NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser)
|
rs1800578
|
0.00057
|
NM_000204.5(CFI):c.355G>A (p.Gly119Arg)
|
rs141853578
|
0.00040
|
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)
|
rs121913059
|
0.00019
|
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter)
|
rs138924661
|
0.00016
|
NM_000064.4(C3):c.193A>C (p.Lys65Gln)
|
rs539992721
|
0.00005
|
NM_000204.5(CFI):c.1429+1G>C
|
rs368555424
|
0.00004
|
NM_000204.5(CFI):c.559C>T (p.Arg187Ter)
|
rs368615806
|
0.00004
|
NM_001710.6(CFB):c.1374G>A (p.Met458Ile)
|
rs200837114
|
0.00004
|
NM_172351.3(CD46):c.286+2T>G
|
rs769742294
|
0.00004
|
NM_000204.5(CFI):c.80_81del (p.Asp27fs)
|
rs886043418
|
0.00003
|
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)
|
rs150694809
|
0.00002
|
NM_000186.4(CFH):c.157C>T (p.Arg53Cys)
|
rs757785149
|
0.00001
|
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)
|
rs460184
|
0.00001
|
NC_000001.10:g.(196712876_196712928)_(196797494_196797546)del
|
|
|
NC_000001.11:g.196706898_196873196del
|
|
|
NM_000064.4(C3):c.3470T>C (p.Ile1157Thr)
|
rs1918142335
|
|
NM_000064.4(C3):c.3737_3738del (p.Asp1245_Phe1246insTer)
|
rs1568212112
|
|
NM_000064.4(C3):c.481C>T (p.Arg161Trp)
|
rs776423109
|
|
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.1574G>A (p.Trp525Ter)
|
rs1328357943
|
|
NM_000186.4(CFH):c.2397del (p.Glu800fs)
|
rs1131690796
|
|
NM_000186.4(CFH):c.2535dup (p.Gln846fs)
|
rs1573076111
|
|
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter)
|
rs121913057
|
|
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg)
|
rs886039869
|
|
NM_000186.4(CFH):c.3134-2A>G
|
rs1300996807
|
|
NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter)
|
rs1652987369
|
|
NM_000186.4(CFH):c.3493+2T>C
|
rs1652989506
|
|
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)
|
rs460897
|
|
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly)
|
rs121913051
|
|
NM_000186.4(CFH):c.710_711del (p.Lys236_Cys237insTer)
|
rs1553273733
|
|
NM_000204.5(CFI):c.1149-1G>A
|
|
|
NM_000204.5(CFI):c.1176_1177dup (p.Trp393fs)
|
rs758049059
|
|
NM_000204.5(CFI):c.763_772+9delinsGTATCCAC
|
rs2126214430
|
|
NM_000204.5(CFI):c.79del (p.Asp27fs)
|
|
|
NM_001011551.3(C1GALT1C1):c.266C>T (p.Thr89Ile)
|
|
|
NM_003647.3(DGKE):c.301A>T (p.Lys101Ter)
|
rs777787526
|
|
NM_003647.3(DGKE):c.447del (p.Lys150fs)
|
rs1906529223
|
|
NM_003647.3(DGKE):c.610dup (p.Thr204fs)
|
rs147972030
|
|
NM_030787.3:c.(58+1_59-1)_(430+1_431-1)dup
|
|
|
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
|
rs104886189
|
|
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.542_543del (p.Val180_Phe181insTer)
|
rs1057516191
|
|
NM_172351.3(CD46):c.604C>T (p.Leu202Phe)
|
rs750324925
|
|
NM_172351.3(CD46):c.714_715del (p.Gln238fs)
|
rs1571616755
|
|
NM_172351.3(CD46):c.776del (p.Gly259fs)
|
rs886039868
|
|
NM_172351.3(CD46):c.828G>A (p.Trp276Ter)
|
rs1571617647
|
|
NM_172351.3(CD46):c.907del (p.Arg303fs)
|
|
|