Genename Variants
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
This is an excerpt of data-sheet including the published polymorphism sites observed in our studies. For the complete variant lists and potential collaboration, please contact huh@cougarlab.org