基因名 突变
FAM117A(NM_030802,family with sequence similarity 117, member A,453aa) g.17:47788784G>A,c.1195C>T,p.R399C
FAM115C(NM_001130026,family with sequence similarity 115, member C,815aa) g.7:143421704C>T,c.2107C>T,p.R703X
FAM115C(NM_001130026,family with sequence similarity 115, member C,815aa) g.7:143421644C>A,c.2047C>A,p.H683N
FAM115C(NM_001130026,family with sequence similarity 115, member C,815aa) g.7:143421641G>A,c.2044G>A,p.V682M
FAM115C(NM_001130026,family with sequence similarity 115, member C,815aa) g.7:143417982T>C,c.1207T>C,p.S403P
FAM115C(NM_001130026,family with sequence similarity 115, member C,815aa) g.7:143417083T>C,c.439T>C,p.C147R
FAM115A(NM_001206938,family with sequence similarity 115, member A,919aa) g.7:143573263C>T,c.439G>A,p.G147S
FAM115A(NM_001206938,family with sequence similarity 115, member A,919aa) g.7:143573133G>A,c.569C>T,p.T190M
FAM114A2(NM_018691,family with sequence similarity 114, member A2,505aa) g.5:153414430C>A,c.84G>T,p.K28N
FAM114A2(NM_018691,family with sequence similarity 114, member A2,505aa) g.5:153413912T>G,c.236A>C,p.Q79P
FAM114A2(NM_018691,family with sequence similarity 114, member A2,505aa) g.5:153413390C>T,c.364G>A,p.G122S
FAM114A2(NM_018691,family with sequence similarity 114, member A2,505aa) g.5:153413359T>C,c.395A>G,p.Y132C
FAM114A2(NM_018691,family with sequence similarity 114, member A2,505aa) g.5:153406887C>T,c.638G>A,p.R213Q
FAM114A2(NM_018691,family with sequence similarity 114, member A2,505aa) g.5:153381848C>T,c.1219G>A,p.E407K
FAM114A2(NM_018691,family with sequence similarity 114, member A2,505aa) g.5:153381842T>C,c.1225A>G,p.T409A
FAM114A2(NM_018691,family with sequence similarity 114, member A2,505aa) g.5:153377395T>C,c.1297A>G,p.K433E
FAM114A1(NM_138389,family with sequence similarity 114, member A1,563aa) g.4:38933902G>A,c.1370G>A,p.R457H
FAM114A1(NM_138389,family with sequence similarity 114, member A1,563aa) g.4:38933869C>T,c.1337C>T,p.S446L
FAM114A1(NM_138389,family with sequence similarity 114, member A1,563aa) g.4:38933859G>A,c.1327G>A,p.V443I
FAM114A1(NM_138389,family with sequence similarity 114, member A1,563aa) g.4:38930893G>A,c.1100G>A,p.R367H
FAM114A1(NM_138389,family with sequence similarity 114, member A1,563aa) g.4:38930892C>T,c.1099C>T,p.R367C
FAM114A1(NM_138389,family with sequence similarity 114, member A1,563aa) g.4:38924476C>A,c.1031C>A,p.A344D
FAM114A1(NM_138389,family with sequence similarity 114, member A1,563aa) g.4:38910316C>T,c.761C>T,p.T254M
FAM114A1(NM_138389,family with sequence similarity 114, member A1,563aa) g.4:38910307G>A,c.752G>A,p.R251Q
FAM114A1(NM_138389,family with sequence similarity 114, member A1,563aa) g.4:38910217A>G,c.662A>G,p.K221R
FAM114A1(NM_138389,family with sequence similarity 114, member A1,563aa) g.4:38907441C>T,c.616C>T,p.R206W
FAM114A1(NM_138389,family with sequence similarity 114, member A1,563aa) g.4:38907236C>G,c.530C>G,p.T177S
FAM114A1(NM_138389,family with sequence similarity 114, member A1,563aa) g.4:38907187C>T,c.481C>T,p.R161W
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