Genename |
Variants |
ASPRV1(NM_152792,aspartic peptidase, retroviral-like 1,343aa) |
g.2:70188081T>C,c.740A>G,p.N247S |
ASPRV1(NM_152792,aspartic peptidase, retroviral-like 1,343aa) |
g.2:70188042G>A,c.779C>T,p.A260V |
ASPRV1(NM_152792,aspartic peptidase, retroviral-like 1,343aa) |
g.2:70187890G>A,c.931C>T,p.R311C |
ASPRV1(NM_152792,aspartic peptidase, retroviral-like 1,343aa) |
g.2:70187809G>A,c.1012C>T,p.R338W |
ASPN(NM_017680,asporin,380aa) |
g.9:95237155A>G,c.25T>C,p.F9L |
ASPN(NM_017680,asporin,380aa) |
g.9:95237079A>G,c.101T>C,p.M34T |
ASPN(NM_017680,asporin,380aa) |
g.9:95237027A>C,c.153T>G,p.D51E |
ASPN(NM_017680,asporin,380aa) |
g.9:95237025_95237027del,c.153_155del,p.51_52del |
ASPN(NM_017680,asporin,380aa) |
g.9:95237024_95237025insTCA,c.155_156insTGA,p.52ins1aa |
ASPN(NM_017680,asporin,380aa) |
g.9:95228784G>A,c.457C>T,p.R153X |
ASPN(NM_017680,asporin,380aa) |
g.9:95228685T>C,c.556A>G,p.I186V |
ASPN(NM_017680,asporin,380aa) |
g.9:95228663C>T,c.578G>A,p.G193E |
ASPN(NM_017680,asporin,380aa) |
g.9:95222777T>C,c.785A>G,p.K262R |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197112801G>T,c.581C>A,p.A194D |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197112738T>G,c.644A>C,p.E215A |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197112538T>G,c.844A>C,p.N282H |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197112477C>T,c.905G>A,p.C302Y |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197112445T>C,c.937A>G,p.I313V |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197112375G>T,c.1007C>A,p.T336K |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197111931T>C,c.1451A>G,p.N484S |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197111792del,c.1590del,p.530fs |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197111665G>A,c.1717C>T,p.R573W |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197111650C>T,c.1732G>A,p.D578N |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197102681T>A,c.2218A>T,p.I740L |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197102660T>C,c.2239A>G,p.T747A |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197102623C>T,c.2276G>A,p.R759Q |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197102571T>A,c.2328A>T,p.E776D |
ASPM(NM_018136,asp (abnormal spindle) homolog, microcephaly associated (Drosophila),3477aa) |
g.1:197098325C>T,c.2752G>A,p.E918K |