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. 2017 Nov 17;31(3):488–494. doi: 10.1038/modpathol.2017.154

Table 2. Variants of uncertain significance in complement and coagulation genes predicted to not be deleterious by some or all prediction methods.

Gene Patient AA change Nucleotide dbSNP ID In-silico prediction
C1S 14 p.K210T c.629 A>C rs782009231 Mixed
C2 15 p.N310S c.929 A>G rs144201432 All predict benign
C2 16 p.P724L c.2171C>T rs145050210 All predict benign
C3 17 p.K155Q c.463 A>C rs147859257 All predict benign
C3AR1 18 p.S308A c.922 T>G rs757235303 All predict benign
C8A 19 p.R485L c.1454_1455delGCinsTT rs386631447 Mixed
C8A 15 p.D129N c.385G>A rs150404785 Mixed
C9 20 p.D80N c.238G>A rs115196369 All predict benign
CD46 21 p.R82W c.244C>T rs200133631 Mixed
CFB 22 p.I242L c.724 A>C rs144812066 Mixed
CFB 17 p.S284N c.851G>A rs756948669 All predict benign
CFH 17 p.Q950H c.2850G>T rs149474608 Mixed
CFH 23 p.R166L c.497G>T None Mixed
CFH 24 Splice site c.3134-5 T>A rs513699 Mixed
CFH 25 p.P43T c.127C>A rs764941928 All predict benign
CFH 26 p.T956M c.2687C>T rs145975787 All predict benign
CFHR4 27 p.Y362H c.1084 T>C rs201636212 Mixed
CFHR4 28 p.W233C c.699G>C rs116119247 Mixed
CFHR4 29 p.Y35H c.103 T>C rs138792300 Mixed
CFHR4 4 p.L561I c.1681C>A rs80010185 All predict benign
CFHR5 30 p.C568Ter c.1704 T>A rs143140599 Mixed
CFHR5 31 p.G471E c.1412G>A rs144438200 Mixed
CFI 32 p.K267E c.799 A>G rs75612300 Mixed
CFI 33 p.I416L c.1246 A>C rs61733901 Mixed
CFI 34 p.H183R c.548 A>G rs75612300 Mixed
CR2 20 p.V946M c.2836G>A rs147451324 Mixed
CR2 35 p.R428H c.1283G>A rs183067414 Mixed
CR2 36 Splice site c.2903-3C>A rs372214909 All predict benign
CR2 37 p.S1016L c.3047C>T rs138062179 All predict benign
MASP1 2 p.R288Q c.863G>A rs116001173 Mixed
MASP1 38 p.R441H c.1322G>A rs141872329 Mixed
PLG 39 p.T742N c.2225C>A None Mixed
PLG 40 Splice site c.407+8 A>G None All predict benign
PLG 22 p.D258N c.772G>A rs138242513 All predict benign