
| 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 |