| 基因名 | 突变 |
|---|---|
| PSG11(NM_002785,pregnancy specific beta-1-glycoprotein 11,335aa) | g.19:43529163A>G,c.110T>C,p.M37T |
| PSG11(NM_002785,pregnancy specific beta-1-glycoprotein 11,335aa) | g.19:43529075G>C,c.198C>G,p.I66M |
| PSG11(NM_002785,pregnancy specific beta-1-glycoprotein 11,335aa) | g.19:43529026C>T,c.247G>A,p.V83I |
| PSG11(NM_002785,pregnancy specific beta-1-glycoprotein 11,335aa) | g.19:43528962T>C,c.311A>G,p.N104S |
| PSG11(NM_002785,pregnancy specific beta-1-glycoprotein 11,335aa) | g.19:43528932C>T,c.341G>A,p.R114Q |
| PSG11(NM_002785,pregnancy specific beta-1-glycoprotein 11,335aa) | g.19:43523194G>A,c.437C>T,p.T146I |
| PSG11(NM_002785,pregnancy specific beta-1-glycoprotein 11,335aa) | g.19:43523149G>A,c.482C>T,p.A161V |
| PSG11(NM_002785,pregnancy specific beta-1-glycoprotein 11,335aa) | g.19:43522959A>C,c.672T>G,p.S224R |
| PSG11(NM_002785,pregnancy specific beta-1-glycoprotein 11,335aa) | g.19:43519442T>C,c.790A>G,p.N264D |
| PSG11(NM_002785,pregnancy specific beta-1-glycoprotein 11,335aa) | g.19:43519390A>T,c.842T>A,p.L281Q |
| PSG11(NM_002785,pregnancy specific beta-1-glycoprotein 11,335aa) | g.19:43519270A>G,c.962T>C,p.I321T |
| PSEN2(NM_000447,presenilin 2 (Alzheimer disease 4),448aa) | g.1:227083237G>A,c.1304G>A,p.R435Q |
| PSEN2(NM_000447,presenilin 2 (Alzheimer disease 4),448aa) | g.1:227083236C>T,c.1303C>T,p.R435W |
| PSEN2(NM_000447,presenilin 2 (Alzheimer disease 4),448aa) | g.1:227083222C>T,c.1289C>T,p.T430M |
| PSEN2(NM_000447,presenilin 2 (Alzheimer disease 4),448aa) | g.1:227079466T>G,c.993T>G,p.F331L |
| PSEN2(NM_000447,presenilin 2 (Alzheimer disease 4),448aa) | g.1:227077809C>T,c.861C>T,p.P287P |
| PSEN2(NM_000447,presenilin 2 (Alzheimer disease 4),448aa) | g.1:227076671T>C,c.708T>C,p.S236S |
| PSEN2(NM_000447,presenilin 2 (Alzheimer disease 4),448aa) | g.1:227075813A>G,c.520A>G,p.M174V |
| PSEN2(NM_000447,presenilin 2 (Alzheimer disease 4),448aa) | g.1:227073297G>A,c.415G>A,p.V139M |
| PSEN2(NM_000447,presenilin 2 (Alzheimer disease 4),448aa) | g.1:227071475C>T,c.211C>T,p.R71W |
| PSEN2(NM_000447,presenilin 2 (Alzheimer disease 4),448aa) | g.1:227071449G>A,c.185G>A,p.R62H |
| PSEN2(NM_000447,presenilin 2 (Alzheimer disease 4),448aa) | g.1:227071430G>A,c.166G>A,p.G56S |
| PSEN2(NM_000447,presenilin 2 (Alzheimer disease 4),448aa) | g.1:227071413A>G,c.149A>G,p.Q50R |
| PSEN2(NM_000447,presenilin 2 (Alzheimer disease 4),448aa) | g.1:227069708G>A,c.100G>A,p.G34S |
| PSEN2(NM_000447,presenilin 2 (Alzheimer disease 4),448aa) | g.1:227069657C>T,c.49C>T,p.R17W |
| PSEN2(NM_000447,presenilin 2 (Alzheimer disease 4),448aa) | g.1:227069634G>A,c.26G>A,p.S9N |
| PSEN1(NM_000021,presenilin 1,467aa) | g.14:73673178A>G,c.953A>G,p.E318G |
| PSEN1(NM_000021,presenilin 1,467aa) | g.14:73673157A>G,c.932A>G,p.K311R |