Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.94606839G>ACA466099961FBP1c.841C>T (n.841C>T)
c.681C>T (p.Tyr227=)
c.486C>T (p.Tyr162=)
c.429C>T (p.Tyr143=)
c.435C>T (p.Tyr145=)
dbSNP gnomAD v3 gnomAD v4
9g.94606839G>CCA374106656FBP1c.841C>G (n.841C>G)
c.681C>G (p.Tyr227Ter)
c.486C>G (p.Tyr162Ter)
c.429C>G (p.Tyr143Ter)
c.435C>G (p.Tyr145Ter)
9g.94606839G=CA1865226629FBP1c.841C= (n.841C=)
c.681C= (p.Tyr227=)
c.486C= (p.Tyr162=)
c.429C= (p.Tyr143=)
c.435C= (p.Tyr145=)
9g.94606839G>TCA374106658FBP1c.841C>A (n.841C>A)
c.681C>A (p.Tyr227Ter)
c.486C>A (p.Tyr162Ter)
c.429C>A (p.Tyr143Ter)
c.435C>A (p.Tyr145Ter)
9g.94606840T>ACA374106662FBP1c.840A>T (n.840A>T)
c.680A>T (p.Tyr227Phe)
c.485A>T (p.Tyr162Phe)
c.428A>T (p.Tyr143Phe)
c.434A>T (p.Tyr145Phe)
9g.94606840T>CCA374106664FBP1c.840A>G (n.840A>G)
c.680A>G (p.Tyr227Cys)
c.485A>G (p.Tyr162Cys)
c.428A>G (p.Tyr143Cys)
c.434A>G (p.Tyr145Cys)
9g.94606840T>GCA374106660FBP1c.840A>C (n.840A>C)
c.680A>C (p.Tyr227Ser)
c.485A>C (p.Tyr162Ser)
c.428A>C (p.Tyr143Ser)
c.434A>C (p.Tyr145Ser)
9g.94606841A>CCA374106666FBP1c.839T>G (n.839T>G)
c.679T>G (p.Tyr227Asp)
c.484T>G (p.Tyr162Asp)
c.427T>G (p.Tyr143Asp)
c.433T>G (p.Tyr145Asp)
9g.94606841A>GCA374106668FBP1c.839T>C (n.839T>C)
c.679T>C (p.Tyr227His)
c.484T>C (p.Tyr162His)
c.427T>C (p.Tyr143His)
c.433T>C (p.Tyr145His)
9g.94606841A>TCA374106670FBP1c.839T>A (n.839T>A)
c.679T>A (p.Tyr227Asn)
c.484T>A (p.Tyr162Asn)
c.427T>A (p.Tyr143Asn)
c.433T>A (p.Tyr145Asn)
9g.94606842C>ACA374106671FBP1c.838G>T (n.838G>T)
c.678G>T (p.Glu226Asp)
c.483G>T (p.Glu161Asp)
c.426G>T (p.Glu142Asp)
c.432G>T (p.Glu144Asp)
9g.94606842C>GCA374106673FBP1c.838G>C (n.838G>C)
c.678G>C (p.Glu226Asp)
c.483G>C (p.Glu161Asp)
c.426G>C (p.Glu142Asp)
c.432G>C (p.Glu144Asp)
9g.94606842C>TCA466099962FBP1c.838G>A (n.838G>A)
c.678G>A (p.Glu226=)
c.483G>A (p.Glu161=)
c.426G>A (p.Glu142=)
c.432G>A (p.Glu144=)
9g.94606843T>ACA374106678FBP1c.837A>T (n.837A>T)
c.677A>T (p.Glu226Val)
c.482A>T (p.Glu161Val)
c.425A>T (p.Glu142Val)
c.431A>T (p.Glu144Val)
9g.94606843T>CCA5136168FBP1c.837A>G (n.837A>G)
c.677A>G (p.Glu226Gly)
c.482A>G (p.Glu161Gly)
c.425A>G (p.Glu142Gly)
c.431A>G (p.Glu144Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
9g.94606843T>GCA196553525FBP1c.837A>C (n.837A>C)
c.677A>C (p.Glu226Ala)
c.482A>C (p.Glu161Ala)
c.425A>C (p.Glu142Ala)
c.431A>C (p.Glu144Ala)
dbSNP
9g.94606843T=CA1865226630FBP1c.837A= (n.837A=)
c.677A= (p.Glu226=)
c.482A= (p.Glu161=)
c.425A= (p.Glu142=)
c.431A= (p.Glu144=)
9g.94606844C>ACA374106680FBP1c.836G>T (n.836G>T)
c.676G>T (p.Glu226Ter)
c.481G>T (p.Glu161Ter)
c.424G>T (p.Glu142Ter)
c.430G>T (p.Glu144Ter)
gnomAD v4
9g.94606844C>GCA374106681FBP1c.836G>C (n.836G>C)
c.676G>C (p.Glu226Gln)
c.481G>C (p.Glu161Gln)
c.424G>C (p.Glu142Gln)
c.430G>C (p.Glu144Gln)
9g.94606844C>TCA374106682FBP1c.836G>A (n.836G>A)
c.676G>A (p.Glu226Lys)
c.481G>A (p.Glu161Lys)
c.424G>A (p.Glu142Lys)
c.430G>A (p.Glu144Lys)
ClinVar gnomAD v4 COSMIC
9g.94606845A>CCA466099963FBP1c.835T>G (n.835T>G)
c.675T>G (p.Thr225=)
c.480T>G (p.Thr160=)
c.423T>G (p.Thr141=)
c.429T>G (p.Thr143=)
9g.94606845A>GCA466099964FBP1c.835T>C (n.835T>C)
c.675T>C (p.Thr225=)
c.480T>C (p.Thr160=)
c.423T>C (p.Thr141=)
c.429T>C (p.Thr143=)
9g.94606845A>TCA466099965FBP1c.835T>A (n.835T>A)
c.675T>A (p.Thr225=)
c.480T>A (p.Thr160=)
c.423T>A (p.Thr141=)
c.429T>A (p.Thr143=)
9g.94606846G>ACA374106683FBP1c.834C>T (n.834C>T)
c.674C>T (p.Thr225Ile)
c.479C>T (p.Thr160Ile)
c.422C>T (p.Thr141Ile)
c.428C>T (p.Thr143Ile)
9g.94606846G>CCA374106685FBP1c.834C>G (n.834C>G)
c.674C>G (p.Thr225Ser)
c.479C>G (p.Thr160Ser)
c.422C>G (p.Thr141Ser)
c.428C>G (p.Thr143Ser)
9g.94606846G>TCA374106687FBP1c.834C>A (n.834C>A)
c.674C>A (p.Thr225Asn)
c.479C>A (p.Thr160Asn)
c.422C>A (p.Thr141Asn)
c.428C>A (p.Thr143Asn)
9g.94606847T>ACA374106693FBP1c.833A>T (n.833A>T)
c.673A>T (p.Thr225Ser)
c.478A>T (p.Thr160Ser)
c.421A>T (p.Thr141Ser)
c.427A>T (p.Thr143Ser)
9g.94606847T>CCA374106691FBP1c.833A>G (n.833A>G)
c.673A>G (p.Thr225Ala)
c.478A>G (p.Thr160Ala)
c.421A>G (p.Thr141Ala)
c.427A>G (p.Thr143Ala)
9g.94606847T>GCA374106689FBP1c.833A>C (n.833A>C)
c.673A>C (p.Thr225Pro)
c.478A>C (p.Thr160Pro)
c.421A>C (p.Thr141Pro)
c.427A>C (p.Thr143Pro)
9g.94606848G>ACA5136169FBP1c.832C>T (n.832C>T)
c.672C>T (p.Val224=)
c.477C>T (p.Val159=)
c.420C>T (p.Val140=)
c.426C>T (p.Val142=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606848G>CCA466099966FBP1c.832C>G (n.832C>G)
c.672C>G (p.Val224=)
c.477C>G (p.Val159=)
c.420C>G (p.Val140=)
c.426C>G (p.Val142=)
9g.94606848G=CA1865226631FBP1c.832C= (n.832C=)
c.672C= (p.Val224=)
c.477C= (p.Val159=)
c.420C= (p.Val140=)
c.426C= (p.Val142=)
9g.94606848G>TCA466099967FBP1c.832C>A (n.832C>A)
c.672C>A (p.Val224=)
c.477C>A (p.Val159=)
c.420C>A (p.Val140=)
c.426C>A (p.Val142=)
9g.94606849A=CA1865226632FBP1c.831T= (n.831T=)
c.671T= (p.Val224=)
c.476T= (p.Val159=)
c.419T= (p.Val140=)
c.425T= (p.Val142=)
9g.94606849A>CCA374106695FBP1c.831T>G (n.831T>G)
c.671T>G (p.Val224Gly)
c.476T>G (p.Val159Gly)
c.419T>G (p.Val140Gly)
c.425T>G (p.Val142Gly)
9g.94606849A>GCA196553530FBP1c.831T>C (n.831T>C)
c.671T>C (p.Val224Ala)
c.476T>C (p.Val159Ala)
c.419T>C (p.Val140Ala)
c.425T>C (p.Val142Ala)
dbSNP
9g.94606849A>TCA374106697FBP1c.831T>A (n.831T>A)
c.671T>A (p.Val224Asp)
c.476T>A (p.Val159Asp)
c.419T>A (p.Val140Asp)
c.425T>A (p.Val142Asp)
dbSNP
9g.94606850C>ACA374106701FBP1c.830G>T (n.830G>T)
c.670G>T (p.Val224Phe)
c.475G>T (p.Val159Phe)
c.418G>T (p.Val140Phe)
c.424G>T (p.Val142Phe)
9g.94606850C=CA1865226633FBP1c.830G= (n.830G=)
c.670G= (p.Val224=)
c.475G= (p.Val159=)
c.418G= (p.Val140=)
c.424G= (p.Val142=)
9g.94606850C>GCA374106702FBP1c.830G>C (n.830G>C)
c.670G>C (p.Val224Leu)
c.475G>C (p.Val159Leu)
c.418G>C (p.Val140Leu)
c.424G>C (p.Val142Leu)
9g.94606850C>TCA323535FBP1c.830G>A (n.830G>A)
c.670G>A (p.Val224Ile)
c.475G>A (p.Val159Ile)
c.418G>A (p.Val140Ile)
c.424G>A (p.Val142Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606851G>ACA196553536FBP1c.829C>T (n.829C>T)
c.669C>T (p.Ala223=)
c.474C>T (p.Ala158=)
c.417C>T (p.Ala139=)
c.423C>T (p.Ala141=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94606851G>CCA466099969FBP1c.829C>G (n.829C>G)
c.669C>G (p.Ala223=)
c.474C>G (p.Ala158=)
c.417C>G (p.Ala139=)
c.423C>G (p.Ala141=)
9g.94606851G=CA1865226634FBP1c.829C= (n.829C=)
c.669C= (p.Ala223=)
c.474C= (p.Ala158=)
c.417C= (p.Ala139=)
c.423C= (p.Ala141=)
9g.94606851G>TCA466099970FBP1c.829C>A (n.829C>A)
c.669C>A (p.Ala223=)
c.474C>A (p.Ala158=)
c.417C>A (p.Ala139=)
c.423C>A (p.Ala141=)
9g.94606852G>ACA374106704FBP1c.828C>T (n.828C>T)
c.668C>T (p.Ala223Val)
c.473C>T (p.Ala158Val)
c.416C>T (p.Ala139Val)
c.422C>T (p.Ala141Val)
9g.94606852G>CCA374106706FBP1c.828C>G (n.828C>G)
c.668C>G (p.Ala223Gly)
c.473C>G (p.Ala158Gly)
c.416C>G (p.Ala139Gly)
c.422C>G (p.Ala141Gly)
gnomAD v4
9g.94606852G=CA1865226635FBP1c.828C= (n.828C=)
c.668C= (p.Ala223=)
c.473C= (p.Ala158=)
c.416C= (p.Ala139=)
c.422C= (p.Ala141=)
9g.94606852G>TCA320998FBP1c.828C>A (n.828C>A)
c.668C>A (p.Ala223Asp)
c.473C>A (p.Ala158Asp)
c.416C>A (p.Ala139Asp)
c.422C>A (p.Ala141Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606853C>ACA374106709FBP1c.827G>T (n.827G>T)
c.667G>T (p.Ala223Ser)
c.472G>T (p.Ala158Ser)
c.415G>T (p.Ala139Ser)
c.421G>T (p.Ala141Ser)

Number of alleles fetched