ClinVar Miner

List of variants studied for complement deficiency

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1500
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HGVS dbSNP gnomAD frequency
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)

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