| 基因名 | 突变 |
|---|---|
| PLEKHO1(NM_016274,pleckstrin homology domain containing, family O member 1,409aa) | g.1:150123132C>G,c.61C>G,p.P21A |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:909381C>T,c.1603C>T,p.R535W |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:909309T>C,c.1531T>C,p.S511P |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:909253C>T,c.1475C>T,p.S492L |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:909238G>C,c.1460G>C,p.R487P |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:909222G>A,c.1444G>A,p.A482T |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:909006C>T,c.1420C>T,p.R474W |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:908944C>T,c.1358C>T,p.S453L |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:908931G>A,c.1345G>A,p.E449K |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:908929C>T,c.1343C>T,p.S448L |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:908917C>A,c.1331C>A,p.P444H |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:908669G>A,c.1256G>A,p.R419H |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:908585G>A,c.1172G>A,p.R391H |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:908389C>T,c.1151C>T,p.P384L |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:908293A>T,c.1055A>T,p.D352V |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:908275G>A,c.1037G>A,p.G346D |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:908269C>T,c.1031C>T,p.S344F |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:907718G>A,c.916G>A,p.G306S |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:907497A>G,c.832A>G,p.K278E |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:906770G>A,c.775G>A,p.G259R |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:906769C>A,c.774C>A,p.D258E |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:906512G>A,c.632G>A,p.R211Q |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:906100C>T,c.446C>T,p.P149L |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:905901G>A,c.331G>A,p.D111N |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:905729C>T,c.256C>T,p.R86W |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:902128C>T,c.128C>T,p.A43V |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:902088G>A,c.88G>A,p.D30N |
| PLEKHN1(NM_032129,pleckstrin homology domain containing, family N member 1,611aa) | g.1:901922G>C,c.11G>C,p.S4T |