Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.222232071A= | CA1330516193 | PAX3 | c.792+7T= (n.792+7T=) n.606+7T= c.789+7T= (n.789+7T=) c.936+7T= (n.936+7T=) c.228+7T= (n.228+7T=) n.287+10101A= n.347A= | |
2 | g.222232071A>G | CA66333340 | PAX3 | c.792+7T>C (n.792+7T>C) n.606+7T>C c.789+7T>C (n.789+7T>C) c.936+7T>C (n.936+7T>C) c.228+7T>C (n.228+7T>C) n.287+10101A>G n.347A>G | dbSNP gnomAD v2 |
2 | g.222232072C= | CA1330516194 | PAX3 | c.792+6G= (n.792+6G=) n.606+6G= c.789+6G= (n.789+6G=) c.936+6G= (n.936+6G=) c.228+6G= (n.228+6G=) n.287+10102C= n.348C= | |
2 | g.222232072C>T | CA539836834 | PAX3 | c.792+6G>A (n.792+6G>A) n.606+6G>A c.789+6G>A (n.789+6G>A) c.936+6G>A (n.936+6G>A) c.228+6G>A (n.228+6G>A) n.287+10102C>T n.348C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222232073A= | CA1330516195 | PAX3 | c.792+5T= (n.792+5T=) n.606+5T= c.789+5T= (n.789+5T=) c.936+5T= (n.936+5T=) c.228+5T= (n.228+5T=) n.287+10103A= n.349A= | |
2 | g.222232073A>G | CA765211340 | PAX3 | c.792+5T>C (n.792+5T>C) n.606+5T>C c.789+5T>C (n.789+5T>C) c.936+5T>C (n.936+5T>C) c.228+5T>C (n.228+5T>C) n.287+10103A>G n.349A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222232074G>A | CA2135583 | PAX3 | c.792+4C>T (n.792+4C>T) n.606+4C>T c.789+4C>T (n.789+4C>T) c.936+4C>T (n.936+4C>T) c.228+4C>T (n.228+4C>T) n.287+10104G>A n.350G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222232074G= | CA1330516196 | PAX3 | c.792+4C= (n.792+4C=) n.606+4C= c.789+4C= (n.789+4C=) c.936+4C= (n.936+4C=) c.228+4C= (n.228+4C=) n.287+10104G= n.350G= | |
2 | g.222232075T>A | CA2663322964 | PAX3 | c.792+3A>T (n.792+3A>T) n.606+3A>T c.789+3A>T (n.789+3A>T) c.936+3A>T (n.936+3A>T) c.228+3A>T (n.228+3A>T) n.287+10105T>A n.351T>A | gnomAD v4 |
2 | g.222232075T>C | CA2663322965 | PAX3 | c.792+3A>G (n.792+3A>G) n.606+3A>G c.789+3A>G (n.789+3A>G) c.936+3A>G (n.936+3A>G) c.228+3A>G (n.228+3A>G) n.287+10105T>C n.351T>C | gnomAD v4 |
2 | g.222232076A>C | CA351112099 | PAX3 | c.792+2T>G (n.792+2T>G) n.606+2T>G c.789+2T>G (n.789+2T>G) c.936+2T>G (n.936+2T>G) c.228+2T>G (n.228+2T>G) n.287+10106A>C n.352A>C | |
2 | g.222232076A>G | CA351112100 | PAX3 | c.792+2T>C (n.792+2T>C) n.606+2T>C c.789+2T>C (n.789+2T>C) c.936+2T>C (n.936+2T>C) c.228+2T>C (n.228+2T>C) n.287+10106A>G n.352A>G | ClinVar dbSNP |
2 | g.222232076A>T | CA351112101 | PAX3 | c.792+2T>A (n.792+2T>A) n.606+2T>A c.789+2T>A (n.789+2T>A) c.936+2T>A (n.936+2T>A) c.228+2T>A (n.228+2T>A) n.287+10106A>T n.352A>T | |
2 | g.222232077C>A | CA351112104 | PAX3 | c.792+1G>T (n.792+1G>T) n.606+1G>T c.789+1G>T (n.789+1G>T) c.936+1G>T (n.936+1G>T) c.228+1G>T (n.228+1G>T) n.287+10107C>A n.353C>A | |
2 | g.222232077C>G | CA351112105 | PAX3 | c.792+1G>C (n.792+1G>C) n.606+1G>C c.789+1G>C (n.789+1G>C) c.936+1G>C (n.936+1G>C) c.228+1G>C (n.228+1G>C) n.287+10107C>G n.353C>G | |
2 | g.222232077C>T | CA351112103 | PAX3 | c.792+1G>A (n.792+1G>A) n.606+1G>A c.789+1G>A (n.789+1G>A) c.936+1G>A (n.936+1G>A) c.228+1G>A (n.228+1G>A) n.287+10107C>T n.353C>T | |
2 | g.222232078C>A | CA351112108 | PAX3 | c.792G>T (p.Gln264His) n.606G>T c.789G>T (p.Gln263His) c.936G>T (p.Gln312His) c.228G>T (p.Gln76His) n.287+10108C>A n.354C>A | |
2 | g.222232078C= | CA1330516197 | PAX3 | c.792G= (p.Gln264=) n.606G= c.789G= (p.Gln263=) c.936G= (p.Gln312=) c.228G= (p.Gln76=) n.287+10108C= n.354C= | |
2 | g.222232078C>G | CA351112110 | PAX3 | c.792G>C (p.Gln264His) n.606G>C c.789G>C (p.Gln263His) c.936G>C (p.Gln312His) c.228G>C (p.Gln76His) n.287+10108C>G n.354C>G | |
2 | g.222232078C>T | CA2135584 | PAX3 | c.792G>A (p.Gln264=) n.606G>A c.789G>A (p.Gln263=) c.936G>A (p.Gln312=) c.228G>A (p.Gln76=) n.287+10108C>T n.354C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222232079T>A | CA351112114 | PAX3 | c.791A>T (p.Gln264Leu) n.605A>T c.788A>T (p.Gln263Leu) c.935A>T (p.Gln312Leu) c.227A>T (p.Gln76Leu) n.287+10109T>A n.355T>A | gnomAD v4 |
2 | g.222232079T>C | CA351112115 | PAX3 | c.791A>G (p.Gln264Arg) n.605A>G c.788A>G (p.Gln263Arg) c.935A>G (p.Gln312Arg) c.227A>G (p.Gln76Arg) n.287+10109T>C n.355T>C | gnomAD v4 |
2 | g.222232079T>G | CA351112117 | PAX3 | c.791A>C (p.Gln264Pro) n.605A>C c.788A>C (p.Gln263Pro) c.935A>C (p.Gln312Pro) c.227A>C (p.Gln76Pro) n.287+10109T>G n.355T>G | ClinVar dbSNP |
2 | g.222232079T= | CA1330516198 | PAX3 | c.791A= (p.Gln264=) n.605A= c.788A= (p.Gln263=) c.935A= (p.Gln312=) c.227A= (p.Gln76=) n.287+10109T= n.355T= | |
2 | g.222232080G>A | CA351112120 | PAX3 | c.790C>T (p.Gln264Ter) n.604C>T c.787C>T (p.Gln263Ter) c.934C>T (p.Gln312Ter) c.226C>T (p.Gln76Ter) n.287+10110G>A n.356G>A | ClinVar dbSNP |
2 | g.222232080G>C | CA351112121 | PAX3 | c.790C>G (p.Gln264Glu) n.604C>G c.787C>G (p.Gln263Glu) c.934C>G (p.Gln312Glu) c.226C>G (p.Gln76Glu) n.287+10110G>C n.356G>C | |
2 | g.222232080G= | CA1330516199 | PAX3 | c.790C= (p.Gln264=) n.604C= c.787C= (p.Gln263=) c.934C= (p.Gln312=) c.226C= (p.Gln76=) n.287+10110G= n.356G= | |
2 | g.222232080G>T | CA351112124 | PAX3 | c.790C>A (p.Gln264Lys) n.604C>A c.787C>A (p.Gln263Lys) c.934C>A (p.Gln312Lys) c.226C>A (p.Gln76Lys) n.287+10110G>T n.356G>T | |
2 | g.222232081T>A | CA431575581 | PAX3 | c.789A>T (p.Val263=) n.603A>T c.786A>T (p.Val262=) c.933A>T (p.Val311=) c.225A>T (p.Val75=) n.287+10111T>A n.357T>A | |
2 | g.222232081T>C | CA431575582 | PAX3 | c.789A>G (p.Val263=) n.603A>G c.786A>G (p.Val262=) c.933A>G (p.Val311=) c.225A>G (p.Val75=) n.287+10111T>C n.357T>C | gnomAD v4 |
2 | g.222232081T>G | CA431575583 | PAX3 | c.789A>C (p.Val263=) n.603A>C c.786A>C (p.Val262=) c.933A>C (p.Val311=) c.225A>C (p.Val75=) n.287+10111T>G n.357T>G | |
2 | g.222232082A>C | CA351112126 | PAX3 | c.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 | |
2 | g.222232082A>G | CA351112128 | PAX3 | c.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 | |
2 | g.222232082A>T | CA351112130 | PAX3 | c.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 | |
2 | g.222232083C>A | CA351112133 | PAX3 | c.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 | |
2 | g.222232083C>G | CA351112135 | PAX3 | c.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 | |
2 | g.222232083C>T | CA351112131 | PAX3 | c.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 |
2 | g.222232084T>A | CA431575584 | PAX3 | c.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 | |
2 | g.222232084T>C | CA431575586 | PAX3 | c.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 |
2 | g.222232084T>G | CA431575585 | PAX3 | c.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 | |
2 | g.222232084T= | CA1330516200 | PAX3 | c.786A= (p.Arg262=) n.600A= c.783A= (p.Arg261=) c.930A= (p.Arg310=) c.222A= (p.Arg74=) n.287+10114T= n.360T= | |
2 | g.222232085C>A | CA351112138 | PAX3 | c.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 | |
2 | g.222232085C= | CA1330516201 | PAX3 | c.785G= (p.Arg262=) n.599G= c.782G= (p.Arg261=) c.929G= (p.Arg310=) c.221G= (p.Arg74=) n.287+10115C= n.361C= | |
2 | g.222232085C>G | CA351112140 | PAX3 | c.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 | |
2 | g.222232085C>T | CA351112142 | PAX3 | c.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 |
2 | g.222232086G>A | CA10602851 | PAX3 | c.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 |
2 | g.222232086G>C | CA351112145 | PAX3 | c.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 |
2 | g.222232086G= | CA1330516202 | PAX3 | c.784C= (p.Arg262=) n.598C= c.781C= (p.Arg261=) c.928C= (p.Arg310=) c.220C= (p.Arg74=) n.287+10116G= n.362G= | |
2 | g.222232086G>T | CA431575587 | PAX3 | c.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 |
2 | g.222232087G>A | CA2135585 | PAX3 | c.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 |
2 | g.222232087G>C | CA431575588 | PAX3 | c.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 | |
2 | g.222232087G= | CA1330516203 | PAX3 | c.783C= (p.Ala261=) n.597C= c.780C= (p.Ala260=) c.927C= (p.Ala309=) c.219C= (p.Ala73=) n.287+10117G= n.363G= | |
2 | g.222232087G>T | CA431575589 | PAX3 | c.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 | |
2 | g.222232088G>A | CA351112151 | PAX3 | c.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 | |
2 | g.222232088G>C | CA351112148 | PAX3 | c.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 | |
2 | g.222232088G>T | CA351112150 | PAX3 | c.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 | |
2 | g.222232089C>A | CA351112154 | PAX3 | c.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 |
2 | g.222232089C= | CA1330516204 | PAX3 | c.781G= (p.Ala261=) n.595G= c.778G= (p.Ala260=) c.925G= (p.Ala309=) c.217G= (p.Ala73=) n.287+10119C= n.365C= | |
2 | g.222232089C>G | CA351112156 | PAX3 | c.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 | |
2 | g.222232089C>T | CA351112157 | PAX3 | c.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 | |
2 | g.222232090C>A | CA351112160 | PAX3 | c.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 | |
2 | g.222232090C= | CA1330516205 | PAX3 | c.780G= (p.Glu260=) n.594G= c.777G= (p.Glu259=) c.924G= (p.Glu308=) c.216G= (p.Glu72=) n.287+10120C= n.366C= | |
2 | g.222232090C>G | CA351112162 | PAX3 | c.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 | |
2 | g.222232090C>T | CA431575590 | PAX3 | c.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 |
2 | g.222232091T>A | CA351112164 | PAX3 | c.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 | |
2 | g.222232091T>C | CA351112167 | PAX3 | c.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 | |
2 | g.222232091T>G | CA351112166 | PAX3 | c.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 | |
2 | g.222232092C>A | CA351112169 | PAX3 | c.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 | |
2 | g.222232092C= | CA1330516206 | PAX3 | c.778G= (p.Glu260=) n.592G= c.775G= (p.Glu259=) c.922G= (p.Glu308=) c.214G= (p.Glu72=) n.287+10122C= n.368C= | |
2 | g.222232092C>G | CA351112173 | PAX3 | c.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 | |
2 | g.222232092C>T | CA351112171 | PAX3 | c.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 |
2 | g.222232093G>A | CA2135586 | PAX3 | c.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 |
2 | g.222232093G>C | CA431575592 | PAX3 | c.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 |
2 | g.222232093G= | CA1330516207 | PAX3 | c.777C= (p.Thr259=) n.591C= c.774C= (p.Thr258=) c.921C= (p.Thr307=) c.213C= (p.Thr71=) n.287+10123G= n.369G= | |
2 | g.222232093G>T | CA431575591 | PAX3 | c.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 | |
2 | g.222232094G>A | CA351112177 | PAX3 | c.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 | |
2 | g.222232094G>C | CA351112176 | PAX3 | c.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 | |
2 | g.222232094G>T | CA351112178 | PAX3 | c.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 | |
2 | g.222232095T>A | CA351112179 | PAX3 | c.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 | |
2 | g.222232095T>C | CA351112181 | PAX3 | c.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 | |
2 | g.222232095T>G | CA351112180 | PAX3 | c.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 |
2 | g.222232096G>A | CA431575593 | PAX3 | c.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 |
2 | g.222232096G>C | CA431575594 | PAX3 | c.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 | |
2 | g.222232096G>T | CA431575595 | PAX3 | c.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 |
2 | g.222232097A>C | CA351112182 | PAX3 | c.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 | |
2 | g.222232097A>G | CA351112183 | PAX3 | c.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 | |
2 | g.222232097A>T | CA351112184 | PAX3 | c.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 | |
2 | g.222232098G>A | CA351112185 | PAX3 | c.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 |
2 | g.222232098G>C | CA351112186 | PAX3 | c.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 | |
2 | g.222232098G= | CA1330516208 | PAX3 | c.772C= (p.Leu258=) n.586C= c.769C= (p.Leu257=) c.916C= (p.Leu306=) c.208C= (p.Leu70=) n.287+10128G= | |
2 | g.222232098G>T | CA351112187 | PAX3 | c.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 | |
2 | g.222232099C>A | CA351112188 | PAX3 | c.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 | |
2 | g.222232099C>G | CA351112189 | PAX3 | c.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 | |
2 | g.222232099C>T | CA431575596 | PAX3 | c.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 |
2 | g.222232100T>A | CA351112190 | PAX3 | c.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 | |
2 | g.222232100T>C | CA351112191 | PAX3 | c.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 | |
2 | g.222232100T>G | CA351112192 | PAX3 | c.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 | |
2 | g.222232101T>A | CA351112195 | PAX3 | c.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 | |
2 | g.222232101T>C | CA351112193 | PAX3 | c.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 | |
2 | g.222232101T>G | CA351112194 | PAX3 | c.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 | |
2 | g.222232102del | CA2573135303 | PAX3 | c.768del (p.Lys257SerfsTer27) n.582del c.765del (p.Lys256SerfsTer27) c.912del (p.Lys305SerfsTer27) c.204del (p.Lys69SerfsTer27) n.287+10132del | ClinVar dbSNP |
2 | g.222232102C>A | CA431575597 | PAX3 | c.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 | |
2 | g.222232102C= | CA1330516209 | PAX3 | c.768G= (p.Ala256=) n.582G= c.765G= (p.Ala255=) c.912G= (p.Ala304=) c.204G= (p.Ala68=) n.287+10132C= | |
2 | g.222232102C>G | CA431575598 | PAX3 | c.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 | |
2 | g.222232102C>T | CA2135587 | PAX3 | c.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 |
2 | g.222232103G>A | CA2135588 | PAX3 | c.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 |
2 | g.222232103G>C | CA351112196 | PAX3 | c.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 | |
2 | g.222232103G= | CA1330516210 | PAX3 | c.767C= (p.Ala256=) n.581C= c.764C= (p.Ala255=) c.911C= (p.Ala304=) c.203C= (p.Ala68=) n.287+10133G= | |
2 | g.222232103G>T | CA351112197 | PAX3 | c.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 | |
2 | g.222232104C>A | CA351112198 | PAX3 | c.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 | |
2 | g.222232104C>G | CA351112199 | PAX3 | c.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 | |
2 | g.222232104C>T | CA351112200 | PAX3 | c.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 | |
2 | g.222232105C>A | CA351112201 | PAX3 | c.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 |
2 | g.222232105C= | CA1330516211 | PAX3 | c.765G= (p.Arg255=) n.579G= c.762G= (p.Arg254=) c.909G= (p.Arg303=) c.201G= (p.Arg67=) n.287+10135C= | |
2 | g.222232105C>G | CA351112202 | PAX3 | c.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 | |
2 | g.222232105C>T | CA2135589 | PAX3 | c.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 |
2 | g.222232106C>A | CA351112203 | PAX3 | c.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 | |
2 | g.222232106C= | CA1330516212 | PAX3 | c.764G= (p.Arg255=) n.578G= c.761G= (p.Arg254=) c.908G= (p.Arg303=) c.200G= (p.Arg67=) n.287+10136C= | |
2 | g.222232106C>G | CA351112204 | PAX3 | c.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 | |
2 | g.222232106C>T | CA2135590 | PAX3 | c.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 |
2 | g.222232107T>A | CA351112205 | PAX3 | c.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 | |
2 | g.222232107T>C | CA351112206 | PAX3 | c.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 | |
2 | g.222232107T>G | CA431575599 | PAX3 | c.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 |
2 | g.222232107T= | CA1330516213 | PAX3 | c.763A= (p.Arg255=) n.577A= c.760A= (p.Arg254=) c.907A= (p.Arg303=) c.199A= (p.Arg67=) n.287+10137T= | |
2 | g.222232108C>A | CA351112207 | PAX3 | c.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 | |
2 | g.222232108C= | CA1330516214 | PAX3 | c.762G= (p.Gln254=) n.576G= c.759G= (p.Gln253=) c.906G= (p.Gln302=) c.198G= (p.Gln66=) n.287+10138C= | |
2 | g.222232108C>G | CA351112208 | PAX3 | c.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 | |
2 | g.222232108C>T | CA2135591 | PAX3 | c.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 |
2 | g.222232109T>A | CA351112211 | PAX3 | c.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 | |
2 | g.222232109T>C | CA351112210 | PAX3 | c.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 | |
2 | g.222232109T>G | CA351112209 | PAX3 | c.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 | |
2 | g.222232110G>A | CA351112212 | PAX3 | c.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 |
2 | g.222232110G>C | CA351112213 | PAX3 | c.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 | |
2 | g.222232110G>T | CA351112214 | PAX3 | c.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 | |
2 | g.222232111G>A | CA431575600 | PAX3 | c.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 | |
2 | g.222232111G>C | CA431575601 | PAX3 | c.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 | |
2 | g.222232111G>T | CA431575602 | PAX3 | c.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 | |
2 | g.222232112G>A | CA351112215 | PAX3 | c.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 | |
2 | g.222232112G>C | CA351112217 | PAX3 | c.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 | |
2 | g.222232112G>T | CA351112219 | PAX3 | c.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 | |
2 | g.222232113C>A | CA351112221 | PAX3 | c.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 | |
2 | g.222232113C>G | CA351112224 | PAX3 | c.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 | |
2 | g.222232113C>T | CA351112222 | PAX3 | c.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 |
2 | g.222232114C>A | CA431575603 | PAX3 | c.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 | |
2 | g.222232114C= | CA1330516215 | PAX3 | c.756G= (p.Leu252=) n.570G= c.753G= (p.Leu251=) c.900G= (p.Leu300=) c.192G= (p.Leu64=) n.287+10144C= | |
2 | g.222232114C>G | CA66333341 | PAX3 | c.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 |
2 | g.222232114C>T | CA2135592 | PAX3 | c.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 |
2 | g.222232115A= | CA1330516216 | PAX3 | c.755T= (p.Leu252=) n.569T= c.752T= (p.Leu251=) c.899T= (p.Leu300=) c.191T= (p.Leu64=) n.287+10145A= | |
2 | g.222232115A>C | CA351112227 | PAX3 | c.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 | |
2 | g.222232115A>G | CA351112229 | PAX3 | c.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 |
2 | g.222232115A>T | CA351112231 | PAX3 | c.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 | |
2 | g.222232116G>A | CA431575604 | PAX3 | c.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 |
2 | g.222232116G>C | CA351112233 | PAX3 | c.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 | |
2 | g.222232116G= | CA1330516217 | PAX3 | c.754C= (p.Leu252=) n.568C= c.751C= (p.Leu251=) c.898C= (p.Leu300=) c.190C= (p.Leu64=) n.287+10146G= | |
2 | g.222232116G>T | CA351112235 | PAX3 | c.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 | |
2 | g.222232117T>A | CA351112237 | PAX3 | c.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 | |
2 | g.222232117T>C | CA431575605 | PAX3 | c.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 |
2 | g.222232117T>G | CA351112238 | PAX3 | c.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 | |
2 | g.222232117T= | CA1330516218 | PAX3 | c.753A= (p.Glu251=) n.567A= c.750A= (p.Glu250=) c.897A= (p.Glu299=) c.189A= (p.Glu63=) n.287+10147T= | |
2 | g.222232118T>A | CA351112240 | PAX3 | c.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 | |
2 | g.222232118T>C | CA351112241 | PAX3 | c.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 |
2 | g.222232118T>G | CA351112243 | PAX3 | c.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 | |
2 | g.222232119C>A | CA351112249 | PAX3 | c.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 |
2 | g.222232119C>G | CA351112247 | PAX3 | c.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 | |
2 | g.222232119C>T | CA351112245 | PAX3 | c.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 |
2 | g.222232120C>A | CA351112251 | PAX3 | c.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 | |
2 | g.222232120C>G | CA351112253 | PAX3 | c.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 | |
2 | g.222232120C>T | CA431575606 | PAX3 | c.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 | |
2 | g.222232121T>A | CA351112255 | PAX3 | c.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 | |
2 | g.222232121T>C | CA351112256 | PAX3 | c.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 | |
2 | g.222232121T>G | CA351112257 | PAX3 | c.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 | |
2 | g.222232121T= | CA1330516219 | PAX3 | c.749A= (p.Glu250=) n.563A= c.746A= (p.Glu249=) c.893A= (p.Glu298=) c.185A= (p.Glu62=) n.287+10151T= | |
2 | g.222232122C>A | CA351112259 | PAX3 | c.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 | |
2 | g.222232122C>G | CA351112260 | PAX3 | c.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 | |
2 | g.222232122C>T | CA351112262 | PAX3 | c.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 |
2 | g.222232124dup | CA915941737 | PAX3 | c.748dup (p.Glu250GlyfsTer19) n.562dup c.745dup (p.Glu249GlyfsTer19) c.892dup (p.Glu298GlyfsTer19) c.184dup (p.Glu62GlyfsTer19) n.287+10154dup | ClinVar dbSNP |
2 | g.222232123C>A | CA351112264 | PAX3 | c.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 | |
2 | g.222232123C= | CA1330516220 | PAX3 | c.747G= (p.Arg249=) n.561G= c.744G= (p.Arg248=) c.891G= (p.Arg297=) c.183G= (p.Arg61=) n.287+10153C= | |
2 | g.222232123C>G | CA351112266 | PAX3 | c.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 | |
2 | g.222232123C>T | CA66333342 | PAX3 | c.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 |
2 | g.222232124C>A | CA351112267 | PAX3 | c.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 | |
2 | g.222232124C>G | CA351112269 | PAX3 | c.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 | |
2 | g.222232124C>T | CA351112271 | PAX3 | c.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 | |
2 | g.222232125T>A | CA351112273 | PAX3 | c.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 | |
2 | g.222232125T>C | CA351112275 | PAX3 | c.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 | |
2 | g.222232125T>G | CA431575607 | PAX3 | c.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 | |
2 | g.222232126A>C | CA431575608 | PAX3 | c.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 | |
2 | g.222232126A>G | CA431575609 | PAX3 | c.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 |
2 | g.222232126A>T | CA431575610 | PAX3 | c.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 | |
2 | g.222232127G>A | CA351112277 | PAX3 | c.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 |
2 | g.222232127G>C | CA351112281 | PAX3 | c.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 | |
2 | g.222232127G>T | CA351112279 | PAX3 | c.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 | |
2 | g.222232128T>A | CA351112283 | PAX3 | c.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 | |
2 | g.222232128T>C | CA351112284 | PAX3 | c.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 | |
2 | g.222232128T>G | CA351112286 | PAX3 | c.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 | |
2 | g.222232129A= | CA1330516221 | PAX3 | c.741T= (p.Tyr247=) n.555T= c.738T= (p.Tyr246=) c.885T= (p.Tyr295=) c.177T= (p.Tyr59=) n.287+10159A= | |
2 | g.222232129A>C | CA351112288 | PAX3 | c.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 | |
2 | g.222232129A>G | CA431575611 | PAX3 | c.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 |
2 | g.222232129A>T | CA351112290 | PAX3 | c.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 | |
2 | g.222232130T>A | CA351112292 | PAX3 | c.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 | |
2 | g.222232130T>C | CA351112294 | PAX3 | c.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 | |
2 | g.222232130T>G | CA66333343 | PAX3 | c.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 |
2 | g.222232130T= | CA1330516222 | PAX3 | c.740A= (p.Tyr247=) n.554A= c.737A= (p.Tyr246=) c.884A= (p.Tyr295=) c.176A= (p.Tyr59=) n.287+10160T= | |
2 | g.222232130_222232143delinsTAAATGTCAGGGTA | CA1330516223 | PAX3 | c.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 | |
2 | g.222232131A>C | CA351112298 | PAX3 | c.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 | |
2 | g.222232131A>G | CA351112300 | PAX3 | c.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 | |
2 | g.222232131A>T | CA351112301 | PAX3 | c.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 | |
2 | g.222232132_222232144del | CA658796184 | PAX3 | c.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 |
2 | g.222232132A= | CA1330516224 | PAX3 | c.738T= (p.Ile246=) n.552T= c.735T= (p.Ile245=) c.882T= (p.Ile294=) c.174T= (p.Ile58=) n.287+10162A= | |
2 | g.222232132A>C | CA351112302 | PAX3 | c.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 | |
2 | g.222232132A>G | CA431575612 | PAX3 | c.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 |
2 | g.222232132A>T | CA431575613 | PAX3 | c.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 | |
2 | g.222232133A>C | CA351112308 | PAX3 | c.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 | |
2 | g.222232133A>G | CA351112304 | PAX3 | c.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 | |
2 | g.222232133A>T | CA351112306 | PAX3 | c.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 | |
2 | g.222232134T>A | CA351112311 | PAX3 | c.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 | |
2 | g.222232134T>C | CA351112312 | PAX3 | c.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 |
2 | g.222232134T>G | CA351112314 | PAX3 | c.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 | |
2 | g.222232135G>A | CA2135593 | PAX3 | c.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 |
2 | g.222232135G>C | CA351112318 | PAX3 | c.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 |
2 | g.222232135G= | CA1330516225 | PAX3 | c.735C= (p.Asp245=) n.549C= c.732C= (p.Asp244=) c.879C= (p.Asp293=) c.171C= (p.Asp57=) n.287+10165G= | |
2 | g.222232135G>T | CA351112316 | PAX3 | c.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 | |
2 | g.222232136T>A | CA351112322 | PAX3 | c.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 | |
2 | g.222232136T>C | CA351112336 | PAX3 | c.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 | |
2 | g.222232136T>G | CA351112338 | PAX3 | c.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 | |
2 | g.222232137C>A | CA351112339 | PAX3 | c.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 | |
2 | g.222232137C>G | CA351112341 | PAX3 | c.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 | |
2 | g.222232137C>T | CA351112342 | PAX3 | c.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 | |
2 | g.222232138A>C | CA431575616 | PAX3 | c.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 | |
2 | g.222232138A>G | CA431575615 | PAX3 | c.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 | |
2 | g.222232138A>T | CA431575614 | PAX3 | c.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 | |
2 | g.222232139G>A | CA2135594 | PAX3 | c.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 |
2 | g.222232139G>C | CA351112347 | PAX3 | c.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 | |
2 | g.222232139G= | CA1330516226 | PAX3 | c.731C= (p.Pro244=) n.545C= c.728C= (p.Pro243=) c.875C= (p.Pro292=) c.167C= (p.Pro56=) n.287+10169G= | |
2 | g.222232139G>T | CA351112345 | PAX3 | c.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 |
2 | g.222232140G>A | CA351112349 | PAX3 | c.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 |
2 | g.222232140G>C | CA351112351 | PAX3 | c.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 | |
2 | g.222232140G= | CA1330516227 | PAX3 | c.730C= (p.Pro244=) n.544C= c.727C= (p.Pro243=) c.874C= (p.Pro292=) c.166C= (p.Pro56=) n.287+10170G= | |
2 | g.222232140G>T | CA351112353 | PAX3 | c.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 | |
2 | g.222232141G>A | CA431575617 | PAX3 | c.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 |
2 | g.222232141G>C | CA351112355 | PAX3 | c.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 | |
2 | g.222232141G= | CA1330516228 | PAX3 | c.729C= (p.Tyr243=) n.543C= c.726C= (p.Tyr242=) c.873C= (p.Tyr291=) c.165C= (p.Tyr55=) n.287+10171G= | |
2 | g.222232141G>T | CA351112357 | PAX3 | c.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 | |
2 | g.222232142T>A | CA351112359 | PAX3 | c.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 | |
2 | g.222232142T>C | CA351112360 | PAX3 | c.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 | |
2 | g.222232142T>G | CA351112363 | PAX3 | c.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 | |
2 | g.222232143A>C | CA351112364 | PAX3 | c.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 | |
2 | g.222232143A>G | CA351112365 | PAX3 | c.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 | |
2 | g.222232143A>T | CA351112367 | PAX3 | c.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 | |
2 | g.222232144A>C | CA351112369 | PAX3 | c.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 | |
2 | g.222232144A>G | CA431575618 | PAX3 | c.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 | |
2 | g.222232144A>T | CA351112371 | PAX3 | c.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 | |
2 | g.222232145T>A | CA351112374 | PAX3 | c.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 | |
2 | g.222232145T>C | CA351112377 | PAX3 | c.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 | |
2 | g.222232145T>G | CA351112375 | PAX3 | c.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 | |
2 | g.222232146G>A | CA351112378 | PAX3 | c.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 | |
2 | g.222232146G>C | CA351112382 | PAX3 | c.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 | |
2 | g.222232146G>T | CA351112380 | PAX3 | c.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 | |
2 | g.222232147A= | CA1330516229 | PAX3 | c.723T= (p.Thr241=) n.537T= c.720T= (p.Thr240=) c.867T= (p.Thr289=) c.159T= (p.Thr53=) n.287+10177A= | |
2 | g.222232147A>C | CA431575619 | PAX3 | c.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 |
2 | g.222232147A>G | CA2135595 | PAX3 | c.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 |
2 | g.222232147A>T | CA431575620 | PAX3 | c.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 | |
2 | g.222232148G>A | CA351112385 | PAX3 | c.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 | |
2 | g.222232148G>C | CA351112387 | PAX3 | c.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 |
2 | g.222232148G>T | CA351112388 | PAX3 | c.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 | |
2 | g.222232149T>A | CA2135596 | PAX3 | c.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 |
2 | g.222232149T>C | CA351112391 | PAX3 | c.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 | |
2 | g.222232149T>G | CA351112393 | PAX3 | c.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 | |
2 | g.222232149T= | CA1330516230 | PAX3 | c.721A= (p.Thr241=) n.535A= c.718A= (p.Thr240=) c.865A= (p.Thr289=) c.157A= (p.Thr53=) n.287+10179T= | |
2 | g.222232150T>A | CA351112395 | PAX3 | c.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 | |
2 | g.222232150T>C | CA431575621 | PAX3 | c.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 |
2 | g.222232150T>G | CA351112397 | PAX3 | c.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 | |
2 | g.222232151C>A | CA351112399 | PAX3 | c.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 |
2 | g.222232151C= | CA1330516231 | PAX3 | c.719G= (p.Arg240=) n.533G= c.716G= (p.Arg239=) c.863G= (p.Arg288=) c.155G= (p.Arg52=) n.287+10181C= | |
2 | g.222232151C>G | CA351112400 | PAX3 | c.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 | |
2 | g.222232151C>T | CA351112402 | PAX3 | c.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 |
2 | g.222232152T>A | CA351112404 | PAX3 | c.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 | |
2 | g.222232152T>C | CA351112406 | PAX3 | c.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 | |
2 | g.222232152T>G | CA431575622 | PAX3 | c.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 | |
2 | g.222232153C>A | CA351112408 | PAX3 | c.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 | |
2 | g.222232153C= | CA1330516232 | PAX3 | c.717G= (p.Glu239=) n.531G= c.714G= (p.Glu238=) c.861G= (p.Glu287=) c.153G= (p.Glu51=) n.287+10183C= | |
2 | g.222232153C>G | CA351112409 | PAX3 | c.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 |
2 | g.222232153C>T | CA431575623 | PAX3 | c.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 |
2 | g.222232154T>A | CA351112411 | PAX3 | c.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 | |
2 | g.222232154T>C | CA351112414 | PAX3 | c.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 |
2 | g.222232154T>G | CA351112415 | PAX3 | c.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 | |
2 | g.222232155C>A | CA351112418 | PAX3 | c.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 |
2 | g.222232155C= | CA1330516233 | PAX3 | c.715G= (p.Glu239=) n.529G= c.712G= (p.Glu238=) c.859G= (p.Glu287=) c.151G= (p.Glu51=) n.287+10185C= | |
2 | g.222232155C>G | CA351112420 | PAX3 | c.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 |
2 | g.222232155C>T | CA351112422 | PAX3 | c.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 | |
2 | g.222232156A>C | CA351112424 | PAX3 | c.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 | |
2 | g.222232156A>G | CA431575624 | PAX3 | c.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 | |
2 | g.222232156A>T | CA351112426 | PAX3 | c.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 | |
2 | g.222232156_222232158delinsCAGGGTAATG | CA2586971445 | PAX3 | c.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 | |
2 | g.222232159del | CA645523628 | PAX3 | c.714del (p.Phe238LeufsTer?) n.528del c.711del (p.Phe237LeufsTer?) c.858del (p.Phe286LeufsTer?) c.150del (p.Phe50LeufsTer?) n.287+10189del | COSMIC COSMIC |
2 | g.222232157A>C | CA351112431 | PAX3 | c.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 | |
2 | g.222232157A>G | CA351112430 | PAX3 | c.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 |
2 | g.222232157A>T | CA351112428 | PAX3 | c.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 | |
2 | g.222232158A>C | CA351112434 | PAX3 | c.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 | |
2 | g.222232158A>G | CA351112435 | PAX3 | c.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 | |
2 | g.222232158A>T | CA351112437 | PAX3 | c.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 | |
2 | g.222232159A>C | CA431575625 | PAX3 | c.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 | |
2 | g.222232159A>G | CA431575626 | PAX3 | c.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 | |
2 | g.222232159A>T | CA431575627 | PAX3 | c.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 | |
2 | g.222232160G>A | CA351112439 | PAX3 | c.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 | |
2 | g.222232160G>C | CA351112440 | PAX3 | c.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 | |
2 | g.222232160G>T | CA351112442 | PAX3 | c.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 |
2 | g.222232161C>A | CA351112445 | PAX3 | c.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 | |
2 | g.222232161C>G | CA351112446 | PAX3 | c.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 | |
2 | g.222232161C>T | CA351112448 | PAX3 | c.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 | |
2 | g.222232162A= | CA1330516234 | PAX3 | c.708T= (p.Arg236=) n.522T= c.705T= (p.Arg235=) c.852T= (p.Arg284=) c.144T= (p.Arg48=) n.287+10192A= | |
2 | g.222232162A>C | CA431575629 | PAX3 | c.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 | |
2 | g.222232162A>G | CA431575628 | PAX3 | c.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 |
2 | g.222232162A>T | CA2135597 | PAX3 | c.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 |
2 | g.222232163C>A | CA351112452 | PAX3 | c.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 |
2 | g.222232163C= | CA1330516235 | PAX3 | c.707G= (p.Arg236=) n.521G= c.704G= (p.Arg235=) c.851G= (p.Arg284=) c.143G= (p.Arg48=) n.287+10193C= | |
2 | g.222232163C>G | CA351112454 | PAX3 | c.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 | |
2 | g.222232163C>T | CA2135598 | PAX3 | c.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 |
2 | g.222232164G>A | CA351112458 | PAX3 | c.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 |
2 | g.222232164G>C | CA351112461 | PAX3 | c.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 |
2 | g.222232164G= | CA1330516236 | PAX3 | c.706C= (p.Arg236=) n.520C= c.703C= (p.Arg235=) c.850C= (p.Arg284=) c.142C= (p.Arg48=) n.287+10194G= | |
2 | g.222232164G>T | CA2135599 | PAX3 | c.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 |
2 | g.222232165C>A | CA351112464 | PAX3 | c.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 | |
2 | g.222232165C>G | CA351112465 | PAX3 | c.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 | |
2 | g.222232165C>T | CA431575630 | PAX3 | c.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 | |
2 | g.222232166T>A | CA351112467 | PAX3 | c.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 | |
2 | g.222232166T>C | CA351112469 | PAX3 | c.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 |
2 | g.222232166T>G | CA351112471 | PAX3 | c.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 | |
2 | g.222232166T= | CA1330516237 | PAX3 | c.704A= (p.Glu235=) n.518A= c.701A= (p.Glu234=) c.848A= (p.Glu283=) c.140A= (p.Glu47=) n.287+10196T= | |
2 | g.222232167C>A | CA351112473 | PAX3 | c.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 | |
2 | g.222232167C= | CA1330516238 | PAX3 | c.703G= (p.Glu235=) n.517G= c.700G= (p.Glu234=) c.847G= (p.Glu283=) c.139G= (p.Glu47=) n.287+10197C= | |
2 | g.222232167C>G | CA351112475 | PAX3 | c.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 | |
2 | g.222232167C>T | CA351112477 | PAX3 | c.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 |
2 | g.222232168C>A | CA431575631 | PAX3 | c.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 | |
2 | g.222232168C>G | CA431575633 | PAX3 | c.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 | |
2 | g.222232168C>T | CA431575632 | PAX3 | c.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 | |
2 | g.222232169A>C | CA351112480 | PAX3 | c.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 | |
2 | g.222232169A>G | CA351112481 | PAX3 | c.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 | |
2 | g.222232169A>T | CA351112483 | PAX3 | c.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 | |
2 | g.222232170G>A | CA431575634 | PAX3 | c.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 |
2 | g.222232170G>C | CA351112487 | PAX3 | c.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 | |
2 | g.222232170G>T | CA351112485 | PAX3 | c.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 |
2 | g.222232171T>A | CA351112488 | PAX3 | c.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 | |
2 | g.222232171T>C | CA431575635 | PAX3 | c.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 | |
2 | g.222232171T>G | CA351112489 | PAX3 | c.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 |