.Thr95=)
|
rs148182625
|
0.00049
|
NM_001710.6(CFB):c.658+7T>C
|
rs541260302
|
0.00049
|
NM_172351.3(CD46):c.*1111C>G
|
rs193023975
|
0.00049
|
NM_000065.5(C6):c.1999G>C (p.Asp667His)
|
rs184169749
|
0.00048
|
NM_000186.4(CFH):c.172T>G (p.Ser58Ala)
|
rs141336681
|
0.00047
|
NM_001735.3(C5):c.4899C>T (p.Phe1633=)
|
rs149147126
|
0.00047
|
NM_000066.4(C8B):c.967C>T (p.Arg323Trp)
|
rs141295453
|
0.00046
|
NM_000064.4(C3):c.1449C>T (p.His483=)
|
rs140133060
|
0.00044
|
NM_001734.5(C1S):c.100A>G (p.Ser34Gly)
|
rs148105120
|
0.00043
|
NM_001735.3(C5):c.55C>T (p.Gln19Ter)
|
rs121909587
|
0.00043
|
NM_000186.4(CFH):c.1825G>A (p.Val609Ile)
|
rs148165372
|
0.00042
|
NM_001735.3(C5):c.4785C>T (p.Asp1595=)
|
rs79033710
|
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_000204.5(CFI):c.355G>A (p.Gly119Arg)
|
rs141853578
|
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_000186.4(CFH):c.245-8C>T
|
rs537160602
|
0.00038
|
NM_001378373.1(MBL2):c.*675C>T
|
rs56213573
|
0.00038
|
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_000204.5(CFI):c.319A>G (p.Thr107Ala)
|
rs201419000
|
0.00036
|
NM_000361.3(THBD):c.1208G>A (p.Arg403Lys)
|
rs41400249
|
0.00036
|
NM_000064.4(C3):c.4827C>T (p.Ser1609=)
|
rs150537373
|
0.00035
|
NM_000064.4(C3):c.4824C>T (p.Ser1608=)
|
rs139457470
|
0.00034
|
NM_000204.5(CFI):c.429C>T (p.Ser143=)
|
rs112492491
|
0.00034
|
NM_172351.3(CD46):c.198A>T (p.Lys66Asn)
|
rs150429980
|
0.00033
|
NM_000186.4(CFH):c.2171C>A (p.Thr724Lys)
|
rs142902005
|
0.00032
|
NM_001734.5(C1S):c.979G>C (p.Val327Leu)
|
rs2239170
|
0.00032
|
NM_001735.3(C5):c.754G>A (p.Ala252Thr)
|
rs112959008
|
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_006610.4(MASP2):c.1314C>T (p.Ala438=)
|
rs199953319
|
0.00031
|
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_000361.3(THBD):c.1361T>C (p.Val454Ala)
|
rs147377392
|
0.00029
|
NM_001735.3(C5):c.1929C>G (p.Ala643=)
|
rs56371452
|
0.00029
|
NM_001737.5(C9):c.1585G>A (p.Ala529Thr)
|
rs137891079
|
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_000301.5(PLG):c.1735G>A (p.Gly579Arg)
|
rs138728014
|
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_000204.4(CFI):c.-171G>A
|
rs182477786
|
0.00026
|
NM_000361.3(THBD):c.-12C>T
|
rs370548660
|
0.00026
|
NM_001378373.1(MBL2):c.-9-5C>G
|
rs184683428
|
0.00026
|
NM_001378373.1(MBL2):c.483T>C (p.Ser161=)
|
rs760332285
|
0.00026
|
NM_001737.5(C9):c.346C>T (p.Arg116Ter)
|
rs121909592
|
0.00026
|
NM_172351.3(CD46):c.276C>T (p.Asp92=)
|
rs148383499
|
0.00026
|
NM_000066.4(C8B):c.212C>G (p.Ser71Cys)
|
rs148570619
|
0.00025
|
NM_000186.4(CFH):c.3133+4C>G
|
rs374729595
|
0.00025
|
NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu)
|
rs62625015
|
0.00025
|
NM_000361.3(THBD):c.302G>C (p.Arg101Pro)
|
rs546519295
|
0.00025
|
NM_006610.4(MASP2):c.1213G>A (p.Val405Met)
|
rs61735594
|
0.00025
|
NM_000204.5(CFI):c.1216C>T (p.Arg406Cys)
|
rs181729783
|
0.00024
|
NM_000204.5(CFI):c.719C>G (p.Ala240Gly)
|
rs146444258
|
0.00024
|
NM_000064.4(C3):c.1873A>T (p.Ile625Phe)
|
rs144432231
|
0.00023
|
NM_000066.4(C8B):c.271C>T (p.Gln91Ter)
|
rs146187042
|
0.00023
|
NM_000186.4(CFH):c.3291G>A (p.Thr1097=)
|
rs409953
|
0.00023
|
NM_000361.3(THBD):c.*1011C>A
|
rs534762196
|
0.00023
|
NM_001378373.1(MBL2):c.449A>C (p.Lys150Thr)
|
rs149216902
|
0.00023
|
NM_001737.5(C9):c.580C>T (p.Arg194Ter)
|
rs146217095
|
0.00023
|
NM_015991.4(C1QA):c.11C>G (p.Pro4Arg)
|
rs149230484
|
0.00023
|
NM_000063.6(C2):c.2080-8T>C
|
rs201806170
|
0.00022
|
NM_000361.3(THBD):c.282C>G (p.Pro94=)
|
rs538290084
|
0.00022
|
NM_001378373.1(MBL2):c.*1088C>T
|
rs56095345
|
0.00022
|
NM_000064.4(C3):c.4791G>A (p.Glu1597=)
|
rs149675330
|
0.00021
|
NM_000065.5(C6):c.143G>A (p.Arg48Lys)
|
rs145422926
|
0.00021
|
NM_000186.4(CFH):c.1949G>T (p.Gly650Val)
|
rs143237092
|
0.00021
|
NM_000361.3(THBD):c.*338C>T
|
rs536637715
|
0.00021
|
NM_000361.3(THBD):c.866A>T (p.Asn289Ile)
|
rs143748797
|
0.00021
|
NM_001735.3(C5):c.2059+3A>G
|
rs374867185
|
0.00021
|
NM_001735.3(C5):c.4321G>T (p.Ala1441Ser)
|
rs143886761
|
0.00021
|
NM_001735.3(C5):c.65C>T (p.Thr22Ile)
|
rs142075999
|
0.00021
|
NM_000063.6(C2):c.218C>T (p.Pro73Leu)
|
rs137902889
|
0.00020
|
NM_001734.5(C1S):c.1600C>T (p.Arg534Trp)
|
rs121909582
|
0.00020
|
NM_001735.3(C5):c.667+8C>G
|
rs375251377
|
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_000204.5(CFI):c.1430-19G>A
|
rs377117137
|
0.00019
|
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_006610.4(MASP2):c.234+6G>A
|
rs183487544
|
0.00019
|
NM_000361.3(THBD):c.-151G>T
|
rs16984852
|
0.00018
|
NM_001735.3(C5):c.4426C>T (p.Arg1476Ter)
|
rs121909588
|
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_000587.4(C7):c.659G>A (p.Arg220Gln)
|
rs369349760
|
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_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_000587.4(C7):c.605A>G (p.Asn202Ser)
|
rs199587630
|
0.00016
|
NM_001735.3(C5):c.4018-18T>A
|
rs762212329
|
0.00016
|
NM_001735.3(C5):c.4713A>G (p.Glu1571=)
|
rs141660654
|
0.00016
|
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter)
|
rs138924661
|
0.00016
|
NM_006610.4(MASP2):c.1187G>A (p.Cys396Tyr)
|
rs185903926
|
0.00016
|
NM_006610.4(MASP2):c.1727C>T (p.Thr576Ile)
|
rs202214079
|
0.00016
|
NM_000204.5(CFI):c.1581C>T (p.Gly527=)
|
rs181378677
|
0.00015
|
NM_000204.5(CFI):c.608C>T (p.Thr203Ile)
|
rs138346388
|
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_000204.5(CFI):c.772G>A (p.Ala258Thr)
|
rs199688124
|
0.00014
|
NM_000204.5(CFI):c.905-3T>C
|
rs377535161
|
0.00014
|
NM_000361.3(THBD):c.*325T>C
|
rs186669520
|
0.00014
|
NM_000361.3(THBD):c.347A>C (p.Asn116Thr)
|
rs773006742
|
0.00014
|
NM_000562.3(C8A):c.1270C>T (p.Arg424Ter)
|
rs140856114
|
0.00014
|
NM_000587.4(C7):c.1451C>T (p.Ala484Val)
|
rs369097905
|
0.00014
|
NM_001710.6(CFB):c.291G>A (p.Glu97=)
|
rs138236643
|
0.00014
|
NM_001735.3(C5):c.2715T>C (p.Ile905=)
|
rs139794186
|
0.00014
|
NM_001735.3(C5):c.4504+4A>G
|
rs137867011
|
0.00014
|
NM_006610.4(MASP2):c.*171A>C
|
rs183998926
|
0.00014
|
NM_000063.6(C2):c.1902+5G>A
|
rs201711512
|
0.00013
|
NM_000065.5(C6):c.1786C>T (p.Arg596Ter)
|
rs142881576
|
0.00013
|
NM_000066.4(C8B):c.164G>A (p.Ser55Asn)
|
rs144586148
|
0.00013
|
NM_000186.4(CFH):c.388G>A (p.Asp130Asn)
|
rs147002633
|
0.00013
|
NM_001735.3(C5):c.4016A>G (p.Glu1339Gly)
|
rs569871287
|
0.00013
|
NM_001737.5(C9):c.355T>G (p.Cys119Gly)
|
rs121909593
|
0.00013
|
NM_015991.4(C1QA):c.162G>A (p.Pro54=)
|
rs375714569
|
0.00013
|
NM_172351.3(CD46):c.*1641A>G
|
rs886045843
|
0.00013
|
NM_172351.3(CD46):c.*517T>A
|
rs539666226
|
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_000204.5(CFI):c.338G>A (p.Ser113Asn)
|
rs150610189
|
0.00012
|
NM_000361.3(THBD):c.*47C>T
|
rs551028498
|
0.00012
|
NM_001735.3(C5):c.1424C>T (p.Ala475Val)
|
rs151271738
|
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_000065.5(C6):c.1205T>C (p.Ile402Thr)
|
rs139261476
|
0.00011
|
NM_000066.4(C8B):c.407G>A (p.Arg136His)
|
rs200374059
|
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_000361.3(THBD):c.965G>T (p.Arg322Leu)
|
rs146549103
|
0.00011
|
NM_001735.3(C5):c.2420C>T (p.Thr807Ile)
|
rs372326645
|
0.00011
|
NM_001735.3(C5):c.3059A>G (p.Tyr1020Cys)
|
rs768907431
|
0.00011
|
NM_001735.3(C5):c.423A>G (p.Val141=)
|
rs545714459
|
0.00011
|
NM_153240.5(NPHP3):c.2132A>G (p.Asn711Ser)
|
rs117872197
|
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_000204.5(CFI):c.405T>C (p.Asp135=)
|
rs375792874
|
0.00010
|
NM_000204.5(CFI):c.705T>C (p.Ile235=)
|
rs373891906
|
0.00010
|
NM_000361.3(THBD):c.1700G>A (p.Arg567Gln)
|
rs368774068
|
0.00010
|
NM_001378373.1(MBL2):c.490A>C (p.Thr164Pro)
|
rs200749792
|
0.00010
|
NM_001735.3(C5):c.1541C>T (p.Thr514Met)
|
rs199664327
|
0.00010
|
NM_001735.3(C5):c.2272T>C (p.Leu758=)
|
rs143840189
|
0.00010
|
NM_001735.3(C5):c.3732G>A (p.Thr1244=)
|
rs201280694
|
0.00010
|
NM_001735.3(C5):c.5011A>G (p.Ile1671Val)
|
rs374914766
|
0.00010
|
NM_001928.4(CFD):c.463A>G (p.Ile155Val)
|
rs373019471
|
0.00010
|
NM_000062.3(SERPING1):c.997G>A (p.Ala333Thr)
|
rs202192543
|
0.00009
|
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_000204.5(CFI):c.1410T>C (p.Ser470=)
|
rs200068862
|
0.00009
|
NM_000204.5(CFI):c.454G>A (p.Val152Met)
|
rs367677199
|
0.00009
|
NM_001378373.1(MBL2):c.*99T>G
|
rs553395892
|
0.00009
|
NM_001735.3(C5):c.1711C>G (p.Leu571Val)
|
rs147226792
|
0.00009
|
NM_001735.3(C5):c.3199A>C (p.Ser1067Arg)
|
rs377417930
|
0.00009
|
NM_001735.3(C5):c.3659-6G>A
|
rs201384752
|
0.00009
|
NM_001735.3(C5):c.4924T>G (p.Leu1642Val)
|
rs762245967
|
0.00009
|
NM_006610.4(MASP2):c.100G>A (p.Gly34Ser)
|
rs373677176
|
0.00009
|
NM_030787.4(CFHR5):c.646A>T (p.Asn216Tyr)
|
rs138834145
|
0.00009
|
NM_172351.3(CD46):c.*1614G>A
|
rs533116649
|
0.00009
|
NM_000204.5(CFI):c.193T>C (p.Tyr65His)
|
rs774783110
|
0.00008
|
NM_001378373.1(MBL2):c.*3G>T
|
rs371397104
|
0.00008
|
NM_001735.3(C5):c.2653C>T (p.Arg885Cys)
|
rs373359894
|
0.00008
|
NM_001735.3(C5):c.5005G>A (p.Glu1669Lys)
|
rs758052311
|
0.00008
|
NM_172351.3(CD46):c.261A>G (p.Leu87=)
|
rs115385712
|
0.00008
|
NM_172351.3(CD46):c.887C>T (p.Ala296Val)
|
rs753859532
|
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_000204.5(CFI):c.1019T>C (p.Ile340Thr)
|
rs769419740
|
0.00007
|
NM_000204.5(CFI):c.560G>A (p.Arg187Gln)
|
rs143366614
|
0.00007
|
NM_000204.5(CFI):c.60C>T (p.Val20=)
|
rs776132010
|
0.00007
|
NM_001378373.1(MBL2):c.*2067C>T
|
rs542103508
|
0.00007
|
NM_001378373.1(MBL2):c.302C>T (p.Pro101Leu)
|
rs143562102
|
0.00007
|
NM_001378373.1(MBL2):c.303G>A (p.Pro101=)
|
rs55902142
|
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_001735.3(C5):c.3731C>T (p.Thr1244Met)
|
rs754562499
|
0.00007
|
NM_001735.3(C5):c.928C>T (p.Leu310=)
|
rs375870111
|
0.00007
|
NM_006610.4(MASP2):c.99C>T (p.Pro33=)
|
rs534852238
|
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_000066.4(C8B):c.27G>A (p.Trp9Ter)
|
rs759074976
|
0.00006
|
NM_000066.4(C8B):c.820C>T (p.Arg274Ter)
|
rs140813121
|
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_000204.5(CFI):c.129C>T (p.Cys43=)
|
rs146462954
|
0.00006
|
NM_000204.5(CFI):c.130G>A (p.Asp44Asn)
|
rs374036714
|
0.00006
|
NM_000204.5(CFI):c.148C>G (p.Pro50Ala)
|
rs144082872
|
0.00006
|
NM_000204.5(CFI):c.1533A>G (p.Ala511=)
|
rs369715801
|
0.00006
|
NM_000204.5(CFI):c.310G>A (p.Gly104Arg)
|
rs200419722
|
0.00006
|
NM_000204.5(CFI):c.325G>A (p.Glu109Lys)
|
rs748098641
|
0.00006
|
NM_000204.5(CFI):c.482+7G>A
|
rs765922749
|
0.00006
|
NM_000204.5(CFI):c.949C>T (p.Arg317Trp)
|
rs121964917
|
0.00006
|
NM_000361.3(THBD):c.*2129C>A
|
rs372816835
|
0.00006
|
NM_000587.4(C7):c.1135G>C (p.Gly379Arg)
|
rs121964921
|
0.00006
|
NM_001378373.1(MBL2):c.*1287C>T
|
rs551861672
|
0.00006
|
NM_001734.5(C1S):c.622T>C (p.Leu208=)
|
rs144205018
|
0.00006
|
NM_001735.3(C5):c.1481A>G (p.Asp494Gly)
|
rs373646644
|
0.00006
|
NM_001735.3(C5):c.2033C>T (p.Thr678Met)
|
rs138509814
|
0.00006
|
NM_001735.3(C5):c.3068A>G (p.His1023Arg)
|
rs760863207
|
0.00006
|
NM_001735.3(C5):c.4654G>A (p.Ala1552Thr)
|
rs147051026
|
0.00006
|
NM_001735.3(C5):c.600G>A (p.Thr200=)
|
rs369786622
|
0.00006
|
NM_001735.3(C5):c.95G>A (p.Arg32His)
|
rs144876205
|
0.00006
|
NM_001928.4(CFD):c.125C>A (p.Ser42Ter)
|
rs104894667
|
0.00006
|
NM_172351.3(CD46):c.*968T>A
|
rs768037862
|
0.00006
|
NM_172351.3(CD46):c.574G>C (p.Asp192His)
|
rs368371683
|
0.00006
|
NM_172369.5(C1QC):c.538G>A (p.Val180Met)
|
rs200292688
|
0.00006
|
NM_172369.5(C1QC):c.8T>C (p.Val3Ala)
|
rs367838299
|
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_000204.5(CFI):c.1044+8C>T
|
rs190420174
|
0.00005
|
NM_000204.5(CFI):c.1150G>A (p.Ala384Thr)
|
rs762315947
|
0.00005
|
NM_000204.5(CFI):c.57+4A>G
|
rs757464411
|
0.00005
|
NM_000204.5(CFI):c.729T>A (p.Gly243=)
|
rs749140698
|
0.00005
|
NM_000361.3(THBD):c.1406A>G (p.Asp469Gly)
|
rs373741115
|
0.00005
|
NM_001710.6(CFB):c.1548G>A (p.Val516=)
|
rs553118090
|
0.00005
|
NM_001710.6(CFB):c.1778+8C>T
|
rs148298609
|
0.00005
|
NM_001735.3(C5):c.2686G>T (p.Val896Leu)
|
rs370940275
|
0.00005
|
NM_001735.3(C5):c.407C>A (p.Thr136Asn)
|
rs776192715
|
0.00005
|
NM_001735.3(C5):c.4205T>C (p.Ile1402Thr)
|
rs371503868
|
0.00005
|
NM_001737.5(C9):c.460C>T (p.Arg154Ter)
|
rs144138616
|
0.00005
|
NM_006610.4(MASP2):c.741+1G>T
|
rs368040764
|
0.00005
|
NM_006610.4(MASP2):c.86G>A (p.Arg29His)
|
rs375887709
|
0.00005
|
NM_172351.3(CD46):c.*1665G>A
|
rs886045845
|
0.00005
|
NM_172369.5(C1QC):c.100G>A (p.Gly34Arg)
|
rs200206736
|
0.00005
|
NM_000063.6(C2):c.1360+1G>A
|
rs140225293
|
0.00004
|
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.3023C>T (p.Ser1008Leu)
|
rs746172422
|
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_000204.5(CFI):c.1268C>A (p.Ala423Glu)
|
rs555832641
|
0.00004
|
NM_000204.5(CFI):c.1429+1G>C
|
rs368555424
|
0.00004
|
NM_000204.5(CFI):c.1532C>T (p.Ala511Val)
|
rs760801046
|
0.00004
|
NM_000204.5(CFI):c.559C>T (p.Arg187Ter)
|
rs368615806
|
0.00004
|
NM_000204.5(CFI):c.57+9T>C
|
rs189973137
|
0.00004
|
NM_000204.5(CFI):c.603A>C (p.Arg201Ser)
|
rs145769028
|
0.00004
|
NM_000204.5(CFI):c.950G>A (p.Arg317Gln)
|
rs751111134
|
0.00004
|
NM_000361.3(THBD):c.*1271G>T
|
rs563439109
|
0.00004
|
NM_000361.3(THBD):c.277C>A (p.Pro93Thr)
|
rs754342536
|
0.00004
|
NM_000361.3(THBD):c.289G>A (p.Gly97Ser)
|
rs1239586434
|
0.00004
|
NM_000361.3(THBD):c.376G>T (p.Asp126Tyr)
|
rs768667473
|
0.00004
|
NM_000361.3(THBD):c.675C>T (p.Thr225=)
|
rs775568682
|
0.00004
|
NM_000587.4(C7):c.1244A>G (p.Gln415Arg)
|
rs370190257
|
0.00004
|
NM_000587.4(C7):c.63-1G>A
|
rs1022194067
|
0.00004
|
NM_001002029.4(C4B):c.3676+1G>A
|
rs771378213
|
0.00004
|
NM_001378373.1(MBL2):c.*1452A>T
|
rs186828712
|
0.00004
|
NM_001710.6(CFB):c.1374G>A (p.Met458Ile)
|
rs200837114
|
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_001734.5(C1S):c.991C>T (p.Arg331Cys)
|
rs140488585
|
0.00004
|
NM_001735.3(C5):c.116T>C (p.Ile39Thr)
|
rs1228951703
|
0.00004
|
NM_001735.3(C5):c.1816G>A (p.Asp606Asn)
|
rs775286780
|
0.00004
|
NM_001735.3(C5):c.3277G>A (p.Val1093Ile)
|
rs371131390
|
0.00004
|
NM_001735.3(C5):c.441G>A (p.Ser147=)
|
rs376535022
|
0.00004
|
NM_001735.3(C5):c.4679-2A>G
|
rs191466386
|
0.00004
|
NM_001737.5(C9):c.1280C>G (p.Ser427Ter)
|
rs121909594
|
0.00004
|
NM_006610.4(MASP2):c.1470T>G (p.His490Gln)
|
rs750359413
|
0.00004
|
NM_006610.4(MASP2):c.412+1G>A
|
rs781037969
|
0.00004
|
NM_015991.4(C1QA):c.622C>T (p.Gln208Ter)
|
rs121909581
|
0.00004
|
NM_172351.3(CD46):c.*52G>A
|
rs373138507
|
0.00004
|
NM_172351.3(CD46):c.-6C>T
|
rs886045836
|
0.00004
|
NM_172351.3(CD46):c.245G>A (p.Arg82Gln)
|
rs761000846
|
0.00004
|
NM_172351.3(CD46):c.286+2T>G
|
rs769742294
|
0.00004
|
NM_172351.3(CD46):c.293C>T (p.Thr98Ile)
|
rs116800126
|
0.00004
|
NM_172351.3(CD46):c.70A>G (p.Met24Val)
|
rs750342865
|
0.00004
|
NM_172369.5(C1QC):c.490G>A (p.Gly164Ser)
|
rs752596663
|
0.00004
|
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_000204.5(CFI):c.1071T>G (p.Ile357Met)
|
rs200881135
|
0.00003
|
NM_000204.5(CFI):c.1420C>T (p.Arg474Ter)
|
rs121964913
|
0.00003
|
NM_000204.5(CFI):c.1429+8T>C
|
rs184313022
|
0.00003
|
NM_000204.5(CFI):c.1709G>C (p.Ser570Thr)
|
rs200973120
|
0.00003
|
NM_000204.5(CFI):c.309C>T (p.Asn103=)
|
rs761425840
|
0.00003
|
NM_000204.5(CFI):c.80_81del (p.Asp27fs)
|
rs886043418
|
0.00003
|
NM_000361.3(THBD):c.*230T>G
|
rs985689499
|
0.00003
|
NM_000361.3(THBD):c.1083G>A (p.Glu361=)
|
rs370377519
|
0.00003
|
NM_000361.3(THBD):c.116A>T (p.Tyr39Phe)
|
rs776866172
|
0.00003
|
NM_000361.3(THBD):c.1614C>A (p.His538Gln)
|
rs1436540579
|
0.00003
|
NM_000361.3(THBD):c.331G>A (p.Val111Ile)
|
rs886056549
|
0.00003
|
NM_000361.3(THBD):c.716C>T (p.Ala239Val)
|
rs886056547
|
0.00003
|
NM_000587.4(C7):c.1411A>T (p.Thr471Ser)
|
rs371379073
|
0.00003
|
NM_001378373.1(MBL2):c.*1569A>G
|
rs754268753
|
0.00003
|
NM_001378373.1(MBL2):c.*2457G>C
|
rs1263739066
|
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_001734.5(C1S):c.733C>T (p.Arg245Trp)
|
rs147971272
|
0.00003
|
NM_001735.3(C5):c.1125T>G (p.Val375=)
|
rs778186090
|
0.00003
|
NM_001735.3(C5):c.1717-5T>C
|
rs779247145
|
0.00003
|
NM_001735.3(C5):c.1947T>C (p.Ala649=)
|
rs768999689
|
0.00003
|
NM_001735.3(C5):c.3413G>A (p.Arg1138Gln)
|
rs779879112
|
0.00003
|
NM_001735.3(C5):c.4127G>A (p.Ser1376Asn)
|
rs764508773
|
0.00003
|
NM_001735.3(C5):c.435T>A (p.Val145=)
|
rs760334587
|
0.00003
|
NM_005141.5(FGB):c.139C>T (p.Arg47Ter)
|
rs121909625
|
0.00003
|
NM_006610.4(MASP2):c.*212A>G
|
rs987591296
|
0.00003
|
NM_006610.4(MASP2):c.*311T>C
|
rs771262318
|
0.00003
|
NM_006610.4(MASP2):c.1574A>G (p.His525Arg)
|
rs745359886
|
0.00003
|
NM_006610.4(MASP2):c.159C>T (p.Pro53=)
|
rs376802078
|
0.00003
|
NM_006610.4(MASP2):c.172C>T (p.Arg58Cys)
|
rs566630945
|
0.00003
|
NM_006610.4(MASP2):c.229G>A (p.Val77Ile)
|
rs376609308
|
0.00003
|
NM_007375.4(TARDBP):c.*2123T>C
|
rs1464055996
|
0.00003
|
NM_030787.4(CFHR5):c.329T>C (p.Val110Ala)
|
rs140691305
|
0.00003
|
NM_139027.6(ADAMTS13):c.1979G>A (p.Arg660Gln)
|
rs117943654
|
0.00003
|
NM_172351.3(CD46):c.*1265T>C
|
rs753496695
|
0.00003
|
NM_172351.3(CD46):c.*180T>C
|
rs886045840
|
0.00003
|
NM_172351.3(CD46):c.*614T>C
|
rs561506830
|
0.00003
|
NM_172351.3(CD46):c.1104C>T (p.Thr368=)
|
rs764242699
|
0.00003
|
NM_172351.3(CD46):c.643G>A (p.Val215Met)
|
rs535353049
|
0.00003
|
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_000066.4(C8B):c.1606G>A (p.Val536Ile)
|
rs377623911
|
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_000204.5(CFI):c.1063G>A (p.Val355Met)
|
rs1250103299
|
0.00002
|
NM_000204.5(CFI):c.1378C>T (p.Leu460=)
|
rs1026187949
|
0.00002
|
NM_000204.5(CFI):c.1429G>C (p.Asp477His)
|
rs754972981
|
0.00002
|
NM_000204.5(CFI):c.205A>G (p.Lys69Glu)
|
rs771325547
|
0.00002
|
NM_000204.5(CFI):c.248C>G (p.Pro83Arg)
|
rs1433059338
|
0.00002
|
NM_000204.5(CFI):c.530A>T (p.Asn177Ile)
|
rs753060374
|
0.00002
|
NM_000204.5(CFI):c.546A>G (p.Leu182=)
|
rs992376160
|
0.00002
|
NM_000204.5(CFI):c.773-3C>T
|
rs375483832
|
0.00002
|
NM_000361.3(THBD):c.*1104A>C
|
rs926288174
|
0.00002
|
NM_000361.3(THBD):c.*1239G>A
|
rs549574979
|
0.00002
|
NM_000361.3(THBD):c.1029A>G (p.Thr343=)
|
rs79349426
|
0.00002
|
NM_000361.3(THBD):c.1528G>A (p.Val510Met)
|
rs555537779
|
0.00002
|
NM_000361.3(THBD):c.1678G>C (p.Glu560Gln)
|
rs201487514
|
0.00002
|
NM_000361.3(THBD):c.415G>T (p.Ala139Ser)
|
rs982068192
|
0.00002
|
NM_000361.3(THBD):c.543G>A (p.Glu181=)
|
rs542108654
|
0.00002
|
NM_000562.3(C8A):c.171+1G>T
|
rs775967055
|
0.00002
|
NM_001378373.1(MBL2):c.*1144A>G
|
rs886047046
|
0.00002
|
NM_001378373.1(MBL2):c.*7A>G
|
rs777309633
|
0.00002
|
NM_001378373.1(MBL2):c.527A>G (p.Asn176Ser)
|
rs8191996
|
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_001735.3(C5):c.1716+7C>G
|
rs764673418
|
0.00002
|
NM_001735.3(C5):c.2177A>G (p.Lys726Arg)
|
rs369235335
|
0.00002
|
NM_001735.3(C5):c.2206A>G (p.Ser736Gly)
|
rs778780304
|
0.00002
|
NM_001735.3(C5):c.2491T>C (p.Tyr831His)
|
rs1352441352
|
0.00002
|
NM_001735.3(C5):c.314A>C (p.Glu105Ala)
|
rs754822238
|
0.00002
|
NM_001735.3(C5):c.4162+20C>T
|
rs56094365
|
0.00002
|
NM_001735.3(C5):c.4693A>G (p.Ile1565Val)
|
rs375352964
|
0.00002
|
NM_001737.5(C9):c.409G>A (p.Glu137Lys)
|
rs753246845
|
0.00002
|
NM_002113.3(CFHR1):c.643G>A (p.Asp215Asn)
|
rs781409951
|
0.00002
|
NM_003665.4(FCN3):c.620A>G (p.Tyr207Cys)
|
rs781053078
|
0.00002
|
NM_006610.4(MASP2):c.446C>T (p.Ala149Val)
|
rs761179644
|
0.00002
|
NM_006610.4(MASP2):c.661T>C (p.Phe221Leu)
|
rs756947952
|
0.00002
|
NM_006610.4(MASP2):c.81C>T (p.Phe27=)
|
rs886045056
|
0.00002
|
NM_006610.4(MASP2):c.890-1G>A
|
rs370918294
|
0.00002
|
NM_172351.3(CD46):c.*1211C>T
|
rs1248620643
|
0.00002
|
NM_172351.3(CD46):c.*672A>T
|
rs1430844015
|
0.00002
|
NM_172351.3(CD46):c.-127A>G
|
rs1023894625
|
0.00002
|
NM_172351.3(CD46):c.535G>C (p.Glu179Gln)
|
rs779174212
|
0.00002
|
NM_172351.3(CD46):c.565T>G (p.Tyr189Asp)
|
rs202071781
|
0.00002
|
NM_172351.3(CD46):c.72G>A (p.Met24Ile)
|
rs765047596
|
0.00002
|
NM_172369.5(C1QC):c.706G>A (p.Val236Ile)
|
rs774542072
|
0.00002
|
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.1678G>A (p.Val560Met)
|
rs1015875450
|
0.00001
|
NM_000064.4(C3):c.1767C>T (p.His589=)
|
rs775843240
|
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.2403G>A (p.Thr801=)
|
rs886054654
|
0.00001
|
NM_000064.4(C3):c.2441-6G>A
|
rs752216964
|
0.00001
|
NM_000064.4(C3):c.2450T>A (p.Val817Glu)
|
rs886054653
|
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.2642G>A (p.Arg881His)
|
rs1443451793
|
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.28C>A (p.Leu10Met)
|
rs756577495
|
0.00001
|
NM_000064.4(C3):c.322G>A (p.Val108Met)
|
rs747923416
|
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.4534C>T (p.Arg1512Cys)
|
rs1408701335
|
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_000065.5(C6):c.928-1G>C
|
rs1432520854
|
0.00001
|
NM_000066.4(C8B):c.1438G>A (p.Ala480Thr)
|
rs924523629
|
0.00001
|
NM_000066.4(C8B):c.1653G>A (p.Trp551Ter)
|
rs752357132
|
0.00001
|
NM_000066.4(C8B):c.725G>A (p.Arg242His)
|
rs369993264
|
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.1114A>G (p.Ile372Val)
|
rs1370184894
|
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.3514G>T (p.Glu1172Ter)
|
rs121913060
|
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.3616C>T (p.Arg1206Cys)
|
rs1573087364
|
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_000204.5(CFI):c.1016G>A (p.Arg339Gln)
|
rs773085612
|
0.00001
|
NM_000204.5(CFI):c.1112G>T (p.Gly371Val)
|
rs763931500
|
0.00001
|
NM_000204.5(CFI):c.1165C>T (p.Arg389Cys)
|
rs1292929833
|
0.00001
|
NM_000204.5(CFI):c.12T>A (p.Leu4=)
|
rs777304665
|
0.00001
|
NM_000204.5(CFI):c.1399T>C (p.Cys467Arg)
|
rs1724402529
|
0.00001
|
NM_000204.5(CFI):c.1429+5A>G
|
rs771786368
|
0.00001
|
NM_000204.5(CFI):c.1479C>A (p.Ser493Arg)
|
rs780759494
|
0.00001
|
NM_000204.5(CFI):c.1555G>A (p.Asp519Asn)
|
rs121964918
|
0.00001
|
NM_000204.5(CFI):c.1656A>G (p.Lys552=)
|
rs1308386684
|
0.00001
|
NM_000204.5(CFI):c.1661A>T (p.Glu554Val)
|
rs754572081
|
0.00001
|
NM_000204.5(CFI):c.1A>G (p.Met1Val)
|
rs770655669
|
0.00001
|
NM_000204.5(CFI):c.209A>C (p.Asn70Thr)
|
rs749553820
|
0.00001
|
NM_000204.5(CFI):c.377T>C (p.Ile126Thr)
|
rs778891732
|
0.00001
|
NM_000204.5(CFI):c.424A>C (p.Lys142Gln)
|
rs762431670
|
0.00001
|
NM_000204.5(CFI):c.439A>G (p.Met147Val)
|
rs760787282
|
0.00001
|
NM_000204.5(CFI):c.452A>G (p.Asn151Ser)
|
rs772044176
|
0.00001
|
NM_000204.5(CFI):c.540A>G (p.Glu180=)
|
rs759777516
|
0.00001
|
NM_000204.5(CFI):c.662C>A (p.Ser221Tyr)
|
rs377528991
|
0.00001
|
NM_000204.5(CFI):c.728G>A (p.Gly243Asp)
|
rs121964916
|
0.00001
|
NM_000204.5(CFI):c.781G>A (p.Gly261Ser)
|
rs547901965
|
0.00001
|
NM_000204.5(CFI):c.848A>G (p.Asp283Gly)
|
rs756201106
|
0.00001
|
NM_000361.3(THBD):c.*1315C>T
|
rs886056541
|
0.00001
|
NM_000361.3(THBD):c.*1505C>G
|
rs1439185320
|
0.00001
|
NM_000361.3(THBD):c.*1689C>T
|
rs886056540
|
0.00001
|
NM_000361.3(THBD):c.*169G>A
|
rs543317002
|
0.00001
|
NM_000361.3(THBD):c.*509C>T
|
rs1189083158
|
0.00001
|
NM_000361.3(THBD):c.-38G>A
|
rs750724405
|
0.00001
|
NM_000361.3(THBD):c.119C>T (p.Pro40Leu)
|
rs766710327
|
0.00001
|
NM_000361.3(THBD):c.1319C>T (p.Thr440Met)
|
rs1438620913
|
0.00001
|
NM_000361.3(THBD):c.1499C>T (p.Thr500Met)
|
rs753344243
|
0.00001
|
NM_000361.3(THBD):c.1517C>A (p.Thr506Asn)
|
rs572623850
|
0.00001
|
NM_000361.3(THBD):c.1519C>T (p.Pro507Ser)
|
rs775671453
|
0.00001
|
NM_000361.3(THBD):c.1546G>C (p.Gly516Arg)
|
rs138861385
|
0.00001
|
NM_000361.3(THBD):c.158A>G (p.Asp53Gly)
|
rs121918667
|
0.00001
|
NM_000361.3(THBD):c.236G>C (p.Gly79Ala)
|
rs1800577
|
0.00001
|
NM_000361.3(THBD):c.247C>G (p.Arg83Gly)
|
rs748313651
|
0.00001
|
NM_000361.3(THBD):c.72G>A (p.Gln24=)
|
rs1185401752
|
0.00001
|
NM_000361.3(THBD):c.763G>C (p.Ala255Pro)
|
rs1276712753
|
0.00001
|
NM_000361.3(THBD):c.77G>C (p.Gly26Ala)
|
rs757422951
|
0.00001
|
NM_000361.3(THBD):c.920C>T (p.Ser307Leu)
|
rs372556297
|
0.00001
|
NM_000562.3(C8A):c.1589A>T (p.Gln530Leu)
|
rs182161894
|
0.00001
|
NM_000587.4(C7):c.281-1G>T
|
rs531103546
|
0.00001
|
NM_001352000.1(LOC110384692):c.3442G>A (p.Ala1148Thr)
|
rs756439916
|
0.00001
|
NM_001378156.1(C1QB):c.523C>T (p.Arg175Ter)
|
rs751172449
|
0.00001
|
NM_001378156.1(C1QB):c.724G>A (p.Gly242Arg)
|
rs34813378
|
0.00001
|
NM_001378373.1(MBL2):c.*1213C>T
|
rs1840313554
|
0.00001
|
NM_001378373.1(MBL2):c.*1448C>T
|
rs1403377181
|
0.00001
|
NM_001378373.1(MBL2):c.*1839A>G
|
rs1203114895
|
0.00001
|
NM_001378373.1(MBL2):c.*289C>T
|
rs886047050
|
0.00001
|
NM_001378373.1(MBL2):c.*674A>G
|
rs886047049
|
0.00001
|
NM_001378373.1(MBL2):c.*708G>A
|
rs558872633
|
0.00001
|
NM_001378373.1(MBL2):c.109G>T (p.Ala37Ser)
|
rs201511397
|
0.00001
|
NM_001378373.1(MBL2):c.133G>A (p.Gly45Ser)
|
rs1342494768
|
0.00001
|
NM_001378373.1(MBL2):c.166A>G (p.Lys56Glu)
|
rs886047052
|
0.00001
|
NM_001378373.1(MBL2):c.249G>T (p.Gly83=)
|
rs757152192
|
0.00001
|
NM_001378373.1(MBL2):c.26T>C (p.Leu9Pro)
|
rs1049360705
|
0.00001
|
NM_001378373.1(MBL2):c.656A>T (p.Asp219Val)
|
rs780449116
|
0.00001
|
NM_001378373.1(MBL2):c.733G>A (p.Glu245Lys)
|
rs776003487
|
0.00001
|
NM_001710.6(CFB):c.118G>A (p.Glu40Lys)
|
rs1271096223
|
0.00001
|
NM_001710.6(CFB):c.1217G>A (p.Arg406Gln)
|
rs1057516209
|
0.00001
|
NM_001710.6(CFB):c.1762T>C (p.Tyr588His)
|
rs1364257553
|
0.00001
|
NM_001710.6(CFB):c.1861G>A (p.Glu621Lys)
|
rs573842877
|
0.00001
|
NM_001710.6(CFB):c.1956+10G>A
|
rs545348156
|
0.00001
|
NM_001710.6(CFB):c.427C>T (p.Arg143Cys)
|
rs1242945827
|
0.00001
|
NM_001710.6(CFB):c.503C>T (p.Pro168Leu)
|
rs779024832
|
0.00001
|
NM_001710.6(CFB):c.507C>T (p.Gly169=)
|
rs990116233
|
0.00001
|
NM_001710.6(CFB):c.917A>G (p.Lys306Arg)
|
rs374738591
|
0.00001
|
NM_001734.5(C1S):c.1139C>T (p.Ser380Phe)
|
rs782329906
|
0.00001
|
NM_001734.5(C1S):c.514G>A (p.Gly172Arg)
|
rs375308014
|
0.00001
|
NM_001735.3(C5):c.1001-6C>T
|
rs577620735
|
0.00001
|
NM_001735.3(C5):c.1358G>A (p.Arg453Gln)
|
rs768081493
|
0.00001
|
NM_001735.3(C5):c.1407G>A (p.Trp469Ter)
|
rs1408798589
|
0.00001
|
NM_001735.3(C5):c.1704C>T (p.Gly568=)
|
rs758651657
|
0.00001
|
NM_001735.3(C5):c.1866+12C>A
|
rs113503759
|
0.00001
|
NM_001735.3(C5):c.2037G>A (p.Leu679=)
|
rs2047296479
|
0.00001
|
NM_001735.3(C5):c.2059+10G>A
|
rs371850097
|
0.00001
|
NM_001735.3(C5):c.2257+1G>A
|
rs750416999
|
0.00001
|
NM_001735.3(C5):c.2543A>G (p.Tyr848Cys)
|
rs1288535384
|
0.00001
|
NM_001735.3(C5):c.2942-16A>T
|
rs1026823552
|
0.00001
|
NM_001735.3(C5):c.4081-6A>G
|
rs563554052
|
0.00001
|
NM_001735.3(C5):c.4247C>T (p.Ser1416Leu)
|
rs148636828
|
0.00001
|
NM_001735.3(C5):c.4489G>A (p.Glu1497Lys)
|
rs376245744
|
0.00001
|
NM_001735.3(C5):c.572C>T (p.Pro191Leu)
|
rs200524363
|
0.00001
|
NM_001735.3(C5):c.691A>G (p.Ile231Val)
|
rs753870842
|
0.00001
|
NM_001735.3(C5):c.698C>T (p.Pro233Leu)
|
rs531284110
|
0.00001
|
NM_001735.3(C5):c.792C>T (p.Asp264=)
|
rs751759129
|
0.00001
|
NM_001735.3(C5):c.975T>A (p.Ile325=)
|
rs370834994
|
0.00001
|
NM_001737.5(C9):c.577del (p.Tyr193fs)
|
rs778518669
|
0.00001
|
NM_006610.4(MASP2):c.1080G>A (p.Ala360=)
|
rs774776055
|
0.00001
|
NM_006610.4(MASP2):c.154C>T (p.Pro52Ser)
|
rs570974459
|
0.00001
|
NM_006610.4(MASP2):c.1972A>G (p.Met658Val)
|
rs1643743988
|
0.00001
|
NM_006610.4(MASP2):c.384G>A (p.Thr128=)
|
rs187107024
|
0.00001
|
NM_006610.4(MASP2):c.420C>T (p.Asp140=)
|
rs760062530
|
0.00001
|
NM_006610.4(MASP2):c.503G>A (p.Arg168His)
|
rs778384259
|
0.00001
|
NM_006610.4(MASP2):c.507A>G (p.Ala169=)
|
rs201972294
|
0.00001
|
NM_006610.4(MASP2):c.626C>T (p.Ser209Phe)
|
rs748760302
|
0.00001
|
NM_006610.4(MASP2):c.967A>C (p.Ser323Arg)
|
rs771074354
|
0.00001
|
NM_014140.4(SMARCAL1):c.1975C>T (p.Arg659Cys)
|
rs148893764
|
0.00001
|
NM_030787.4(CFHR5):c.707A>G (p.Asp236Gly)
|
rs1283689984
|
0.00001
|
NM_172351.3(CD46):c.*1146G>C
|
rs914566029
|
0.00001
|
NM_172351.3(CD46):c.*1613C>T
|
rs908893859
|
0.00001
|
NM_172351.3(CD46):c.*1888C>T
|
rs886045846
|
0.00001
|
NM_172351.3(CD46):c.*1963C>T
|
rs886045847
|
0.00001
|
NM_172351.3(CD46):c.*920A>G
|
rs886045841
|
0.00001
|
NM_172351.3(CD46):c.-10C>T
|
rs931567100
|
0.00001
|
NM_172351.3(CD46):c.1018+7A>G
|
rs771467005
|
0.00001
|
NM_172351.3(CD46):c.104G>A (p.Cys35Tyr)
|
rs121909591
|
0.00001
|
NM_172351.3(CD46):c.118A>G (p.Thr40Ala)
|
rs753924720
|
0.00001
|
NM_172351.3(CD46):c.175C>T (p.Arg59Ter)
|
rs121909590
|
0.00001
|
NM_172351.3(CD46):c.586G>C (p.Gly196Arg)
|
rs1656188708
|
0.00001
|
NM_172351.3(CD46):c.718T>C (p.Ser240Pro)
|
rs121909589
|
0.00001
|
NM_172351.3(CD46):c.857-185T>C
|
rs376519984
|
0.00001
|
NM_172351.3(CD46):c.860C>T (p.Ser287Leu)
|
rs751860518
|
0.00001
|
NM_172351.3(CD46):c.901+9A>G
|
rs370112627
|
0.00001
|
NM_172351.3(CD46):c.98-1G>C
|
rs1441937053
|
0.00001
|
NM_172369.5(C1QC):c.205C>T (p.Arg69Ter)
|
rs377549148
|
0.00001
|
C7, 11-BP DEL, NT631
|
|
|
C7, EX7-8DEL
|
|
|
NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del
|
|
|
NC_000001.11:g.196706898_196873196del
|
|
|
NC_000019.10:g.(6695981_6695999)_(6696810_6696831)del
|
|
|
NM_000062.3(SERPING1):c.1147A>G (p.Met383Val)
|
rs746382640
|
|
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His)
|
rs121907948
|
|
NM_000062.3(SERPING1):c.1450C>T (p.Gln484Ter)
|
rs2135328243
|
|
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.1399A>C (p.Asn467His)
|
rs1771039921
|
|
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.81C>T (p.Asn27=)
|
rs201336507
|
|
NM_000063.6(C2):c.839_849del (p.Met280fs)
|
rs1770220135
|
|
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.-3_-2dup
|
rs528697923
|
|
NM_000064.4(C3):c.1125C>A (p.Phe375Leu)
|
|
|
NM_000064.4(C3):c.1269+14C>A
|
rs886054655
|
|
NM_000064.4(C3):c.1269+4C>A
|
|
|
NM_000064.4(C3):c.1402G>A (p.Gly468Arg)
|
rs148820222
|
|
NM_000064.4(C3):c.145G>T (p.Ala49Ser)
|
|
|
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.169_170del (p.Val57fs)
|
rs1568229677
|
|
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.1962C>T (p.Thr654=)
|
|
|
NM_000064.4(C3):c.2048-14_2048-13del
|
rs140718871
|
|
NM_000064.4(C3):c.2061dup (p.Lys688fs)
|
rs1599518940
|
|
NM_000064.4(C3):c.2326G>C (p.Glu776Gln)
|
rs2145417819
|
|
NM_000064.4(C3):c.2354+1G>A
|
rs112996548
|
|
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.2485TTC[1] (p.Phe830del)
|
|
|
NM_000064.4(C3):c.2531A>G (p.Gln844Arg)
|
rs1599510478
|
|
NM_000064.4(C3):c.2562C>G (p.Tyr854Ter)
|
rs121909586
|
|
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.268-4C>T
|
|
|
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.3281C>T (p.Ala1094Val)
|
rs121909584
|
|
NM_000064.4(C3):c.3326T>G (p.Leu1109Arg)
|
|
|
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn)
|
rs121909585
|
|
NM_000064.4(C3):c.3407A>G (p.Asn1136Ser)
|
rs1918144043
|
|
NM_000064.4(C3):c.3470T>C (p.Ile1157Thr)
|
rs1918142335
|
|
NM_000064.4(C3):c.3489+2T>C
|
|
|
NM_000064.4(C3):c.3537C>A (p.Asn1179Lys)
|
rs1918021723
|
|
NM_000064.4(C3):c.3586C>T (p.Leu1196=)
|
rs1918019867
|
|
NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer)
|
rs1568212112
|
|
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.3813dup (p.Thr1272fs)
|
|
|
NM_000064.4(C3):c.3908G>A (p.Arg1303His)
|
rs775015499
|
|
NM_000064.4(C3):c.4030-2A>G
|
|
|
NM_000064.4(C3):c.4120+8G>T
|
rs886054652
|
|
NM_000064.4(C3):c.453C>T (p.Thr151=)
|
rs148870667
|
|
NM_000064.4(C3):c.4547-16C>G
|
rs1414347444
|
|
NM_000064.4(C3):c.4631-2A>G
|
rs111595742
|
|
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.481C>T (p.Arg161Trp)
|
rs776423109
|
|
NM_000064.4(C3):c.4867G>T (p.Gly1623Trp)
|
|
|
NM_000064.4(C3):c.4947C>T (p.Leu1649=)
|
|
|
NM_000064.4(C3):c.522G>A (p.Pro174=)
|
|
|
NM_000064.4(C3):c.640C>T (p.Pro214Ser)
|
rs794729228
|
|
NM_000064.4(C3):c.683-4C>G
|
rs377240996
|
|
NM_000064.4(C3):c.75-1G>A
|
|
|
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_000065.5(C6):c.107C>A (p.Ser36Ter)
|
rs1329836511
|
|
NM_000065.5(C6):c.1219C>T (p.Arg407Cys)
|
rs147449601
|
|
NM_000065.5(C6):c.1628_1629dup (p.Gln544fs)
|
|
|
NM_000065.5(C6):c.2049C>G (p.Tyr683Ter)
|
rs867425110
|
|
NM_000065.5(C6):c.2101C>A (p.Arg701=)
|
|
|
NM_000065.5(C6):c.2101C>T (p.Arg701Trp)
|
rs199930769
|
|
NM_000065.5(C6):c.2335_2336del (p.Gln779fs)
|
rs771792933
|
|
NM_000065.5(C6):c.237del (p.Ile80fs)
|
rs398122811
|
|
NM_000065.5(C6):c.2406_2407del (p.Val802_Phe803insTer)
|
rs749432203
|
|
NM_000065.5(C6):c.828del (p.Ser277fs)
|
rs372345940
|
|
NM_000066.4(C8B):c.1041_1047dup (p.Leu350fs)
|
rs398122868
|
|
NM_000066.4(C8B):c.1355G>C (p.Trp452Ser)
|
rs200077558
|
|
NM_000066.4(C8B):c.1398+9C>T
|
rs116348786
|
|
NM_000066.4(C8B):c.336del (p.Asn113fs)
|
rs372968576
|
|
NM_000066.4(C8B):c.348C>A (p.Cys116Ter)
|
rs753002884
|
|
NM_000066.4(C8B):c.361C>T (p.Arg121Ter)
|
rs150022116
|
|
NM_000066.4(C8B):c.605del (p.Pro202fs)
|
rs398122867
|
|
NM_000066.4(C8B):c.659C>A (p.Thr220Lys)
|
rs374321085
|
|
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.1126C>T (p.Gln376Ter)
|
rs1573026975
|
|
NM_000186.4(CFH):c.1318_1327del (p.Pro440fs)
|
rs1558162157
|
|
NM_000186.4(CFH):c.1336+4A>G
|
rs1573028051
|
|
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.1574G>A (p.Trp525Ter)
|
rs1328357943
|
|
NM_000186.4(CFH):c.1616G>T (p.Gly539Val)
|
rs1027258331
|
|
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.2071T>C (p.Cys691Arg)
|
rs1669151290
|
|
NM_000186.4(CFH):c.2072G>C (p.Cys691Ser)
|
rs2149108610
|
|
NM_000186.4(CFH):c.2089C>T (p.Leu697Phe)
|
|
|
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.2397del (p.Glu800fs)
|
rs1131690796
|
|
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.2535dup (p.Gln846fs)
|
rs1573076111
|
|
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter)
|
rs121913057
|
|
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.2794A>C (p.Lys932Gln)
|
rs1573079762
|
|
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg)
|
rs886039869
|
|
NM_000186.4(CFH):c.2956+13G>A
|
rs572034879
|
|
NM_000186.4(CFH):c.2975T>G (p.Leu992Ter)
|
|
|
NM_000186.4(CFH):c.3118A>G (p.Arg1040Gly)
|
|
|
NM_000186.4(CFH):c.3134-2A>G
|
rs1300996807
|
|
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.3173_3182del (p.Ala1057_Tyr1058insTer)
|
|
|
NM_000186.4(CFH):c.318T>C (p.Tyr106=)
|
rs1448752091
|
|
NM_000186.4(CFH):c.3306C>G (p.Cys1102Trp)
|
|
|
NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter)
|
rs1652987369
|
|
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.3449T>G (p.Ile1150Arg)
|
rs2149118066
|
|
NM_000186.4(CFH):c.3493+2T>C
|
rs1652989506
|
|
NM_000186.4(CFH):c.3493C>T (p.His1165Tyr)
|
|
|
NM_000186.4(CFH):c.350+15C>T
|
rs190197472
|
|
NM_000186.4(CFH):c.3530A>T (p.Tyr1177Phe)
|
rs1653040477
|
|
NM_000186.4(CFH):c.3532A>T (p.Asn1178Tyr)
|
rs1653040605
|
|
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser)
|
rs1573087200
|
|
NM_000186.4(CFH):c.3545G>A (p.Arg1182Lys)
|
rs749403509
|
|
NM_000186.4(CFH):c.3546G>C (p.Arg1182Ser)
|
rs1653042358
|
|
NM_000186.4(CFH):c.3566T>G (p.Leu1189Arg)
|
rs121913055
|
|
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)
|
rs460897
|
|
NM_000186.4(CFH):c.3592G>T (p.Glu1198Ter)
|
rs121913063
|
|
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly)
|
rs121913051
|
|
NM_000186.4(CFH):c.3644G>T (p.Arg1215Leu)
|
|
|
NM_000186.4(CFH):c.3647C>A (p.Thr1216Lys)
|
rs1653050051
|
|
NM_000186.4(CFH):c.3677_*4del (p.Pro1226_Ter1232delinsXaa)
|
rs796052136
|
|
NM_000186.4(CFH):c.428-3C>T
|
rs886045744
|
|
NM_000186.4(CFH):c.47del (p.Cys16fs)
|
|
|
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.58G>A (p.Asp20Asn)
|
rs1553270437
|
|
NM_000186.4(CFH):c.59-10T>G
|
rs1573008794
|
|
NM_000186.4(CFH):c.672G>T (p.Lys224Asn)
|
rs1408473510
|
|
NM_000186.4(CFH):c.710_711del (p.Lys236_Cys237insTer)
|
rs1553273733
|
|
NM_000186.4(CFH):c.773C>T (p.Pro258Leu)
|
|
|
NM_000186.4(CFH):c.7C>G (p.Leu3Val)
|
rs139254423
|
|
NM_000186.4(CFH):c.83_86del (p.Arg28fs)
|
rs796052137
|
|
NM_000204.4(CFI):c.-98T>C
|
rs886058984
|
|
NM_000204.5(CFI):c.-13G>A
|
rs113612355
|
|
NM_000204.5(CFI):c.1006C>T (p.Arg336Ter)
|
rs759676430
|
|
NM_000204.5(CFI):c.1044+9G>A
|
rs568070697
|
|
NM_000204.5(CFI):c.1118G>C (p.Cys373Ser)
|
rs1579173999
|
|
NM_000204.5(CFI):c.1149-1G>A
|
|
|
NM_000204.5(CFI):c.1160C>T (p.Thr387Ile)
|
rs1373768125
|
|
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs)
|
rs758049059
|
|
NM_000204.5(CFI):c.11T>A (p.Leu4His)
|
|
|
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter)
|
rs752671716
|
|
NM_000204.5(CFI):c.1253A>T (p.His418Leu)
|
rs121964912
|
|
NM_000204.5(CFI):c.1289T>C (p.Ile430Thr)
|
|
|
NM_000204.5(CFI):c.1291G>T (p.Ala431Ser)
|
rs758017357
|
|
NM_000204.5(CFI):c.1355C>A (p.Ala452Asp)
|
rs1579164519
|
|
NM_000204.5(CFI):c.1381T>C (p.Phe461Leu)
|
rs886058983
|
|
NM_000204.5(CFI):c.1450_1454del (p.Leu484fs)
|
rs752767269
|
|
NM_000204.5(CFI):c.1516A>C (p.Lys506Gln)
|
rs886058982
|
|
NM_000204.5(CFI):c.1571A>T (p.Asp524Val)
|
rs121964914
|
|
NM_000204.5(CFI):c.162C>G (p.Cys54Trp)
|
rs1553915717
|
|
NM_000204.5(CFI):c.1637G>A (p.Trp546Ter)
|
rs121964915
|
|
NM_000204.5(CFI):c.1638G>A (p.Trp546Ter)
|
rs2126178088
|
|
NM_000204.5(CFI):c.1683A>C (p.Lys561Asn)
|
|
|
NM_000204.5(CFI):c.184A>G (p.Lys62Glu)
|
rs1393611407
|
|
NM_000204.5(CFI):c.191C>T (p.Pro64Leu)
|
|
|
NM_000204.5(CFI):c.192G>C (p.Pro64=)
|
rs571265769
|
|
NM_000204.5(CFI):c.227C>G (p.Ala76Gly)
|
rs1010351654
|
|
NM_000204.5(CFI):c.262C>A (p.Gln88Lys)
|
|
|
NM_000204.5(CFI):c.280C>T (p.Leu94Phe)
|
rs1027910523
|
|
NM_000204.5(CFI):c.292A>G (p.Thr98Ala)
|
rs1478686846
|
|
NM_000204.5(CFI):c.329-14dup
|
rs754551276
|
|
NM_000204.5(CFI):c.329-8del
|
|
|
NM_000204.5(CFI):c.373G>C (p.Gly125Arg)
|
rs910978973
|
|
NM_000204.5(CFI):c.482+6C>A
|
rs79375065
|
|
NM_000204.5(CFI):c.482+6C>T
|
rs79375065
|
|
NM_000204.5(CFI):c.601A>G (p.Arg201Gly)
|
rs887070139
|
|
NM_000204.5(CFI):c.658+1G>A
|
|
|
NM_000204.5(CFI):c.763_772+9delinsGTATCCAC
|
rs2126214430
|
|
NM_000204.5(CFI):c.79del (p.Asp27fs)
|
|
|
NM_000204.5(CFI):c.803C>T (p.Ser268Leu)
|
rs2126213962
|
|
NM_000204.5(CFI):c.850T>G (p.Cys284Gly)
|
rs1483694585
|
|
NM_000204.5(CFI):c.91A>C (p.Lys31Gln)
|
rs140888912
|
|
NM_000204.5(CFI):c.941-10T>C
|
rs2126191742
|
|
NM_000361.3(THBD):c.*1153A>G
|
rs886056542
|
|
NM_000361.3(THBD):c.*1519G>C
|
rs1984567640
|
|
NM_000361.3(THBD):c.*1845G>T
|
rs867940213
|
|
NM_000361.3(THBD):c.*1869G>A
|
rs886056539
|
|
NM_000361.3(THBD):c.*1G>T
|
rs1984610334
|
|
NM_000361.3(THBD):c.*27C>T
|
rs530087674
|
|
NM_000361.3(THBD):c.*508dup
|
rs373979588
|
|
NM_000361.3(THBD):c.*511T>G
|
rs182592762
|
|
NM_000361.3(THBD):c.*562G>C
|
rs886056544
|
|
NM_000361.3(THBD):c.*663C>T
|
rs886056543
|
|
NM_000361.3(THBD):c.*775G>C
|
rs539785413
|
|
NM_000361.3(THBD):c.*943dup
|
rs759004623
|
|
NM_000361.3(THBD):c.1030C>G (p.Gln344Glu)
|
rs376845574
|
|
NM_000361.3(THBD):c.1057C>A (p.Pro353Thr)
|
|
|
NM_000361.3(THBD):c.1205A>G (p.His402Arg)
|
rs1984634547
|
|
NM_000361.3(THBD):c.1577T>C (p.Leu526Pro)
|
rs1984617316
|
|
NM_000361.3(THBD):c.15G>T (p.Leu5=)
|
rs376209282
|
|
NM_000361.3(THBD):c.1674C>G (p.Ser558=)
|
rs1984613257
|
|
NM_000361.3(THBD):c.1712C>T (p.Thr571Met)
|
rs1166732867
|
|
NM_000361.3(THBD):c.180G>A (p.Met60Ile)
|
rs2122673111
|
|
NM_000361.3(THBD):c.241G>A (p.Val81Ile)
|
rs772288987
|
|
NM_000361.3(THBD):c.245del (p.Gly82fs)
|
rs1600410451
|
|
NM_000361.3(THBD):c.563C>G (p.Ala188Gly)
|
|
|
NM_000361.3(THBD):c.656G>T (p.Gly219Val)
|
rs886056548
|
|
NM_000361.3(THBD):c.667A>C (p.Met223Leu)
|
|
|
NM_000361.3(THBD):c.747C>G (p.Asn249Lys)
|
rs886056546
|
|
NM_000361.3(THBD):c.885C>T (p.Phe295=)
|
rs1568666169
|
|
NM_000361.3(THBD):c.897C>T (p.Asn299=)
|
rs1008621697
|
|
NM_000361.3(THBD):c.898C>A (p.Pro300Thr)
|
rs199987510
|
|
NM_000361.3(THBD):c.898C>T (p.Pro300Ser)
|
rs199987510
|
|
NM_000518.4(HBB):c.206T>C (p.Leu69Pro)
|
rs33972593
|
|
NM_000562.3(C8A):c.107C>A (p.Ala36Glu)
|
rs116201358
|
|
NM_000587.4(C7):c.*96TCT[1]
|
|
|
NM_000587.4(C7):c.1314del (p.Lys438fs)
|
rs774370086
|
|
NM_000587.4(C7):c.1458T>A (p.Cys486Ter)
|
rs121964922
|
|
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)
|
rs121964920
|
|
NM_000587.4(C7):c.1924_1925del (p.His643fs)
|
rs764871530
|
|
NM_000587.4(C7):c.2125C>A (p.Gln709Lys)
|
|
|
NM_000587.4(C7):c.2140_2141del (p.Val714fs)
|
rs1467298230
|
|
NM_000587.4(C7):c.2184T>A (p.Cys728Ter)
|
rs387906509
|
|
NM_000587.4(C7):c.2350+1del
|
rs779723422
|
|
NM_000587.4(C7):c.317del (p.Asp106fs)
|
rs1579848888
|
|
NM_000587.4(C7):c.614G>A (p.Trp205Ter)
|
|
|
NM_000587.4(C7):c.633_643del (p.Ser212fs)
|
rs770367814
|
|
NM_001002029.3:c.(?_3231)_(3387_?)del
|
|
|
NM_001011551.3(C1GALT1C1):c.266C>T (p.Thr89Ile)
|
|
|
NM_001201550.3(CFHR4):c.128A>T (p.Tyr43Phe)
|
|
|
NM_001242823.2(C4B_2):c.3059C>T (p.Pro1020Leu)
|
rs1196274661
|
|
NM_001242823.2(C4B_2):c.3453T>G (p.His1151Gln)
|
rs1348499408
|
|
NM_001242823.2(C4B_2):c.3694_3695dup (p.Val1233fs)
|
rs760602547
|
|
NM_001378156.1(C1QB):c.181+1G>T
|
rs1361922961
|
|
NM_001378156.1(C1QB):c.371C>A (p.Ala124Asp)
|
|
|
NM_001378156.1(C1QB):c.623G>A (p.Gly208Asp)
|
|
|
NM_001378373.1(MBL2):c.*1252A>C
|
rs1840312785
|
|
NM_001378373.1(MBL2):c.*1429A>C
|
rs577771508
|
|
NM_001378373.1(MBL2):c.*1568C>T
|
rs886047045
|
|
NM_001378373.1(MBL2):c.*1695G>T
|
rs35768126
|
|
NM_001378373.1(MBL2):c.*1743T>C
|
rs529374068
|
|
NM_001378373.1(MBL2):c.*2032C>T
|
rs977172176
|
|
NM_001378373.1(MBL2):c.*2033G>A
|
rs544901610
|
|
NM_001378373.1(MBL2):c.*2066G>T
|
rs886047044
|
|
NM_001378373.1(MBL2):c.*2129T>C
|
rs1382426241
|
|
NM_001378373.1(MBL2):c.*2470A>C
|
rs886047043
|
|
NM_001378373.1(MBL2):c.*2477C>T
|
rs55855374
|
|
NM_001378373.1(MBL2):c.*2648C>A
|
rs183826308
|
|
NM_001378373.1(MBL2):c.*2751A>C
|
rs758996436
|
|
NM_001378373.1(MBL2):c.*282A>G
|
rs886047051
|
|
NM_001378373.1(MBL2):c.*324C>T
|
rs551192639
|
|
NM_001378373.1(MBL2):c.*366G>A
|
rs1840327961
|
|
NM_001378373.1(MBL2):c.*783C>T
|
rs567802378
|
|
NM_001378373.1(MBL2):c.*937A>G
|
rs886047048
|
|
NM_001378373.1(MBL2):c.*953T>C
|
rs886047047
|
|
NM_001378373.1(MBL2):c.*966A>G
|
rs1336069649
|
|
NM_001378373.1(MBL2):c.163A>G (p.Thr55Ala)
|
rs886047053
|
|
NM_001378373.1(MBL2):c.187+9T>C
|
rs1840389903
|
|
NM_001378373.1(MBL2):c.549C>T (p.Phe183=)
|
rs1840337967
|
|
NM_001378373.1(MBL2):c.580C>A (p.Gln194Lys)
|
rs756763361
|
|
NM_001378373.1(MBL2):c.99T>G (p.Pro33=)
|
rs1840392728
|
|
NM_001701.4(BAAT):c.858C>G (p.Ser286=)
|
rs80356746
|
|
NM_001701.4(BAAT):c.967A>G (p.Ile323Val)
|
rs80356747
|
|
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.2023G>A (p.Val675Met)
|
|
|
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_001710.6(CFB):c.858C>G (p.Phe286Leu)
|
rs117905900
|
|
NM_001710.6(CFB):c.967A>G (p.Lys323Glu)
|
rs121909748
|
|
NM_001710.6(CFB):c.978A>G (p.Glu326=)
|
|
|
NM_001710.6(CFB):c.981A>T (p.Ala327=)
|
|
|
NM_001734.5(C1S):c.1132_1135del (p.Phe378fs)
|
rs2135727106
|
|
NM_001734.5(C1S):c.1198G>C (p.Glu400Gln)
|
rs150549869
|
|
NM_001734.5(C1S):c.1567C>T (p.Arg523Ter)
|
|
|
NM_001734.5(C1S):c.1729_1730del (p.Asp577fs)
|
|
|
NM_001735.3(C5):c.1115A>G (p.Lys372Arg)
|
rs587776846
|
|
NM_001735.3(C5):c.1287G>A (p.Thr429=)
|
rs145139701
|
|
NM_001735.3(C5):c.1506+17G>T
|
rs182918168
|
|
NM_001735.3(C5):c.1759A>T (p.Thr587Ser)
|
rs2047317447
|
|
NM_001735.3(C5):c.2563-15_2563-14delinsAT
|
rs2131724100
|
|
NM_001735.3(C5):c.2627A>G (p.Gln876Arg)
|
rs2047128695
|
|
NM_001735.3(C5):c.2827A>G (p.Thr943Ala)
|
rs2047115852
|
|
NM_001735.3(C5):c.3231-4A>C
|
rs777774046
|
|
NM_001735.3(C5):c.3676C>T (p.Arg1226Cys)
|
rs537101618
|
|
NM_001735.3(C5):c.4143C>A (p.Ile1381=)
|
rs150804933
|
|
NM_001735.3(C5):c.4336del (p.Val1446fs)
|
rs1554718962
|
|
NM_001735.3(C5):c.4652C>T (p.Thr1551Ile)
|
rs138510251
|
|
NM_001735.3(C5):c.4872_4873delinsG (p.Leu1625fs)
|
rs387906554
|
|
NM_001735.3(C5):c.4932G>C (p.Trp1644Cys)
|
rs2131656978
|
|
NM_001735.3(C5):c.584+18T>C
|
rs773328492
|
|
NM_001735.3(C5):c.813A>G (p.Ile271Met)
|
rs2131788839
|
|
NM_001735.3(C5):c.892C>G (p.Gln298Glu)
|
rs149346283
|
|
NM_001737.5(C9):c.1038_1042delinsT (p.Ser347fs)
|
rs1753477155
|
|
NM_001737.5(C9):c.1039_1042del (p.Ser347fs)
|
rs1027370764
|
|
NM_001737.5(C9):c.1184_1185del (p.Ser395fs)
|
rs752437276
|
|
NM_001737.5(C9):c.1346T>C (p.Val449Ala)
|
|
|
NM_001737.5(C9):c.1583G>A (p.Cys528Tyr)
|
|
|
NM_001737.5(C9):c.162C>A (p.Cys54Ter)
|
rs34000044
|
|
NM_001737.5(C9):c.1677del (p.Lys559fs)
|
rs762159491
|
|
NM_001737.5(C9):c.375C>A (p.Cys125Ter)
|
rs145434331
|
|
NM_001928.2(CFD):c.[638T>G;640T>C]
|
|
|
NM_002473.6(MYH9):c.5766-3del
|
rs141686520
|
|
NM_002473.6(MYH9):c.5781G>T (p.Pro1927=)
|
rs80050551
|
|
NM_003482.4(KMT2D):c.8626del (p.Gln2876fs)
|
rs1565789104
|
|
NM_003647.3(DGKE):c.1000C>T (p.Gln334Ter)
|
rs312262697
|
|
NM_003647.3(DGKE):c.1206TAA[1] (p.Asn403del)
|
|
|
NM_003647.3(DGKE):c.1A>T (p.Met1Leu)
|
rs1906465563
|
|
NM_003647.3(DGKE):c.301A>T (p.Lys101Ter)
|
rs777787526
|
|
NM_003647.3(DGKE):c.32C>A (p.Ser11Ter)
|
rs148605410
|
|
NM_003647.3(DGKE):c.447del (p.Lys150fs)
|
rs1906529223
|
|
NM_003647.3(DGKE):c.472dup (p.Trp158fs)
|
rs312262698
|
|
NM_003647.3(DGKE):c.486dup (p.Val163fs)
|
rs312262699
|
|
NM_003647.3(DGKE):c.610dup (p.Thr204fs)
|
rs147972030
|
|
NM_003647.3(DGKE):c.818G>C (p.Arg273Pro)
|
rs312262695
|
|
NM_003647.3(DGKE):c.889-1G>A
|
rs312262696
|
|
NM_003647.3(DGKE):c.942C>G (p.Asn314Lys)
|
rs749415630
|
|
NM_003647.3(DGKE):c.999G>A (p.Ala333=)
|
|
|
NM_003665.4(FCN3):c.142G>A (p.Gly48Arg)
|
|
|
NM_003665.4(FCN3):c.349del (p.Leu117fs)
|
rs532781899
|
|
NM_003665.4(FCN3):c.440G>T (p.Trp147Leu)
|
|
|
NM_003665.4(FCN3):c.797G>A (p.Arg266His)
|
|
|
NM_004054.4(C3AR1):c.355_356dup (p.Asp119fs)
|
rs869312973
|
|
NM_005666.4(CFHR2):c.212C>T (p.Thr71Met)
|
|
|
NM_005666.4(CFHR2):c.213G>A (p.Thr71=)
|
|
|
NM_005666.4(CFHR2):c.215G>A (p.Cys72Tyr)
|
|
|
NM_005666.4(CFHR2):c.791A>G (p.Tyr264Cys)
|
|
|
NM_006610.4(MASP2):c.*111C>T
|
rs886045052
|
|
NM_006610.4(MASP2):c.*220A>G
|
rs1643737115
|
|
NM_006610.4(MASP2):c.*282C>A
|
rs375230404
|
|
NM_006610.4(MASP2):c.*64C>T
|
rs1011130298
|
|
NM_006610.4(MASP2):c.1078G>A (p.Ala360Thr)
|
rs200844905
|
|
NM_006610.4(MASP2):c.1191A>C (p.Glu397Asp)
|
rs1643830509
|
|
NM_006610.4(MASP2):c.1231G>A (p.Val411Met)
|
rs367583731
|
|
NM_006610.4(MASP2):c.1254_1261delinsCCTCACACACTC (p.Trp418fs)
|
|
|
NM_006610.4(MASP2):c.1468C>T (p.His490Tyr)
|
rs1643757459
|
|
NM_006610.4(MASP2):c.1590C>T (p.Asp530=)
|
rs886045053
|
|
NM_006610.4(MASP2):c.1719G>C (p.Trp573Cys)
|
|
|
NM_006610.4(MASP2):c.1886G>C (p.Cys629Ser)
|
rs1236065829
|
|
NM_006610.4(MASP2):c.1903G>A (p.Gly635Arg)
|
|
|
NM_006610.4(MASP2):c.223G>A (p.Asp75Asn)
|
rs759383807
|
|
NM_006610.4(MASP2):c.242C>A (p.Ser81Ter)
|
rs148831269
|
|
NM_006610.4(MASP2):c.277G>C (p.Glu93Gln)
|
rs747767865
|
|
NM_006610.4(MASP2):c.437C>T (p.Pro146Leu)
|
rs1411989082
|
|
NM_006610.4(MASP2):c.612G>A (p.Pro204=)
|
rs72550853
|
|
NM_006610.4(MASP2):c.612G>T (p.Pro204=)
|
rs72550853
|
|
NM_006610.4(MASP2):c.808A>C (p.Lys270Gln)
|
rs886045054
|
|
NM_006610.4(MASP2):c.93A>T (p.Ala31=)
|
rs886045055
|
|
NM_007366.5(PLA2R1):c.3316G>A (p.Gly1106Ser)
|
|
|
NM_007366.5(PLA2R1):c.874A>G (p.Met292Val)
|
|
|
NM_007366.5(PLA2R1):c.898C>G (p.His300Asp)
|
|
|
NM_007375.4(TARDBP):c.*2294_*2295insGTTTT
|
rs3059695
|
|
NM_014140.4(SMARCAL1):c.2193del (p.Phe731fs)
|
rs1694866812
|
|
NM_015991.4(C1QA):c.210delinsAA (p.Gly71fs)
|
rs1642221044
|
|
NM_015991.4(C1QA):c.470G>A (p.Gly157Asp)
|
rs1570073403
|
|
NM_015991.4(C1QA):c.648G>A (p.Trp216Ter)
|
rs34139950
|
|
NM_015991.4(C1QA):c.79C>T (p.Arg27Ter)
|
rs952339666
|
|
NM_021023.6(CFHR3):c.839_840del (p.Ile280fs)
|
rs781400776
|
|
NM_021023.6(CFHR3):c.934A>T (p.Ile312Phe)
|
rs73073594
|
|
NM_021870.2(FGG):c.901C>T (p.Arg301Cys)
|
rs121913087
|
|
NM_021870.3(FGG):c.1190C>T (p.Thr397Ile)
|
rs1731071910
|
|
NM_021870.3(FGG):c.793C>T (p.Gln265Ter)
|
rs771279321
|
|
NM_021871.4(FGA):c.103C>G (p.Arg35Gly)
|
rs121909606
|
|
NM_021871.4(FGA):c.1055del (p.Pro352fs)
|
rs1299596156
|
|
NM_021871.4(FGA):c.1486G>T (p.Asp496Tyr)
|
rs2110809573
|
|
NM_030787.3:c.(58+1_59-1)_(430+1_431-1)dup
|
|
|
NM_030787.4(CFHR5):c.1106T>G (p.Val369Gly)
|
|
|
NM_030787.4(CFHR5):c.1214T>A (p.Val405Glu)
|
|
|
NM_030787.4(CFHR5):c.1264C>G (p.Leu422Val)
|
|
|
NM_030787.4(CFHR5):c.1541T>G (p.Met514Arg)
|
rs141321678
|
|
NM_030787.4(CFHR5):c.643T>C (p.Ser215Pro)
|
|
|
NM_030787.4(CFHR5):c.647A>T (p.Asn216Ile)
|
rs147488267
|
|
NM_030787.4(CFHR5):c.683G>C (p.Gly228Ala)
|
|
|
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
|
rs104886189
|
|
NM_139027.6(ADAMTS13):c.1351G>A (p.Ala451Thr)
|
rs375508823
|
|
NM_153704.6(TMEM67):c.333C>T (p.Gly111=)
|
|
|
NM_172351.3(CD46):c.*1099A>G
|
rs886045842
|
|
NM_172351.3(CD46):c.*1272C>T
|
rs1660101231
|
|
NM_172351.3(CD46):c.*1418T>C
|
rs1660116649
|
|
NM_172351.3(CD46):c.*1659A>G
|
rs886045844
|
|
NM_172351.3(CD46):c.*1865G>C
|
rs1660164008
|
|
NM_172351.3(CD46):c.*31A>G
|
rs886045839
|
|
NM_172351.3(CD46):c.*467T>C
|
rs953478028
|
|
NM_172351.3(CD46):c.*518A>G
|
rs867789788
|
|
NM_172351.3(CD46):c.101C>T (p.Ala34Val)
|
rs1571578126
|
|
NM_172351.3(CD46):c.1082+13A>T
|
rs1175018634
|
|
NM_172351.3(CD46):c.1090C>T (p.Leu364=)
|
rs1483201583
|
|
NM_172351.3(CD46):c.191G>T (p.Cys64Phe)
|
rs1655633353
|
|
NM_172351.3(CD46):c.217C>T (p.Pro73Ser)
|
|
|
NM_172351.3(CD46):c.286+27del
|
rs371729129
|
|
NM_172351.3(CD46):c.350_351dup (p.Glu118fs)
|
rs2102541856
|
|
NM_172351.3(CD46):c.404del (p.Gly135fs)
|
rs1571588257
|
|
NM_172351.3(CD46):c.476-1G>A
|
rs1441390681
|
|
NM_172351.3(CD46):c.476-6_476-5delinsG
|
rs1656165500
|
|
NM_172351.3(CD46):c.542_543del (p.Val180_Phe181insTer)
|
rs1057516191
|
|
NM_172351.3(CD46):c.558_559delinsCC (p.Val187Leu)
|
rs1656184011
|
|
NM_172351.3(CD46):c.604C>T (p.Leu202Phe)
|
rs750324925
|
|
NM_172351.3(CD46):c.685C>T (p.Arg229Ter)
|
rs1553251787
|
|
NM_172351.3(CD46):c.714_715del (p.Gln238fs)
|
rs1571616755
|
|
NM_172351.3(CD46):c.776del (p.Gly259fs)
|
rs886039868
|
|
NM_172351.3(CD46):c.800_801del (p.Thr267fs)
|
rs1558056827
|
|
NM_172351.3(CD46):c.811_816del (p.Asp271_Ser272del)
|
rs1255421232
|
|
NM_172351.3(CD46):c.828G>A (p.Trp276Ter)
|
rs1571617647
|
|
NM_172351.3(CD46):c.83del (p.Leu28fs)
|
|
|
NM_172351.3(CD46):c.857-124T>A
|
rs886045837
|
|
NM_172351.3(CD46):c.857-1G>A
|
|
|
NM_172351.3(CD46):c.907del (p.Arg303fs)
|
|
|
NM_172351.3(CD46):c.944-1G>C
|
|
|
NM_172351.3(CD46):c.949C>G (p.Pro317Ala)
|
rs886045838
|
|
NM_172369.5(C1QC):c.19_20delinsAA (p.Ser7Asn)
|
rs1557603993
|
|
NM_172369.5(C1QC):c.19delinsAA (p.Ser7fs)
|
|
|
NM_172369.5(C1QC):c.213del (p.Gln74fs)
|
rs761681612
|
|
NM_172369.5(C1QC):c.644AGG[1] (p.Glu216del)
|
|
|