Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)

Number of alleles fetched