基因名 突变
GRPEL1(NM_025196,GrpE-like 1, mitochondrial (E. coli),217aa) g.4:7062894C>T,c.349G>A,p.V117I
GRN(NM_002087,granulin,593aa) g.17:42430074C>T,c.1690C>T,p.R564C
GRN(NM_002087,granulin,593aa) g.17:42429912del,c.1617del,p.539fs
GRN(NM_002087,granulin,593aa) g.17:42429850G>A,c.1555G>A,p.V519M
GRN(NM_002087,granulin,593aa) g.17:42429839G>C,c.1544G>C,p.G515A
GRN(NM_002087,granulin,593aa) g.17:42429500C>T,c.1297C>T,p.R433W
GRN(NM_002087,granulin,593aa) g.17:42429464G>A,c.1261G>A,p.E421K
GRN(NM_002087,granulin,593aa) g.17:42428973C>T,c.989C>T,p.T330M
GRN(NM_002087,granulin,593aa) g.17:42428954G>A,c.970G>A,p.A324T
GRN(NM_002087,granulin,593aa) g.17:42428095G>A,c.635G>A,p.R212Q
GRN(NM_002087,granulin,593aa) g.17:42427099G>A,c.329G>A,p.R110Q
GRN(NM_002087,granulin,593aa) g.17:42427072G>A,c.302G>A,p.R101Q
GRM8(NM_001127323,glutamate receptor, metabotropic 8,908aa) g.7:126542667A>T,c.1085T>A,p.F362Y
GRM8(NM_001127323,glutamate receptor, metabotropic 8,908aa) g.7:126173902G>C,c.1534C>G,p.P512A
GRM8(NM_001127323,glutamate receptor, metabotropic 8,908aa) g.7:126173880G>A,c.1556C>T,p.P519L
GRM8(NM_001127323,glutamate receptor, metabotropic 8,908aa) g.7:126173808C>T,c.1628G>A,p.G543D
GRM8(NM_001127323,glutamate receptor, metabotropic 8,908aa) g.7:126173772A>C,c.1664T>G,p.L555R
GRM8(NM_001127323,glutamate receptor, metabotropic 8,908aa) g.7:126173703T>A,c.1733A>T,p.E578V
GRM8(NM_001127323,glutamate receptor, metabotropic 8,908aa) g.7:126086363T>C,c.2494A>G,p.M832V
GRM8(NM_001127323,glutamate receptor, metabotropic 8,908aa) g.7:126086158G>A,c.2699C>T,p.P900L
GRM7(NM_181874,glutamate receptor, metabotropic 7,922aa) g.3:7728055C>T,c.2710C>T,p.P904S
GRM7(NM_181874,glutamate receptor, metabotropic 7,922aa) g.3:7620425C>T,c.1832C>T,p.T611I
GRM7(NM_181874,glutamate receptor, metabotropic 7,922aa) g.3:7503321G>A,c.1427G>A,p.R476H
GRM7(NM_181874,glutamate receptor, metabotropic 7,922aa) g.3:7494419C>T,c.1300C>T,p.R434W
GRM7(NM_181874,glutamate receptor, metabotropic 7,922aa) g.3:7494417A>T,c.1298A>T,p.Y433F
GRM7(NM_181874,glutamate receptor, metabotropic 7,922aa) g.3:7456831C>A,c.1155C>A,p.D385E
GRM7(NM_181874,glutamate receptor, metabotropic 7,922aa) g.3:6903297C>T,c.222C>T,p.N74N
GRM6(NM_000843,glutamate receptor, metabotropic 6,877aa) g.5:178421927C>T,c.19G>A,p.A7T
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