Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.222297163del | CA2586971553 | PAX3 | c.136del (p.Ile46SerfsTer?) n.517del c.280del (p.Ile94SerfsTer?) | |
2 | g.222297163T>A | CA351113748 | PAX3 | c.136A>T (p.Ile46Phe) n.517A>T c.280A>T (p.Ile94Phe) | |
2 | g.222297163T>C | CA351113746 | PAX3 | c.136A>G (p.Ile46Val) n.517A>G c.280A>G (p.Ile94Val) | dbSNP gnomAD v4 |
2 | g.222297163T>G | CA351113747 | PAX3 | c.136A>C (p.Ile46Leu) n.517A>C c.280A>C (p.Ile94Leu) | |
2 | g.222297163T= | CA1330546566 | PAX3 | c.136A= (p.Ile46=) n.517A= c.280A= (p.Ile94=) | |
2 | g.222297163dup | CA658821476 | PAX3 | c.136dup (p.Ile46AsnfsTer?) n.517dup c.280dup (p.Ile94AsnfsTer?) | ClinVar dbSNP |
2 | g.222297164A= | CA1330546567 | PAX3 | c.135T= (p.Phe45=) n.516T= c.279T= (p.Phe93=) | |
2 | g.222297164A>C | CA351113749 | PAX3 | c.135T>G (p.Phe45Leu) n.516T>G c.279T>G (p.Phe93Leu) | |
2 | g.222297164A>G | CA431576000 | PAX3 | c.135T>C (p.Phe45=) n.516T>C c.279T>C (p.Phe93=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297164A>T | CA351113750 | PAX3 | c.135T>A (p.Phe45Leu) n.516T>A c.279T>A (p.Phe93Leu) | |
2 | g.222297168dup | CA2663324106 | PAX3 | c.135dup (p.Ile46TyrfsTer?) n.516dup c.279dup (p.Ile94TyrfsTer?) | gnomAD v4 |
2 | g.222297168del | CA2663324107 | PAX3 | c.135del (p.Phe45LeufsTer?) n.516del c.279del (p.Phe93LeufsTer?) | gnomAD v4 |
2 | g.222297165A>C | CA351113751 | PAX3 | c.134T>G (p.Phe45Cys) n.515T>G c.278T>G (p.Phe93Cys) | |
2 | g.222297165A>G | CA351113752 | PAX3 | c.134T>C (p.Phe45Ser) n.515T>C c.278T>C (p.Phe93Ser) | |
2 | g.222297165A>T | CA351113753 | PAX3 | c.134T>A (p.Phe45Tyr) n.515T>A c.278T>A (p.Phe93Tyr) | |
2 | g.222297166A>C | CA351113754 | PAX3 | c.133T>G (p.Phe45Val) n.514T>G c.277T>G (p.Phe93Val) | |
2 | g.222297166A>G | CA351113755 | PAX3 | c.133T>C (p.Phe45Leu) n.514T>C c.277T>C (p.Phe93Leu) | |
2 | g.222297166A>T | CA351113756 | PAX3 | c.133T>A (p.Phe45Ile) n.514T>A c.277T>A (p.Phe93Ile) | |
2 | g.222297167A>C | CA431576003 | PAX3 | c.132T>G (p.Val44=) n.513T>G c.276T>G (p.Val92=) | |
2 | g.222297167A>G | CA431576002 | PAX3 | c.132T>C (p.Val44=) n.513T>C c.276T>C (p.Val92=) | |
2 | g.222297167A>T | CA431576001 | PAX3 | c.132T>A (p.Val44=) n.513T>A c.276T>A (p.Val92=) | |
2 | g.222297168A>C | CA351113757 | PAX3 | c.131T>G (p.Val44Gly) n.512T>G c.275T>G (p.Val92Gly) | |
2 | g.222297168A>G | CA351113758 | PAX3 | c.131T>C (p.Val44Ala) n.512T>C c.275T>C (p.Val92Ala) | COSMIC |
2 | g.222297168A>T | CA351113759 | PAX3 | c.131T>A (p.Val44Asp) n.512T>A c.275T>A (p.Val92Asp) | |
2 | g.222297169C>A | CA351113760 | PAX3 | c.130G>T (p.Val44Phe) n.511G>T c.274G>T (p.Val92Phe) | gnomAD v4 |
2 | g.222297169C>G | CA351113761 | PAX3 | c.130G>C (p.Val44Leu) n.511G>C c.274G>C (p.Val92Leu) | |
2 | g.222297169C>T | CA351113762 | PAX3 | c.130G>A (p.Val44Ile) n.511G>A c.274G>A (p.Val92Ile) | gnomAD v4 |
2 | g.222297170_222297172del | CA2586971554 | PAX3 | c.128_130del (p.Gly43del) n.509_511del c.272_274del (p.Gly91del) | |
2 | g.222297170A= | CA1330546568 | PAX3 | c.129T= (p.Gly43=) n.510T= c.273T= (p.Gly91=) | |
2 | g.222297170A>C | CA431576004 | PAX3 | c.129T>G (p.Gly43=) n.510T>G c.273T>G (p.Gly91=) | gnomAD v4 |
2 | g.222297170A>G | CA201739 | PAX3 | c.129T>C (p.Gly43=) n.510T>C c.273T>C (p.Gly91=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222297170A>T | CA431576005 | PAX3 | c.129T>A (p.Gly43=) n.510T>A c.273T>A (p.Gly91=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297171C>A | CA351113763 | PAX3 | c.128G>T (p.Gly43Val) n.509G>T c.272G>T (p.Gly91Val) | |
2 | g.222297171C>G | CA351113765 | PAX3 | c.128G>C (p.Gly43Ala) n.509G>C c.272G>C (p.Gly91Ala) | |
2 | g.222297171C>T | CA351113764 | PAX3 | c.128G>A (p.Gly43Asp) n.509G>A c.272G>A (p.Gly91Asp) | gnomAD v4 |
2 | g.222297172C>A | CA351113766 | PAX3 | c.127G>T (p.Gly43Cys) n.508G>T c.271G>T (p.Gly91Cys) | ClinVar dbSNP |
2 | g.222297172C= | CA1330546569 | PAX3 | c.127G= (p.Gly43=) n.508G= c.271G= (p.Gly91=) | |
2 | g.222297172C>G | CA351113767 | PAX3 | c.127G>C (p.Gly43Arg) n.508G>C c.271G>C (p.Gly91Arg) | gnomAD v4 |
2 | g.222297172C>T | CA351113768 | PAX3 | c.127G>A (p.Gly43Ser) n.508G>A c.271G>A (p.Gly91Ser) | ClinVar |
2 | g.222297173G>A | CA431576006 | PAX3 | c.126C>T (p.Gly42=) n.507C>T c.270C>T (p.Gly90=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.222297173G>C | CA431576007 | PAX3 | c.126C>G (p.Gly42=) n.507C>G c.270C>G (p.Gly90=) | |
2 | g.222297173G= | CA1330546570 | PAX3 | c.126C= (p.Gly42=) n.507C= c.270C= (p.Gly90=) | |
2 | g.222297173G>T | CA2135798 | PAX3 | c.126C>A (p.Gly42=) n.507C>A c.270C>A (p.Gly90=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222297174C>A | CA351113769 | PAX3 | c.125G>T (p.Gly42Val) n.506G>T c.269G>T (p.Gly90Val) | |
2 | g.222297174C>G | CA351113770 | PAX3 | c.125G>C (p.Gly42Ala) n.506G>C c.269G>C (p.Gly90Ala) | |
2 | g.222297174C>T | CA351113771 | PAX3 | c.125G>A (p.Gly42Asp) n.506G>A c.269G>A (p.Gly90Asp) | gnomAD v4 |
2 | g.222297175C>A | CA2135799 | PAX3 | c.124G>T (p.Gly42Cys) n.505G>T c.268G>T (p.Gly90Cys) | dbSNP ExAC gnomAD v4 |
2 | g.222297175C= | CA1330546571 | PAX3 | c.124G= (p.Gly42=) n.505G= c.268G= (p.Gly90=) | |
2 | g.222297175C>G | CA351113772 | PAX3 | c.124G>C (p.Gly42Arg) n.505G>C c.268G>C (p.Gly90Arg) | ClinVar dbSNP gnomAD v4 |
2 | g.222297175C>T | CA351113773 | PAX3 | c.124G>A (p.Gly42Ser) n.505G>A c.268G>A (p.Gly90Ser) | gnomAD v4 |
2 | g.222297176del | CA2499215690 | PAX3 | c.123del (p.Gly42AlafsTer?) n.504del c.267del (p.Gly90AlafsTer?) | ClinVar dbSNP |
2 | g.222297176G>A | CA431576008 | PAX3 | c.123C>T (p.Leu41=) n.504C>T c.267C>T (p.Leu89=) | gnomAD v4 |
2 | g.222297176G>C | CA431576009 | PAX3 | c.123C>G (p.Leu41=) n.504C>G c.267C>G (p.Leu89=) | |
2 | g.222297176G= | CA1330546572 | PAX3 | c.123C= (p.Leu41=) n.504C= c.267C= (p.Leu89=) | |
2 | g.222297176G>T | CA66340695 | PAX3 | c.123C>A (p.Leu41=) n.504C>A c.267C>A (p.Leu89=) | dbSNP |
2 | g.222297177A= | CA1330546573 | PAX3 | c.122T= (p.Leu41=) n.503T= c.266T= (p.Leu89=) | |
2 | g.222297177A>C | CA351113776 | PAX3 | c.122T>G (p.Leu41Arg) n.503T>G c.266T>G (p.Leu89Arg) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297177A>G | CA351113775 | PAX3 | c.122T>C (p.Leu41Pro) n.503T>C c.266T>C (p.Leu89Pro) | |
2 | g.222297177A>T | CA351113774 | PAX3 | c.122T>A (p.Leu41His) n.503T>A c.266T>A (p.Leu89His) | |
2 | g.222297178G>A | CA351113779 | PAX3 | c.121C>T (p.Leu41Phe) n.502C>T c.265C>T (p.Leu89Phe) | |
2 | g.222297178G>C | CA351113777 | PAX3 | c.121C>G (p.Leu41Val) n.502C>G c.265C>G (p.Leu89Val) | |
2 | g.222297178G>T | CA351113778 | PAX3 | c.121C>A (p.Leu41Ile) n.502C>A c.265C>A (p.Leu89Ile) | gnomAD v4 |
2 | g.222297179C>A | CA351113780 | PAX3 | c.120G>T (p.Gln40His) n.501G>T c.264G>T (p.Gln88His) | |
2 | g.222297179C= | CA1330546574 | PAX3 | c.120G= (p.Gln40=) n.501G= c.264G= (p.Gln88=) | |
2 | g.222297179C>G | CA351113781 | PAX3 | c.120G>C (p.Gln40His) n.501G>C c.264G>C (p.Gln88His) | |
2 | g.222297179C>T | CA431576010 | PAX3 | c.120G>A (p.Gln40=) n.501G>A c.264G>A (p.Gln88=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297180T>A | CA351113782 | PAX3 | c.119A>T (p.Gln40Leu) n.500A>T c.263A>T (p.Gln88Leu) | |
2 | g.222297180T>C | CA351113783 | PAX3 | c.119A>G (p.Gln40Arg) n.500A>G c.263A>G (p.Gln88Arg) | |
2 | g.222297180T>G | CA351113784 | PAX3 | c.119A>C (p.Gln40Pro) n.500A>C c.263A>C (p.Gln88Pro) | |
2 | g.222297181G>A | CA351113785 | PAX3 | c.118C>T (p.Gln40Ter) n.499C>T c.262C>T (p.Gln88Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297181G>C | CA351113786 | PAX3 | c.118C>G (p.Gln40Glu) n.499C>G c.262C>G (p.Gln88Glu) | |
2 | g.222297181G= | CA1330546575 | PAX3 | c.118C= (p.Gln40=) n.499C= c.262C= (p.Gln88=) | |
2 | g.222297181G>T | CA351113787 | PAX3 | c.118C>A (p.Gln40Lys) n.499C>A c.262C>A (p.Gln88Lys) | ClinVar |
2 | g.222297182G>A | CA431576011 | PAX3 | c.117C>T (p.Asn39=) n.498C>T c.261C>T (p.Asn87=) | |
2 | g.222297182G>C | CA351113788 | PAX3 | c.117C>G (p.Asn39Lys) n.498C>G c.261C>G (p.Asn87Lys) | dbSNP |
2 | g.222297182G= | CA1330546576 | PAX3 | c.117C= (p.Asn39=) n.498C= c.261C= (p.Asn87=) | |
2 | g.222297182G>T | CA351113789 | PAX3 | c.117C>A (p.Asn39Lys) n.498C>A c.261C>A (p.Asn87Lys) | |
2 | g.222297183T>A | CA351113792 | PAX3 | c.116A>T (p.Asn39Ile) n.497A>T c.260A>T (p.Asn87Ile) | |
2 | g.222297183T>C | CA351113791 | PAX3 | c.116A>G (p.Asn39Ser) n.497A>G c.260A>G (p.Asn87Ser) | ClinVar |
2 | g.222297183T>G | CA351113790 | PAX3 | c.116A>C (p.Asn39Thr) n.497A>C c.260A>C (p.Asn87Thr) | |
2 | g.222297184T>A | CA351113793 | PAX3 | c.115A>T (p.Asn39Tyr) n.496A>T c.259A>T (p.Asn87Tyr) | |
2 | g.222297184T>C | CA351113794 | PAX3 | c.115A>G (p.Asn39Asp) n.496A>G c.259A>G (p.Asn87Asp) | |
2 | g.222297184T>G | CA351113795 | PAX3 | c.115A>C (p.Asn39His) n.496A>C c.259A>C (p.Asn87His) | |
2 | g.222297185G>A | CA431576013 | PAX3 | c.114C>T (p.Val38=) n.495C>T c.258C>T (p.Val86=) | |
2 | g.222297185G>C | CA431576014 | PAX3 | c.114C>G (p.Val38=) n.495C>G c.258C>G (p.Val86=) | |
2 | g.222297185G>T | CA431576012 | PAX3 | c.114C>A (p.Val38=) n.495C>A c.258C>A (p.Val86=) | |
2 | g.222297186A>C | CA351113796 | PAX3 | c.113T>G (p.Val38Gly) n.494T>G c.257T>G (p.Val86Gly) | |
2 | g.222297186A>G | CA351113797 | PAX3 | c.113T>C (p.Val38Ala) n.494T>C c.257T>C (p.Val86Ala) | gnomAD v4 |
2 | g.222297186A>T | CA351113798 | PAX3 | c.113T>A (p.Val38Asp) n.494T>A c.257T>A (p.Val86Asp) | |
2 | g.222297187C>A | CA351113799 | PAX3 | c.112G>T (p.Val38Phe) n.493G>T c.256G>T (p.Val86Phe) | gnomAD v4 |
2 | g.222297187C>G | CA351113800 | PAX3 | c.112G>C (p.Val38Leu) n.493G>C c.256G>C (p.Val86Leu) | |
2 | g.222297187C>T | CA351113801 | PAX3 | c.112G>A (p.Val38Ile) n.493G>A c.256G>A (p.Val86Ile) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.222297188G>A | CA431576015 | PAX3 | c.111C>T (p.Arg37=) n.492C>T c.255C>T (p.Arg85=) | dbSNP gnomAD v4 |
2 | g.222297188G>C | CA2135800 | PAX3 | c.111C>G (p.Arg37=) n.492C>G c.255C>G (p.Arg85=) | dbSNP ExAC gnomAD v2 |
2 | g.222297188G= | CA1330546577 | PAX3 | c.111C= (p.Arg37=) n.492C= c.255C= (p.Arg85=) | |
2 | g.222297188G>T | CA431576016 | PAX3 | c.111C>A (p.Arg37=) n.492C>A c.255C>A (p.Arg85=) | dbSNP gnomAD v2 |
2 | g.222297188dup | CA2586971555 | PAX3 | c.111dup (p.Val38ArgfsTer?) n.492dup c.255dup (p.Val86ArgfsTer?) | |
2 | g.222297189C>A | CA351113802 | PAX3 | c.110G>T (p.Arg37Leu) n.491G>T c.254G>T (p.Arg85Leu) | gnomAD v4 |
2 | g.222297189C= | CA1330546578 | PAX3 | c.110G= (p.Arg37=) n.491G= c.254G= (p.Arg85=) | |
2 | g.222297189C>G | CA351113803 | PAX3 | c.110G>C (p.Arg37Pro) n.491G>C c.254G>C (p.Arg85Pro) | |
2 | g.222297189C>T | CA351113804 | PAX3 | c.110G>A (p.Arg37His) n.491G>A c.254G>A (p.Arg85His) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.222297190G>A | CA351113806 | PAX3 | c.109C>T (p.Arg37Cys) n.490C>T c.253C>T (p.Arg85Cys) | |
2 | g.222297190G>C | CA351113807 | PAX3 | c.109C>G (p.Arg37Gly) n.490C>G c.253C>G (p.Arg85Gly) | |
2 | g.222297190G>T | CA351113805 | PAX3 | c.109C>A (p.Arg37Ser) n.490C>A c.253C>A (p.Arg85Ser) | gnomAD v4 |
2 | g.222297191G>A | CA431576017 | PAX3 | c.108C>T (p.Gly36=) n.489C>T c.252C>T (p.Gly84=) | gnomAD v4 |
2 | g.222297191G>C | CA431576018 | PAX3 | c.108C>G (p.Gly36=) n.489C>G c.252C>G (p.Gly84=) | |
2 | g.222297191G>T | CA431576019 | PAX3 | c.108C>A (p.Gly36=) n.489C>A c.252C>A (p.Gly84=) | gnomAD v4 |
2 | g.222297192C>A | CA351113808 | PAX3 | c.107G>T (p.Gly36Val) n.488G>T c.251G>T (p.Gly84Val) | gnomAD v4 |
2 | g.222297192C>G | CA351113810 | PAX3 | c.107G>C (p.Gly36Ala) n.488G>C c.251G>C (p.Gly84Ala) | |
2 | g.222297192C>T | CA351113809 | PAX3 | c.107G>A (p.Gly36Asp) n.488G>A c.251G>A (p.Gly84Asp) | gnomAD v4 |
2 | g.222297193C>A | CA351113811 | PAX3 | c.106G>T (p.Gly36Cys) n.487G>T c.250G>T (p.Gly84Cys) | |
2 | g.222297193C>G | CA351113813 | PAX3 | c.106G>C (p.Gly36Arg) n.487G>C c.250G>C (p.Gly84Arg) | |
2 | g.222297193C>T | CA351113812 | PAX3 | c.106G>A (p.Gly36Ser) n.487G>A c.250G>A (p.Gly84Ser) | |
2 | g.222297194C>A | CA351113814 | PAX3 | c.105G>T (p.Gln35His) n.486G>T c.249G>T (p.Gln83His) | gnomAD v4 |
2 | g.222297194C= | CA1330546579 | PAX3 | c.105G= (p.Gln35=) n.486G= c.249G= (p.Gln83=) | |
2 | g.222297194C>G | CA351113815 | PAX3 | c.105G>C (p.Gln35His) n.486G>C c.249G>C (p.Gln83His) | |
2 | g.222297194C>T | CA2135801 | PAX3 | c.105G>A (p.Gln35=) n.486G>A c.249G>A (p.Gln83=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222297195T>A | CA351113816 | PAX3 | c.104A>T (p.Gln35Leu) n.485A>T c.248A>T (p.Gln83Leu) | gnomAD v4 |
2 | g.222297195T>C | CA351113817 | PAX3 | c.104A>G (p.Gln35Arg) n.485A>G c.248A>G (p.Gln83Arg) | gnomAD v4 |
2 | g.222297195T>G | CA351113818 | PAX3 | c.104A>C (p.Gln35Pro) n.485A>C c.248A>C (p.Gln83Pro) | |
2 | g.222297196G>A | CA351113819 | PAX3 | c.103C>T (p.Gln35Ter) n.484C>T c.247C>T (p.Gln83Ter) | |
2 | g.222297196G>C | CA351113820 | PAX3 | c.103C>G (p.Gln35Glu) n.484C>G c.247C>G (p.Gln83Glu) | |
2 | g.222297196G>T | CA351113821 | PAX3 | c.103C>A (p.Gln35Lys) n.484C>A c.247C>A (p.Gln83Lys) | |
2 | g.222297197G>A | CA431576020 | PAX3 | c.102C>T (p.Gly34=) n.483C>T c.246C>T (p.Gly82=) | gnomAD v4 |
2 | g.222297197G>C | CA431576021 | PAX3 | c.102C>G (p.Gly34=) n.483C>G c.246C>G (p.Gly82=) | |
2 | g.222297197G>T | CA431576022 | PAX3 | c.102C>A (p.Gly34=) n.483C>A c.246C>A (p.Gly82=) | |
2 | g.222297198C>A | CA351113822 | PAX3 | c.101G>T (p.Gly34Val) n.482G>T c.245G>T (p.Gly82Val) | |
2 | g.222297198C>G | CA351113823 | PAX3 | c.101G>C (p.Gly34Ala) n.482G>C c.245G>C (p.Gly82Ala) | |
2 | g.222297198C>T | CA351113824 | PAX3 | c.101G>A (p.Gly34Asp) n.482G>A c.245G>A (p.Gly82Asp) | gnomAD v4 |
2 | g.222297199dup | CA2586971556 | PAX3 | c.101dup (p.Gln35ProfsTer?) n.482dup c.245dup (p.Gln83ProfsTer?) | |
2 | g.222297199C>A | CA2135802 | PAX3 | c.100G>T (p.Gly34Cys) n.481G>T c.244G>T (p.Gly82Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222297199C= | CA1330546580 | PAX3 | c.100G= (p.Gly34=) n.481G= c.244G= (p.Gly82=) | |
2 | g.222297199C>G | CA2135803 | PAX3 | c.100G>C (p.Gly34Arg) n.481G>C c.244G>C (p.Gly82Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222297199C>T | CA351113825 | PAX3 | c.100G>A (p.Gly34Ser) n.481G>A c.244G>A (p.Gly82Ser) | gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
2 | g.222297200G>A | CA2135804 | PAX3 | c.99C>T (p.Leu33=) n.480C>T c.243C>T (p.Leu81=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222297200G>C | CA431576023 | PAX3 | c.99C>G (p.Leu33=) n.480C>G c.243C>G (p.Leu81=) | |
2 | g.222297200G= | CA1330546581 | PAX3 | c.99C= (p.Leu33=) n.480C= c.243C= (p.Leu81=) | |
2 | g.222297200G>T | CA431576024 | PAX3 | c.99C>A (p.Leu33=) n.480C>A c.243C>A (p.Leu81=) | gnomAD v4 |
2 | g.222297201A>C | CA351113826 | PAX3 | c.98T>G (p.Leu33Arg) n.479T>G c.242T>G (p.Leu81Arg) | |
2 | g.222297201A>G | CA351113827 | PAX3 | c.98T>C (p.Leu33Pro) n.479T>C c.242T>C (p.Leu81Pro) | |
2 | g.222297201A>T | CA351113828 | PAX3 | c.98T>A (p.Leu33His) n.479T>A c.242T>A (p.Leu81His) | |
2 | g.222297202G>A | CA351113829 | PAX3 | c.97C>T (p.Leu33Phe) n.478C>T c.241C>T (p.Leu81Phe) | gnomAD v4 |
2 | g.222297202G>C | CA351113830 | PAX3 | c.97C>G (p.Leu33Val) n.478C>G c.241C>G (p.Leu81Val) | |
2 | g.222297202G>T | CA351113831 | PAX3 | c.97C>A (p.Leu33Ile) n.478C>A c.241C>A (p.Leu81Ile) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222297205dup | CA2586971557 | PAX3 | c.97dup (p.Leu33ProfsTer?) n.478dup c.241dup (p.Leu81ProfsTer?) | |
2 | g.222297203G>A | CA431576027 | PAX3 | c.96C>T (p.Pro32=) n.477C>T c.240C>T (p.Pro80=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222297203G>C | CA431576025 | PAX3 | c.96C>G (p.Pro32=) n.477C>G c.240C>G (p.Pro80=) | |
2 | g.222297203G= | CA1330546582 | PAX3 | c.96C= (p.Pro32=) n.477C= c.240C= (p.Pro80=) | |
2 | g.222297203G>T | CA431576026 | PAX3 | c.96C>A (p.Pro32=) n.477C>A c.240C>A (p.Pro80=) | gnomAD v4 |
2 | g.222297203_222297204insCCAAAGAGTTCGAGAAGTTGTGCCGTATGAACAACCGCTACAATACA | CA2754394823 | PAX3 | c.95_96insTGTATTGTAGCGGTTGTTCATACGGCACAACTTCTCGAACTCTTTGG (p.Leu33ValfsTer3) n.476_477insTGTATTGTAGCGGTTGTTCATACGGCACAACTTCTCGAACTCTTTGG c.239_240insTGTATTGTAGCGGTTGTTCATACGGCACAACTTCTCGAACTCTTTGG (p.Leu81ValfsTer3) | |
2 | g.222297204G>A | CA351113832 | PAX3 | c.95C>T (p.Pro32Leu) n.476C>T c.239C>T (p.Pro80Leu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297204G>C | CA351113833 | PAX3 | c.95C>G (p.Pro32Arg) n.476C>G c.239C>G (p.Pro80Arg) | |
2 | g.222297204G= | CA1330546583 | PAX3 | c.95C= (p.Pro32=) n.476C= c.239C= (p.Pro80=) | |
2 | g.222297204G>T | CA351113834 | PAX3 | c.95C>A (p.Pro32His) n.476C>A c.239C>A (p.Pro80His) | gnomAD v4 |
2 | g.222297207_222297211del | CA891834506 | PAX3 | c.91_95del (p.Thr31ProfsTer?) n.472_476del c.235_239del (p.Thr79ProfsTer?) | |
2 | g.222297205G>A | CA351113836 | PAX3 | c.94C>T (p.Pro32Ser) n.475C>T c.238C>T (p.Pro80Ser) | dbSNP gnomAD v2 |
2 | g.222297205G>C | CA2135805 | PAX3 | c.94C>G (p.Pro32Ala) n.475C>G c.238C>G (p.Pro80Ala) | dbSNP ExAC gnomAD v2 |
2 | g.222297205G= | CA1330546584 | PAX3 | c.94C= (p.Pro32=) n.475C= c.238C= (p.Pro80=) | |
2 | g.222297205G>T | CA351113835 | PAX3 | c.94C>A (p.Pro32Thr) n.475C>A c.238C>A (p.Pro80Thr) | gnomAD v4 |
2 | g.222297205_222297206insCTGGGGCTGCGACGTGCGCGGGCAGTTATTGGTCGCCACGC | CA2754394824 | PAX3 | c.93_94insGCGTGGCGACCAATAACTGCCCGCGCACGTCGCAGCCCCAG (p.Pro32AlafsTer?) n.474_475insGCGTGGCGACCAATAACTGCCCGCGCACGTCGCAGCCCCAG c.237_238insGCGTGGCGACCAATAACTGCCCGCGCACGTCGCAGCCCCAG (p.Pro80AlafsTer?) | |
2 | g.222297206A>C | CA431576028 | PAX3 | c.93T>G (p.Thr31=) n.474T>G c.237T>G (p.Thr79=) | |
2 | g.222297206A>G | CA431576029 | PAX3 | c.93T>C (p.Thr31=) n.474T>C c.237T>C (p.Thr79=) | |
2 | g.222297206A>T | CA431576030 | PAX3 | c.93T>A (p.Thr31=) n.474T>A c.237T>A (p.Thr79=) | |
2 | g.222297207G>A | CA351113837 | PAX3 | c.92C>T (p.Thr31Ile) n.473C>T c.236C>T (p.Thr79Ile) | |
2 | g.222297207G>C | CA2135806 | PAX3 | c.92C>G (p.Thr31Ser) n.473C>G c.236C>G (p.Thr79Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222297207G= | CA1330546585 | PAX3 | c.92C= (p.Thr31=) n.473C= c.236C= (p.Thr79=) | |
2 | g.222297207G>T | CA351113838 | PAX3 | c.92C>A (p.Thr31Asn) n.473C>A c.236C>A (p.Thr79Asn) | gnomAD v4 |
2 | g.222297208T>A | CA351113839 | PAX3 | c.91A>T (p.Thr31Ser) n.472A>T c.235A>T (p.Thr79Ser) | |
2 | g.222297208T>C | CA2135807 | PAX3 | c.91A>G (p.Thr31Ala) n.472A>G c.235A>G (p.Thr79Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222297208T>G | CA351113840 | PAX3 | c.91A>C (p.Thr31Pro) n.472A>C c.235A>C (p.Thr79Pro) | ClinVar |
2 | g.222297208T= | CA1330546586 | PAX3 | c.91A= (p.Thr31=) n.472A= c.235A= (p.Thr79=) | |
2 | g.222297209G>A | CA431576031 | PAX3 | c.90C>T (p.Ser30=) n.471C>T c.234C>T (p.Ser78=) | |
2 | g.222297209G>C | CA431576033 | PAX3 | c.90C>G (p.Ser30=) n.471C>G c.234C>G (p.Ser78=) | |
2 | g.222297209G>T | CA431576032 | PAX3 | c.90C>A (p.Ser30=) n.471C>A c.234C>A (p.Ser78=) | gnomAD v4 |
2 | g.222297210G>A | CA351113841 | PAX3 | c.89C>T (p.Ser30Phe) n.470C>T c.233C>T (p.Ser78Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222297210G>C | CA351113842 | PAX3 | c.89C>G (p.Ser30Cys) n.470C>G c.233C>G (p.Ser78Cys) | |
2 | g.222297210G= | CA1330546587 | PAX3 | c.89C= (p.Ser30=) n.470C= c.233C= (p.Ser78=) | |
2 | g.222297210G>T | CA351113843 | PAX3 | c.89C>A (p.Ser30Tyr) n.470C>A c.233C>A (p.Ser78Tyr) | gnomAD v4 |
2 | g.222297211A>C | CA351113844 | PAX3 | c.88T>G (p.Ser30Ala) n.469T>G c.232T>G (p.Ser78Ala) | |
2 | g.222297211A>G | CA351113845 | PAX3 | c.88T>C (p.Ser30Pro) n.469T>C c.232T>C (p.Ser78Pro) | |
2 | g.222297211A>T | CA351113846 | PAX3 | c.88T>A (p.Ser30Thr) n.469T>A c.232T>A (p.Ser78Thr) | |
2 | g.222297212C>A | CA431576034 | PAX3 | c.87G>T (p.Val29=) n.468G>T c.231G>T (p.Val77=) | gnomAD v4 |
2 | g.222297212C>G | CA431576035 | PAX3 | c.87G>C (p.Val29=) n.468G>C c.231G>C (p.Val77=) | |
2 | g.222297212C>T | CA431576036 | PAX3 | c.87G>A (p.Val29=) n.468G>A c.231G>A (p.Val77=) | |
2 | g.222297213A>C | CA351113849 | PAX3 | c.86T>G (p.Val29Gly) n.467T>G c.230T>G (p.Val77Gly) | gnomAD v4 |
2 | g.222297213A>G | CA351113848 | PAX3 | c.86T>C (p.Val29Ala) n.467T>C c.230T>C (p.Val77Ala) | gnomAD v4 |
2 | g.222297213A>T | CA351113847 | PAX3 | c.86T>A (p.Val29Glu) n.467T>A c.230T>A (p.Val77Glu) | |
2 | g.222297214C>A | CA351113850 | PAX3 | c.86-1G>T (n.86-1G>T) n.467-1G>T c.230-1G>T (n.230-1G>T) | |
2 | g.222297214C>G | CA351113851 | PAX3 | c.86-1G>C (n.86-1G>C) n.467-1G>C c.230-1G>C (n.230-1G>C) | |
2 | g.222297214C>T | CA351113852 | PAX3 | c.86-1G>A (n.86-1G>A) n.467-1G>A c.230-1G>A (n.230-1G>A) | |
2 | g.222297215T>A | CA351113853 | PAX3 | c.86-2A>T (n.86-2A>T) n.467-2A>T c.230-2A>T (n.230-2A>T) | gnomAD v4 |
2 | g.222297215T>C | CA351113854 | PAX3 | c.86-2A>G (n.86-2A>G) n.467-2A>G c.230-2A>G (n.230-2A>G) | ClinVar dbSNP |
2 | g.222297215T>G | CA351113855 | PAX3 | c.86-2A>C (n.86-2A>C) n.467-2A>C c.230-2A>C (n.230-2A>C) | |
2 | g.222297215T= | CA1330546588 | PAX3 | c.86-2A= (n.86-2A=) n.467-2A= c.230-2A= (n.230-2A=) | |
2 | g.222297216G>A | CA2663324108 | PAX3 | c.86-3C>T (n.86-3C>T) n.467-3C>T c.230-3C>T (n.230-3C>T) | gnomAD v4 |
2 | g.222297216G= | CA1330546589 | PAX3 | c.86-3C= (n.86-3C=) n.467-3C= c.230-3C= (n.230-3C=) | |
2 | g.222297216G>T | CA1330546590 | PAX3 | c.86-3C>A (n.86-3C>A) n.467-3C>A c.230-3C>A (n.230-3C>A) | dbSNP gnomAD v4 |
2 | g.222297217T>A | CA1330546591 | PAX3 | c.86-4A>T (n.86-4A>T) n.467-4A>T c.230-4A>T (n.230-4A>T) | dbSNP |
2 | g.222297217T>C | CA2663324109 | PAX3 | c.86-4A>G (n.86-4A>G) n.467-4A>G c.230-4A>G (n.230-4A>G) | gnomAD v4 |
2 | g.222297217T= | CA1330546592 | PAX3 | c.86-4A= (n.86-4A=) n.467-4A= c.230-4A= (n.230-4A=) | |
2 | g.222297218G>A | CA539836920 | PAX3 | c.86-5C>T (n.86-5C>T) n.467-5C>T c.230-5C>T (n.230-5C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297218G= | CA1330546593 | PAX3 | c.86-5C= (n.86-5C=) n.467-5C= c.230-5C= (n.230-5C=) | |
2 | g.222297219G>A | CA2663324110 | PAX3 | c.86-6C>T (n.86-6C>T) n.467-6C>T c.230-6C>T (n.230-6C>T) | gnomAD v4 |
2 | g.222297219G>C | CA539836921 | PAX3 | c.86-6C>G (n.86-6C>G) n.467-6C>G c.230-6C>G (n.230-6C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222297219G= | CA1330546594 | PAX3 | c.86-6C= (n.86-6C=) n.467-6C= c.230-6C= (n.230-6C=) | |
2 | g.222297220G>A | CA539836922 | PAX3 | c.86-7C>T (n.86-7C>T) n.467-7C>T c.230-7C>T (n.230-7C>T) | dbSNP gnomAD v2 |
2 | g.222297220G= | CA1330546595 | PAX3 | c.86-7C= (n.86-7C=) n.467-7C= c.230-7C= (n.230-7C=) | |
2 | g.222297220G>T | CA2663324111 | PAX3 | c.86-7C>A (n.86-7C>A) n.467-7C>A c.230-7C>A (n.230-7C>A) | gnomAD v4 |
2 | g.222297221A= | CA1330546597 | PAX3 | c.86-8T= (n.86-8T=) n.467-8T= c.230-8T= (n.230-8T=) | |
2 | g.222297221A>G | CA1330546596 | PAX3 | c.86-8T>C (n.86-8T>C) n.467-8T>C c.230-8T>C (n.230-8T>C) | dbSNP gnomAD v4 |
2 | g.222297223G>T | CA2663324112 | PAX3 | c.86-10C>A (n.86-10C>A) n.467-10C>A c.230-10C>A (n.230-10C>A) | gnomAD v4 |
2 | g.222297224G>T | CA2663324113 | PAX3 | c.86-11C>A (n.86-11C>A) n.467-11C>A c.230-11C>A (n.230-11C>A) | gnomAD v4 |
2 | g.222297225del | CA2663324114 | PAX3 | c.86-12del (n.86-12del) n.467-12del c.230-12del (n.230-12del) | gnomAD v4 |
2 | g.222297225T>G | CA1330546599 | PAX3 | c.86-12A>C (n.86-12A>C) n.467-12A>C c.230-12A>C (n.230-12A>C) | dbSNP |
2 | g.222297225T= | CA1330546598 | PAX3 | c.86-12A= (n.86-12A=) n.467-12A= c.230-12A= (n.230-12A=) | |
2 | g.222297226G>A | CA66340696 | PAX3 | c.86-13C>T (n.86-13C>T) n.467-13C>T c.230-13C>T (n.230-13C>T) | dbSNP gnomAD v4 |
2 | g.222297226G= | CA1330546600 | PAX3 | c.86-13C= (n.86-13C=) n.467-13C= c.230-13C= (n.230-13C=) | |
2 | g.222297226G>T | CA2663324115 | PAX3 | c.86-13C>A (n.86-13C>A) n.467-13C>A c.230-13C>A (n.230-13C>A) | gnomAD v4 |
2 | g.222297227A>G | CA2577257441 | PAX3 | c.86-14T>C (n.86-14T>C) n.467-14T>C c.230-14T>C (n.230-14T>C) | |
2 | g.222297231del | CA2663324116 | PAX3 | c.86-14del (n.86-14del) n.467-14del c.230-14del (n.230-14del) | gnomAD v4 |
2 | g.222297229A>C | CA2663324117 | PAX3 | c.86-16T>G (n.86-16T>G) n.467-16T>G c.230-16T>G (n.230-16T>G) | gnomAD v4 |
2 | g.222297229A>G | CA2663324118 | PAX3 | c.86-16T>C (n.86-16T>C) n.467-16T>C c.230-16T>C (n.230-16T>C) | gnomAD v4 |
2 | g.222297231A>G | CA2577257443 | PAX3 | c.86-18T>C (n.86-18T>C) n.467-18T>C c.230-18T>C (n.230-18T>C) | |
2 | g.222297232G>C | CA2503241879 | PAX3 | c.86-19C>G (n.86-19C>G) n.467-19C>G c.230-19C>G (n.230-19C>G) | |
2 | g.222297234G>A | CA765254420 | PAX3 | c.86-21C>T (n.86-21C>T) n.467-21C>T c.230-21C>T (n.230-21C>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.222297234G= | CA1330546601 | PAX3 | c.86-21C= (n.86-21C=) n.467-21C= c.230-21C= (n.230-21C=) | |
2 | g.222297234G>T | CA539836923 | PAX3 | c.86-21C>A (n.86-21C>A) n.467-21C>A c.230-21C>A (n.230-21C>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297235A>G | CA2754394825 | PAX3 | c.86-22T>C (n.86-22T>C) n.467-22T>C c.230-22T>C (n.230-22T>C) | |
2 | g.222297237G>A | CA2135808 | PAX3 | c.86-24C>T (n.86-24C>T) n.467-24C>T c.230-24C>T (n.230-24C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.222297237G= | CA1330546602 | PAX3 | c.86-24C= (n.86-24C=) n.467-24C= c.230-24C= (n.230-24C=) | |
2 | g.222297237G>T | CA2577257444 | PAX3 | c.86-24C>A (n.86-24C>A) n.467-24C>A c.230-24C>A (n.230-24C>A) | gnomAD v4 |
2 | g.222297238C>A | CA2663324119 | PAX3 | c.86-25G>T (n.86-25G>T) n.467-25G>T c.230-25G>T (n.230-25G>T) | gnomAD v4 |
2 | g.222297238C>G | CA2701733972 | PAX3 | c.86-25G>C (n.86-25G>C) n.467-25G>C c.230-25G>C (n.230-25G>C) | dbSNP |
2 | g.222297242G>A | CA539836924 | PAX3 | c.86-29C>T (n.86-29C>T) n.467-29C>T c.230-29C>T (n.230-29C>T) | dbSNP gnomAD v2 |
2 | g.222297242G= | CA1330546603 | PAX3 | c.86-29C= (n.86-29C=) n.467-29C= c.230-29C= (n.230-29C=) | |
2 | g.222297242G>T | CA2663324120 | PAX3 | c.86-29C>A (n.86-29C>A) n.467-29C>A c.230-29C>A (n.230-29C>A) | gnomAD v4 |
2 | g.222297243G>A | CA2663324121 | PAX3 | c.86-30C>T (n.86-30C>T) n.467-30C>T c.230-30C>T (n.230-30C>T) | gnomAD v4 |
2 | g.222297244A= | CA1330546604 | PAX3 | c.86-31T= (n.86-31T=) n.467-31T= c.230-31T= (n.230-31T=) | |
2 | g.222297244A>G | CA539836925 | PAX3 | c.86-31T>C (n.86-31T>C) n.467-31T>C c.230-31T>C (n.230-31T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222297244A>T | CA2135809 | PAX3 | c.86-31T>A (n.86-31T>A) n.467-31T>A c.230-31T>A (n.230-31T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222297247del | CA2577257445 | PAX3 | c.86-31del (n.86-31del) n.467-31del c.230-31del (n.230-31del) | gnomAD v4 |
2 | g.222297245A>C | CA647673675 | PAX3 | c.86-32T>G (n.86-32T>G) n.467-32T>G c.230-32T>G (n.230-32T>G) | COSMIC |
2 | g.222297245A>T | CA2663324122 | PAX3 | c.86-32T>A (n.86-32T>A) n.467-32T>A c.230-32T>A (n.230-32T>A) | gnomAD v4 |
2 | g.222297247A= | CA1330546605 | PAX3 | c.86-34T= (n.86-34T=) n.467-34T= c.230-34T= (n.230-34T=) | |
2 | g.222297247A>C | CA1330546606 | PAX3 | c.86-34T>G (n.86-34T>G) n.467-34T>G c.230-34T>G (n.230-34T>G) | dbSNP gnomAD v4 |
2 | g.222297247A>G | CA2577257447 | PAX3 | c.86-34T>C (n.86-34T>C) n.467-34T>C c.230-34T>C (n.230-34T>C) | |
2 | g.222297248G>A | CA2577257449 | PAX3 | c.86-35C>T (n.86-35C>T) n.467-35C>T c.230-35C>T (n.230-35C>T) | |
2 | g.222297248G>T | CA2577257450 | PAX3 | c.86-35C>A (n.86-35C>A) n.467-35C>A c.230-35C>A (n.230-35C>A) | gnomAD v4 |
2 | g.222297250C= | CA1330546607 | PAX3 | c.86-37G= (n.86-37G=) n.467-37G= c.230-37G= (n.230-37G=) | |
2 | g.222297250C>T | CA539836926 | PAX3 | c.86-37G>A (n.86-37G>A) n.467-37G>A c.230-37G>A (n.230-37G>A) | dbSNP gnomAD v2 |
2 | g.222297251A>C | CA2663324123 | PAX3 | c.86-38T>G (n.86-38T>G) n.467-38T>G c.230-38T>G (n.230-38T>G) | gnomAD v4 |
2 | g.222297252C>A | CA2663324124 | PAX3 | c.86-39G>T (n.86-39G>T) n.467-39G>T c.230-39G>T (n.230-39G>T) | gnomAD v4 |
2 | g.222297252C= | CA1330546608 | PAX3 | c.86-39G= (n.86-39G=) n.467-39G= c.230-39G= (n.230-39G=) | |
2 | g.222297252C>G | CA539836927 | PAX3 | c.86-39G>C (n.86-39G>C) n.467-39G>C c.230-39G>C (n.230-39G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297254G>A | CA765254453 | PAX3 | c.86-41C>T (n.86-41C>T) n.467-41C>T c.230-41C>T (n.230-41C>T) | dbSNP gnomAD v4 |
2 | g.222297254G= | CA1330546609 | PAX3 | c.86-41C= (n.86-41C=) n.467-41C= c.230-41C= (n.230-41C=) | |
2 | g.222297254G>T | CA2663324125 | PAX3 | c.86-41C>A (n.86-41C>A) n.467-41C>A c.230-41C>A (n.230-41C>A) | gnomAD v4 |
2 | g.222297255del | CA2577257452 | PAX3 | c.86-41del (n.86-41del) n.467-41del c.230-41del (n.230-41del) | |
2 | g.222297255G>A | CA1330546611 | PAX3 | c.86-42C>T (n.86-42C>T) n.467-42C>T c.230-42C>T (n.230-42C>T) | dbSNP gnomAD v4 |
2 | g.222297255G>C | CA1330546612 | PAX3 | c.86-42C>G (n.86-42C>G) n.467-42C>G c.230-42C>G (n.230-42C>G) | dbSNP |
2 | g.222297255G= | CA1330546610 | PAX3 | c.86-42C= (n.86-42C=) n.467-42C= c.230-42C= (n.230-42C=) | |
2 | g.222297255G>T | CA2663324126 | PAX3 | c.86-42C>A (n.86-42C>A) n.467-42C>A c.230-42C>A (n.230-42C>A) | gnomAD v4 |
2 | g.222297257G>A | CA66340697 | PAX3 | c.86-44C>T (n.86-44C>T) n.467-44C>T c.230-44C>T (n.230-44C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.222297257G= | CA1330546613 | PAX3 | c.86-44C= (n.86-44C=) n.467-44C= c.230-44C= (n.230-44C=) | |
2 | g.222297258G>T | CA2663324127 | PAX3 | c.86-45C>A (n.86-45C>A) n.467-45C>A c.230-45C>A (n.230-45C>A) | gnomAD v4 |
2 | g.222297259A>C | CA2663324128 | PAX3 | c.86-46T>G (n.86-46T>G) n.467-46T>G c.230-46T>G (n.230-46T>G) | gnomAD v4 |
2 | g.222297260A= | CA1330546614 | PAX3 | c.86-47T= (n.86-47T=) n.467-47T= c.230-47T= (n.230-47T=) | |
2 | g.222297260A>C | CA539836928 | PAX3 | c.86-47T>G (n.86-47T>G) n.467-47T>G c.230-47T>G (n.230-47T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.222297261A>G | CA2663324129 | PAX3 | c.86-48T>C (n.86-48T>C) n.467-48T>C c.230-48T>C (n.230-48T>C) | gnomAD v4 |
2 | g.222297263T>A | CA2663324131 | PAX3 | c.86-50A>T (n.86-50A>T) n.467-50A>T c.230-50A>T (n.230-50A>T) | gnomAD v4 |
2 | g.222297263T>C | CA2577257453 | PAX3 | c.86-50A>G (n.86-50A>G) n.467-50A>G c.230-50A>G (n.230-50A>G) | gnomAD v4 |
2 | g.222297263T>G | CA2663324130 | PAX3 | c.86-50A>C (n.86-50A>C) n.467-50A>C c.230-50A>C (n.230-50A>C) | gnomAD v4 |