NM_000186.4(CFH):c.1204C>T (p.His402Tyr)
|
rs1061170
|
0.63625
|
NM_000186.4(CFH):c.921A>C (p.Ala307=)
|
rs1061147
|
0.61990
|
NM_000186.4(CFH):c.1419G>A (p.Ala473=)
|
rs2274700
|
0.43407
|
NM_000186.4(CFH):c.59-36C>T
|
rs551397
|
0.40527
|
NM_000186.4(CFH):c.184G>A (p.Val62Ile)
|
rs800292
|
0.40446
|
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp)
|
rs1065489
|
0.14779
|
NM_000186.4(CFH):c.2016A>G (p.Gln672=)
|
rs3753396
|
0.14639
|
NM_000186.4(CFH):c.*178T>A
|
rs488738
|
0.08528
|
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu)
|
rs534399
|
0.08522
|
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile)
|
rs515299
|
0.06393
|
NM_000186.3(CFH):c.-195T>C
|
rs35836460
|
0.04685
|
NM_000186.4(CFH):c.1160-15T>C
|
rs34815383
|
0.03666
|
NM_000186.3(CFH):c.-79A>G
|
rs35906110
|
0.02400
|
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr)
|
rs35343172
|
0.02118
|
NM_021023.6(CFHR3):c.424C>T (p.Arg142Cys)
|
rs61737525
|
0.02034
|
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr)
|
rs35274867
|
0.01982
|
NM_000186.4(CFH):c.*98C>T
|
rs35742764
|
0.01872
|
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_000186.4(CFH):c.245-7G>A
|
rs35814900
|
0.01519
|
NM_000186.4(CFH):c.1428A>G (p.Gln476=)
|
rs34399588
|
0.01440
|
NM_000186.4(CFH):c.2236+8T>A
|
rs7537967
|
0.01429
|
NM_021023.6(CFHR3):c.720G>C (p.Gln240His)
|
rs149347641
|
0.01005
|
NM_000186.4(CFH):c.2634C>T (p.His878=)
|
rs35292876
|
0.00829
|
NM_021023.6(CFHR3):c.101T>G (p.Phe34Cys)
|
rs61737523
|
0.00809
|
NM_002113.3(CFHR1):c.19del (p.Ser6_Val7insTer)
|
rs769938205
|
0.00770
|
NM_000186.4(CFH):c.1159+19T>G
|
rs35695425
|
0.00756
|
NM_000186.4(CFH):c.3102T>C (p.Asn1034=)
|
rs34594237
|
0.00750
|
NM_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_000186.4(CFH):c.428-14T>C
|
rs184188486
|
0.00271
|
NM_000186.4(CFH):c.3150T>C (p.Asn1050=)
|
rs113347629
|
0.00269
|
NM_000186.4(CFH):c.3207T>C (p.Ser1069=)
|
rs62641697
|
0.00219
|
NM_000186.4(CFH):c.2867C>T (p.Thr956Met)
|
rs145975787
|
0.00130
|
NM_000186.4(CFH):c.1707C>T (p.Cys569=)
|
rs144976181
|
0.00129
|
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val)
|
rs139520520
|
0.00112
|
NM_000186.4(CFH):c.1935G>T (p.Thr645=)
|
rs56035657
|
0.00105
|
NM_000186.4(CFH):c.245-15T>C
|
rs200079172
|
0.00052
|
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_000186.4(CFH):c.172T>G (p.Ser58Ala)
|
rs141336681
|
0.00047
|
NM_000186.4(CFH):c.1825G>A (p.Val609Ile)
|
rs148165372
|
0.00042
|
NM_000186.4(CFH):c.2821G>T (p.Val941Phe)
|
rs529491401
|
0.00039
|
NM_000186.4(CFH):c.245-8C>T
|
rs537160602
|
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_000186.4(CFH):c.2171C>A (p.Thr724Lys)
|
rs142902005
|
0.00032
|
NM_000186.4(CFH):c.2957-7A>G
|
rs190778135
|
0.00031
|
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_000186.4(CFH):c.3079G>C (p.Ala1027Pro)
|
rs373385518
|
0.00026
|
NM_000186.4(CFH):c.3133+4C>G
|
rs374729595
|
0.00025
|
NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu)
|
rs62625015
|
0.00025
|
NM_000186.4(CFH):c.3291G>A (p.Thr1097=)
|
rs409953
|
0.00023
|
NM_000186.4(CFH):c.1949G>T (p.Gly650Val)
|
rs143237092
|
0.00021
|
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_000186.4(CFH):c.2675C>T (p.Ala892Val)
|
rs151068461
|
0.00017
|
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_000186.4(CFH):c.388G>A (p.Asp130Asn)
|
rs147002633
|
0.00013
|
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_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_000186.4(CFH):c.3045T>C (p.Thr1015=)
|
rs147864267
|
0.00009
|
NM_000186.4(CFH):c.3318A>G (p.Thr1106=)
|
rs1137971
|
0.00009
|
NM_000186.4(CFH):c.350+9T>C
|
rs201686629
|
0.00007
|
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_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_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_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_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_002113.3(CFHR1):c.643G>A (p.Asp215Asn)
|
rs781409951
|
0.00002
|
NM_000186.4(CFH):c.*14G>A
|
rs463726
|
0.00001
|
NM_000186.4(CFH):c.100A>T (p.Thr34Ser)
|
rs1389897706
|
0.00001
|
NM_000186.4(CFH):c.1357A>T (p.Ile453Leu)
|
rs1450633243
|
0.00001
|
NM_000186.4(CFH):c.1474A>G (p.Ile492Val)
|
rs892717090
|
0.00001
|
NM_000186.4(CFH):c.157C>T (p.Arg53Cys)
|
rs757785149
|
0.00001
|
NM_000186.4(CFH):c.1612G>C (p.Asp538His)
|
rs778051521
|
0.00001
|
NM_000186.4(CFH):c.1697-3A>C
|
rs778174105
|
0.00001
|
NM_000186.4(CFH):c.1744C>T (p.Arg582Cys)
|
rs144696019
|
0.00001
|
NM_000186.4(CFH):c.1745G>A (p.Arg582His)
|
rs138890387
|
0.00001
|
NM_000186.4(CFH):c.1864A>G (p.Ile622Val)
|
rs990484984
|
0.00001
|
NM_000186.4(CFH):c.1934C>T (p.Thr645Met)
|
rs749232210
|
0.00001
|
NM_000186.4(CFH):c.2047G>A (p.Val683Met)
|
rs573295841
|
0.00001
|
NM_000186.4(CFH):c.2151C>A (p.Phe717Leu)
|
rs763441589
|
0.00001
|
NM_000186.4(CFH):c.2236+10C>G
|
rs755790229
|
0.00001
|
NM_000186.4(CFH):c.2314G>A (p.Asp772Asn)
|
rs374704701
|
0.00001
|
NM_000186.4(CFH):c.2416G>T (p.Ala806Ser)
|
rs753331225
|
0.00001
|
NM_000186.4(CFH):c.2542G>A (p.Gly848Arg)
|
rs886045746
|
0.00001
|
NM_000186.4(CFH):c.2753G>A (p.Gly918Glu)
|
rs1408179720
|
0.00001
|
NM_000186.4(CFH):c.2784C>A (p.Gly928=)
|
rs755926856
|
0.00001
|
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser)
|
rs149938052
|
0.00001
|
NM_000186.4(CFH):c.2946A>G (p.Pro982=)
|
rs553471643
|
0.00001
|
NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly)
|
rs1366929531
|
0.00001
|
NM_000186.4(CFH):c.3134-7T>C
|
rs779166622
|
0.00001
|
NM_000186.4(CFH):c.3357C>G (p.Asp1119Glu)
|
rs1408795010
|
0.00001
|
NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe)
|
rs771435716
|
0.00001
|
NM_000186.4(CFH):c.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_002113.3(CFHR1):c.869T>C (p.Leu290Ser)
|
rs200832275
|
0.00001
|
NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del
|
|
|
NM_000064.4(C3):c.3635C>T (p.Thr1212Ile)
|
|
|
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.1154G>T (p.Cys385Phe)
|
|
|
NM_000186.4(CFH):c.1159+4A>T
|
|
|
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.1520-2A>G
|
|
|
NM_000186.4(CFH):c.1609del (p.His537fs)
|
|
|
NM_000186.4(CFH):c.1616G>T (p.Gly539Val)
|
rs1027258331
|
|
NM_000186.4(CFH):c.1617T>C (p.Gly539=)
|
|
|
NM_000186.4(CFH):c.1690T>C (p.Cys564Arg)
|
|
|
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly)
|
rs757756991
|
|
NM_000186.4(CFH):c.1795C>A (p.Pro599Thr)
|
|
|
NM_000186.4(CFH):c.1935G>A (p.Thr645=)
|
rs56035657
|
|
NM_000186.4(CFH):c.1984A>G (p.Arg662Gly)
|
rs760174473
|
|
NM_000186.4(CFH):c.2030A>G (p.Glu677Gly)
|
|
|
NM_000186.4(CFH):c.2054T>C (p.Ile685Thr)
|
rs1431491220
|
|
NM_000186.4(CFH):c.2072G>C (p.Cys691Ser)
|
rs2149108610
|
|
NM_000186.4(CFH):c.213G>A (p.Trp71Ter)
|
rs1210674261
|
|
NM_000186.4(CFH):c.2215A>G (p.Thr739Ala)
|
rs886045745
|
|
NM_000186.4(CFH):c.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.245-1G>C
|
|
|
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.2609G>A (p.Cys870Tyr)
|
|
|
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.284C>A (p.Thr95Asn)
|
|
|
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.3104G>A (p.Ser1035Asn)
|
|
|
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.3152C>T (p.Pro1051Leu)
|
|
|
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.320G>T (p.Gly107Val)
|
|
|
NM_000186.4(CFH):c.3306C>G (p.Cys1102Trp)
|
|
|
NM_000186.4(CFH):c.3427C>G (p.Gln1143Glu)
|
rs15809
|
|
NM_000186.4(CFH):c.3446G>A (p.Arg1149Gln)
|
rs1064795727
|
|
NM_000186.4(CFH):c.3449T>G (p.Ile1150Arg)
|
rs2149118066
|
|
NM_000186.4(CFH):c.3472dup (p.Ser1158fs)
|
|
|
NM_000186.4(CFH):c.3493C>T (p.His1165Tyr)
|
|
|
NM_000186.4(CFH):c.350+15C>T
|
rs190197472
|
|
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser)
|
rs1573087200
|
|
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe)
|
rs2149118712
|
|
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>A (p.Arg1215Gln)
|
|
|
NM_000186.4(CFH):c.3677_*4del (p.Pro1226_Ter1232delinsXaa)
|
rs796052136
|
|
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_001701.4(BAAT):c.858C>G (p.Ser286=)
|
rs80356746
|
|
NM_001701.4(BAAT):c.967A>G (p.Ile323Val)
|
rs80356747
|
|
NM_002113.3(CFHR1):c.208A>G (p.Ile70Val)
|
|
|
NM_003647.3(DGKE):c.447del (p.Lys150fs)
|
rs1906529223
|
|
NM_003647.3(DGKE):c.942C>G (p.Asn314Lys)
|
rs749415630
|
|
NM_004054.4(C3AR1):c.355_356dup (p.Asp119fs)
|
rs869312973
|
|
NM_021023.6(CFHR3):c.839_840del (p.Ile280fs)
|
rs781400776
|
|
NM_021023.6(CFHR3):c.934A>T (p.Ile312Phe)
|
rs73073594
|
|
NM_021023.6(CFHR3):c.952_953insGGAA (p.Val318fs)
|
|
|