| 基因名 | 突变 |
|---|---|
| PSEN1(NM_000021,presenilin 1,467aa) | g.14:73664812G>C,c.843G>C,p.T281T |
| PSEN1(NM_000021,presenilin 1,467aa) | g.14:73659457A>G,c.654A>G,p.P218P |
| PSEN1(NM_000021,presenilin 1,467aa) | g.14:73637740G>A,c.323G>A,p.R108Q |
| PSEN1(NM_000021,presenilin 1,467aa) | g.14:73637651C>T,c.234C>T,p.G78G |
| PSD(NM_002779,pleckstrin and Sec7 domain containing,1024aa) | g.10:104176653C>T,c.143G>A,p.R48Q |
| PSD(NM_002779,pleckstrin and Sec7 domain containing,1024aa) | g.10:104176471C>T,c.325G>A,p.A109T |
| PSD(NM_002779,pleckstrin and Sec7 domain containing,1024aa) | g.10:104176191C>T,c.605G>A,p.R202H |
| PSD(NM_002779,pleckstrin and Sec7 domain containing,1024aa) | g.10:104173904G>A,c.1175C>T,p.T392M |
| PSD(NM_002779,pleckstrin and Sec7 domain containing,1024aa) | g.10:104173673C>A,c.1406G>T,p.G469V |
| PSD(NM_002779,pleckstrin and Sec7 domain containing,1024aa) | g.10:104173533G>A,c.1546C>T,p.L516F |
| PSD(NM_002779,pleckstrin and Sec7 domain containing,1024aa) | g.10:104172274G>A,c.1612C>T,p.R538W |
| PSD(NM_002779,pleckstrin and Sec7 domain containing,1024aa) | g.10:104164452C>T,c.2588G>A,p.R863H |
| PSD(NM_002779,pleckstrin and Sec7 domain containing,1024aa) | g.10:104163627C>T,c.2816G>A,p.R939Q |
| PSD(NM_002779,pleckstrin and Sec7 domain containing,1024aa) | g.10:104163154G>A,c.2878C>T,p.R960W |
| PSD4(NM_012455,pleckstrin and Sec7 domain containing 4,1056aa) | g.2:113958973G>A,c.3152G>A,p.R1051Q |
| PSD4(NM_012455,pleckstrin and Sec7 domain containing 4,1056aa) | g.2:113958972C>T,c.3151C>T,p.R1051W |
| PSD4(NM_012455,pleckstrin and Sec7 domain containing 4,1056aa) | g.2:113958897G>A,c.3076G>A,p.D1026N |
| PSD4(NM_012455,pleckstrin and Sec7 domain containing 4,1056aa) | g.2:113958844G>C,c.3023G>C,p.R1008P |
| PSD4(NM_012455,pleckstrin and Sec7 domain containing 4,1056aa) | g.2:113958747G>A,c.2926G>A,p.E976K |
| PSD4(NM_012455,pleckstrin and Sec7 domain containing 4,1056aa) | g.2:113950108C>T,c.1780C>T,p.R594C |
| PSD4(NM_012455,pleckstrin and Sec7 domain containing 4,1056aa) | g.2:113943763G>A,c.1559G>A,p.S520N |
| PSD4(NM_012455,pleckstrin and Sec7 domain containing 4,1056aa) | g.2:113943732G>A,c.1528G>A,p.E510K |
| PSD4(NM_012455,pleckstrin and Sec7 domain containing 4,1056aa) | g.2:113943688C>T,c.1484C>T,p.T495M |
| PSD4(NM_012455,pleckstrin and Sec7 domain containing 4,1056aa) | g.2:113943571C>G,c.1367C>G,p.P456R |
| PSD4(NM_012455,pleckstrin and Sec7 domain containing 4,1056aa) | g.2:113943541C>G,c.1337C>G,p.P446R |
| PSD4(NM_012455,pleckstrin and Sec7 domain containing 4,1056aa) | g.2:113941048G>A,c.1015G>A,p.E339K |
| PSD4(NM_012455,pleckstrin and Sec7 domain containing 4,1056aa) | g.2:113941045G>A,c.1012G>A,p.A338T |
| PSD4(NM_012455,pleckstrin and Sec7 domain containing 4,1056aa) | g.2:113940839G>C,c.806G>C,p.G269A |