Chr Mutation (hg38) CAid Gene Transcript Linkouts
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

Number of alleles fetched