| 基因名 | 突变 |
|---|---|
| CHCHD2(NM_016139,coiled-coil-helix-coiled-coil-helix domain containing 2,151aa) | g.7:56174067G>A,c.40C>T,p.P14S |
| CHCHD2(NM_016139,coiled-coil-helix-coiled-coil-helix domain containing 2,151aa) | g.7:56170592T>C,c.413A>G,p.N138S |
| CHCHD1(NM_203298,coiled-coil-helix-coiled-coil-helix domain containing 1,118aa) | g.10:75542104T>G,c.148T>G,p.S50A |
| CHCHD10(NM_213720,coiled-coil-helix-coiled-coil-helix domain containing 10,142aa) | g.22:24109686C>A,c.136G>T,p.A46S |
| CHCHD10(NM_213720,coiled-coil-helix-coiled-coil-helix domain containing 10,142aa) | g.22:24108438G>T,c.286C>A,p.P96T |
| CHCHD10(NM_213720,coiled-coil-helix-coiled-coil-helix domain containing 10,142aa) | g.22:24108318G>A,c.406C>T,p.H136Y |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50873022C>T,c.1823C>T,p.P608L |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50870806G>A,c.1601G>A,p.R534Q |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50863439A>T,c.1430A>T,p.E477V |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50863188G>A,c.1328G>A,p.R443Q |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50857631G>T,c.1106G>T,p.C369F |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50857615A>G,c.1090A>G,p.R364G |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50856652G>A,c.1027G>A,p.V343M |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50856643C>T,c.1018C>T,p.L340F |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50856566G>A,c.941G>A,p.R314Q |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50854637G>A,c.844G>A,p.D282N |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50854574G>C,c.781G>C,p.D261H |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50835684C>T,c.610C>T,p.R204C |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50833676G>A,c.556G>A,p.V186I |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50833652A>G,c.532A>G,p.S178G |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50833520C>T,c.400C>T,p.H134Y |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50830171C>T,c.373C>T,p.L125F |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50830155C>G,c.357C>G,p.S119R |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50828626G>C,c.311G>C,p.R104P |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50827835G>A,c.98G>A,p.R33Q |
| CHAT(NM_001142934,choline O-acetyltransferase,630aa) | g.10:50824619G>A,c.4G>A,p.A2T |
| CHAMP1(NM_032436,chromosome alignment maintaining phosphoprotein 1,812aa) | g.13:115091073G>T,c.1756G>T,p.A586S |
| CHAMP1(NM_032436,chromosome alignment maintaining phosphoprotein 1,812aa) | g.13:115091019C>G,c.1702C>G,p.L568V |