基因名 突变
LRPPRC(NM_133259,leucine-rich pentatricopeptide repeat containing,1394aa) g.2:44123819G>C,c.3854C>G,p.P1285R
LRPPRC(NM_133259,leucine-rich pentatricopeptide repeat containing,1394aa) g.2:44116923C>T,c.4078G>A,p.A1360T
LRPAP1(NM_002337,low density lipoprotein receptor-related protein associated protein 1,357aa) g.4:3534052T>A,c.88A>T,p.S30C
LRPAP1(NM_002337,low density lipoprotein receptor-related protein associated protein 1,357aa) g.4:3526646G>A,c.337C>T,p.R113C
LRPAP1(NM_002337,low density lipoprotein receptor-related protein associated protein 1,357aa) g.4:3526645C>T,c.338G>A,p.R113H
LRPAP1(NM_002337,low density lipoprotein receptor-related protein associated protein 1,357aa) g.4:3526642T>C,c.341A>G,p.N114S
LRPAP1(NM_002337,low density lipoprotein receptor-related protein associated protein 1,357aa) g.4:3526636T>C,c.347A>G,p.N116S
LRPAP1(NM_002337,low density lipoprotein receptor-related protein associated protein 1,357aa) g.4:3520694C>T,c.496G>A,p.G166S
LRPAP1(NM_002337,low density lipoprotein receptor-related protein associated protein 1,357aa) g.4:3520638G>T,c.552C>A,p.H184Q
LRPAP1(NM_002337,low density lipoprotein receptor-related protein associated protein 1,357aa) g.4:3519881C>T,c.631G>A,p.D211N
LRPAP1(NM_002337,low density lipoprotein receptor-related protein associated protein 1,357aa) g.4:3517844C>T,c.833G>A,p.R278Q
LRPAP1(NM_002337,low density lipoprotein receptor-related protein associated protein 1,357aa) g.4:3516559C>T,c.931G>A,p.V311M
LRPAP1(NM_002337,low density lipoprotein receptor-related protein associated protein 1,357aa) g.4:3516543C>T,c.947G>A,p.R316H
LRPAP1(NM_002337,low density lipoprotein receptor-related protein associated protein 1,357aa) g.4:3516528C>T,c.962G>A,p.R321H
LRPAP1(NM_002337,low density lipoprotein receptor-related protein associated protein 1,357aa) g.4:3516517C>T,c.973G>A,p.A325T
LRP8(NM_004631,low density lipoprotein receptor-related protein 8, apolipoprotein e receptor,963aa) g.1:53793511T>C,c.74A>G,p.Q25R
LRP8(NM_004631,low density lipoprotein receptor-related protein 8, apolipoprotein e receptor,963aa) g.1:53792651A>C,c.138T>G,p.D46E
LRP8(NM_004631,low density lipoprotein receptor-related protein 8, apolipoprotein e receptor,963aa) g.1:53746379C>T,c.376G>A,p.V126M
LRP8(NM_004631,low density lipoprotein receptor-related protein 8, apolipoprotein e receptor,963aa) g.1:53737015A>G,c.1010T>C,p.L337P
LRP8(NM_004631,low density lipoprotein receptor-related protein 8, apolipoprotein e receptor,963aa) g.1:53736959T>C,c.1066A>G,p.I356V
LRP8(NM_004631,low density lipoprotein receptor-related protein 8, apolipoprotein e receptor,963aa) g.1:53736736C>T,c.1216G>A,p.E406K
LRP8(NM_004631,low density lipoprotein receptor-related protein 8, apolipoprotein e receptor,963aa) g.1:53732315G>T,c.1257C>A,p.G419G
LRP8(NM_004631,low density lipoprotein receptor-related protein 8, apolipoprotein e receptor,963aa) g.1:53729914C>T,c.1582G>A,p.G528S
LRP8(NM_004631,low density lipoprotein receptor-related protein 8, apolipoprotein e receptor,963aa) g.1:53729908G>A,c.1588C>T,p.R530C
LRP8(NM_004631,low density lipoprotein receptor-related protein 8, apolipoprotein e receptor,963aa) g.1:53729886C>T,c.1610G>A,p.R537H
LRP8(NM_004631,low density lipoprotein receptor-related protein 8, apolipoprotein e receptor,963aa) g.1:53726226G>A,c.1966C>T,p.R656W
LRP8(NM_004631,low density lipoprotein receptor-related protein 8, apolipoprotein e receptor,963aa) g.1:53723115G>A,c.2231C>T,p.T744M
LRP8(NM_004631,low density lipoprotein receptor-related protein 8, apolipoprotein e receptor,963aa) g.1:53722953G>A,c.2393C>T,p.P798L
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