Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.222232183T>ACA351112543PAX3c.687A>T (p.Glu229Asp)
n.501A>T
c.684A>T (p.Glu228Asp)
c.831A>T (p.Glu277Asp)
c.123A>T (p.Glu41Asp)
n.287+10213T>A
2g.222232183T>CCA431575642PAX3c.687A>G (p.Glu229=)
n.501A>G
c.684A>G (p.Glu228=)
c.831A>G (p.Glu277=)
c.123A>G (p.Glu41=)
n.287+10213T>C
2g.222232183T>GCA351112541PAX3c.687A>C (p.Glu229Asp)
n.501A>C
c.684A>C (p.Glu228Asp)
c.831A>C (p.Glu277Asp)
c.123A>C (p.Glu41Asp)
n.287+10213T>G
2g.222232184T>ACA351112546PAX3c.686A>T (p.Glu229Val)
n.500A>T
c.683A>T (p.Glu228Val)
c.830A>T (p.Glu277Val)
c.122A>T (p.Glu41Val)
n.287+10214T>A
2g.222232184T>CCA351112547PAX3c.686A>G (p.Glu229Gly)
n.500A>G
c.683A>G (p.Glu228Gly)
c.830A>G (p.Glu277Gly)
c.122A>G (p.Glu41Gly)
n.287+10214T>C
2g.222232184T>GCA351112548PAX3c.686A>C (p.Glu229Ala)
n.500A>C
c.683A>C (p.Glu228Ala)
c.830A>C (p.Glu277Ala)
c.122A>C (p.Glu41Ala)
n.287+10214T>G
2g.222232185C>ACA351112551PAX3c.685G>T (p.Glu229Ter)
n.499G>T
c.682G>T (p.Glu228Ter)
c.829G>T (p.Glu277Ter)
c.121G>T (p.Glu41Ter)
n.287+10215C>A
2g.222232185C=CA1330516241PAX3c.685G= (p.Glu229=)
n.499G=
c.682G= (p.Glu228=)
c.829G= (p.Glu277=)
c.121G= (p.Glu41=)
n.287+10215C=
2g.222232185C>GCA351112552PAX3c.685G>C (p.Glu229Gln)
n.499G>C
c.682G>C (p.Glu228Gln)
c.829G>C (p.Glu277Gln)
c.121G>C (p.Glu41Gln)
n.287+10215C>G
2g.222232185C>TCA351112553PAX3c.685G>A (p.Glu229Lys)
n.499G>A
c.682G>A (p.Glu228Lys)
c.829G>A (p.Glu277Lys)
c.121G>A (p.Glu41Lys)
n.287+10215C>T
 dbSNP gnomAD v2 gnomAD v4
2g.222232186T>ACA431575643PAX3c.684A>T (p.Ala228=)
n.498A>T
c.681A>T (p.Ala227=)
c.828A>T (p.Ala276=)
c.120A>T (p.Ala40=)
n.287+10216T>A
2g.222232186T>CCA431575644PAX3c.684A>G (p.Ala228=)
n.498A>G
c.681A>G (p.Ala227=)
c.828A>G (p.Ala276=)
c.120A>G (p.Ala40=)
n.287+10216T>C
2g.222232186T>GCA431575645PAX3c.684A>C (p.Ala228=)
n.498A>C
c.681A>C (p.Ala227=)
c.828A>C (p.Ala276=)
c.120A>C (p.Ala40=)
n.287+10216T>G
2g.222232187G>ACA2135600PAX3c.683C>T (p.Ala228Val)
n.497C>T
c.680C>T (p.Ala227Val)
c.827C>T (p.Ala276Val)
c.119C>T (p.Ala40Val)
n.287+10217G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222232187G>CCA351112555PAX3c.683C>G (p.Ala228Gly)
n.497C>G
c.680C>G (p.Ala227Gly)
c.827C>G (p.Ala276Gly)
c.119C>G (p.Ala40Gly)
n.287+10217G>C
2g.222232187G=CA1330516242PAX3c.683C= (p.Ala228=)
n.497C=
c.680C= (p.Ala227=)
c.827C= (p.Ala276=)
c.119C= (p.Ala40=)
n.287+10217G=
2g.222232187G>TCA351112558PAX3c.683C>A (p.Ala228Glu)
n.497C>A
c.680C>A (p.Ala227Glu)
c.827C>A (p.Ala276Glu)
c.119C>A (p.Ala40Glu)
n.287+10217G>T
2g.222232188C>ACA351112560PAX3c.682G>T (p.Ala228Ser)
n.496G>T
c.679G>T (p.Ala227Ser)
c.826G>T (p.Ala276Ser)
c.118G>T (p.Ala40Ser)
n.287+10218C>A
2g.222232188C>GCA351112561PAX3c.682G>C (p.Ala228Pro)
n.496G>C
c.679G>C (p.Ala227Pro)
c.826G>C (p.Ala276Pro)
c.118G>C (p.Ala40Pro)
n.287+10218C>G
2g.222232188C>TCA351112562PAX3c.682G>A (p.Ala228Thr)
n.496G>A
c.679G>A (p.Ala227Thr)
c.826G>A (p.Ala276Thr)
c.118G>A (p.Ala40Thr)
n.287+10218C>T
2g.222232189T>ACA431575646PAX3c.681A>T (p.Thr227=)
n.495A>T
c.678A>T (p.Thr226=)
c.825A>T (p.Thr275=)
c.117A>T (p.Thr39=)
n.287+10219T>A
2g.222232189T>CCA431575647PAX3c.681A>G (p.Thr227=)
n.495A>G
c.678A>G (p.Thr226=)
c.825A>G (p.Thr275=)
c.117A>G (p.Thr39=)
n.287+10219T>C
2g.222232189T>GCA431575648PAX3c.681A>C (p.Thr227=)
n.495A>C
c.678A>C (p.Thr226=)
c.825A>C (p.Thr275=)
c.117A>C (p.Thr39=)
n.287+10219T>G
2g.222232190G>ACA351112565PAX3c.680C>T (p.Thr227Ile)
n.494C>T
c.677C>T (p.Thr226Ile)
c.824C>T (p.Thr275Ile)
c.116C>T (p.Thr39Ile)
n.287+10220G>A
 gnomAD v4
2g.222232190G>CCA351112567PAX3c.680C>G (p.Thr227Arg)
n.494C>G
c.677C>G (p.Thr226Arg)
c.824C>G (p.Thr275Arg)
c.116C>G (p.Thr39Arg)
n.287+10220G>C
 dbSNP
2g.222232190G=CA1330516243PAX3c.680C= (p.Thr227=)
n.494C=
c.677C= (p.Thr226=)
c.824C= (p.Thr275=)
c.116C= (p.Thr39=)
n.287+10220G=
2g.222232190G>TCA351112563PAX3c.680C>A (p.Thr227Lys)
n.494C>A
c.677C>A (p.Thr226Lys)
c.824C>A (p.Thr275Lys)
c.116C>A (p.Thr39Lys)
n.287+10220G>T
2g.222232191T>ACA351112569PAX3c.679A>T (p.Thr227Ser)
n.493A>T
c.676A>T (p.Thr226Ser)
c.823A>T (p.Thr275Ser)
c.115A>T (p.Thr39Ser)
n.287+10221T>A
2g.222232191T>CCA351112571PAX3c.679A>G (p.Thr227Ala)
n.493A>G
c.676A>G (p.Thr226Ala)
c.823A>G (p.Thr275Ala)
c.115A>G (p.Thr39Ala)
n.287+10221T>C
2g.222232191T>GCA351112572PAX3c.679A>C (p.Thr227Pro)
n.493A>C
c.676A>C (p.Thr226Pro)
c.823A>C (p.Thr275Pro)
c.115A>C (p.Thr39Pro)
n.287+10221T>G
2g.222232192G>ACA431575649PAX3c.678C>T (p.Phe226=)
n.492C>T
c.675C>T (p.Phe225=)
c.822C>T (p.Phe274=)
c.114C>T (p.Phe38=)
n.287+10222G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222232192G>CCA351112575PAX3c.678C>G (p.Phe226Leu)
n.492C>G
c.675C>G (p.Phe225Leu)
c.822C>G (p.Phe274Leu)
c.114C>G (p.Phe38Leu)
n.287+10222G>C
2g.222232192G=CA1330516244PAX3c.678C= (p.Phe226=)
n.492C=
c.675C= (p.Phe225=)
c.822C= (p.Phe274=)
c.114C= (p.Phe38=)
n.287+10222G=
2g.222232192G>TCA351112577PAX3c.678C>A (p.Phe226Leu)
n.492C>A
c.675C>A (p.Phe225Leu)
c.822C>A (p.Phe274Leu)
c.114C>A (p.Phe38Leu)
n.287+10222G>T
2g.222232192_222232193delinsTTCA645523629PAX3c.677_678delinsAA (p.Phe226Ter)
n.491_492delinsAA
c.674_675delinsAA (p.Phe225Ter)
c.821_822delinsAA (p.Phe274Ter)
c.113_114delinsAA (p.Phe38Ter)
n.287+10222_287+10223delinsTT
 COSMIC COSMIC
2g.222232193A>CCA351112583PAX3c.677T>G (p.Phe226Cys)
n.491T>G
c.674T>G (p.Phe225Cys)
c.821T>G (p.Phe274Cys)
c.113T>G (p.Phe38Cys)
n.287+10223A>C
2g.222232193A>GCA351112580PAX3c.677T>C (p.Phe226Ser)
n.491T>C
c.674T>C (p.Phe225Ser)
c.821T>C (p.Phe274Ser)
c.113T>C (p.Phe38Ser)
n.287+10223A>G
2g.222232193A>TCA351112581PAX3c.677T>A (p.Phe226Tyr)
n.491T>A
c.674T>A (p.Phe225Tyr)
c.821T>A (p.Phe274Tyr)
c.113T>A (p.Phe38Tyr)
n.287+10223A>T
2g.222232194A>CCA351112585PAX3c.676T>G (p.Phe226Val)
n.490T>G
c.673T>G (p.Phe225Val)
c.820T>G (p.Phe274Val)
c.112T>G (p.Phe38Val)
n.287+10224A>C
2g.222232194A>GCA351112587PAX3c.676T>C (p.Phe226Leu)
n.490T>C
c.673T>C (p.Phe225Leu)
c.820T>C (p.Phe274Leu)
c.112T>C (p.Phe38Leu)
n.287+10224A>G
2g.222232194A>TCA351112588PAX3c.676T>A (p.Phe226Ile)
n.490T>A
c.673T>A (p.Phe225Ile)
c.820T>A (p.Phe274Ile)
c.112T>A (p.Phe38Ile)
n.287+10224A>T
2g.222232195G>ACA431575650PAX3c.675C>T (p.Thr225=)
n.489C>T
c.672C>T (p.Thr224=)
c.819C>T (p.Thr273=)
c.111C>T (p.Thr37=)
n.287+10225G>A
 gnomAD v4
2g.222232195G>CCA431575651PAX3c.675C>G (p.Thr225=)
n.489C>G
c.672C>G (p.Thr224=)
c.819C>G (p.Thr273=)
c.111C>G (p.Thr37=)
n.287+10225G>C
2g.222232195G=CA1330516245PAX3c.675C= (p.Thr225=)
n.489C=
c.672C= (p.Thr224=)
c.819C= (p.Thr273=)
c.111C= (p.Thr37=)
n.287+10225G=
2g.222232195G>TCA431575652PAX3c.675C>A (p.Thr225=)
n.489C>A
c.672C>A (p.Thr224=)
c.819C>A (p.Thr273=)
c.111C>A (p.Thr37=)
n.287+10225G>T
 dbSNP
2g.222232196G>ACA351112591PAX3c.674C>T (p.Thr225Ile)
n.488C>T
c.671C>T (p.Thr224Ile)
c.818C>T (p.Thr273Ile)
c.110C>T (p.Thr37Ile)
n.287+10226G>A
 dbSNP gnomAD v2 gnomAD v4
2g.222232196G>CCA351112592PAX3c.674C>G (p.Thr225Ser)
n.488C>G
c.671C>G (p.Thr224Ser)
c.818C>G (p.Thr273Ser)
c.110C>G (p.Thr37Ser)
n.287+10226G>C
2g.222232196G=CA1330516246PAX3c.674C= (p.Thr225=)
n.488C=
c.671C= (p.Thr224=)
c.818C= (p.Thr273=)
c.110C= (p.Thr37=)
n.287+10226G=
2g.222232196G>TCA351112594PAX3c.674C>A (p.Thr225Asn)
n.488C>A
c.671C>A (p.Thr224Asn)
c.818C>A (p.Thr273Asn)
c.110C>A (p.Thr37Asn)
n.287+10226G>T
2g.222232197T>ACA351112597PAX3c.673A>T (p.Thr225Ser)
n.487A>T
c.670A>T (p.Thr224Ser)
c.817A>T (p.Thr273Ser)
c.109A>T (p.Thr37Ser)
n.287+10227T>A
2g.222232197T>CCA351112599PAX3c.673A>G (p.Thr225Ala)
n.487A>G
c.670A>G (p.Thr224Ala)
c.817A>G (p.Thr273Ala)
c.109A>G (p.Thr37Ala)
n.287+10227T>C
2g.222232197T>GCA351112596PAX3c.673A>C (p.Thr225Pro)
n.487A>C
c.670A>C (p.Thr224Pro)
c.817A>C (p.Thr273Pro)
c.109A>C (p.Thr37Pro)
n.287+10227T>G
 gnomAD v4
2g.222232198G>ACA2135601PAX3c.672C>T (p.Thr224=)
n.486C>T
c.669C>T (p.Thr223=)
c.816C>T (p.Thr272=)
c.108C>T (p.Thr36=)
n.287+10228G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222232198G>CCA431575653PAX3c.672C>G (p.Thr224=)
n.486C>G
c.669C>G (p.Thr223=)
c.816C>G (p.Thr272=)
c.108C>G (p.Thr36=)
n.287+10228G>C
2g.222232198G=CA1330516247PAX3c.672C= (p.Thr224=)
n.486C=
c.669C= (p.Thr223=)
c.816C= (p.Thr272=)
c.108C= (p.Thr36=)
n.287+10228G=
2g.222232198G>TCA431575654PAX3c.672C>A (p.Thr224=)
n.486C>A
c.669C>A (p.Thr223=)
c.816C>A (p.Thr272=)
c.108C>A (p.Thr36=)
n.287+10228G>T
2g.222232199G>ACA351112603PAX3c.671C>T (p.Thr224Ile)
n.485C>T
c.668C>T (p.Thr223Ile)
c.815C>T (p.Thr272Ile)
c.107C>T (p.Thr36Ile)
n.287+10229G>A
 ClinVar dbSNP
2g.222232199G>CCA351112604PAX3c.671C>G (p.Thr224Ser)
n.485C>G
c.668C>G (p.Thr223Ser)
c.815C>G (p.Thr272Ser)
c.107C>G (p.Thr36Ser)
n.287+10229G>C
2g.222232199G=CA1330516248PAX3c.671C= (p.Thr224=)
n.485C=
c.668C= (p.Thr223=)
c.815C= (p.Thr272=)
c.107C= (p.Thr36=)
n.287+10229G=
2g.222232199G>TCA351112605PAX3c.671C>A (p.Thr224Asn)
n.485C>A
c.668C>A (p.Thr223Asn)
c.815C>A (p.Thr272Asn)
c.107C>A (p.Thr36Asn)
n.287+10229G>T
2g.222232200T>ACA351112608PAX3c.670A>T (p.Thr224Ser)
n.484A>T
c.667A>T (p.Thr223Ser)
c.814A>T (p.Thr272Ser)
c.106A>T (p.Thr36Ser)
n.287+10230T>A
2g.222232200T>CCA351112610PAX3c.670A>G (p.Thr224Ala)
n.484A>G
c.667A>G (p.Thr223Ala)
c.814A>G (p.Thr272Ala)
c.106A>G (p.Thr36Ala)
n.287+10230T>C
2g.222232200T>GCA351112611PAX3c.670A>C (p.Thr224Pro)
n.484A>C
c.667A>C (p.Thr223Pro)
c.814A>C (p.Thr272Pro)
c.106A>C (p.Thr36Pro)
n.287+10230T>G
2g.222232201T>ACA431575655PAX3c.669A>T (p.Arg223=)
n.483A>T
c.666A>T (p.Arg222=)
c.813A>T (p.Arg271=)
c.105A>T (p.Arg35=)
n.287+10231T>A
2g.222232201T>CCA431575656PAX3c.669A>G (p.Arg223=)
n.483A>G
c.666A>G (p.Arg222=)
c.813A>G (p.Arg271=)
c.105A>G (p.Arg35=)
n.287+10231T>C
2g.222232201T>GCA431575657PAX3c.669A>C (p.Arg223=)
n.483A>C
c.666A>C (p.Arg222=)
c.813A>C (p.Arg271=)
c.105A>C (p.Arg35=)
n.287+10231T>G
2g.222232202C>ACA351112613PAX3c.668G>T (p.Arg223Leu)
n.482G>T
c.665G>T (p.Arg222Leu)
c.812G>T (p.Arg271Leu)
c.104G>T (p.Arg35Leu)
n.287+10232C>A
 ClinVar
2g.222232202C=CA1330516249PAX3c.668G= (p.Arg223=)
n.482G=
c.665G= (p.Arg222=)
c.812G= (p.Arg271=)
c.104G= (p.Arg35=)
n.287+10232C=
2g.222232202C>GCA351112616PAX3c.668G>C (p.Arg223Pro)
n.482G>C
c.665G>C (p.Arg222Pro)
c.812G>C (p.Arg271Pro)
c.104G>C (p.Arg35Pro)
n.287+10232C>G
2g.222232202C>TCA10576591PAX3c.668G>A (p.Arg223Gln)
n.482G>A
c.665G>A (p.Arg222Gln)
c.812G>A (p.Arg271Gln)
c.104G>A (p.Arg35Gln)
n.287+10232C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.222232203G>ACA2135602PAX3c.667C>T (p.Arg223Ter)
n.481C>T
c.664C>T (p.Arg222Ter)
c.811C>T (p.Arg271Ter)
c.103C>T (p.Arg35Ter)
n.287+10233G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.222232203G>CCA351112618PAX3c.667C>G (p.Arg223Gly)
n.481C>G
c.664C>G (p.Arg222Gly)
c.811C>G (p.Arg271Gly)
c.103C>G (p.Arg35Gly)
n.287+10233G>C
2g.222232203G=CA1330516250PAX3c.667C= (p.Arg223=)
n.481C=
c.664C= (p.Arg222=)
c.811C= (p.Arg271=)
c.103C= (p.Arg35=)
n.287+10233G=
2g.222232203G>TCA431575658PAX3c.667C>A (p.Arg223=)
n.481C>A
c.664C>A (p.Arg222=)
c.811C>A (p.Arg271=)
c.103C>A (p.Arg35=)
n.287+10233G>T
2g.222232204G>ACA431575659PAX3c.666C>T (p.Ser222=)
n.480C>T
c.663C>T (p.Ser221=)
c.810C>T (p.Ser270=)
c.102C>T (p.Ser34=)
n.287+10234G>A
 dbSNP gnomAD v4
2g.222232204G>CCA351112620PAX3c.666C>G (p.Ser222Arg)
n.480C>G
c.663C>G (p.Ser221Arg)
c.810C>G (p.Ser270Arg)
c.102C>G (p.Ser34Arg)
n.287+10234G>C
2g.222232204G=CA1330516251PAX3c.666C= (p.Ser222=)
n.480C=
c.663C= (p.Ser221=)
c.810C= (p.Ser270=)
c.102C= (p.Ser34=)
n.287+10234G=
2g.222232204G>TCA351112622PAX3c.666C>A (p.Ser222Arg)
n.480C>A
c.663C>A (p.Ser221Arg)
c.810C>A (p.Ser270Arg)
c.102C>A (p.Ser34Arg)
n.287+10234G>T
2g.222232205C>ACA351112626PAX3c.665G>T (p.Ser222Ile)
n.479G>T
c.662G>T (p.Ser221Ile)
c.809G>T (p.Ser270Ile)
c.101G>T (p.Ser34Ile)
n.287+10235C>A
2g.222232205C>GCA351112624PAX3c.665G>C (p.Ser222Thr)
n.479G>C
c.662G>C (p.Ser221Thr)
c.809G>C (p.Ser270Thr)
c.101G>C (p.Ser34Thr)
n.287+10235C>G
2g.222232205C>TCA351112625PAX3c.665G>A (p.Ser222Asn)
n.479G>A
c.662G>A (p.Ser221Asn)
c.809G>A (p.Ser270Asn)
c.101G>A (p.Ser34Asn)
n.287+10235C>T
2g.222232206T>ACA351112629PAX3c.664A>T (p.Ser222Cys)
n.478A>T
c.661A>T (p.Ser221Cys)
c.808A>T (p.Ser270Cys)
c.100A>T (p.Ser34Cys)
n.287+10236T>A
2g.222232206T>CCA351112631PAX3c.664A>G (p.Ser222Gly)
n.478A>G
c.661A>G (p.Ser221Gly)
c.808A>G (p.Ser270Gly)
c.100A>G (p.Ser34Gly)
n.287+10236T>C
2g.222232206T>GCA351112632PAX3c.664A>C (p.Ser222Arg)
n.478A>C
c.661A>C (p.Ser221Arg)
c.808A>C (p.Ser270Arg)
c.100A>C (p.Ser34Arg)
n.287+10236T>G
2g.222232207T>ACA351112634PAX3c.663A>T (p.Arg221Ser)
n.477A>T
c.660A>T (p.Arg220Ser)
c.807A>T (p.Arg269Ser)
c.99A>T (p.Arg33Ser)
n.287+10237T>A
2g.222232207T>CCA431575660PAX3c.663A>G (p.Arg221=)
n.477A>G
c.660A>G (p.Arg220=)
c.807A>G (p.Arg269=)
c.99A>G (p.Arg33=)
n.287+10237T>C
2g.222232207T>GCA351112636PAX3c.663A>C (p.Arg221Ser)
n.477A>C
c.660A>C (p.Arg220Ser)
c.807A>C (p.Arg269Ser)
c.99A>C (p.Arg33Ser)
n.287+10237T>G
2g.222232208C>ACA351112637PAX3c.662G>T (p.Arg221Ile)
n.476G>T
c.659G>T (p.Arg220Ile)
c.806G>T (p.Arg269Ile)
c.98G>T (p.Arg33Ile)
n.287+10238C>A
2g.222232208C>GCA351112638PAX3c.662G>C (p.Arg221Thr)
n.476G>C
c.659G>C (p.Arg220Thr)
c.806G>C (p.Arg269Thr)
c.98G>C (p.Arg33Thr)
n.287+10238C>G
2g.222232208C>TCA351112639PAX3c.662G>A (p.Arg221Lys)
n.476G>A
c.659G>A (p.Arg220Lys)
c.806G>A (p.Arg269Lys)
c.98G>A (p.Arg33Lys)
n.287+10238C>T
2g.222232209T>ACA351112642PAX3c.661A>T (p.Arg221Ter)
n.475A>T
c.658A>T (p.Arg220Ter)
c.805A>T (p.Arg269Ter)
c.97A>T (p.Arg33Ter)
n.287+10239T>A
2g.222232209T>CCA351112643PAX3c.661A>G (p.Arg221Gly)
n.475A>G
c.658A>G (p.Arg220Gly)
c.805A>G (p.Arg269Gly)
c.97A>G (p.Arg33Gly)
n.287+10239T>C
2g.222232209T>GCA431575661PAX3c.661A>C (p.Arg221=)
n.475A>C
c.658A>C (p.Arg220=)
c.805A>C (p.Arg269=)
c.97A>C (p.Arg33=)
n.287+10239T>G
2g.222232210G>ACA431575663PAX3c.660C>T (p.Arg220=)
n.474C>T
c.657C>T (p.Arg219=)
c.804C>T (p.Arg268=)
c.96C>T (p.Arg32=)
n.287+10240G>A
2g.222232210G>CCA431575662PAX3c.660C>G (p.Arg220=)
n.474C>G
c.657C>G (p.Arg219=)
c.804C>G (p.Arg268=)
c.96C>G (p.Arg32=)
n.287+10240G>C
2g.222232210G>TCA431575664PAX3c.660C>A (p.Arg220=)
n.474C>A
c.657C>A (p.Arg219=)
c.804C>A (p.Arg268=)
c.96C>A (p.Arg32=)
n.287+10240G>T
2g.222232211C>ACA351112646PAX3c.659G>T (p.Arg220Leu)
n.473G>T
c.656G>T (p.Arg219Leu)
c.803G>T (p.Arg268Leu)
c.95G>T (p.Arg32Leu)
n.287+10241C>A
2g.222232211C>GCA351112648PAX3c.659G>C (p.Arg220Pro)
n.473G>C
c.656G>C (p.Arg219Pro)
c.803G>C (p.Arg268Pro)
c.95G>C (p.Arg32Pro)
n.287+10241C>G
2g.222232211C>TCA351112650PAX3c.659G>A (p.Arg220His)
n.473G>A
c.656G>A (p.Arg219His)
c.803G>A (p.Arg268His)
c.95G>A (p.Arg32His)
n.287+10241C>T
 ClinVar gnomAD v4 COSMIC COSMIC
2g.222232212G>ACA66333344PAX3c.658C>T (p.Arg220Cys)
n.472C>T
c.655C>T (p.Arg219Cys)
c.802C>T (p.Arg268Cys)
c.94C>T (p.Arg32Cys)
n.287+10242G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.222232212G>CCA351112651PAX3c.658C>G (p.Arg220Gly)
n.472C>G
c.655C>G (p.Arg219Gly)
c.802C>G (p.Arg268Gly)
c.94C>G (p.Arg32Gly)
n.287+10242G>C
2g.222232212G=CA1330516252PAX3c.658C= (p.Arg220=)
n.472C=
c.655C= (p.Arg219=)
c.802C= (p.Arg268=)
c.94C= (p.Arg32=)
n.287+10242G=
2g.222232212G>TCA351112653PAX3c.658C>A (p.Arg220Ser)
n.472C>A
c.655C>A (p.Arg219Ser)
c.802C>A (p.Arg268Ser)
c.94C>A (p.Arg32Ser)
n.287+10242G>T
 ClinVar dbSNP
2g.222232213C>ACA351112656PAX3c.657G>T (p.Gln219His)
n.471G>T
c.654G>T (p.Gln218His)
c.801G>T (p.Gln267His)
c.93G>T (p.Gln31His)
n.287+10243C>A
2g.222232213C>GCA351112658PAX3c.657G>C (p.Gln219His)
n.471G>C
c.654G>C (p.Gln218His)
c.801G>C (p.Gln267His)
c.93G>C (p.Gln31His)
n.287+10243C>G
2g.222232213C>TCA431575665PAX3c.657G>A (p.Gln219=)
n.471G>A
c.654G>A (p.Gln218=)
c.801G>A (p.Gln267=)
c.93G>A (p.Gln31=)
n.287+10243C>T
2g.222232214T>ACA351112661PAX3c.656A>T (p.Gln219Leu)
n.470A>T
c.653A>T (p.Gln218Leu)
c.800A>T (p.Gln267Leu)
c.92A>T (p.Gln31Leu)
n.287+10244T>A
2g.222232214T>CCA351112662PAX3c.656A>G (p.Gln219Arg)
n.470A>G
c.653A>G (p.Gln218Arg)
c.800A>G (p.Gln267Arg)
c.92A>G (p.Gln31Arg)
n.287+10244T>C
2g.222232214T>GCA351112663PAX3c.656A>C (p.Gln219Pro)
n.470A>C
c.653A>C (p.Gln218Pro)
c.800A>C (p.Gln267Pro)
c.92A>C (p.Gln31Pro)
n.287+10244T>G
2g.222232215G>ACA351112666PAX3c.655C>T (p.Gln219Ter)
n.469C>T
c.652C>T (p.Gln218Ter)
c.799C>T (p.Gln267Ter)
c.91C>T (p.Gln31Ter)
n.287+10245G>A
2g.222232215G>CCA351112667PAX3c.655C>G (p.Gln219Glu)
n.469C>G
c.652C>G (p.Gln218Glu)
c.799C>G (p.Gln267Glu)
c.91C>G (p.Gln31Glu)
n.287+10245G>C
 dbSNP
2g.222232215G=CA1330516253PAX3c.655C= (p.Gln219=)
n.469C=
c.652C= (p.Gln218=)
c.799C= (p.Gln267=)
c.91C= (p.Gln31=)
n.287+10245G=
2g.222232215G>TCA351112669PAX3c.655C>A (p.Gln219Lys)
n.469C>A
c.652C>A (p.Gln218Lys)
c.799C>A (p.Gln267Lys)
c.91C>A (p.Gln31Lys)
n.287+10245G>T
2g.222232216T>ACA351112672PAX3c.654A>T (p.Lys218Asn)
n.468A>T
c.651A>T (p.Lys217Asn)
c.798A>T (p.Lys266Asn)
c.90A>T (p.Lys30Asn)
n.287+10246T>A
2g.222232216T>CCA431575666PAX3c.654A>G (p.Lys218=)
n.468A>G
c.651A>G (p.Lys217=)
c.798A>G (p.Lys266=)
c.90A>G (p.Lys30=)
n.287+10246T>C
2g.222232216T>GCA351112674PAX3c.654A>C (p.Lys218Asn)
n.468A>C
c.651A>C (p.Lys217Asn)
c.798A>C (p.Lys266Asn)
c.90A>C (p.Lys30Asn)
n.287+10246T>G
2g.222232217T>ACA351112676PAX3c.653A>T (p.Lys218Ile)
n.467A>T
c.650A>T (p.Lys217Ile)
c.797A>T (p.Lys266Ile)
c.89A>T (p.Lys30Ile)
n.287+10247T>A
2g.222232217T>CCA351112678PAX3c.653A>G (p.Lys218Arg)
n.467A>G
c.650A>G (p.Lys217Arg)
c.797A>G (p.Lys266Arg)
c.89A>G (p.Lys30Arg)
n.287+10247T>C
2g.222232217T>GCA351112680PAX3c.653A>C (p.Lys218Thr)
n.467A>C
c.650A>C (p.Lys217Thr)
c.797A>C (p.Lys266Thr)
c.89A>C (p.Lys30Thr)
n.287+10247T>G
2g.222232218T>ACA351112687PAX3c.652A>T (p.Lys218Ter)
n.466A>T
c.649A>T (p.Lys217Ter)
c.796A>T (p.Lys266Ter)
c.88A>T (p.Lys30Ter)
n.287+10248T>A
2g.222232218T>CCA351112685PAX3c.652A>G (p.Lys218Glu)
n.466A>G
c.649A>G (p.Lys217Glu)
c.796A>G (p.Lys266Glu)
c.88A>G (p.Lys30Glu)
n.287+10248T>C
2g.222232218T>GCA351112683PAX3c.652A>C (p.Lys218Gln)
n.466A>C
c.649A>C (p.Lys217Gln)
c.796A>C (p.Lys266Gln)
c.88A>C (p.Lys30Gln)
n.287+10248T>G
 dbSNP
2g.222232218T=CA1330516254PAX3c.652A= (p.Lys218=)
n.466A=
c.649A= (p.Lys217=)
c.796A= (p.Lys266=)
c.88A= (p.Lys30=)
n.287+10248T=
2g.222232219C>ACA351112689PAX3c.651G>T (p.Arg217Ser)
n.465G>T
c.648G>T (p.Arg216Ser)
c.795G>T (p.Arg265Ser)
c.87G>T (p.Arg29Ser)
n.287+10249C>A
2g.222232219C>GCA351112690PAX3c.651G>C (p.Arg217Ser)
n.465G>C
c.648G>C (p.Arg216Ser)
c.795G>C (p.Arg265Ser)
c.87G>C (p.Arg29Ser)
n.287+10249C>G
2g.222232219C>TCA431575667PAX3c.651G>A (p.Arg217=)
n.465G>A
c.648G>A (p.Arg216=)
c.795G>A (p.Arg265=)
c.87G>A (p.Arg29=)
n.287+10249C>T
2g.222232220C>ACA351112692PAX3c.650G>T (p.Arg217Met)
n.464G>T
c.647G>T (p.Arg216Met)
c.794G>T (p.Arg265Met)
c.86G>T (p.Arg29Met)
n.287+10250C>A
2g.222232220C=CA1330516255PAX3c.650G= (p.Arg217=)
n.464G=
c.647G= (p.Arg216=)
c.794G= (p.Arg265=)
c.86G= (p.Arg29=)
n.287+10250C=
2g.222232220C>GCA351112694PAX3c.650G>C (p.Arg217Thr)
n.464G>C
c.647G>C (p.Arg216Thr)
c.794G>C (p.Arg265Thr)
c.86G>C (p.Arg29Thr)
n.287+10250C>G
2g.222232220C>TCA351112696PAX3c.650G>A (p.Arg217Lys)
n.464G>A
c.647G>A (p.Arg216Lys)
c.794G>A (p.Arg265Lys)
c.86G>A (p.Arg29Lys)
n.287+10250C>T
 dbSNP gnomAD v4
2g.222232221T>ACA351112698PAX3c.649A>T (p.Arg217Trp)
n.463A>T
c.646A>T (p.Arg216Trp)
c.793A>T (p.Arg265Trp)
c.85A>T (p.Arg29Trp)
n.287+10251T>A
2g.222232221T>CCA351112700PAX3c.649A>G (p.Arg217Gly)
n.463A>G
c.646A>G (p.Arg216Gly)
c.793A>G (p.Arg265Gly)
c.85A>G (p.Arg29Gly)
n.287+10251T>C
2g.222232221T>GCA431575668PAX3c.649A>C (p.Arg217=)
n.463A>C
c.646A>C (p.Arg216=)
c.793A>C (p.Arg265=)
c.85A>C (p.Arg29=)
n.287+10251T>G
2g.222232222C>ACA351112701PAX3c.648G>T (p.Lys216Asn)
n.462G>T
c.645G>T (p.Lys215Asn)
c.792G>T (p.Lys264Asn)
c.84G>T (p.Lys28Asn)
n.287+10252C>A
2g.222232222C=CA1330516256PAX3c.648G= (p.Lys216=)
n.462G=
c.645G= (p.Lys215=)
c.792G= (p.Lys264=)
c.84G= (p.Lys28=)
n.287+10252C=
2g.222232222C>GCA351112702PAX3c.648G>C (p.Lys216Asn)
n.462G>C
c.645G>C (p.Lys215Asn)
c.792G>C (p.Lys264Asn)
c.84G>C (p.Lys28Asn)
n.287+10252C>G
2g.222232222C>TCA2135603PAX3c.648G>A (p.Lys216=)
n.462G>A
c.645G>A (p.Lys215=)
c.792G>A (p.Lys264=)
c.84G>A (p.Lys28=)
n.287+10252C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222232223T>ACA351112706PAX3c.647A>T (p.Lys216Met)
n.461A>T
c.644A>T (p.Lys215Met)
c.791A>T (p.Lys264Met)
c.83A>T (p.Lys28Met)
n.287+10253T>A
2g.222232223T>CCA351112707PAX3c.647A>G (p.Lys216Arg)
n.461A>G
c.644A>G (p.Lys215Arg)
c.791A>G (p.Lys264Arg)
c.83A>G (p.Lys28Arg)
n.287+10253T>C
2g.222232223T>GCA351112709PAX3c.647A>C (p.Lys216Thr)
n.461A>C
c.644A>C (p.Lys215Thr)
c.791A>C (p.Lys264Thr)
c.83A>C (p.Lys28Thr)
n.287+10253T>G
2g.222232224T>ACA351112714PAX3c.646A>T (p.Lys216Ter)
n.460A>T
c.643A>T (p.Lys215Ter)
c.790A>T (p.Lys264Ter)
c.82A>T (p.Lys28Ter)
n.287+10254T>A
2g.222232224T>CCA351112713PAX3c.646A>G (p.Lys216Glu)
n.460A>G
c.643A>G (p.Lys215Glu)
c.790A>G (p.Lys264Glu)
c.82A>G (p.Lys28Glu)
n.287+10254T>C
2g.222232224T>GCA351112711PAX3c.646A>C (p.Lys216Gln)
n.460A>C
c.643A>C (p.Lys215Gln)
c.790A>C (p.Lys264Gln)
c.82A>C (p.Lys28Gln)
n.287+10254T>G
2g.222232225T>ACA431575669PAX3c.645A>T (p.Leu215=)
n.459A>T
c.642A>T (p.Leu214=)
c.789A>T (p.Leu263=)
c.81A>T (p.Leu27=)
n.287+10255T>A
2g.222232225T>CCA431575670PAX3c.645A>G (p.Leu215=)
n.459A>G
c.642A>G (p.Leu214=)
c.789A>G (p.Leu263=)
c.81A>G (p.Leu27=)
n.287+10255T>C
 gnomAD v4
2g.222232225T>GCA431575671PAX3c.645A>C (p.Leu215=)
n.459A>C
c.642A>C (p.Leu214=)
c.789A>C (p.Leu263=)
c.81A>C (p.Leu27=)
n.287+10255T>G
2g.222232226A=CA1330516257PAX3c.644T= (p.Leu215=)
n.458T=
c.641T= (p.Leu214=)
c.788T= (p.Leu263=)
c.80T= (p.Leu27=)
n.287+10256A=
2g.222232226A>CCA351112716PAX3c.644T>G (p.Leu215Arg)
n.458T>G
c.641T>G (p.Leu214Arg)
c.788T>G (p.Leu263Arg)
c.80T>G (p.Leu27Arg)
n.287+10256A>C
 gnomAD v4
2g.222232226A>GCA351112718PAX3c.644T>C (p.Leu215Pro)
n.458T>C
c.641T>C (p.Leu214Pro)
c.788T>C (p.Leu263Pro)
c.80T>C (p.Leu27Pro)
n.287+10256A>G
 dbSNP gnomAD v4
2g.222232226A>TCA351112719PAX3c.644T>A (p.Leu215Gln)
n.458T>A
c.641T>A (p.Leu214Gln)
c.788T>A (p.Leu263Gln)
c.80T>A (p.Leu27Gln)
n.287+10256A>T
2g.222232227G>ACA431575672PAX3c.643C>T (p.Leu215=)
n.457C>T
c.640C>T (p.Leu214=)
c.787C>T (p.Leu263=)
c.79C>T (p.Leu27=)
n.287+10257G>A
 gnomAD v4
2g.222232227G>CCA351112722PAX3c.643C>G (p.Leu215Val)
n.457C>G
c.640C>G (p.Leu214Val)
c.787C>G (p.Leu263Val)
c.79C>G (p.Leu27Val)
n.287+10257G>C
 gnomAD v4
2g.222232227G>TCA351112724PAX3c.643C>A (p.Leu215Ile)
n.457C>A
c.640C>A (p.Leu214Ile)
c.787C>A (p.Leu263Ile)
c.79C>A (p.Leu27Ile)
n.287+10257G>T
2g.222232228T>ACA431575673PAX3c.642A>T (p.Pro214=)
n.456A>T
c.639A>T (p.Pro213=)
c.786A>T (p.Pro262=)
c.78A>T (p.Pro26=)
n.287+10258T>A
2g.222232228T>CCA431575674PAX3c.642A>G (p.Pro214=)
n.456A>G
c.639A>G (p.Pro213=)
c.786A>G (p.Pro262=)
c.78A>G (p.Pro26=)
n.287+10258T>C
 dbSNP gnomAD v2 gnomAD v4
2g.222232228T>GCA431575675PAX3c.642A>C (p.Pro214=)
n.456A>C
c.639A>C (p.Pro213=)
c.786A>C (p.Pro262=)
c.78A>C (p.Pro26=)
n.287+10258T>G
2g.222232228T=CA1330516258PAX3c.642A= (p.Pro214=)
n.456A=
c.639A= (p.Pro213=)
c.786A= (p.Pro262=)
c.78A= (p.Pro26=)
n.287+10258T=
2g.222232229G>ACA351112726PAX3c.641C>T (p.Pro214Leu)
n.455C>T
c.638C>T (p.Pro213Leu)
c.785C>T (p.Pro262Leu)
c.77C>T (p.Pro26Leu)
n.287+10259G>A
 gnomAD v4
2g.222232229G>CCA351112727PAX3c.641C>G (p.Pro214Arg)
n.455C>G
c.638C>G (p.Pro213Arg)
c.785C>G (p.Pro262Arg)
c.77C>G (p.Pro26Arg)
n.287+10259G>C
2g.222232229G>TCA351112729PAX3c.641C>A (p.Pro214Gln)
n.455C>A
c.638C>A (p.Pro213Gln)
c.785C>A (p.Pro262Gln)
c.77C>A (p.Pro26Gln)
n.287+10259G>T
2g.222232230G>ACA351112731PAX3c.640C>T (p.Pro214Ser)
n.454C>T
c.637C>T (p.Pro213Ser)
c.784C>T (p.Pro262Ser)
c.76C>T (p.Pro26Ser)
n.287+10260G>A
2g.222232230G>CCA351112733PAX3c.640C>G (p.Pro214Ala)
n.454C>G
c.637C>G (p.Pro213Ala)
c.784C>G (p.Pro262Ala)
c.76C>G (p.Pro26Ala)
n.287+10260G>C
2g.222232230G>TCA351112734PAX3c.640C>A (p.Pro214Thr)
n.454C>A
c.637C>A (p.Pro213Thr)
c.784C>A (p.Pro262Thr)
c.76C>A (p.Pro26Thr)
n.287+10260G>T
2g.222232231T>ACA351112736PAX3c.639A>T (p.Leu213Phe)
n.453A>T
c.636A>T (p.Leu212Phe)
c.783A>T (p.Leu261Phe)
c.75A>T (p.Leu25Phe)
n.287+10261T>A
2g.222232231T>CCA431575676PAX3c.639A>G (p.Leu213=)
n.453A>G
c.636A>G (p.Leu212=)
c.783A>G (p.Leu261=)
c.75A>G (p.Leu25=)
n.287+10261T>C
2g.222232231T>GCA351112738PAX3c.639A>C (p.Leu213Phe)
n.453A>C
c.636A>C (p.Leu212Phe)
c.783A>C (p.Leu261Phe)
c.75A>C (p.Leu25Phe)
n.287+10261T>G
2g.222232232A>CCA351112743PAX3c.638T>G (p.Leu213Ter)
n.452T>G
c.635T>G (p.Leu212Ter)
c.782T>G (p.Leu261Ter)
c.74T>G (p.Leu25Ter)
n.287+10262A>C
2g.222232232A>GCA351112742PAX3c.638T>C (p.Leu213Ser)
n.452T>C
c.635T>C (p.Leu212Ser)
c.782T>C (p.Leu261Ser)
c.74T>C (p.Leu25Ser)
n.287+10262A>G
 gnomAD v4
2g.222232232A>TCA351112741PAX3c.638T>A (p.Leu213Ter)
n.452T>A
c.635T>A (p.Leu212Ter)
c.782T>A (p.Leu261Ter)
c.74T>A (p.Leu25Ter)
n.287+10262A>T
2g.222232233A=CA1330516259PAX3c.637T= (p.Leu213=)
n.451T=
c.634T= (p.Leu212=)
c.781T= (p.Leu261=)
c.73T= (p.Leu25=)
n.287+10263A=
2g.222232233A>CCA351112746PAX3c.637T>G (p.Leu213Val)
n.451T>G
c.634T>G (p.Leu212Val)
c.781T>G (p.Leu261Val)
c.73T>G (p.Leu25Val)
n.287+10263A>C
2g.222232233A>GCA431575677PAX3c.637T>C (p.Leu213=)
n.451T>C
c.634T>C (p.Leu212=)
c.781T>C (p.Leu261=)
c.73T>C (p.Leu25=)
n.287+10263A>G
2g.222232233A>TCA351112748PAX3c.637T>A (p.Leu213Ile)
n.451T>A
c.634T>A (p.Leu212Ile)
c.781T>A (p.Leu261Ile)
c.73T>A (p.Leu25Ile)
n.287+10263A>T
 dbSNP
2g.222232234A>CCA351112750PAX3c.636T>G (p.Asp212Glu)
n.450T>G
c.633T>G (p.Asp211Glu)
c.780T>G (p.Asp260Glu)
c.72T>G (p.Asp24Glu)
n.287+10264A>C
2g.222232234A>GCA431575678PAX3c.636T>C (p.Asp212=)
n.450T>C
c.633T>C (p.Asp211=)
c.780T>C (p.Asp260=)
c.72T>C (p.Asp24=)
n.287+10264A>G
2g.222232234A>TCA351112752PAX3c.636T>A (p.Asp212Glu)
n.450T>A
c.633T>A (p.Asp211Glu)
c.780T>A (p.Asp260Glu)
c.72T>A (p.Asp24Glu)
n.287+10264A>T
2g.222232235T>ACA351112754PAX3c.635A>T (p.Asp212Val)
n.449A>T
c.632A>T (p.Asp211Val)
c.779A>T (p.Asp260Val)
c.71A>T (p.Asp24Val)
n.287+10265T>A
2g.222232235T>CCA351112756PAX3c.635A>G (p.Asp212Gly)
n.449A>G
c.632A>G (p.Asp211Gly)
c.779A>G (p.Asp260Gly)
c.71A>G (p.Asp24Gly)
n.287+10265T>C
 gnomAD v4
2g.222232235T>GCA351112758PAX3c.635A>C (p.Asp212Ala)
n.449A>C
c.632A>C (p.Asp211Ala)
c.779A>C (p.Asp260Ala)
c.71A>C (p.Asp24Ala)
n.287+10265T>G
2g.222232236C>ACA351112760PAX3c.634G>T (p.Asp212Tyr)
n.448G>T
c.631G>T (p.Asp211Tyr)
c.778G>T (p.Asp260Tyr)
c.70G>T (p.Asp24Tyr)
n.287+10266C>A
2g.222232236C>GCA351112761PAX3c.634G>C (p.Asp212His)
n.448G>C
c.631G>C (p.Asp211His)
c.778G>C (p.Asp260His)
c.70G>C (p.Asp24His)
n.287+10266C>G
2g.222232236C>TCA351112763PAX3c.634G>A (p.Asp212Asn)
n.448G>A
c.631G>A (p.Asp211Asn)
c.778G>A (p.Asp260Asn)
c.70G>A (p.Asp24Asn)
n.287+10266C>T
2g.222232237T>ACA431575679PAX3c.633A>T (p.Pro211=)
n.447A>T
c.630A>T (p.Pro210=)
c.777A>T (p.Pro259=)
c.69A>T (p.Pro23=)
n.287+10267T>A
 gnomAD v4
2g.222232237T>CCA2135604PAX3c.633A>G (p.Pro211=)
n.447A>G
c.630A>G (p.Pro210=)
c.777A>G (p.Pro259=)
c.69A>G (p.Pro23=)
n.287+10267T>C
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.222232237T>GCA431575680PAX3c.633A>C (p.Pro211=)
n.447A>C
c.630A>C (p.Pro210=)
c.777A>C (p.Pro259=)
c.69A>C (p.Pro23=)
n.287+10267T>G
2g.222232237T=CA1330516260PAX3c.633A= (p.Pro211=)
n.447A=
c.630A= (p.Pro210=)
c.777A= (p.Pro259=)
c.69A= (p.Pro23=)
n.287+10267T=
2g.222232238G>ACA351112766PAX3c.632C>T (p.Pro211Leu)
n.446C>T
c.629C>T (p.Pro210Leu)
c.776C>T (p.Pro259Leu)
c.68C>T (p.Pro23Leu)
n.287+10268G>A
2g.222232238G>CCA351112768PAX3c.632C>G (p.Pro211Arg)
n.446C>G
c.629C>G (p.Pro210Arg)
c.776C>G (p.Pro259Arg)
c.68C>G (p.Pro23Arg)
n.287+10268G>C
2g.222232238G>TCA351112769PAX3c.632C>A (p.Pro211Gln)
n.446C>A
c.629C>A (p.Pro210Gln)
c.776C>A (p.Pro259Gln)
c.68C>A (p.Pro23Gln)
n.287+10268G>T
2g.222232239G>ACA351112775PAX3c.631C>T (p.Pro211Ser)
n.445C>T
c.628C>T (p.Pro210Ser)
c.775C>T (p.Pro259Ser)
c.67C>T (p.Pro23Ser)
n.287+10269G>A
 gnomAD v4
2g.222232239G>CCA351112773PAX3c.631C>G (p.Pro211Ala)
n.445C>G
c.628C>G (p.Pro210Ala)
c.775C>G (p.Pro259Ala)
c.67C>G (p.Pro23Ala)
n.287+10269G>C
2g.222232239G>TCA351112772PAX3c.631C>A (p.Pro211Thr)
n.445C>A
c.628C>A (p.Pro210Thr)
c.775C>A (p.Pro259Thr)
c.67C>A (p.Pro23Thr)
n.287+10269G>T
2g.222232240T>ACA351112777PAX3c.630A>T (p.Glu210Asp)
n.444A>T
c.627A>T (p.Glu209Asp)
c.774A>T (p.Glu258Asp)
c.66A>T (p.Glu22Asp)
n.287+10270T>A
2g.222232240T>CCA431575681PAX3c.630A>G (p.Glu210=)
n.444A>G
c.627A>G (p.Glu209=)
c.774A>G (p.Glu258=)
c.66A>G (p.Glu22=)
n.287+10270T>C
2g.222232240T>GCA351112779PAX3c.630A>C (p.Glu210Asp)
n.444A>C
c.627A>C (p.Glu209Asp)
c.774A>C (p.Glu258Asp)
c.66A>C (p.Glu22Asp)
n.287+10270T>G
2g.222232241T>ACA351112781PAX3c.629A>T (p.Glu210Val)
n.443A>T
c.626A>T (p.Glu209Val)
c.773A>T (p.Glu258Val)
c.65A>T (p.Glu22Val)
n.287+10271T>A
2g.222232241T>CCA351112786PAX3c.629A>G (p.Glu210Gly)
n.443A>G
c.626A>G (p.Glu209Gly)
c.773A>G (p.Glu258Gly)
c.65A>G (p.Glu22Gly)
n.287+10271T>C
2g.222232241T>GCA351112787PAX3c.629A>C (p.Glu210Ala)
n.443A>C
c.626A>C (p.Glu209Ala)
c.773A>C (p.Glu258Ala)
c.65A>C (p.Glu22Ala)
n.287+10271T>G
2g.222232242C>ACA351112790PAX3c.628G>T (p.Glu210Ter)
n.442G>T
c.625G>T (p.Glu209Ter)
c.772G>T (p.Glu258Ter)
c.64G>T (p.Glu22Ter)
n.287+10272C>A
2g.222232242C>GCA351112792PAX3c.628G>C (p.Glu210Gln)
n.442G>C
c.625G>C (p.Glu209Gln)
c.772G>C (p.Glu258Gln)
c.64G>C (p.Glu22Gln)
n.287+10272C>G
2g.222232242C>TCA351112794PAX3c.628G>A (p.Glu210Lys)
n.442G>A
c.625G>A (p.Glu209Lys)
c.772G>A (p.Glu258Lys)
c.64G>A (p.Glu22Lys)
n.287+10272C>T
2g.222232243A=CA1330516261PAX3c.627T= (p.Ser209=)
n.441T=
c.624T= (p.Ser208=)
c.771T= (p.Ser257=)
c.63T= (p.Ser21=)
n.287+10273A=
2g.222232243A>CCA2135605PAX3c.627T>G (p.Ser209=)
n.441T>G
c.624T>G (p.Ser208=)
c.771T>G (p.Ser257=)
c.63T>G (p.Ser21=)
n.287+10273A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222232243A>GCA431575682PAX3c.627T>C (p.Ser209=)
n.441T>C
c.624T>C (p.Ser208=)
c.771T>C (p.Ser257=)
c.63T>C (p.Ser21=)
n.287+10273A>G
 dbSNP
2g.222232243A>TCA431575683PAX3c.627T>A (p.Ser209=)
n.441T>A
c.624T>A (p.Ser208=)
c.771T>A (p.Ser257=)
c.63T>A (p.Ser21=)
n.287+10273A>T
2g.222232245_222232246delCA2586971446PAX3c.626_627del (p.Ser209Ter)
n.440_441del
c.623_624del (p.Ser208Ter)
c.770_771del (p.Ser257Ter)
c.62_63del (p.Ser21Ter)
n.287+10275_287+10276del
2g.222232244G>ACA351112798PAX3c.626C>T (p.Ser209Phe)
n.440C>T
c.623C>T (p.Ser208Phe)
c.770C>T (p.Ser257Phe)
c.62C>T (p.Ser21Phe)
n.287+10274G>A
 gnomAD v4
2g.222232244G>CCA351112800PAX3c.626C>G (p.Ser209Cys)
n.440C>G
c.623C>G (p.Ser208Cys)
c.770C>G (p.Ser257Cys)
c.62C>G (p.Ser21Cys)
n.287+10274G>C
2g.222232244G>TCA351112802PAX3c.626C>A (p.Ser209Tyr)
n.440C>A
c.623C>A (p.Ser208Tyr)
c.770C>A (p.Ser257Tyr)
c.62C>A (p.Ser21Tyr)
n.287+10274G>T
2g.222232245A>CCA351112807PAX3c.625T>G (p.Ser209Ala)
n.439T>G
c.622T>G (p.Ser208Ala)
c.769T>G (p.Ser257Ala)
c.61T>G (p.Ser21Ala)
n.287+10275A>C
2g.222232245A>GCA351112805PAX3c.625T>C (p.Ser209Pro)
n.439T>C
c.622T>C (p.Ser208Pro)
c.769T>C (p.Ser257Pro)
c.61T>C (p.Ser21Pro)
n.287+10275A>G
2g.222232245A>TCA351112804PAX3c.625T>A (p.Ser209Thr)
n.439T>A
c.622T>A (p.Ser208Thr)
c.769T>A (p.Ser257Thr)
c.61T>A (p.Ser21Thr)
n.287+10275A>T
2g.222232246G>ACA2135606PAX3c.624C>T (p.Asp208=)
n.438C>T
c.621C>T (p.Asp207=)
c.768C>T (p.Asp256=)
c.60C>T (p.Asp20=)
n.287+10276G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222232246G>CCA351112809PAX3c.624C>G (p.Asp208Glu)
n.438C>G
c.621C>G (p.Asp207Glu)
c.768C>G (p.Asp256Glu)
c.60C>G (p.Asp20Glu)
n.287+10276G>C
2g.222232246G=CA1330516262PAX3c.624C= (p.Asp208=)
n.438C=
c.621C= (p.Asp207=)
c.768C= (p.Asp256=)
c.60C= (p.Asp20=)
n.287+10276G=
2g.222232246G>TCA351112810PAX3c.624C>A (p.Asp208Glu)
n.438C>A
c.621C>A (p.Asp207Glu)
c.768C>A (p.Asp256Glu)
c.60C>A (p.Asp20Glu)
n.287+10276G>T
2g.222232247T>ACA351112813PAX3c.623A>T (p.Asp208Val)
n.437A>T
c.620A>T (p.Asp207Val)
c.767A>T (p.Asp256Val)
c.59A>T (p.Asp20Val)
n.287+10277T>A
2g.222232247T>CCA351112815PAX3c.623A>G (p.Asp208Gly)
n.437A>G
c.620A>G (p.Asp207Gly)
c.767A>G (p.Asp256Gly)
c.59A>G (p.Asp20Gly)
n.287+10277T>C
2g.222232247T>GCA351112816PAX3c.623A>C (p.Asp208Ala)
n.437A>C
c.620A>C (p.Asp207Ala)
c.767A>C (p.Asp256Ala)
c.59A>C (p.Asp20Ala)
n.287+10277T>G
2g.222232248C>ACA351112819PAX3c.622G>T (p.Asp208Tyr)
n.436G>T
c.619G>T (p.Asp207Tyr)
c.766G>T (p.Asp256Tyr)
c.58G>T (p.Asp20Tyr)
n.287+10278C>A
 gnomAD v4
2g.222232248C>GCA351112820PAX3c.622G>C (p.Asp208His)
n.436G>C
c.619G>C (p.Asp207His)
c.766G>C (p.Asp256His)
c.58G>C (p.Asp20His)
n.287+10278C>G
2g.222232248C>TCA351112822PAX3c.622G>A (p.Asp208Asn)
n.436G>A
c.619G>A (p.Asp207Asn)
c.766G>A (p.Asp256Asn)
c.58G>A (p.Asp20Asn)
n.287+10278C>T
2g.222232249A>CCA351112824PAX3c.621T>G (p.Ile207Met)
n.435T>G
c.618T>G (p.Ile206Met)
c.765T>G (p.Ile255Met)
c.57T>G (p.Ile19Met)
n.287+10279A>C
2g.222232249A>GCA431575684PAX3c.621T>C (p.Ile207=)
n.435T>C
c.618T>C (p.Ile206=)
c.765T>C (p.Ile255=)
c.57T>C (p.Ile19=)
n.287+10279A>G
 gnomAD v4
2g.222232249A>TCA431575685PAX3c.621T>A (p.Ile207=)
n.435T>A
c.618T>A (p.Ile206=)
c.765T>A (p.Ile255=)
c.57T>A (p.Ile19=)
n.287+10279A>T
2g.222232250A=CA1330516263PAX3c.620T= (p.Ile207=)
n.434T=
c.617T= (p.Ile206=)
c.764T= (p.Ile255=)
c.56T= (p.Ile19=)
n.287+10280A=
2g.222232250A>CCA351112826PAX3c.620T>G (p.Ile207Ser)
n.434T>G
c.617T>G (p.Ile206Ser)
c.764T>G (p.Ile255Ser)
c.56T>G (p.Ile19Ser)
n.287+10280A>C
2g.222232250A>GCA2135607PAX3c.620T>C (p.Ile207Thr)
n.434T>C
c.617T>C (p.Ile206Thr)
c.764T>C (p.Ile255Thr)
c.56T>C (p.Ile19Thr)
n.287+10280A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222232250A>TCA351112829PAX3c.620T>A (p.Ile207Asn)
n.434T>A
c.617T>A (p.Ile206Asn)
c.764T>A (p.Ile255Asn)
c.56T>A (p.Ile19Asn)
n.287+10280A>T
2g.222232251T>ACA351112833PAX3c.619A>T (p.Ile207Phe)
n.433A>T
c.616A>T (p.Ile206Phe)
c.763A>T (p.Ile255Phe)
c.55A>T (p.Ile19Phe)
n.287+10281T>A
2g.222232251T>CCA351112834PAX3c.619A>G (p.Ile207Val)
n.433A>G
c.616A>G (p.Ile206Val)
c.763A>G (p.Ile255Val)
c.55A>G (p.Ile19Val)
n.287+10281T>C
2g.222232251T>GCA351112831PAX3c.619A>C (p.Ile207Leu)
n.433A>C
c.616A>C (p.Ile206Leu)
c.763A>C (p.Ile255Leu)
c.55A>C (p.Ile19Leu)
n.287+10281T>G
2g.222232251dupCA915941738PAX3c.619dup (p.Ile207AsnfsTer2)
n.433dup
c.616dup (p.Ile206AsnfsTer2)
c.763dup (p.Ile255AsnfsTer2)
c.55dup (p.Ile19AsnfsTer2)
n.287+10281dup
 ClinVar dbSNP
2g.222232252A>CCA351112837PAX3c.618T>G (p.Asp206Glu)
n.432T>G
c.615T>G (p.Asp205Glu)
c.762T>G (p.Asp254Glu)
c.54T>G (p.Asp18Glu)
n.287+10282A>C
2g.222232252A>GCA431575686PAX3c.618T>C (p.Asp206=)
n.432T>C
c.615T>C (p.Asp205=)
c.762T>C (p.Asp254=)
c.54T>C (p.Asp18=)
n.287+10282A>G
2g.222232252A>TCA351112839PAX3c.618T>A (p.Asp206Glu)
n.432T>A
c.615T>A (p.Asp205Glu)
c.762T>A (p.Asp254Glu)
c.54T>A (p.Asp18Glu)
n.287+10282A>T
2g.222232253T>ACA351112841PAX3c.617A>T (p.Asp206Val)
n.431A>T
c.614A>T (p.Asp205Val)
c.761A>T (p.Asp254Val)
c.53A>T (p.Asp18Val)
n.287+10283T>A
2g.222232253T>CCA351112845PAX3c.617A>G (p.Asp206Gly)
n.431A>G
c.614A>G (p.Asp205Gly)
c.761A>G (p.Asp254Gly)
c.53A>G (p.Asp18Gly)
n.287+10283T>C
2g.222232253T>GCA351112843PAX3c.617A>C (p.Asp206Ala)
n.431A>C
c.614A>C (p.Asp205Ala)
c.761A>C (p.Asp254Ala)
c.53A>C (p.Asp18Ala)
n.287+10283T>G
2g.222232254C>ACA351112847PAX3c.616G>T (p.Asp206Tyr)
n.430G>T
c.613G>T (p.Asp205Tyr)
c.760G>T (p.Asp254Tyr)
c.52G>T (p.Asp18Tyr)
n.287+10284C>A
2g.222232254C>GCA351112849PAX3c.616G>C (p.Asp206His)
n.430G>C
c.613G>C (p.Asp205His)
c.760G>C (p.Asp254His)
c.52G>C (p.Asp18His)
n.287+10284C>G
2g.222232254C>TCA351112850PAX3c.616G>A (p.Asp206Asn)
n.430G>A
c.613G>A (p.Asp205Asn)
c.760G>A (p.Asp254Asn)
c.52G>A (p.Asp18Asn)
n.287+10284C>T
2g.222232255A>CCA431575687PAX3c.615T>G (p.Ser205=)
n.429T>G
c.612T>G (p.Ser204=)
c.759T>G (p.Ser253=)
c.51T>G (p.Ser17=)
n.287+10285A>C
2g.222232255A>GCA431575688PAX3c.615T>C (p.Ser205=)
n.429T>C
c.612T>C (p.Ser204=)
c.759T>C (p.Ser253=)
c.51T>C (p.Ser17=)
n.287+10285A>G
2g.222232255A>TCA431575689PAX3c.615T>A (p.Ser205=)
n.429T>A
c.612T>A (p.Ser204=)
c.759T>A (p.Ser253=)
c.51T>A (p.Ser17=)
n.287+10285A>T
2g.222232257_222232258delCA2739278468PAX3c.614_615del (p.Ser205Ter)
n.428_429del
c.611_612del (p.Ser204Ter)
c.758_759del (p.Ser253Ter)
c.50_51del (p.Ser17Ter)
n.287+10287_287+10288del
 ClinVar
2g.222232256G>ACA351112853PAX3c.614C>T (p.Ser205Phe)
n.428C>T
c.611C>T (p.Ser204Phe)
c.758C>T (p.Ser253Phe)
c.50C>T (p.Ser17Phe)
n.287+10286G>A
2g.222232256G>CCA351112855PAX3c.614C>G (p.Ser205Cys)
n.428C>G
c.611C>G (p.Ser204Cys)
c.758C>G (p.Ser253Cys)
c.50C>G (p.Ser17Cys)
n.287+10286G>C
2g.222232256G>TCA351112857PAX3c.614C>A (p.Ser205Tyr)
n.428C>A
c.611C>A (p.Ser204Tyr)
c.758C>A (p.Ser253Tyr)
c.50C>A (p.Ser17Tyr)
n.287+10286G>T
2g.222232257A>CCA351112860PAX3c.613T>G (p.Ser205Ala)
n.427T>G
c.610T>G (p.Ser204Ala)
c.757T>G (p.Ser253Ala)
c.49T>G (p.Ser17Ala)
n.287+10287A>C
2g.222232257A>GCA351112861PAX3c.613T>C (p.Ser205Pro)
n.427T>C
c.610T>C (p.Ser204Pro)
c.757T>C (p.Ser253Pro)
c.49T>C (p.Ser17Pro)
n.287+10287A>G
2g.222232257A>TCA351112864PAX3c.613T>A (p.Ser205Thr)
n.427T>A
c.610T>A (p.Ser204Thr)
c.757T>A (p.Ser253Thr)
c.49T>A (p.Ser17Thr)
n.287+10287A>T
 gnomAD v4
2g.222232258G>ACA431575692PAX3c.612C>T (p.Gly204=)
n.426C>T
c.609C>T (p.Gly203=)
c.756C>T (p.Gly252=)
c.48C>T (p.Gly16=)
n.287+10288G>A
2g.222232258G>CCA431575690PAX3c.612C>G (p.Gly204=)
n.426C>G
c.609C>G (p.Gly203=)
c.756C>G (p.Gly252=)
c.48C>G (p.Gly16=)
n.287+10288G>C
2g.222232258G>TCA431575691PAX3c.612C>A (p.Gly204=)
n.426C>A
c.609C>A (p.Gly203=)
c.756C>A (p.Gly252=)
c.48C>A (p.Gly16=)
n.287+10288G>T
2g.222232259C>ACA2135608PAX3c.611G>T (p.Gly204Val)
n.425G>T
c.608G>T (p.Gly203Val)
c.755G>T (p.Gly252Val)
c.47G>T (p.Gly16Val)
n.287+10289C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222232259C=CA1330516264PAX3c.611G= (p.Gly204=)
n.425G=
c.608G= (p.Gly203=)
c.755G= (p.Gly252=)
c.47G= (p.Gly16=)
n.287+10289C=
2g.222232259C>GCA351112866PAX3c.611G>C (p.Gly204Ala)
n.425G>C
c.608G>C (p.Gly203Ala)
c.755G>C (p.Gly252Ala)
c.47G>C (p.Gly16Ala)
n.287+10289C>G
2g.222232259C>TCA351112868PAX3c.611G>A (p.Gly204Asp)
n.425G>A
c.608G>A (p.Gly203Asp)
c.755G>A (p.Gly252Asp)
c.47G>A (p.Gly16Asp)
n.287+10289C>T
 gnomAD v4
2g.222232260C>ACA351112871PAX3c.610G>T (p.Gly204Cys)
n.424G>T
c.607G>T (p.Gly203Cys)
c.754G>T (p.Gly252Cys)
c.46G>T (p.Gly16Cys)
n.287+10290C>A
 COSMIC COSMIC
2g.222232260C=CA1330516265PAX3c.610G= (p.Gly204=)
n.424G=
c.607G= (p.Gly203=)
c.754G= (p.Gly252=)
c.46G= (p.Gly16=)
n.287+10290C=
2g.222232260C>GCA351112875PAX3c.610G>C (p.Gly204Arg)
n.424G>C
c.607G>C (p.Gly203Arg)
c.754G>C (p.Gly252Arg)
c.46G>C (p.Gly16Arg)
n.287+10290C>G
2g.222232260C>TCA351112873PAX3c.610G>A (p.Gly204Ser)
n.424G>A
c.607G>A (p.Gly203Ser)
c.754G>A (p.Gly252Ser)
c.46G>A (p.Gly16Ser)
n.287+10290C>T
 dbSNP gnomAD v2 gnomAD v4
2g.222232261T>ACA351112877PAX3c.609A>T (p.Glu203Asp)
n.423A>T
c.606A>T (p.Glu202Asp)
c.753A>T (p.Glu251Asp)
c.45A>T (p.Glu15Asp)
n.287+10291T>A
2g.222232261T>CCA431575693PAX3c.609A>G (p.Glu203=)
n.423A>G
c.606A>G (p.Glu202=)
c.753A>G (p.Glu251=)
c.45A>G (p.Glu15=)
n.287+10291T>C
2g.222232261T>GCA351112879PAX3c.609A>C (p.Glu203Asp)
n.423A>C
c.606A>C (p.Glu202Asp)
c.753A>C (p.Glu251Asp)
c.45A>C (p.Glu15Asp)
n.287+10291T>G
 gnomAD v4
2g.222232262T>ACA351112881PAX3c.608A>T (p.Glu203Val)
n.422A>T
c.605A>T (p.Glu202Val)
c.752A>T (p.Glu251Val)
c.44A>T (p.Glu15Val)
n.287+10292T>A
2g.222232262T>CCA351112882PAX3c.608A>G (p.Glu203Gly)
n.422A>G
c.605A>G (p.Glu202Gly)
c.752A>G (p.Glu251Gly)
c.44A>G (p.Glu15Gly)
n.287+10292T>C
2g.222232262T>GCA351112884PAX3c.608A>C (p.Glu203Ala)
n.422A>C
c.605A>C (p.Glu202Ala)
c.752A>C (p.Glu251Ala)
c.44A>C (p.Glu15Ala)
n.287+10292T>G
 COSMIC COSMIC
2g.222232263C>ACA351112886PAX3c.607G>T (p.Glu203Ter)
n.421G>T
c.604G>T (p.Glu202Ter)
c.751G>T (p.Glu251Ter)
c.43G>T (p.Glu15Ter)
n.287+10293C>A
2g.222232263C>GCA351112888PAX3c.607G>C (p.Glu203Gln)
n.421G>C
c.604G>C (p.Glu202Gln)
c.751G>C (p.Glu251Gln)
c.43G>C (p.Glu15Gln)
n.287+10293C>G
2g.222232263C>TCA351112889PAX3c.607G>A (p.Glu203Lys)
n.421G>A
c.604G>A (p.Glu202Lys)
c.751G>A (p.Glu251Lys)
c.43G>A (p.Glu15Lys)
n.287+10293C>T
2g.222232264A>CCA351112891PAX3c.606T>G (p.Asp202Glu)
n.420T>G
c.603T>G (p.Asp201Glu)
c.750T>G (p.Asp250Glu)
c.42T>G (p.Asp14Glu)
n.287+10294A>C
2g.222232264A>GCA431575694PAX3c.606T>C (p.Asp202=)
n.420T>C
c.603T>C (p.Asp201=)
c.750T>C (p.Asp250=)
c.42T>C (p.Asp14=)
n.287+10294A>G
2g.222232264A>TCA351112893PAX3c.606T>A (p.Asp202Glu)
n.420T>A
c.603T>A (p.Asp201Glu)
c.750T>A (p.Asp250Glu)
c.42T>A (p.Asp14Glu)
n.287+10294A>T
2g.222232265T>ACA351112896PAX3c.605A>T (p.Asp202Val)
n.419A>T
c.602A>T (p.Asp201Val)
c.749A>T (p.Asp250Val)
c.41A>T (p.Asp14Val)
n.287+10295T>A
2g.222232265T>CCA351112899PAX3c.605A>G (p.Asp202Gly)
n.419A>G
c.602A>G (p.Asp201Gly)
c.749A>G (p.Asp250Gly)
c.41A>G (p.Asp14Gly)
n.287+10295T>C
2g.222232265T>GCA2135609PAX3c.605A>C (p.Asp202Ala)
n.419A>C
c.602A>C (p.Asp201Ala)
c.749A>C (p.Asp250Ala)
c.41A>C (p.Asp14Ala)
n.287+10295T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222232265T=CA1330516266PAX3c.605A= (p.Asp202=)
n.419A=
c.602A= (p.Asp201=)
c.749A= (p.Asp250=)
c.41A= (p.Asp14=)
n.287+10295T=
2g.222232266C>ACA351112901PAX3c.604G>T (p.Asp202Tyr)
n.418G>T
c.601G>T (p.Asp201Tyr)
c.748G>T (p.Asp250Tyr)
c.40G>T (p.Asp14Tyr)
n.287+10296C>A
2g.222232266C>GCA351112903PAX3c.604G>C (p.Asp202His)
n.418G>C
c.601G>C (p.Asp201His)
c.748G>C (p.Asp250His)
c.40G>C (p.Asp14His)
n.287+10296C>G
2g.222232266C>TCA351112905PAX3c.604G>A (p.Asp202Asn)
n.418G>A
c.601G>A (p.Asp201Asn)
c.748G>A (p.Asp250Asn)
c.40G>A (p.Asp14Asn)
n.287+10296C>T
2g.222232267T>ACA431575695PAX3c.603A>T (p.Ser201=)
n.417A>T
c.600A>T (p.Ser200=)
c.747A>T (p.Ser249=)
c.39A>T (p.Ser13=)
n.287+10297T>A
2g.222232267T>CCA431575696PAX3c.603A>G (p.Ser201=)
n.417A>G
c.600A>G (p.Ser200=)
c.747A>G (p.Ser249=)
c.39A>G (p.Ser13=)
n.287+10297T>C
2g.222232267T>GCA431575697PAX3c.603A>C (p.Ser201=)
n.417A>C
c.600A>C (p.Ser200=)
c.747A>C (p.Ser249=)
c.39A>C (p.Ser13=)
n.287+10297T>G
2g.222232268G>ACA351112906PAX3c.602C>T (p.Ser201Leu)
n.416C>T
c.599C>T (p.Ser200Leu)
c.746C>T (p.Ser249Leu)
c.38C>T (p.Ser13Leu)
n.287+10298G>A
2g.222232268G>CCA16604154PAX3c.602C>G (p.Ser201Ter)
n.416C>G
c.599C>G (p.Ser200Ter)
c.746C>G (p.Ser249Ter)
c.38C>G (p.Ser13Ter)
n.287+10298G>C
 ClinVar dbSNP
2g.222232268G=CA1330516267PAX3c.602C= (p.Ser201=)
n.416C=
c.599C= (p.Ser200=)
c.746C= (p.Ser249=)
c.38C= (p.Ser13=)
n.287+10298G=
2g.222232268G>TCA351112907PAX3c.602C>A (p.Ser201Ter)
n.416C>A
c.599C>A (p.Ser200Ter)
c.746C>A (p.Ser249Ter)
c.38C>A (p.Ser13Ter)
n.287+10298G>T
 ClinVar
2g.222232269_222232273delCA645509041PAX3c.598_602del (p.Gln200ArgfsTer2)
n.412_416del
c.595_599del (p.Gln199ArgfsTer2)
c.742_746del (p.Gln248ArgfsTer2)
c.34_38del (p.Gln12ArgfsTer2)
n.287+10299_287+10303del
2g.222232269A>CCA351112913PAX3c.601T>G (p.Ser201Ala)
n.415T>G
c.598T>G (p.Ser200Ala)
c.745T>G (p.Ser249Ala)
c.37T>G (p.Ser13Ala)
n.287+10299A>C
2g.222232269A>GCA351112910PAX3c.601T>C (p.Ser201Pro)
n.415T>C
c.598T>C (p.Ser200Pro)
c.745T>C (p.Ser249Pro)
c.37T>C (p.Ser13Pro)
n.287+10299A>G
2g.222232269A>TCA351112911PAX3c.601T>A (p.Ser201Thr)
n.415T>A
c.598T>A (p.Ser200Thr)
c.745T>A (p.Ser249Thr)
c.37T>A (p.Ser13Thr)
n.287+10299A>T
2g.222232270T>ACA351112915PAX3c.600A>T (p.Gln200His)
n.414A>T
c.597A>T (p.Gln199His)
c.744A>T (p.Gln248His)
c.36A>T (p.Gln12His)
n.287+10300T>A
2g.222232270T>CCA431575698PAX3c.600A>G (p.Gln200=)
n.414A>G
c.597A>G (p.Gln199=)
c.744A>G (p.Gln248=)
c.36A>G (p.Gln12=)
n.287+10300T>C
2g.222232270T>GCA351112916PAX3c.600A>C (p.Gln200His)
n.414A>C
c.597A>C (p.Gln199His)
c.744A>C (p.Gln248His)
c.36A>C (p.Gln12His)
n.287+10300T>G
2g.222232271T>ACA351112919PAX3c.599A>T (p.Gln200Leu)
n.413A>T
c.596A>T (p.Gln199Leu)
c.743A>T (p.Gln248Leu)
c.35A>T (p.Gln12Leu)
n.287+10301T>A
 gnomAD v4
2g.222232271T>CCA351112921PAX3c.599A>G (p.Gln200Arg)
n.413A>G
c.596A>G (p.Gln199Arg)
c.743A>G (p.Gln248Arg)
c.35A>G (p.Gln12Arg)
n.287+10301T>C
 dbSNP gnomAD v4
2g.222232271T>GCA351112922PAX3c.599A>C (p.Gln200Pro)
n.413A>C
c.596A>C (p.Gln199Pro)
c.743A>C (p.Gln248Pro)
c.35A>C (p.Gln12Pro)
n.287+10301T>G
 gnomAD v4
2g.222232272G>ACA351112925PAX3c.598C>T (p.Gln200Ter)
n.412C>T
c.595C>T (p.Gln199Ter)
c.742C>T (p.Gln248Ter)
c.34C>T (p.Gln12Ter)
n.287+10302G>A
2g.222232272G>CCA351112928PAX3c.598C>G (p.Gln200Glu)
n.412C>G
c.595C>G (p.Gln199Glu)
c.742C>G (p.Gln248Glu)
c.34C>G (p.Gln12Glu)
n.287+10302G>C
2g.222232272G=CA1330516268PAX3c.598C= (p.Gln200=)
n.412C=
c.595C= (p.Gln199=)
c.742C= (p.Gln248=)
c.34C= (p.Gln12=)
n.287+10302G=
2g.222232272G>TCA351112926PAX3c.598C>A (p.Gln200Lys)
n.412C>A
c.595C>A (p.Gln199Lys)
c.742C>A (p.Gln248Lys)
c.34C>A (p.Gln12Lys)
n.287+10302G>T
 dbSNP gnomAD v2 gnomAD v4
2g.222232273G>ACA431575699PAX3c.597C>T (p.Pro199=)
n.411C>T
c.594C>T (p.Pro198=)
c.741C>T (p.Pro247=)
c.33C>T (p.Pro11=)
n.287+10303G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.222232273G>CCA431575700PAX3c.597C>G (p.Pro199=)
n.411C>G
c.594C>G (p.Pro198=)
c.741C>G (p.Pro247=)
c.33C>G (p.Pro11=)
n.287+10303G>C
2g.222232273G=CA1330516269PAX3c.597C= (p.Pro199=)
n.411C=
c.594C= (p.Pro198=)
c.741C= (p.Pro247=)
c.33C= (p.Pro11=)
n.287+10303G=
2g.222232273G>TCA431575701PAX3c.597C>A (p.Pro199=)
n.411C>A
c.594C>A (p.Pro198=)
c.741C>A (p.Pro247=)
c.33C>A (p.Pro11=)
n.287+10303G>T
 COSMIC COSMIC
2g.222232274G>ACA351112930PAX3c.596C>T (p.Pro199Leu)
n.410C>T
c.593C>T (p.Pro198Leu)
c.740C>T (p.Pro247Leu)
c.32C>T (p.Pro11Leu)
n.287+10304G>A
 gnomAD v4
2g.222232274G>CCA2135610PAX3c.596C>G (p.Pro199Arg)
n.410C>G
c.593C>G (p.Pro198Arg)
c.740C>G (p.Pro247Arg)
c.32C>G (p.Pro11Arg)
n.287+10304G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222232274G=CA1330516270PAX3c.596C= (p.Pro199=)
n.410C=
c.593C= (p.Pro198=)
c.740C= (p.Pro247=)
c.32C= (p.Pro11=)
n.287+10304G=
2g.222232274G>TCA351112932PAX3c.596C>A (p.Pro199His)
n.410C>A
c.593C>A (p.Pro198His)
c.740C>A (p.Pro247His)
c.32C>A (p.Pro11His)
n.287+10304G>T
2g.222232275G>ACA351112935PAX3c.595C>T (p.Pro199Ser)
n.409C>T
c.592C>T (p.Pro198Ser)
c.739C>T (p.Pro247Ser)
c.31C>T (p.Pro11Ser)
n.287+10305G>A
2g.222232275G>CCA351112936PAX3c.595C>G (p.Pro199Ala)
n.409C>G
c.592C>G (p.Pro198Ala)
c.739C>G (p.Pro247Ala)
c.31C>G (p.Pro11Ala)
n.287+10305G>C
2g.222232275G>TCA351112938PAX3c.595C>A (p.Pro199Thr)
n.409C>A
c.592C>A (p.Pro198Thr)
c.739C>A (p.Pro247Thr)
c.31C>A (p.Pro11Thr)
n.287+10305G>T
2g.222232276T>ACA431575702PAX3c.594A>T (p.Ala198=)
n.408A>T
c.591A>T (p.Ala197=)
c.738A>T (p.Ala246=)
c.30A>T (p.Ala10=)
n.287+10306T>A
 dbSNP gnomAD v3 gnomAD v4
2g.222232276T>CCA431575703PAX3c.594A>G (p.Ala198=)
n.408A>G
c.591A>G (p.Ala197=)
c.738A>G (p.Ala246=)
c.30A>G (p.Ala10=)
n.287+10306T>C
2g.222232276T>GCA431575704PAX3c.594A>C (p.Ala198=)
n.408A>C
c.591A>C (p.Ala197=)
c.738A>C (p.Ala246=)
c.30A>C (p.Ala10=)
n.287+10306T>G
2g.222232276T=CA1330516271PAX3c.594A= (p.Ala198=)
n.408A=
c.591A= (p.Ala197=)
c.738A= (p.Ala246=)
c.30A= (p.Ala10=)
n.287+10306T=
2g.222232277G>ACA351112939PAX3c.593C>T (p.Ala198Val)
n.407C>T
c.590C>T (p.Ala197Val)
c.737C>T (p.Ala246Val)
c.29C>T (p.Ala10Val)
n.287+10307G>A
2g.222232277G>CCA351112941PAX3c.593C>G (p.Ala198Gly)
n.407C>G
c.590C>G (p.Ala197Gly)
c.737C>G (p.Ala246Gly)
c.29C>G (p.Ala10Gly)
n.287+10307G>C
2g.222232277G>TCA351112943PAX3c.593C>A (p.Ala198Glu)
n.407C>A
c.590C>A (p.Ala197Glu)
c.737C>A (p.Ala246Glu)
c.29C>A (p.Ala10Glu)
n.287+10307G>T
 gnomAD v4
2g.222232277_222232283delCA2586971447PAX3c.587_593del (p.Ala196AspfsTer18)
n.401_407del
c.584_590del (p.Ala195AspfsTer18)
c.731_737del (p.Ala244AspfsTer18)
c.23_29del (p.Ala8AspfsTer18)
n.287+10307_287+10313del
2g.222232278delCA2586971448PAX3c.592del (p.Ala198HisfsTer18)
n.406del
c.589del (p.Ala197HisfsTer18)
c.736del (p.Ala246HisfsTer18)
c.28del (p.Ala10HisfsTer18)
n.287+10308del
2g.222232278C>ACA351112945PAX3c.592G>T (p.Ala198Ser)
n.406G>T
c.589G>T (p.Ala197Ser)
c.736G>T (p.Ala246Ser)
c.28G>T (p.Ala10Ser)
n.287+10308C>A
2g.222232278C>GCA351112947PAX3c.592G>C (p.Ala198Pro)
n.406G>C
c.589G>C (p.Ala197Pro)
c.736G>C (p.Ala246Pro)
c.28G>C (p.Ala10Pro)
n.287+10308C>G
2g.222232278C>TCA351112949PAX3c.592G>A (p.Ala198Thr)
n.406G>A
c.589G>A (p.Ala197Thr)
c.736G>A (p.Ala246Thr)
c.28G>A (p.Ala10Thr)
n.287+10308C>T
2g.222232279T>ACA431575705PAX3c.591A>T (p.Ser197=)
n.405A>T
c.588A>T (p.Ser196=)
c.735A>T (p.Ser245=)
c.27A>T (p.Ser9=)
n.287+10309T>A
 gnomAD v4
2g.222232279T>CCA2135611PAX3c.591A>G (p.Ser197=)
n.405A>G
c.588A>G (p.Ser196=)
c.735A>G (p.Ser245=)
c.27A>G (p.Ser9=)
n.287+10309T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222232279T>GCA431575706PAX3c.591A>C (p.Ser197=)
n.405A>C
c.588A>C (p.Ser196=)
c.735A>C (p.Ser245=)
c.27A>C (p.Ser9=)
n.287+10309T>G
2g.222232279T=CA1330516272PAX3c.591A= (p.Ser197=)
n.405A=
c.588A= (p.Ser196=)
c.735A= (p.Ser245=)
c.27A= (p.Ser9=)
n.287+10309T=
2g.222232280G>ACA351112953PAX3c.590C>T (p.Ser197Leu)
n.404C>T
c.587C>T (p.Ser196Leu)
c.734C>T (p.Ser245Leu)
c.26C>T (p.Ser9Leu)
n.287+10310G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.222232280G>CCA351112951PAX3c.590C>G (p.Ser197Ter)
n.404C>G
c.587C>G (p.Ser196Ter)
c.734C>G (p.Ser245Ter)
c.26C>G (p.Ser9Ter)
n.287+10310G>C
2g.222232280G=CA1330516273PAX3c.590C= (p.Ser197=)
n.404C=
c.587C= (p.Ser196=)
c.734C= (p.Ser245=)
c.26C= (p.Ser9=)
n.287+10310G=
2g.222232280G>TCA351112954PAX3c.590C>A (p.Ser197Ter)
n.404C>A
c.587C>A (p.Ser196Ter)
c.734C>A (p.Ser245Ter)
c.26C>A (p.Ser9Ter)
n.287+10310G>T
2g.222232281delCA2586971449PAX3c.589del (p.Ser197GlnfsTer19)
n.403del
c.586del (p.Ser196GlnfsTer19)
c.733del (p.Ser245GlnfsTer19)
c.25del (p.Ser9GlnfsTer19)
n.287+10311del
2g.222232281A>CCA351112957PAX3c.589T>G (p.Ser197Ala)
n.403T>G
c.586T>G (p.Ser196Ala)
c.733T>G (p.Ser245Ala)
c.25T>G (p.Ser9Ala)
n.287+10311A>C
2g.222232281A>GCA351112958PAX3c.589T>C (p.Ser197Pro)
n.403T>C
c.586T>C (p.Ser196Pro)
c.733T>C (p.Ser245Pro)
c.25T>C (p.Ser9Pro)
n.287+10311A>G
2g.222232281A>TCA351112959PAX3c.589T>A (p.Ser197Thr)
n.403T>A
c.586T>A (p.Ser196Thr)
c.733T>A (p.Ser245Thr)
c.25T>A (p.Ser9Thr)
n.287+10311A>T
2g.222232282G>ACA431575707PAX3c.588C>T (p.Ala196=)
n.402C>T
c.585C>T (p.Ala195=)
c.732C>T (p.Ala244=)
c.24C>T (p.Ala8=)
n.287+10312G>A
 gnomAD v4
2g.222232282G>CCA431575708PAX3c.588C>G (p.Ala196=)
n.402C>G
c.585C>G (p.Ala195=)
c.732C>G (p.Ala244=)
c.24C>G (p.Ala8=)
n.287+10312G>C
2g.222232282G=CA1330516274PAX3c.588C= (p.Ala196=)
n.402C=
c.585C= (p.Ala195=)
c.732C= (p.Ala244=)
c.24C= (p.Ala8=)
n.287+10312G=
2g.222232282G>TCA431575709PAX3c.588C>A (p.Ala196=)
n.402C>A
c.585C>A (p.Ala195=)
c.732C>A (p.Ala244=)
c.24C>A (p.Ala8=)
n.287+10312G>T
 dbSNP gnomAD v4
2g.222232283G>ACA351112961PAX3c.587C>T (p.Ala196Val)
n.401C>T
c.584C>T (p.Ala195Val)
c.731C>T (p.Ala244Val)
c.23C>T (p.Ala8Val)
n.287+10313G>A
2g.222232283G>CCA351112963PAX3c.587C>G (p.Ala196Gly)
n.401C>G
c.584C>G (p.Ala195Gly)
c.731C>G (p.Ala244Gly)
c.23C>G (p.Ala8Gly)
n.287+10313G>C
2g.222232283G=CA1330516275PAX3c.587C= (p.Ala196=)
n.401C=
c.584C= (p.Ala195=)
c.731C= (p.Ala244=)
c.23C= (p.Ala8=)
n.287+10313G=
2g.222232283G>TCA66333345PAX3c.587C>A (p.Ala196Asp)
n.401C>A
c.584C>A (p.Ala195Asp)
c.731C>A (p.Ala244Asp)
c.23C>A (p.Ala8Asp)
n.287+10313G>T
 dbSNP gnomAD v4

Number of alleles fetched