| 基因名 | 突变 |
|---|---|
| CPNE7(NM_014427,copine VII,633aa) | g.16:89655120G>A,c.1190G>A,p.R397Q |
| CPNE7(NM_014427,copine VII,633aa) | g.16:89649923C>T,c.569C>T,p.T190M |
| CPNE7(NM_014427,copine VII,633aa) | g.16:89649878C>T,c.524C>T,p.A175V |
| CPNE7(NM_014427,copine VII,633aa) | g.16:89645386G>T,c.479G>T,p.G160V |
| CPNE7(NM_014427,copine VII,633aa) | g.16:89645345C>A,c.438C>A,p.H146Q |
| CPNE7(NM_014427,copine VII,633aa) | g.16:89645314_89645316del,c.407_409del,p.136_137del |
| CPNE7(NM_014427,copine VII,633aa) | g.16:89644059C>G,c.287C>G,p.T96R |
| CPNE7(NM_014427,copine VII,633aa) | g.16:89644001T>C,c.229T>C,p.F77L |
| CPNE6(NM_001280558,copine VI (neuronal),612aa) | g.14:24546811T>G,c.1711T>G,p.S571A |
| CPNE6(NM_001280558,copine VI (neuronal),612aa) | g.14:24545458G>A,c.1190G>A,p.R397H |
| CPNE6(NM_001280558,copine VI (neuronal),612aa) | g.14:24543788G>A,c.712G>A,p.E238K |
| CPNE6(NM_001280558,copine VI (neuronal),612aa) | g.14:24543503G>A,c.592G>A,p.V198M |
| CPNE6(NM_001280558,copine VI (neuronal),612aa) | g.14:24542714C>T,c.340C>T,p.R114C |
| CPNE5(NM_020939,copine V,593aa) | g.6:36790872T>C,c.98A>G,p.N33S |
| CPNE5(NM_020939,copine V,593aa) | g.6:36762419C>T,c.412G>A,p.A138T |
| CPNE5(NM_020939,copine V,593aa) | g.6:36762397G>A,c.434C>T,p.T145M |
| CPNE5(NM_020939,copine V,593aa) | g.6:36746725T>C,c.538A>G,p.T180A |
| CPNE5(NM_020939,copine V,593aa) | g.6:36742769C>T,c.706G>A,p.V236M |
| CPNE5(NM_020939,copine V,593aa) | g.6:36716038C>G,c.978G>C,p.Q326H |
| CPNE5(NM_020939,copine V,593aa) | g.6:36712914C>T,c.1342G>A,p.V448M |
| CPNE5(NM_020939,copine V,593aa) | g.6:36710131G>A,c.1696C>T,p.R566C |
| CPNE5(NM_020939,copine V,593aa) | g.6:36710082C>T,c.1745G>A,p.R582H |
| CPNE4(NM_130808,copine IV,557aa) | g.3:131306344G>T,c.764C>A,p.A255E |
| CPNE4(NM_130808,copine IV,557aa) | g.3:131306333T>C,c.775A>G,p.K259E |
| CPNE3(NM_003909,copine III,537aa) | g.8:87570550C>T,c.1526C>T,p.A509V |
| CPNE3(NM_003909,copine III,537aa) | g.8:87570515G>A,c.1492-1G>A,p.498Acceptor |
| CPNE3(NM_003909,copine III,537aa) | g.8:87567193C>T,c.1235C>T,p.T412M |
| CPNE3(NM_003909,copine III,537aa) | g.8:87567183G>A,c.1225G>A,p.A409T |