| 基因名 | 突变 |
|---|---|
| PLEKHD1(NM_001161498,pleckstrin homology domain containing, family D (with coiled-coil domains) member 1,506aa) | g.14:69969585G>C,c.544G>C,p.E182Q |
| PLEKHD1(NM_001161498,pleckstrin homology domain containing, family D (with coiled-coil domains) member 1,506aa) | g.14:69967297G>A,c.247G>A,p.V83I |
| PLEKHB2(NM_001267062,pleckstrin homology domain containing, family B (evectins) member 2,236aa) | g.2:131897791G>C,c.475G>C,p.V159L |
| PLEKHB2(NM_001267062,pleckstrin homology domain containing, family B (evectins) member 2,236aa) | g.2:131897764G>A,c.448G>A,p.G150S |
| PLEKHB2(NM_001267062,pleckstrin homology domain containing, family B (evectins) member 2,236aa) | g.2:131897763C>G,c.447C>G,p.Y149X |
| PLEKHB2(NM_001267062,pleckstrin homology domain containing, family B (evectins) member 2,236aa) | g.2:131890502G>A,c.361G>A,p.D121N |
| PLEKHB2(NM_001267062,pleckstrin homology domain containing, family B (evectins) member 2,236aa) | g.2:131883458G>T,c.170G>T,p.R57L |
| PLEKHB2(NM_001267062,pleckstrin homology domain containing, family B (evectins) member 2,236aa) | g.2:131878552G>A,c.37+1G>A,p.13Donor |
| PLEKHB1(NM_021200,pleckstrin homology domain containing, family B (evectins) member 1,243aa) | g.11:73366918C>T,c.461C>T,p.S154L |
| PLEKHB1(NM_021200,pleckstrin homology domain containing, family B (evectins) member 1,243aa) | g.11:73364058C>T,c.389C>T,p.P130L |
| PLEKHB1(NM_021200,pleckstrin homology domain containing, family B (evectins) member 1,243aa) | g.11:73362932C>T,c.347C>T,p.A116V |
| PLEKHB1(NM_021200,pleckstrin homology domain containing, family B (evectins) member 1,243aa) | g.11:73362899G>A,c.314G>A,p.R105H |
| PLEKHB1(NM_021200,pleckstrin homology domain containing, family B (evectins) member 1,243aa) | g.11:73361735G>A,c.232G>A,p.G78S |
| PLEKHB1(NM_021200,pleckstrin homology domain containing, family B (evectins) member 1,243aa) | g.11:73361621C>T,c.118C>T,p.R40W |
| PLEKHA8(NM_001197026,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8,519aa) | g.7:30113711G>A,c.1325G>A,p.R442Q |
| PLEKHA8(NM_001197026,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8,519aa) | g.7:30102295A>G,c.1237A>G,p.K413E |
| PLEKHA8(NM_001197026,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8,519aa) | g.7:30100518T>C,c.1058T>C,p.V353A |
| PLEKHA8(NM_001197026,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8,519aa) | g.7:30100511C>G,c.1051C>G,p.P351A |
| PLEKHA8(NM_001197026,pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8,519aa) | g.7:30087463C>G,c.329C>G,p.T110S |
| PLEKHA7(NM_175058,pleckstrin homology domain containing, family A member 7,1121aa) | g.11:17035740A>C,c.95T>G,p.L32R |
| PLEKHA7(NM_175058,pleckstrin homology domain containing, family A member 7,1121aa) | g.11:17035678G>A,c.157C>T,p.R53C |
| PLEKHA7(NM_175058,pleckstrin homology domain containing, family A member 7,1121aa) | g.11:16863259G>C,c.707C>G,p.T236R |
| PLEKHA7(NM_175058,pleckstrin homology domain containing, family A member 7,1121aa) | g.11:16863223G>A,c.743C>T,p.A248V |
| PLEKHA7(NM_175058,pleckstrin homology domain containing, family A member 7,1121aa) | g.11:16863130T>C,c.836A>G,p.Q279R |
| PLEKHA7(NM_175058,pleckstrin homology domain containing, family A member 7,1121aa) | g.11:16848067G>A,c.943C>T,p.R315W |
| PLEKHA7(NM_175058,pleckstrin homology domain containing, family A member 7,1121aa) | g.11:16847988T>A,c.1022A>T,p.E341V |
| PLEKHA7(NM_175058,pleckstrin homology domain containing, family A member 7,1121aa) | g.11:16847973C>T,c.1037G>A,p.R346H |
| PLEKHA7(NM_175058,pleckstrin homology domain containing, family A member 7,1121aa) | g.11:16847944G>A,c.1066C>T,p.R356W |