Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.222295599C>ACA351113192PAX3c.380G>T (p.Gly127Val)
n.761G>T
c.377G>T (p.Gly126Val)
c.524G>T (p.Gly175Val)
2g.222295599C=CA1330545796PAX3c.380G= (p.Gly127=)
n.761G=
c.377G= (p.Gly126=)
c.524G= (p.Gly175=)
2g.222295599C>GCA351113194PAX3c.380G>C (p.Gly127Ala)
n.761G>C
c.377G>C (p.Gly126Ala)
c.524G>C (p.Gly175Ala)
2g.222295599C>TCA351113193PAX3c.380G>A (p.Gly127Asp)
n.761G>A
c.377G>A (p.Gly126Asp)
c.524G>A (p.Gly175Asp)
 dbSNP gnomAD v2 gnomAD v4
2g.222295600C>ACA351113195PAX3c.379G>T (p.Gly127Cys)
n.760G>T
c.376G>T (p.Gly126Cys)
c.523G>T (p.Gly175Cys)
2g.222295600C>GCA351113196PAX3c.379G>C (p.Gly127Arg)
n.760G>C
c.376G>C (p.Gly126Arg)
c.523G>C (p.Gly175Arg)
 ClinVar gnomAD v4
2g.222295600C>TCA351113197PAX3c.379G>A (p.Gly127Ser)
n.760G>A
c.376G>A (p.Gly126Ser)
c.523G>A (p.Gly175Ser)
2g.222295601C>ACA431575837PAX3c.378G>T (p.Pro126=)
n.759G>T
c.375G>T (p.Pro125=)
c.522G>T (p.Pro174=)
 COSMIC COSMIC COSMIC COSMIC
2g.222295601C=CA1330545797PAX3c.378G= (p.Pro126=)
n.759G=
c.375G= (p.Pro125=)
c.522G= (p.Pro174=)
2g.222295601C>GCA431575838PAX3c.378G>C (p.Pro126=)
n.759G>C
c.375G>C (p.Pro125=)
c.522G>C (p.Pro174=)
2g.222295601C>TCA66340498PAX3c.378G>A (p.Pro126=)
n.759G>A
c.375G>A (p.Pro125=)
c.522G>A (p.Pro174=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.222295602G>ACA2135755PAX3c.377C>T (p.Pro126Leu)
n.758C>T
c.374C>T (p.Pro125Leu)
c.521C>T (p.Pro174Leu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295602G>CCA351113198PAX3c.377C>G (p.Pro126Arg)
n.758C>G
c.374C>G (p.Pro125Arg)
c.521C>G (p.Pro174Arg)
 gnomAD v4
2g.222295602G=CA1330545798PAX3c.377C= (p.Pro126=)
n.758C=
c.374C= (p.Pro125=)
c.521C= (p.Pro174=)
2g.222295602G>TCA351113199PAX3c.377C>A (p.Pro126Gln)
n.758C>A
c.374C>A (p.Pro125Gln)
c.521C>A (p.Pro174Gln)
2g.222295603G>ACA351113200PAX3c.376C>T (p.Pro126Ser)
n.757C>T
c.373C>T (p.Pro125Ser)
c.520C>T (p.Pro174Ser)
2g.222295603G>CCA351113201PAX3c.376C>G (p.Pro126Ala)
n.757C>G
c.373C>G (p.Pro125Ala)
c.520C>G (p.Pro174Ala)
2g.222295603G>TCA351113202PAX3c.376C>A (p.Pro126Thr)
n.757C>A
c.373C>A (p.Pro125Thr)
c.520C>A (p.Pro174Thr)
2g.222295604G>ACA431575839PAX3c.375C>T (p.Asn125=)
n.756C>T
c.372C>T (p.Asn124=)
c.519C>T (p.Asn173=)
 gnomAD v4
2g.222295604G>CCA351113203PAX3c.375C>G (p.Asn125Lys)
n.756C>G
c.372C>G (p.Asn124Lys)
c.519C>G (p.Asn173Lys)
 gnomAD v4 COSMIC
2g.222295604G=CA1330545799PAX3c.375C= (p.Asn125=)
n.756C=
c.372C= (p.Asn124=)
c.519C= (p.Asn173=)
2g.222295604G>TCA351113204PAX3c.375C>A (p.Asn125Lys)
n.756C>A
c.372C>A (p.Asn124Lys)
c.519C>A (p.Asn173Lys)
 dbSNP
2g.222295605T>ACA351113207PAX3c.374A>T (p.Asn125Ile)
n.755A>T
c.371A>T (p.Asn124Ile)
c.518A>T (p.Asn173Ile)
2g.222295605T>CCA351113205PAX3c.374A>G (p.Asn125Ser)
n.755A>G
c.371A>G (p.Asn124Ser)
c.518A>G (p.Asn173Ser)
2g.222295605T>GCA351113206PAX3c.374A>C (p.Asn125Thr)
n.755A>C
c.371A>C (p.Asn124Thr)
c.518A>C (p.Asn173Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.222295606T>ACA351113208PAX3c.373A>T (p.Asn125Tyr)
n.754A>T
c.370A>T (p.Asn124Tyr)
c.517A>T (p.Asn173Tyr)
2g.222295606T>CCA351113209PAX3c.373A>G (p.Asn125Asp)
n.754A>G
c.370A>G (p.Asn124Asp)
c.517A>G (p.Asn173Asp)
 gnomAD v4
2g.222295606T>GCA351113210PAX3c.373A>C (p.Asn125His)
n.754A>C
c.370A>C (p.Asn124His)
c.517A>C (p.Asn173His)
2g.222295611_222295612delCA2580616712PAX3c.372_373del (p.Asn125ProfsTer19)
n.753_754del
c.369_370del (p.Asn124ProfsTer19)
c.516_517del (p.Asn173ProfsTer19)
 ClinVar dbSNP
2g.222295607C>ACA351113211PAX3c.372G>T (p.Glu124Asp)
n.753G>T
c.369G>T (p.Glu123Asp)
c.516G>T (p.Glu172Asp)
2g.222295607C>GCA351113212PAX3c.372G>C (p.Glu124Asp)
n.753G>C
c.369G>C (p.Glu123Asp)
c.516G>C (p.Glu172Asp)
2g.222295607C>TCA431575840PAX3c.372G>A (p.Glu124=)
n.753G>A
c.369G>A (p.Glu123=)
c.516G>A (p.Glu172=)
2g.222295608T>ACA351113213PAX3c.371A>T (p.Glu124Val)
n.752A>T
c.368A>T (p.Glu123Val)
c.515A>T (p.Glu172Val)
2g.222295608T>CCA351113214PAX3c.371A>G (p.Glu124Gly)
n.752A>G
c.368A>G (p.Glu123Gly)
c.515A>G (p.Glu172Gly)
2g.222295608T>GCA351113215PAX3c.371A>C (p.Glu124Ala)
n.752A>C
c.368A>C (p.Glu123Ala)
c.515A>C (p.Glu172Ala)
2g.222295609C>ACA351113216PAX3c.370G>T (p.Glu124Ter)
n.751G>T
c.367G>T (p.Glu123Ter)
c.514G>T (p.Glu172Ter)
2g.222295609C>GCA351113217PAX3c.370G>C (p.Glu124Gln)
n.751G>C
c.367G>C (p.Glu123Gln)
c.514G>C (p.Glu172Gln)
 gnomAD v4
2g.222295609C>TCA351113218PAX3c.370G>A (p.Glu124Lys)
n.751G>A
c.367G>A (p.Glu123Lys)
c.514G>A (p.Glu172Lys)
 gnomAD v4
2g.222295609_222295614delinsCTCTTTCA1330545800PAX3c.365_370delinsAAAGAG (p.Lys122=)
n.746_751delinsAAAGAG
c.362_367delinsAAAGAG (p.Lys121=)
c.509_514delinsAAAGAG (p.Lys170=)
2g.222295610T>ACA351113219PAX3c.369A>T (p.Arg123Ser)
n.750A>T
c.366A>T (p.Arg122Ser)
c.513A>T (p.Arg171Ser)
2g.222295610T>CCA431575841PAX3c.369A>G (p.Arg123=)
n.750A>G
c.366A>G (p.Arg122=)
c.513A>G (p.Arg171=)
2g.222295610T>GCA351113220PAX3c.369A>C (p.Arg123Ser)
n.750A>C
c.366A>C (p.Arg122Ser)
c.513A>C (p.Arg171Ser)
 gnomAD v4
2g.222295611_222295615delCA913190011PAX3c.365_369del (p.Lys122ArgfsTer21)
n.746_750del
c.362_366del (p.Lys121ArgfsTer21)
c.509_513del (p.Lys170ArgfsTer21)
 ClinVar dbSNP
2g.222295611C>ACA351113223PAX3c.368G>T (p.Arg123Ile)
n.749G>T
c.365G>T (p.Arg122Ile)
c.512G>T (p.Arg171Ile)
2g.222295611C>GCA351113222PAX3c.368G>C (p.Arg123Thr)
n.749G>C
c.365G>C (p.Arg122Thr)
c.512G>C (p.Arg171Thr)
 COSMIC COSMIC COSMIC COSMIC
2g.222295611C>TCA351113221PAX3c.368G>A (p.Arg123Lys)
n.749G>A
c.365G>A (p.Arg122Lys)
c.512G>A (p.Arg171Lys)
 gnomAD v4
2g.222295612T>ACA351113224PAX3c.367A>T (p.Arg123Ter)
n.748A>T
c.364A>T (p.Arg122Ter)
c.511A>T (p.Arg171Ter)
 COSMIC COSMIC COSMIC COSMIC
2g.222295612T>CCA351113225PAX3c.367A>G (p.Arg123Gly)
n.748A>G
c.364A>G (p.Arg122Gly)
c.511A>G (p.Arg171Gly)
 dbSNP gnomAD v2 gnomAD v4
2g.222295612T>GCA431575842PAX3c.367A>C (p.Arg123=)
n.748A>C
c.364A>C (p.Arg122=)
c.511A>C (p.Arg171=)
2g.222295612T=CA1330545801PAX3c.367A= (p.Arg123=)
n.748A=
c.364A= (p.Arg122=)
c.511A= (p.Arg171=)
2g.222295614_222295615delCA2499215689PAX3c.366_367del (p.Asn125ProfsTer19)
n.747_748del
c.363_364del (p.Asn124ProfsTer19)
c.510_511del (p.Asn173ProfsTer19)
 ClinVar dbSNP
2g.222295612_222295613insGACGCA1330545802PAX3c.366_367insCGTC (p.Glu124GlnfsTer22)
n.747_748insCGTC
c.363_364insCGTC (p.Glu123GlnfsTer22)
c.510_511insCGTC (p.Glu172GlnfsTer22)
 dbSNP
2g.222295612_222295613insAATAAACGCTCTGCCTCCGCCTCACGCA2135756PAX3c.366_367insCGTGAGGCGGAGGCAGAGCGTTTATT (p.Asn125AlafsTer36)
n.747_748insCGTGAGGCGGAGGCAGAGCGTTTATT
c.363_364insCGTGAGGCGGAGGCAGAGCGTTTATT (p.Asn124AlafsTer36)
c.510_511insCGTGAGGCGGAGGCAGAGCGTTTATT (p.Asn173AlafsTer36)
 dbSNP ExAC
2g.222295613T>ACA351113226PAX3c.366A>T (p.Lys122Asn)
n.747A>T
c.363A>T (p.Lys121Asn)
c.510A>T (p.Lys170Asn)
 COSMIC COSMIC COSMIC COSMIC
2g.222295613T>CCA431575843PAX3c.366A>G (p.Lys122=)
n.747A>G
c.363A>G (p.Lys121=)
c.510A>G (p.Lys170=)
2g.222295613T>GCA351113227PAX3c.366A>C (p.Lys122Asn)
n.747A>C
c.363A>C (p.Lys121Asn)
c.510A>C (p.Lys170Asn)
2g.222295614T>ACA351113228PAX3c.365A>T (p.Lys122Ile)
n.746A>T
c.362A>T (p.Lys121Ile)
c.509A>T (p.Lys170Ile)
2g.222295614T>CCA351113229PAX3c.365A>G (p.Lys122Arg)
n.746A>G
c.362A>G (p.Lys121Arg)
c.509A>G (p.Lys170Arg)
2g.222295614T>GCA351113230PAX3c.365A>C (p.Lys122Thr)
n.746A>C
c.362A>C (p.Lys121Thr)
c.509A>C (p.Lys170Thr)
2g.222295615T>ACA351113231PAX3c.364A>T (p.Lys122Ter)
n.745A>T
c.361A>T (p.Lys121Ter)
c.508A>T (p.Lys170Ter)
2g.222295615T>CCA351113232PAX3c.364A>G (p.Lys122Glu)
n.745A>G
c.361A>G (p.Lys121Glu)
c.508A>G (p.Lys170Glu)
 ClinVar dbSNP gnomAD v4
2g.222295615T>GCA351113233PAX3c.364A>C (p.Lys122Gln)
n.745A>C
c.361A>C (p.Lys121Gln)
c.508A>C (p.Lys170Gln)
2g.222295615T=CA1330545803PAX3c.364A= (p.Lys122=)
n.745A=
c.361A= (p.Lys121=)
c.508A= (p.Lys170=)
2g.222295616G>ACA431575844PAX3c.363C>T (p.Tyr121=)
n.744C>T
c.360C>T (p.Tyr120=)
c.507C>T (p.Tyr169=)
 dbSNP gnomAD v3 gnomAD v4
2g.222295616G>CCA351113234PAX3c.363C>G (p.Tyr121Ter)
n.744C>G
c.360C>G (p.Tyr120Ter)
c.507C>G (p.Tyr169Ter)
2g.222295616G=CA1330545804PAX3c.363C= (p.Tyr121=)
n.744C=
c.360C= (p.Tyr120=)
c.507C= (p.Tyr169=)
2g.222295616G>TCA351113235PAX3c.363C>A (p.Tyr121Ter)
n.744C>A
c.360C>A (p.Tyr120Ter)
c.507C>A (p.Tyr169Ter)
2g.222295617T>ACA2135757PAX3c.362A>T (p.Tyr121Phe)
n.743A>T
c.359A>T (p.Tyr120Phe)
c.506A>T (p.Tyr169Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295617T>CCA351113237PAX3c.362A>G (p.Tyr121Cys)
n.743A>G
c.359A>G (p.Tyr120Cys)
c.506A>G (p.Tyr169Cys)
2g.222295617T>GCA351113236PAX3c.362A>C (p.Tyr121Ser)
n.743A>C
c.359A>C (p.Tyr120Ser)
c.506A>C (p.Tyr169Ser)
2g.222295617T=CA1330545805PAX3c.362A= (p.Tyr121=)
n.743A=
c.359A= (p.Tyr120=)
c.506A= (p.Tyr169=)
2g.222295618A>CCA351113238PAX3c.361T>G (p.Tyr121Asp)
n.742T>G
c.358T>G (p.Tyr120Asp)
c.505T>G (p.Tyr169Asp)
2g.222295618A>GCA351113240PAX3c.361T>C (p.Tyr121His)
n.742T>C
c.358T>C (p.Tyr120His)
c.505T>C (p.Tyr169His)
 gnomAD v4
2g.222295618A>TCA351113239PAX3c.361T>A (p.Tyr121Asn)
n.742T>A
c.358T>A (p.Tyr120Asn)
c.505T>A (p.Tyr169Asn)
2g.222295619T>ACA351113241PAX3c.360A>T (p.Glu120Asp)
n.741A>T
c.357A>T (p.Glu119Asp)
c.504A>T (p.Glu168Asp)
 dbSNP
2g.222295619T>CCA431575845PAX3c.360A>G (p.Glu120=)
n.741A>G
c.357A>G (p.Glu119=)
c.504A>G (p.Glu168=)
 gnomAD v4
2g.222295619T>GCA351113242PAX3c.360A>C (p.Glu120Asp)
n.741A>C
c.357A>C (p.Glu119Asp)
c.504A>C (p.Glu168Asp)
2g.222295619T=CA1330545806PAX3c.360A= (p.Glu120=)
n.741A=
c.357A= (p.Glu119=)
c.504A= (p.Glu168=)
2g.222295620T>ACA351113243PAX3c.359A>T (p.Glu120Val)
n.740A>T
c.356A>T (p.Glu119Val)
c.503A>T (p.Glu168Val)
2g.222295620T>CCA351113244PAX3c.359A>G (p.Glu120Gly)
n.740A>G
c.356A>G (p.Glu119Gly)
c.503A>G (p.Glu168Gly)
2g.222295620T>GCA351113245PAX3c.359A>C (p.Glu120Ala)
n.740A>C
c.356A>C (p.Glu119Ala)
c.503A>C (p.Glu168Ala)
2g.222295621C>ACA351113246PAX3c.358G>T (p.Glu120Ter)
n.739G>T
c.355G>T (p.Glu119Ter)
c.502G>T (p.Glu168Ter)
2g.222295621C>GCA351113247PAX3c.358G>C (p.Glu120Gln)
n.739G>C
c.355G>C (p.Glu119Gln)
c.502G>C (p.Glu168Gln)
2g.222295621C>TCA351113248PAX3c.358G>A (p.Glu120Lys)
n.739G>A
c.355G>A (p.Glu119Lys)
c.502G>A (p.Glu168Lys)
 gnomAD v4
2g.222295622delCA2586971540PAX3c.358del (p.Glu120AsnfsTer?)
n.739del
c.355del (p.Glu119AsnfsTer?)
c.502del (p.Glu168AsnfsTer?)
2g.222295622C>ACA351113249PAX3c.357G>T (p.Glu119Asp)
n.738G>T
c.354G>T (p.Glu118Asp)
c.501G>T (p.Glu167Asp)
2g.222295622C=CA1330545807PAX3c.357G= (p.Glu119=)
n.738G=
c.354G= (p.Glu118=)
c.501G= (p.Glu167=)
2g.222295622C>GCA351113250PAX3c.357G>C (p.Glu119Asp)
n.738G>C
c.354G>C (p.Glu118Asp)
c.501G>C (p.Glu167Asp)
2g.222295622C>TCA2135758PAX3c.357G>A (p.Glu119=)
n.738G>A
c.354G>A (p.Glu118=)
c.501G>A (p.Glu167=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222295623T>ACA351113253PAX3c.356A>T (p.Glu119Val)
n.737A>T
c.353A>T (p.Glu118Val)
c.500A>T (p.Glu167Val)
2g.222295623T>CCA351113252PAX3c.356A>G (p.Glu119Gly)
n.737A>G
c.353A>G (p.Glu118Gly)
c.500A>G (p.Glu167Gly)
2g.222295623T>GCA351113251PAX3c.356A>C (p.Glu119Ala)
n.737A>C
c.353A>C (p.Glu118Ala)
c.500A>C (p.Glu167Ala)
2g.222295624C>ACA351113254PAX3c.355G>T (p.Glu119Ter)
n.736G>T
c.352G>T (p.Glu118Ter)
c.499G>T (p.Glu167Ter)
2g.222295624C>GCA351113255PAX3c.355G>C (p.Glu119Gln)
n.736G>C
c.352G>C (p.Glu118Gln)
c.499G>C (p.Glu167Gln)
2g.222295624C>TCA351113256PAX3c.355G>A (p.Glu119Lys)
n.736G>A
c.352G>A (p.Glu118Lys)
c.499G>A (p.Glu167Lys)
 COSMIC COSMIC COSMIC COSMIC
2g.222295625A=CA1330545808PAX3c.354T= (p.Ile118=)
n.735T=
c.351T= (p.Ile117=)
c.498T= (p.Ile166=)
2g.222295625A>CCA351113257PAX3c.354T>G (p.Ile118Met)
n.735T>G
c.351T>G (p.Ile117Met)
c.498T>G (p.Ile166Met)
 dbSNP gnomAD v3 gnomAD v4
2g.222295625A>GCA431575846PAX3c.354T>C (p.Ile118=)
n.735T>C
c.351T>C (p.Ile117=)
c.498T>C (p.Ile166=)
2g.222295625A>TCA431575847PAX3c.354T>A (p.Ile118=)
n.735T>A
c.351T>A (p.Ile117=)
c.498T>A (p.Ile166=)
2g.222295626A>CCA351113258PAX3c.353T>G (p.Ile118Ser)
n.734T>G
c.350T>G (p.Ile117Ser)
c.497T>G (p.Ile166Ser)
2g.222295626A>GCA351113259PAX3c.353T>C (p.Ile118Thr)
n.734T>C
c.350T>C (p.Ile117Thr)
c.497T>C (p.Ile166Thr)
2g.222295626A>TCA351113260PAX3c.353T>A (p.Ile118Asn)
n.734T>A
c.350T>A (p.Ile117Asn)
c.497T>A (p.Ile166Asn)
2g.222295627T>ACA351113261PAX3c.352A>T (p.Ile118Phe)
n.733A>T
c.349A>T (p.Ile117Phe)
c.496A>T (p.Ile166Phe)
2g.222295627T>CCA351113262PAX3c.352A>G (p.Ile118Val)
n.733A>G
c.349A>G (p.Ile117Val)
c.496A>G (p.Ile166Val)
2g.222295627T>GCA351113263PAX3c.352A>C (p.Ile118Leu)
n.733A>C
c.349A>C (p.Ile117Leu)
c.496A>C (p.Ile166Leu)
2g.222295628T>ACA351113264PAX3c.351A>T (p.Lys117Asn)
n.732A>T
c.348A>T (p.Lys116Asn)
c.495A>T (p.Lys165Asn)
2g.222295628T>CCA431575848PAX3c.351A>G (p.Lys117=)
n.732A>G
c.348A>G (p.Lys116=)
c.495A>G (p.Lys165=)
2g.222295628T>GCA351113265PAX3c.351A>C (p.Lys117Asn)
n.732A>C
c.348A>C (p.Lys116Asn)
c.495A>C (p.Lys165Asn)
2g.222295629T>ACA351113268PAX3c.350A>T (p.Lys117Ile)
n.731A>T
c.347A>T (p.Lys116Ile)
c.494A>T (p.Lys165Ile)
2g.222295629T>CCA351113267PAX3c.350A>G (p.Lys117Arg)
n.731A>G
c.347A>G (p.Lys116Arg)
c.494A>G (p.Lys165Arg)
2g.222295629T>GCA351113266PAX3c.350A>C (p.Lys117Thr)
n.731A>C
c.347A>C (p.Lys116Thr)
c.494A>C (p.Lys165Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.222295629T=CA1330545809PAX3c.350A= (p.Lys117=)
n.731A=
c.347A= (p.Lys116=)
c.494A= (p.Lys165=)
2g.222295630T>ACA351113269PAX3c.349A>T (p.Lys117Ter)
n.730A>T
c.346A>T (p.Lys116Ter)
c.493A>T (p.Lys165Ter)
2g.222295630T>CCA351113270PAX3c.349A>G (p.Lys117Glu)
n.730A>G
c.346A>G (p.Lys116Glu)
c.493A>G (p.Lys165Glu)
 gnomAD v4
2g.222295630T>GCA351113271PAX3c.349A>C (p.Lys117Gln)
n.730A>C
c.346A>C (p.Lys116Gln)
c.493A>C (p.Lys165Gln)
2g.222295631C>ACA351113272PAX3c.348G>T (p.Lys116Asn)
n.729G>T
c.345G>T (p.Lys115Asn)
c.492G>T (p.Lys164Asn)
2g.222295631C>GCA351113273PAX3c.348G>C (p.Lys116Asn)
n.729G>C
c.345G>C (p.Lys115Asn)
c.492G>C (p.Lys164Asn)
2g.222295631C>TCA431575849PAX3c.348G>A (p.Lys116=)
n.729G>A
c.345G>A (p.Lys115=)
c.492G>A (p.Lys164=)
2g.222295632T>ACA351113274PAX3c.347A>T (p.Lys116Met)
n.728A>T
c.344A>T (p.Lys115Met)
c.491A>T (p.Lys164Met)
2g.222295632T>CCA351113275PAX3c.347A>G (p.Lys116Arg)
n.728A>G
c.344A>G (p.Lys115Arg)
c.491A>G (p.Lys164Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222295632T>GCA351113276PAX3c.347A>C (p.Lys116Thr)
n.728A>C
c.344A>C (p.Lys115Thr)
c.491A>C (p.Lys164Thr)
2g.222295632T=CA1330545810PAX3c.347A= (p.Lys116=)
n.728A=
c.344A= (p.Lys115=)
c.491A= (p.Lys164=)
2g.222295633T>ACA351113277PAX3c.346A>T (p.Lys116Ter)
n.727A>T
c.343A>T (p.Lys115Ter)
c.490A>T (p.Lys164Ter)
2g.222295633T>CCA351113278PAX3c.346A>G (p.Lys116Glu)
n.727A>G
c.343A>G (p.Lys115Glu)
c.490A>G (p.Lys164Glu)
2g.222295633T>GCA351113279PAX3c.346A>C (p.Lys116Gln)
n.727A>C
c.343A>C (p.Lys115Gln)
c.490A>C (p.Lys164Gln)
2g.222295634C>ACA351113280PAX3c.345G>T (p.Glu115Asp)
n.726G>T
c.342G>T (p.Glu114Asp)
c.489G>T (p.Glu163Asp)
2g.222295634C>GCA351113281PAX3c.345G>C (p.Glu115Asp)
n.726G>C
c.342G>C (p.Glu114Asp)
c.489G>C (p.Glu163Asp)
2g.222295634C>TCA431575850PAX3c.345G>A (p.Glu115=)
n.726G>A
c.342G>A (p.Glu114=)
c.489G>A (p.Glu163=)
 COSMIC COSMIC COSMIC COSMIC
2g.222295635_222295637delCA2663323848PAX3c.343_345del (p.Glu115del)
n.724_726del
c.340_342del (p.Glu114del)
c.487_489del (p.Glu163del)
 gnomAD v4
2g.222295635T>ACA351113284PAX3c.344A>T (p.Glu115Val)
n.725A>T
c.341A>T (p.Glu114Val)
c.488A>T (p.Glu163Val)
2g.222295635T>CCA351113282PAX3c.344A>G (p.Glu115Gly)
n.725A>G
c.341A>G (p.Glu114Gly)
c.488A>G (p.Glu163Gly)
2g.222295635T>GCA351113283PAX3c.344A>C (p.Glu115Ala)
n.725A>C
c.341A>C (p.Glu114Ala)
c.488A>C (p.Glu163Ala)
2g.222295636C>ACA351113285PAX3c.343G>T (p.Glu115Ter)
n.724G>T
c.340G>T (p.Glu114Ter)
c.487G>T (p.Glu163Ter)
 COSMIC COSMIC COSMIC COSMIC
2g.222295636C>GCA351113286PAX3c.343G>C (p.Glu115Gln)
n.724G>C
c.340G>C (p.Glu114Gln)
c.487G>C (p.Glu163Gln)
2g.222295636C>TCA351113287PAX3c.343G>A (p.Glu115Lys)
n.724G>A
c.340G>A (p.Glu114Lys)
c.487G>A (p.Glu163Lys)
2g.222295637C>ACA431575851PAX3c.342G>T (p.Val114=)
n.723G>T
c.339G>T (p.Val113=)
c.486G>T (p.Val162=)
2g.222295637C=CA1330545811PAX3c.342G= (p.Val114=)
n.723G=
c.339G= (p.Val113=)
c.486G= (p.Val162=)
2g.222295637C>GCA431575852PAX3c.342G>C (p.Val114=)
n.723G>C
c.339G>C (p.Val113=)
c.486G>C (p.Val162=)
2g.222295637C>TCA66340499PAX3c.342G>A (p.Val114=)
n.723G>A
c.339G>A (p.Val113=)
c.486G>A (p.Val162=)
 ClinVar dbSNP
2g.222295638A>CCA351113288PAX3c.341T>G (p.Val114Gly)
n.722T>G
c.338T>G (p.Val113Gly)
c.485T>G (p.Val162Gly)
2g.222295638A>GCA351113289PAX3c.341T>C (p.Val114Ala)
n.722T>C
c.338T>C (p.Val113Ala)
c.485T>C (p.Val162Ala)
2g.222295638A>TCA351113290PAX3c.341T>A (p.Val114Glu)
n.722T>A
c.338T>A (p.Val113Glu)
c.485T>A (p.Val162Glu)
2g.222295639C>ACA2135759PAX3c.340G>T (p.Val114Leu)
n.721G>T
c.337G>T (p.Val113Leu)
c.484G>T (p.Val162Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222295639C=CA1330545812PAX3c.340G= (p.Val114=)
n.721G=
c.337G= (p.Val113=)
c.484G= (p.Val162=)
2g.222295639C>GCA351113291PAX3c.340G>C (p.Val114Leu)
n.721G>C
c.337G>C (p.Val113Leu)
c.484G>C (p.Val162Leu)
2g.222295639C>TCA2135760PAX3c.340G>A (p.Val114Met)
n.721G>A
c.337G>A (p.Val113Met)
c.484G>A (p.Val162Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222295640G>ACA66340500PAX3c.339C>T (p.Asp113=)
n.720C>T
c.336C>T (p.Asp112=)
c.483C>T (p.Asp161=)
 dbSNP gnomAD v2 gnomAD v4
2g.222295640G>CCA351113292PAX3c.339C>G (p.Asp113Glu)
n.720C>G
c.336C>G (p.Asp112Glu)
c.483C>G (p.Asp161Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222295640G=CA1330545813PAX3c.339C= (p.Asp113=)
n.720C=
c.336C= (p.Asp112=)
c.483C= (p.Asp161=)
2g.222295640G>TCA351113293PAX3c.339C>A (p.Asp113Glu)
n.720C>A
c.336C>A (p.Asp112Glu)
c.483C>A (p.Asp161Glu)
 gnomAD v4
2g.222295641T>ACA351113295PAX3c.338A>T (p.Asp113Val)
n.719A>T
c.335A>T (p.Asp112Val)
c.482A>T (p.Asp161Val)
 gnomAD v4
2g.222295641T>CCA351113296PAX3c.338A>G (p.Asp113Gly)
n.719A>G
c.335A>G (p.Asp112Gly)
c.482A>G (p.Asp161Gly)
2g.222295641T>GCA351113294PAX3c.338A>C (p.Asp113Ala)
n.719A>C
c.335A>C (p.Asp112Ala)
c.482A>C (p.Asp161Ala)
2g.222295642C>ACA351113298PAX3c.337G>T (p.Asp113Tyr)
n.718G>T
c.334G>T (p.Asp112Tyr)
c.481G>T (p.Asp161Tyr)
2g.222295642C>GCA351113297PAX3c.337G>C (p.Asp113His)
n.718G>C
c.334G>C (p.Asp112His)
c.481G>C (p.Asp161His)
2g.222295642C>TCA351113299PAX3c.337G>A (p.Asp113Asn)
n.718G>A
c.334G>A (p.Asp112Asn)
c.481G>A (p.Asp161Asn)
2g.222295643A>CCA431575854PAX3c.336T>G (p.Pro112=)
n.717T>G
c.333T>G (p.Pro111=)
c.480T>G (p.Pro160=)
2g.222295643A>GCA431575855PAX3c.336T>C (p.Pro112=)
n.717T>C
c.333T>C (p.Pro111=)
c.480T>C (p.Pro160=)
2g.222295643A>TCA431575853PAX3c.336T>A (p.Pro112=)
n.717T>A
c.333T>A (p.Pro111=)
c.480T>A (p.Pro160=)
2g.222295644G>ACA351113300PAX3c.335C>T (p.Pro112Leu)
n.716C>T
c.332C>T (p.Pro111Leu)
c.479C>T (p.Pro160Leu)
2g.222295644G>CCA351113302PAX3c.335C>G (p.Pro112Arg)
n.716C>G
c.332C>G (p.Pro111Arg)
c.479C>G (p.Pro160Arg)
2g.222295644G>TCA351113301PAX3c.335C>A (p.Pro112His)
n.716C>A
c.332C>A (p.Pro111His)
c.479C>A (p.Pro160His)
2g.222295645G>ACA351113303PAX3c.334C>T (p.Pro112Ser)
n.715C>T
c.331C>T (p.Pro111Ser)
c.478C>T (p.Pro160Ser)
 dbSNP
2g.222295645G>CCA351113305PAX3c.334C>G (p.Pro112Ala)
n.715C>G
c.331C>G (p.Pro111Ala)
c.478C>G (p.Pro160Ala)
2g.222295645G=CA1330545814PAX3c.334C= (p.Pro112=)
n.715C=
c.331C= (p.Pro111=)
c.478C= (p.Pro160=)
2g.222295645G>TCA351113304PAX3c.334C>A (p.Pro112Thr)
n.715C>A
c.331C>A (p.Pro111Thr)
c.478C>A (p.Pro160Thr)
 gnomAD v4
2g.222295646C>ACA431575858PAX3c.333G>T (p.Thr111=)
n.714G>T
c.330G>T (p.Thr110=)
c.477G>T (p.Thr159=)
2g.222295646C=CA1330545815PAX3c.333G= (p.Thr111=)
n.714G=
c.330G= (p.Thr110=)
c.477G= (p.Thr159=)
2g.222295646C>GCA431575856PAX3c.333G>C (p.Thr111=)
n.714G>C
c.330G>C (p.Thr110=)
c.477G>C (p.Thr159=)
 dbSNP gnomAD v4
2g.222295646C>TCA431575857PAX3c.333G>A (p.Thr111=)
n.714G>A
c.330G>A (p.Thr110=)
c.477G>A (p.Thr159=)
 gnomAD v4
2g.222295647G>ACA351113306PAX3c.332C>T (p.Thr111Met)
n.713C>T
c.329C>T (p.Thr110Met)
c.476C>T (p.Thr159Met)
 dbSNP
2g.222295647G>CCA351113307PAX3c.332C>G (p.Thr111Arg)
n.713C>G
c.329C>G (p.Thr110Arg)
c.476C>G (p.Thr159Arg)
 gnomAD v4
2g.222295647G=CA1330545816PAX3c.332C= (p.Thr111=)
n.713C=
c.329C= (p.Thr110=)
c.476C= (p.Thr159=)
2g.222295647G>TCA2135761PAX3c.332C>A (p.Thr111Lys)
n.713C>A
c.329C>A (p.Thr110Lys)
c.476C>A (p.Thr159Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222295648T>ACA351113308PAX3c.331A>T (p.Thr111Ser)
n.712A>T
c.328A>T (p.Thr110Ser)
c.475A>T (p.Thr159Ser)
2g.222295648T>CCA351113310PAX3c.331A>G (p.Thr111Ala)
n.712A>G
c.328A>G (p.Thr110Ala)
c.475A>G (p.Thr159Ala)
2g.222295648T>GCA351113309PAX3c.331A>C (p.Thr111Pro)
n.712A>C
c.328A>C (p.Thr110Pro)
c.475A>C (p.Thr159Pro)
2g.222295649T>ACA431575860PAX3c.330A>T (p.Thr110=)
n.711A>T
c.327A>T (p.Thr109=)
c.474A>T (p.Thr158=)
2g.222295649T>CCA431575861PAX3c.330A>G (p.Thr110=)
n.711A>G
c.327A>G (p.Thr109=)
c.474A>G (p.Thr158=)
2g.222295649T>GCA431575859PAX3c.330A>C (p.Thr110=)
n.711A>C
c.327A>C (p.Thr109=)
c.474A>C (p.Thr158=)
2g.222295650G>ACA351113311PAX3c.329C>T (p.Thr110Ile)
n.710C>T
c.326C>T (p.Thr109Ile)
c.473C>T (p.Thr158Ile)
2g.222295650G>CCA351113312PAX3c.329C>G (p.Thr110Arg)
n.710C>G
c.326C>G (p.Thr109Arg)
c.473C>G (p.Thr158Arg)
2g.222295650G>TCA351113313PAX3c.329C>A (p.Thr110Lys)
n.710C>A
c.326C>A (p.Thr109Lys)
c.473C>A (p.Thr158Lys)
2g.222295651T>ACA351113314PAX3c.328A>T (p.Thr110Ser)
n.709A>T
c.325A>T (p.Thr109Ser)
c.472A>T (p.Thr158Ser)
2g.222295651T>CCA351113315PAX3c.328A>G (p.Thr110Ala)
n.709A>G
c.325A>G (p.Thr109Ala)
c.472A>G (p.Thr158Ala)
2g.222295651T>GCA351113316PAX3c.328A>C (p.Thr110Pro)
n.709A>C
c.325A>C (p.Thr109Pro)
c.472A>C (p.Thr158Pro)
2g.222295652C>ACA431575862PAX3c.327G>T (p.Val109=)
n.708G>T
c.324G>T (p.Val108=)
c.471G>T (p.Val157=)
2g.222295652C>GCA431575863PAX3c.327G>C (p.Val109=)
n.708G>C
c.324G>C (p.Val108=)
c.471G>C (p.Val157=)
2g.222295652C>TCA431575864PAX3c.327G>A (p.Val109=)
n.708G>A
c.324G>A (p.Val108=)
c.471G>A (p.Val157=)
 gnomAD v4
2g.222295653A>CCA351113317PAX3c.326T>G (p.Val109Gly)
n.707T>G
c.323T>G (p.Val108Gly)
c.470T>G (p.Val157Gly)
2g.222295653A>GCA351113318PAX3c.326T>C (p.Val109Ala)
n.707T>C
c.323T>C (p.Val108Ala)
c.470T>C (p.Val157Ala)
2g.222295653A>TCA351113319PAX3c.326T>A (p.Val109Glu)
n.707T>A
c.323T>A (p.Val108Glu)
c.470T>A (p.Val157Glu)
2g.222295654C>ACA351113320PAX3c.325G>T (p.Val109Leu)
n.706G>T
c.322G>T (p.Val108Leu)
c.469G>T (p.Val157Leu)
2g.222295654C>GCA351113321PAX3c.325G>C (p.Val109Leu)
n.706G>C
c.322G>C (p.Val108Leu)
c.469G>C (p.Val157Leu)
2g.222295654C>TCA351113322PAX3c.325G>A (p.Val109Met)
n.706G>A
c.322G>A (p.Val108Met)
c.469G>A (p.Val157Met)
2g.222295655C>ACA351113323PAX3c.324G>T (p.Gln108His)
n.705G>T
c.322-1G>T (n.322-1G>T)
c.468G>T (p.Gln156His)
2g.222295655C>GCA351113325PAX3c.324G>C (p.Gln108His)
n.705G>C
c.322-1G>C (n.322-1G>C)
c.468G>C (p.Gln156His)
2g.222295655C>TCA351113324PAX3c.324G>A (p.Gln108=)
n.705G>A
c.322-1G>A (n.322-1G>A)
c.468G>A (p.Gln156=)
2g.222295656T>ACA351113326PAX3c.323A>T (p.Gln108Leu)
n.704A>T
c.322-2A>T (n.322-2A>T)
c.467A>T (p.Gln156Leu)
2g.222295656T>CCA351113327PAX3c.323A>G (p.Gln108Arg)
n.704A>G
c.322-2A>G (n.322-2A>G)
c.467A>G (p.Gln156Arg)
2g.222295656T>GCA2135762PAX3c.323A>C (p.Gln108Pro)
n.704A>C
c.322-2A>C (n.322-2A>C)
c.467A>C (p.Gln156Pro)
 dbSNP ExAC gnomAD v2
2g.222295656T=CA1330545817PAX3c.323A= (p.Gln108=)
n.704A=
c.322-2A= (n.322-2A=)
c.467A= (p.Gln156=)
2g.222295657G>ACA351113328PAX3c.322C>T (p.Gln108Ter)
n.703C>T
c.322-3C>T (n.322-3C>T)
c.466C>T (p.Gln156Ter)
2g.222295657G>CCA351113329PAX3c.322C>G (p.Gln108Glu)
n.703C>G
c.322-3C>G (n.322-3C>G)
c.466C>G (p.Gln156Glu)
2g.222295657G>TCA351113330PAX3c.322C>A (p.Gln108Lys)
n.703C>A
c.322-3C>A (n.322-3C>A)
c.466C>A (p.Gln156Lys)
2g.222295658C>ACA351113331PAX3c.322-1G>T (n.322-1G>T)
n.703-1G>T
c.322-4G>T (n.322-4G>T)
c.466-1G>T (n.466-1G>T)
2g.222295658C>GCA351113332PAX3c.322-1G>C (n.322-1G>C)
n.703-1G>C
c.322-4G>C (n.322-4G>C)
c.466-1G>C (n.466-1G>C)
2g.222295658C>TCA351113333PAX3c.322-1G>A (n.322-1G>A)
n.703-1G>A
c.322-4G>A (n.322-4G>A)
c.466-1G>A (n.466-1G>A)
2g.222295659T>ACA351113335PAX3c.322-2A>T (n.322-2A>T)
n.703-2A>T
c.322-5A>T (n.322-5A>T)
c.466-2A>T (n.466-2A>T)
2g.222295659T>CCA351113336PAX3c.322-2A>G (n.322-2A>G)
n.703-2A>G
c.322-5A>G (n.322-5A>G)
c.466-2A>G (n.466-2A>G)
 ClinVar
2g.222295659T>GCA351113334PAX3c.322-2A>C (n.322-2A>C)
n.703-2A>C
c.322-5A>C (n.322-5A>C)
c.466-2A>C (n.466-2A>C)
2g.222295661T>CCA2663323849PAX3c.322-4A>G (n.322-4A>G)
n.703-4A>G
c.322-7A>G (n.322-7A>G)
c.466-4A>G (n.466-4A>G)
 gnomAD v4
2g.222295663A>TCA2663323850PAX3c.322-6T>A (n.322-6T>A)
n.703-6T>A
c.322-9T>A (n.322-9T>A)
c.466-6T>A (n.466-6T>A)
 gnomAD v4
2g.222295664G>ACA2663323851PAX3c.322-7C>T (n.322-7C>T)
n.703-7C>T
c.322-10C>T (n.322-10C>T)
c.466-7C>T (n.466-7C>T)
 gnomAD v4
2g.222295666G>ACA2577257579PAX3c.322-9C>T (n.322-9C>T)
n.703-9C>T
c.322-12C>T (n.322-12C>T)
c.466-9C>T (n.466-9C>T)
2g.222295667A>GCA2663323852PAX3c.322-10T>C (n.322-10T>C)
n.703-10T>C
c.322-13T>C (n.322-13T>C)
c.466-10T>C (n.466-10T>C)
 gnomAD v4
2g.222295669C=CA1330545818PAX3c.322-12G= (n.322-12G=)
n.703-12G=
c.322-15G= (n.322-15G=)
c.466-12G= (n.466-12G=)
2g.222295669C>TCA765249751PAX3c.322-12G>A (n.322-12G>A)
n.703-12G>A
c.322-15G>A (n.322-15G>A)
c.466-12G>A (n.466-12G>A)
 dbSNP gnomAD v4
2g.222295675_222295682delCA2740373082PAX3c.322-19_322-12del (n.322-19_322-12del)
n.703-19_703-12del
c.322-22_322-15del (n.322-22_322-15del)
c.466-19_466-12del (n.466-19_466-12del)
2g.222295670A=CA1330545819PAX3c.322-13T= (n.322-13T=)
n.703-13T=
c.322-16T= (n.322-16T=)
c.466-13T= (n.466-13T=)
2g.222295670A>GCA2135763PAX3c.322-13T>C (n.322-13T>C)
n.703-13T>C
c.322-16T>C (n.322-16T>C)
c.466-13T>C (n.466-13T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222295673C>ACA2135764PAX3c.322-16G>T (n.322-16G>T)
n.703-16G>T
c.322-19G>T (n.322-19G>T)
c.466-16G>T (n.466-16G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295673C=CA1330545820PAX3c.322-16G= (n.322-16G=)
n.703-16G=
c.322-19G= (n.322-19G=)
c.466-16G= (n.466-16G=)
2g.222295673C>GCA2754394794PAX3c.322-16G>C (n.322-16G>C)
n.703-16G>C
c.322-19G>C (n.322-19G>C)
c.466-16G>C (n.466-16G>C)
2g.222295673C>TCA765249764PAX3c.322-16G>A (n.322-16G>A)
n.703-16G>A
c.322-19G>A (n.322-19G>A)
c.466-16G>A (n.466-16G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.222295674G>ACA2135765PAX3c.322-17C>T (n.322-17C>T)
n.703-17C>T
c.322-20C>T (n.322-20C>T)
c.466-17C>T (n.466-17C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295674G=CA1330545821PAX3c.322-17C= (n.322-17C=)
n.703-17C=
c.322-20C= (n.322-20C=)
c.466-17C= (n.466-17C=)
2g.222295674G>TCA2754394795PAX3c.322-17C>A (n.322-17C>A)
n.703-17C>A
c.322-20C>A (n.322-20C>A)
c.466-17C>A (n.466-17C>A)
2g.222295676delCA2663323853PAX3c.322-17del (n.322-17del)
n.703-17del
c.322-20del (n.322-20del)
c.466-17del (n.466-17del)
 gnomAD v4
2g.222295675G>ACA2135766PAX3c.322-18C>T (n.322-18C>T)
n.703-18C>T
c.322-21C>T (n.322-21C>T)
c.466-18C>T (n.466-18C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295675G=CA1330545822PAX3c.322-18C= (n.322-18C=)
n.703-18C=
c.322-21C= (n.322-21C=)
c.466-18C= (n.466-18C=)
2g.222295676G>ACA2663323854PAX3c.322-19C>T (n.322-19C>T)
n.703-19C>T
c.322-22C>T (n.322-22C>T)
c.466-19C>T (n.466-19C>T)
 gnomAD v4
2g.222295676G=CA1330545823PAX3c.322-19C= (n.322-19C=)
n.703-19C=
c.322-22C= (n.322-22C=)
c.466-19C= (n.466-19C=)
2g.222295676G>TCA1330545824PAX3c.322-19C>A (n.322-19C>A)
n.703-19C>A
c.322-22C>A (n.322-22C>A)
c.466-19C>A (n.466-19C>A)
 dbSNP gnomAD v4
2g.222295677C>ACA2135767PAX3c.322-20G>T (n.322-20G>T)
n.703-20G>T
c.322-23G>T (n.322-23G>T)
c.466-20G>T (n.466-20G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295677C=CA1330545826PAX3c.322-20G= (n.322-20G=)
n.703-20G=
c.322-23G= (n.322-23G=)
c.466-20G= (n.466-20G=)
2g.222295677C>TCA1330545825PAX3c.322-20G>A (n.322-20G>A)
n.703-20G>A
c.322-23G>A (n.322-23G>A)
c.466-20G>A (n.466-20G>A)
 dbSNP
2g.222295677_222295681dupCA539496908PAX3c.322-24_322-20dup (n.322-24_322-20dup)
n.703-24_703-20dup
c.322-27_322-23dup (n.322-27_322-23dup)
c.466-24_466-20dup (n.466-24_466-20dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222295678A>GCA2663323855PAX3c.322-21T>C (n.322-21T>C)
n.703-21T>C
c.322-24T>C (n.322-24T>C)
c.466-21T>C (n.466-21T>C)
 gnomAD v4
2g.222295679G>ACA1330545828PAX3c.322-22C>T (n.322-22C>T)
n.703-22C>T
c.322-25C>T (n.322-25C>T)
c.466-22C>T (n.466-22C>T)
 dbSNP gnomAD v4
2g.222295679G>CCA2607493439PAX3c.322-22C>G (n.322-22C>G)
n.703-22C>G
c.322-25C>G (n.322-25C>G)
c.466-22C>G (n.466-22C>G)
 gnomAD v3 gnomAD v4
2g.222295679G=CA1330545827PAX3c.322-22C= (n.322-22C=)
n.703-22C=
c.322-25C= (n.322-25C=)
c.466-22C= (n.466-22C=)
2g.222295680G>ACA2135769PAX3c.322-23C>T (n.322-23C>T)
n.703-23C>T
c.322-26C>T (n.322-26C>T)
c.466-23C>T (n.466-23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295680G=CA1330545829PAX3c.322-23C= (n.322-23C=)
n.703-23C=
c.322-26C= (n.322-26C=)
c.466-23C= (n.466-23C=)
2g.222295680G>TCA2135768PAX3c.322-23C>A (n.322-23C>A)
n.703-23C>A
c.322-26C>A (n.322-26C>A)
c.466-23C>A (n.466-23C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.222295681C>ACA2663323856PAX3c.322-24G>T (n.322-24G>T)
n.703-24G>T
c.322-27G>T (n.322-27G>T)
c.466-24G>T (n.466-24G>T)
 gnomAD v4
2g.222295681C>TCA2577257580PAX3c.322-24G>A (n.322-24G>A)
n.703-24G>A
c.322-27G>A (n.322-27G>A)
c.466-24G>A (n.466-24G>A)
 gnomAD v4
2g.222295682G>ACA2577257581PAX3c.322-25C>T (n.322-25C>T)
n.703-25C>T
c.322-28C>T (n.322-28C>T)
c.466-25C>T (n.466-25C>T)
 gnomAD v4
2g.222295682G>TCA2577257582PAX3c.322-25C>A (n.322-25C>A)
n.703-25C>A
c.322-28C>A (n.322-28C>A)
c.466-25C>A (n.466-25C>A)
2g.222295685G>TCA2663323857PAX3c.322-28C>A (n.322-28C>A)
n.703-28C>A
c.322-31C>A (n.322-31C>A)
c.466-28C>A (n.466-28C>A)
 gnomAD v4
2g.222295686G>ACA2135770PAX3c.322-29C>T (n.322-29C>T)
n.703-29C>T
c.322-32C>T (n.322-32C>T)
c.466-29C>T (n.466-29C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295686G>CCA765249783PAX3c.322-29C>G (n.322-29C>G)
n.703-29C>G
c.322-32C>G (n.322-32C>G)
c.466-29C>G (n.466-29C>G)
 dbSNP
2g.222295686G=CA1330545830PAX3c.322-29C= (n.322-29C=)
n.703-29C=
c.322-32C= (n.322-32C=)
c.466-29C= (n.466-29C=)
2g.222295687T>ACA2663323858PAX3c.322-30A>T (n.322-30A>T)
n.703-30A>T
c.322-33A>T (n.322-33A>T)
c.466-30A>T (n.466-30A>T)
 gnomAD v4
2g.222295687T>CCA2663323859PAX3c.322-30A>G (n.322-30A>G)
n.703-30A>G
c.322-33A>G (n.322-33A>G)
c.466-30A>G (n.466-30A>G)
 gnomAD v4
2g.222295688A>GCA2663323860PAX3c.322-31T>C (n.322-31T>C)
n.703-31T>C
c.322-34T>C (n.322-34T>C)
c.466-31T>C (n.466-31T>C)
 gnomAD v4
2g.222295689C>ACA765249784PAX3c.322-32G>T (n.322-32G>T)
n.703-32G>T
c.322-35G>T (n.322-35G>T)
c.466-32G>T (n.466-32G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.222295689C=CA1330545831PAX3c.322-32G= (n.322-32G=)
n.703-32G=
c.322-35G= (n.322-35G=)
c.466-32G= (n.466-32G=)
2g.222295689C>GCA2663323861PAX3c.322-32G>C (n.322-32G>C)
n.703-32G>C
c.322-35G>C (n.322-35G>C)
c.466-32G>C (n.466-32G>C)
 gnomAD v4
2g.222295689C>TCA2663323862PAX3c.322-32G>A (n.322-32G>A)
n.703-32G>A
c.322-35G>A (n.322-35G>A)
c.466-32G>A (n.466-32G>A)
 gnomAD v4
2g.222295690C=CA1330545832PAX3c.322-33G= (n.322-33G=)
n.703-33G=
c.322-36G= (n.322-36G=)
c.466-33G= (n.466-33G=)
2g.222295690C>TCA2135771PAX3c.322-33G>A (n.322-33G>A)
n.703-33G>A
c.322-36G>A (n.322-36G>A)
c.466-33G>A (n.466-33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.222295692G>ACA539496915PAX3c.322-35C>T (n.322-35C>T)
n.703-35C>T
c.322-38C>T (n.322-38C>T)
c.466-35C>T (n.466-35C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.222295692G>CCA66340501PAX3c.322-35C>G (n.322-35C>G)
n.703-35C>G
c.322-38C>G (n.322-38C>G)
c.466-35C>G (n.466-35C>G)
 dbSNP gnomAD v4
2g.222295692G=CA1330545833PAX3c.322-35C= (n.322-35C=)
n.703-35C=
c.322-38C= (n.322-38C=)
c.466-35C= (n.466-35C=)
2g.222295693G>ACA765249789PAX3c.322-36C>T (n.322-36C>T)
n.703-36C>T
c.322-39C>T (n.322-39C>T)
c.466-36C>T (n.466-36C>T)
 dbSNP gnomAD v4
2g.222295693G>CCA539496918PAX3c.322-36C>G (n.322-36C>G)
n.703-36C>G
c.322-39C>G (n.322-39C>G)
c.466-36C>G (n.466-36C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.222295693G=CA1330545834PAX3c.322-36C= (n.322-36C=)
n.703-36C=
c.322-39C= (n.322-39C=)
c.466-36C= (n.466-36C=)
2g.222295695A=CA1330545835PAX3c.322-38T= (n.322-38T=)
n.703-38T=
c.322-41T= (n.322-41T=)
c.466-38T= (n.466-38T=)
2g.222295695A>CCA647673656PAX3c.322-38T>G (n.322-38T>G)
n.703-38T>G
c.322-41T>G (n.322-41T>G)
c.466-38T>G (n.466-38T>G)
 dbSNP COSMIC
2g.222295696C>ACA2663323863PAX3c.322-39G>T (n.322-39G>T)
n.703-39G>T
c.322-42G>T (n.322-42G>T)
c.466-39G>T (n.466-39G>T)
 gnomAD v4
2g.222295696C>TCA2663323864PAX3c.322-39G>A (n.322-39G>A)
n.703-39G>A
c.322-42G>A (n.322-42G>A)
c.466-39G>A (n.466-39G>A)
 gnomAD v4
2g.222295697C>ACA2663323865PAX3c.322-40G>T (n.322-40G>T)
n.703-40G>T
c.322-43G>T (n.322-43G>T)
c.466-40G>T (n.466-40G>T)
 gnomAD v4
2g.222295697C=CA1330545836PAX3c.322-40G= (n.322-40G=)
n.703-40G=
c.322-43G= (n.322-43G=)
c.466-40G= (n.466-40G=)
2g.222295697C>TCA1042702065PAX3c.322-40G>A (n.322-40G>A)
n.703-40G>A
c.322-43G>A (n.322-43G>A)
c.466-40G>A (n.466-40G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.222295698C>TCA2663323866PAX3c.322-41G>A (n.322-41G>A)
n.703-41G>A
c.322-44G>A (n.322-44G>A)
c.466-41G>A (n.466-41G>A)
 gnomAD v4

Number of alleles fetched