基因名 突变
LSS(NM_001145437,lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase),652aa) g.21:47614469A>C,c.1684T>G,p.L562V
LSS(NM_001145437,lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase),652aa) g.21:47611799G>A,c.1823C>T,p.P608L
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35758745G>C,c.1933G>C,p.E645Q
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35758620G>A,c.1897G>A,p.E633K
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35758467G>A,c.1744G>A,p.G582R
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35758283C>A,c.1560C>A,p.S520R
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35758277_35758278insAGG,c.1554_1555insAGG,p.518_519ins1aa
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35758276_35758277insGAG,c.1553_1554insGAG,p.518ins1aa
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35758275G>A,c.1552G>A,p.G518R
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35758275_35758276insGGA,c.1552_1553insGGA,p.518ins1aa
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35758131G>A,c.1408G>A,p.G470R
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35757838G>A,c.1256G>A,p.R419Q
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35757427G>A,c.1088G>A,p.S363N
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35752883A>C,c.774A>C,p.E258D
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35741542G>A,c.578G>A,p.R193Q
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35741486G>T,c.522G>T,p.R174S
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35741454G>A,c.490G>A,p.V164I
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35741314C>T,c.350C>T,p.S117L
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35739908C>T,c.127C>T,p.R43C
LSR(NM_205834,lipolysis stimulated lipoprotein receptor,649aa) g.19:35739852G>A,c.71G>A,p.W24X
LSP1(NM_001242932,lymphocyte-specific protein 1,467aa) g.11:1905516G>T,c.982G>T,p.D328Y
LSP1(NM_001242932,lymphocyte-specific protein 1,467aa) g.11:1905219G>A,c.940G>A,p.E314K
LSP1(NM_001242932,lymphocyte-specific protein 1,467aa) g.11:1904714G>A,c.806G>A,p.S269N
LSP1(NM_001242932,lymphocyte-specific protein 1,467aa) g.11:1902793A>T,c.707A>T,p.Q236L
LSP1(NM_001242932,lymphocyte-specific protein 1,467aa) g.11:1902768G>A,c.682G>A,p.A228T
LSP1(NM_001242932,lymphocyte-specific protein 1,467aa) g.11:1901435C>T,c.556C>T,p.R186W
LSP1(NM_001242932,lymphocyte-specific protein 1,467aa) g.11:1887806T>A,c.102T>A,p.H34Q
LSP1(NM_001242932,lymphocyte-specific protein 1,467aa) g.11:1887763C>G,c.59C>G,p.P20R
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