Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.6714387G>ACA505125032C3c.441C>T (p.Val147=)
c.564C>T (p.Val188=)
19g.6714387G>CCA505125033C3c.441C>G (p.Val147=)
c.564C>G (p.Val188=)
19g.6714387G>TCA505125034C3c.441C>A (p.Val147=)
c.564C>A (p.Val188=)
19g.6714388A>CCA403643435C3c.440T>G (p.Val147Gly)
c.563T>G (p.Val188Gly)
19g.6714388A>GCA403643437C3c.440T>C (p.Val147Ala)
c.563T>C (p.Val188Ala)
19g.6714388A>TCA403643438C3c.440T>A (p.Val147Asp)
c.563T>A (p.Val188Asp)
19g.6714389C>ACA304799108C3c.439G>T (p.Val147Phe)
c.562G>T (p.Val188Phe)
 dbSNP gnomAD v3 gnomAD v4
19g.6714389C=CA2320568556C3c.439G= (p.Val147=)
c.562G= (p.Val188=)
19g.6714389C>GCA403643440C3c.439G>C (p.Val147Leu)
c.562G>C (p.Val188Leu)
19g.6714389C>TCA9129776C3c.439G>A (p.Val147Ile)
c.562G>A (p.Val188Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.6714390G>ACA9129777C3c.438C>T (p.Gly146=)
c.561C>T (p.Gly187=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6714390G>CCA505125035C3c.438C>G (p.Gly146=)
c.561C>G (p.Gly187=)
19g.6714390G=CA2320568557C3c.438C= (p.Gly146=)
c.561C= (p.Gly187=)
19g.6714390G>TCA505125036C3c.438C>A (p.Gly146=)
c.561C>A (p.Gly187=)
19g.6714391C>ACA403643446C3c.437G>T (p.Gly146Val)
c.560G>T (p.Gly187Val)
19g.6714391C>GCA403643444C3c.437G>C (p.Gly146Ala)
c.560G>C (p.Gly187Ala)
19g.6714391C>TCA403643445C3c.437G>A (p.Gly146Asp)
c.560G>A (p.Gly187Asp)
19g.6714392C>ACA403643448C3c.436G>T (p.Gly146Cys)
c.559G>T (p.Gly187Cys)
19g.6714392C>GCA403643450C3c.436G>C (p.Gly146Arg)
c.559G>C (p.Gly187Arg)
19g.6714392C>TCA403643451C3c.436G>A (p.Gly146Ser)
c.559G>A (p.Gly187Ser)
19g.6714393A>CCA505125037C3c.435T>G (p.Leu145=)
c.558T>G (p.Leu186=)
19g.6714393A>GCA505125038C3c.435T>C (p.Leu145=)
c.558T>C (p.Leu186=)
19g.6714393A>TCA505125039C3c.435T>A (p.Leu145=)
c.558T>A (p.Leu186=)
19g.6714394A=CA2320568558C3c.434T= (p.Leu145=)
c.557T= (p.Leu186=)
19g.6714394A>CCA403643453C3c.434T>G (p.Leu145Arg)
c.557T>G (p.Leu186Arg)
19g.6714394A>GCA9129778C3c.434T>C (p.Leu145Pro)
c.557T>C (p.Leu186Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.6714394A>TCA403643455C3c.434T>A (p.Leu145His)
c.557T>A (p.Leu186His)
19g.6714395G>ACA403643457C3c.433C>T (p.Leu145Phe)
c.556C>T (p.Leu186Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6714395G>CCA403643458C3c.433C>G (p.Leu145Val)
c.556C>G (p.Leu186Val)
19g.6714395G=CA2320568559C3c.433C= (p.Leu145=)
c.556C= (p.Leu186=)
19g.6714395G>TCA403643460C3c.433C>A (p.Leu145Ile)
c.556C>A (p.Leu186Ile)
19g.6714396C>ACA403643463C3c.432G>T (p.Gln144His)
c.555G>T (p.Gln185His)
19g.6714396C>GCA403643464C3c.432G>C (p.Gln144His)
c.555G>C (p.Gln185His)
 ClinVar
19g.6714396C>TCA505125040C3c.432G>A (p.Gln144=)
c.555G>A (p.Gln185=)
19g.6714397T>ACA403643467C3c.431A>T (p.Gln144Leu)
c.554A>T (p.Gln185Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.6714397T>CCA403643469C3c.431A>G (p.Gln144Arg)
c.554A>G (p.Gln185Arg)
19g.6714397T>GCA403643465C3c.431A>C (p.Gln144Pro)
c.554A>C (p.Gln185Pro)
19g.6714397T=CA2320568560C3c.431A= (p.Gln144=)
c.554A= (p.Gln185=)
19g.6714398G>ACA403643473C3c.430C>T (p.Gln144Ter)
c.553C>T (p.Gln185Ter)
19g.6714398G>CCA403643470C3c.430C>G (p.Gln144Glu)
c.553C>G (p.Gln185Glu)
19g.6714398G>TCA403643472C3c.430C>A (p.Gln144Lys)
c.553C>A (p.Gln185Lys)
19g.6714399G>ACA505125041C3c.429C>T (p.Asn143=)
c.552C>T (p.Asn184=)
19g.6714399G>CCA403643475C3c.429C>G (p.Asn143Lys)
c.552C>G (p.Asn184Lys)
 gnomAD v4
19g.6714399G>TCA403643477C3c.429C>A (p.Asn143Lys)
c.552C>A (p.Asn184Lys)
19g.6714400T>ACA403643479C3c.428A>T (p.Asn143Ile)
c.551A>T (p.Asn184Ile)
19g.6714400T>CCA403643480C3c.428A>G (p.Asn143Ser)
c.551A>G (p.Asn184Ser)
19g.6714400T>GCA403643481C3c.428A>C (p.Asn143Thr)
c.551A>C (p.Asn184Thr)
19g.6714401T>ACA403643483C3c.427A>T (p.Asn143Tyr)
c.550A>T (p.Asn184Tyr)
19g.6714401T>CCA403643484C3c.427A>G (p.Asn143Asp)
c.550A>G (p.Asn184Asp)
19g.6714401T>GCA403643486C3c.427A>C (p.Asn143His)
c.550A>C (p.Asn184His)
19g.6714402C>ACA403643487C3c.426G>T (p.Gln142His)
c.549G>T (p.Gln183His)
19g.6714402C>GCA403643489C3c.426G>C (p.Gln142His)
c.549G>C (p.Gln183His)
19g.6714402C>TCA505125042C3c.426G>A (p.Gln142=)
c.549G>A (p.Gln183=)
19g.6714403T>ACA403643492C3c.425A>T (p.Gln142Leu)
c.548A>T (p.Gln183Leu)
 dbSNP gnomAD v2 gnomAD v4
19g.6714403T>CCA403643493C3c.425A>G (p.Gln142Arg)
c.548A>G (p.Gln183Arg)
19g.6714403T>GCA403643491C3c.425A>C (p.Gln142Pro)
c.548A>C (p.Gln183Pro)
19g.6714403T=CA2320568561C3c.425A= (p.Gln142=)
c.548A= (p.Gln183=)
19g.6714404G>ACA403643495C3c.424C>T (p.Gln142Ter)
c.547C>T (p.Gln183Ter)
19g.6714404G>CCA403643496C3c.424C>G (p.Gln142Glu)
c.547C>G (p.Gln183Glu)
19g.6714404G>TCA403643498C3c.424C>A (p.Gln142Lys)
c.547C>A (p.Gln183Lys)
19g.6714405A=CA2320568562C3c.423T= (p.Ser141=)
c.546T= (p.Ser182=)
19g.6714405A>CCA505125043C3c.423T>G (p.Ser141=)
c.546T>G (p.Ser182=)
19g.6714405A>GCA505125044C3c.423T>C (p.Ser141=)
c.546T>C (p.Ser182=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6714405A>TCA505125045C3c.423T>A (p.Ser141=)
c.546T>A (p.Ser182=)
19g.6714406G>ACA403643500C3c.422C>T (p.Ser141Phe)
c.545C>T (p.Ser182Phe)
19g.6714406G>CCA403643501C3c.422C>G (p.Ser141Cys)
c.545C>G (p.Ser182Cys)
19g.6714406G>TCA403643503C3c.422C>A (p.Ser141Tyr)
c.545C>A (p.Ser182Tyr)
19g.6714407A>CCA403643504C3c.421T>G (p.Ser141Ala)
c.544T>G (p.Ser182Ala)
19g.6714407A>GCA403643508C3c.421T>C (p.Ser141Pro)
c.544T>C (p.Ser182Pro)
19g.6714407A>TCA403643506C3c.421T>A (p.Ser141Thr)
c.544T>A (p.Ser182Thr)
19g.6714408A=CA2320568563C3c.420T= (p.Ser140=)
c.543T= (p.Ser181=)
19g.6714408A>CCA505125046C3c.420T>G (p.Ser140=)
c.543T>G (p.Ser181=)
19g.6714408A>GCA9129779C3c.420T>C (p.Ser140=)
c.543T>C (p.Ser181=)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.6714408A>TCA505125047C3c.420T>A (p.Ser140=)
c.543T>A (p.Ser181=)
19g.6714409G>ACA403643510C3c.419C>T (p.Ser140Phe)
c.542C>T (p.Ser181Phe)
19g.6714409G>CCA403643512C3c.419C>G (p.Ser140Cys)
c.542C>G (p.Ser181Cys)
19g.6714409G>TCA403643514C3c.419C>A (p.Ser140Tyr)
c.542C>A (p.Ser181Tyr)
19g.6714410A>CCA403643518C3c.418T>G (p.Ser140Ala)
c.541T>G (p.Ser181Ala)
19g.6714410A>GCA403643516C3c.418T>C (p.Ser140Pro)
c.541T>C (p.Ser181Pro)
19g.6714410A>TCA403643515C3c.418T>A (p.Ser140Thr)
c.541T>A (p.Ser181Thr)
19g.6714411C>ACA403643520C3c.417G>T (p.Leu139Phe)
c.540G>T (p.Leu180Phe)
19g.6714411C=CA2320568564C3c.417G= (p.Leu139=)
c.540G= (p.Leu180=)
19g.6714411C>GCA403643521C3c.417G>C (p.Leu139Phe)
c.540G>C (p.Leu180Phe)
 gnomAD v4
19g.6714411C>TCA505125048C3c.417G>A (p.Leu139=)
c.540G>A (p.Leu180=)
 dbSNP gnomAD v3 gnomAD v4
19g.6714412A>CCA403643522C3c.416T>G (p.Leu139Trp)
c.539T>G (p.Leu180Trp)
19g.6714412A>GCA403643524C3c.416T>C (p.Leu139Ser)
c.539T>C (p.Leu180Ser)
19g.6714412A>TCA403643525C3c.416T>A (p.Leu139Ter)
c.539T>A (p.Leu180Ter)
19g.6714412_6714414delCA2573332852C3c.414_416del (p.Leu139del)
c.537_539del (p.Leu180del)
19g.6714413A>CCA403643527C3c.415T>G (p.Leu139Val)
c.538T>G (p.Leu180Val)
19g.6714413A>GCA505125049C3c.415T>C (p.Leu139=)
c.538T>C (p.Leu180=)
19g.6714413A>TCA403643528C3c.415T>A (p.Leu139Met)
c.538T>A (p.Leu180Met)
19g.6714414G>ACA505125050C3c.414C>T (p.Ser138=)
c.537C>T (p.Ser179=)
 dbSNP
19g.6714414G>CCA505125051C3c.414C>G (p.Ser138=)
c.537C>G (p.Ser179=)
19g.6714414G=CA2320568565C3c.414C= (p.Ser138=)
c.537C= (p.Ser179=)
19g.6714414G>TCA505125052C3c.414C>A (p.Ser138=)
c.537C>A (p.Ser179=)
 gnomAD v4
19g.6714415G>ACA304799139C3c.413C>T (p.Ser138Phe)
c.536C>T (p.Ser179Phe)
 dbSNP
19g.6714415G>CCA403643531C3c.413C>G (p.Ser138Cys)
c.536C>G (p.Ser179Cys)
19g.6714415G=CA2320568566C3c.413C= (p.Ser138=)
c.536C= (p.Ser179=)
19g.6714415G>TCA403643533C3c.413C>A (p.Ser138Tyr)
c.536C>A (p.Ser179Tyr)
 dbSNP gnomAD v2 gnomAD v4
19g.6714416A>CCA403643535C3c.412T>G (p.Ser138Ala)
c.535T>G (p.Ser179Ala)
19g.6714416A>GCA403643536C3c.412T>C (p.Ser138Pro)
c.535T>C (p.Ser179Pro)
19g.6714416A>TCA403643538C3c.412T>A (p.Ser138Thr)
c.535T>A (p.Ser179Thr)
19g.6714417G>ACA505125053C3c.411C>T (p.Asp137=)
c.534C>T (p.Asp178=)
19g.6714417G>CCA403643541C3c.411C>G (p.Asp137Glu)
c.534C>G (p.Asp178Glu)
19g.6714417G>TCA403643540C3c.411C>A (p.Asp137Glu)
c.534C>A (p.Asp178Glu)
19g.6714418T>ACA403643544C3c.410A>T (p.Asp137Val)
c.533A>T (p.Asp178Val)
19g.6714418T>CCA9129780C3c.410A>G (p.Asp137Gly)
c.533A>G (p.Asp178Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6714418T>GCA403643545C3c.410A>C (p.Asp137Ala)
c.533A>C (p.Asp178Ala)
19g.6714418T=CA2320568567C3c.410A= (p.Asp137=)
c.533A= (p.Asp178=)
19g.6714419C>ACA403643548C3c.409G>T (p.Asp137Tyr)
c.532G>T (p.Asp178Tyr)
19g.6714419C>GCA403643550C3c.409G>C (p.Asp137His)
c.532G>C (p.Asp178His)
19g.6714419C>TCA403643553C3c.409G>A (p.Asp137Asn)
c.532G>A (p.Asp178Asn)
 gnomAD v4 COSMIC
19g.6714420C>ACA403643555C3c.408G>T (p.Gln136His)
c.531G>T (p.Gln177His)
19g.6714420C>GCA403643557C3c.408G>C (p.Gln136His)
c.531G>C (p.Gln177His)
19g.6714420C>TCA505125054C3c.408G>A (p.Gln136=)
c.531G>A (p.Gln177=)
19g.6714421T>ACA403643561C3c.407A>T (p.Gln136Leu)
c.530A>T (p.Gln177Leu)
19g.6714421T>CCA403643563C3c.407A>G (p.Gln136Arg)
c.530A>G (p.Gln177Arg)
19g.6714421T>GCA403643565C3c.407A>C (p.Gln136Pro)
c.530A>C (p.Gln177Pro)
19g.6714422G>ACA403643567C3c.406C>T (p.Gln136Ter)
c.529C>T (p.Gln177Ter)
19g.6714422G>CCA403643569C3c.406C>G (p.Gln136Glu)
c.529C>G (p.Gln177Glu)
19g.6714422G>TCA403643571C3c.406C>A (p.Gln136Lys)
c.529C>A (p.Gln177Lys)
19g.6714423C>ACA403643574C3c.405G>T (p.Lys135Asn)
c.528G>T (p.Lys176Asn)
19g.6714423C>GCA403643576C3c.405G>C (p.Lys135Asn)
c.528G>C (p.Lys176Asn)
19g.6714423C>TCA505125055C3c.405G>A (p.Lys135=)
c.528G>A (p.Lys176=)
 COSMIC
19g.6714424T>ACA403643579C3c.404A>T (p.Lys135Met)
c.527A>T (p.Lys176Met)
19g.6714424T>CCA403643583C3c.404A>G (p.Lys135Arg)
c.527A>G (p.Lys176Arg)
19g.6714424T>GCA403643580C3c.404A>C (p.Lys135Thr)
c.527A>C (p.Lys176Thr)
19g.6714425T>ACA403643585C3c.403A>T (p.Lys135Ter)
c.526A>T (p.Lys176Ter)
19g.6714425T>CCA403643589C3c.403A>G (p.Lys135Glu)
c.526A>G (p.Lys176Glu)
19g.6714425T>GCA403643587C3c.403A>C (p.Lys135Gln)
c.526A>C (p.Lys176Gln)
19g.6714426G>ACA505125056C3c.402C>T (p.Val134=)
c.525C>T (p.Val175=)
19g.6714426G>CCA505125057C3c.402C>G (p.Val134=)
c.525C>G (p.Val175=)
 dbSNP gnomAD v3 gnomAD v4
19g.6714426G=CA2320568568C3c.402C= (p.Val134=)
c.525C= (p.Val175=)
19g.6714426G>TCA505125058C3c.402C>A (p.Val134=)
c.525C>A (p.Val175=)
 gnomAD v4
19g.6714427A=CA2320568569C3c.401T= (p.Val134=)
c.524T= (p.Val175=)
19g.6714427A>CCA403643592C3c.401T>G (p.Val134Gly)
c.524T>G (p.Val175Gly)
19g.6714427A>GCA9129781C3c.401T>C (p.Val134Ala)
c.524T>C (p.Val175Ala)
 dbSNP ExAC gnomAD v4
19g.6714427A>TCA403643595C3c.401T>A (p.Val134Asp)
c.524T>A (p.Val175Asp)
19g.6714428C>ACA9129782C3c.400G>T (p.Val134Phe)
c.523G>T (p.Val175Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6714428C=CA2320568570C3c.400G= (p.Val134=)
c.523G= (p.Val175=)
19g.6714428C>GCA9129783C3c.400G>C (p.Val134Leu)
c.523G>C (p.Val175Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.6714428C>TCA304799151C3c.400G>A (p.Val134Ile)
c.523G>A (p.Val175Ile)
 dbSNP
19g.6714429C>ACA9129785C3c.399G>T (p.Pro133=)
c.522G>T (p.Pro174=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6714429C=CA2320568571C3c.399G= (p.Pro133=)
c.522G= (p.Pro174=)
19g.6714429C>GCA505125059C3c.399G>C (p.Pro133=)
c.522G>C (p.Pro174=)
19g.6714429C>TCA9129784C3c.399G>A (p.Pro133=)
c.522G>A (p.Pro174=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.6714430G>ACA304799177C3c.398C>T (p.Pro133Leu)
c.521C>T (p.Pro174Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6714430G>CCA403643610C3c.398C>G (p.Pro133Arg)
c.521C>G (p.Pro174Arg)
 gnomAD v4
19g.6714430G=CA2320568572C3c.398C= (p.Pro133=)
c.521C= (p.Pro174=)
19g.6714430G>TCA403643607C3c.398C>A (p.Pro133Gln)
c.521C>A (p.Pro174Gln)
19g.6714431G>ACA403643611C3c.397C>T (p.Pro133Ser)
c.520C>T (p.Pro174Ser)
19g.6714431G>CCA403643613C3c.397C>G (p.Pro133Ala)
c.520C>G (p.Pro174Ala)
19g.6714431G>TCA403643616C3c.397C>A (p.Pro133Thr)
c.520C>A (p.Pro174Thr)
19g.6714432G>ACA505125060C3c.396C>T (p.Ile132=)
c.519C>T (p.Ile173=)
19g.6714432G>CCA403643619C3c.396C>G (p.Ile132Met)
c.519C>G (p.Ile173Met)
 gnomAD v4
19g.6714432G>TCA505125061C3c.396C>A (p.Ile132=)
c.519C>A (p.Ile173=)
19g.6714433A>CCA403643623C3c.395T>G (p.Ile132Ser)
c.518T>G (p.Ile173Ser)
19g.6714433A>GCA403643627C3c.395T>C (p.Ile132Thr)
c.518T>C (p.Ile173Thr)
19g.6714433A>TCA403643625C3c.395T>A (p.Ile132Asn)
c.518T>A (p.Ile173Asn)
19g.6714434T>ACA403643630C3c.394A>T (p.Ile132Phe)
c.517A>T (p.Ile173Phe)
19g.6714434T>CCA403643631C3c.394A>G (p.Ile132Val)
c.517A>G (p.Ile173Val)
 gnomAD v4
19g.6714434T>GCA403643637C3c.394A>C (p.Ile132Leu)
c.517A>C (p.Ile173Leu)
19g.6714435G>ACA505125062C3c.393C>T (p.Gly131=)
c.516C>T (p.Gly172=)
19g.6714435G>CCA505125063C3c.393C>G (p.Gly131=)
c.516C>G (p.Gly172=)
19g.6714435G>TCA505125064C3c.393C>A (p.Gly131=)
c.516C>A (p.Gly172=)
19g.6714436C>ACA403643639C3c.392G>T (p.Gly131Val)
c.515G>T (p.Gly172Val)
19g.6714436C=CA2320568573C3c.392G= (p.Gly131=)
c.515G= (p.Gly172=)
19g.6714436C>GCA403643640C3c.392G>C (p.Gly131Ala)
c.515G>C (p.Gly172Ala)
 dbSNP gnomAD v2 gnomAD v4
19g.6714436C>TCA403643649C3c.392G>A (p.Gly131Asp)
c.515G>A (p.Gly172Asp)
19g.6714437C>ACA403643652C3c.391G>T (p.Gly131Cys)
c.514G>T (p.Gly172Cys)
19g.6714437C>GCA403643655C3c.391G>C (p.Gly131Arg)
c.514G>C (p.Gly172Arg)
19g.6714437C>TCA403643658C3c.391G>A (p.Gly131Ser)
c.514G>A (p.Gly172Ser)
 COSMIC
19g.6714438T>ACA403643661C3c.390A>T (p.Glu130Asp)
c.513A>T (p.Glu171Asp)
19g.6714438T>CCA505125065C3c.390A>G (p.Glu130=)
c.513A>G (p.Glu171=)
19g.6714438T>GCA403643662C3c.390A>C (p.Glu130Asp)
c.513A>C (p.Glu171Asp)
19g.6714439T>ACA403643665C3c.389A>T (p.Glu130Val)
c.512A>T (p.Glu171Val)
19g.6714439T>CCA403643669C3c.389A>G (p.Glu130Gly)
c.512A>G (p.Glu171Gly)
 gnomAD v4
19g.6714439T>GCA403643667C3c.389A>C (p.Glu130Ala)
c.512A>C (p.Glu171Ala)
19g.6714440C>ACA403643673C3c.388G>T (p.Glu130Ter)
c.511G>T (p.Glu171Ter)
19g.6714440C>GCA403643675C3c.388G>C (p.Glu130Gln)
c.511G>C (p.Glu171Gln)
19g.6714440C>TCA403643677C3c.388G>A (p.Glu130Lys)
c.511G>A (p.Glu171Lys)
 gnomAD v4
19g.6714441C>ACA505125066C3c.387G>T (p.Pro129=)
c.510G>T (p.Pro170=)
19g.6714441C=CA2320568574C3c.387G= (p.Pro129=)
c.510G= (p.Pro170=)
19g.6714441C>GCA505125067C3c.387G>C (p.Pro129=)
c.510G>C (p.Pro170=)
19g.6714441C>TCA9129786C3c.387G>A (p.Pro129=)
c.510G>A (p.Pro170=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6714442G>ACA9129787C3c.386C>T (p.Pro129Leu)
c.509C>T (p.Pro170Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.6714442G>CCA403643684C3c.386C>G (p.Pro129Arg)
c.509C>G (p.Pro170Arg)
 ClinVar dbSNP
19g.6714442G=CA2320568575C3c.386C= (p.Pro129=)
c.509C= (p.Pro170=)
19g.6714442G>TCA403643687C3c.386C>A (p.Pro129Gln)
c.509C>A (p.Pro170Gln)
19g.6714443G>ACA403643688C3c.385C>T (p.Pro129Ser)
c.508C>T (p.Pro170Ser)
 dbSNP
19g.6714443G>CCA403643690C3c.385C>G (p.Pro129Ala)
c.508C>G (p.Pro170Ala)
19g.6714443G=CA2320568576C3c.385C= (p.Pro129=)
c.508C= (p.Pro170=)
19g.6714443G>TCA403643691C3c.385C>A (p.Pro129Thr)
c.508C>A (p.Pro170Thr)
19g.6714444G>ACA505125068C3c.384C>T (p.Asn128=)
c.507C>T (p.Asn169=)
19g.6714444G>CCA403643694C3c.384C>G (p.Asn128Lys)
c.507C>G (p.Asn169Lys)
19g.6714444G>TCA403643696C3c.384C>A (p.Asn128Lys)
c.507C>A (p.Asn169Lys)
19g.6714445T>ACA403643703C3c.383A>T (p.Asn128Ile)
c.506A>T (p.Asn169Ile)
19g.6714445T>CCA403643699C3c.383A>G (p.Asn128Ser)
c.506A>G (p.Asn169Ser)
 gnomAD v4
19g.6714445T>GCA403643702C3c.383A>C (p.Asn128Thr)
c.506A>C (p.Asn169Thr)
19g.6714446T>ACA403643706C3c.382A>T (p.Asn128Tyr)
c.505A>T (p.Asn169Tyr)
19g.6714446T>CCA403643709C3c.382A>G (p.Asn128Asp)
c.505A>G (p.Asn169Asp)
19g.6714446T>GCA403643712C3c.382A>C (p.Asn128His)
c.505A>C (p.Asn169His)
19g.6714447C>ACA403643714C3c.382-1G>T (n.382-1G>T)
c.505-1G>T (n.505-1G>T)
19g.6714447C>GCA403643715C3c.382-1G>C (n.382-1G>C)
c.505-1G>C (n.505-1G>C)
19g.6714447C>TCA403643716C3c.382-1G>A (n.382-1G>A)
c.505-1G>A (n.505-1G>A)
19g.6714448T>ACA403643720C3c.382-2A>T (n.382-2A>T)
c.505-2A>T (n.505-2A>T)
19g.6714448T>CCA403643722C3c.382-2A>G (n.382-2A>G)
c.505-2A>G (n.505-2A>G)
19g.6714448T>GCA403643725C3c.382-2A>C (n.382-2A>C)
c.505-2A>C (n.505-2A>C)
19g.6714449G>ACA2320568578C3c.382-3C>T (n.382-3C>T)
c.505-3C>T (n.505-3C>T)
 dbSNP
19g.6714449G=CA2320568577C3c.382-3C= (n.382-3C=)
c.505-3C= (n.505-3C=)
19g.6714451G>ACA2320568580C3c.382-5C>T (n.382-5C>T)
c.505-5C>T (n.505-5C>T)
 dbSNP gnomAD v4
19g.6714451G=CA2320568579C3c.382-5C= (n.382-5C=)
c.505-5C= (n.505-5C=)
19g.6714451G>TCA2587878707C3c.382-5C>A (n.382-5C>A)
c.505-5C>A (n.505-5C>A)
 gnomAD v4
19g.6714453G>CCA304799212C3c.382-7C>G (n.382-7C>G)
c.505-7C>G (n.505-7C>G)
 dbSNP gnomAD v3 gnomAD v4
19g.6714453G=CA2320568581C3c.382-7C= (n.382-7C=)
c.505-7C= (n.505-7C=)
19g.6714455G>ACA2587878708C3c.382-9C>T (n.382-9C>T)
c.505-9C>T (n.505-9C>T)
 gnomAD v4
19g.6714456G>TCA2587878709C3c.382-10C>A (n.382-10C>A)
c.505-10C>A (n.505-10C>A)
 gnomAD v4
19g.6714458A=CA2320568582C3c.382-12T= (n.382-12T=)
c.505-12T= (n.505-12T=)
19g.6714458A>CCA2320568583C3c.382-12T>G (n.382-12T>G)
c.505-12T>G (n.505-12T>G)
 dbSNP
19g.6714459G>ACA631722483C3c.382-13C>T (n.382-13C>T)
c.505-13C>T (n.505-13C>T)
 dbSNP gnomAD v2
19g.6714459G=CA2320568584C3c.382-13C= (n.382-13C=)
c.505-13C= (n.505-13C=)
19g.6714459G>TCA2587878710C3c.382-13C>A (n.382-13C>A)
c.505-13C>A (n.505-13C>A)
 gnomAD v4
19g.6714460G>ACA2587878711C3c.382-14C>T (n.382-14C>T)
c.505-14C>T (n.505-14C>T)
 gnomAD v4
19g.6714462G>ACA2576592450C3c.382-16C>T (n.382-16C>T)
c.505-16C>T (n.505-16C>T)
 gnomAD v4
19g.6714463G>ACA2580097047C3c.382-17C>T (n.382-17C>T)
c.505-17C>T (n.505-17C>T)
 ClinVar
19g.6714463G>TCA2587878712C3c.382-17C>A (n.382-17C>A)
c.505-17C>A (n.505-17C>A)
 gnomAD v4
19g.6714464G>ACA2587878713C3c.382-18C>T (n.382-18C>T)
c.505-18C>T (n.505-18C>T)
 gnomAD v4
19g.6714464G>TCA2587878714C3c.382-18C>A (n.382-18C>A)
c.505-18C>A (n.505-18C>A)
 gnomAD v4
19g.6714465A=CA2320568585C3c.382-19T= (n.382-19T=)
c.505-19T= (n.505-19T=)
19g.6714465A>GCA304799214C3c.382-19T>C (n.382-19T>C)
c.505-19T>C (n.505-19T>C)
 dbSNP gnomAD v4
19g.6714465_6714472delinsAAGGATAGCA2320568586C3c.382-26_382-19delinsCTATCCTT (n.382-26_382-19delinsCTATCCTT)
c.505-26_505-19delinsCTATCCTT (n.505-26_505-19delinsCTATCCTT)
19g.6714472_6714478delCA993078392C3c.382-26_382-20del (n.382-26_382-20del)
c.505-26_505-20del (n.505-26_505-20del)
 dbSNP gnomAD v3 gnomAD v4
19g.6714467G>ACA9129788C3c.382-21C>T (n.382-21C>T)
c.505-21C>T (n.505-21C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6714467G>CCA2320568588C3c.382-21C>G (n.382-21C>G)
c.505-21C>G (n.505-21C>G)
 dbSNP gnomAD v4
19g.6714467G=CA2320568587C3c.382-21C= (n.382-21C=)
c.505-21C= (n.505-21C=)
19g.6714467G>TCA2587878715C3c.382-21C>A (n.382-21C>A)
c.505-21C>A (n.505-21C>A)
 gnomAD v4
19g.6714468G>ACA2576592451C3c.382-22C>T (n.382-22C>T)
c.505-22C>T (n.505-22C>T)
19g.6714468G>TCA2587878716C3c.382-22C>A (n.382-22C>A)
c.505-22C>A (n.505-22C>A)
 gnomAD v4
19g.6714470T>CCA9129789C3c.382-24A>G (n.382-24A>G)
c.505-24A>G (n.505-24A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.6714470T=CA2320568589C3c.382-24A= (n.382-24A=)
c.505-24A= (n.505-24A=)
19g.6714472G>ACA9129790C3c.382-26C>T (n.382-26C>T)
c.505-26C>T (n.505-26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6714472G=CA2320568590C3c.382-26C= (n.382-26C=)
c.505-26C= (n.505-26C=)
19g.6714472G>TCA2587878717C3c.382-26C>A (n.382-26C>A)
c.505-26C>A (n.505-26C>A)
 gnomAD v4
19g.6714473A=CA2320568591C3c.382-27T= (n.382-27T=)
c.505-27T= (n.505-27T=)
19g.6714473A>CCA9129791C3c.382-27T>G (n.382-27T>G)
c.505-27T>G (n.505-27T>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.6714473A>GCA2576592452C3c.382-27T>C (n.382-27T>C)
c.505-27T>C (n.505-27T>C)
 gnomAD v4
19g.6714473A>TCA993078399C3c.382-27T>A (n.382-27T>A)
c.505-27T>A (n.505-27T>A)
 dbSNP gnomAD v3 gnomAD v4
19g.6714474G>ACA2587878718C3c.382-28C>T (n.382-28C>T)
c.505-28C>T (n.505-28C>T)
 gnomAD v4
19g.6714474G>TCA2587878719C3c.382-28C>A (n.382-28C>A)
c.505-28C>A (n.505-28C>A)
 gnomAD v4
19g.6714475G>CCA304799263C3c.382-29C>G (n.382-29C>G)
c.505-29C>G (n.505-29C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6714475G=CA2320568592C3c.382-29C= (n.382-29C=)
c.505-29C= (n.505-29C=)
19g.6714476A>TCA2587878720C3c.382-30T>A (n.382-30T>A)
c.505-30T>A (n.505-30T>A)
 gnomAD v4
19g.6714477T>CCA2576592453C3c.382-31A>G (n.382-31A>G)
c.505-31A>G (n.505-31A>G)
 gnomAD v4
19g.6714478A=CA2320568593C3c.382-32T= (n.382-32T=)
c.505-32T= (n.505-32T=)
19g.6714478A>GCA9129792C3c.382-32T>C (n.382-32T>C)
c.505-32T>C (n.505-32T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.6714481G>TCA2587878721C3c.382-35C>A (n.382-35C>A)
c.505-35C>A (n.505-35C>A)
 gnomAD v4
19g.6714482T>ACA631722484C3c.382-36A>T (n.382-36A>T)
c.505-36A>T (n.505-36A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.6714482T=CA2320568594C3c.382-36A= (n.382-36A=)
c.505-36A= (n.505-36A=)
19g.6714483G>CCA2587878722C3c.382-37C>G (n.382-37C>G)
c.505-37C>G (n.505-37C>G)
 gnomAD v4
19g.6714483G>TCA2587878723C3c.382-37C>A (n.382-37C>A)
c.505-37C>A (n.505-37C>A)
 gnomAD v4
19g.6714484G>TCA2587878724C3c.382-38C>A (n.382-38C>A)
c.505-38C>A (n.505-38C>A)
 gnomAD v4
19g.6714485C>TCA2576592454C3c.382-39G>A (n.382-39G>A)
c.505-39G>A (n.505-39G>A)
19g.6714487C>ACA2507928770C3c.382-41G>T (n.382-41G>T)
c.505-41G>T (n.505-41G>T)
19g.6714487C=CA2320568595C3c.382-41G= (n.382-41G=)
c.505-41G= (n.505-41G=)
19g.6714487C>TCA993078410C3c.382-41G>A (n.382-41G>A)
c.505-41G>A (n.505-41G>A)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched