NM_001378373.1(MBL2):c.161G>A (p.Gly54Asp)
|
rs1800450
|
0.11335
|
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu)
|
rs1800451
|
0.08024
|
NM_001378373.1(MBL2):c.154C>T (p.Arg52Cys)
|
rs5030737
|
0.04964
|
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly)
|
rs72550870
|
0.02284
|
NM_000065.5(C6):c.1879del (p.Asp627fs)
|
rs61469168
|
0.00328
|
NM_000361.3(THBD):c.127G>A (p.Ala43Thr)
|
rs1800576
|
0.00255
|
NM_000065.5(C6):c.2381+2T>C
|
rs76202909
|
0.00242
|
NM_000065.5(C6):c.1138del (p.Gln380fs)
|
rs375762365
|
0.00206
|
NM_000065.5(C6):c.821del (p.Gln274fs)
|
rs557023458
|
0.00131
|
NM_000066.4(C8B):c.1282C>T (p.Arg428Ter)
|
rs41286844
|
0.00118
|
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser)
|
rs1800578
|
0.00057
|
NM_001735.3(C5):c.55C>T (p.Gln19Ter)
|
rs121909587
|
0.00043
|
NM_000204.5(CFI):c.355G>A (p.Gly119Arg)
|
rs141853578
|
0.00040
|
NM_001737.5(C9):c.346C>T (p.Arg116Ter)
|
rs121909592
|
0.00026
|
NM_000066.4(C8B):c.271C>T (p.Gln91Ter)
|
rs146187042
|
0.00023
|
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)
|
rs121913059
|
0.00019
|
NM_001735.3(C5):c.4426C>T (p.Arg1476Ter)
|
rs121909588
|
0.00018
|
NM_000204.5(CFI):c.772G>A (p.Ala258Thr)
|
rs199688124
|
0.00014
|
NM_000562.3(C8A):c.1270C>T (p.Arg424Ter)
|
rs140856114
|
0.00014
|
NM_001737.5(C9):c.355T>G (p.Cys119Gly)
|
rs121909593
|
0.00013
|
NM_000066.4(C8B):c.820C>T (p.Arg274Ter)
|
rs140813121
|
0.00006
|
NM_000204.5(CFI):c.949C>T (p.Arg317Trp)
|
rs121964917
|
0.00006
|
NM_000587.4(C7):c.1135G>C (p.Gly379Arg)
|
rs121964921
|
0.00006
|
NM_001928.4(CFD):c.125C>A (p.Ser42Ter)
|
rs104894667
|
0.00006
|
NM_001737.5(C9):c.460C>T (p.Arg154Ter)
|
rs144138616
|
0.00005
|
NM_172369.5(C1QC):c.100G>A (p.Gly34Arg)
|
rs200206736
|
0.00005
|
NM_000587.4(C7):c.63-1G>A
|
rs1022194067
|
0.00004
|
NM_001737.5(C9):c.1280C>G (p.Ser427Ter)
|
rs121909594
|
0.00004
|
NM_015991.4(C1QA):c.622C>T (p.Gln208Ter)
|
rs121909581
|
0.00004
|
NM_172369.5(C1QC):c.490G>A (p.Gly164Ser)
|
rs752596663
|
0.00004
|
NM_000204.5(CFI):c.1420C>T (p.Arg474Ter)
|
rs121964913
|
0.00003
|
NM_000562.3(C8A):c.171+1G>T
|
rs775967055
|
0.00002
|
NM_000186.4(CFH):c.3514G>T (p.Glu1172Ter)
|
rs121913060
|
0.00001
|
NM_000204.5(CFI):c.1555G>A (p.Asp519Asn)
|
rs121964918
|
0.00001
|
NM_000204.5(CFI):c.728G>A (p.Gly243Asp)
|
rs121964916
|
0.00001
|
NM_000361.3(THBD):c.158A>G (p.Asp53Gly)
|
rs121918667
|
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_172351.3(CD46):c.104G>A (p.Cys35Tyr)
|
rs121909591
|
0.00001
|
NM_172351.3(CD46):c.175C>T (p.Arg59Ter)
|
rs121909590
|
0.00001
|
NM_172351.3(CD46):c.718T>C (p.Ser240Pro)
|
rs121909589
|
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_000019.10:g.(6695981_6695999)_(6696810_6696831)del
|
|
|
NM_000064.4(C3):c.1775G>A (p.Arg592Gln)
|
rs121909583
|
|
NM_000064.4(C3):c.2354+1G>A
|
rs112996548
|
|
NM_000064.4(C3):c.2562C>G (p.Tyr854Ter)
|
rs121909586
|
|
NM_000064.4(C3):c.3281C>T (p.Ala1094Val)
|
rs121909584
|
|
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn)
|
rs121909585
|
|
NM_000064.4(C3):c.4631-2A>G
|
rs111595742
|
|
NM_000065.5(C6):c.237del (p.Ile80fs)
|
rs398122811
|
|
NM_000065.5(C6):c.828del (p.Ser277fs)
|
rs372345940
|
|
NM_000066.4(C8B):c.1041_1047dup (p.Leu350fs)
|
rs398122868
|
|
NM_000066.4(C8B):c.336del (p.Asn113fs)
|
rs372968576
|
|
NM_000066.4(C8B):c.361C>T (p.Arg121Ter)
|
rs150022116
|
|
NM_000066.4(C8B):c.605del (p.Pro202fs)
|
rs398122867
|
|
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter)
|
rs121913057
|
|
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.3677_*4del (p.Pro1226_Ter1232delinsXaa)
|
rs796052136
|
|
NM_000186.4(CFH):c.83_86del (p.Arg28fs)
|
rs796052137
|
|
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs)
|
rs758049059
|
|
NM_000204.5(CFI):c.1253A>T (p.His418Leu)
|
rs121964912
|
|
NM_000204.5(CFI):c.1571A>T (p.Asp524Val)
|
rs121964914
|
|
NM_000204.5(CFI):c.1637G>A (p.Trp546Ter)
|
rs121964915
|
|
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.2140_2141del (p.Val714fs)
|
rs1467298230
|
|
NM_000587.4(C7):c.2184T>A (p.Cys728Ter)
|
rs387906509
|
|
NM_001242823.2(C4B_2):c.3694_3695dup (p.Val1233fs)
|
rs760602547
|
|
NM_001378156.1(C1QB):c.181+1G>T
|
rs1361922961
|
|
NM_001710.6(CFB):c.858C>G (p.Phe286Leu)
|
rs117905900
|
|
NM_001710.6(CFB):c.967A>G (p.Lys323Glu)
|
rs121909748
|
|
NM_001734.5(C1S):c.1132_1135del (p.Phe378fs)
|
rs2135727106
|
|
NM_001734.5(C1S):c.1567C>T (p.Arg523Ter)
|
|
|
NM_001735.3(C5):c.1115A>G (p.Lys372Arg)
|
rs587776846
|
|
NM_001735.3(C5):c.4872_4873delinsG (p.Leu1625fs)
|
rs387906554
|
|
NM_001737.5(C9):c.1583G>A (p.Cys528Tyr)
|
|
|
NM_001737.5(C9):c.162C>A (p.Cys54Ter)
|
rs34000044
|
|
NM_001928.2(CFD):c.[638T>G;640T>C]
|
|
|
NM_003665.4(FCN3):c.349del (p.Leu117fs)
|
rs532781899
|
|
NM_015991.4(C1QA):c.648G>A (p.Trp216Ter)
|
rs34139950
|
|
NM_172351.3(CD46):c.800_801del (p.Thr267fs)
|
rs1558056827
|
|
NM_172351.3(CD46):c.811_816del (p.Asp271_Ser272del)
|
rs1255421232
|
|
NM_172369.5(C1QC):c.213del (p.Gln74fs)
|
rs761681612
|
|