Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.222232082A>CCA351112126PAX3c.788T>G (p.Val263Gly)
n.602T>G
c.785T>G (p.Val262Gly)
c.932T>G (p.Val311Gly)
c.224T>G (p.Val75Gly)
n.287+10112A>C
n.358A>C
2g.222232082A>GCA351112128PAX3c.788T>C (p.Val263Ala)
n.602T>C
c.785T>C (p.Val262Ala)
c.932T>C (p.Val311Ala)
c.224T>C (p.Val75Ala)
n.287+10112A>G
n.358A>G
2g.222232082A>TCA351112130PAX3c.788T>A (p.Val263Glu)
n.602T>A
c.785T>A (p.Val262Glu)
c.932T>A (p.Val311Glu)
c.224T>A (p.Val75Glu)
n.287+10112A>T
n.358A>T
2g.222232083C>ACA351112133PAX3c.787G>T (p.Val263Leu)
n.601G>T
c.784G>T (p.Val262Leu)
c.931G>T (p.Val311Leu)
c.223G>T (p.Val75Leu)
n.287+10113C>A
n.359C>A
2g.222232083C>GCA351112135PAX3c.787G>C (p.Val263Leu)
n.601G>C
c.784G>C (p.Val262Leu)
c.931G>C (p.Val311Leu)
c.223G>C (p.Val75Leu)
n.287+10113C>G
n.359C>G
2g.222232083C>TCA351112131PAX3c.787G>A (p.Val263Ile)
n.601G>A
c.784G>A (p.Val262Ile)
c.931G>A (p.Val311Ile)
c.223G>A (p.Val75Ile)
n.287+10113C>T
n.359C>T
 gnomAD v4
2g.222232084T>ACA431575584PAX3c.786A>T (p.Arg262=)
n.600A>T
c.783A>T (p.Arg261=)
c.930A>T (p.Arg310=)
c.222A>T (p.Arg74=)
n.287+10114T>A
n.360T>A
2g.222232084T>CCA431575586PAX3c.786A>G (p.Arg262=)
n.600A>G
c.783A>G (p.Arg261=)
c.930A>G (p.Arg310=)
c.222A>G (p.Arg74=)
n.287+10114T>C
n.360T>C
 dbSNP gnomAD v3 gnomAD v4
2g.222232084T>GCA431575585PAX3c.786A>C (p.Arg262=)
n.600A>C
c.783A>C (p.Arg261=)
c.930A>C (p.Arg310=)
c.222A>C (p.Arg74=)
n.287+10114T>G
n.360T>G
2g.222232084T=CA1330516200PAX3c.786A= (p.Arg262=)
n.600A=
c.783A= (p.Arg261=)
c.930A= (p.Arg310=)
c.222A= (p.Arg74=)
n.287+10114T=
n.360T=
2g.222232085C>ACA351112138PAX3c.785G>T (p.Arg262Leu)
n.599G>T
c.782G>T (p.Arg261Leu)
c.929G>T (p.Arg310Leu)
c.221G>T (p.Arg74Leu)
n.287+10115C>A
n.361C>A
2g.222232085C=CA1330516201PAX3c.785G= (p.Arg262=)
n.599G=
c.782G= (p.Arg261=)
c.929G= (p.Arg310=)
c.221G= (p.Arg74=)
n.287+10115C=
n.361C=
2g.222232085C>GCA351112140PAX3c.785G>C (p.Arg262Pro)
n.599G>C
c.782G>C (p.Arg261Pro)
c.929G>C (p.Arg310Pro)
c.221G>C (p.Arg74Pro)
n.287+10115C>G
n.361C>G
2g.222232085C>TCA351112142PAX3c.785G>A (p.Arg262Gln)
n.599G>A
c.782G>A (p.Arg261Gln)
c.929G>A (p.Arg310Gln)
c.221G>A (p.Arg74Gln)
n.287+10115C>T
n.361C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.222232086G>ACA10602851PAX3c.784C>T (p.Arg262Ter)
n.598C>T
c.781C>T (p.Arg261Ter)
c.928C>T (p.Arg310Ter)
c.220C>T (p.Arg74Ter)
n.287+10116G>A
n.362G>A
 ClinVar dbSNP
2g.222232086G>CCA351112145PAX3c.784C>G (p.Arg262Gly)
n.598C>G
c.781C>G (p.Arg261Gly)
c.928C>G (p.Arg310Gly)
c.220C>G (p.Arg74Gly)
n.287+10116G>C
n.362G>C
 gnomAD v4
2g.222232086G=CA1330516202PAX3c.784C= (p.Arg262=)
n.598C=
c.781C= (p.Arg261=)
c.928C= (p.Arg310=)
c.220C= (p.Arg74=)
n.287+10116G=
n.362G=
2g.222232086G>TCA431575587PAX3c.784C>A (p.Arg262=)
n.598C>A
c.781C>A (p.Arg261=)
c.928C>A (p.Arg310=)
c.220C>A (p.Arg74=)
n.287+10116G>T
n.362G>T
 dbSNP
2g.222232087G>ACA2135585PAX3c.783C>T (p.Ala261=)
n.597C>T
c.780C>T (p.Ala260=)
c.927C>T (p.Ala309=)
c.219C>T (p.Ala73=)
n.287+10117G>A
n.363G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222232087G>CCA431575588PAX3c.783C>G (p.Ala261=)
n.597C>G
c.780C>G (p.Ala260=)
c.927C>G (p.Ala309=)
c.219C>G (p.Ala73=)
n.287+10117G>C
n.363G>C
2g.222232087G=CA1330516203PAX3c.783C= (p.Ala261=)
n.597C=
c.780C= (p.Ala260=)
c.927C= (p.Ala309=)
c.219C= (p.Ala73=)
n.287+10117G=
n.363G=
2g.222232087G>TCA431575589PAX3c.783C>A (p.Ala261=)
n.597C>A
c.780C>A (p.Ala260=)
c.927C>A (p.Ala309=)
c.219C>A (p.Ala73=)
n.287+10117G>T
n.363G>T
2g.222232088G>ACA351112151PAX3c.782C>T (p.Ala261Val)
n.596C>T
c.779C>T (p.Ala260Val)
c.926C>T (p.Ala309Val)
c.218C>T (p.Ala73Val)
n.287+10118G>A
n.364G>A
2g.222232088G>CCA351112148PAX3c.782C>G (p.Ala261Gly)
n.596C>G
c.779C>G (p.Ala260Gly)
c.926C>G (p.Ala309Gly)
c.218C>G (p.Ala73Gly)
n.287+10118G>C
n.364G>C
2g.222232088G>TCA351112150PAX3c.782C>A (p.Ala261Asp)
n.596C>A
c.779C>A (p.Ala260Asp)
c.926C>A (p.Ala309Asp)
c.218C>A (p.Ala73Asp)
n.287+10118G>T
n.364G>T
2g.222232089C>ACA351112154PAX3c.781G>T (p.Ala261Ser)
n.595G>T
c.778G>T (p.Ala260Ser)
c.925G>T (p.Ala309Ser)
c.217G>T (p.Ala73Ser)
n.287+10119C>A
n.365C>A
 dbSNP gnomAD v2 gnomAD v4
2g.222232089C=CA1330516204PAX3c.781G= (p.Ala261=)
n.595G=
c.778G= (p.Ala260=)
c.925G= (p.Ala309=)
c.217G= (p.Ala73=)
n.287+10119C=
n.365C=
2g.222232089C>GCA351112156PAX3c.781G>C (p.Ala261Pro)
n.595G>C
c.778G>C (p.Ala260Pro)
c.925G>C (p.Ala309Pro)
c.217G>C (p.Ala73Pro)
n.287+10119C>G
n.365C>G
2g.222232089C>TCA351112157PAX3c.781G>A (p.Ala261Thr)
n.595G>A
c.778G>A (p.Ala260Thr)
c.925G>A (p.Ala309Thr)
c.217G>A (p.Ala73Thr)
n.287+10119C>T
n.365C>T
2g.222232090C>ACA351112160PAX3c.780G>T (p.Glu260Asp)
n.594G>T
c.777G>T (p.Glu259Asp)
c.924G>T (p.Glu308Asp)
c.216G>T (p.Glu72Asp)
n.287+10120C>A
n.366C>A
2g.222232090C=CA1330516205PAX3c.780G= (p.Glu260=)
n.594G=
c.777G= (p.Glu259=)
c.924G= (p.Glu308=)
c.216G= (p.Glu72=)
n.287+10120C=
n.366C=
2g.222232090C>GCA351112162PAX3c.780G>C (p.Glu260Asp)
n.594G>C
c.777G>C (p.Glu259Asp)
c.924G>C (p.Glu308Asp)
c.216G>C (p.Glu72Asp)
n.287+10120C>G
n.366C>G
2g.222232090C>TCA431575590PAX3c.780G>A (p.Glu260=)
n.594G>A
c.777G>A (p.Glu259=)
c.924G>A (p.Glu308=)
c.216G>A (p.Glu72=)
n.287+10120C>T
n.366C>T
 dbSNP gnomAD v3 gnomAD v4
2g.222232091T>ACA351112164PAX3c.779A>T (p.Glu260Val)
n.593A>T
c.776A>T (p.Glu259Val)
c.923A>T (p.Glu308Val)
c.215A>T (p.Glu72Val)
n.287+10121T>A
n.367T>A
2g.222232091T>CCA351112167PAX3c.779A>G (p.Glu260Gly)
n.593A>G
c.776A>G (p.Glu259Gly)
c.923A>G (p.Glu308Gly)
c.215A>G (p.Glu72Gly)
n.287+10121T>C
n.367T>C
2g.222232091T>GCA351112166PAX3c.779A>C (p.Glu260Ala)
n.593A>C
c.776A>C (p.Glu259Ala)
c.923A>C (p.Glu308Ala)
c.215A>C (p.Glu72Ala)
n.287+10121T>G
n.367T>G
2g.222232092C>ACA351112169PAX3c.778G>T (p.Glu260Ter)
n.592G>T
c.775G>T (p.Glu259Ter)
c.922G>T (p.Glu308Ter)
c.214G>T (p.Glu72Ter)
n.287+10122C>A
n.368C>A
2g.222232092C=CA1330516206PAX3c.778G= (p.Glu260=)
n.592G=
c.775G= (p.Glu259=)
c.922G= (p.Glu308=)
c.214G= (p.Glu72=)
n.287+10122C=
n.368C=
2g.222232092C>GCA351112173PAX3c.778G>C (p.Glu260Gln)
n.592G>C
c.775G>C (p.Glu259Gln)
c.922G>C (p.Glu308Gln)
c.214G>C (p.Glu72Gln)
n.287+10122C>G
n.368C>G
2g.222232092C>TCA351112171PAX3c.778G>A (p.Glu260Lys)
n.592G>A
c.775G>A (p.Glu259Lys)
c.922G>A (p.Glu308Lys)
c.214G>A (p.Glu72Lys)
n.287+10122C>T
n.368C>T
 dbSNP gnomAD v2 gnomAD v4
2g.222232093G>ACA2135586PAX3c.777C>T (p.Thr259=)
n.591C>T
c.774C>T (p.Thr258=)
c.921C>T (p.Thr307=)
c.213C>T (p.Thr71=)
n.287+10123G>A
n.369G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.222232093G>CCA431575592PAX3c.777C>G (p.Thr259=)
n.591C>G
c.774C>G (p.Thr258=)
c.921C>G (p.Thr307=)
c.213C>G (p.Thr71=)
n.287+10123G>C
n.369G>C
 dbSNP
2g.222232093G=CA1330516207PAX3c.777C= (p.Thr259=)
n.591C=
c.774C= (p.Thr258=)
c.921C= (p.Thr307=)
c.213C= (p.Thr71=)
n.287+10123G=
n.369G=
2g.222232093G>TCA431575591PAX3c.777C>A (p.Thr259=)
n.591C>A
c.774C>A (p.Thr258=)
c.921C>A (p.Thr307=)
c.213C>A (p.Thr71=)
n.287+10123G>T
n.369G>T
2g.222232094G>ACA351112177PAX3c.776C>T (p.Thr259Ile)
n.590C>T
c.773C>T (p.Thr258Ile)
c.920C>T (p.Thr307Ile)
c.212C>T (p.Thr71Ile)
n.287+10124G>A
2g.222232094G>CCA351112176PAX3c.776C>G (p.Thr259Ser)
n.590C>G
c.773C>G (p.Thr258Ser)
c.920C>G (p.Thr307Ser)
c.212C>G (p.Thr71Ser)
n.287+10124G>C
2g.222232094G>TCA351112178PAX3c.776C>A (p.Thr259Asn)
n.590C>A
c.773C>A (p.Thr258Asn)
c.920C>A (p.Thr307Asn)
c.212C>A (p.Thr71Asn)
n.287+10124G>T
2g.222232095T>ACA351112179PAX3c.775A>T (p.Thr259Ser)
n.589A>T
c.772A>T (p.Thr258Ser)
c.919A>T (p.Thr307Ser)
c.211A>T (p.Thr71Ser)
n.287+10125T>A
2g.222232095T>CCA351112181PAX3c.775A>G (p.Thr259Ala)
n.589A>G
c.772A>G (p.Thr258Ala)
c.919A>G (p.Thr307Ala)
c.211A>G (p.Thr71Ala)
n.287+10125T>C
2g.222232095T>GCA351112180PAX3c.775A>C (p.Thr259Pro)
n.589A>C
c.772A>C (p.Thr258Pro)
c.919A>C (p.Thr307Pro)
c.211A>C (p.Thr71Pro)
n.287+10125T>G
 gnomAD v4
2g.222232096G>ACA431575593PAX3c.774C>T (p.Leu258=)
n.588C>T
c.771C>T (p.Leu257=)
c.918C>T (p.Leu306=)
c.210C>T (p.Leu70=)
n.287+10126G>A
 gnomAD v4
2g.222232096G>CCA431575594PAX3c.774C>G (p.Leu258=)
n.588C>G
c.771C>G (p.Leu257=)
c.918C>G (p.Leu306=)
c.210C>G (p.Leu70=)
n.287+10126G>C
2g.222232096G>TCA431575595PAX3c.774C>A (p.Leu258=)
n.588C>A
c.771C>A (p.Leu257=)
c.918C>A (p.Leu306=)
c.210C>A (p.Leu70=)
n.287+10126G>T
 gnomAD v4
2g.222232097A>CCA351112182PAX3c.773T>G (p.Leu258Arg)
n.587T>G
c.770T>G (p.Leu257Arg)
c.917T>G (p.Leu306Arg)
c.209T>G (p.Leu70Arg)
n.287+10127A>C
2g.222232097A>GCA351112183PAX3c.773T>C (p.Leu258Pro)
n.587T>C
c.770T>C (p.Leu257Pro)
c.917T>C (p.Leu306Pro)
c.209T>C (p.Leu70Pro)
n.287+10127A>G
2g.222232097A>TCA351112184PAX3c.773T>A (p.Leu258His)
n.587T>A
c.770T>A (p.Leu257His)
c.917T>A (p.Leu306His)
c.209T>A (p.Leu70His)
n.287+10127A>T
2g.222232098G>ACA351112185PAX3c.772C>T (p.Leu258Phe)
n.586C>T
c.769C>T (p.Leu257Phe)
c.916C>T (p.Leu306Phe)
c.208C>T (p.Leu70Phe)
n.287+10128G>A
 dbSNP COSMIC COSMIC
2g.222232098G>CCA351112186PAX3c.772C>G (p.Leu258Val)
n.586C>G
c.769C>G (p.Leu257Val)
c.916C>G (p.Leu306Val)
c.208C>G (p.Leu70Val)
n.287+10128G>C
2g.222232098G=CA1330516208PAX3c.772C= (p.Leu258=)
n.586C=
c.769C= (p.Leu257=)
c.916C= (p.Leu306=)
c.208C= (p.Leu70=)
n.287+10128G=
2g.222232098G>TCA351112187PAX3c.772C>A (p.Leu258Ile)
n.586C>A
c.769C>A (p.Leu257Ile)
c.916C>A (p.Leu306Ile)
c.208C>A (p.Leu70Ile)
n.287+10128G>T
2g.222232099C>ACA351112188PAX3c.771G>T (p.Lys257Asn)
n.585G>T
c.768G>T (p.Lys256Asn)
c.915G>T (p.Lys305Asn)
c.207G>T (p.Lys69Asn)
n.287+10129C>A
2g.222232099C>GCA351112189PAX3c.771G>C (p.Lys257Asn)
n.585G>C
c.768G>C (p.Lys256Asn)
c.915G>C (p.Lys305Asn)
c.207G>C (p.Lys69Asn)
n.287+10129C>G
2g.222232099C>TCA431575596PAX3c.771G>A (p.Lys257=)
n.585G>A
c.768G>A (p.Lys256=)
c.915G>A (p.Lys305=)
c.207G>A (p.Lys69=)
n.287+10129C>T
 gnomAD v4
2g.222232100T>ACA351112190PAX3c.770A>T (p.Lys257Met)
n.584A>T
c.767A>T (p.Lys256Met)
c.914A>T (p.Lys305Met)
c.206A>T (p.Lys69Met)
n.287+10130T>A
2g.222232100T>CCA351112191PAX3c.770A>G (p.Lys257Arg)
n.584A>G
c.767A>G (p.Lys256Arg)
c.914A>G (p.Lys305Arg)
c.206A>G (p.Lys69Arg)
n.287+10130T>C
2g.222232100T>GCA351112192PAX3c.770A>C (p.Lys257Thr)
n.584A>C
c.767A>C (p.Lys256Thr)
c.914A>C (p.Lys305Thr)
c.206A>C (p.Lys69Thr)
n.287+10130T>G
2g.222232101T>ACA351112195PAX3c.769A>T (p.Lys257Ter)
n.583A>T
c.766A>T (p.Lys256Ter)
c.913A>T (p.Lys305Ter)
c.205A>T (p.Lys69Ter)
n.287+10131T>A
2g.222232101T>CCA351112193PAX3c.769A>G (p.Lys257Glu)
n.583A>G
c.766A>G (p.Lys256Glu)
c.913A>G (p.Lys305Glu)
c.205A>G (p.Lys69Glu)
n.287+10131T>C
2g.222232101T>GCA351112194PAX3c.769A>C (p.Lys257Gln)
n.583A>C
c.766A>C (p.Lys256Gln)
c.913A>C (p.Lys305Gln)
c.205A>C (p.Lys69Gln)
n.287+10131T>G
2g.222232102delCA2573135303PAX3c.768del (p.Lys257SerfsTer27)
n.582del
c.765del (p.Lys256SerfsTer27)
c.912del (p.Lys305SerfsTer27)
c.204del (p.Lys69SerfsTer27)
n.287+10132del
 ClinVar dbSNP
2g.222232102C>ACA431575597PAX3c.768G>T (p.Ala256=)
n.582G>T
c.765G>T (p.Ala255=)
c.912G>T (p.Ala304=)
c.204G>T (p.Ala68=)
n.287+10132C>A
2g.222232102C=CA1330516209PAX3c.768G= (p.Ala256=)
n.582G=
c.765G= (p.Ala255=)
c.912G= (p.Ala304=)
c.204G= (p.Ala68=)
n.287+10132C=
2g.222232102C>GCA431575598PAX3c.768G>C (p.Ala256=)
n.582G>C
c.765G>C (p.Ala255=)
c.912G>C (p.Ala304=)
c.204G>C (p.Ala68=)
n.287+10132C>G
2g.222232102C>TCA2135587PAX3c.768G>A (p.Ala256=)
n.582G>A
c.765G>A (p.Ala255=)
c.912G>A (p.Ala304=)
c.204G>A (p.Ala68=)
n.287+10132C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222232103G>ACA2135588PAX3c.767C>T (p.Ala256Val)
n.581C>T
c.764C>T (p.Ala255Val)
c.911C>T (p.Ala304Val)
c.203C>T (p.Ala68Val)
n.287+10133G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222232103G>CCA351112196PAX3c.767C>G (p.Ala256Gly)
n.581C>G
c.764C>G (p.Ala255Gly)
c.911C>G (p.Ala304Gly)
c.203C>G (p.Ala68Gly)
n.287+10133G>C
2g.222232103G=CA1330516210PAX3c.767C= (p.Ala256=)
n.581C=
c.764C= (p.Ala255=)
c.911C= (p.Ala304=)
c.203C= (p.Ala68=)
n.287+10133G=
2g.222232103G>TCA351112197PAX3c.767C>A (p.Ala256Glu)
n.581C>A
c.764C>A (p.Ala255Glu)
c.911C>A (p.Ala304Glu)
c.203C>A (p.Ala68Glu)
n.287+10133G>T
2g.222232104C>ACA351112198PAX3c.766G>T (p.Ala256Ser)
n.580G>T
c.763G>T (p.Ala255Ser)
c.910G>T (p.Ala304Ser)
c.202G>T (p.Ala68Ser)
n.287+10134C>A
2g.222232104C>GCA351112199PAX3c.766G>C (p.Ala256Pro)
n.580G>C
c.763G>C (p.Ala255Pro)
c.910G>C (p.Ala304Pro)
c.202G>C (p.Ala68Pro)
n.287+10134C>G
2g.222232104C>TCA351112200PAX3c.766G>A (p.Ala256Thr)
n.580G>A
c.763G>A (p.Ala255Thr)
c.910G>A (p.Ala304Thr)
c.202G>A (p.Ala68Thr)
n.287+10134C>T
2g.222232105C>ACA351112201PAX3c.765G>T (p.Arg255Ser)
n.579G>T
c.762G>T (p.Arg254Ser)
c.909G>T (p.Arg303Ser)
c.201G>T (p.Arg67Ser)
n.287+10135C>A
 gnomAD v4
2g.222232105C=CA1330516211PAX3c.765G= (p.Arg255=)
n.579G=
c.762G= (p.Arg254=)
c.909G= (p.Arg303=)
c.201G= (p.Arg67=)
n.287+10135C=
2g.222232105C>GCA351112202PAX3c.765G>C (p.Arg255Ser)
n.579G>C
c.762G>C (p.Arg254Ser)
c.909G>C (p.Arg303Ser)
c.201G>C (p.Arg67Ser)
n.287+10135C>G
2g.222232105C>TCA2135589PAX3c.765G>A (p.Arg255=)
n.579G>A
c.762G>A (p.Arg254=)
c.909G>A (p.Arg303=)
c.201G>A (p.Arg67=)
n.287+10135C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222232106C>ACA351112203PAX3c.764G>T (p.Arg255Met)
n.578G>T
c.761G>T (p.Arg254Met)
c.908G>T (p.Arg303Met)
c.200G>T (p.Arg67Met)
n.287+10136C>A
2g.222232106C=CA1330516212PAX3c.764G= (p.Arg255=)
n.578G=
c.761G= (p.Arg254=)
c.908G= (p.Arg303=)
c.200G= (p.Arg67=)
n.287+10136C=
2g.222232106C>GCA351112204PAX3c.764G>C (p.Arg255Thr)
n.578G>C
c.761G>C (p.Arg254Thr)
c.908G>C (p.Arg303Thr)
c.200G>C (p.Arg67Thr)
n.287+10136C>G
2g.222232106C>TCA2135590PAX3c.764G>A (p.Arg255Lys)
n.578G>A
c.761G>A (p.Arg254Lys)
c.908G>A (p.Arg303Lys)
c.200G>A (p.Arg67Lys)
n.287+10136C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222232107T>ACA351112205PAX3c.763A>T (p.Arg255Trp)
n.577A>T
c.760A>T (p.Arg254Trp)
c.907A>T (p.Arg303Trp)
c.199A>T (p.Arg67Trp)
n.287+10137T>A
2g.222232107T>CCA351112206PAX3c.763A>G (p.Arg255Gly)
n.577A>G
c.760A>G (p.Arg254Gly)
c.907A>G (p.Arg303Gly)
c.199A>G (p.Arg67Gly)
n.287+10137T>C
2g.222232107T>GCA431575599PAX3c.763A>C (p.Arg255=)
n.577A>C
c.760A>C (p.Arg254=)
c.907A>C (p.Arg303=)
c.199A>C (p.Arg67=)
n.287+10137T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222232107T=CA1330516213PAX3c.763A= (p.Arg255=)
n.577A=
c.760A= (p.Arg254=)
c.907A= (p.Arg303=)
c.199A= (p.Arg67=)
n.287+10137T=
2g.222232108C>ACA351112207PAX3c.762G>T (p.Gln254His)
n.576G>T
c.759G>T (p.Gln253His)
c.906G>T (p.Gln302His)
c.198G>T (p.Gln66His)
n.287+10138C>A
2g.222232108C=CA1330516214PAX3c.762G= (p.Gln254=)
n.576G=
c.759G= (p.Gln253=)
c.906G= (p.Gln302=)
c.198G= (p.Gln66=)
n.287+10138C=
2g.222232108C>GCA351112208PAX3c.762G>C (p.Gln254His)
n.576G>C
c.759G>C (p.Gln253His)
c.906G>C (p.Gln302His)
c.198G>C (p.Gln66His)
n.287+10138C>G
2g.222232108C>TCA2135591PAX3c.762G>A (p.Gln254=)
n.576G>A
c.759G>A (p.Gln253=)
c.906G>A (p.Gln302=)
c.198G>A (p.Gln66=)
n.287+10138C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222232109T>ACA351112211PAX3c.761A>T (p.Gln254Leu)
n.575A>T
c.758A>T (p.Gln253Leu)
c.905A>T (p.Gln302Leu)
c.197A>T (p.Gln66Leu)
n.287+10139T>A
2g.222232109T>CCA351112210PAX3c.761A>G (p.Gln254Arg)
n.575A>G
c.758A>G (p.Gln253Arg)
c.905A>G (p.Gln302Arg)
c.197A>G (p.Gln66Arg)
n.287+10139T>C
2g.222232109T>GCA351112209PAX3c.761A>C (p.Gln254Pro)
n.575A>C
c.758A>C (p.Gln253Pro)
c.905A>C (p.Gln302Pro)
c.197A>C (p.Gln66Pro)
n.287+10139T>G
2g.222232110G>ACA351112212PAX3c.760C>T (p.Gln254Ter)
n.574C>T
c.757C>T (p.Gln253Ter)
c.904C>T (p.Gln302Ter)
c.196C>T (p.Gln66Ter)
n.287+10140G>A
 COSMIC COSMIC
2g.222232110G>CCA351112213PAX3c.760C>G (p.Gln254Glu)
n.574C>G
c.757C>G (p.Gln253Glu)
c.904C>G (p.Gln302Glu)
c.196C>G (p.Gln66Glu)
n.287+10140G>C
2g.222232110G>TCA351112214PAX3c.760C>A (p.Gln254Lys)
n.574C>A
c.757C>A (p.Gln253Lys)
c.904C>A (p.Gln302Lys)
c.196C>A (p.Gln66Lys)
n.287+10140G>T
2g.222232111G>ACA431575600PAX3c.759C>T (p.Ala253=)
n.573C>T
c.756C>T (p.Ala252=)
c.903C>T (p.Ala301=)
c.195C>T (p.Ala65=)
n.287+10141G>A
2g.222232111G>CCA431575601PAX3c.759C>G (p.Ala253=)
n.573C>G
c.756C>G (p.Ala252=)
c.903C>G (p.Ala301=)
c.195C>G (p.Ala65=)
n.287+10141G>C
2g.222232111G>TCA431575602PAX3c.759C>A (p.Ala253=)
n.573C>A
c.756C>A (p.Ala252=)
c.903C>A (p.Ala301=)
c.195C>A (p.Ala65=)
n.287+10141G>T
2g.222232112G>ACA351112215PAX3c.758C>T (p.Ala253Val)
n.572C>T
c.755C>T (p.Ala252Val)
c.902C>T (p.Ala301Val)
c.194C>T (p.Ala65Val)
n.287+10142G>A
2g.222232112G>CCA351112217PAX3c.758C>G (p.Ala253Gly)
n.572C>G
c.755C>G (p.Ala252Gly)
c.902C>G (p.Ala301Gly)
c.194C>G (p.Ala65Gly)
n.287+10142G>C
2g.222232112G>TCA351112219PAX3c.758C>A (p.Ala253Asp)
n.572C>A
c.755C>A (p.Ala252Asp)
c.902C>A (p.Ala301Asp)
c.194C>A (p.Ala65Asp)
n.287+10142G>T
2g.222232113C>ACA351112221PAX3c.757G>T (p.Ala253Ser)
n.571G>T
c.754G>T (p.Ala252Ser)
c.901G>T (p.Ala301Ser)
c.193G>T (p.Ala65Ser)
n.287+10143C>A
2g.222232113C>GCA351112224PAX3c.757G>C (p.Ala253Pro)
n.571G>C
c.754G>C (p.Ala252Pro)
c.901G>C (p.Ala301Pro)
c.193G>C (p.Ala65Pro)
n.287+10143C>G
2g.222232113C>TCA351112222PAX3c.757G>A (p.Ala253Thr)
n.571G>A
c.754G>A (p.Ala252Thr)
c.901G>A (p.Ala301Thr)
c.193G>A (p.Ala65Thr)
n.287+10143C>T
 gnomAD v4
2g.222232114C>ACA431575603PAX3c.756G>T (p.Leu252=)
n.570G>T
c.753G>T (p.Leu251=)
c.900G>T (p.Leu300=)
c.192G>T (p.Leu64=)
n.287+10144C>A
2g.222232114C=CA1330516215PAX3c.756G= (p.Leu252=)
n.570G=
c.753G= (p.Leu251=)
c.900G= (p.Leu300=)
c.192G= (p.Leu64=)
n.287+10144C=
2g.222232114C>GCA66333341PAX3c.756G>C (p.Leu252=)
n.570G>C
c.753G>C (p.Leu251=)
c.900G>C (p.Leu300=)
c.192G>C (p.Leu64=)
n.287+10144C>G
 dbSNP
2g.222232114C>TCA2135592PAX3c.756G>A (p.Leu252=)
n.570G>A
c.753G>A (p.Leu251=)
c.900G>A (p.Leu300=)
c.192G>A (p.Leu64=)
n.287+10144C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222232115A=CA1330516216PAX3c.755T= (p.Leu252=)
n.569T=
c.752T= (p.Leu251=)
c.899T= (p.Leu300=)
c.191T= (p.Leu64=)
n.287+10145A=
2g.222232115A>CCA351112227PAX3c.755T>G (p.Leu252Arg)
n.569T>G
c.752T>G (p.Leu251Arg)
c.899T>G (p.Leu300Arg)
c.191T>G (p.Leu64Arg)
n.287+10145A>C
2g.222232115A>GCA351112229PAX3c.755T>C (p.Leu252Pro)
n.569T>C
c.752T>C (p.Leu251Pro)
c.899T>C (p.Leu300Pro)
c.191T>C (p.Leu64Pro)
n.287+10145A>G
 ClinVar dbSNP
2g.222232115A>TCA351112231PAX3c.755T>A (p.Leu252Gln)
n.569T>A
c.752T>A (p.Leu251Gln)
c.899T>A (p.Leu300Gln)
c.191T>A (p.Leu64Gln)
n.287+10145A>T
2g.222232116G>ACA431575604PAX3c.754C>T (p.Leu252=)
n.568C>T
c.751C>T (p.Leu251=)
c.898C>T (p.Leu300=)
c.190C>T (p.Leu64=)
n.287+10146G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222232116G>CCA351112233PAX3c.754C>G (p.Leu252Val)
n.568C>G
c.751C>G (p.Leu251Val)
c.898C>G (p.Leu300Val)
c.190C>G (p.Leu64Val)
n.287+10146G>C
2g.222232116G=CA1330516217PAX3c.754C= (p.Leu252=)
n.568C=
c.751C= (p.Leu251=)
c.898C= (p.Leu300=)
c.190C= (p.Leu64=)
n.287+10146G=
2g.222232116G>TCA351112235PAX3c.754C>A (p.Leu252Met)
n.568C>A
c.751C>A (p.Leu251Met)
c.898C>A (p.Leu300Met)
c.190C>A (p.Leu64Met)
n.287+10146G>T
2g.222232117T>ACA351112237PAX3c.753A>T (p.Glu251Asp)
n.567A>T
c.750A>T (p.Glu250Asp)
c.897A>T (p.Glu299Asp)
c.189A>T (p.Glu63Asp)
n.287+10147T>A
2g.222232117T>CCA431575605PAX3c.753A>G (p.Glu251=)
n.567A>G
c.750A>G (p.Glu250=)
c.897A>G (p.Glu299=)
c.189A>G (p.Glu63=)
n.287+10147T>C
 dbSNP gnomAD v4
2g.222232117T>GCA351112238PAX3c.753A>C (p.Glu251Asp)
n.567A>C
c.750A>C (p.Glu250Asp)
c.897A>C (p.Glu299Asp)
c.189A>C (p.Glu63Asp)
n.287+10147T>G
2g.222232117T=CA1330516218PAX3c.753A= (p.Glu251=)
n.567A=
c.750A= (p.Glu250=)
c.897A= (p.Glu299=)
c.189A= (p.Glu63=)
n.287+10147T=
2g.222232118T>ACA351112240PAX3c.752A>T (p.Glu251Val)
n.566A>T
c.749A>T (p.Glu250Val)
c.896A>T (p.Glu299Val)
c.188A>T (p.Glu63Val)
n.287+10148T>A
2g.222232118T>CCA351112241PAX3c.752A>G (p.Glu251Gly)
n.566A>G
c.749A>G (p.Glu250Gly)
c.896A>G (p.Glu299Gly)
c.188A>G (p.Glu63Gly)
n.287+10148T>C
 gnomAD v4
2g.222232118T>GCA351112243PAX3c.752A>C (p.Glu251Ala)
n.566A>C
c.749A>C (p.Glu250Ala)
c.896A>C (p.Glu299Ala)
c.188A>C (p.Glu63Ala)
n.287+10148T>G
2g.222232119C>ACA351112249PAX3c.751G>T (p.Glu251Ter)
n.565G>T
c.748G>T (p.Glu250Ter)
c.895G>T (p.Glu299Ter)
c.187G>T (p.Glu63Ter)
n.287+10149C>A
 gnomAD v4
2g.222232119C>GCA351112247PAX3c.751G>C (p.Glu251Gln)
n.565G>C
c.748G>C (p.Glu250Gln)
c.895G>C (p.Glu299Gln)
c.187G>C (p.Glu63Gln)
n.287+10149C>G
2g.222232119C>TCA351112245PAX3c.751G>A (p.Glu251Lys)
n.565G>A
c.748G>A (p.Glu250Lys)
c.895G>A (p.Glu299Lys)
c.187G>A (p.Glu63Lys)
n.287+10149C>T
 COSMIC COSMIC
2g.222232120C>ACA351112251PAX3c.750G>T (p.Glu250Asp)
n.564G>T
c.747G>T (p.Glu249Asp)
c.894G>T (p.Glu298Asp)
c.186G>T (p.Glu62Asp)
n.287+10150C>A
2g.222232120C>GCA351112253PAX3c.750G>C (p.Glu250Asp)
n.564G>C
c.747G>C (p.Glu249Asp)
c.894G>C (p.Glu298Asp)
c.186G>C (p.Glu62Asp)
n.287+10150C>G
2g.222232120C>TCA431575606PAX3c.750G>A (p.Glu250=)
n.564G>A
c.747G>A (p.Glu249=)
c.894G>A (p.Glu298=)
c.186G>A (p.Glu62=)
n.287+10150C>T
2g.222232121T>ACA351112255PAX3c.749A>T (p.Glu250Val)
n.563A>T
c.746A>T (p.Glu249Val)
c.893A>T (p.Glu298Val)
c.185A>T (p.Glu62Val)
n.287+10151T>A
2g.222232121T>CCA351112256PAX3c.749A>G (p.Glu250Gly)
n.563A>G
c.746A>G (p.Glu249Gly)
c.893A>G (p.Glu298Gly)
c.185A>G (p.Glu62Gly)
n.287+10151T>C
2g.222232121T>GCA351112257PAX3c.749A>C (p.Glu250Ala)
n.563A>C
c.746A>C (p.Glu249Ala)
c.893A>C (p.Glu298Ala)
c.185A>C (p.Glu62Ala)
n.287+10151T>G
2g.222232121T=CA1330516219PAX3c.749A= (p.Glu250=)
n.563A=
c.746A= (p.Glu249=)
c.893A= (p.Glu298=)
c.185A= (p.Glu62=)
n.287+10151T=
2g.222232122C>ACA351112259PAX3c.748G>T (p.Glu250Ter)
n.562G>T
c.745G>T (p.Glu249Ter)
c.892G>T (p.Glu298Ter)
c.184G>T (p.Glu62Ter)
n.287+10152C>A
2g.222232122C>GCA351112260PAX3c.748G>C (p.Glu250Gln)
n.562G>C
c.745G>C (p.Glu249Gln)
c.892G>C (p.Glu298Gln)
c.184G>C (p.Glu62Gln)
n.287+10152C>G
2g.222232122C>TCA351112262PAX3c.748G>A (p.Glu250Lys)
n.562G>A
c.745G>A (p.Glu249Lys)
c.892G>A (p.Glu298Lys)
c.184G>A (p.Glu62Lys)
n.287+10152C>T
 gnomAD v4
2g.222232124dupCA915941737PAX3c.748dup (p.Glu250GlyfsTer19)
n.562dup
c.745dup (p.Glu249GlyfsTer19)
c.892dup (p.Glu298GlyfsTer19)
c.184dup (p.Glu62GlyfsTer19)
n.287+10154dup
 ClinVar dbSNP
2g.222232123C>ACA351112264PAX3c.747G>T (p.Arg249Ser)
n.561G>T
c.744G>T (p.Arg248Ser)
c.891G>T (p.Arg297Ser)
c.183G>T (p.Arg61Ser)
n.287+10153C>A
2g.222232123C=CA1330516220PAX3c.747G= (p.Arg249=)
n.561G=
c.744G= (p.Arg248=)
c.891G= (p.Arg297=)
c.183G= (p.Arg61=)
n.287+10153C=
2g.222232123C>GCA351112266PAX3c.747G>C (p.Arg249Ser)
n.561G>C
c.744G>C (p.Arg248Ser)
c.891G>C (p.Arg297Ser)
c.183G>C (p.Arg61Ser)
n.287+10153C>G
2g.222232123C>TCA66333342PAX3c.747G>A (p.Arg249=)
n.561G>A
c.744G>A (p.Arg248=)
c.891G>A (p.Arg297=)
c.183G>A (p.Arg61=)
n.287+10153C>T
 dbSNP
2g.222232124C>ACA351112267PAX3c.746G>T (p.Arg249Met)
n.560G>T
c.743G>T (p.Arg248Met)
c.890G>T (p.Arg297Met)
c.182G>T (p.Arg61Met)
n.287+10154C>A
2g.222232124C>GCA351112269PAX3c.746G>C (p.Arg249Thr)
n.560G>C
c.743G>C (p.Arg248Thr)
c.890G>C (p.Arg297Thr)
c.182G>C (p.Arg61Thr)
n.287+10154C>G
2g.222232124C>TCA351112271PAX3c.746G>A (p.Arg249Lys)
n.560G>A
c.743G>A (p.Arg248Lys)
c.890G>A (p.Arg297Lys)
c.182G>A (p.Arg61Lys)
n.287+10154C>T
2g.222232125T>ACA351112273PAX3c.745A>T (p.Arg249Trp)
n.559A>T
c.742A>T (p.Arg248Trp)
c.889A>T (p.Arg297Trp)
c.181A>T (p.Arg61Trp)
n.287+10155T>A
2g.222232125T>CCA351112275PAX3c.745A>G (p.Arg249Gly)
n.559A>G
c.742A>G (p.Arg248Gly)
c.889A>G (p.Arg297Gly)
c.181A>G (p.Arg61Gly)
n.287+10155T>C
2g.222232125T>GCA431575607PAX3c.745A>C (p.Arg249=)
n.559A>C
c.742A>C (p.Arg248=)
c.889A>C (p.Arg297=)
c.181A>C (p.Arg61=)
n.287+10155T>G
2g.222232126A>CCA431575608PAX3c.744T>G (p.Thr248=)
n.558T>G
c.741T>G (p.Thr247=)
c.888T>G (p.Thr296=)
c.180T>G (p.Thr60=)
n.287+10156A>C
2g.222232126A>GCA431575609PAX3c.744T>C (p.Thr248=)
n.558T>C
c.741T>C (p.Thr247=)
c.888T>C (p.Thr296=)
c.180T>C (p.Thr60=)
n.287+10156A>G
 dbSNP
2g.222232126A>TCA431575610PAX3c.744T>A (p.Thr248=)
n.558T>A
c.741T>A (p.Thr247=)
c.888T>A (p.Thr296=)
c.180T>A (p.Thr60=)
n.287+10156A>T
2g.222232127G>ACA351112277PAX3c.743C>T (p.Thr248Ile)
n.557C>T
c.740C>T (p.Thr247Ile)
c.887C>T (p.Thr296Ile)
c.179C>T (p.Thr60Ile)
n.287+10157G>A
 gnomAD v4
2g.222232127G>CCA351112281PAX3c.743C>G (p.Thr248Ser)
n.557C>G
c.740C>G (p.Thr247Ser)
c.887C>G (p.Thr296Ser)
c.179C>G (p.Thr60Ser)
n.287+10157G>C
2g.222232127G>TCA351112279PAX3c.743C>A (p.Thr248Asn)
n.557C>A
c.740C>A (p.Thr247Asn)
c.887C>A (p.Thr296Asn)
c.179C>A (p.Thr60Asn)
n.287+10157G>T
2g.222232128T>ACA351112283PAX3c.742A>T (p.Thr248Ser)
n.556A>T
c.739A>T (p.Thr247Ser)
c.886A>T (p.Thr296Ser)
c.178A>T (p.Thr60Ser)
n.287+10158T>A
2g.222232128T>CCA351112284PAX3c.742A>G (p.Thr248Ala)
n.556A>G
c.739A>G (p.Thr247Ala)
c.886A>G (p.Thr296Ala)
c.178A>G (p.Thr60Ala)
n.287+10158T>C
2g.222232128T>GCA351112286PAX3c.742A>C (p.Thr248Pro)
n.556A>C
c.739A>C (p.Thr247Pro)
c.886A>C (p.Thr296Pro)
c.178A>C (p.Thr60Pro)
n.287+10158T>G
2g.222232129A=CA1330516221PAX3c.741T= (p.Tyr247=)
n.555T=
c.738T= (p.Tyr246=)
c.885T= (p.Tyr295=)
c.177T= (p.Tyr59=)
n.287+10159A=
2g.222232129A>CCA351112288PAX3c.741T>G (p.Tyr247Ter)
n.555T>G
c.738T>G (p.Tyr246Ter)
c.885T>G (p.Tyr295Ter)
c.177T>G (p.Tyr59Ter)
n.287+10159A>C
2g.222232129A>GCA431575611PAX3c.741T>C (p.Tyr247=)
n.555T>C
c.738T>C (p.Tyr246=)
c.885T>C (p.Tyr295=)
c.177T>C (p.Tyr59=)
n.287+10159A>G
 dbSNP gnomAD v4
2g.222232129A>TCA351112290PAX3c.741T>A (p.Tyr247Ter)
n.555T>A
c.738T>A (p.Tyr246Ter)
c.885T>A (p.Tyr295Ter)
c.177T>A (p.Tyr59Ter)
n.287+10159A>T
2g.222232130T>ACA351112292PAX3c.740A>T (p.Tyr247Phe)
n.554A>T
c.737A>T (p.Tyr246Phe)
c.884A>T (p.Tyr295Phe)
c.176A>T (p.Tyr59Phe)
n.287+10160T>A
2g.222232130T>CCA351112294PAX3c.740A>G (p.Tyr247Cys)
n.554A>G
c.737A>G (p.Tyr246Cys)
c.884A>G (p.Tyr295Cys)
c.176A>G (p.Tyr59Cys)
n.287+10160T>C
2g.222232130T>GCA66333343PAX3c.740A>C (p.Tyr247Ser)
n.554A>C
c.737A>C (p.Tyr246Ser)
c.884A>C (p.Tyr295Ser)
c.176A>C (p.Tyr59Ser)
n.287+10160T>G
 dbSNP
2g.222232130T=CA1330516222PAX3c.740A= (p.Tyr247=)
n.554A=
c.737A= (p.Tyr246=)
c.884A= (p.Tyr295=)
c.176A= (p.Tyr59=)
n.287+10160T=
2g.222232130_222232143delinsTAAATGTCAGGGTACA1330516223PAX3c.727_740delinsTACCCTGACATTTA (p.Tyr243=)
n.541_554delinsTACCCTGACATTTA
c.724_737delinsTACCCTGACATTTA (p.Tyr242=)
c.871_884delinsTACCCTGACATTTA (p.Tyr291=)
c.163_176delinsTACCCTGACATTTA (p.Tyr55=)
n.287+10160_287+10173delinsTAAATGTCAGGGTA
2g.222232131A>CCA351112298PAX3c.739T>G (p.Tyr247Asp)
n.553T>G
c.736T>G (p.Tyr246Asp)
c.883T>G (p.Tyr295Asp)
c.175T>G (p.Tyr59Asp)
n.287+10161A>C
2g.222232131A>GCA351112300PAX3c.739T>C (p.Tyr247His)
n.553T>C
c.736T>C (p.Tyr246His)
c.883T>C (p.Tyr295His)
c.175T>C (p.Tyr59His)
n.287+10161A>G
2g.222232131A>TCA351112301PAX3c.739T>A (p.Tyr247Asn)
n.553T>A
c.736T>A (p.Tyr246Asn)
c.883T>A (p.Tyr295Asn)
c.175T>A (p.Tyr59Asn)
n.287+10161A>T
2g.222232132_222232144delCA658796184PAX3c.727_739del (p.Tyr243IlefsTer?)
n.541_553del
c.724_736del (p.Tyr242IlefsTer?)
c.871_883del (p.Tyr291IlefsTer?)
c.163_175del (p.Tyr55IlefsTer?)
n.287+10162_287+10174del
 ClinVar dbSNP
2g.222232132A=CA1330516224PAX3c.738T= (p.Ile246=)
n.552T=
c.735T= (p.Ile245=)
c.882T= (p.Ile294=)
c.174T= (p.Ile58=)
n.287+10162A=
2g.222232132A>CCA351112302PAX3c.738T>G (p.Ile246Met)
n.552T>G
c.735T>G (p.Ile245Met)
c.882T>G (p.Ile294Met)
c.174T>G (p.Ile58Met)
n.287+10162A>C
2g.222232132A>GCA431575612PAX3c.738T>C (p.Ile246=)
n.552T>C
c.735T>C (p.Ile245=)
c.882T>C (p.Ile294=)
c.174T>C (p.Ile58=)
n.287+10162A>G
 dbSNP
2g.222232132A>TCA431575613PAX3c.738T>A (p.Ile246=)
n.552T>A
c.735T>A (p.Ile245=)
c.882T>A (p.Ile294=)
c.174T>A (p.Ile58=)
n.287+10162A>T
2g.222232133A>CCA351112308PAX3c.737T>G (p.Ile246Ser)
n.551T>G
c.734T>G (p.Ile245Ser)
c.881T>G (p.Ile294Ser)
c.173T>G (p.Ile58Ser)
n.287+10163A>C
2g.222232133A>GCA351112304PAX3c.737T>C (p.Ile246Thr)
n.551T>C
c.734T>C (p.Ile245Thr)
c.881T>C (p.Ile294Thr)
c.173T>C (p.Ile58Thr)
n.287+10163A>G
2g.222232133A>TCA351112306PAX3c.737T>A (p.Ile246Asn)
n.551T>A
c.734T>A (p.Ile245Asn)
c.881T>A (p.Ile294Asn)
c.173T>A (p.Ile58Asn)
n.287+10163A>T
2g.222232134T>ACA351112311PAX3c.736A>T (p.Ile246Phe)
n.550A>T
c.733A>T (p.Ile245Phe)
c.880A>T (p.Ile294Phe)
c.172A>T (p.Ile58Phe)
n.287+10164T>A
2g.222232134T>CCA351112312PAX3c.736A>G (p.Ile246Val)
n.550A>G
c.733A>G (p.Ile245Val)
c.880A>G (p.Ile294Val)
c.172A>G (p.Ile58Val)
n.287+10164T>C
 gnomAD v4
2g.222232134T>GCA351112314PAX3c.736A>C (p.Ile246Leu)
n.550A>C
c.733A>C (p.Ile245Leu)
c.880A>C (p.Ile294Leu)
c.172A>C (p.Ile58Leu)
n.287+10164T>G
2g.222232135G>ACA2135593PAX3c.735C>T (p.Asp245=)
n.549C>T
c.732C>T (p.Asp244=)
c.879C>T (p.Asp293=)
c.171C>T (p.Asp57=)
n.287+10165G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222232135G>CCA351112318PAX3c.735C>G (p.Asp245Glu)
n.549C>G
c.732C>G (p.Asp244Glu)
c.879C>G (p.Asp293Glu)
c.171C>G (p.Asp57Glu)
n.287+10165G>C
 COSMIC COSMIC
2g.222232135G=CA1330516225PAX3c.735C= (p.Asp245=)
n.549C=
c.732C= (p.Asp244=)
c.879C= (p.Asp293=)
c.171C= (p.Asp57=)
n.287+10165G=
2g.222232135G>TCA351112316PAX3c.735C>A (p.Asp245Glu)
n.549C>A
c.732C>A (p.Asp244Glu)
c.879C>A (p.Asp293Glu)
c.171C>A (p.Asp57Glu)
n.287+10165G>T
2g.222232136T>ACA351112322PAX3c.734A>T (p.Asp245Val)
n.548A>T
c.731A>T (p.Asp244Val)
c.878A>T (p.Asp293Val)
c.170A>T (p.Asp57Val)
n.287+10166T>A
2g.222232136T>CCA351112336PAX3c.734A>G (p.Asp245Gly)
n.548A>G
c.731A>G (p.Asp244Gly)
c.878A>G (p.Asp293Gly)
c.170A>G (p.Asp57Gly)
n.287+10166T>C
2g.222232136T>GCA351112338PAX3c.734A>C (p.Asp245Ala)
n.548A>C
c.731A>C (p.Asp244Ala)
c.878A>C (p.Asp293Ala)
c.170A>C (p.Asp57Ala)
n.287+10166T>G
2g.222232137C>ACA351112339PAX3c.733G>T (p.Asp245Tyr)
n.547G>T
c.730G>T (p.Asp244Tyr)
c.877G>T (p.Asp293Tyr)
c.169G>T (p.Asp57Tyr)
n.287+10167C>A
2g.222232137C>GCA351112341PAX3c.733G>C (p.Asp245His)
n.547G>C
c.730G>C (p.Asp244His)
c.877G>C (p.Asp293His)
c.169G>C (p.Asp57His)
n.287+10167C>G
2g.222232137C>TCA351112342PAX3c.733G>A (p.Asp245Asn)
n.547G>A
c.730G>A (p.Asp244Asn)
c.877G>A (p.Asp293Asn)
c.169G>A (p.Asp57Asn)
n.287+10167C>T
2g.222232138A>CCA431575616PAX3c.732T>G (p.Pro244=)
n.546T>G
c.729T>G (p.Pro243=)
c.876T>G (p.Pro292=)
c.168T>G (p.Pro56=)
n.287+10168A>C
2g.222232138A>GCA431575615PAX3c.732T>C (p.Pro244=)
n.546T>C
c.729T>C (p.Pro243=)
c.876T>C (p.Pro292=)
c.168T>C (p.Pro56=)
n.287+10168A>G
2g.222232138A>TCA431575614PAX3c.732T>A (p.Pro244=)
n.546T>A
c.729T>A (p.Pro243=)
c.876T>A (p.Pro292=)
c.168T>A (p.Pro56=)
n.287+10168A>T
2g.222232139G>ACA2135594PAX3c.731C>T (p.Pro244Leu)
n.545C>T
c.728C>T (p.Pro243Leu)
c.875C>T (p.Pro292Leu)
c.167C>T (p.Pro56Leu)
n.287+10169G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222232139G>CCA351112347PAX3c.731C>G (p.Pro244Arg)
n.545C>G
c.728C>G (p.Pro243Arg)
c.875C>G (p.Pro292Arg)
c.167C>G (p.Pro56Arg)
n.287+10169G>C
2g.222232139G=CA1330516226PAX3c.731C= (p.Pro244=)
n.545C=
c.728C= (p.Pro243=)
c.875C= (p.Pro292=)
c.167C= (p.Pro56=)
n.287+10169G=
2g.222232139G>TCA351112345PAX3c.731C>A (p.Pro244His)
n.545C>A
c.728C>A (p.Pro243His)
c.875C>A (p.Pro292His)
c.167C>A (p.Pro56His)
n.287+10169G>T
 ClinVar dbSNP
2g.222232140G>ACA351112349PAX3c.730C>T (p.Pro244Ser)
n.544C>T
c.727C>T (p.Pro243Ser)
c.874C>T (p.Pro292Ser)
c.166C>T (p.Pro56Ser)
n.287+10170G>A
 ClinVar dbSNP
2g.222232140G>CCA351112351PAX3c.730C>G (p.Pro244Ala)
n.544C>G
c.727C>G (p.Pro243Ala)
c.874C>G (p.Pro292Ala)
c.166C>G (p.Pro56Ala)
n.287+10170G>C
2g.222232140G=CA1330516227PAX3c.730C= (p.Pro244=)
n.544C=
c.727C= (p.Pro243=)
c.874C= (p.Pro292=)
c.166C= (p.Pro56=)
n.287+10170G=
2g.222232140G>TCA351112353PAX3c.730C>A (p.Pro244Thr)
n.544C>A
c.727C>A (p.Pro243Thr)
c.874C>A (p.Pro292Thr)
c.166C>A (p.Pro56Thr)
n.287+10170G>T
2g.222232141G>ACA431575617PAX3c.729C>T (p.Tyr243=)
n.543C>T
c.726C>T (p.Tyr242=)
c.873C>T (p.Tyr291=)
c.165C>T (p.Tyr55=)
n.287+10171G>A
 dbSNP gnomAD v2 gnomAD v4
2g.222232141G>CCA351112355PAX3c.729C>G (p.Tyr243Ter)
n.543C>G
c.726C>G (p.Tyr242Ter)
c.873C>G (p.Tyr291Ter)
c.165C>G (p.Tyr55Ter)
n.287+10171G>C
2g.222232141G=CA1330516228PAX3c.729C= (p.Tyr243=)
n.543C=
c.726C= (p.Tyr242=)
c.873C= (p.Tyr291=)
c.165C= (p.Tyr55=)
n.287+10171G=
2g.222232141G>TCA351112357PAX3c.729C>A (p.Tyr243Ter)
n.543C>A
c.726C>A (p.Tyr242Ter)
c.873C>A (p.Tyr291Ter)
c.165C>A (p.Tyr55Ter)
n.287+10171G>T
2g.222232142T>ACA351112359PAX3c.728A>T (p.Tyr243Phe)
n.542A>T
c.725A>T (p.Tyr242Phe)
c.872A>T (p.Tyr291Phe)
c.164A>T (p.Tyr55Phe)
n.287+10172T>A
2g.222232142T>CCA351112360PAX3c.728A>G (p.Tyr243Cys)
n.542A>G
c.725A>G (p.Tyr242Cys)
c.872A>G (p.Tyr291Cys)
c.164A>G (p.Tyr55Cys)
n.287+10172T>C
2g.222232142T>GCA351112363PAX3c.728A>C (p.Tyr243Ser)
n.542A>C
c.725A>C (p.Tyr242Ser)
c.872A>C (p.Tyr291Ser)
c.164A>C (p.Tyr55Ser)
n.287+10172T>G
2g.222232143A>CCA351112364PAX3c.727T>G (p.Tyr243Asp)
n.541T>G
c.724T>G (p.Tyr242Asp)
c.871T>G (p.Tyr291Asp)
c.163T>G (p.Tyr55Asp)
n.287+10173A>C
2g.222232143A>GCA351112365PAX3c.727T>C (p.Tyr243His)
n.541T>C
c.724T>C (p.Tyr242His)
c.871T>C (p.Tyr291His)
c.163T>C (p.Tyr55His)
n.287+10173A>G
2g.222232143A>TCA351112367PAX3c.727T>A (p.Tyr243Asn)
n.541T>A
c.724T>A (p.Tyr242Asn)
c.871T>A (p.Tyr291Asn)
c.163T>A (p.Tyr55Asn)
n.287+10173A>T
2g.222232144A>CCA351112369PAX3c.726T>G (p.His242Gln)
n.540T>G
c.723T>G (p.His241Gln)
c.870T>G (p.His290Gln)
c.162T>G (p.His54Gln)
n.287+10174A>C
2g.222232144A>GCA431575618PAX3c.726T>C (p.His242=)
n.540T>C
c.723T>C (p.His241=)
c.870T>C (p.His290=)
c.162T>C (p.His54=)
n.287+10174A>G
2g.222232144A>TCA351112371PAX3c.726T>A (p.His242Gln)
n.540T>A
c.723T>A (p.His241Gln)
c.870T>A (p.His290Gln)
c.162T>A (p.His54Gln)
n.287+10174A>T
2g.222232145T>ACA351112374PAX3c.725A>T (p.His242Leu)
n.539A>T
c.722A>T (p.His241Leu)
c.869A>T (p.His290Leu)
c.161A>T (p.His54Leu)
n.287+10175T>A
2g.222232145T>CCA351112377PAX3c.725A>G (p.His242Arg)
n.539A>G
c.722A>G (p.His241Arg)
c.869A>G (p.His290Arg)
c.161A>G (p.His54Arg)
n.287+10175T>C
2g.222232145T>GCA351112375PAX3c.725A>C (p.His242Pro)
n.539A>C
c.722A>C (p.His241Pro)
c.869A>C (p.His290Pro)
c.161A>C (p.His54Pro)
n.287+10175T>G
2g.222232146G>ACA351112378PAX3c.724C>T (p.His242Tyr)
n.538C>T
c.721C>T (p.His241Tyr)
c.868C>T (p.His290Tyr)
c.160C>T (p.His54Tyr)
n.287+10176G>A
2g.222232146G>CCA351112382PAX3c.724C>G (p.His242Asp)
n.538C>G
c.721C>G (p.His241Asp)
c.868C>G (p.His290Asp)
c.160C>G (p.His54Asp)
n.287+10176G>C
2g.222232146G>TCA351112380PAX3c.724C>A (p.His242Asn)
n.538C>A
c.721C>A (p.His241Asn)
c.868C>A (p.His290Asn)
c.160C>A (p.His54Asn)
n.287+10176G>T
2g.222232147A=CA1330516229PAX3c.723T= (p.Thr241=)
n.537T=
c.720T= (p.Thr240=)
c.867T= (p.Thr289=)
c.159T= (p.Thr53=)
n.287+10177A=
2g.222232147A>CCA431575619PAX3c.723T>G (p.Thr241=)
n.537T>G
c.720T>G (p.Thr240=)
c.867T>G (p.Thr289=)
c.159T>G (p.Thr53=)
n.287+10177A>C
 ClinVar gnomAD v4
2g.222232147A>GCA2135595PAX3c.723T>C (p.Thr241=)
n.537T>C
c.720T>C (p.Thr240=)
c.867T>C (p.Thr289=)
c.159T>C (p.Thr53=)
n.287+10177A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222232147A>TCA431575620PAX3c.723T>A (p.Thr241=)
n.537T>A
c.720T>A (p.Thr240=)
c.867T>A (p.Thr289=)
c.159T>A (p.Thr53=)
n.287+10177A>T
2g.222232148G>ACA351112385PAX3c.722C>T (p.Thr241Ile)
n.536C>T
c.719C>T (p.Thr240Ile)
c.866C>T (p.Thr289Ile)
c.158C>T (p.Thr53Ile)
n.287+10178G>A
2g.222232148G>CCA351112387PAX3c.722C>G (p.Thr241Ser)
n.536C>G
c.719C>G (p.Thr240Ser)
c.866C>G (p.Thr289Ser)
c.158C>G (p.Thr53Ser)
n.287+10178G>C
 gnomAD v4
2g.222232148G>TCA351112388PAX3c.722C>A (p.Thr241Asn)
n.536C>A
c.719C>A (p.Thr240Asn)
c.866C>A (p.Thr289Asn)
c.158C>A (p.Thr53Asn)
n.287+10178G>T
2g.222232149T>ACA2135596PAX3c.721A>T (p.Thr241Ser)
n.535A>T
c.718A>T (p.Thr240Ser)
c.865A>T (p.Thr289Ser)
c.157A>T (p.Thr53Ser)
n.287+10179T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222232149T>CCA351112391PAX3c.721A>G (p.Thr241Ala)
n.535A>G
c.718A>G (p.Thr240Ala)
c.865A>G (p.Thr289Ala)
c.157A>G (p.Thr53Ala)
n.287+10179T>C
2g.222232149T>GCA351112393PAX3c.721A>C (p.Thr241Pro)
n.535A>C
c.718A>C (p.Thr240Pro)
c.865A>C (p.Thr289Pro)
c.157A>C (p.Thr53Pro)
n.287+10179T>G
2g.222232149T=CA1330516230PAX3c.721A= (p.Thr241=)
n.535A=
c.718A= (p.Thr240=)
c.865A= (p.Thr289=)
c.157A= (p.Thr53=)
n.287+10179T=
2g.222232150T>ACA351112395PAX3c.720A>T (p.Arg240Ser)
n.534A>T
c.717A>T (p.Arg239Ser)
c.864A>T (p.Arg288Ser)
c.156A>T (p.Arg52Ser)
n.287+10180T>A
2g.222232150T>CCA431575621PAX3c.720A>G (p.Arg240=)
n.534A>G
c.717A>G (p.Arg239=)
c.864A>G (p.Arg288=)
c.156A>G (p.Arg52=)
n.287+10180T>C
 COSMIC COSMIC
2g.222232150T>GCA351112397PAX3c.720A>C (p.Arg240Ser)
n.534A>C
c.717A>C (p.Arg239Ser)
c.864A>C (p.Arg288Ser)
c.156A>C (p.Arg52Ser)
n.287+10180T>G
2g.222232151C>ACA351112399PAX3c.719G>T (p.Arg240Ile)
n.533G>T
c.716G>T (p.Arg239Ile)
c.863G>T (p.Arg288Ile)
c.155G>T (p.Arg52Ile)
n.287+10181C>A
 dbSNP gnomAD v4 COSMIC COSMIC
2g.222232151C=CA1330516231PAX3c.719G= (p.Arg240=)
n.533G=
c.716G= (p.Arg239=)
c.863G= (p.Arg288=)
c.155G= (p.Arg52=)
n.287+10181C=
2g.222232151C>GCA351112400PAX3c.719G>C (p.Arg240Thr)
n.533G>C
c.716G>C (p.Arg239Thr)
c.863G>C (p.Arg288Thr)
c.155G>C (p.Arg52Thr)
n.287+10181C>G
2g.222232151C>TCA351112402PAX3c.719G>A (p.Arg240Lys)
n.533G>A
c.716G>A (p.Arg239Lys)
c.863G>A (p.Arg288Lys)
c.155G>A (p.Arg52Lys)
n.287+10181C>T
 gnomAD v4
2g.222232152T>ACA351112404PAX3c.718A>T (p.Arg240Ter)
n.532A>T
c.715A>T (p.Arg239Ter)
c.862A>T (p.Arg288Ter)
c.154A>T (p.Arg52Ter)
n.287+10182T>A
2g.222232152T>CCA351112406PAX3c.718A>G (p.Arg240Gly)
n.532A>G
c.715A>G (p.Arg239Gly)
c.862A>G (p.Arg288Gly)
c.154A>G (p.Arg52Gly)
n.287+10182T>C
2g.222232152T>GCA431575622PAX3c.718A>C (p.Arg240=)
n.532A>C
c.715A>C (p.Arg239=)
c.862A>C (p.Arg288=)
c.154A>C (p.Arg52=)
n.287+10182T>G
2g.222232153C>ACA351112408PAX3c.717G>T (p.Glu239Asp)
n.531G>T
c.714G>T (p.Glu238Asp)
c.861G>T (p.Glu287Asp)
c.153G>T (p.Glu51Asp)
n.287+10183C>A
2g.222232153C=CA1330516232PAX3c.717G= (p.Glu239=)
n.531G=
c.714G= (p.Glu238=)
c.861G= (p.Glu287=)
c.153G= (p.Glu51=)
n.287+10183C=
2g.222232153C>GCA351112409PAX3c.717G>C (p.Glu239Asp)
n.531G>C
c.714G>C (p.Glu238Asp)
c.861G>C (p.Glu287Asp)
c.153G>C (p.Glu51Asp)
n.287+10183C>G
 dbSNP gnomAD v4
2g.222232153C>TCA431575623PAX3c.717G>A (p.Glu239=)
n.531G>A
c.714G>A (p.Glu238=)
c.861G>A (p.Glu287=)
c.153G>A (p.Glu51=)
n.287+10183C>T
 gnomAD v4
2g.222232154T>ACA351112411PAX3c.716A>T (p.Glu239Val)
n.530A>T
c.713A>T (p.Glu238Val)
c.860A>T (p.Glu287Val)
c.152A>T (p.Glu51Val)
n.287+10184T>A
2g.222232154T>CCA351112414PAX3c.716A>G (p.Glu239Gly)
n.530A>G
c.713A>G (p.Glu238Gly)
c.860A>G (p.Glu287Gly)
c.152A>G (p.Glu51Gly)
n.287+10184T>C
 gnomAD v4
2g.222232154T>GCA351112415PAX3c.716A>C (p.Glu239Ala)
n.530A>C
c.713A>C (p.Glu238Ala)
c.860A>C (p.Glu287Ala)
c.152A>C (p.Glu51Ala)
n.287+10184T>G
2g.222232155C>ACA351112418PAX3c.715G>T (p.Glu239Ter)
n.529G>T
c.712G>T (p.Glu238Ter)
c.859G>T (p.Glu287Ter)
c.151G>T (p.Glu51Ter)
n.287+10185C>A
 ClinVar dbSNP
2g.222232155C=CA1330516233PAX3c.715G= (p.Glu239=)
n.529G=
c.712G= (p.Glu238=)
c.859G= (p.Glu287=)
c.151G= (p.Glu51=)
n.287+10185C=
2g.222232155C>GCA351112420PAX3c.715G>C (p.Glu239Gln)
n.529G>C
c.712G>C (p.Glu238Gln)
c.859G>C (p.Glu287Gln)
c.151G>C (p.Glu51Gln)
n.287+10185C>G
 gnomAD v4
2g.222232155C>TCA351112422PAX3c.715G>A (p.Glu239Lys)
n.529G>A
c.712G>A (p.Glu238Lys)
c.859G>A (p.Glu287Lys)
c.151G>A (p.Glu51Lys)
n.287+10185C>T
2g.222232156A>CCA351112424PAX3c.714T>G (p.Phe238Leu)
n.528T>G
c.711T>G (p.Phe237Leu)
c.858T>G (p.Phe286Leu)
c.150T>G (p.Phe50Leu)
n.287+10186A>C
2g.222232156A>GCA431575624PAX3c.714T>C (p.Phe238=)
n.528T>C
c.711T>C (p.Phe237=)
c.858T>C (p.Phe286=)
c.150T>C (p.Phe50=)
n.287+10186A>G
2g.222232156A>TCA351112426PAX3c.714T>A (p.Phe238Leu)
n.528T>A
c.711T>A (p.Phe237Leu)
c.858T>A (p.Phe286Leu)
c.150T>A (p.Phe50Leu)
n.287+10186A>T
2g.222232156_222232158delinsCAGGGTAATGCA2586971445PAX3c.712_714delinsCATTACCCTG (p.Phe238HisfsTer10)
n.526_528delinsCATTACCCTG
c.709_711delinsCATTACCCTG (p.Phe237HisfsTer10)
c.856_858delinsCATTACCCTG (p.Phe286HisfsTer10)
c.148_150delinsCATTACCCTG (p.Phe50HisfsTer10)
n.287+10186_287+10188delinsCAGGGTAATG
2g.222232159delCA645523628PAX3c.714del (p.Phe238LeufsTer?)
n.528del
c.711del (p.Phe237LeufsTer?)
c.858del (p.Phe286LeufsTer?)
c.150del (p.Phe50LeufsTer?)
n.287+10189del
 COSMIC COSMIC
2g.222232157A>CCA351112431PAX3c.713T>G (p.Phe238Cys)
n.527T>G
c.710T>G (p.Phe237Cys)
c.857T>G (p.Phe286Cys)
c.149T>G (p.Phe50Cys)
n.287+10187A>C
2g.222232157A>GCA351112430PAX3c.713T>C (p.Phe238Ser)
n.527T>C
c.710T>C (p.Phe237Ser)
c.857T>C (p.Phe286Ser)
c.149T>C (p.Phe50Ser)
n.287+10187A>G
 ClinVar dbSNP
2g.222232157A>TCA351112428PAX3c.713T>A (p.Phe238Tyr)
n.527T>A
c.710T>A (p.Phe237Tyr)
c.857T>A (p.Phe286Tyr)
c.149T>A (p.Phe50Tyr)
n.287+10187A>T
2g.222232158A>CCA351112434PAX3c.712T>G (p.Phe238Val)
n.526T>G
c.709T>G (p.Phe237Val)
c.856T>G (p.Phe286Val)
c.148T>G (p.Phe50Val)
n.287+10188A>C
2g.222232158A>GCA351112435PAX3c.712T>C (p.Phe238Leu)
n.526T>C
c.709T>C (p.Phe237Leu)
c.856T>C (p.Phe286Leu)
c.148T>C (p.Phe50Leu)
n.287+10188A>G
2g.222232158A>TCA351112437PAX3c.712T>A (p.Phe238Ile)
n.526T>A
c.709T>A (p.Phe237Ile)
c.856T>A (p.Phe286Ile)
c.148T>A (p.Phe50Ile)
n.287+10188A>T
2g.222232159A>CCA431575625PAX3c.711T>G (p.Ala237=)
n.525T>G
c.708T>G (p.Ala236=)
c.855T>G (p.Ala285=)
c.147T>G (p.Ala49=)
n.287+10189A>C
2g.222232159A>GCA431575626PAX3c.711T>C (p.Ala237=)
n.525T>C
c.708T>C (p.Ala236=)
c.855T>C (p.Ala285=)
c.147T>C (p.Ala49=)
n.287+10189A>G
2g.222232159A>TCA431575627PAX3c.711T>A (p.Ala237=)
n.525T>A
c.708T>A (p.Ala236=)
c.855T>A (p.Ala285=)
c.147T>A (p.Ala49=)
n.287+10189A>T
2g.222232160G>ACA351112439PAX3c.710C>T (p.Ala237Val)
n.524C>T
c.707C>T (p.Ala236Val)
c.854C>T (p.Ala285Val)
c.146C>T (p.Ala49Val)
n.287+10190G>A
2g.222232160G>CCA351112440PAX3c.710C>G (p.Ala237Gly)
n.524C>G
c.707C>G (p.Ala236Gly)
c.854C>G (p.Ala285Gly)
c.146C>G (p.Ala49Gly)
n.287+10190G>C
2g.222232160G>TCA351112442PAX3c.710C>A (p.Ala237Asp)
n.524C>A
c.707C>A (p.Ala236Asp)
c.854C>A (p.Ala285Asp)
c.146C>A (p.Ala49Asp)
n.287+10190G>T
 gnomAD v4
2g.222232161C>ACA351112445PAX3c.709G>T (p.Ala237Ser)
n.523G>T
c.706G>T (p.Ala236Ser)
c.853G>T (p.Ala285Ser)
c.145G>T (p.Ala49Ser)
n.287+10191C>A
2g.222232161C>GCA351112446PAX3c.709G>C (p.Ala237Pro)
n.523G>C
c.706G>C (p.Ala236Pro)
c.853G>C (p.Ala285Pro)
c.145G>C (p.Ala49Pro)
n.287+10191C>G
2g.222232161C>TCA351112448PAX3c.709G>A (p.Ala237Thr)
n.523G>A
c.706G>A (p.Ala236Thr)
c.853G>A (p.Ala285Thr)
c.145G>A (p.Ala49Thr)
n.287+10191C>T
2g.222232162A=CA1330516234PAX3c.708T= (p.Arg236=)
n.522T=
c.705T= (p.Arg235=)
c.852T= (p.Arg284=)
c.144T= (p.Arg48=)
n.287+10192A=
2g.222232162A>CCA431575629PAX3c.708T>G (p.Arg236=)
n.522T>G
c.705T>G (p.Arg235=)
c.852T>G (p.Arg284=)
c.144T>G (p.Arg48=)
n.287+10192A>C
2g.222232162A>GCA431575628PAX3c.708T>C (p.Arg236=)
n.522T>C
c.705T>C (p.Arg235=)
c.852T>C (p.Arg284=)
c.144T>C (p.Arg48=)
n.287+10192A>G
 dbSNP gnomAD v2 gnomAD v4
2g.222232162A>TCA2135597PAX3c.708T>A (p.Arg236=)
n.522T>A
c.705T>A (p.Arg235=)
c.852T>A (p.Arg284=)
c.144T>A (p.Arg48=)
n.287+10192A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222232163C>ACA351112452PAX3c.707G>T (p.Arg236Leu)
n.521G>T
c.704G>T (p.Arg235Leu)
c.851G>T (p.Arg284Leu)
c.143G>T (p.Arg48Leu)
n.287+10193C>A
 gnomAD v4
2g.222232163C=CA1330516235PAX3c.707G= (p.Arg236=)
n.521G=
c.704G= (p.Arg235=)
c.851G= (p.Arg284=)
c.143G= (p.Arg48=)
n.287+10193C=
2g.222232163C>GCA351112454PAX3c.707G>C (p.Arg236Pro)
n.521G>C
c.704G>C (p.Arg235Pro)
c.851G>C (p.Arg284Pro)
c.143G>C (p.Arg48Pro)
n.287+10193C>G
2g.222232163C>TCA2135598PAX3c.707G>A (p.Arg236His)
n.521G>A
c.704G>A (p.Arg235His)
c.851G>A (p.Arg284His)
c.143G>A (p.Arg48His)
n.287+10193C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.222232164G>ACA351112458PAX3c.706C>T (p.Arg236Cys)
n.520C>T
c.703C>T (p.Arg235Cys)
c.850C>T (p.Arg284Cys)
c.142C>T (p.Arg48Cys)
n.287+10194G>A
 dbSNP gnomAD v3 gnomAD v4
2g.222232164G>CCA351112461PAX3c.706C>G (p.Arg236Gly)
n.520C>G
c.703C>G (p.Arg235Gly)
c.850C>G (p.Arg284Gly)
c.142C>G (p.Arg48Gly)
n.287+10194G>C
 gnomAD v4
2g.222232164G=CA1330516236PAX3c.706C= (p.Arg236=)
n.520C=
c.703C= (p.Arg235=)
c.850C= (p.Arg284=)
c.142C= (p.Arg48=)
n.287+10194G=
2g.222232164G>TCA2135599PAX3c.706C>A (p.Arg236Ser)
n.520C>A
c.703C>A (p.Arg235Ser)
c.850C>A (p.Arg284Ser)
c.142C>A (p.Arg48Ser)
n.287+10194G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.222232165C>ACA351112464PAX3c.705G>T (p.Glu235Asp)
n.519G>T
c.702G>T (p.Glu234Asp)
c.849G>T (p.Glu283Asp)
c.141G>T (p.Glu47Asp)
n.287+10195C>A
2g.222232165C>GCA351112465PAX3c.705G>C (p.Glu235Asp)
n.519G>C
c.702G>C (p.Glu234Asp)
c.849G>C (p.Glu283Asp)
c.141G>C (p.Glu47Asp)
n.287+10195C>G
2g.222232165C>TCA431575630PAX3c.705G>A (p.Glu235=)
n.519G>A
c.702G>A (p.Glu234=)
c.849G>A (p.Glu283=)
c.141G>A (p.Glu47=)
n.287+10195C>T
2g.222232166T>ACA351112467PAX3c.704A>T (p.Glu235Val)
n.518A>T
c.701A>T (p.Glu234Val)
c.848A>T (p.Glu283Val)
c.140A>T (p.Glu47Val)
n.287+10196T>A
2g.222232166T>CCA351112469PAX3c.704A>G (p.Glu235Gly)
n.518A>G
c.701A>G (p.Glu234Gly)
c.848A>G (p.Glu283Gly)
c.140A>G (p.Glu47Gly)
n.287+10196T>C
 dbSNP gnomAD v2 gnomAD v4
2g.222232166T>GCA351112471PAX3c.704A>C (p.Glu235Ala)
n.518A>C
c.701A>C (p.Glu234Ala)
c.848A>C (p.Glu283Ala)
c.140A>C (p.Glu47Ala)
n.287+10196T>G
2g.222232166T=CA1330516237PAX3c.704A= (p.Glu235=)
n.518A=
c.701A= (p.Glu234=)
c.848A= (p.Glu283=)
c.140A= (p.Glu47=)
n.287+10196T=
2g.222232167C>ACA351112473PAX3c.703G>T (p.Glu235Ter)
n.517G>T
c.700G>T (p.Glu234Ter)
c.847G>T (p.Glu283Ter)
c.139G>T (p.Glu47Ter)
n.287+10197C>A
2g.222232167C=CA1330516238PAX3c.703G= (p.Glu235=)
n.517G=
c.700G= (p.Glu234=)
c.847G= (p.Glu283=)
c.139G= (p.Glu47=)
n.287+10197C=
2g.222232167C>GCA351112475PAX3c.703G>C (p.Glu235Gln)
n.517G>C
c.700G>C (p.Glu234Gln)
c.847G>C (p.Glu283Gln)
c.139G>C (p.Glu47Gln)
n.287+10197C>G
2g.222232167C>TCA351112477PAX3c.703G>A (p.Glu235Lys)
n.517G>A
c.700G>A (p.Glu234Lys)
c.847G>A (p.Glu283Lys)
c.139G>A (p.Glu47Lys)
n.287+10197C>T
 dbSNP gnomAD v3 gnomAD v4
2g.222232168C>ACA431575631PAX3c.702G>T (p.Leu234=)
n.516G>T
c.699G>T (p.Leu233=)
c.846G>T (p.Leu282=)
c.138G>T (p.Leu46=)
n.287+10198C>A
2g.222232168C>GCA431575633PAX3c.702G>C (p.Leu234=)
n.516G>C
c.699G>C (p.Leu233=)
c.846G>C (p.Leu282=)
c.138G>C (p.Leu46=)
n.287+10198C>G
2g.222232168C>TCA431575632PAX3c.702G>A (p.Leu234=)
n.516G>A
c.699G>A (p.Leu233=)
c.846G>A (p.Leu282=)
c.138G>A (p.Leu46=)
n.287+10198C>T
2g.222232169A>CCA351112480PAX3c.701T>G (p.Leu234Arg)
n.515T>G
c.698T>G (p.Leu233Arg)
c.845T>G (p.Leu282Arg)
c.137T>G (p.Leu46Arg)
n.287+10199A>C
2g.222232169A>GCA351112481PAX3c.701T>C (p.Leu234Pro)
n.515T>C
c.698T>C (p.Leu233Pro)
c.845T>C (p.Leu282Pro)
c.137T>C (p.Leu46Pro)
n.287+10199A>G
2g.222232169A>TCA351112483PAX3c.701T>A (p.Leu234Gln)
n.515T>A
c.698T>A (p.Leu233Gln)
c.845T>A (p.Leu282Gln)
c.137T>A (p.Leu46Gln)
n.287+10199A>T
2g.222232170G>ACA431575634PAX3c.700C>T (p.Leu234=)
n.514C>T
c.697C>T (p.Leu233=)
c.844C>T (p.Leu282=)
c.136C>T (p.Leu46=)
n.287+10200G>A
 gnomAD v4 COSMIC COSMIC
2g.222232170G>CCA351112487PAX3c.700C>G (p.Leu234Val)
n.514C>G
c.697C>G (p.Leu233Val)
c.844C>G (p.Leu282Val)
c.136C>G (p.Leu46Val)
n.287+10200G>C
2g.222232170G>TCA351112485PAX3c.700C>A (p.Leu234Met)
n.514C>A
c.697C>A (p.Leu233Met)
c.844C>A (p.Leu282Met)
c.136C>A (p.Leu46Met)
n.287+10200G>T
 gnomAD v4
2g.222232171T>ACA351112488PAX3c.699A>T (p.Glu233Asp)
n.513A>T
c.696A>T (p.Glu232Asp)
c.843A>T (p.Glu281Asp)
c.135A>T (p.Glu45Asp)
n.287+10201T>A
2g.222232171T>CCA431575635PAX3c.699A>G (p.Glu233=)
n.513A>G
c.696A>G (p.Glu232=)
c.843A>G (p.Glu281=)
c.135A>G (p.Glu45=)
n.287+10201T>C
2g.222232171T>GCA351112489PAX3c.699A>C (p.Glu233Asp)
n.513A>C
c.696A>C (p.Glu232Asp)
c.843A>C (p.Glu281Asp)
c.135A>C (p.Glu45Asp)
n.287+10201T>G
2g.222232172T>ACA351112490PAX3c.698A>T (p.Glu233Val)
n.512A>T
c.695A>T (p.Glu232Val)
c.842A>T (p.Glu281Val)
c.134A>T (p.Glu45Val)
n.287+10202T>A
2g.222232172T>CCA351112492PAX3c.698A>G (p.Glu233Gly)
n.512A>G
c.695A>G (p.Glu232Gly)
c.842A>G (p.Glu281Gly)
c.134A>G (p.Glu45Gly)
n.287+10202T>C
2g.222232172T>GCA351112494PAX3c.698A>C (p.Glu233Ala)
n.512A>C
c.695A>C (p.Glu232Ala)
c.842A>C (p.Glu281Ala)
c.134A>C (p.Glu45Ala)
n.287+10202T>G
2g.222232173C>ACA351112496PAX3c.697G>T (p.Glu233Ter)
n.511G>T
c.694G>T (p.Glu232Ter)
c.841G>T (p.Glu281Ter)
c.133G>T (p.Glu45Ter)
n.287+10203C>A
2g.222232173C>GCA351112499PAX3c.697G>C (p.Glu233Gln)
n.511G>C
c.694G>C (p.Glu232Gln)
c.841G>C (p.Glu281Gln)
c.133G>C (p.Glu45Gln)
n.287+10203C>G
2g.222232173C>TCA351112501PAX3c.697G>A (p.Glu233Lys)
n.511G>A
c.694G>A (p.Glu232Lys)
c.841G>A (p.Glu281Lys)
c.133G>A (p.Glu45Lys)
n.287+10203C>T
 COSMIC COSMIC
2g.222232174C>ACA351112503PAX3c.696G>T (p.Glu232Asp)
n.510G>T
c.693G>T (p.Glu231Asp)
c.840G>T (p.Glu280Asp)
c.132G>T (p.Glu44Asp)
n.287+10204C>A
2g.222232174C>GCA351112505PAX3c.696G>C (p.Glu232Asp)
n.510G>C
c.693G>C (p.Glu231Asp)
c.840G>C (p.Glu280Asp)
c.132G>C (p.Glu44Asp)
n.287+10204C>G
2g.222232174C>TCA431575636PAX3c.696G>A (p.Glu232=)
n.510G>A
c.693G>A (p.Glu231=)
c.840G>A (p.Glu280=)
c.132G>A (p.Glu44=)
n.287+10204C>T
2g.222232175T>ACA351112507PAX3c.695A>T (p.Glu232Val)
n.509A>T
c.692A>T (p.Glu231Val)
c.839A>T (p.Glu280Val)
c.131A>T (p.Glu44Val)
n.287+10205T>A
2g.222232175T>CCA351112508PAX3c.695A>G (p.Glu232Gly)
n.509A>G
c.692A>G (p.Glu231Gly)
c.839A>G (p.Glu280Gly)
c.131A>G (p.Glu44Gly)
n.287+10205T>C
2g.222232175T>GCA351112510PAX3c.695A>C (p.Glu232Ala)
n.509A>C
c.692A>C (p.Glu231Ala)
c.839A>C (p.Glu280Ala)
c.131A>C (p.Glu44Ala)
n.287+10205T>G
2g.222232176C>ACA351112516PAX3c.694G>T (p.Glu232Ter)
n.508G>T
c.691G>T (p.Glu231Ter)
c.838G>T (p.Glu280Ter)
c.130G>T (p.Glu44Ter)
n.287+10206C>A
2g.222232176C=CA1330516239PAX3c.694G= (p.Glu232=)
n.508G=
c.691G= (p.Glu231=)
c.838G= (p.Glu280=)
c.130G= (p.Glu44=)
n.287+10206C=
2g.222232176C>GCA351112514PAX3c.694G>C (p.Glu232Gln)
n.508G>C
c.691G>C (p.Glu231Gln)
c.838G>C (p.Glu280Gln)
c.130G>C (p.Glu44Gln)
n.287+10206C>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.222232176C>TCA351112512PAX3c.694G>A (p.Glu232Lys)
n.508G>A
c.691G>A (p.Glu231Lys)
c.838G>A (p.Glu280Lys)
c.130G>A (p.Glu44Lys)
n.287+10206C>T
2g.222232177C>ACA431575637PAX3c.693G>T (p.Leu231=)
n.507G>T
c.690G>T (p.Leu230=)
c.837G>T (p.Leu279=)
c.129G>T (p.Leu43=)
n.287+10207C>A
2g.222232177C>GCA431575638PAX3c.693G>C (p.Leu231=)
n.507G>C
c.690G>C (p.Leu230=)
c.837G>C (p.Leu279=)
c.129G>C (p.Leu43=)
n.287+10207C>G
2g.222232177C>TCA431575639PAX3c.693G>A (p.Leu231=)
n.507G>A
c.690G>A (p.Leu230=)
c.837G>A (p.Leu279=)
c.129G>A (p.Leu43=)
n.287+10207C>T
 gnomAD v4
2g.222232178A=CA1330516240PAX3c.692T= (p.Leu231=)
n.506T=
c.689T= (p.Leu230=)
c.836T= (p.Leu279=)
c.128T= (p.Leu43=)
n.287+10208A=
2g.222232178A>CCA351112517PAX3c.692T>G (p.Leu231Arg)
n.506T>G
c.689T>G (p.Leu230Arg)
c.836T>G (p.Leu279Arg)
c.128T>G (p.Leu43Arg)
n.287+10208A>C
2g.222232178A>GCA351112519PAX3c.692T>C (p.Leu231Pro)
n.506T>C
c.689T>C (p.Leu230Pro)
c.836T>C (p.Leu279Pro)
c.128T>C (p.Leu43Pro)
n.287+10208A>G
 ClinVar dbSNP
2g.222232178A>TCA351112521PAX3c.692T>A (p.Leu231Gln)
n.506T>A
c.689T>A (p.Leu230Gln)
c.836T>A (p.Leu279Gln)
c.128T>A (p.Leu43Gln)
n.287+10208A>T
2g.222232179G>ACA431575640PAX3c.691C>T (p.Leu231=)
n.505C>T
c.688C>T (p.Leu230=)
c.835C>T (p.Leu279=)
c.127C>T (p.Leu43=)
n.287+10209G>A
 gnomAD v4
2g.222232179G>CCA351112523PAX3c.691C>G (p.Leu231Val)
n.505C>G
c.688C>G (p.Leu230Val)
c.835C>G (p.Leu279Val)
c.127C>G (p.Leu43Val)
n.287+10209G>C
 gnomAD v4
2g.222232179G>TCA351112524PAX3c.691C>A (p.Leu231Met)
n.505C>A
c.688C>A (p.Leu230Met)
c.835C>A (p.Leu279Met)
c.127C>A (p.Leu43Met)
n.287+10209G>T
2g.222232180C>ACA351112525PAX3c.690G>T (p.Gln230His)
n.504G>T
c.687G>T (p.Gln229His)
c.834G>T (p.Gln278His)
c.126G>T (p.Gln42His)
n.287+10210C>A
2g.222232180C>GCA351112527PAX3c.690G>C (p.Gln230His)
n.504G>C
c.687G>C (p.Gln229His)
c.834G>C (p.Gln278His)
c.126G>C (p.Gln42His)
n.287+10210C>G
2g.222232180C>TCA431575641PAX3c.690G>A (p.Gln230=)
n.504G>A
c.687G>A (p.Gln229=)
c.834G>A (p.Gln278=)
c.126G>A (p.Gln42=)
n.287+10210C>T
2g.222232181T>ACA351112529PAX3c.689A>T (p.Gln230Leu)
n.503A>T
c.686A>T (p.Gln229Leu)
c.833A>T (p.Gln278Leu)
c.125A>T (p.Gln42Leu)
n.287+10211T>A
2g.222232181T>CCA351112532PAX3c.689A>G (p.Gln230Arg)
n.503A>G
c.686A>G (p.Gln229Arg)
c.833A>G (p.Gln278Arg)
c.125A>G (p.Gln42Arg)
n.287+10211T>C
2g.222232181T>GCA351112534PAX3c.689A>C (p.Gln230Pro)
n.503A>C
c.686A>C (p.Gln229Pro)
c.833A>C (p.Gln278Pro)
c.125A>C (p.Gln42Pro)
n.287+10211T>G
2g.222232182G>ACA351112536PAX3c.688C>T (p.Gln230Ter)
n.502C>T
c.685C>T (p.Gln229Ter)
c.832C>T (p.Gln278Ter)
c.124C>T (p.Gln42Ter)
n.287+10212G>A
2g.222232182G>CCA351112537PAX3c.688C>G (p.Gln230Glu)
n.502C>G
c.685C>G (p.Gln229Glu)
c.832C>G (p.Gln278Glu)
c.124C>G (p.Gln42Glu)
n.287+10212G>C
2g.222232182G>TCA351112539PAX3c.688C>A (p.Gln230Lys)
n.502C>A
c.685C>A (p.Gln229Lys)
c.832C>A (p.Gln278Lys)
c.124C>A (p.Gln42Lys)
n.287+10212G>T
 ClinVar COSMIC

Number of alleles fetched