基因名 突变
FAM178A(NM_018121,family with sequence similarity 178, member A,1173aa) g.10:102684380C>A,c.1622C>A,p.S541Y
FAM178A(NM_018121,family with sequence similarity 178, member A,1173aa) g.10:102684299A>G,c.1541A>G,p.H514R
FAM178A(NM_018121,family with sequence similarity 178, member A,1173aa) g.10:102684190C>T,c.1432C>T,p.R478C
FAM178A(NM_018121,family with sequence similarity 178, member A,1173aa) g.10:102683920C>T,c.1162C>T,p.R388C
FAM178A(NM_018121,family with sequence similarity 178, member A,1173aa) g.10:102676996C>T,c.854C>T,p.P285L
FAM178A(NM_018121,family with sequence similarity 178, member A,1173aa) g.10:102676783G>A,c.641G>A,p.R214K
FAM178A(NM_018121,family with sequence similarity 178, member A,1173aa) g.10:102676587A>T,c.445A>T,p.I149F
FAM178A(NM_018121,family with sequence similarity 178, member A,1173aa) g.10:102676540G>A,c.398G>A,p.R133Q
FAM177B(NM_207468,family with sequence similarity 177, member B,158aa) g.1:222923351A>G,c.428A>G,p.Q143R
FAM177B(NM_207468,family with sequence similarity 177, member B,158aa) g.1:222922851_222922854del,c.286_289del,p.96fs
FAM177B(NM_207468,family with sequence similarity 177, member B,158aa) g.1:222920400G>A,c.218G>A,p.R73Q
FAM177B(NM_207468,family with sequence similarity 177, member B,158aa) g.1:222919895T>G,c.8T>G,p.I3S
FAM177A1(NM_001079519,family with sequence similarity 177, member A1,213aa) g.14:35550256T>C,c.464T>C,p.M155T
FAM177A1(NM_001079519,family with sequence similarity 177, member A1,213aa) g.14:35546356A>T,c.271A>T,p.T91S
FAM177A1(NM_001079519,family with sequence similarity 177, member A1,213aa) g.14:35515750G>T,c.12G>T,p.E4D
FAM175B(NM_032182,family with sequence similarity 175, member B,415aa) g.10:126515249G>A,c.353G>A,p.R118H
FAM175B(NM_032182,family with sequence similarity 175, member B,415aa) g.10:126508012G>A,c.260G>A,p.R87Q
FAM175A(NM_139076,family with sequence similarity 175, member A,409aa) g.4:84406219C>G,c.7G>C,p.G3R
FAM175A(NM_139076,family with sequence similarity 175, member A,409aa) g.4:84403360T>C,c.125A>G,p.K42R
FAM175A(NM_139076,family with sequence similarity 175, member A,409aa) g.4:84391410G>A,c.422C>T,p.T141I
FAM175A(NM_139076,family with sequence similarity 175, member A,409aa) g.4:84384667C>G,c.776G>C,p.G259A
FAM175A(NM_139076,family with sequence similarity 175, member A,409aa) g.4:84383911T>C,c.941A>G,p.N314S
FAM175A(NM_139076,family with sequence similarity 175, member A,409aa) g.4:84383810C>T,c.1042G>A,p.A348T
FAM175A(NM_139076,family with sequence similarity 175, member A,409aa) g.4:84383735C>T,c.1117G>A,p.D373N
FAM174B(NM_207446,family with sequence similarity 174, member B,159aa) g.15:93198784A>G,c.106T>C,p.W36R
FAM174B(NM_207446,family with sequence similarity 174, member B,159aa) g.15:93198687G>C,c.203C>G,p.S68C
FAM174B(NM_207446,family with sequence similarity 174, member B,159aa) g.15:93198684C>T,c.206G>A,p.S69N
FAM174B(NM_207446,family with sequence similarity 174, member B,159aa) g.15:93198681_93198686del,c.204_209del,p.68_70del
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