Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.222295532_222295547delCA2586971537PAX3c.434_449del (p.Arg145GlnfsTer2)
n.815_830del
c.431_446del (p.Arg144GlnfsTer2)
c.578_593del (p.Arg193GlnfsTer2)
2g.222295538_222295546dupCA2577257578PAX3c.433_441dup (p.Thr147_Val148insArgAsnThr)
n.814_822dup
c.430_438dup (p.Thr146_Val147insArgAsnThr)
c.577_585dup (p.Thr195_Val196insArgAsnThr)
 gnomAD v4
2g.222295544T>ACA431575804PAX3c.435A>T (p.Arg145=)
n.816A>T
c.432A>T (p.Arg144=)
c.579A>T (p.Arg193=)
2g.222295544T>CCA431575805PAX3c.435A>G (p.Arg145=)
n.816A>G
c.432A>G (p.Arg144=)
c.579A>G (p.Arg193=)
2g.222295544T>GCA431575806PAX3c.435A>C (p.Arg145=)
n.816A>C
c.432A>C (p.Arg144=)
c.579A>C (p.Arg193=)
2g.222295545C>ACA351113065PAX3c.434G>T (p.Arg145Leu)
n.815G>T
c.431G>T (p.Arg144Leu)
c.578G>T (p.Arg193Leu)
 dbSNP
2g.222295545C=CA1330545776PAX3c.434G= (p.Arg145=)
n.815G=
c.431G= (p.Arg144=)
c.578G= (p.Arg193=)
2g.222295545C>GCA351113066PAX3c.434G>C (p.Arg145Pro)
n.815G>C
c.431G>C (p.Arg144Pro)
c.578G>C (p.Arg193Pro)
2g.222295545C>TCA351113067PAX3c.434G>A (p.Arg145Gln)
n.815G>A
c.431G>A (p.Arg144Gln)
c.578G>A (p.Arg193Gln)
2g.222295546G>ACA351113069PAX3c.433C>T (p.Arg145Ter)
n.814C>T
c.430C>T (p.Arg144Ter)
c.577C>T (p.Arg193Ter)
 ClinVar
2g.222295546G>CCA351113068PAX3c.433C>G (p.Arg145Gly)
n.814C>G
c.430C>G (p.Arg144Gly)
c.577C>G (p.Arg193Gly)
 gnomAD v4
2g.222295546G=CA1330545777PAX3c.433C= (p.Arg145=)
n.814C=
c.430C= (p.Arg144=)
c.577C= (p.Arg193=)
2g.222295546G>TCA431575807PAX3c.433C>A (p.Arg145=)
n.814C>A
c.430C>A (p.Arg144=)
c.577C>A (p.Arg193=)
 dbSNP gnomAD v3 gnomAD v4
2g.222295547A=CA1330545778PAX3c.432T= (p.Asp144=)
n.813T=
c.429T= (p.Asp143=)
c.576T= (p.Asp192=)
2g.222295547A>CCA351113070PAX3c.432T>G (p.Asp144Glu)
n.813T>G
c.429T>G (p.Asp143Glu)
c.576T>G (p.Asp192Glu)
2g.222295547A>GCA2135749PAX3c.432T>C (p.Asp144=)
n.813T>C
c.429T>C (p.Asp143=)
c.576T>C (p.Asp192=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295547A>TCA351113071PAX3c.432T>A (p.Asp144Glu)
n.813T>A
c.429T>A (p.Asp143Glu)
c.576T>A (p.Asp192Glu)
2g.222295548T>ACA351113072PAX3c.431A>T (p.Asp144Val)
n.812A>T
c.428A>T (p.Asp143Val)
c.575A>T (p.Asp192Val)
2g.222295548T>CCA351113073PAX3c.431A>G (p.Asp144Gly)
n.812A>G
c.428A>G (p.Asp143Gly)
c.575A>G (p.Asp192Gly)
2g.222295548T>GCA351113074PAX3c.431A>C (p.Asp144Ala)
n.812A>C
c.428A>C (p.Asp143Ala)
c.575A>C (p.Asp192Ala)
2g.222295549C>ACA2135750PAX3c.430G>T (p.Asp144Tyr)
n.811G>T
c.427G>T (p.Asp143Tyr)
c.574G>T (p.Asp192Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295549C=CA1330545779PAX3c.430G= (p.Asp144=)
n.811G=
c.427G= (p.Asp143=)
c.574G= (p.Asp192=)
2g.222295549C>GCA351113076PAX3c.430G>C (p.Asp144His)
n.811G>C
c.427G>C (p.Asp143His)
c.574G>C (p.Asp192His)
 COSMIC COSMIC COSMIC COSMIC
2g.222295549C>TCA351113075PAX3c.430G>A (p.Asp144Asn)
n.811G>A
c.427G>A (p.Asp143Asn)
c.574G>A (p.Asp192Asn)
2g.222295550A>CCA351113077PAX3c.429T>G (p.Cys143Trp)
n.810T>G
c.426T>G (p.Cys142Trp)
c.573T>G (p.Cys191Trp)
2g.222295550A>GCA431575808PAX3c.429T>C (p.Cys143=)
n.810T>C
c.426T>C (p.Cys142=)
c.573T>C (p.Cys191=)
 ClinVar dbSNP gnomAD v4
2g.222295550A>TCA351113078PAX3c.429T>A (p.Cys143Ter)
n.810T>A
c.426T>A (p.Cys142Ter)
c.573T>A (p.Cys191Ter)
2g.222295551C>ACA351113079PAX3c.428G>T (p.Cys143Phe)
n.809G>T
c.425G>T (p.Cys142Phe)
c.572G>T (p.Cys191Phe)
2g.222295551C>GCA351113080PAX3c.428G>C (p.Cys143Ser)
n.809G>C
c.425G>C (p.Cys142Ser)
c.572G>C (p.Cys191Ser)
2g.222295551C>TCA351113081PAX3c.428G>A (p.Cys143Tyr)
n.809G>A
c.425G>A (p.Cys142Tyr)
c.572G>A (p.Cys191Tyr)
 gnomAD v4
2g.222295552A>CCA351113082PAX3c.427T>G (p.Cys143Gly)
n.808T>G
c.424T>G (p.Cys142Gly)
c.571T>G (p.Cys191Gly)
2g.222295552A>GCA351113083PAX3c.427T>C (p.Cys143Arg)
n.808T>C
c.424T>C (p.Cys142Arg)
c.571T>C (p.Cys191Arg)
2g.222295552A>TCA351113084PAX3c.427T>A (p.Cys143Ser)
n.808T>A
c.424T>A (p.Cys142Ser)
c.571T>A (p.Cys191Ser)
2g.222295553G>ACA431575809PAX3c.426C>T (p.Val142=)
n.807C>T
c.423C>T (p.Val141=)
c.570C>T (p.Val190=)
2g.222295553G>CCA431575811PAX3c.426C>G (p.Val142=)
n.807C>G
c.423C>G (p.Val141=)
c.570C>G (p.Val190=)
2g.222295553G>TCA431575810PAX3c.426C>A (p.Val142=)
n.807C>A
c.423C>A (p.Val141=)
c.570C>A (p.Val190=)
2g.222295554A=CA1330545780PAX3c.425T= (p.Val142=)
n.806T=
c.422T= (p.Val141=)
c.569T= (p.Val190=)
2g.222295554A>CCA351113085PAX3c.425T>G (p.Val142Gly)
n.806T>G
c.422T>G (p.Val141Gly)
c.569T>G (p.Val190Gly)
 dbSNP
2g.222295554A>GCA351113086PAX3c.425T>C (p.Val142Ala)
n.806T>C
c.422T>C (p.Val141Ala)
c.569T>C (p.Val190Ala)
2g.222295554A>TCA351113087PAX3c.425T>A (p.Val142Asp)
n.806T>A
c.422T>A (p.Val141Asp)
c.569T>A (p.Val190Asp)
2g.222295555C>ACA351113088PAX3c.424G>T (p.Val142Phe)
n.805G>T
c.421G>T (p.Val141Phe)
c.568G>T (p.Val190Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
2g.222295555C=CA1330545781PAX3c.424G= (p.Val142=)
n.805G=
c.421G= (p.Val141=)
c.568G= (p.Val190=)
2g.222295555C>GCA351113090PAX3c.424G>C (p.Val142Leu)
n.805G>C
c.421G>C (p.Val141Leu)
c.568G>C (p.Val190Leu)
2g.222295555C>TCA351113089PAX3c.424G>A (p.Val142Ile)
n.805G>A
c.421G>A (p.Val141Ile)
c.568G>A (p.Val190Ile)
 gnomAD v4
2g.222295555_222295559delinsGTAACA2586971539PAX3c.420_424delinsTTAC (p.Ala141TyrfsTer11)
n.801_805delinsTTAC
c.417_421delinsTTAC (p.Ala140TyrfsTer11)
c.564_568delinsTTAC (p.Ala189TyrfsTer11)
2g.222295556C>ACA431575812PAX3c.423G>T (p.Ala141=)
n.804G>T
c.420G>T (p.Ala140=)
c.567G>T (p.Ala189=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222295556C=CA1330545782PAX3c.423G= (p.Ala141=)
n.804G=
c.420G= (p.Ala140=)
c.567G= (p.Ala189=)
2g.222295556C>GCA431575813PAX3c.423G>C (p.Ala141=)
n.804G>C
c.420G>C (p.Ala140=)
c.567G>C (p.Ala189=)
 dbSNP
2g.222295556C>TCA431575814PAX3c.423G>A (p.Ala141=)
n.804G>A
c.420G>A (p.Ala140=)
c.567G>A (p.Ala189=)
 dbSNP gnomAD v2 gnomAD v4
2g.222295557G>ACA351113091PAX3c.422C>T (p.Ala141Val)
n.803C>T
c.419C>T (p.Ala140Val)
c.566C>T (p.Ala189Val)
2g.222295557G>CCA351113092PAX3c.422C>G (p.Ala141Gly)
n.803C>G
c.419C>G (p.Ala140Gly)
c.566C>G (p.Ala189Gly)
2g.222295557G>TCA351113093PAX3c.422C>A (p.Ala141Glu)
n.803C>A
c.419C>A (p.Ala140Glu)
c.566C>A (p.Ala189Glu)
2g.222295558C>ACA351113094PAX3c.421G>T (p.Ala141Ser)
n.802G>T
c.418G>T (p.Ala140Ser)
c.565G>T (p.Ala189Ser)
2g.222295558C=CA1330545783PAX3c.421G= (p.Ala141=)
n.802G=
c.418G= (p.Ala140=)
c.565G= (p.Ala189=)
2g.222295558C>GCA351113095PAX3c.421G>C (p.Ala141Pro)
n.802G>C
c.418G>C (p.Ala140Pro)
c.565G>C (p.Ala189Pro)
2g.222295558C>TCA351113096PAX3c.421G>A (p.Ala141Thr)
n.802G>A
c.418G>A (p.Ala140Thr)
c.565G>A (p.Ala189Thr)
 dbSNP gnomAD v4
2g.222295559G>ACA431575815PAX3c.420C>T (p.Asp140=)
n.801C>T
c.417C>T (p.Asp139=)
c.564C>T (p.Asp188=)
 gnomAD v4
2g.222295559G>CCA351113097PAX3c.420C>G (p.Asp140Glu)
n.801C>G
c.417C>G (p.Asp139Glu)
c.564C>G (p.Asp188Glu)
2g.222295559G=CA1330545784PAX3c.420C= (p.Asp140=)
n.801C=
c.417C= (p.Asp139=)
c.564C= (p.Asp188=)
2g.222295559G>TCA351113098PAX3c.420C>A (p.Asp140Glu)
n.801C>A
c.417C>A (p.Asp139Glu)
c.564C>A (p.Asp188Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.222295560delCA645523631PAX3c.419del (p.Asp140AlafsTer12)
n.800del
c.416del (p.Asp139AlafsTer12)
c.563del (p.Asp188AlafsTer12)
 COSMIC COSMIC COSMIC COSMIC
2g.222295560T>ACA351113099PAX3c.419A>T (p.Asp140Val)
n.800A>T
c.416A>T (p.Asp139Val)
c.563A>T (p.Asp188Val)
2g.222295560T>CCA351113100PAX3c.419A>G (p.Asp140Gly)
n.800A>G
c.416A>G (p.Asp139Gly)
c.563A>G (p.Asp188Gly)
2g.222295560T>GCA351113101PAX3c.419A>C (p.Asp140Ala)
n.800A>C
c.416A>C (p.Asp139Ala)
c.563A>C (p.Asp188Ala)
2g.222295561C>ACA351113104PAX3c.418G>T (p.Asp140Tyr)
n.799G>T
c.415G>T (p.Asp139Tyr)
c.562G>T (p.Asp188Tyr)
2g.222295561C>GCA351113102PAX3c.418G>C (p.Asp140His)
n.799G>C
c.415G>C (p.Asp139His)
c.562G>C (p.Asp188His)
2g.222295561C>TCA351113103PAX3c.418G>A (p.Asp140Asn)
n.799G>A
c.415G>A (p.Asp139Asn)
c.562G>A (p.Asp188Asn)
2g.222295562C>ACA351113105PAX3c.417G>T (p.Lys139Asn)
n.798G>T
c.414G>T (p.Lys138Asn)
c.561G>T (p.Lys187Asn)
2g.222295562C=CA1330545785PAX3c.417G= (p.Lys139=)
n.798G=
c.414G= (p.Lys138=)
c.561G= (p.Lys187=)
2g.222295562C>GCA351113106PAX3c.417G>C (p.Lys139Asn)
n.798G>C
c.414G>C (p.Lys138Asn)
c.561G>C (p.Lys187Asn)
2g.222295562C>TCA431575816PAX3c.417G>A (p.Lys139=)
n.798G>A
c.414G>A (p.Lys138=)
c.561G>A (p.Lys187=)
 dbSNP
2g.222295563T>ACA351113107PAX3c.416A>T (p.Lys139Met)
n.797A>T
c.413A>T (p.Lys138Met)
c.560A>T (p.Lys187Met)
2g.222295563T>CCA351113108PAX3c.416A>G (p.Lys139Arg)
n.797A>G
c.413A>G (p.Lys138Arg)
c.560A>G (p.Lys187Arg)
2g.222295563T>GCA351113109PAX3c.416A>C (p.Lys139Thr)
n.797A>C
c.413A>C (p.Lys138Thr)
c.560A>C (p.Lys187Thr)
2g.222295564T>ACA10581222PAX3c.415A>T (p.Lys139Ter)
n.796A>T
c.412A>T (p.Lys138Ter)
c.559A>T (p.Lys187Ter)
 ClinVar dbSNP
2g.222295564T>CCA351113110PAX3c.415A>G (p.Lys139Glu)
n.796A>G
c.412A>G (p.Lys138Glu)
c.559A>G (p.Lys187Glu)
2g.222295564T>GCA351113111PAX3c.415A>C (p.Lys139Gln)
n.796A>C
c.412A>C (p.Lys138Gln)
c.559A>C (p.Lys187Gln)
2g.222295564T=CA1330545786PAX3c.415A= (p.Lys139=)
n.796A=
c.412A= (p.Lys138=)
c.559A= (p.Lys187=)
2g.222295565G>ACA431575818PAX3c.414C>T (p.Leu138=)
n.795C>T
c.411C>T (p.Leu137=)
c.558C>T (p.Leu186=)
 gnomAD v4
2g.222295565G>CCA431575820PAX3c.414C>G (p.Leu138=)
n.795C>G
c.411C>G (p.Leu137=)
c.558C>G (p.Leu186=)
2g.222295565G>TCA431575819PAX3c.414C>A (p.Leu138=)
n.795C>A
c.411C>A (p.Leu137=)
c.558C>A (p.Leu186=)
2g.222295566A>CCA351113112PAX3c.413T>G (p.Leu138Arg)
n.794T>G
c.410T>G (p.Leu137Arg)
c.557T>G (p.Leu186Arg)
2g.222295566A>GCA351113113PAX3c.413T>C (p.Leu138Pro)
n.794T>C
c.410T>C (p.Leu137Pro)
c.557T>C (p.Leu186Pro)
2g.222295566A>TCA351113114PAX3c.413T>A (p.Leu138His)
n.794T>A
c.410T>A (p.Leu137His)
c.557T>A (p.Leu186His)
2g.222295567G>ACA351113116PAX3c.412C>T (p.Leu138Phe)
n.793C>T
c.409C>T (p.Leu137Phe)
c.556C>T (p.Leu186Phe)
 dbSNP gnomAD v3 gnomAD v4
2g.222295567G>CCA351113117PAX3c.412C>G (p.Leu138Val)
n.793C>G
c.409C>G (p.Leu137Val)
c.556C>G (p.Leu186Val)
 gnomAD v4
2g.222295567G=CA1330545787PAX3c.412C= (p.Leu138=)
n.793C=
c.409C= (p.Leu137=)
c.556C= (p.Leu186=)
2g.222295567G>TCA351113115PAX3c.412C>A (p.Leu138Ile)
n.793C>A
c.409C>A (p.Leu137Ile)
c.556C>A (p.Leu186Ile)
2g.222295568T>ACA351113118PAX3c.411A>T (p.Leu137Phe)
n.792A>T
c.408A>T (p.Leu136Phe)
c.555A>T (p.Leu185Phe)
2g.222295568T>CCA431575821PAX3c.411A>G (p.Leu137=)
n.792A>G
c.408A>G (p.Leu136=)
c.555A>G (p.Leu185=)
2g.222295568T>GCA351113119PAX3c.411A>C (p.Leu137Phe)
n.792A>C
c.408A>C (p.Leu136Phe)
c.555A>C (p.Leu185Phe)
2g.222295569A>CCA351113120PAX3c.410T>G (p.Leu137Ter)
n.791T>G
c.407T>G (p.Leu136Ter)
c.554T>G (p.Leu185Ter)
2g.222295569A>GCA351113121PAX3c.410T>C (p.Leu137Ser)
n.791T>C
c.407T>C (p.Leu136Ser)
c.554T>C (p.Leu185Ser)
2g.222295569A>TCA351113122PAX3c.410T>A (p.Leu137Ter)
n.791T>A
c.407T>A (p.Leu136Ter)
c.554T>A (p.Leu185Ter)
2g.222295570A>CCA351113123PAX3c.409T>G (p.Leu137Val)
n.790T>G
c.406T>G (p.Leu136Val)
c.553T>G (p.Leu185Val)
2g.222295570A>GCA431575822PAX3c.409T>C (p.Leu137=)
n.790T>C
c.406T>C (p.Leu136=)
c.553T>C (p.Leu185=)
2g.222295570A>TCA351113124PAX3c.409T>A (p.Leu137Ile)
n.790T>A
c.406T>A (p.Leu136Ile)
c.553T>A (p.Leu185Ile)
2g.222295571T>ACA351113125PAX3c.408A>T (p.Lys136Asn)
n.789A>T
c.405A>T (p.Lys135Asn)
c.552A>T (p.Lys184Asn)
2g.222295571T>CCA431575823PAX3c.408A>G (p.Lys136=)
n.789A>G
c.405A>G (p.Lys135=)
c.552A>G (p.Lys184=)
2g.222295571T>GCA351113126PAX3c.408A>C (p.Lys136Asn)
n.789A>C
c.405A>C (p.Lys135Asn)
c.552A>C (p.Lys184Asn)
2g.222295572_222295573delCA2663323847PAX3c.407_408del (p.Lys136IlefsTer8)
n.788_789del
c.404_405del (p.Lys135IlefsTer8)
c.551_552del (p.Lys184IlefsTer8)
 gnomAD v4
2g.222295572T>ACA351113127PAX3c.407A>T (p.Lys136Ile)
n.788A>T
c.404A>T (p.Lys135Ile)
c.551A>T (p.Lys184Ile)
2g.222295572T>CCA351113128PAX3c.407A>G (p.Lys136Arg)
n.788A>G
c.404A>G (p.Lys135Arg)
c.551A>G (p.Lys184Arg)
2g.222295572T>GCA351113129PAX3c.407A>C (p.Lys136Thr)
n.788A>C
c.404A>C (p.Lys135Thr)
c.551A>C (p.Lys184Thr)
2g.222295573T>ACA351113130PAX3c.406A>T (p.Lys136Ter)
n.787A>T
c.403A>T (p.Lys135Ter)
c.550A>T (p.Lys184Ter)
2g.222295573T>CCA351113131PAX3c.406A>G (p.Lys136Glu)
n.787A>G
c.403A>G (p.Lys135Glu)
c.550A>G (p.Lys184Glu)
2g.222295573T>GCA351113132PAX3c.406A>C (p.Lys136Gln)
n.787A>C
c.403A>C (p.Lys135Gln)
c.550A>C (p.Lys184Gln)
2g.222295574G>ACA2135751PAX3c.405C>T (p.Asp135=)
n.786C>T
c.402C>T (p.Asp134=)
c.549C>T (p.Asp183=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295574G>CCA351113134PAX3c.405C>G (p.Asp135Glu)
n.786C>G
c.402C>G (p.Asp134Glu)
c.549C>G (p.Asp183Glu)
2g.222295574G=CA1330545788PAX3c.405C= (p.Asp135=)
n.786C=
c.402C= (p.Asp134=)
c.549C= (p.Asp183=)
2g.222295574G>TCA351113133PAX3c.405C>A (p.Asp135Glu)
n.786C>A
c.402C>A (p.Asp134Glu)
c.549C>A (p.Asp183Glu)
2g.222295575T>ACA351113135PAX3c.404A>T (p.Asp135Val)
n.785A>T
c.401A>T (p.Asp134Val)
c.548A>T (p.Asp183Val)
2g.222295575T>CCA351113136PAX3c.404A>G (p.Asp135Gly)
n.785A>G
c.401A>G (p.Asp134Gly)
c.548A>G (p.Asp183Gly)
 dbSNP gnomAD v4
2g.222295575T>GCA351113137PAX3c.404A>C (p.Asp135Ala)
n.785A>C
c.401A>C (p.Asp134Ala)
c.548A>C (p.Asp183Ala)
2g.222295575T=CA1330545789PAX3c.404A= (p.Asp135=)
n.785A=
c.401A= (p.Asp134=)
c.548A= (p.Asp183=)
2g.222295576C>ACA351113138PAX3c.403G>T (p.Asp135Tyr)
n.784G>T
c.400G>T (p.Asp134Tyr)
c.547G>T (p.Asp183Tyr)
2g.222295576C>GCA351113139PAX3c.403G>C (p.Asp135His)
n.784G>C
c.400G>C (p.Asp134His)
c.547G>C (p.Asp183His)
2g.222295576C>TCA351113140PAX3c.403G>A (p.Asp135Asn)
n.784G>A
c.400G>A (p.Asp134Asn)
c.547G>A (p.Asp183Asn)
2g.222295577T>ACA431575826PAX3c.402A>T (p.Arg134=)
n.783A>T
c.399A>T (p.Arg133=)
c.546A>T (p.Arg182=)
2g.222295577T>CCA431575825PAX3c.402A>G (p.Arg134=)
n.783A>G
c.399A>G (p.Arg133=)
c.546A>G (p.Arg182=)
2g.222295577T>GCA431575824PAX3c.402A>C (p.Arg134=)
n.783A>C
c.399A>C (p.Arg133=)
c.546A>C (p.Arg182=)
2g.222295578C>ACA351113141PAX3c.401G>T (p.Arg134Leu)
n.782G>T
c.398G>T (p.Arg133Leu)
c.545G>T (p.Arg182Leu)
2g.222295578C>GCA351113142PAX3c.401G>C (p.Arg134Pro)
n.782G>C
c.398G>C (p.Arg133Pro)
c.545G>C (p.Arg182Pro)
2g.222295578C>TCA351113143PAX3c.401G>A (p.Arg134Gln)
n.782G>A
c.398G>A (p.Arg133Gln)
c.545G>A (p.Arg182Gln)
2g.222295579G>ACA351113144PAX3c.400C>T (p.Arg134Ter)
n.781C>T
c.397C>T (p.Arg133Ter)
c.544C>T (p.Arg182Ter)
2g.222295579G>CCA351113145PAX3c.400C>G (p.Arg134Gly)
n.781C>G
c.397C>G (p.Arg133Gly)
c.544C>G (p.Arg182Gly)
2g.222295579G=CA1330545790PAX3c.400C= (p.Arg134=)
n.781C=
c.397C= (p.Arg133=)
c.544C= (p.Arg182=)
2g.222295579G>TCA431575827PAX3c.400C>A (p.Arg134=)
n.781C>A
c.397C>A (p.Arg133=)
c.544C>A (p.Arg182=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222295580G>ACA431575828PAX3c.399C>T (p.Ile133=)
n.780C>T
c.396C>T (p.Ile132=)
c.543C>T (p.Ile181=)
 gnomAD v4
2g.222295580G>CCA351113146PAX3c.399C>G (p.Ile133Met)
n.780C>G
c.396C>G (p.Ile132Met)
c.543C>G (p.Ile181Met)
2g.222295580G>TCA431575829PAX3c.399C>A (p.Ile133=)
n.780C>A
c.396C>A (p.Ile132=)
c.543C>A (p.Ile181=)
 gnomAD v4
2g.222295580_222295593delinsGATTTCCCAGCTGACA1330545791PAX3c.386_399delinsTCAGCTGGGAAATC (p.Phe129=)
n.767_780delinsTCAGCTGGGAAATC
c.383_396delinsTCAGCTGGGAAATC (p.Phe128=)
c.530_543delinsTCAGCTGGGAAATC (p.Phe177=)
2g.222295581A>CCA351113147PAX3c.398T>G (p.Ile133Ser)
n.779T>G
c.395T>G (p.Ile132Ser)
c.542T>G (p.Ile181Ser)
2g.222295581A>GCA351113149PAX3c.398T>C (p.Ile133Thr)
n.779T>C
c.395T>C (p.Ile132Thr)
c.542T>C (p.Ile181Thr)
2g.222295581A>TCA351113148PAX3c.398T>A (p.Ile133Asn)
n.779T>A
c.395T>A (p.Ile132Asn)
c.542T>A (p.Ile181Asn)
2g.222295582_222295594delCA913190010PAX3c.386_398del (p.Phe129SerfsTer19)
n.767_779del
c.383_395del (p.Phe128SerfsTer19)
c.530_542del (p.Phe177SerfsTer19)
 ClinVar dbSNP
2g.222295582T>ACA351113150PAX3c.397A>T (p.Ile133Phe)
n.778A>T
c.394A>T (p.Ile132Phe)
c.541A>T (p.Ile181Phe)
2g.222295582T>CCA351113151PAX3c.397A>G (p.Ile133Val)
n.778A>G
c.394A>G (p.Ile132Val)
c.541A>G (p.Ile181Val)
2g.222295582T>GCA351113152PAX3c.397A>C (p.Ile133Leu)
n.778A>C
c.394A>C (p.Ile132Leu)
c.541A>C (p.Ile181Leu)
2g.222295583T>ACA351113153PAX3c.396A>T (p.Glu132Asp)
n.777A>T
c.393A>T (p.Glu131Asp)
c.540A>T (p.Glu180Asp)
2g.222295583T>CCA431575830PAX3c.396A>G (p.Glu132=)
n.777A>G
c.393A>G (p.Glu131=)
c.540A>G (p.Glu180=)
2g.222295583T>GCA351113154PAX3c.396A>C (p.Glu132Asp)
n.777A>C
c.393A>C (p.Glu131Asp)
c.540A>C (p.Glu180Asp)
 COSMIC COSMIC COSMIC
2g.222295584T>ACA351113157PAX3c.395A>T (p.Glu132Val)
n.776A>T
c.392A>T (p.Glu131Val)
c.539A>T (p.Glu180Val)
2g.222295584T>CCA351113156PAX3c.395A>G (p.Glu132Gly)
n.776A>G
c.392A>G (p.Glu131Gly)
c.539A>G (p.Glu180Gly)
2g.222295584T>GCA351113155PAX3c.395A>C (p.Glu132Ala)
n.776A>C
c.392A>C (p.Glu131Ala)
c.539A>C (p.Glu180Ala)
2g.222295585C>ACA351113158PAX3c.394G>T (p.Glu132Ter)
n.775G>T
c.391G>T (p.Glu131Ter)
c.538G>T (p.Glu180Ter)
2g.222295585C>GCA351113159PAX3c.394G>C (p.Glu132Gln)
n.775G>C
c.391G>C (p.Glu131Gln)
c.538G>C (p.Glu180Gln)
2g.222295585C>TCA351113160PAX3c.394G>A (p.Glu132Lys)
n.775G>A
c.391G>A (p.Glu131Lys)
c.538G>A (p.Glu180Lys)
 gnomAD v4
2g.222295586C>ACA351113161PAX3c.393G>T (p.Trp131Cys)
n.774G>T
c.390G>T (p.Trp130Cys)
c.537G>T (p.Trp179Cys)
2g.222295586C>GCA351113162PAX3c.393G>C (p.Trp131Cys)
n.774G>C
c.390G>C (p.Trp130Cys)
c.537G>C (p.Trp179Cys)
2g.222295586C>TCA351113163PAX3c.393G>A (p.Trp131Ter)
n.774G>A
c.390G>A (p.Trp130Ter)
c.537G>A (p.Trp179Ter)
2g.222295587C>ACA351113164PAX3c.392G>T (p.Trp131Leu)
n.773G>T
c.389G>T (p.Trp130Leu)
c.536G>T (p.Trp179Leu)
2g.222295587C=CA1330545792PAX3c.392G= (p.Trp131=)
n.773G=
c.389G= (p.Trp130=)
c.536G= (p.Trp179=)
2g.222295587C>GCA2135752PAX3c.392G>C (p.Trp131Ser)
n.773G>C
c.389G>C (p.Trp130Ser)
c.536G>C (p.Trp179Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295587C>TCA351113165PAX3c.392G>A (p.Trp131Ter)
n.773G>A
c.389G>A (p.Trp130Ter)
c.536G>A (p.Trp179Ter)
2g.222295588A=CA1330545793PAX3c.391T= (p.Trp131=)
n.772T=
c.388T= (p.Trp130=)
c.535T= (p.Trp179=)
2g.222295588A>CCA351113166PAX3c.391T>G (p.Trp131Gly)
n.772T>G
c.388T>G (p.Trp130Gly)
c.535T>G (p.Trp179Gly)
2g.222295588A>GCA351113167PAX3c.391T>C (p.Trp131Arg)
n.772T>C
c.388T>C (p.Trp130Arg)
c.535T>C (p.Trp179Arg)
2g.222295588A>TCA351113168PAX3c.391T>A (p.Trp131Arg)
n.772T>A
c.388T>A (p.Trp130Arg)
c.535T>A (p.Trp179Arg)
 dbSNP gnomAD v2 COSMIC COSMIC COSMIC COSMIC
2g.222295589G>ACA431575832PAX3c.390C>T (p.Ser130=)
n.771C>T
c.387C>T (p.Ser129=)
c.534C>T (p.Ser178=)
2g.222295589G>CCA351113169PAX3c.390C>G (p.Ser130Arg)
n.771C>G
c.387C>G (p.Ser129Arg)
c.534C>G (p.Ser178Arg)
2g.222295589G>TCA351113170PAX3c.390C>A (p.Ser130Arg)
n.771C>A
c.387C>A (p.Ser129Arg)
c.534C>A (p.Ser178Arg)
2g.222295590C>ACA351113171PAX3c.389G>T (p.Ser130Ile)
n.770G>T
c.386G>T (p.Ser129Ile)
c.533G>T (p.Ser178Ile)
2g.222295590C>GCA351113172PAX3c.389G>C (p.Ser130Thr)
n.770G>C
c.386G>C (p.Ser129Thr)
c.533G>C (p.Ser178Thr)
2g.222295590C>TCA351113173PAX3c.389G>A (p.Ser130Asn)
n.770G>A
c.386G>A (p.Ser129Asn)
c.533G>A (p.Ser178Asn)
 gnomAD v4
2g.222295591T>ACA351113174PAX3c.388A>T (p.Ser130Cys)
n.769A>T
c.385A>T (p.Ser129Cys)
c.532A>T (p.Ser178Cys)
2g.222295591T>CCA351113175PAX3c.388A>G (p.Ser130Gly)
n.769A>G
c.385A>G (p.Ser129Gly)
c.532A>G (p.Ser178Gly)
2g.222295591T>GCA351113176PAX3c.388A>C (p.Ser130Arg)
n.769A>C
c.385A>C (p.Ser129Arg)
c.532A>C (p.Ser178Arg)
2g.222295592G>ACA431575833PAX3c.387C>T (p.Phe129=)
n.768C>T
c.384C>T (p.Phe128=)
c.531C>T (p.Phe177=)
2g.222295592G>CCA351113178PAX3c.387C>G (p.Phe129Leu)
n.768C>G
c.384C>G (p.Phe128Leu)
c.531C>G (p.Phe177Leu)
2g.222295592G>TCA351113177PAX3c.387C>A (p.Phe129Leu)
n.768C>A
c.384C>A (p.Phe128Leu)
c.531C>A (p.Phe177Leu)
2g.222295593A>CCA351113179PAX3c.386T>G (p.Phe129Cys)
n.767T>G
c.383T>G (p.Phe128Cys)
c.530T>G (p.Phe177Cys)
2g.222295593A>GCA351113180PAX3c.386T>C (p.Phe129Ser)
n.767T>C
c.383T>C (p.Phe128Ser)
c.530T>C (p.Phe177Ser)
2g.222295593A>TCA351113181PAX3c.386T>A (p.Phe129Tyr)
n.767T>A
c.383T>A (p.Phe128Tyr)
c.530T>A (p.Phe177Tyr)
 gnomAD v4
2g.222295594A>CCA351113182PAX3c.385T>G (p.Phe129Val)
n.766T>G
c.382T>G (p.Phe128Val)
c.529T>G (p.Phe177Val)
2g.222295594A>GCA351113183PAX3c.385T>C (p.Phe129Leu)
n.766T>C
c.382T>C (p.Phe128Leu)
c.529T>C (p.Phe177Leu)
2g.222295594A>TCA351113184PAX3c.385T>A (p.Phe129Ile)
n.766T>A
c.382T>A (p.Phe128Ile)
c.529T>A (p.Phe177Ile)
2g.222295595C>ACA351113186PAX3c.384G>T (p.Met128Ile)
n.765G>T
c.381G>T (p.Met127Ile)
c.528G>T (p.Met176Ile)
2g.222295595C=CA1330545794PAX3c.384G= (p.Met128=)
n.765G=
c.381G= (p.Met127=)
c.528G= (p.Met176=)
2g.222295595C>GCA351113185PAX3c.384G>C (p.Met128Ile)
n.765G>C
c.381G>C (p.Met127Ile)
c.528G>C (p.Met176Ile)
2g.222295595C>TCA2135753PAX3c.384G>A (p.Met128Ile)
n.765G>A
c.381G>A (p.Met127Ile)
c.528G>A (p.Met176Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295596A>CCA351113187PAX3c.383T>G (p.Met128Arg)
n.764T>G
c.380T>G (p.Met127Arg)
c.527T>G (p.Met176Arg)
2g.222295596A>GCA351113188PAX3c.383T>C (p.Met128Thr)
n.764T>C
c.380T>C (p.Met127Thr)
c.527T>C (p.Met176Thr)
 gnomAD v4
2g.222295596A>TCA351113189PAX3c.383T>A (p.Met128Lys)
n.764T>A
c.380T>A (p.Met127Lys)
c.527T>A (p.Met176Lys)
2g.222295597T>ACA351113190PAX3c.382A>T (p.Met128Leu)
n.763A>T
c.379A>T (p.Met127Leu)
c.526A>T (p.Met176Leu)
2g.222295597T>CCA2135754PAX3c.382A>G (p.Met128Val)
n.763A>G
c.379A>G (p.Met127Val)
c.526A>G (p.Met176Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295597T>GCA351113191PAX3c.382A>C (p.Met128Leu)
n.763A>C
c.379A>C (p.Met127Leu)
c.526A>C (p.Met176Leu)
2g.222295597T=CA1330545795PAX3c.382A= (p.Met128=)
n.763A=
c.379A= (p.Met127=)
c.526A= (p.Met176=)
2g.222295598G>ACA431575834PAX3c.381C>T (p.Gly127=)
n.762C>T
c.378C>T (p.Gly126=)
c.525C>T (p.Gly175=)
2g.222295598G>CCA431575836PAX3c.381C>G (p.Gly127=)
n.762C>G
c.378C>G (p.Gly126=)
c.525C>G (p.Gly175=)
2g.222295598G>TCA431575835PAX3c.381C>A (p.Gly127=)
n.762C>A
c.378C>A (p.Gly126=)
c.525C>A (p.Gly175=)
 COSMIC COSMIC COSMIC COSMIC
2g.222295599C>ACA351113192PAX3c.380G>T (p.Gly127Val)
n.761G>T
c.377G>T (p.Gly126Val)
c.524G>T (p.Gly175Val)
2g.222295599C=CA1330545796PAX3c.380G= (p.Gly127=)
n.761G=
c.377G= (p.Gly126=)
c.524G= (p.Gly175=)
2g.222295599C>GCA351113194PAX3c.380G>C (p.Gly127Ala)
n.761G>C
c.377G>C (p.Gly126Ala)
c.524G>C (p.Gly175Ala)
2g.222295599C>TCA351113193PAX3c.380G>A (p.Gly127Asp)
n.761G>A
c.377G>A (p.Gly126Asp)
c.524G>A (p.Gly175Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.222295600C>ACA351113195PAX3c.379G>T (p.Gly127Cys)
n.760G>T
c.376G>T (p.Gly126Cys)
c.523G>T (p.Gly175Cys)
2g.222295600C>GCA351113196PAX3c.379G>C (p.Gly127Arg)
n.760G>C
c.376G>C (p.Gly126Arg)
c.523G>C (p.Gly175Arg)
 ClinVar gnomAD v4
2g.222295600C>TCA351113197PAX3c.379G>A (p.Gly127Ser)
n.760G>A
c.376G>A (p.Gly126Ser)
c.523G>A (p.Gly175Ser)
2g.222295601C>ACA431575837PAX3c.378G>T (p.Pro126=)
n.759G>T
c.375G>T (p.Pro125=)
c.522G>T (p.Pro174=)
 COSMIC COSMIC COSMIC COSMIC
2g.222295601C=CA1330545797PAX3c.378G= (p.Pro126=)
n.759G=
c.375G= (p.Pro125=)
c.522G= (p.Pro174=)
2g.222295601C>GCA431575838PAX3c.378G>C (p.Pro126=)
n.759G>C
c.375G>C (p.Pro125=)
c.522G>C (p.Pro174=)
2g.222295601C>TCA66340498PAX3c.378G>A (p.Pro126=)
n.759G>A
c.375G>A (p.Pro125=)
c.522G>A (p.Pro174=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.222295602G>ACA2135755PAX3c.377C>T (p.Pro126Leu)
n.758C>T
c.374C>T (p.Pro125Leu)
c.521C>T (p.Pro174Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295602G>CCA351113198PAX3c.377C>G (p.Pro126Arg)
n.758C>G
c.374C>G (p.Pro125Arg)
c.521C>G (p.Pro174Arg)
 gnomAD v4
2g.222295602G=CA1330545798PAX3c.377C= (p.Pro126=)
n.758C=
c.374C= (p.Pro125=)
c.521C= (p.Pro174=)
2g.222295602G>TCA351113199PAX3c.377C>A (p.Pro126Gln)
n.758C>A
c.374C>A (p.Pro125Gln)
c.521C>A (p.Pro174Gln)
2g.222295603G>ACA351113200PAX3c.376C>T (p.Pro126Ser)
n.757C>T
c.373C>T (p.Pro125Ser)
c.520C>T (p.Pro174Ser)
2g.222295603G>CCA351113201PAX3c.376C>G (p.Pro126Ala)
n.757C>G
c.373C>G (p.Pro125Ala)
c.520C>G (p.Pro174Ala)
2g.222295603G>TCA351113202PAX3c.376C>A (p.Pro126Thr)
n.757C>A
c.373C>A (p.Pro125Thr)
c.520C>A (p.Pro174Thr)
2g.222295604G>ACA431575839PAX3c.375C>T (p.Asn125=)
n.756C>T
c.372C>T (p.Asn124=)
c.519C>T (p.Asn173=)
 gnomAD v4
2g.222295604G>CCA351113203PAX3c.375C>G (p.Asn125Lys)
n.756C>G
c.372C>G (p.Asn124Lys)
c.519C>G (p.Asn173Lys)
 gnomAD v4 COSMIC
2g.222295604G=CA1330545799PAX3c.375C= (p.Asn125=)
n.756C=
c.372C= (p.Asn124=)
c.519C= (p.Asn173=)
2g.222295604G>TCA351113204PAX3c.375C>A (p.Asn125Lys)
n.756C>A
c.372C>A (p.Asn124Lys)
c.519C>A (p.Asn173Lys)
 dbSNP
2g.222295605T>ACA351113207PAX3c.374A>T (p.Asn125Ile)
n.755A>T
c.371A>T (p.Asn124Ile)
c.518A>T (p.Asn173Ile)
2g.222295605T>CCA351113205PAX3c.374A>G (p.Asn125Ser)
n.755A>G
c.371A>G (p.Asn124Ser)
c.518A>G (p.Asn173Ser)
2g.222295605T>GCA351113206PAX3c.374A>C (p.Asn125Thr)
n.755A>C
c.371A>C (p.Asn124Thr)
c.518A>C (p.Asn173Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.222295606T>ACA351113208PAX3c.373A>T (p.Asn125Tyr)
n.754A>T
c.370A>T (p.Asn124Tyr)
c.517A>T (p.Asn173Tyr)
2g.222295606T>CCA351113209PAX3c.373A>G (p.Asn125Asp)
n.754A>G
c.370A>G (p.Asn124Asp)
c.517A>G (p.Asn173Asp)
 gnomAD v4
2g.222295606T>GCA351113210PAX3c.373A>C (p.Asn125His)
n.754A>C
c.370A>C (p.Asn124His)
c.517A>C (p.Asn173His)
2g.222295611_222295612delCA2580616712PAX3c.372_373del (p.Asn125ProfsTer19)
n.753_754del
c.369_370del (p.Asn124ProfsTer19)
c.516_517del (p.Asn173ProfsTer19)
 ClinVar dbSNP
2g.222295607C>ACA351113211PAX3c.372G>T (p.Glu124Asp)
n.753G>T
c.369G>T (p.Glu123Asp)
c.516G>T (p.Glu172Asp)
2g.222295607C>GCA351113212PAX3c.372G>C (p.Glu124Asp)
n.753G>C
c.369G>C (p.Glu123Asp)
c.516G>C (p.Glu172Asp)
2g.222295607C>TCA431575840PAX3c.372G>A (p.Glu124=)
n.753G>A
c.369G>A (p.Glu123=)
c.516G>A (p.Glu172=)
2g.222295608T>ACA351113213PAX3c.371A>T (p.Glu124Val)
n.752A>T
c.368A>T (p.Glu123Val)
c.515A>T (p.Glu172Val)
2g.222295608T>CCA351113214PAX3c.371A>G (p.Glu124Gly)
n.752A>G
c.368A>G (p.Glu123Gly)
c.515A>G (p.Glu172Gly)
2g.222295608T>GCA351113215PAX3c.371A>C (p.Glu124Ala)
n.752A>C
c.368A>C (p.Glu123Ala)
c.515A>C (p.Glu172Ala)
2g.222295609C>ACA351113216PAX3c.370G>T (p.Glu124Ter)
n.751G>T
c.367G>T (p.Glu123Ter)
c.514G>T (p.Glu172Ter)
2g.222295609C>GCA351113217PAX3c.370G>C (p.Glu124Gln)
n.751G>C
c.367G>C (p.Glu123Gln)
c.514G>C (p.Glu172Gln)
 gnomAD v4
2g.222295609C>TCA351113218PAX3c.370G>A (p.Glu124Lys)
n.751G>A
c.367G>A (p.Glu123Lys)
c.514G>A (p.Glu172Lys)
 gnomAD v4
2g.222295609_222295614delinsCTCTTTCA1330545800PAX3c.365_370delinsAAAGAG (p.Lys122=)
n.746_751delinsAAAGAG
c.362_367delinsAAAGAG (p.Lys121=)
c.509_514delinsAAAGAG (p.Lys170=)
2g.222295610T>ACA351113219PAX3c.369A>T (p.Arg123Ser)
n.750A>T
c.366A>T (p.Arg122Ser)
c.513A>T (p.Arg171Ser)
2g.222295610T>CCA431575841PAX3c.369A>G (p.Arg123=)
n.750A>G
c.366A>G (p.Arg122=)
c.513A>G (p.Arg171=)
2g.222295610T>GCA351113220PAX3c.369A>C (p.Arg123Ser)
n.750A>C
c.366A>C (p.Arg122Ser)
c.513A>C (p.Arg171Ser)
 gnomAD v4
2g.222295611_222295615delCA913190011PAX3c.365_369del (p.Lys122ArgfsTer21)
n.746_750del
c.362_366del (p.Lys121ArgfsTer21)
c.509_513del (p.Lys170ArgfsTer21)
 ClinVar dbSNP
2g.222295611C>ACA351113223PAX3c.368G>T (p.Arg123Ile)
n.749G>T
c.365G>T (p.Arg122Ile)
c.512G>T (p.Arg171Ile)
2g.222295611C>GCA351113222PAX3c.368G>C (p.Arg123Thr)
n.749G>C
c.365G>C (p.Arg122Thr)
c.512G>C (p.Arg171Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.222295611C>TCA351113221PAX3c.368G>A (p.Arg123Lys)
n.749G>A
c.365G>A (p.Arg122Lys)
c.512G>A (p.Arg171Lys)
 gnomAD v4
2g.222295612T>ACA351113224PAX3c.367A>T (p.Arg123Ter)
n.748A>T
c.364A>T (p.Arg122Ter)
c.511A>T (p.Arg171Ter)
 COSMIC COSMIC COSMIC COSMIC
2g.222295612T>CCA351113225PAX3c.367A>G (p.Arg123Gly)
n.748A>G
c.364A>G (p.Arg122Gly)
c.511A>G (p.Arg171Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.222295612T>GCA431575842PAX3c.367A>C (p.Arg123=)
n.748A>C
c.364A>C (p.Arg122=)
c.511A>C (p.Arg171=)
2g.222295612T=CA1330545801PAX3c.367A= (p.Arg123=)
n.748A=
c.364A= (p.Arg122=)
c.511A= (p.Arg171=)
2g.222295614_222295615delCA2499215689PAX3c.366_367del (p.Asn125ProfsTer19)
n.747_748del
c.363_364del (p.Asn124ProfsTer19)
c.510_511del (p.Asn173ProfsTer19)
 ClinVar dbSNP
2g.222295612_222295613insGACGCA1330545802PAX3c.366_367insCGTC (p.Glu124GlnfsTer22)
n.747_748insCGTC
c.363_364insCGTC (p.Glu123GlnfsTer22)
c.510_511insCGTC (p.Glu172GlnfsTer22)
 dbSNP
2g.222295612_222295613insAATAAACGCTCTGCCTCCGCCTCACGCA2135756PAX3c.366_367insCGTGAGGCGGAGGCAGAGCGTTTATT (p.Asn125AlafsTer36)
n.747_748insCGTGAGGCGGAGGCAGAGCGTTTATT
c.363_364insCGTGAGGCGGAGGCAGAGCGTTTATT (p.Asn124AlafsTer36)
c.510_511insCGTGAGGCGGAGGCAGAGCGTTTATT (p.Asn173AlafsTer36)
 dbSNP ExAC
2g.222295613T>ACA351113226PAX3c.366A>T (p.Lys122Asn)
n.747A>T
c.363A>T (p.Lys121Asn)
c.510A>T (p.Lys170Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.222295613T>CCA431575843PAX3c.366A>G (p.Lys122=)
n.747A>G
c.363A>G (p.Lys121=)
c.510A>G (p.Lys170=)
2g.222295613T>GCA351113227PAX3c.366A>C (p.Lys122Asn)
n.747A>C
c.363A>C (p.Lys121Asn)
c.510A>C (p.Lys170Asn)
2g.222295614T>ACA351113228PAX3c.365A>T (p.Lys122Ile)
n.746A>T
c.362A>T (p.Lys121Ile)
c.509A>T (p.Lys170Ile)
2g.222295614T>CCA351113229PAX3c.365A>G (p.Lys122Arg)
n.746A>G
c.362A>G (p.Lys121Arg)
c.509A>G (p.Lys170Arg)
2g.222295614T>GCA351113230PAX3c.365A>C (p.Lys122Thr)
n.746A>C
c.362A>C (p.Lys121Thr)
c.509A>C (p.Lys170Thr)
2g.222295615T>ACA351113231PAX3c.364A>T (p.Lys122Ter)
n.745A>T
c.361A>T (p.Lys121Ter)
c.508A>T (p.Lys170Ter)
2g.222295615T>CCA351113232PAX3c.364A>G (p.Lys122Glu)
n.745A>G
c.361A>G (p.Lys121Glu)
c.508A>G (p.Lys170Glu)
 ClinVar dbSNP gnomAD v4
2g.222295615T>GCA351113233PAX3c.364A>C (p.Lys122Gln)
n.745A>C
c.361A>C (p.Lys121Gln)
c.508A>C (p.Lys170Gln)
2g.222295615T=CA1330545803PAX3c.364A= (p.Lys122=)
n.745A=
c.361A= (p.Lys121=)
c.508A= (p.Lys170=)
2g.222295616G>ACA431575844PAX3c.363C>T (p.Tyr121=)
n.744C>T
c.360C>T (p.Tyr120=)
c.507C>T (p.Tyr169=)
 dbSNP gnomAD v3 gnomAD v4
2g.222295616G>CCA351113234PAX3c.363C>G (p.Tyr121Ter)
n.744C>G
c.360C>G (p.Tyr120Ter)
c.507C>G (p.Tyr169Ter)
2g.222295616G=CA1330545804PAX3c.363C= (p.Tyr121=)
n.744C=
c.360C= (p.Tyr120=)
c.507C= (p.Tyr169=)
2g.222295616G>TCA351113235PAX3c.363C>A (p.Tyr121Ter)
n.744C>A
c.360C>A (p.Tyr120Ter)
c.507C>A (p.Tyr169Ter)
2g.222295617T>ACA2135757PAX3c.362A>T (p.Tyr121Phe)
n.743A>T
c.359A>T (p.Tyr120Phe)
c.506A>T (p.Tyr169Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295617T>CCA351113237PAX3c.362A>G (p.Tyr121Cys)
n.743A>G
c.359A>G (p.Tyr120Cys)
c.506A>G (p.Tyr169Cys)
2g.222295617T>GCA351113236PAX3c.362A>C (p.Tyr121Ser)
n.743A>C
c.359A>C (p.Tyr120Ser)
c.506A>C (p.Tyr169Ser)
2g.222295617T=CA1330545805PAX3c.362A= (p.Tyr121=)
n.743A=
c.359A= (p.Tyr120=)
c.506A= (p.Tyr169=)
2g.222295618A>CCA351113238PAX3c.361T>G (p.Tyr121Asp)
n.742T>G
c.358T>G (p.Tyr120Asp)
c.505T>G (p.Tyr169Asp)
2g.222295618A>GCA351113240PAX3c.361T>C (p.Tyr121His)
n.742T>C
c.358T>C (p.Tyr120His)
c.505T>C (p.Tyr169His)
 gnomAD v4
2g.222295618A>TCA351113239PAX3c.361T>A (p.Tyr121Asn)
n.742T>A
c.358T>A (p.Tyr120Asn)
c.505T>A (p.Tyr169Asn)
2g.222295619T>ACA351113241PAX3c.360A>T (p.Glu120Asp)
n.741A>T
c.357A>T (p.Glu119Asp)
c.504A>T (p.Glu168Asp)
 dbSNP
2g.222295619T>CCA431575845PAX3c.360A>G (p.Glu120=)
n.741A>G
c.357A>G (p.Glu119=)
c.504A>G (p.Glu168=)
 gnomAD v4
2g.222295619T>GCA351113242PAX3c.360A>C (p.Glu120Asp)
n.741A>C
c.357A>C (p.Glu119Asp)
c.504A>C (p.Glu168Asp)
2g.222295619T=CA1330545806PAX3c.360A= (p.Glu120=)
n.741A=
c.357A= (p.Glu119=)
c.504A= (p.Glu168=)
2g.222295620T>ACA351113243PAX3c.359A>T (p.Glu120Val)
n.740A>T
c.356A>T (p.Glu119Val)
c.503A>T (p.Glu168Val)
2g.222295620T>CCA351113244PAX3c.359A>G (p.Glu120Gly)
n.740A>G
c.356A>G (p.Glu119Gly)
c.503A>G (p.Glu168Gly)
2g.222295620T>GCA351113245PAX3c.359A>C (p.Glu120Ala)
n.740A>C
c.356A>C (p.Glu119Ala)
c.503A>C (p.Glu168Ala)
2g.222295621C>ACA351113246PAX3c.358G>T (p.Glu120Ter)
n.739G>T
c.355G>T (p.Glu119Ter)
c.502G>T (p.Glu168Ter)
2g.222295621C>GCA351113247PAX3c.358G>C (p.Glu120Gln)
n.739G>C
c.355G>C (p.Glu119Gln)
c.502G>C (p.Glu168Gln)
2g.222295621C>TCA351113248PAX3c.358G>A (p.Glu120Lys)
n.739G>A
c.355G>A (p.Glu119Lys)
c.502G>A (p.Glu168Lys)
 gnomAD v4
2g.222295622delCA2586971540PAX3c.358del (p.Glu120AsnfsTer?)
n.739del
c.355del (p.Glu119AsnfsTer?)
c.502del (p.Glu168AsnfsTer?)
2g.222295622C>ACA351113249PAX3c.357G>T (p.Glu119Asp)
n.738G>T
c.354G>T (p.Glu118Asp)
c.501G>T (p.Glu167Asp)
2g.222295622C=CA1330545807PAX3c.357G= (p.Glu119=)
n.738G=
c.354G= (p.Glu118=)
c.501G= (p.Glu167=)
2g.222295622C>GCA351113250PAX3c.357G>C (p.Glu119Asp)
n.738G>C
c.354G>C (p.Glu118Asp)
c.501G>C (p.Glu167Asp)
2g.222295622C>TCA2135758PAX3c.357G>A (p.Glu119=)
n.738G>A
c.354G>A (p.Glu118=)
c.501G>A (p.Glu167=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222295623T>ACA351113253PAX3c.356A>T (p.Glu119Val)
n.737A>T
c.353A>T (p.Glu118Val)
c.500A>T (p.Glu167Val)
2g.222295623T>CCA351113252PAX3c.356A>G (p.Glu119Gly)
n.737A>G
c.353A>G (p.Glu118Gly)
c.500A>G (p.Glu167Gly)
2g.222295623T>GCA351113251PAX3c.356A>C (p.Glu119Ala)
n.737A>C
c.353A>C (p.Glu118Ala)
c.500A>C (p.Glu167Ala)
2g.222295624C>ACA351113254PAX3c.355G>T (p.Glu119Ter)
n.736G>T
c.352G>T (p.Glu118Ter)
c.499G>T (p.Glu167Ter)
2g.222295624C>GCA351113255PAX3c.355G>C (p.Glu119Gln)
n.736G>C
c.352G>C (p.Glu118Gln)
c.499G>C (p.Glu167Gln)
2g.222295624C>TCA351113256PAX3c.355G>A (p.Glu119Lys)
n.736G>A
c.352G>A (p.Glu118Lys)
c.499G>A (p.Glu167Lys)
 COSMIC COSMIC COSMIC COSMIC
2g.222295625A=CA1330545808PAX3c.354T= (p.Ile118=)
n.735T=
c.351T= (p.Ile117=)
c.498T= (p.Ile166=)
2g.222295625A>CCA351113257PAX3c.354T>G (p.Ile118Met)
n.735T>G
c.351T>G (p.Ile117Met)
c.498T>G (p.Ile166Met)
 dbSNP gnomAD v3 gnomAD v4
2g.222295625A>GCA431575846PAX3c.354T>C (p.Ile118=)
n.735T>C
c.351T>C (p.Ile117=)
c.498T>C (p.Ile166=)
2g.222295625A>TCA431575847PAX3c.354T>A (p.Ile118=)
n.735T>A
c.351T>A (p.Ile117=)
c.498T>A (p.Ile166=)
2g.222295626A>CCA351113258PAX3c.353T>G (p.Ile118Ser)
n.734T>G
c.350T>G (p.Ile117Ser)
c.497T>G (p.Ile166Ser)
2g.222295626A>GCA351113259PAX3c.353T>C (p.Ile118Thr)
n.734T>C
c.350T>C (p.Ile117Thr)
c.497T>C (p.Ile166Thr)
2g.222295626A>TCA351113260PAX3c.353T>A (p.Ile118Asn)
n.734T>A
c.350T>A (p.Ile117Asn)
c.497T>A (p.Ile166Asn)
2g.222295627T>ACA351113261PAX3c.352A>T (p.Ile118Phe)
n.733A>T
c.349A>T (p.Ile117Phe)
c.496A>T (p.Ile166Phe)
2g.222295627T>CCA351113262PAX3c.352A>G (p.Ile118Val)
n.733A>G
c.349A>G (p.Ile117Val)
c.496A>G (p.Ile166Val)
2g.222295627T>GCA351113263PAX3c.352A>C (p.Ile118Leu)
n.733A>C
c.349A>C (p.Ile117Leu)
c.496A>C (p.Ile166Leu)
2g.222295628T>ACA351113264PAX3c.351A>T (p.Lys117Asn)
n.732A>T
c.348A>T (p.Lys116Asn)
c.495A>T (p.Lys165Asn)
2g.222295628T>CCA431575848PAX3c.351A>G (p.Lys117=)
n.732A>G
c.348A>G (p.Lys116=)
c.495A>G (p.Lys165=)
2g.222295628T>GCA351113265PAX3c.351A>C (p.Lys117Asn)
n.732A>C
c.348A>C (p.Lys116Asn)
c.495A>C (p.Lys165Asn)
2g.222295629T>ACA351113268PAX3c.350A>T (p.Lys117Ile)
n.731A>T
c.347A>T (p.Lys116Ile)
c.494A>T (p.Lys165Ile)
2g.222295629T>CCA351113267PAX3c.350A>G (p.Lys117Arg)
n.731A>G
c.347A>G (p.Lys116Arg)
c.494A>G (p.Lys165Arg)
2g.222295629T>GCA351113266PAX3c.350A>C (p.Lys117Thr)
n.731A>C
c.347A>C (p.Lys116Thr)
c.494A>C (p.Lys165Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.222295629T=CA1330545809PAX3c.350A= (p.Lys117=)
n.731A=
c.347A= (p.Lys116=)
c.494A= (p.Lys165=)
2g.222295630T>ACA351113269PAX3c.349A>T (p.Lys117Ter)
n.730A>T
c.346A>T (p.Lys116Ter)
c.493A>T (p.Lys165Ter)
2g.222295630T>CCA351113270PAX3c.349A>G (p.Lys117Glu)
n.730A>G
c.346A>G (p.Lys116Glu)
c.493A>G (p.Lys165Glu)
 gnomAD v4
2g.222295630T>GCA351113271PAX3c.349A>C (p.Lys117Gln)
n.730A>C
c.346A>C (p.Lys116Gln)
c.493A>C (p.Lys165Gln)
2g.222295631C>ACA351113272PAX3c.348G>T (p.Lys116Asn)
n.729G>T
c.345G>T (p.Lys115Asn)
c.492G>T (p.Lys164Asn)
2g.222295631C>GCA351113273PAX3c.348G>C (p.Lys116Asn)
n.729G>C
c.345G>C (p.Lys115Asn)
c.492G>C (p.Lys164Asn)
2g.222295631C>TCA431575849PAX3c.348G>A (p.Lys116=)
n.729G>A
c.345G>A (p.Lys115=)
c.492G>A (p.Lys164=)
2g.222295632T>ACA351113274PAX3c.347A>T (p.Lys116Met)
n.728A>T
c.344A>T (p.Lys115Met)
c.491A>T (p.Lys164Met)
2g.222295632T>CCA351113275PAX3c.347A>G (p.Lys116Arg)
n.728A>G
c.344A>G (p.Lys115Arg)
c.491A>G (p.Lys164Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222295632T>GCA351113276PAX3c.347A>C (p.Lys116Thr)
n.728A>C
c.344A>C (p.Lys115Thr)
c.491A>C (p.Lys164Thr)
2g.222295632T=CA1330545810PAX3c.347A= (p.Lys116=)
n.728A=
c.344A= (p.Lys115=)
c.491A= (p.Lys164=)
2g.222295633T>ACA351113277PAX3c.346A>T (p.Lys116Ter)
n.727A>T
c.343A>T (p.Lys115Ter)
c.490A>T (p.Lys164Ter)
2g.222295633T>CCA351113278PAX3c.346A>G (p.Lys116Glu)
n.727A>G
c.343A>G (p.Lys115Glu)
c.490A>G (p.Lys164Glu)
2g.222295633T>GCA351113279PAX3c.346A>C (p.Lys116Gln)
n.727A>C
c.343A>C (p.Lys115Gln)
c.490A>C (p.Lys164Gln)
2g.222295634C>ACA351113280PAX3c.345G>T (p.Glu115Asp)
n.726G>T
c.342G>T (p.Glu114Asp)
c.489G>T (p.Glu163Asp)
2g.222295634C>GCA351113281PAX3c.345G>C (p.Glu115Asp)
n.726G>C
c.342G>C (p.Glu114Asp)
c.489G>C (p.Glu163Asp)
2g.222295634C>TCA431575850PAX3c.345G>A (p.Glu115=)
n.726G>A
c.342G>A (p.Glu114=)
c.489G>A (p.Glu163=)
 COSMIC COSMIC COSMIC COSMIC
2g.222295635_222295637delCA2663323848PAX3c.343_345del (p.Glu115del)
n.724_726del
c.340_342del (p.Glu114del)
c.487_489del (p.Glu163del)
 gnomAD v4
2g.222295635T>ACA351113284PAX3c.344A>T (p.Glu115Val)
n.725A>T
c.341A>T (p.Glu114Val)
c.488A>T (p.Glu163Val)
2g.222295635T>CCA351113282PAX3c.344A>G (p.Glu115Gly)
n.725A>G
c.341A>G (p.Glu114Gly)
c.488A>G (p.Glu163Gly)
2g.222295635T>GCA351113283PAX3c.344A>C (p.Glu115Ala)
n.725A>C
c.341A>C (p.Glu114Ala)
c.488A>C (p.Glu163Ala)
2g.222295636C>ACA351113285PAX3c.343G>T (p.Glu115Ter)
n.724G>T
c.340G>T (p.Glu114Ter)
c.487G>T (p.Glu163Ter)
 COSMIC COSMIC COSMIC COSMIC
2g.222295636C>GCA351113286PAX3c.343G>C (p.Glu115Gln)
n.724G>C
c.340G>C (p.Glu114Gln)
c.487G>C (p.Glu163Gln)
2g.222295636C>TCA351113287PAX3c.343G>A (p.Glu115Lys)
n.724G>A
c.340G>A (p.Glu114Lys)
c.487G>A (p.Glu163Lys)
2g.222295637C>ACA431575851PAX3c.342G>T (p.Val114=)
n.723G>T
c.339G>T (p.Val113=)
c.486G>T (p.Val162=)
2g.222295637C=CA1330545811PAX3c.342G= (p.Val114=)
n.723G=
c.339G= (p.Val113=)
c.486G= (p.Val162=)
2g.222295637C>GCA431575852PAX3c.342G>C (p.Val114=)
n.723G>C
c.339G>C (p.Val113=)
c.486G>C (p.Val162=)
2g.222295637C>TCA66340499PAX3c.342G>A (p.Val114=)
n.723G>A
c.339G>A (p.Val113=)
c.486G>A (p.Val162=)
 ClinVar dbSNP
2g.222295638A>CCA351113288PAX3c.341T>G (p.Val114Gly)
n.722T>G
c.338T>G (p.Val113Gly)
c.485T>G (p.Val162Gly)
2g.222295638A>GCA351113289PAX3c.341T>C (p.Val114Ala)
n.722T>C
c.338T>C (p.Val113Ala)
c.485T>C (p.Val162Ala)
2g.222295638A>TCA351113290PAX3c.341T>A (p.Val114Glu)
n.722T>A
c.338T>A (p.Val113Glu)
c.485T>A (p.Val162Glu)
2g.222295639C>ACA2135759PAX3c.340G>T (p.Val114Leu)
n.721G>T
c.337G>T (p.Val113Leu)
c.484G>T (p.Val162Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222295639C=CA1330545812PAX3c.340G= (p.Val114=)
n.721G=
c.337G= (p.Val113=)
c.484G= (p.Val162=)
2g.222295639C>GCA351113291PAX3c.340G>C (p.Val114Leu)
n.721G>C
c.337G>C (p.Val113Leu)
c.484G>C (p.Val162Leu)
2g.222295639C>TCA2135760PAX3c.340G>A (p.Val114Met)
n.721G>A
c.337G>A (p.Val113Met)
c.484G>A (p.Val162Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222295640G>ACA66340500PAX3c.339C>T (p.Asp113=)
n.720C>T
c.336C>T (p.Asp112=)
c.483C>T (p.Asp161=)
 dbSNP gnomAD v2 gnomAD v4
2g.222295640G>CCA351113292PAX3c.339C>G (p.Asp113Glu)
n.720C>G
c.336C>G (p.Asp112Glu)
c.483C>G (p.Asp161Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222295640G=CA1330545813PAX3c.339C= (p.Asp113=)
n.720C=
c.336C= (p.Asp112=)
c.483C= (p.Asp161=)
2g.222295640G>TCA351113293PAX3c.339C>A (p.Asp113Glu)
n.720C>A
c.336C>A (p.Asp112Glu)
c.483C>A (p.Asp161Glu)
 gnomAD v4
2g.222295641T>ACA351113295PAX3c.338A>T (p.Asp113Val)
n.719A>T
c.335A>T (p.Asp112Val)
c.482A>T (p.Asp161Val)
 gnomAD v4
2g.222295641T>CCA351113296PAX3c.338A>G (p.Asp113Gly)
n.719A>G
c.335A>G (p.Asp112Gly)
c.482A>G (p.Asp161Gly)
2g.222295641T>GCA351113294PAX3c.338A>C (p.Asp113Ala)
n.719A>C
c.335A>C (p.Asp112Ala)
c.482A>C (p.Asp161Ala)
2g.222295642C>ACA351113298PAX3c.337G>T (p.Asp113Tyr)
n.718G>T
c.334G>T (p.Asp112Tyr)
c.481G>T (p.Asp161Tyr)
2g.222295642C>GCA351113297PAX3c.337G>C (p.Asp113His)
n.718G>C
c.334G>C (p.Asp112His)
c.481G>C (p.Asp161His)
2g.222295642C>TCA351113299PAX3c.337G>A (p.Asp113Asn)
n.718G>A
c.334G>A (p.Asp112Asn)
c.481G>A (p.Asp161Asn)
2g.222295643A>CCA431575854PAX3c.336T>G (p.Pro112=)
n.717T>G
c.333T>G (p.Pro111=)
c.480T>G (p.Pro160=)
2g.222295643A>GCA431575855PAX3c.336T>C (p.Pro112=)
n.717T>C
c.333T>C (p.Pro111=)
c.480T>C (p.Pro160=)
2g.222295643A>TCA431575853PAX3c.336T>A (p.Pro112=)
n.717T>A
c.333T>A (p.Pro111=)
c.480T>A (p.Pro160=)
2g.222295644G>ACA351113300PAX3c.335C>T (p.Pro112Leu)
n.716C>T
c.332C>T (p.Pro111Leu)
c.479C>T (p.Pro160Leu)
2g.222295644G>CCA351113302PAX3c.335C>G (p.Pro112Arg)
n.716C>G
c.332C>G (p.Pro111Arg)
c.479C>G (p.Pro160Arg)
2g.222295644G>TCA351113301PAX3c.335C>A (p.Pro112His)
n.716C>A
c.332C>A (p.Pro111His)
c.479C>A (p.Pro160His)

Number of alleles fetched