基因名 突变
NLRP14(NM_176822,NLR family, pyrin domain containing 14,1093aa) g.11:7060977A>T,c.322A>T,p.K108X
NLRP14(NM_176822,NLR family, pyrin domain containing 14,1093aa) g.11:7060948C>T,c.293C>T,p.S98L
NLRP14(NM_176822,NLR family, pyrin domain containing 14,1093aa) g.11:7060092A>G,c.275A>G,p.K92R
NLRP14(NM_176822,NLR family, pyrin domain containing 14,1093aa) g.11:7060074A>T,c.257A>T,p.D86V
NLRP14(NM_176822,NLR family, pyrin domain containing 14,1093aa) g.11:7059981G>A,c.164G>A,p.R55Q
NLRP14(NM_176822,NLR family, pyrin domain containing 14,1093aa) g.11:7059960A>C,c.143A>C,p.N48T
NLRP14(NM_176822,NLR family, pyrin domain containing 14,1093aa) g.11:7059878G>A,c.61G>A,p.E21K
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56443601T>C,c.77A>G,p.Q26R
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56443467G>T,c.211C>A,p.L71I
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56443394G>A,c.284C>T,p.T95I
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56443368C>T,c.310G>A,p.E104K
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56436357G>C,c.364C>G,p.L122V
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56435974C>T,c.439G>A,p.E147K
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56424569C>T,c.614G>A,p.R205H
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56424494G>A,c.689C>T,p.T230M
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56424443T>C,c.740A>G,p.Q247R
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56423925_56423928del,c.1255_1258del,p.419fs
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56423626G>C,c.1557C>G,p.F519L
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56423274G>A,c.1909C>T,p.R637X
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56423253C>T,c.1930G>A,p.E644K
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56419263T>C,c.2342A>G,p.N781S
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56416380C>T,c.2546G>A,p.R849Q
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56416347G>A,c.2579C>T,p.A860V
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56413426G>C,c.2764C>G,p.P922A
NLRP13(NM_176810,NLR family, pyrin domain containing 13,1043aa) g.19:56407459G>A,c.2984C>T,p.A995V
NLRP12(NM_001277126,NLR family, pyrin domain containing 12,1062aa) g.19:54327313C>A,c.116G>T,p.G39V
NLRP12(NM_001277126,NLR family, pyrin domain containing 12,1062aa) g.19:54327275C>T,c.154G>A,p.G52S
NLRP12(NM_001277126,NLR family, pyrin domain containing 12,1062aa) g.19:54327193C>T,c.236G>A,p.R79Q
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org