Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
9g.94606853C>GCA374106711FBP1c.827G>C (n.827G>C)
c.667G>C (p.Ala223Pro)
c.472G>C (p.Ala158Pro)
c.415G>C (p.Ala139Pro)
c.421G>C (p.Ala141Pro)
9g.94606853C>TCA374106712FBP1c.827G>A (n.827G>A)
c.667G>A (p.Ala223Thr)
c.472G>A (p.Ala158Thr)
c.415G>A (p.Ala139Thr)
c.421G>A (p.Ala141Thr)
 dbSNP
9g.94606854A=CA1865226636FBP1c.826T= (n.826T=)
c.666T= (p.Pro222=)
c.471T= (p.Pro157=)
c.414T= (p.Pro138=)
c.420T= (p.Pro140=)
9g.94606854A>CCA466099972FBP1c.826T>G (n.826T>G)
c.666T>G (p.Pro222=)
c.471T>G (p.Pro157=)
c.414T>G (p.Pro138=)
c.420T>G (p.Pro140=)
9g.94606854A>GCA466099973FBP1c.826T>C (n.826T>C)
c.666T>C (p.Pro222=)
c.471T>C (p.Pro157=)
c.414T>C (p.Pro138=)
c.420T>C (p.Pro140=)
 gnomAD v4
9g.94606854A>TCA466099974FBP1c.826T>A (n.826T>A)
c.666T>A (p.Pro222=)
c.471T>A (p.Pro157=)
c.414T>A (p.Pro138=)
c.420T>A (p.Pro140=)
 dbSNP gnomAD v2 gnomAD v4
9g.94606855G>ACA374106714FBP1c.825C>T (n.825C>T)
c.665C>T (p.Pro222Leu)
c.470C>T (p.Pro157Leu)
c.413C>T (p.Pro138Leu)
c.419C>T (p.Pro140Leu)
 dbSNP gnomAD v2
9g.94606855G>CCA374106716FBP1c.825C>G (n.825C>G)
c.665C>G (p.Pro222Arg)
c.470C>G (p.Pro157Arg)
c.413C>G (p.Pro138Arg)
c.419C>G (p.Pro140Arg)
9g.94606855G=CA1865226637FBP1c.825C= (n.825C=)
c.665C= (p.Pro222=)
c.470C= (p.Pro157=)
c.413C= (p.Pro138=)
c.419C= (p.Pro140=)
9g.94606855G>TCA374106718FBP1c.825C>A (n.825C>A)
c.665C>A (p.Pro222His)
c.470C>A (p.Pro157His)
c.413C>A (p.Pro138His)
c.419C>A (p.Pro140His)
9g.94606856G>ACA374106724FBP1c.824C>T (n.824C>T)
c.664C>T (p.Pro222Ser)
c.469C>T (p.Pro157Ser)
c.412C>T (p.Pro138Ser)
c.418C>T (p.Pro140Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94606856G>CCA374106722FBP1c.824C>G (n.824C>G)
c.664C>G (p.Pro222Ala)
c.469C>G (p.Pro157Ala)
c.412C>G (p.Pro138Ala)
c.418C>G (p.Pro140Ala)
9g.94606856G=CA1865226638FBP1c.824C= (n.824C=)
c.664C= (p.Pro222=)
c.469C= (p.Pro157=)
c.412C= (p.Pro138=)
c.418C= (p.Pro140=)
9g.94606856G>TCA374106720FBP1c.824C>A (n.824C>A)
c.664C>A (p.Pro222Thr)
c.469C>A (p.Pro157Thr)
c.412C>A (p.Pro138Thr)
c.418C>A (p.Pro140Thr)
9g.94606857G>ACA5136170FBP1c.823C>T (n.823C>T)
c.663C>T (p.Asp221=)
c.468C>T (p.Asp156=)
c.411C>T (p.Asp137=)
c.417C>T (p.Asp139=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.94606857G>CCA374106726FBP1c.823C>G (n.823C>G)
c.663C>G (p.Asp221Glu)
c.468C>G (p.Asp156Glu)
c.411C>G (p.Asp137Glu)
c.417C>G (p.Asp139Glu)
9g.94606857G=CA1865226639FBP1c.823C= (n.823C=)
c.663C= (p.Asp221=)
c.468C= (p.Asp156=)
c.411C= (p.Asp137=)
c.417C= (p.Asp139=)
9g.94606857G>TCA374106727FBP1c.823C>A (n.823C>A)
c.663C>A (p.Asp221Glu)
c.468C>A (p.Asp156Glu)
c.411C>A (p.Asp137Glu)
c.417C>A (p.Asp139Glu)
9g.94606858T>ACA374106729FBP1c.822A>T (n.822A>T)
c.662A>T (p.Asp221Val)
c.467A>T (p.Asp156Val)
c.410A>T (p.Asp137Val)
c.416A>T (p.Asp139Val)
9g.94606858T>CCA374106731FBP1c.822A>G (n.822A>G)
c.662A>G (p.Asp221Gly)
c.467A>G (p.Asp156Gly)
c.410A>G (p.Asp137Gly)
c.416A>G (p.Asp139Gly)
9g.94606858T>GCA5136171FBP1c.822A>C (n.822A>C)
c.662A>C (p.Asp221Ala)
c.467A>C (p.Asp156Ala)
c.410A>C (p.Asp137Ala)
c.416A>C (p.Asp139Ala)
 dbSNP ExAC gnomAD v2
9g.94606858T=CA1865226640FBP1c.822A= (n.822A=)
c.662A= (p.Asp221=)
c.467A= (p.Asp156=)
c.410A= (p.Asp137=)
c.416A= (p.Asp139=)
9g.94606859C>ACA374106734FBP1c.821G>T (n.821G>T)
c.661G>T (p.Asp221Tyr)
c.466G>T (p.Asp156Tyr)
c.409G>T (p.Asp137Tyr)
c.415G>T (p.Asp139Tyr)
9g.94606859C>GCA374106736FBP1c.821G>C (n.821G>C)
c.661G>C (p.Asp221His)
c.466G>C (p.Asp156His)
c.409G>C (p.Asp137His)
c.415G>C (p.Asp139His)
9g.94606859C>TCA374106738FBP1c.821G>A (n.821G>A)
c.661G>A (p.Asp221Asn)
c.466G>A (p.Asp156Asn)
c.409G>A (p.Asp137Asn)
c.415G>A (p.Asp139Asn)
9g.94606860A>CCA374106740FBP1c.820T>G (n.820T>G)
c.660T>G (p.Phe220Leu)
c.465T>G (p.Phe155Leu)
c.408T>G (p.Phe136Leu)
c.414T>G (p.Phe138Leu)
9g.94606860A>GCA466099975FBP1c.820T>C (n.820T>C)
c.660T>C (p.Phe220=)
c.465T>C (p.Phe155=)
c.408T>C (p.Phe136=)
c.414T>C (p.Phe138=)
9g.94606860A>TCA374106741FBP1c.820T>A (n.820T>A)
c.660T>A (p.Phe220Leu)
c.465T>A (p.Phe155Leu)
c.408T>A (p.Phe136Leu)
c.414T>A (p.Phe138Leu)
9g.94606862delCA2695210723FBP1c.820del (n.820del)
c.660del (p.Phe220LeufsTer?)
c.465del (p.Phe155LeufsTer?)
c.408del (p.Phe136LeufsTer?)
c.414del (p.Phe138LeufsTer?)
9g.94606861A>CCA374106746FBP1c.819T>G (n.819T>G)
c.659T>G (p.Phe220Cys)
c.464T>G (p.Phe155Cys)
c.407T>G (p.Phe136Cys)
c.413T>G (p.Phe138Cys)
9g.94606861A>GCA374106747FBP1c.819T>C (n.819T>C)
c.659T>C (p.Phe220Ser)
c.464T>C (p.Phe155Ser)
c.407T>C (p.Phe136Ser)
c.413T>C (p.Phe138Ser)
9g.94606861A>TCA374106744FBP1c.819T>A (n.819T>A)
c.659T>A (p.Phe220Tyr)
c.464T>A (p.Phe155Tyr)
c.407T>A (p.Phe136Tyr)
c.413T>A (p.Phe138Tyr)
9g.94606862A=CA1865226641FBP1c.818T= (n.818T=)
c.658T= (p.Phe220=)
c.463T= (p.Phe155=)
c.406T= (p.Phe136=)
c.412T= (p.Phe138=)
9g.94606862A>CCA374106748FBP1c.818T>G (n.818T>G)
c.658T>G (p.Phe220Val)
c.463T>G (p.Phe155Val)
c.406T>G (p.Phe136Val)
c.412T>G (p.Phe138Val)
 gnomAD v4
9g.94606862A>GCA374106750FBP1c.818T>C (n.818T>C)
c.658T>C (p.Phe220Leu)
c.463T>C (p.Phe155Leu)
c.406T>C (p.Phe136Leu)
c.412T>C (p.Phe138Leu)
 dbSNP gnomAD v2
9g.94606862A>TCA374106752FBP1c.818T>A (n.818T>A)
c.658T>A (p.Phe220Ile)
c.463T>A (p.Phe155Ile)
c.406T>A (p.Phe136Ile)
c.412T>A (p.Phe138Ile)
9g.94606863G>ACA466099983FBP1c.817C>T (n.817C>T)
c.657C>T (p.Asp219=)
c.462C>T (p.Asp154=)
c.405C>T (p.Asp135=)
c.411C>T (p.Asp137=)
9g.94606863G>CCA374106753FBP1c.817C>G (n.817C>G)
c.657C>G (p.Asp219Glu)
c.462C>G (p.Asp154Glu)
c.405C>G (p.Asp135Glu)
c.411C>G (p.Asp137Glu)
9g.94606863G>TCA374106755FBP1c.817C>A (n.817C>A)
c.657C>A (p.Asp219Glu)
c.462C>A (p.Asp154Glu)
c.405C>A (p.Asp135Glu)
c.411C>A (p.Asp137Glu)
9g.94606864T>ACA374106761FBP1c.816A>T (n.816A>T)
c.656A>T (p.Asp219Val)
c.461A>T (p.Asp154Val)
c.404A>T (p.Asp135Val)
c.410A>T (p.Asp137Val)
9g.94606864T>CCA374106757FBP1c.816A>G (n.816A>G)
c.656A>G (p.Asp219Gly)
c.461A>G (p.Asp154Gly)
c.404A>G (p.Asp135Gly)
c.410A>G (p.Asp137Gly)
9g.94606864T>GCA374106759FBP1c.816A>C (n.816A>C)
c.656A>C (p.Asp219Ala)
c.461A>C (p.Asp154Ala)
c.404A>C (p.Asp135Ala)
c.410A>C (p.Asp137Ala)
9g.94606865C>ACA374106764FBP1c.815G>T (n.815G>T)
c.655G>T (p.Asp219Tyr)
c.460G>T (p.Asp154Tyr)
c.403G>T (p.Asp135Tyr)
c.409G>T (p.Asp137Tyr)
9g.94606865C>GCA374106766FBP1c.815G>C (n.815G>C)
c.655G>C (p.Asp219His)
c.460G>C (p.Asp154His)
c.403G>C (p.Asp135His)
c.409G>C (p.Asp137His)
9g.94606865C>TCA374106768FBP1c.815G>A (n.815G>A)
c.655G>A (p.Asp219Asn)
c.460G>A (p.Asp154Asn)
c.403G>A (p.Asp135Asn)
c.409G>A (p.Asp137Asn)
 gnomAD v4
9g.94606866C>ACA374106769FBP1c.814G>T (n.814G>T)
c.654G>T (p.Arg218Ser)
c.459G>T (p.Arg153Ser)
c.402G>T (p.Arg134Ser)
c.408G>T (p.Arg136Ser)
9g.94606866C>GCA374106770FBP1c.814G>C (n.814G>C)
c.654G>C (p.Arg218Ser)
c.459G>C (p.Arg153Ser)
c.402G>C (p.Arg134Ser)
c.408G>C (p.Arg136Ser)
9g.94606866C>TCA466099987FBP1c.814G>A (n.814G>A)
c.654G>A (p.Arg218=)
c.459G>A (p.Arg153=)
c.402G>A (p.Arg134=)
c.408G>A (p.Arg136=)
9g.94606867C>ACA374106773FBP1c.813G>T (n.813G>T)
c.653G>T (p.Arg218Met)
c.458G>T (p.Arg153Met)
c.401G>T (p.Arg134Met)
c.407G>T (p.Arg136Met)
 dbSNP
9g.94606867C=CA1865226642FBP1c.813G= (n.813G=)
c.653G= (p.Arg218=)
c.458G= (p.Arg153=)
c.401G= (p.Arg134=)
c.407G= (p.Arg136=)
9g.94606867C>GCA374106775FBP1c.813G>C (n.813G>C)
c.653G>C (p.Arg218Thr)
c.458G>C (p.Arg153Thr)
c.401G>C (p.Arg134Thr)
c.407G>C (p.Arg136Thr)
 dbSNP
9g.94606867C>TCA5136172FBP1c.813G>A (n.813G>A)
c.653G>A (p.Arg218Lys)
c.458G>A (p.Arg153Lys)
c.401G>A (p.Arg134Lys)
c.407G>A (p.Arg136Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606867_94606869delinsCTGCA1865226643FBP1c.811_813delinsCAG (n.811_813delinsCAG)
c.651_653delinsCAG (p.Ala217=)
c.456_458delinsCAG (p.Ala152=)
c.399_401delinsCAG (p.Ala133=)
c.405_407delinsCAG (p.Ala135=)
9g.94606867_94606869delinsTTACA196553557FBP1c.811_813delinsTAA (n.811_813delinsTAA)
c.651_653delinsTAA (p.Arg218Lys)
c.456_458delinsTAA (p.Arg153Lys)
c.399_401delinsTAA (p.Arg134Lys)
c.405_407delinsTAA (p.Arg136Lys)
 ClinVar dbSNP
9g.94606868T>ACA374106777FBP1c.812A>T (n.812A>T)
c.652A>T (p.Arg218Trp)
c.457A>T (p.Arg153Trp)
c.400A>T (p.Arg134Trp)
c.406A>T (p.Arg136Trp)
9g.94606868T>CCA374106779FBP1c.812A>G (n.812A>G)
c.652A>G (p.Arg218Gly)
c.457A>G (p.Arg153Gly)
c.400A>G (p.Arg134Gly)
c.406A>G (p.Arg136Gly)
9g.94606868T>GCA466099993FBP1c.812A>C (n.812A>C)
c.652A>C (p.Arg218=)
c.457A>C (p.Arg153=)
c.400A>C (p.Arg134=)
c.406A>C (p.Arg136=)
9g.94606869G>ACA5136173FBP1c.811C>T (n.811C>T)
c.651C>T (p.Ala217=)
c.456C>T (p.Ala152=)
c.399C>T (p.Ala133=)
c.405C>T (p.Ala135=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.94606869G>CCA466099995FBP1c.811C>G (n.811C>G)
c.651C>G (p.Ala217=)
c.456C>G (p.Ala152=)
c.399C>G (p.Ala133=)
c.405C>G (p.Ala135=)
 dbSNP
9g.94606869G=CA1630847869FBP1c.811C= (n.811C=)
c.651C= (p.Ala217=)
c.456C= (p.Ala152=)
c.399C= (p.Ala133=)
c.405C= (p.Ala135=)
9g.94606869G>TCA196553571FBP1c.811C>A (n.811C>A)
c.651C>A (p.Ala217=)
c.456C>A (p.Ala152=)
c.399C>A (p.Ala133=)
c.405C>A (p.Ala135=)
 dbSNP
9g.94606870G>ACA374106782FBP1c.810C>T (n.810C>T)
c.650C>T (p.Ala217Val)
c.455C>T (p.Ala152Val)
c.398C>T (p.Ala133Val)
c.404C>T (p.Ala135Val)
9g.94606870G>CCA374106784FBP1c.810C>G (n.810C>G)
c.650C>G (p.Ala217Gly)
c.455C>G (p.Ala152Gly)
c.398C>G (p.Ala133Gly)
c.404C>G (p.Ala135Gly)
 dbSNP gnomAD v3 gnomAD v4
9g.94606870G=CA1865226644FBP1c.810C= (n.810C=)
c.650C= (p.Ala217=)
c.455C= (p.Ala152=)
c.398C= (p.Ala133=)
c.404C= (p.Ala135=)
9g.94606870G>TCA374106786FBP1c.810C>A (n.810C>A)
c.650C>A (p.Ala217Asp)
c.455C>A (p.Ala152Asp)
c.398C>A (p.Ala133Asp)
c.404C>A (p.Ala135Asp)
9g.94606871C>ACA374106788FBP1c.809G>T (n.809G>T)
c.649G>T (p.Ala217Ser)
c.454G>T (p.Ala152Ser)
c.397G>T (p.Ala133Ser)
c.403G>T (p.Ala135Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94606871C=CA1865226645FBP1c.809G= (n.809G=)
c.649G= (p.Ala217=)
c.454G= (p.Ala152=)
c.397G= (p.Ala133=)
c.403G= (p.Ala135=)
9g.94606871C>GCA374106790FBP1c.809G>C (n.809G>C)
c.649G>C (p.Ala217Pro)
c.454G>C (p.Ala152Pro)
c.397G>C (p.Ala133Pro)
c.403G>C (p.Ala135Pro)
9g.94606871C>TCA5136174FBP1c.809G>A (n.809G>A)
c.649G>A (p.Ala217Thr)
c.454G>A (p.Ala152Thr)
c.397G>A (p.Ala133Thr)
c.403G>A (p.Ala135Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606872G>ACA5136175FBP1c.808C>T (n.808C>T)
c.648C>T (p.Tyr216=)
c.453C>T (p.Tyr151=)
c.396C>T (p.Tyr132=)
c.402C>T (p.Tyr134=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.94606872G>CCA374106794FBP1c.808C>G (n.808C>G)
c.648C>G (p.Tyr216Ter)
c.453C>G (p.Tyr151Ter)
c.396C>G (p.Tyr132Ter)
c.402C>G (p.Tyr134Ter)
9g.94606872G=CA1865226646FBP1c.808C= (n.808C=)
c.648C= (p.Tyr216=)
c.453C= (p.Tyr151=)
c.396C= (p.Tyr132=)
c.402C= (p.Tyr134=)
9g.94606872G>TCA374106796FBP1c.808C>A (n.808C>A)
c.648C>A (p.Tyr216Ter)
c.453C>A (p.Tyr151Ter)
c.396C>A (p.Tyr132Ter)
c.402C>A (p.Tyr134Ter)
9g.94606873T>ACA374106799FBP1c.807A>T (n.807A>T)
c.647A>T (p.Tyr216Phe)
c.452A>T (p.Tyr151Phe)
c.395A>T (p.Tyr132Phe)
c.401A>T (p.Tyr134Phe)
9g.94606873T>CCA374106801FBP1c.807A>G (n.807A>G)
c.647A>G (p.Tyr216Cys)
c.452A>G (p.Tyr151Cys)
c.395A>G (p.Tyr132Cys)
c.401A>G (p.Tyr134Cys)
 dbSNP gnomAD v4 COSMIC
9g.94606873T>GCA374106797FBP1c.807A>C (n.807A>C)
c.647A>C (p.Tyr216Ser)
c.452A>C (p.Tyr151Ser)
c.395A>C (p.Tyr132Ser)
c.401A>C (p.Tyr134Ser)
9g.94606873T=CA1865226647FBP1c.807A= (n.807A=)
c.647A= (p.Tyr216=)
c.452A= (p.Tyr151=)
c.395A= (p.Tyr132=)
c.401A= (p.Tyr134=)
9g.94606874A>CCA374106807FBP1c.806T>G (n.806T>G)
c.646T>G (p.Tyr216Asp)
c.451T>G (p.Tyr151Asp)
c.394T>G (p.Tyr132Asp)
c.400T>G (p.Tyr134Asp)
9g.94606874A>GCA374106803FBP1c.806T>C (n.806T>C)
c.646T>C (p.Tyr216His)
c.451T>C (p.Tyr151His)
c.394T>C (p.Tyr132His)
c.400T>C (p.Tyr134His)
9g.94606874A>TCA374106805FBP1c.806T>A (n.806T>A)
c.646T>A (p.Tyr216Asn)
c.451T>A (p.Tyr151Asn)
c.394T>A (p.Tyr132Asn)
c.400T>A (p.Tyr134Asn)
9g.94606875G>ACA466100007FBP1c.805C>T (n.805C>T)
c.645C>T (p.Gly215=)
c.450C>T (p.Gly150=)
c.393C>T (p.Gly131=)
c.399C>T (p.Gly133=)
 gnomAD v4
9g.94606875G>CCA466100008FBP1c.805C>G (n.805C>G)
c.645C>G (p.Gly215=)
c.450C>G (p.Gly150=)
c.393C>G (p.Gly131=)
c.399C>G (p.Gly133=)
 gnomAD v4
9g.94606875G>TCA466100010FBP1c.805C>A (n.805C>A)
c.645C>A (p.Gly215=)
c.450C>A (p.Gly150=)
c.393C>A (p.Gly131=)
c.399C>A (p.Gly133=)
9g.94606876C>ACA374106809FBP1c.804G>T (n.804G>T)
c.644G>T (p.Gly215Val)
c.449G>T (p.Gly150Val)
c.392G>T (p.Gly131Val)
c.398G>T (p.Gly133Val)
9g.94606876C>GCA374106811FBP1c.804G>C (n.804G>C)
c.644G>C (p.Gly215Ala)
c.449G>C (p.Gly150Ala)
c.392G>C (p.Gly131Ala)
c.398G>C (p.Gly133Ala)
9g.94606876C>TCA374106813FBP1c.804G>A (n.804G>A)
c.644G>A (p.Gly215Asp)
c.449G>A (p.Gly150Asp)
c.392G>A (p.Gly131Asp)
c.398G>A (p.Gly133Asp)
9g.94606877C>ACA374106816FBP1c.803G>T (n.803G>T)
c.643G>T (p.Gly215Cys)
c.448G>T (p.Gly150Cys)
c.391G>T (p.Gly131Cys)
c.397G>T (p.Gly133Cys)
9g.94606877C>GCA374106818FBP1c.803G>C (n.803G>C)
c.643G>C (p.Gly215Arg)
c.448G>C (p.Gly150Arg)
c.391G>C (p.Gly131Arg)
c.397G>C (p.Gly133Arg)
9g.94606877C>TCA374106820FBP1c.803G>A (n.803G>A)
c.643G>A (p.Gly215Ser)
c.448G>A (p.Gly150Ser)
c.391G>A (p.Gly131Ser)
c.397G>A (p.Gly133Ser)
9g.94606878C>ACA374106822FBP1c.802G>T (n.802G>T)
c.642G>T (p.Glu214Asp)
c.447G>T (p.Glu149Asp)
c.390G>T (p.Glu130Asp)
c.396G>T (p.Glu132Asp)
9g.94606878C>GCA374106824FBP1c.802G>C (n.802G>C)
c.642G>C (p.Glu214Asp)
c.447G>C (p.Glu149Asp)
c.390G>C (p.Glu130Asp)
c.396G>C (p.Glu132Asp)
9g.94606878C>TCA466100017FBP1c.802G>A (n.802G>A)
c.642G>A (p.Glu214=)
c.447G>A (p.Glu149=)
c.390G>A (p.Glu130=)
c.396G>A (p.Glu132=)
9g.94606879T>ACA374106826FBP1c.801A>T (n.801A>T)
c.641A>T (p.Glu214Val)
c.446A>T (p.Glu149Val)
c.389A>T (p.Glu130Val)
c.395A>T (p.Glu132Val)
9g.94606879T>CCA374106828FBP1c.801A>G (n.801A>G)
c.641A>G (p.Glu214Gly)
c.446A>G (p.Glu149Gly)
c.389A>G (p.Glu130Gly)
c.395A>G (p.Glu132Gly)
9g.94606879T>GCA374106830FBP1c.801A>C (n.801A>C)
c.641A>C (p.Glu214Ala)
c.446A>C (p.Glu149Ala)
c.389A>C (p.Glu130Ala)
c.395A>C (p.Glu132Ala)
9g.94606880C>ACA374106832FBP1c.800G>T (n.800G>T)
c.640G>T (p.Glu214Ter)
c.445G>T (p.Glu149Ter)
c.388G>T (p.Glu130Ter)
c.394G>T (p.Glu132Ter)
9g.94606880C=CA1865226648FBP1c.800G= (n.800G=)
c.640G= (p.Glu214=)
c.445G= (p.Glu149=)
c.388G= (p.Glu130=)
c.394G= (p.Glu132=)
9g.94606880C>GCA374106836FBP1c.800G>C (n.800G>C)
c.640G>C (p.Glu214Gln)
c.445G>C (p.Glu149Gln)
c.388G>C (p.Glu130Gln)
c.394G>C (p.Glu132Gln)
9g.94606880C>TCA374106834FBP1c.800G>A (n.800G>A)
c.640G>A (p.Glu214Lys)
c.445G>A (p.Glu149Lys)
c.388G>A (p.Glu130Lys)
c.394G>A (p.Glu132Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94606881G>ACA466100024FBP1c.799C>T (n.799C>T)
c.639C>T (p.Asn213=)
c.444C>T (p.Asn148=)
c.387C>T (p.Asn129=)
c.393C>T (p.Asn131=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94606881G>CCA196553595FBP1c.799C>G (n.799C>G)
c.639C>G (p.Asn213Lys)
c.444C>G (p.Asn148Lys)
c.387C>G (p.Asn129Lys)
c.393C>G (p.Asn131Lys)
 dbSNP gnomAD v4
9g.94606881G=CA1865226649FBP1c.799C= (n.799C=)
c.639C= (p.Asn213=)
c.444C= (p.Asn148=)
c.387C= (p.Asn129=)
c.393C= (p.Asn131=)
9g.94606881G>TCA374106838FBP1c.799C>A (n.799C>A)
c.639C>A (p.Asn213Lys)
c.444C>A (p.Asn148Lys)
c.387C>A (p.Asn129Lys)
c.393C>A (p.Asn131Lys)
 ClinVar
9g.94606882T>ACA374106840FBP1c.798A>T (n.798A>T)
c.638A>T (p.Asn213Ile)
c.443A>T (p.Asn148Ile)
c.386A>T (p.Asn129Ile)
c.392A>T (p.Asn131Ile)
9g.94606882T>CCA374106842FBP1c.798A>G (n.798A>G)
c.638A>G (p.Asn213Ser)
c.443A>G (p.Asn148Ser)
c.386A>G (p.Asn129Ser)
c.392A>G (p.Asn131Ser)
 gnomAD v4
9g.94606882T>GCA374106844FBP1c.798A>C (n.798A>C)
c.638A>C (p.Asn213Thr)
c.443A>C (p.Asn148Thr)
c.386A>C (p.Asn129Thr)
c.392A>C (p.Asn131Thr)
9g.94606883T>ACA374106846FBP1c.797A>T (n.797A>T)
c.637A>T (p.Asn213Tyr)
c.442A>T (p.Asn148Tyr)
c.385A>T (p.Asn129Tyr)
c.391A>T (p.Asn131Tyr)
9g.94606883T>CCA374106847FBP1c.797A>G (n.797A>G)
c.637A>G (p.Asn213Asp)
c.442A>G (p.Asn148Asp)
c.385A>G (p.Asn129Asp)
c.391A>G (p.Asn131Asp)
9g.94606883T>GCA374106850FBP1c.797A>C (n.797A>C)
c.637A>C (p.Asn213His)
c.442A>C (p.Asn148His)
c.385A>C (p.Asn129His)
c.391A>C (p.Asn131His)
9g.94606884A=CA1865226650FBP1c.796T= (n.796T=)
c.636T= (p.Leu212=)
c.441T= (p.Leu147=)
c.384T= (p.Leu128=)
c.390T= (p.Leu130=)
9g.94606884A>CCA466100027FBP1c.796T>G (n.796T>G)
c.636T>G (p.Leu212=)
c.441T>G (p.Leu147=)
c.384T>G (p.Leu128=)
c.390T>G (p.Leu130=)
9g.94606884A>GCA466100029FBP1c.796T>C (n.796T>C)
c.636T>C (p.Leu212=)
c.441T>C (p.Leu147=)
c.384T>C (p.Leu128=)
c.390T>C (p.Leu130=)
9g.94606884A>TCA466100031FBP1c.796T>A (n.796T>A)
c.636T>A (p.Leu212=)
c.441T>A (p.Leu147=)
c.384T>A (p.Leu128=)
c.390T>A (p.Leu130=)
 dbSNP gnomAD v2 gnomAD v4
9g.94606885A>CCA374106852FBP1c.795T>G (n.795T>G)
c.635T>G (p.Leu212Arg)
c.440T>G (p.Leu147Arg)
c.383T>G (p.Leu128Arg)
c.389T>G (p.Leu130Arg)
9g.94606885A>GCA374106854FBP1c.795T>C (n.795T>C)
c.635T>C (p.Leu212Pro)
c.440T>C (p.Leu147Pro)
c.383T>C (p.Leu128Pro)
c.389T>C (p.Leu130Pro)
9g.94606885A>TCA374106856FBP1c.795T>A (n.795T>A)
c.635T>A (p.Leu212His)
c.440T>A (p.Leu147His)
c.383T>A (p.Leu128His)
c.389T>A (p.Leu130His)
9g.94606886G>ACA374106860FBP1c.794C>T (n.794C>T)
c.634C>T (p.Leu212Phe)
c.439C>T (p.Leu147Phe)
c.382C>T (p.Leu128Phe)
c.388C>T (p.Leu130Phe)
9g.94606886G>CCA374106862FBP1c.794C>G (n.794C>G)
c.634C>G (p.Leu212Val)
c.439C>G (p.Leu147Val)
c.382C>G (p.Leu128Val)
c.388C>G (p.Leu130Val)
9g.94606886G>TCA374106858FBP1c.794C>A (n.794C>A)
c.634C>A (p.Leu212Ile)
c.439C>A (p.Leu147Ile)
c.382C>A (p.Leu128Ile)
c.388C>A (p.Leu130Ile)
9g.94606887G>ACA466100036FBP1c.793C>T (n.793C>T)
c.633C>T (p.Ser211=)
c.438C>T (p.Ser146=)
c.381C>T (p.Ser127=)
c.387C>T (p.Ser129=)
 ClinVar dbSNP gnomAD v2
9g.94606887G>CCA374106864FBP1c.793C>G (n.793C>G)
c.633C>G (p.Ser211Arg)
c.438C>G (p.Ser146Arg)
c.381C>G (p.Ser127Arg)
c.387C>G (p.Ser129Arg)
9g.94606887G=CA1865226651FBP1c.793C= (n.793C=)
c.633C= (p.Ser211=)
c.438C= (p.Ser146=)
c.381C= (p.Ser127=)
c.387C= (p.Ser129=)
9g.94606887G>TCA374106865FBP1c.793C>A (n.793C>A)
c.633C>A (p.Ser211Arg)
c.438C>A (p.Ser146Arg)
c.381C>A (p.Ser127Arg)
c.387C>A (p.Ser129Arg)
9g.94606888C>ACA374106867FBP1c.792G>T (n.792G>T)
c.632G>T (p.Ser211Ile)
c.437G>T (p.Ser146Ile)
c.380G>T (p.Ser127Ile)
c.386G>T (p.Ser129Ile)
9g.94606888C=CA1865226652FBP1c.792G= (n.792G=)
c.632G= (p.Ser211=)
c.437G= (p.Ser146=)
c.380G= (p.Ser127=)
c.386G= (p.Ser129=)
9g.94606888C>GCA374106869FBP1c.792G>C (n.792G>C)
c.632G>C (p.Ser211Thr)
c.437G>C (p.Ser146Thr)
c.380G>C (p.Ser127Thr)
c.386G>C (p.Ser129Thr)
 gnomAD v4
9g.94606888C>TCA374106871FBP1c.792G>A (n.792G>A)
c.632G>A (p.Ser211Asn)
c.437G>A (p.Ser146Asn)
c.380G>A (p.Ser127Asn)
c.386G>A (p.Ser129Asn)
 dbSNP gnomAD v3 gnomAD v4
9g.94606889T>ACA374106873FBP1c.791A>T (n.791A>T)
c.631A>T (p.Ser211Cys)
c.436A>T (p.Ser146Cys)
c.379A>T (p.Ser127Cys)
c.385A>T (p.Ser129Cys)
9g.94606889T>CCA374106875FBP1c.791A>G (n.791A>G)
c.631A>G (p.Ser211Gly)
c.436A>G (p.Ser146Gly)
c.379A>G (p.Ser127Gly)
c.385A>G (p.Ser129Gly)
9g.94606889T>GCA374106877FBP1c.791A>C (n.791A>C)
c.631A>C (p.Ser211Arg)
c.436A>C (p.Ser146Arg)
c.379A>C (p.Ser127Arg)
c.385A>C (p.Ser129Arg)
9g.94606890G>ACA466100042FBP1c.790C>T (n.790C>T)
c.630C>T (p.Tyr210=)
c.435C>T (p.Tyr145=)
c.378C>T (p.Tyr126=)
c.384C>T (p.Tyr128=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94606890G>CCA374106878FBP1c.790C>G (n.790C>G)
c.630C>G (p.Tyr210Ter)
c.435C>G (p.Tyr145Ter)
c.378C>G (p.Tyr126Ter)
c.384C>G (p.Tyr128Ter)
9g.94606890G=CA1865226653FBP1c.790C= (n.790C=)
c.630C= (p.Tyr210=)
c.435C= (p.Tyr145=)
c.378C= (p.Tyr126=)
c.384C= (p.Tyr128=)
9g.94606890G>TCA374106879FBP1c.790C>A (n.790C>A)
c.630C>A (p.Tyr210Ter)
c.435C>A (p.Tyr145Ter)
c.378C>A (p.Tyr126Ter)
c.384C>A (p.Tyr128Ter)
9g.94606891T>ACA374106881FBP1c.789A>T (n.789A>T)
c.629A>T (p.Tyr210Phe)
c.434A>T (p.Tyr145Phe)
c.377A>T (p.Tyr126Phe)
c.383A>T (p.Tyr128Phe)
9g.94606891T>CCA374106883FBP1c.789A>G (n.789A>G)
c.629A>G (p.Tyr210Cys)
c.434A>G (p.Tyr145Cys)
c.377A>G (p.Tyr126Cys)
c.383A>G (p.Tyr128Cys)
9g.94606891T>GCA374106885FBP1c.789A>C (n.789A>C)
c.629A>C (p.Tyr210Ser)
c.434A>C (p.Tyr145Ser)
c.377A>C (p.Tyr126Ser)
c.383A>C (p.Tyr128Ser)
9g.94606892A>CCA374106889FBP1c.788T>G (n.788T>G)
c.628T>G (p.Tyr210Asp)
c.433T>G (p.Tyr145Asp)
c.376T>G (p.Tyr126Asp)
c.382T>G (p.Tyr128Asp)
9g.94606892A>GCA374106891FBP1c.788T>C (n.788T>C)
c.628T>C (p.Tyr210His)
c.433T>C (p.Tyr145His)
c.376T>C (p.Tyr126His)
c.382T>C (p.Tyr128His)
9g.94606892A>TCA374106887FBP1c.788T>A (n.788T>A)
c.628T>A (p.Tyr210Asn)
c.433T>A (p.Tyr145Asn)
c.376T>A (p.Tyr126Asn)
c.382T>A (p.Tyr128Asn)
9g.94606893G>ACA466100048FBP1c.787C>T (n.787C>T)
c.627C>T (p.Ile209=)
c.432C>T (p.Ile144=)
c.375C>T (p.Ile125=)
c.381C>T (p.Ile127=)
 COSMIC
9g.94606893G>CCA374106893FBP1c.787C>G (n.787C>G)
c.627C>G (p.Ile209Met)
c.432C>G (p.Ile144Met)
c.375C>G (p.Ile125Met)
c.381C>G (p.Ile127Met)
9g.94606893G>TCA466100051FBP1c.787C>A (n.787C>A)
c.627C>A (p.Ile209=)
c.432C>A (p.Ile144=)
c.375C>A (p.Ile125=)
c.381C>A (p.Ile127=)
 COSMIC
9g.94606894A>CCA374106895FBP1c.786T>G (n.786T>G)
c.626T>G (p.Ile209Ser)
c.431T>G (p.Ile144Ser)
c.374T>G (p.Ile125Ser)
c.380T>G (p.Ile127Ser)
9g.94606894A>GCA374106896FBP1c.786T>C (n.786T>C)
c.626T>C (p.Ile209Thr)
c.431T>C (p.Ile144Thr)
c.374T>C (p.Ile125Thr)
c.380T>C (p.Ile127Thr)
9g.94606894A>TCA374106898FBP1c.786T>A (n.786T>A)
c.626T>A (p.Ile209Asn)
c.431T>A (p.Ile144Asn)
c.374T>A (p.Ile125Asn)
c.380T>A (p.Ile127Asn)
9g.94606895T>ACA374106901FBP1c.785A>T (n.785A>T)
c.625A>T (p.Ile209Phe)
c.430A>T (p.Ile144Phe)
c.373A>T (p.Ile125Phe)
c.379A>T (p.Ile127Phe)
9g.94606895T>CCA374106902FBP1c.785A>G (n.785A>G)
c.625A>G (p.Ile209Val)
c.430A>G (p.Ile144Val)
c.373A>G (p.Ile125Val)
c.379A>G (p.Ile127Val)
9g.94606895T>GCA374106904FBP1c.785A>C (n.785A>C)
c.625A>C (p.Ile209Leu)
c.430A>C (p.Ile144Leu)
c.373A>C (p.Ile125Leu)
c.379A>C (p.Ile127Leu)
9g.94606896T>ACA374106906FBP1c.784A>T (n.784A>T)
c.624A>T (p.Lys208Asn)
c.429A>T (p.Lys143Asn)
c.372A>T (p.Lys124Asn)
c.378A>T (p.Lys126Asn)
 gnomAD v4
9g.94606896T>CCA466100057FBP1c.784A>G (n.784A>G)
c.624A>G (p.Lys208=)
c.429A>G (p.Lys143=)
c.372A>G (p.Lys124=)
c.378A>G (p.Lys126=)
9g.94606896T>GCA374106908FBP1c.784A>C (n.784A>C)
c.624A>C (p.Lys208Asn)
c.429A>C (p.Lys143Asn)
c.372A>C (p.Lys124Asn)
c.378A>C (p.Lys126Asn)
9g.94606897T>ACA374106909FBP1c.783A>T (n.783A>T)
c.623A>T (p.Lys208Ile)
c.428A>T (p.Lys143Ile)
c.371A>T (p.Lys124Ile)
c.377A>T (p.Lys126Ile)
9g.94606897T>CCA374106911FBP1c.783A>G (n.783A>G)
c.623A>G (p.Lys208Arg)
c.428A>G (p.Lys143Arg)
c.371A>G (p.Lys124Arg)
c.377A>G (p.Lys126Arg)
9g.94606897T>GCA374106913FBP1c.783A>C (n.783A>C)
c.623A>C (p.Lys208Thr)
c.428A>C (p.Lys143Thr)
c.371A>C (p.Lys124Thr)
c.377A>C (p.Lys126Thr)
9g.94606898T>ACA374106915FBP1c.782A>T (n.782A>T)
c.622A>T (p.Lys208Ter)
c.427A>T (p.Lys143Ter)
c.370A>T (p.Lys124Ter)
c.376A>T (p.Lys126Ter)
9g.94606898T>CCA374106917FBP1c.782A>G (n.782A>G)
c.622A>G (p.Lys208Glu)
c.427A>G (p.Lys143Glu)
c.370A>G (p.Lys124Glu)
c.376A>G (p.Lys126Glu)
9g.94606898T>GCA374106918FBP1c.782A>C (n.782A>C)
c.622A>C (p.Lys208Gln)
c.427A>C (p.Lys143Gln)
c.370A>C (p.Lys124Gln)
c.376A>C (p.Lys126Gln)
9g.94606899A>CCA466100067FBP1c.781T>G (n.781T>G)
c.621T>G (p.Gly207=)
c.426T>G (p.Gly142=)
c.369T>G (p.Gly123=)
c.375T>G (p.Gly125=)
 gnomAD v3 gnomAD v4
9g.94606899A>GCA466100065FBP1c.781T>C (n.781T>C)
c.621T>C (p.Gly207=)
c.426T>C (p.Gly142=)
c.369T>C (p.Gly123=)
c.375T>C (p.Gly125=)
9g.94606899A>TCA466100064FBP1c.781T>A (n.781T>A)
c.621T>A (p.Gly207=)
c.426T>A (p.Gly142=)
c.369T>A (p.Gly123=)
c.375T>A (p.Gly125=)
9g.94606900C>ACA374106922FBP1c.780G>T (n.780G>T)
c.620G>T (p.Gly207Val)
c.425G>T (p.Gly142Val)
c.368G>T (p.Gly123Val)
c.374G>T (p.Gly125Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94606900C=CA1865226654FBP1c.780G= (n.780G=)
c.620G= (p.Gly207=)
c.425G= (p.Gly142=)
c.368G= (p.Gly123=)
c.374G= (p.Gly125=)
9g.94606900C>GCA374106924FBP1c.780G>C (n.780G>C)
c.620G>C (p.Gly207Ala)
c.425G>C (p.Gly142Ala)
c.368G>C (p.Gly123Ala)
c.374G>C (p.Gly125Ala)
9g.94606900C>TCA374106920FBP1c.780G>A (n.780G>A)
c.620G>A (p.Gly207Asp)
c.425G>A (p.Gly142Asp)
c.368G>A (p.Gly123Asp)
c.374G>A (p.Gly125Asp)
9g.94606901C>ACA374106926FBP1c.779G>T (n.779G>T)
c.619G>T (p.Gly207Cys)
c.424G>T (p.Gly142Cys)
c.367G>T (p.Gly123Cys)
c.373G>T (p.Gly125Cys)
9g.94606901C=CA1865226655FBP1c.779G= (n.779G=)
c.619G= (p.Gly207=)
c.424G= (p.Gly142=)
c.367G= (p.Gly123=)
c.373G= (p.Gly125=)
9g.94606901C>GCA5136176FBP1c.779G>C (n.779G>C)
c.619G>C (p.Gly207Arg)
c.424G>C (p.Gly142Arg)
c.367G>C (p.Gly123Arg)
c.373G>C (p.Gly125Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606901C>TCA374106928FBP1c.779G>A (n.779G>A)
c.619G>A (p.Gly207Ser)
c.424G>A (p.Gly142Ser)
c.367G>A (p.Gly123Ser)
c.373G>A (p.Gly125Ser)
9g.94606905_94606908delCA2695210724FBP1c.776_779del (n.776_779del)
c.616_619del (p.Lys206ValfsTer?)
c.421_424del (p.Lys141ValfsTer?)
c.364_367del (p.Lys122ValfsTer?)
c.370_373del (p.Lys124ValfsTer?)
9g.94606902T>ACA374106931FBP1c.778A>T (n.778A>T)
c.618A>T (p.Lys206Asn)
c.423A>T (p.Lys141Asn)
c.366A>T (p.Lys122Asn)
c.372A>T (p.Lys124Asn)
9g.94606902T>CCA466100073FBP1c.778A>G (n.778A>G)
c.618A>G (p.Lys206=)
c.423A>G (p.Lys141=)
c.366A>G (p.Lys122=)
c.372A>G (p.Lys124=)
9g.94606902T>GCA374106932FBP1c.778A>C (n.778A>C)
c.618A>C (p.Lys206Asn)
c.423A>C (p.Lys141Asn)
c.366A>C (p.Lys122Asn)
c.372A>C (p.Lys124Asn)
9g.94606904delCA2579387244FBP1c.778del (n.778del)
c.618del (p.Gly207ValfsTer?)
c.423del (p.Gly142ValfsTer?)
c.366del (p.Gly123ValfsTer?)
c.372del (p.Gly125ValfsTer?)
 gnomAD v4
9g.94606903T>ACA374106933FBP1c.777A>T (n.777A>T)
c.617A>T (p.Lys206Ile)
c.422A>T (p.Lys141Ile)
c.365A>T (p.Lys122Ile)
c.371A>T (p.Lys124Ile)
9g.94606903T>CCA374106937FBP1c.777A>G (n.777A>G)
c.617A>G (p.Lys206Arg)
c.422A>G (p.Lys141Arg)
c.365A>G (p.Lys122Arg)
c.371A>G (p.Lys124Arg)
9g.94606903T>GCA374106935FBP1c.777A>C (n.777A>C)
c.617A>C (p.Lys206Thr)
c.422A>C (p.Lys141Thr)
c.365A>C (p.Lys122Thr)
c.371A>C (p.Lys124Thr)
9g.94606904T>ACA374106939FBP1c.776A>T (n.776A>T)
c.616A>T (p.Lys206Ter)
c.421A>T (p.Lys141Ter)
c.364A>T (p.Lys122Ter)
c.370A>T (p.Lys124Ter)
9g.94606904T>CCA374106940FBP1c.776A>G (n.776A>G)
c.616A>G (p.Lys206Glu)
c.421A>G (p.Lys141Glu)
c.364A>G (p.Lys122Glu)
c.370A>G (p.Lys124Glu)
9g.94606904T>GCA374106942FBP1c.776A>C (n.776A>C)
c.616A>C (p.Lys206Gln)
c.421A>C (p.Lys141Gln)
c.364A>C (p.Lys122Gln)
c.370A>C (p.Lys124Gln)
9g.94606905C>ACA374106944FBP1c.775G>T (n.775G>T)
c.615G>T (p.Lys205Asn)
c.420G>T (p.Lys140Asn)
c.363G>T (p.Lys121Asn)
c.369G>T (p.Lys123Asn)
9g.94606905C>GCA374106945FBP1c.775G>C (n.775G>C)
c.615G>C (p.Lys205Asn)
c.420G>C (p.Lys140Asn)
c.363G>C (p.Lys121Asn)
c.369G>C (p.Lys123Asn)
9g.94606905C>TCA466100081FBP1c.775G>A (n.775G>A)
c.615G>A (p.Lys205=)
c.420G>A (p.Lys140=)
c.363G>A (p.Lys121=)
c.369G>A (p.Lys123=)
9g.94606905_94606909delinsCTTTTCA1865226656FBP1c.771_775delinsAAAAG (n.771_775delinsAAAAG)
c.611_615delinsAAAAG (p.Lys204=)
c.416_420delinsAAAAG (p.Lys139=)
c.359_363delinsAAAAG (p.Lys120=)
c.365_369delinsAAAAG (p.Lys122=)
9g.94606906T>ACA374106947FBP1c.774A>T (n.774A>T)
c.614A>T (p.Lys205Met)
c.419A>T (p.Lys140Met)
c.362A>T (p.Lys121Met)
c.368A>T (p.Lys123Met)
9g.94606906T>CCA374106949FBP1c.774A>G (n.774A>G)
c.614A>G (p.Lys205Arg)
c.419A>G (p.Lys140Arg)
c.362A>G (p.Lys121Arg)
c.368A>G (p.Lys123Arg)
 gnomAD v4
9g.94606906T>GCA374106951FBP1c.774A>C (n.774A>C)
c.614A>C (p.Lys205Thr)
c.419A>C (p.Lys140Thr)
c.362A>C (p.Lys121Thr)
c.368A>C (p.Lys123Thr)
9g.94606911dupCA2690769343FBP1c.774dup (n.774dup)
c.614dup (p.Lys206GlufsTer3)
c.419dup (p.Lys141GlufsTer3)
c.362dup (p.Lys122GlufsTer3)
c.368dup (p.Lys124GlufsTer3)
 gnomAD v4
9g.94606911delCA2690769344FBP1c.774del (n.774del)
c.614del (p.Lys205ArgfsTer?)
c.419del (p.Lys140ArgfsTer?)
c.362del (p.Lys121ArgfsTer?)
c.368del (p.Lys123ArgfsTer?)
 gnomAD v4
9g.94606908_94606911delCA5136177FBP1c.771_774del (n.771_774del)
c.611_614del (p.Lys204ArgfsTer?)
c.416_419del (p.Lys139ArgfsTer?)
c.359_362del (p.Lys120ArgfsTer?)
c.365_368del (p.Lys122ArgfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.94606907T>ACA374106954FBP1c.773A>T (n.773A>T)
c.613A>T (p.Lys205Ter)
c.418A>T (p.Lys140Ter)
c.361A>T (p.Lys121Ter)
c.367A>T (p.Lys123Ter)
9g.94606907T>CCA374106956FBP1c.773A>G (n.773A>G)
c.613A>G (p.Lys205Glu)
c.418A>G (p.Lys140Glu)
c.361A>G (p.Lys121Glu)
c.367A>G (p.Lys123Glu)
9g.94606907T>GCA374106957FBP1c.773A>C (n.773A>C)
c.613A>C (p.Lys205Gln)
c.418A>C (p.Lys140Gln)
c.361A>C (p.Lys121Gln)
c.367A>C (p.Lys123Gln)
9g.94606908T>ACA374106960FBP1c.772A>T (n.772A>T)
c.612A>T (p.Lys204Asn)
c.417A>T (p.Lys139Asn)
c.360A>T (p.Lys120Asn)
c.366A>T (p.Lys122Asn)
9g.94606908T>CCA466100089FBP1c.772A>G (n.772A>G)
c.612A>G (p.Lys204=)
c.417A>G (p.Lys139=)
c.360A>G (p.Lys120=)
c.366A>G (p.Lys122=)
9g.94606908T>GCA374106962FBP1c.772A>C (n.772A>C)
c.612A>C (p.Lys204Asn)
c.417A>C (p.Lys139Asn)
c.360A>C (p.Lys120Asn)
c.366A>C (p.Lys122Asn)
 dbSNP
9g.94606908T=CA1865226657FBP1c.772A= (n.772A=)
c.612A= (p.Lys204=)
c.417A= (p.Lys139=)
c.360A= (p.Lys120=)
c.366A= (p.Lys122=)
9g.94606909T>ACA374106963FBP1c.771A>T (n.771A>T)
c.611A>T (p.Lys204Ile)
c.416A>T (p.Lys139Ile)
c.359A>T (p.Lys120Ile)
c.365A>T (p.Lys122Ile)
9g.94606909T>CCA374106965FBP1c.771A>G (n.771A>G)
c.611A>G (p.Lys204Arg)
c.416A>G (p.Lys139Arg)
c.359A>G (p.Lys120Arg)
c.365A>G (p.Lys122Arg)
9g.94606909T>GCA374106967FBP1c.771A>C (n.771A>C)
c.611A>C (p.Lys204Thr)
c.416A>C (p.Lys139Thr)
c.359A>C (p.Lys120Thr)
c.365A>C (p.Lys122Thr)
9g.94606910T>ACA374106969FBP1c.770A>T (n.770A>T)
c.610A>T (p.Lys204Ter)
c.415A>T (p.Lys139Ter)
c.358A>T (p.Lys120Ter)
c.364A>T (p.Lys122Ter)
 gnomAD v4
9g.94606910T>CCA374106971FBP1c.770A>G (n.770A>G)
c.610A>G (p.Lys204Glu)
c.415A>G (p.Lys139Glu)
c.358A>G (p.Lys120Glu)
c.364A>G (p.Lys122Glu)
9g.94606910T>GCA374106973FBP1c.770A>C (n.770A>C)
c.610A>C (p.Lys204Gln)
c.415A>C (p.Lys139Gln)
c.358A>C (p.Lys120Gln)
c.364A>C (p.Lys122Gln)
9g.94606911T>ACA466100095FBP1c.769A>T (n.769A>T)
c.609A>T (p.Ile203=)
c.414A>T (p.Ile138=)
c.357A>T (p.Ile119=)
c.363A>T (p.Ile121=)
9g.94606911T>CCA374106974FBP1c.769A>G (n.769A>G)
c.609A>G (p.Ile203Met)
c.414A>G (p.Ile138Met)
c.357A>G (p.Ile119Met)
c.363A>G (p.Ile121Met)
 gnomAD v4
9g.94606911T>GCA466100097FBP1c.769A>C (n.769A>C)
c.609A>C (p.Ile203=)
c.414A>C (p.Ile138=)
c.357A>C (p.Ile119=)
c.363A>C (p.Ile121=)
9g.94606912A>CCA374106975FBP1c.768T>G (n.768T>G)
c.608T>G (p.Ile203Arg)
c.413T>G (p.Ile138Arg)
c.356T>G (p.Ile119Arg)
c.362T>G (p.Ile121Arg)
9g.94606912A>GCA374106977FBP1c.768T>C (n.768T>C)
c.608T>C (p.Ile203Thr)
c.413T>C (p.Ile138Thr)
c.356T>C (p.Ile119Thr)
c.362T>C (p.Ile121Thr)
 gnomAD v4
9g.94606912A>TCA374106979FBP1c.768T>A (n.768T>A)
c.608T>A (p.Ile203Lys)
c.413T>A (p.Ile138Lys)
c.356T>A (p.Ile119Lys)
c.362T>A (p.Ile121Lys)
9g.94606913T>ACA374106983FBP1c.767A>T (n.767A>T)
c.607A>T (p.Ile203Leu)
c.412A>T (p.Ile138Leu)
c.355A>T (p.Ile119Leu)
c.361A>T (p.Ile121Leu)
9g.94606913T>CCA374106986FBP1c.767A>G (n.767A>G)
c.607A>G (p.Ile203Val)
c.412A>G (p.Ile138Val)
c.355A>G (p.Ile119Val)
c.361A>G (p.Ile121Val)
9g.94606913T>GCA374106981FBP1c.767A>C (n.767A>C)
c.607A>C (p.Ile203Leu)
c.412A>C (p.Ile138Leu)
c.355A>C (p.Ile119Leu)
c.361A>C (p.Ile121Leu)
9g.94606914C>ACA374106988FBP1c.766G>T (n.766G>T)
c.606G>T (p.Lys202Asn)
c.411G>T (p.Lys137Asn)
c.354G>T (p.Lys118Asn)
c.360G>T (p.Lys120Asn)
9g.94606914C=CA1865226658FBP1c.766G= (n.766G=)
c.606G= (p.Lys202=)
c.411G= (p.Lys137=)
c.354G= (p.Lys118=)
c.360G= (p.Lys120=)
9g.94606914C>GCA374106990FBP1c.766G>C (n.766G>C)
c.606G>C (p.Lys202Asn)
c.411G>C (p.Lys137Asn)
c.354G>C (p.Lys118Asn)
c.360G>C (p.Lys120Asn)
9g.94606914C>TCA5136178FBP1c.766G>A (n.766G>A)
c.606G>A (p.Lys202=)
c.411G>A (p.Lys137=)
c.354G>A (p.Lys118=)
c.360G>A (p.Lys120=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606915T>ACA374106992FBP1c.765A>T (n.765A>T)
c.605A>T (p.Lys202Met)
c.410A>T (p.Lys137Met)
c.353A>T (p.Lys118Met)
c.359A>T (p.Lys120Met)
9g.94606915T>CCA374106994FBP1c.765A>G (n.765A>G)
c.605A>G (p.Lys202Arg)
c.410A>G (p.Lys137Arg)
c.353A>G (p.Lys118Arg)
c.359A>G (p.Lys120Arg)
9g.94606915T>GCA374106995FBP1c.765A>C (n.765A>C)
c.605A>C (p.Lys202Thr)
c.410A>C (p.Lys137Thr)
c.353A>C (p.Lys118Thr)
c.359A>C (p.Lys120Thr)
 dbSNP
9g.94606915T=CA1865226659FBP1c.765A= (n.765A=)
c.605A= (p.Lys202=)
c.410A= (p.Lys137=)
c.353A= (p.Lys118=)
c.359A= (p.Lys120=)
9g.94606916delCA2690769345FBP1c.765del (n.765del)
c.605del (p.Lys202ArgfsTer2)
c.410del (p.Lys137ArgfsTer2)
c.353del (p.Lys118ArgfsTer2)
c.359del (p.Lys120ArgfsTer2)
 gnomAD v4
9g.94606916T>ACA374106998FBP1c.764A>T (n.764A>T)
c.604A>T (p.Lys202Ter)
c.409A>T (p.Lys137Ter)
c.352A>T (p.Lys118Ter)
c.358A>T (p.Lys120Ter)
9g.94606916T>CCA374107000FBP1c.764A>G (n.764A>G)
c.604A>G (p.Lys202Glu)
c.409A>G (p.Lys137Glu)
c.352A>G (p.Lys118Glu)
c.358A>G (p.Lys120Glu)
9g.94606916T>GCA374107001FBP1c.764A>C (n.764A>C)
c.604A>C (p.Lys202Gln)
c.409A>C (p.Lys137Gln)
c.352A>C (p.Lys118Gln)
c.358A>C (p.Lys120Gln)
9g.94606917delCA2695210725FBP1c.763del (n.763del)
c.603del (p.Lys202ArgfsTer2)
c.408del (p.Lys137ArgfsTer2)
c.351del (p.Lys118ArgfsTer2)
c.357del (p.Lys120ArgfsTer2)
9g.94606917C>ACA466100110FBP1c.763G>T (n.763G>T)
c.603G>T (p.Val201=)
c.408G>T (p.Val136=)
c.351G>T (p.Val117=)
c.357G>T (p.Val119=)
9g.94606917C>GCA466100111FBP1c.763G>C (n.763G>C)
c.603G>C (p.Val201=)
c.408G>C (p.Val136=)
c.351G>C (p.Val117=)
c.357G>C (p.Val119=)
9g.94606917C>TCA466100112FBP1c.763G>A (n.763G>A)
c.603G>A (p.Val201=)
c.408G>A (p.Val136=)
c.351G>A (p.Val117=)
c.357G>A (p.Val119=)
9g.94606918A=CA1865226660FBP1c.762T= (n.762T=)
c.602T= (p.Val201=)
c.407T= (p.Val136=)
c.350T= (p.Val117=)
c.356T= (p.Val119=)
9g.94606918A>CCA374107004FBP1c.762T>G (n.762T>G)
c.602T>G (p.Val201Gly)
c.407T>G (p.Val136Gly)
c.350T>G (p.Val117Gly)
c.356T>G (p.Val119Gly)
9g.94606918A>GCA374107005FBP1c.762T>C (n.762T>C)
c.602T>C (p.Val201Ala)
c.407T>C (p.Val136Ala)
c.350T>C (p.Val117Ala)
c.356T>C (p.Val119Ala)
 dbSNP
9g.94606918A>TCA374107007FBP1c.762T>A (n.762T>A)
c.602T>A (p.Val201Glu)
c.407T>A (p.Val136Glu)
c.350T>A (p.Val117Glu)
c.356T>A (p.Val119Glu)
9g.94606919C>ACA374107011FBP1c.761G>T (n.761G>T)
c.601G>T (p.Val201Leu)
c.406G>T (p.Val136Leu)
c.349G>T (p.Val117Leu)
c.355G>T (p.Val119Leu)
9g.94606919C>GCA374107012FBP1c.761G>C (n.761G>C)
c.601G>C (p.Val201Leu)
c.406G>C (p.Val136Leu)
c.349G>C (p.Val117Leu)
c.355G>C (p.Val119Leu)
9g.94606919C>TCA374107009FBP1c.761G>A (n.761G>A)
c.601G>A (p.Val201Met)
c.406G>A (p.Val136Met)
c.349G>A (p.Val117Met)
c.355G>A (p.Val119Met)
9g.94606920A=CA1865226661FBP1c.760T= (n.760T=)
c.600T= (p.Asp200=)
c.405T= (p.Asp135=)
c.348T= (p.Asp116=)
c.354T= (p.Asp118=)
9g.94606920A>CCA196553612FBP1c.760T>G (n.760T>G)
c.600T>G (p.Asp200Glu)
c.405T>G (p.Asp135Glu)
c.348T>G (p.Asp116Glu)
c.354T>G (p.Asp118Glu)
 dbSNP
9g.94606920A>GCA466100118FBP1c.760T>C (n.760T>C)
c.600T>C (p.Asp200=)
c.405T>C (p.Asp135=)
c.348T>C (p.Asp116=)
c.354T>C (p.Asp118=)
9g.94606920A>TCA374107014FBP1c.760T>A (n.760T>A)
c.600T>A (p.Asp200Glu)
c.405T>A (p.Asp135Glu)
c.348T>A (p.Asp116Glu)
c.354T>A (p.Asp118Glu)
9g.94606921T>ACA374107017FBP1c.759A>T (n.759A>T)
c.599A>T (p.Asp200Val)
c.404A>T (p.Asp135Val)
c.347A>T (p.Asp116Val)
c.353A>T (p.Asp118Val)
 gnomAD v4
9g.94606921T>CCA374107018FBP1c.759A>G (n.759A>G)
c.599A>G (p.Asp200Gly)
c.404A>G (p.Asp135Gly)
c.347A>G (p.Asp116Gly)
c.353A>G (p.Asp118Gly)
9g.94606921T>GCA374107020FBP1c.759A>C (n.759A>C)
c.599A>C (p.Asp200Ala)
c.404A>C (p.Asp135Ala)
c.347A>C (p.Asp116Ala)
c.353A>C (p.Asp118Ala)
9g.94606922C>ACA374107025FBP1c.758G>T (n.758G>T)
c.598G>T (p.Asp200Tyr)
c.403G>T (p.Asp135Tyr)
c.346G>T (p.Asp116Tyr)
c.352G>T (p.Asp118Tyr)
 gnomAD v4
9g.94606922C=CA1865226662FBP1c.758G= (n.758G=)
c.598G= (p.Asp200=)
c.403G= (p.Asp135=)
c.346G= (p.Asp116=)
c.352G= (p.Asp118=)
9g.94606922C>GCA374107022FBP1c.758G>C (n.758G>C)
c.598G>C (p.Asp200His)
c.403G>C (p.Asp135His)
c.346G>C (p.Asp116His)
c.352G>C (p.Asp118His)
9g.94606922C>TCA5136179FBP1c.758G>A (n.758G>A)
c.598G>A (p.Asp200Asn)
c.403G>A (p.Asp135Asn)
c.346G>A (p.Asp116Asn)
c.352G>A (p.Asp118Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.94606923C>ACA374107027FBP1c.757G>T (n.757G>T)
c.597G>T (p.Lys199Asn)
c.402G>T (p.Lys134Asn)
c.345G>T (p.Lys115Asn)
c.351G>T (p.Lys117Asn)
9g.94606923C=CA1865226663FBP1c.757G= (n.757G=)
c.597G= (p.Lys199=)
c.402G= (p.Lys134=)
c.345G= (p.Lys115=)
c.351G= (p.Lys117=)
9g.94606923C>GCA374107029FBP1c.757G>C (n.757G>C)
c.597G>C (p.Lys199Asn)
c.402G>C (p.Lys134Asn)
c.345G>C (p.Lys115Asn)
c.351G>C (p.Lys117Asn)
9g.94606923C>TCA466100126FBP1c.757G>A (n.757G>A)
c.597G>A (p.Lys199=)
c.402G>A (p.Lys134=)
c.345G>A (p.Lys115=)
c.351G>A (p.Lys117=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.94606924T>ACA374107032FBP1c.756A>T (n.756A>T)
c.596A>T (p.Lys199Met)
c.401A>T (p.Lys134Met)
c.344A>T (p.Lys115Met)
c.350A>T (p.Lys117Met)
9g.94606924T>CCA374107033FBP1c.756A>G (n.756A>G)
c.596A>G (p.Lys199Arg)
c.401A>G (p.Lys134Arg)
c.344A>G (p.Lys115Arg)
c.350A>G (p.Lys117Arg)
9g.94606924T>GCA374107035FBP1c.756A>C (n.756A>C)
c.596A>C (p.Lys199Thr)
c.401A>C (p.Lys134Thr)
c.344A>C (p.Lys115Thr)
c.350A>C (p.Lys117Thr)
9g.94606925T>ACA374107040FBP1c.755A>T (n.755A>T)
c.595A>T (p.Lys199Ter)
c.400A>T (p.Lys134Ter)
c.343A>T (p.Lys115Ter)
c.349A>T (p.Lys117Ter)
9g.94606925T>CCA374107038FBP1c.755A>G (n.755A>G)
c.595A>G (p.Lys199Glu)
c.400A>G (p.Lys134Glu)
c.343A>G (p.Lys115Glu)
c.349A>G (p.Lys117Glu)
9g.94606925T>GCA374107037FBP1c.755A>C (n.755A>C)
c.595A>C (p.Lys199Gln)
c.400A>C (p.Lys134Gln)
c.343A>C (p.Lys115Gln)
c.349A>C (p.Lys117Gln)
9g.94606926G>ACA466100132FBP1c.754C>T (n.754C>T)
c.594C>T (p.Asp198=)
c.399C>T (p.Asp133=)
c.342C>T (p.Asp114=)
c.348C>T (p.Asp116=)
 dbSNP gnomAD v2 gnomAD v4
9g.94606926G>CCA374107042FBP1c.754C>G (n.754C>G)
c.594C>G (p.Asp198Glu)
c.399C>G (p.Asp133Glu)
c.342C>G (p.Asp114Glu)
c.348C>G (p.Asp116Glu)
9g.94606926G=CA1865226664FBP1c.754C= (n.754C=)
c.594C= (p.Asp198=)
c.399C= (p.Asp133=)
c.342C= (p.Asp114=)
c.348C= (p.Asp116=)
9g.94606926G>TCA374107044FBP1c.754C>A (n.754C>A)
c.594C>A (p.Asp198Glu)
c.399C>A (p.Asp133Glu)
c.342C>A (p.Asp114Glu)
c.348C>A (p.Asp116Glu)
9g.94606927T>ACA374107046FBP1c.753A>T (n.753A>T)
c.593A>T (p.Asp198Val)
c.398A>T (p.Asp133Val)
c.341A>T (p.Asp114Val)
c.347A>T (p.Asp116Val)
9g.94606927T>CCA374107048FBP1c.753A>G (n.753A>G)
c.593A>G (p.Asp198Gly)
c.398A>G (p.Asp133Gly)
c.341A>G (p.Asp114Gly)
c.347A>G (p.Asp116Gly)
9g.94606927T>GCA374107049FBP1c.753A>C (n.753A>C)
c.593A>C (p.Asp198Ala)
c.398A>C (p.Asp133Ala)
c.341A>C (p.Asp114Ala)
c.347A>C (p.Asp116Ala)
9g.94606928C>ACA374107051FBP1c.752G>T (n.752G>T)
c.592G>T (p.Asp198Tyr)
c.397G>T (p.Asp133Tyr)
c.340G>T (p.Asp114Tyr)
c.346G>T (p.Asp116Tyr)
9g.94606928C=CA1865226665FBP1c.752G= (n.752G=)
c.592G= (p.Asp198=)
c.397G= (p.Asp133=)
c.340G= (p.Asp114=)
c.346G= (p.Asp116=)
9g.94606928C>GCA374107053FBP1c.752G>C (n.752G>C)
c.592G>C (p.Asp198His)
c.397G>C (p.Asp133His)
c.340G>C (p.Asp114His)
c.346G>C (p.Asp116His)
9g.94606928C>TCA374107055FBP1c.752G>A (n.752G>A)
c.592G>A (p.Asp198Asn)
c.397G>A (p.Asp133Asn)
c.340G>A (p.Asp114Asn)
c.346G>A (p.Asp116Asn)
 dbSNP gnomAD v2 gnomAD v4
9g.94606929C>ACA466100139FBP1c.751G>T (n.751G>T)
c.591G>T (p.Val197=)
c.396G>T (p.Val132=)
c.339G>T (p.Val113=)
c.345G>T (p.Val115=)
9g.94606929C>GCA466100140FBP1c.751G>C (n.751G>C)
c.591G>C (p.Val197=)
c.396G>C (p.Val132=)
c.339G>C (p.Val113=)
c.345G>C (p.Val115=)
9g.94606929C>TCA466100141FBP1c.751G>A (n.751G>A)
c.591G>A (p.Val197=)
c.396G>A (p.Val132=)
c.339G>A (p.Val113=)
c.345G>A (p.Val115=)
9g.94606930A>CCA374107056FBP1c.750T>G (n.750T>G)
c.590T>G (p.Val197Gly)
c.395T>G (p.Val132Gly)
c.338T>G (p.Val113Gly)
c.344T>G (p.Val115Gly)
9g.94606930A>GCA374107058FBP1c.750T>C (n.750T>C)
c.590T>C (p.Val197Ala)
c.395T>C (p.Val132Ala)
c.338T>C (p.Val113Ala)
c.344T>C (p.Val115Ala)
 COSMIC
9g.94606930A>TCA374107060FBP1c.750T>A (n.750T>A)
c.590T>A (p.Val197Glu)
c.395T>A (p.Val132Glu)
c.338T>A (p.Val113Glu)
c.344T>A (p.Val115Glu)
9g.94606931C>ACA374107062FBP1c.749G>T (n.749G>T)
c.589G>T (p.Val197Leu)
c.394G>T (p.Val132Leu)
c.337G>T (p.Val113Leu)
c.343G>T (p.Val115Leu)
9g.94606931C>GCA374107064FBP1c.749G>C (n.749G>C)
c.589G>C (p.Val197Leu)
c.394G>C (p.Val132Leu)
c.337G>C (p.Val113Leu)
c.343G>C (p.Val115Leu)
9g.94606931C>TCA374107066FBP1c.749G>A (n.749G>A)
c.589G>A (p.Val197Met)
c.394G>A (p.Val132Met)
c.337G>A (p.Val113Met)
c.343G>A (p.Val115Met)
 gnomAD v4
9g.94606932C>ACA374107069FBP1c.748G>T (n.748G>T)
c.588G>T (p.Leu196Phe)
c.393G>T (p.Leu131Phe)
c.336G>T (p.Leu112Phe)
c.342G>T (p.Leu114Phe)
9g.94606932C=CA1865226666FBP1c.748G= (n.748G=)
c.588G= (p.Leu196=)
c.393G= (p.Leu131=)
c.336G= (p.Leu112=)
c.342G= (p.Leu114=)
9g.94606932C>GCA374107067FBP1c.748G>C (n.748G>C)
c.588G>C (p.Leu196Phe)
c.393G>C (p.Leu131Phe)
c.336G>C (p.Leu112Phe)
c.342G>C (p.Leu114Phe)
9g.94606932C>TCA466100147FBP1c.748G>A (n.748G>A)
c.588G>A (p.Leu196=)
c.393G>A (p.Leu131=)
c.336G>A (p.Leu112=)
c.342G>A (p.Leu114=)
 dbSNP
9g.94606933A>CCA374107071FBP1c.747T>G (n.747T>G)
c.587T>G (p.Leu196Trp)
c.392T>G (p.Leu131Trp)
c.335T>G (p.Leu112Trp)
c.341T>G (p.Leu114Trp)
9g.94606933A>GCA374107073FBP1c.747T>C (n.747T>C)
c.587T>C (p.Leu196Ser)
c.392T>C (p.Leu131Ser)
c.335T>C (p.Leu112Ser)
c.341T>C (p.Leu114Ser)
9g.94606933A>TCA374107075FBP1c.747T>A (n.747T>A)
c.587T>A (p.Leu196Ter)
c.392T>A (p.Leu131Ter)
c.335T>A (p.Leu112Ter)
c.341T>A (p.Leu114Ter)
 gnomAD v4
9g.94606936delCA2690769346FBP1c.747del (n.747del)
c.587del (p.Leu196TrpfsTer6)
c.392del (p.Leu131TrpfsTer6)
c.335del (p.Leu112TrpfsTer6)
c.341del (p.Leu114TrpfsTer6)
 gnomAD v4
9g.94606934A=CA1865226667FBP1c.746T= (n.746T=)
c.586T= (p.Leu196=)
c.391T= (p.Leu131=)
c.334T= (p.Leu112=)
c.340T= (p.Leu114=)
9g.94606934A>CCA374107077FBP1c.746T>G (n.746T>G)
c.586T>G (p.Leu196Val)
c.391T>G (p.Leu131Val)
c.334T>G (p.Leu112Val)
c.340T>G (p.Leu114Val)
9g.94606934A>GCA466100151FBP1c.746T>C (n.746T>C)
c.586T>C (p.Leu196=)
c.391T>C (p.Leu131=)
c.334T>C (p.Leu112=)
c.340T>C (p.Leu114=)
 ClinVar dbSNP gnomAD v4
9g.94606934A>TCA374107079FBP1c.746T>A (n.746T>A)
c.586T>A (p.Leu196Met)
c.391T>A (p.Leu131Met)
c.334T>A (p.Leu112Met)
c.340T>A (p.Leu114Met)
 COSMIC
9g.94606935A>CCA374107081FBP1c.745T>G (n.745T>G)
c.585T>G (p.Ile195Met)
c.390T>G (p.Ile130Met)
c.333T>G (p.Ile111Met)
c.339T>G (p.Ile113Met)
9g.94606935A>GCA466100155FBP1c.745T>C (n.745T>C)
c.585T>C (p.Ile195=)
c.390T>C (p.Ile130=)
c.333T>C (p.Ile111=)
c.339T>C (p.Ile113=)
9g.94606935A>TCA466100153FBP1c.745T>A (n.745T>A)
c.585T>A (p.Ile195=)
c.390T>A (p.Ile130=)
c.333T>A (p.Ile111=)
c.339T>A (p.Ile113=)
9g.94606935_94606936insCACACCCAACACCA2785154757FBP1c.744_745insGTGTTGGGTGTG (n.744_745insGTGTTGGGTGTG)
c.584_585insGTGTTGGGTGTG (p.Ile195delinsMetCysTrpValCys)
c.389_390insGTGTTGGGTGTG (p.Ile130delinsMetCysTrpValCys)
c.332_333insGTGTTGGGTGTG (p.Ile111delinsMetCysTrpValCys)
c.338_339insGTGTTGGGTGTG (p.Ile113delinsMetCysTrpValCys)
9g.94606935_94606936insCAACCAAACACACCCAACACCA2785154756FBP1c.744_745insGTGTTGGGTGTGTTTGGTTG (n.744_745insGTGTTGGGTGTGTTTGGTTG)
c.584_585insGTGTTGGGTGTGTTTGGTTG (p.Ile195MetfsTer14)
c.389_390insGTGTTGGGTGTGTTTGGTTG (p.Ile130MetfsTer14)
c.332_333insGTGTTGGGTGTGTTTGGTTG (p.Ile111MetfsTer14)
c.338_339insGTGTTGGGTGTGTTTGGTTG (p.Ile113MetfsTer14)
9g.94606936A>CCA374107082FBP1c.744T>G (n.744T>G)
c.584T>G (p.Ile195Ser)
c.389T>G (p.Ile130Ser)
c.332T>G (p.Ile111Ser)
c.338T>G (p.Ile113Ser)
9g.94606936A>GCA374107084FBP1c.744T>C (n.744T>C)
c.584T>C (p.Ile195Thr)
c.389T>C (p.Ile130Thr)
c.332T>C (p.Ile111Thr)
c.338T>C (p.Ile113Thr)
9g.94606936A>TCA374107085FBP1c.744T>A (n.744T>A)
c.584T>A (p.Ile195Asn)
c.389T>A (p.Ile130Asn)
c.332T>A (p.Ile111Asn)
c.338T>A (p.Ile113Asn)
9g.94606937T>ACA374107088FBP1c.743A>T (n.743A>T)
c.583A>T (p.Ile195Phe)
c.388A>T (p.Ile130Phe)
c.331A>T (p.Ile111Phe)
c.337A>T (p.Ile113Phe)
9g.94606937T>CCA374107090FBP1c.743A>G (n.743A>G)
c.583A>G (p.Ile195Val)
c.388A>G (p.Ile130Val)
c.331A>G (p.Ile111Val)
c.337A>G (p.Ile113Val)
9g.94606937T>GCA374107091FBP1c.743A>C (n.743A>C)
c.583A>C (p.Ile195Leu)
c.388A>C (p.Ile130Leu)
c.331A>C (p.Ile111Leu)
c.337A>C (p.Ile113Leu)
9g.94606938G>ACA466100160FBP1c.742C>T (n.742C>T)
c.582C>T (p.Phe194=)
c.387C>T (p.Phe129=)
c.330C>T (p.Phe110=)
c.336C>T (p.Phe112=)
9g.94606938G>CCA374107095FBP1c.742C>G (n.742C>G)
c.582C>G (p.Phe194Leu)
c.387C>G (p.Phe129Leu)
c.330C>G (p.Phe110Leu)
c.336C>G (p.Phe112Leu)
9g.94606938G>TCA374107093FBP1c.742C>A (n.742C>A)
c.582C>A (p.Phe194Leu)
c.387C>A (p.Phe129Leu)
c.330C>A (p.Phe110Leu)
c.336C>A (p.Phe112Leu)
9g.94606939A=CA1865226668FBP1c.741T= (n.741T=)
c.581T= (p.Phe194=)
c.386T= (p.Phe129=)
c.329T= (p.Phe110=)
c.335T= (p.Phe112=)
9g.94606939A>CCA374107097FBP1c.741T>G (n.741T>G)
c.581T>G (p.Phe194Cys)
c.386T>G (p.Phe129Cys)
c.329T>G (p.Phe110Cys)
c.335T>G (p.Phe112Cys)
9g.94606939A>GCA114590FBP1c.741T>C (n.741T>C)
c.581T>C (p.Phe194Ser)
c.386T>C (p.Phe129Ser)
c.329T>C (p.Phe110Ser)
c.335T>C (p.Phe112Ser)
 ClinVar dbSNP gnomAD v4
9g.94606939A>TCA374107099FBP1c.741T>A (n.741T>A)
c.581T>A (p.Phe194Tyr)
c.386T>A (p.Phe129Tyr)
c.329T>A (p.Phe110Tyr)
c.335T>A (p.Phe112Tyr)
9g.94606940A>CCA374107102FBP1c.740T>G (n.740T>G)
c.580T>G (p.Phe194Val)
c.385T>G (p.Phe129Val)
c.328T>G (p.Phe110Val)
c.334T>G (p.Phe112Val)
9g.94606940A>GCA374107104FBP1c.740T>C (n.740T>C)
c.580T>C (p.Phe194Leu)
c.385T>C (p.Phe129Leu)
c.328T>C (p.Phe110Leu)
c.334T>C (p.Phe112Leu)
9g.94606940A>TCA374107106FBP1c.740T>A (n.740T>A)
c.580T>A (p.Phe194Ile)
c.385T>A (p.Phe129Ile)
c.328T>A (p.Phe110Ile)
c.334T>A (p.Phe112Ile)
9g.94606941C>ACA374107110FBP1c.739G>T (n.739G>T)
c.579G>T (p.Glu193Asp)
c.384G>T (p.Glu128Asp)
c.327G>T (p.Glu109Asp)
c.333G>T (p.Glu111Asp)
9g.94606941C>GCA374107108FBP1c.739G>C (n.739G>C)
c.579G>C (p.Glu193Asp)
c.384G>C (p.Glu128Asp)
c.327G>C (p.Glu109Asp)
c.333G>C (p.Glu111Asp)
9g.94606941C>TCA466100169FBP1c.739G>A (n.739G>A)
c.579G>A (p.Glu193=)
c.384G>A (p.Glu128=)
c.327G>A (p.Glu109=)
c.333G>A (p.Glu111=)
 dbSNP
9g.94606942T>ACA374107112FBP1c.738A>T (n.738A>T)
c.578A>T (p.Glu193Val)
c.383A>T (p.Glu128Val)
c.326A>T (p.Glu109Val)
c.332A>T (p.Glu111Val)
9g.94606942T>CCA374107114FBP1c.738A>G (n.738A>G)
c.578A>G (p.Glu193Gly)
c.383A>G (p.Glu128Gly)
c.326A>G (p.Glu109Gly)
c.332A>G (p.Glu111Gly)
9g.94606942T>GCA374107116FBP1c.738A>C (n.738A>C)
c.578A>C (p.Glu193Ala)
c.383A>C (p.Glu128Ala)
c.326A>C (p.Glu109Ala)
c.332A>C (p.Glu111Ala)
9g.94606942_94606943delinsTCCA1865226669FBP1c.737_738delinsGA (n.737_738delinsGA)
c.577_578delinsGA (p.Glu193=)
c.382_383delinsGA (p.Glu128=)
c.325_326delinsGA (p.Glu109=)
c.331_332delinsGA (p.Glu111=)
9g.94606943C>ACA374107118FBP1c.737G>T (n.737G>T)
c.577G>T (p.Glu193Ter)
c.382G>T (p.Glu128Ter)
c.325G>T (p.Glu109Ter)
c.331G>T (p.Glu111Ter)
 ClinVar dbSNP
9g.94606943C=CA1865226670FBP1c.737G= (n.737G=)
c.577G= (p.Glu193=)
c.382G= (p.Glu128=)
c.325G= (p.Glu109=)
c.331G= (p.Glu111=)
9g.94606943C>GCA374107119FBP1c.737G>C (n.737G>C)
c.577G>C (p.Glu193Gln)
c.382G>C (p.Glu128Gln)
c.325G>C (p.Glu109Gln)
c.331G>C (p.Glu111Gln)
9g.94606943C>TCA374107120FBP1c.737G>A (n.737G>A)
c.577G>A (p.Glu193Lys)
c.382G>A (p.Glu128Lys)
c.325G>A (p.Glu109Lys)
c.331G>A (p.Glu111Lys)
9g.94606946dupCA2695210726FBP1c.737dup (n.737dup)
c.577dup (p.Glu193GlyfsTer16)
c.382dup (p.Glu128GlyfsTer16)
c.325dup (p.Glu109GlyfsTer16)
c.331dup (p.Glu111GlyfsTer16)
9g.94606946delCA589255093FBP1c.737del (n.737del)
c.577del (p.Glu193SerfsTer9)
c.382del (p.Glu128SerfsTer9)
c.325del (p.Glu109SerfsTer9)
c.331del (p.Glu111SerfsTer9)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.94606944C>ACA466100175FBP1c.736G>T (n.736G>T)
c.576G>T (p.Gly192=)
c.381G>T (p.Gly127=)
c.324G>T (p.Gly108=)
c.330G>T (p.Gly110=)
9g.94606944C=CA1865226671FBP1c.736G= (n.736G=)
c.576G= (p.Gly192=)
c.381G= (p.Gly127=)
c.324G= (p.Gly108=)
c.330G= (p.Gly110=)
9g.94606944C>GCA466100176FBP1c.736G>C (n.736G>C)
c.576G>C (p.Gly192=)
c.381G>C (p.Gly127=)
c.324G>C (p.Gly108=)
c.330G>C (p.Gly110=)
9g.94606944C>TCA466100178FBP1c.736G>A (n.736G>A)
c.576G>A (p.Gly192=)
c.381G>A (p.Gly127=)
c.324G>A (p.Gly108=)
c.330G>A (p.Gly110=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.94606945C>ACA374107123FBP1c.735G>T (n.735G>T)
c.575G>T (p.Gly192Val)
c.380G>T (p.Gly127Val)
c.323G>T (p.Gly108Val)
c.329G>T (p.Gly110Val)
9g.94606945C>GCA374107127FBP1c.735G>C (n.735G>C)
c.575G>C (p.Gly192Ala)
c.380G>C (p.Gly127Ala)
c.323G>C (p.Gly108Ala)
c.329G>C (p.Gly110Ala)
9g.94606945C>TCA374107125FBP1c.735G>A (n.735G>A)
c.575G>A (p.Gly192Glu)
c.380G>A (p.Gly127Glu)
c.323G>A (p.Gly108Glu)
c.329G>A (p.Gly110Glu)
9g.94606946C>ACA374107129FBP1c.734G>T (n.734G>T)
c.574G>T (p.Gly192Trp)
c.379G>T (p.Gly127Trp)
c.322G>T (p.Gly108Trp)
c.328G>T (p.Gly110Trp)
9g.94606946C=CA1865226672FBP1c.734G= (n.734G=)
c.574G= (p.Gly192=)
c.379G= (p.Gly127=)
c.322G= (p.Gly108=)
c.328G= (p.Gly110=)
9g.94606946C>GCA374107130FBP1c.734G>C (n.734G>C)
c.574G>C (p.Gly192Arg)
c.379G>C (p.Gly127Arg)
c.322G>C (p.Gly108Arg)
c.328G>C (p.Gly110Arg)
9g.94606946C>TCA5136180FBP1c.734G>A (n.734G>A)
c.574G>A (p.Gly192Arg)
c.379G>A (p.Gly127Arg)
c.322G>A (p.Gly108Arg)
c.328G>A (p.Gly110Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.94606947G>ACA5136181FBP1c.733C>T (n.733C>T)
c.573C>T (p.Ile191=)
c.378C>T (p.Ile126=)
c.321C>T (p.Ile107=)
c.327C>T (p.Ile109=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.94606947G>CCA374107133FBP1c.733C>G (n.733C>G)
c.573C>G (p.Ile191Met)
c.378C>G (p.Ile126Met)
c.321C>G (p.Ile107Met)
c.327C>G (p.Ile109Met)
 gnomAD v4
9g.94606947G=CA1865226673FBP1c.733C= (n.733C=)
c.573C= (p.Ile191=)
c.378C= (p.Ile126=)
c.321C= (p.Ile107=)
c.327C= (p.Ile109=)
9g.94606947G>TCA466100185FBP1c.733C>A (n.733C>A)
c.573C>A (p.Ile191=)
c.378C>A (p.Ile126=)
c.321C>A (p.Ile107=)
c.327C>A (p.Ile109=)
9g.94606948A>CCA374107135FBP1c.732T>G (n.732T>G)
c.572T>G (p.Ile191Ser)
c.377T>G (p.Ile126Ser)
c.320T>G (p.Ile107Ser)
c.326T>G (p.Ile109Ser)
9g.94606948A>GCA374107137FBP1c.732T>C (n.732T>C)
c.572T>C (p.Ile191Thr)
c.377T>C (p.Ile126Thr)
c.320T>C (p.Ile107Thr)
c.326T>C (p.Ile109Thr)
9g.94606948A>TCA374107138FBP1c.732T>A (n.732T>A)
c.572T>A (p.Ile191Asn)
c.377T>A (p.Ile126Asn)
c.320T>A (p.Ile107Asn)
c.326T>A (p.Ile109Asn)

Number of alleles fetched